format-version: 1.2 data-version: http://www.orpha.net/version1.0 remark: Date: 31st January 2014 ontology: http://www.orpha.net/ontology/orphanet.owl property_value: http://purl.org/dc/elements/1.1/creator "Ana Rath" xsd:string property_value: http://purl.org/dc/elements/1.1/creator "Drashtti Vasant" xsd:string property_value: http://purl.org/dc/elements/1.1/creator "James Malone" xsd:string property_value: http://purl.org/dc/elements/1.1/creator "Laetitia Chanas" xsd:string property_value: owl:versionInfo "1.0" xsd:string [Term] id: ObsoleteClass name: obsolete_class [Term] id: Orphanet:10 name: 48,XXYY syndrome xref: ICD10:Q98.8 xref: MEDDRA:10048230 xref: MESH:D007713 xref: SNOMED CT:403760006 xref: UMLS:C2936741 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:263749 ! X and Y chromosomal anomaly relationship: part_of Orphanet:325546 ! Sex chromosome disorder of sex development property_value: alternative:term "48,XXYY" xsd:string [Term] id: Orphanet:100 name: Ataxia-telangiectasia xref: ICD10:G11.3 xref: MEDDRA:10003594 xref: MESH:D001260 xref: OMIM:208900 xref: OMIM:208910 xref: SNOMED CT:68504005 xref: UMLS:C0004135 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:169346 ! DNA repair defect other than combined T-cell and B-cell immunodeficiencies relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:183478 ! Genetic skin vascular disease relationship: part_of Orphanet:252190 ! Inherited nervous system cancer-predisposing syndrome relationship: part_of Orphanet:79379 ! Skin vascular disease relationship: part_of Orphanet:95710 ! Non-acquired premature ovarian failure relationship: part_of Orphanet:98097 ! Autosomal recessive cerebellar ataxia due to a DNA repair defect relationship: part_of Orphanet:98613 ! Conjunctival telangiectasia relationship: part_of Orphanet:98688 ! Oculomotor apraxia or related oculomotor disease property_value: alternative:term "Louis-Bar syndrome" xsd:string [Term] id: Orphanet:1000 name: Ocular albinism with late-onset sensorineural deafness xref: ICD10:E70.3 xref: ICD10:H90.5 xref: MESH:C537043 xref: OMIM:300650 xref: UMLS:C1845069 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:284804 ! Ocular albinism relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism (see this term) described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism (see this term) or a contiguous gene syndrome." xsd:string [Term] id: Orphanet:100000 name: Reticular perineurioma is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:100002 ! Extraneural perineurioma [Term] id: Orphanet:100001 name: Sclerosing perineurioma is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:100002 ! Extraneural perineurioma [Term] id: Orphanet:100002 name: Extraneural perineurioma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:85102 ! Perineurioma property_value: alternative:term "Soft tissu perineurioma" xsd:string [Term] id: Orphanet:100003 name: Intraneural perineurioma xref: UMLS:C1370658 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:85102 ! Perineurioma [Term] id: Orphanet:100006 name: Hereditary cerebral hemorrhage with amyloidosis, Dutch type xref: ICD10:E85.4+ xref: ICD10:I68.0* xref: MESH:C537944 xref: MESH:D028243 xref: OMIM:605714 xref: SNOMED CT:56453003 xref: UMLS:C0268394 xref: UMLS:C2931672 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:85458 ! Hereditary cerebral hemorrhage with amyloidosis property_value: alternative:term "HCHWA, Dutch type" xsd:string property_value: alternative:term "HCHWA-D" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA (see this term), a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia." xsd:string [Term] id: Orphanet:100008 name: Hereditary cerebral hemorrhage with amyloidosis, Icelandic type xref: ICD10:E85.4+ xref: ICD10:I68.0* xref: OMIM:105150 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:85458 ! Hereditary cerebral hemorrhage with amyloidosis property_value: alternative:term "HCHWA, Icelandic type" xsd:string property_value: alternative:term "Hereditary cystatin C amyloid angiopathy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages." xsd:string [Term] id: Orphanet:100011 name: Lissencephaly with cerebellar hypoplasia type A xref: ICD10:Q04.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:86823 ! Lissencephaly with cerebellar hypoplasia [Term] id: Orphanet:100012 name: Lissencephaly with cerebellar hypoplasia type B xref: ICD10:Q04.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:86823 ! Lissencephaly with cerebellar hypoplasia [Term] id: Orphanet:100013 name: Lissencephaly with cerebellar hypoplasia type C xref: ICD10:Q04.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:86823 ! Lissencephaly with cerebellar hypoplasia [Term] id: Orphanet:100014 name: Lissencephaly with cerebellar hypoplasia type D xref: ICD10:Q04.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:86823 ! Lissencephaly with cerebellar hypoplasia [Term] id: Orphanet:100015 name: Lissencephaly with cerebellar hypoplasia type E xref: ICD10:Q04.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:86823 ! Lissencephaly with cerebellar hypoplasia [Term] id: Orphanet:100016 name: Lissencephaly with cerebellar hypoplasia type F xref: ICD10:Q04.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:86823 ! Lissencephaly with cerebellar hypoplasia [Term] id: Orphanet:100019 name: Refractory anemia with excess blasts-1 xref: ICD10:D46.2 xref: SNOMED CT:397338009 xref: SNOMED CT:415283002 xref: UMLS:C1318550 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:86839 ! Refractory anemia with excess blasts property_value: alternative:term "RAEB-1" xsd:string [Term] id: Orphanet:100020 name: Refractory anemia with excess blasts-2 xref: ICD10:D46.2 xref: SNOMED CT:397339001 xref: SNOMED CT:415284008 xref: UMLS:C1318551 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:86839 ! Refractory anemia with excess blasts property_value: alternative:term "RAEB-2" xsd:string [Term] id: Orphanet:100021 name: Primary plasmacytoma of the bone xref: ICD10:C90.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:86855 ! Plasmacytoma [Term] id: Orphanet:100022 name: Extramedullary soft tissue plasmacytoma xref: ICD10:C90.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:86855 ! Plasmacytoma [Term] id: Orphanet:100024 name: Mu heavy-chain disease xref: ICD10:C88.2 xref: SNOMED CT:61493004 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:86864 ! Heavy chain disease property_value: alternative:term "mu-HCD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mu-heavy chain disease (mu-HCD) is a type of HCD (see this term) characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL; see this term)." xsd:string [Term] id: Orphanet:100025 name: Alpha heavy-chain disease xref: ICD10:C88.3 xref: SNOMED CT:109982002 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:86864 ! Heavy chain disease property_value: alternative:term "Alpha-HCD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Alpha-heavy chain disease (alpha-HCD) is a type of HCD (see this term) characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID; see this term). The clinical presentation includes chronic diarrhea with evidence of malabsorption." xsd:string [Term] id: Orphanet:100026 name: Gamma heavy-chain disease xref: ICD10:C88.2 xref: SNOMED CT:109984001 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:86864 ! Heavy chain disease property_value: alternative:term "Franklin disease" xsd:string property_value: alternative:term "Gamma-HCD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Gamma-heavy chain disease (gamma-HCD) is a type of HCD (see this term) characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases." xsd:string [Term] id: Orphanet:100031 name: Hypoplastic amelogenesis imperfecta xref: ICD10:K00.5 xref: OMIM:104500 xref: OMIM:104530 xref: OMIM:204650 xref: OMIM:301201 xref: SNOMED CT:109476006 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: part_of Orphanet:88661 ! Amelogenesis imperfecta property_value: alternative:term "Amelogenesis imperfecta type 1" xsd:string [Term] id: Orphanet:100032 name: Hypocalcified amelogenesis imperfecta xref: ICD10:K00.5 xref: OMIM:130900 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:88661 ! Amelogenesis imperfecta property_value: alternative:term "Amelogenesis imperfecta type 3" xsd:string [Term] id: Orphanet:100033 name: Hypomaturation amelogenesis imperfecta xref: ICD10:K00.5 xref: MESH:C536606 xref: OMIM:204700 xref: OMIM:301200 xref: OMIM:612529 xref: OMIM:613211 xref: OMIM:614832 xref: SNOMED CT:109475005 xref: UMLS:C0399372 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: part_of Orphanet:88661 ! Amelogenesis imperfecta property_value: alternative:term "Amelogenesis imperfecta type 2" xsd:string [Term] id: Orphanet:100034 name: Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism xref: ICD10:K00.5 xref: OMIM:104510 xref: SNOMED CT:109472008 xref: UMLS:C0399373 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:88661 ! Amelogenesis imperfecta property_value: alternative:term "Amelogenesis imperfecta type 4" xsd:string [Term] id: Orphanet:100035 name: Solitary necrotic tumor of the liver xref: ICD10:D13.4 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:90003 ! Inflammatory pseudotumor of the liver property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort." xsd:string [Term] id: Orphanet:100039 name: Familial pseudohyperkalemia type 1 xref: ICD10:D58.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:90044 ! Familial pseudohyperkalemia [Term] id: Orphanet:100040 name: Familial pseudohyperkalemia type 2 xref: ICD10:D58.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:90044 ! Familial pseudohyperkalemia [Term] id: Orphanet:100041 name: Familial pseudohyperkalemia, Cardiff type xref: ICD10:D58.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:90044 ! Familial pseudohyperkalemia [Term] id: Orphanet:100043 name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type A xref: ICD10:G60.0 xref: OMIM:606483 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:90114 ! Autosomal dominant intermediate Charcot-Marie-Tooth disease property_value: alternative:term "CMTDIA" xsd:string [Term] id: Orphanet:100044 name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B xref: ICD10:G60.0 xref: OMIM:606482 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:90114 ! Autosomal dominant intermediate Charcot-Marie-Tooth disease property_value: alternative:term "CMTDIB" xsd:string [Term] id: Orphanet:100045 name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type C xref: ICD10:G60.0 xref: OMIM:608323 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:90114 ! Autosomal dominant intermediate Charcot-Marie-Tooth disease property_value: alternative:term "CMTDIC" xsd:string [Term] id: Orphanet:100046 name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D xref: ICD10:G60.0 xref: OMIM:607791 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:90114 ! Autosomal dominant intermediate Charcot-Marie-Tooth disease property_value: alternative:term "CMTDID" xsd:string [Term] id: Orphanet:100047 name: Esophageal duplication cyst xref: ICD10:Q39.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:91357 ! Duplication of the esophagus [Term] id: Orphanet:100048 name: Tubular duplication of the esophagus xref: ICD10:Q39.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:91357 ! Duplication of the esophagus property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Tubular duplication of the esophagous is a rare congenital where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia)and usually presenting in children." xsd:string [Term] id: Orphanet:100049 name: Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:264670 ! Primary interstitial lung disease specific to childhood due to alveolar structure disorder relationship: part_of Orphanet:264992 ! Genetic interstitial lung disease property_value: alternative:term "Primary ILD specific to childhood due to pulmonary surfactant protein anomalies" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is a group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation" xsd:string [Term] id: Orphanet:100050 name: Hereditary angioedema type 1 xref: ICD10:D84.1 xref: MESH:C538577 xref: OMIM:106100 xref: SNOMED CT:234619000 xref: UMLS:C0398775 xref: UMLS:C2717906 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:91378 ! Hereditary angioedema property_value: alternative:term "HAE-I" xsd:string property_value: alternative:term "Hereditary angioneurotic edema type 1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." xsd:string [Term] id: Orphanet:100051 name: Hereditary angioedema type 2 xref: ICD10:D84.1 xref: OMIM:106100 xref: SNOMED CT:234620006 xref: UMLS:C0398776 xref: UMLS:C1862892 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:91378 ! Hereditary angioedema property_value: alternative:term "HAE 2" xsd:string property_value: alternative:term "HAE-II" xsd:string property_value: alternative:term "Hereditary angioneurotic edema type 2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." xsd:string [Term] id: Orphanet:100054 name: Hereditary angioedema type 3 xref: ICD10:D84.1 xref: MESH:D056828 xref: OMIM:610618 xref: SNOMED CT:427167008 xref: UMLS:C1857728 xref: UMLS:C1960459 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:91378 ! Hereditary angioedema property_value: alternative:term "HAE 3" xsd:string property_value: alternative:term "HAE-III" xsd:string property_value: alternative:term "Hereditary angioneurotic edema type 3" xsd:string property_value: alternative:term "Inherited estrogen-associated angioedema" xsd:string property_value: alternative:term "Inherited estrogen-associated angioneurotic edema" xsd:string property_value: alternative:term "Inherited estrogen-dependent angioedema" xsd:string property_value: alternative:term "Inherited estrogen-dependent angioneurotic edema" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." xsd:string [Term] id: Orphanet:100055 name: Acquired angioedema type 2 xref: ICD10:T78.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:91385 ! Acquired angioedema property_value: alternative:term "AAE 2" xsd:string property_value: alternative:term "AAE II" xsd:string property_value: alternative:term "Acquired angioneurotic edema type 2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE, see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." xsd:string [Term] id: Orphanet:100056 name: Acquired angioedema type 1 xref: ICD10:T78.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:91385 ! Acquired angioedema property_value: alternative:term "Acquired angioneurotic edema type 1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." xsd:string [Term] id: Orphanet:100057 name: Renin-angiotensin-aldosterone system-blocker-induced angioedema xref: ICD10:T78.3 xref: OMIM:300909 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:91385 ! Acquired angioedema property_value: alternative:term "RAAS-blocker-induced angioedema" xsd:string property_value: alternative:term "RAAS-blocker-induced angioneurotic edema" xsd:string property_value: alternative:term "RAE" xsd:string property_value: alternative:term "Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE, see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway." xsd:string [Term] id: Orphanet:100067 name: Waterhouse-Friderichsen syndrome xref: ICD10:A39.1+ xref: ICD10:E35.1* xref: MEDDRA:10047847 xref: MESH:D014884 xref: SNOMED CT:36102002 xref: UMLS:C0043068 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:95409 ! Acute adrenal insufficiency [Term] id: Orphanet:100069 name: Semantic dementia xref: ICD10:G31.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:282 ! Frontotemporal dementia relationship: part_of Orphanet:95432 ! Primary progressive aphasia property_value: alternative:term "Semantic primary progressive aphasia" xsd:string property_value: alternative:term "Semantic variant PPA" xsd:string [Term] id: Orphanet:100070 name: Progressive non-fluent aphasia xref: ICD10:G31.0 xref: MEDDRA:10029542 xref: MESH:D057178 xref: OMIM:607485 xref: SNOMED CT:68161007 xref: UMLS:C0751706 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:282 ! Frontotemporal dementia relationship: part_of Orphanet:306708 ! Frontotemporal neurodegeneration with movement disorder relationship: part_of Orphanet:95432 ! Primary progressive aphasia property_value: alternative:term "Agramatic variant of PPA" xsd:string property_value: alternative:term "Agramatic variant of primary progressive aphasia" xsd:string property_value: alternative:term "Non-fluent variant PPA" xsd:string [Term] id: Orphanet:100071 name: Mosaic trisomy 3 xref: ICD10:Q92.1 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98131 ! Total autosomal trisomy [Term] id: Orphanet:100073 name: Neurogenic thoracic outlet syndrome xref: ICD10:G54.0 is_a: Orphanet:97330 ! Thoracic outlet syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Neurogenic cervical rib syndrome" xsd:string property_value: alternative:term "Neurogenic costoclavicular syndrome" xsd:string property_value: alternative:term "Neurogenic thoracic outlet compression syndrome" xsd:string property_value: alternative:term "Neurogenic TOS" xsd:string property_value: alternative:term "NTOS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS; see this term) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS." xsd:string [Term] id: Orphanet:100075 name: Gastric endocrine tumor is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100092 ! Enteropancreatic endocrine tumor relationship: part_of Orphanet:180821 ! Gastro-esophageal tumor [Term] id: Orphanet:100076 name: Duodenal endocrine tumor is_a: Orphanet:100092 ! Enteropancreatic endocrine tumor is_a: Orphanet:104011 ! Intestinal tumor [Term] id: Orphanet:100077 name: Jejunal endocrine tumor is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100092 ! Enteropancreatic endocrine tumor relationship: part_of Orphanet:104011 ! Intestinal tumor [Term] id: Orphanet:100078 name: Ileal endocrine tumor is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100092 ! Enteropancreatic endocrine tumor relationship: part_of Orphanet:104011 ! Intestinal tumor [Term] id: Orphanet:100079 name: Endocrine tumor of the appendix is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100092 ! Enteropancreatic endocrine tumor relationship: part_of Orphanet:104011 ! Intestinal tumor property_value: alternative:term "Appendiceal endocrine tumor" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Appendix endocrine tumors (AETs) are the most common sporadic neoplasm of the appendix and the second most common digestive endocrine tumor, with no specific clinical presentation, and that are divided into either classic AETs or the more aggressive goblet cell carcinoma (GCC; see these terms)." xsd:string [Term] id: Orphanet:100080 name: Colon endocrine tumor is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100092 ! Enteropancreatic endocrine tumor relationship: part_of Orphanet:104011 ! Intestinal tumor [Term] id: Orphanet:100081 name: Rectal endocrine tumor is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100092 ! Enteropancreatic endocrine tumor relationship: part_of Orphanet:104011 ! Intestinal tumor [Term] id: Orphanet:100082 name: Anal endocrine tumor is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100092 ! Enteropancreatic endocrine tumor relationship: part_of Orphanet:104011 ! Intestinal tumor [Term] id: Orphanet:100083 name: Laryngeal endocrine tumor is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100101 ! Endocrine tumor with other location relationship: part_of Orphanet:98061 ! Rare otorhinolaryngologic tumor [Term] id: Orphanet:100084 name: Middle ear endocrine tumor is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100101 ! Endocrine tumor with other location relationship: part_of Orphanet:98061 ! Rare otorhinolaryngologic tumor [Term] id: Orphanet:100085 name: Hepatic endocrine tumor is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100101 ! Endocrine tumor with other location relationship: part_of Orphanet:306636 ! Rare hepatic tumor [Term] id: Orphanet:100086 name: Gall-bladder endocrine tumor xref: ICD10:C23 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100101 ! Endocrine tumor with other location relationship: part_of Orphanet:306633 ! Rare biliary tract cancer [Term] id: Orphanet:100087 name: Thyroid tumor xref: ICD10:C73 xref: ICD10:D34 xref: ICD10:D44.0 is_a: Orphanet:101955 ! Rare thyroid disease is_a: Orphanet:182130 ! Tumor of endocrine glands [Term] id: Orphanet:100088 name: Thyroid carcinoma xref: ICD10:C73 xref: UMLS:C0549473 is_a: Orphanet:100087 ! Thyroid tumor [Term] id: Orphanet:100090 name: Rare parathyroid tumor xref: ICD10:C75.0 xref: ICD10:D35.1 xref: ICD10:D44.2 is_a: Orphanet:182130 ! Tumor of endocrine glands is_a: Orphanet:68415 ! Rare parathyroid diseases and phosphocalcic metabolism disorder [Term] id: Orphanet:100091 name: Adrenal/paraganglial tumor xref: ICD10:C74 xref: ICD10:D35.0 xref: ICD10:D44.1 is_a: Orphanet:101954 ! Rare adrenal disease is_a: Orphanet:182130 ! Tumor of endocrine glands [Term] id: Orphanet:100092 name: Enteropancreatic endocrine tumor is_a: Orphanet:877 ! Endocrine tumor [Term] id: Orphanet:100093 name: Carcinoid tumor and carcinoid syndrome xref: ICD10:E34.0 xref: OMIM:114900 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100092 ! Enteropancreatic endocrine tumor relationship: part_of Orphanet:104011 ! Intestinal tumor [Term] id: Orphanet:100094 name: Multiple polyglandular tumor xref: ICD10:D44.8 is_a: Orphanet:101956 ! Polyendocrinopathy is_a: Orphanet:182130 ! Tumor of endocrine glands is_a: Orphanet:183643 ! Genetic polyendocrinopathy is_a: Orphanet:271847 ! Genetic endocrine tumor [Term] id: Orphanet:1001 name: 2q37 microdeletion syndrome xref: ICD10:Q93.5 xref: MESH:C538317 xref: OMIM:600430 xref: UMLS:C2931817 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:262010 ! Partial deletion of the long arm of chromosome 2 relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: alternative:term "Albright hereditary osteodystrophy 3" xsd:string property_value: alternative:term "Albright hereditary osteodystrophy-like syndrome" xsd:string property_value: alternative:term "Brachydactyly-intellectual deficit" xsd:string property_value: alternative:term "Del(2)(q37)" xsd:string property_value: alternative:term "Deletion 2q37" xsd:string property_value: alternative:term "Deletion 2q37-qter" xsd:string property_value: alternative:term "Monosomy 2q37-qter" xsd:string [Term] id: Orphanet:100100 name: Thymic tumor is_a: Orphanet:98057 ! Rare tumor [Term] id: Orphanet:100101 name: Endocrine tumor with other location is_a: Orphanet:877 ! Endocrine tumor [Term] id: Orphanet:1003 name: Scalp defects - postaxial polydactyly xref: ICD10:Q87.2 xref: MESH:C536622 xref: OMIM:181250 xref: UMLS:C1867021 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183481 ! Genetic mixed dermis disorder relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy relationship: part_of Orphanet:79380 ! Mixed dermis disorder [Term] id: Orphanet:1005 name: Alopecia - contractures - dwarfism - intellectual deficit xref: ICD10:Q87.8 xref: MESH:C537051 xref: OMIM:203550 xref: UMLS:C0795895 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome [Term] id: Orphanet:1006 name: Alopecia antibody deficiency is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:79364 ! Alopecia [Term] id: Orphanet:1008 name: Alopecia - epilepsy - pyorrhea - intellectual deficit xref: OMIM:104130 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:79364 ! Alopecia property_value: alternative:term "Alopecia - epilepsy - pyorrhea - mental subnormality" xsd:string property_value: alternative:term "Shokeir syndrome" xsd:string [Term] id: Orphanet:100924 name: Porphyria due to ALA dehydratase deficiency xref: ICD10:E80.2 xref: OMIM:612740 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:95157 ! Acute hepatic porphyria property_value: alternative:term "ALAD porphyria" xsd:string property_value: alternative:term "Porphyria due to ALAD deficiency" xsd:string property_value: alternative:term "Porphyria due to delta-aminolevulinate dehydratase deficiency" xsd:string property_value: alternative:term "Porphyria of Doss" xsd:string [Term] id: Orphanet:100932 name: Nuclear oculomotor paralysis is_a: Orphanet:98685 ! Oculomotor palsy [Term] id: Orphanet:100973 name: FRAXE intellectual deficit xref: OMIM:309548 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Intellectual deficit associated with fragile site FRAXE" xsd:string [Term] id: Orphanet:100974 name: FRAXF syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:100976 name: Bathing suit ichthyosis xref: ICD10:Q80.2 xref: OMIM:242300 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:281097 ! Autosomal recessive congenital ichthyosis property_value: alternative:term "BSI" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body." xsd:string [Term] id: Orphanet:100978 name: Cloverleaf skull - asphyxiating thoracic dysplasia xref: ICD10:Q87.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis property_value: alternative:term "Benallegue-Lacete syndrome" xsd:string [Term] id: Orphanet:100979 name: Autosomal dominant complex spastic paraplegia xref: ICD10:G11.4 is_a: Orphanet:102013 ! Complex hereditary spastic paraplegia property_value: alternative:term "Autosomal dominant complex HSP" xsd:string property_value: alternative:term "Autosomal dominant complex SPG" xsd:string property_value: alternative:term "Autosomal dominant complicated HSP" xsd:string property_value: alternative:term "Autosomal dominant complicated spastic paraplegia" xsd:string property_value: alternative:term "Autosomal dominant complicated SPG" xsd:string [Term] id: Orphanet:100980 name: Autosomal dominant pure spastic paraplegia xref: ICD10:G11.4 is_a: Orphanet:102012 ! Pure hereditary spastic paraplegia property_value: alternative:term "Autosomal dominant pure HSP" xsd:string property_value: alternative:term "Autosomal dominant pure SPG" xsd:string property_value: alternative:term "Autosomal dominant uncomplicated HSP" xsd:string property_value: alternative:term "Autosomal dominant uncomplicated spastic paraplegia" xsd:string property_value: alternative:term "Autosomal dominant uncomplicated SPG" xsd:string [Term] id: Orphanet:100981 name: Autosomal recessive complex spastic paraplegia xref: ICD10:G11.4 is_a: Orphanet:102013 ! Complex hereditary spastic paraplegia property_value: alternative:term "Autosomal recessive complex HSP" xsd:string property_value: alternative:term "Autosomal recessive complex SPG" xsd:string property_value: alternative:term "Autosomal recessive complicated HSP" xsd:string property_value: alternative:term "Autosomal recessive complicated spastic paraplegia" xsd:string property_value: alternative:term "Autosomal recessive complicated SPG" xsd:string [Term] id: Orphanet:100982 name: Autosomal recessive pure spastic paraplegia xref: ICD10:G11.4 is_a: Orphanet:102012 ! Pure hereditary spastic paraplegia property_value: alternative:term "Autosomal recessive pure HSP" xsd:string property_value: alternative:term "Autosomal recessive pure SPG" xsd:string property_value: alternative:term "Autosomal recessive uncomplicated HSP" xsd:string property_value: alternative:term "Autosomal recessive uncomplicated spastic paraplegia" xsd:string property_value: alternative:term "Autosomal recessive uncomplicated SPG" xsd:string [Term] id: Orphanet:100984 name: Autosomal dominant spastic paraplegia type 3 xref: ICD10:G11.4 xref: MESH:C536864 xref: OMIM:182600 xref: UMLS:C2931355 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:320342 ! Pure or complex autosomal dominant spastic paraplegia property_value: alternative:term "Strümpell disease" xsd:string [Term] id: Orphanet:100985 name: Autosomal dominant spastic paraplegia type 4 xref: ICD10:G11.4 xref: MESH:C536865 xref: OMIM:182601 xref: UMLS:C1866855 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:320342 ! Pure or complex autosomal dominant spastic paraplegia property_value: alternative:term "SPG4" xsd:string [Term] id: Orphanet:100986 name: Autosomal recessive spastic paraplegia type 5A xref: ICD10:G11.4 xref: MESH:C536871 xref: OMIM:270800 xref: UMLS:C2931356 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:320346 ! Pure or complex autosomal recessive spastic paraplegia property_value: alternative:term "SPG5A" xsd:string [Term] id: Orphanet:100988 name: Autosomal dominant spastic paraplegia type 6 xref: ICD10:G11.4 xref: MESH:C536866 xref: OMIM:600363 xref: UMLS:C1838192 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:320342 ! Pure or complex autosomal dominant spastic paraplegia property_value: alternative:term "Autosomal dominant familial spastic paraplegia type 3" xsd:string property_value: alternative:term "SPG6" xsd:string [Term] id: Orphanet:100989 name: Autosomal dominant spastic paraplegia type 8 xref: ICD10:G11.4 xref: MESH:C536867 xref: OMIM:603563 xref: UMLS:C1863704 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100980 ! Autosomal dominant pure spastic paraplegia property_value: alternative:term "SPG8" xsd:string [Term] id: Orphanet:100990 name: Autosomal dominant spastic paraplegia type 9 xref: ICD10:G11.4 xref: MESH:C536868 xref: OMIM:601162 xref: UMLS:C1832669 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100979 ! Autosomal dominant complex spastic paraplegia property_value: alternative:term "Cataracts motor neuropathy - short stature - skeletal anomalies" xsd:string property_value: alternative:term "Spastic paraparesis - amyopathy - cataracts - gastroesophageal reflux" xsd:string property_value: alternative:term "SPG9" xsd:string [Term] id: Orphanet:100991 name: Autosomal dominant spastic paraplegia type 10 xref: ICD10:G11.4 xref: MESH:C537482 xref: OMIM:604187 xref: UMLS:C1858712 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:320342 ! Pure or complex autosomal dominant spastic paraplegia property_value: alternative:term "SPG10" xsd:string [Term] id: Orphanet:100993 name: Autosomal dominant spastic paraplegia type 12 xref: ICD10:G11.4 xref: MESH:C537484 xref: OMIM:604805 xref: UMLS:C1858106 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100980 ! Autosomal dominant pure spastic paraplegia property_value: alternative:term "SPG12" xsd:string [Term] id: Orphanet:100994 name: Autosomal dominant spastic paraplegia type 13 xref: ICD10:G11.4 xref: MESH:C537485 xref: OMIM:605280 xref: UMLS:C1854467 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:320342 ! Pure or complex autosomal dominant spastic paraplegia property_value: alternative:term "SPG13" xsd:string [Term] id: Orphanet:100995 name: Autosomal recessive spastic paraplegia type 14 xref: ICD10:G11.4 xref: MESH:C537486 xref: OMIM:605229 xref: UMLS:C1854568 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:320346 ! Pure or complex autosomal recessive spastic paraplegia property_value: alternative:term "SPG14" xsd:string [Term] id: Orphanet:100996 name: Autosomal recessive spastic paraplegia type 15 xref: ICD10:G11.4 xref: MESH:C536642 xref: OMIM:270700 xref: UMLS:C1849128 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100981 ! Autosomal recessive complex spastic paraplegia property_value: alternative:term "Hereditary spastic paraparesis type 15" xsd:string property_value: alternative:term "Kjellin syndrome" xsd:string property_value: alternative:term "Spastic paraplegia - retinal degeneration" xsd:string property_value: alternative:term "SPG15" xsd:string [Term] id: Orphanet:100997 name: X-linked spastic paraplegia type 16 xref: ICD10:G11.4 xref: MESH:C536643 xref: OMIM:300266 xref: UMLS:C1846046 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:320350 ! Pure or complex X-linked spastic paraplegia property_value: alternative:term "SPG16" xsd:string [Term] id: Orphanet:100998 name: Autosomal dominant spastic paraplegia type 17 xref: ICD10:G11.4 xref: OMIM:270685 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100979 ! Autosomal dominant complex spastic paraplegia relationship: part_of Orphanet:140465 ! Autosomal dominant distal hereditary motor neuropathy property_value: alternative:term "dHMN5B" xsd:string property_value: alternative:term "Distal hereditary motor neuropathy type 5B" xsd:string property_value: alternative:term "Silver Syndrome" xsd:string property_value: alternative:term "Spastic paraplegia-amyotrophy of hands and feet" xsd:string property_value: alternative:term "SPG17" xsd:string [Term] id: Orphanet:100999 name: Autosomal dominant spastic paraplegia type 19 xref: ICD10:G11.4 xref: MESH:C536856 xref: OMIM:607152 xref: UMLS:C1846685 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100980 ! Autosomal dominant pure spastic paraplegia property_value: alternative:term "SPG19" xsd:string [Term] id: Orphanet:101 name: Dentatorubral pallidoluysian atrophy xref: ICD10:G11 xref: OMIM:125370 xref: SNOMED CT:19091006 xref: UMLS:C0751781 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:158266 ! Huntington disease-like syndrome relationship: part_of Orphanet:99 ! Autosomal dominant cerebellar ataxia property_value: alternative:term "Dentatorubropallidoluysian atrophy" xsd:string property_value: alternative:term "DRPLA" xsd:string property_value: alternative:term "Naito-Oyanagi disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation." xsd:string [Term] id: Orphanet:1010 name: Autosomal dominant palmoplantar keratoderma and congenital alopecia xref: ICD10:Q82.8 xref: OMIM:104100 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:98352 ! Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature property_value: alternative:term "Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia" xsd:string property_value: alternative:term "Palmoplantar keratoderma and congenital alopecia, Stevanovic type" xsd:string property_value: alternative:term "PPK-CA, Stevanovic type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications." xsd:string [Term] id: Orphanet:101000 name: Autosomal recessive spastic paraplegia type 20 xref: ICD10:G11.4 xref: OMIM:275900 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:100981 ! Autosomal recessive complex spastic paraplegia property_value: alternative:term "Childhood-onset spastic paraparesis - distal muscle wasting" xsd:string property_value: alternative:term "SPG20" xsd:string property_value: alternative:term "Troyer syndrome" xsd:string [Term] id: Orphanet:101001 name: Autosomal recessive spastic paraplegia type 21 xref: ICD10:G11.4 xref: OMIM:248900 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:320346 ! Pure or complex autosomal recessive spastic paraplegia property_value: alternative:term "Mast syndrome" xsd:string property_value: alternative:term "SPG21" xsd:string [Term] id: Orphanet:101003 name: Autosomal recessive spastic paraplegia type 23 xref: ICD10:G11.4 xref: OMIM:270750 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100981 ! Autosomal recessive complex spastic paraplegia property_value: alternative:term "Lison syndrome" xsd:string property_value: alternative:term "Spastic paraparesis - vitiligo - premature graying - characteristic facies" xsd:string property_value: alternative:term "SPG23" xsd:string [Term] id: Orphanet:101004 name: Autosomal recessive spastic paraplegia type 24 xref: ICD10:G11.4 xref: OMIM:607584 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100981 ! Autosomal recessive complex spastic paraplegia property_value: alternative:term "SPG24" xsd:string [Term] id: Orphanet:101005 name: Autosomal recessive spastic paraplegia type 25 xref: ICD10:G11.4 xref: MESH:C536861 xref: OMIM:608220 xref: UMLS:C2936860 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100981 ! Autosomal recessive complex spastic paraplegia property_value: alternative:term "Autosomal recessive spastic paraplegia - disc herniation" xsd:string property_value: alternative:term "SPG25" xsd:string [Term] id: Orphanet:101006 name: Autosomal recessive spastic paraplegia type 26 xref: ICD10:G11.4 xref: MESH:C536862 xref: OMIM:609195 xref: UMLS:C1836632 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100981 ! Autosomal recessive complex spastic paraplegia property_value: alternative:term "SPG26" xsd:string [Term] id: Orphanet:101007 name: Autosomal recessive spastic paraplegia type 27 xref: ICD10:G11.4 xref: OMIM:609041 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100981 ! Autosomal recessive complex spastic paraplegia property_value: alternative:term "SPG27" xsd:string [Term] id: Orphanet:101008 name: Autosomal recessive spastic paraplegia type 28 xref: ICD10:G11.4 xref: OMIM:609340 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100982 ! Autosomal recessive pure spastic paraplegia property_value: alternative:term "SPG28" xsd:string [Term] id: Orphanet:101009 name: Autosomal dominant spastic paraplegia type 29 xref: ICD10:G11.4 xref: MESH:C536863 xref: OMIM:609727 xref: UMLS:C1857855 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100979 ! Autosomal dominant complex spastic paraplegia property_value: alternative:term "SPG29" xsd:string [Term] id: Orphanet:101010 name: Autosomal recessive spastic paraplegia type 30 xref: ICD10:G11.4 xref: OMIM:610357 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:320346 ! Pure or complex autosomal recessive spastic paraplegia property_value: alternative:term "SPG30" xsd:string [Term] id: Orphanet:101011 name: Autosomal dominant spastic paraplegia type 31 xref: ICD10:G11.4 xref: OMIM:610250 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:320342 ! Pure or complex autosomal dominant spastic paraplegia property_value: alternative:term "SPG31" xsd:string [Term] id: Orphanet:101016 name: Romano-Ward syndrome xref: ICD10:I45.8 xref: MEDDRA:10039211 xref: MESH:D029597 xref: OMIM:192500 xref: OMIM:600919 xref: OMIM:603830 xref: OMIM:611818 xref: OMIM:611819 xref: OMIM:611820 xref: OMIM:612955 xref: OMIM:613485 xref: OMIM:613688 xref: OMIM:613693 xref: OMIM:613695 xref: SNOMED CT:20852007 xref: UMLS:C0035828 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:768 ! Familial long QT syndrome property_value: alternative:term "Romano-Ward long QT syndrome" xsd:string [Term] id: Orphanet:101022 name: Mediterranean macrothrombocytopenia xref: ICD10:D69.1 xref: OMIM:210250 xref: SNOMED CT:60628003 xref: UMLS:C0272281 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:220452 ! Inherited giant platelet disorder [Term] id: Orphanet:101023 name: Cleft hard palate xref: ICD10:Q35.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:2014 ! Cleft palate [Term] id: Orphanet:101028 name: Transaldolase deficiency xref: ICD10:E74.8 xref: OMIM:606003 xref: SNOMED CT:124252008 xref: UMLS:C1291329 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79186 ! Disorder of pentose phosphate metabolism property_value: alternative:term "TALDO" xsd:string [Term] id: Orphanet:101029 name: Sub-cortical nodular heterotopia xref: ICD10:Q04.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:2149 ! Nodular neuronal heterotopia [Term] id: Orphanet:101030 name: Subependymal nodular heterotopia xref: ICD10:Q04.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:2149 ! Nodular neuronal heterotopia [Term] id: Orphanet:101033 name: Peters anomaly - cataract xref: ICD10:Q13.3 xref: MESH:C537885 xref: UMLS:C2931652 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:708 ! Peters anomaly [Term] id: Orphanet:101039 name: Female restricted epilepsy with intellectual deficit xref: OMIM:300088 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:2076 ! X-linked intellectual deficit - epilepsy property_value: alternative:term "EFMR" xsd:string property_value: alternative:term "Familial epilepsy and mental retardation limited to females" xsd:string [Term] id: Orphanet:101041 name: Familial hypofibrinogenemia xref: ICD10:D68.2 xref: OMIM:202400 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:335 ! Congenital fibrinogen deficiency [Term] id: Orphanet:101042 name: Taussig-Bing syndrome xref: ICD10:Q20.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3426 ! Double outlet right ventricle [Term] id: Orphanet:101043 name: Aortic valve dysplasia xref: ICD10:Q23.0 xref: SNOMED CT:253604004 xref: UMLS:C0344993 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3093 ! Congenital aortic valve stenosis [Term] id: Orphanet:101046 name: Autosomal dominant epilepsy with auditory features xref: OMIM:600512 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:309 ! Familial partial epilepsy property_value: alternative:term "ADEAF" xsd:string property_value: alternative:term "ADLTE" xsd:string property_value: alternative:term "ADPEAF" xsd:string property_value: alternative:term "Autosomal dominant lateral temporal lobe epilepsy" xsd:string property_value: alternative:term "Partial epilepsy with auditory aura" xsd:string property_value: alternative:term "Partial epilepsy with auditory features" xsd:string [Term] id: Orphanet:101049 name: Familial hypocalciuric hypercalcemia type 2 xref: ICD10:E83.5 xref: MESH:C537146 xref: OMIM:145981 xref: UMLS:C2931427 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:405 ! Familial hypocalciuric hypercalcemia property_value: alternative:term "FHH type 2" xsd:string [Term] id: Orphanet:101050 name: Familial hypocalciuric hypercalcemia type 3 xref: ICD10:E83.5 xref: MESH:C537147 xref: OMIM:600740 xref: UMLS:C1833372 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:405 ! Familial hypocalciuric hypercalcemia property_value: alternative:term "FHH type 3" xsd:string [Term] id: Orphanet:101052 name: Microlissencephaly type B xref: ICD10:Q04.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:1083 ! Microlissencephaly [Term] id: Orphanet:101063 name: Situs inversus totalis xref: ICD10:Q89.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:271853 ! Genetic cardiac anomaly relationship: part_of Orphanet:450 ! Heterotaxia property_value: alternative:term "Complete situs inversus" xsd:string property_value: alternative:term "Complete situs inversus viscerum" xsd:string property_value: alternative:term "Situs inversus" xsd:string [Term] id: Orphanet:101068 name: Congenital stromal corneal dystrophy xref: ICD10:H18.5 xref: OMIM:610048 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98626 ! Stromal corneal dystrophy property_value: alternative:term "Congenital hereditary stromal dystrophy" xsd:string property_value: alternative:term "CSCD" xsd:string property_value: alternative:term "Witschel dystrophy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy (see this term) characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss." xsd:string [Term] id: Orphanet:101070 name: Bilateral frontoparietal polymicrogyria xref: ICD10:Q04.3 xref: OMIM:606854 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:268940 ! Bilateral polymicrogyria [Term] id: Orphanet:101071 name: Unilateral hemispheric polymicrogyria xref: ICD10:Q04.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:268943 ! Unilateral polymicrogyria [Term] id: Orphanet:101075 name: X-linked Charcot-Marie-Tooth disease type 1 xref: ICD10:G60.0 xref: MESH:C535919 xref: OMIM:302800 xref: UMLS:C0393808 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:140450 ! Hereditary motor and sensory neuropathy relationship: part_of Orphanet:64747 ! X-linked Charcot-Marie-Tooth disease property_value: alternative:term "CMT1X" xsd:string property_value: alternative:term "CMTX1" xsd:string [Term] id: Orphanet:101076 name: X-linked Charcot-Marie-Tooth disease type 2 xref: ICD10:G60.0 xref: OMIM:302801 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: part_of Orphanet:140462 ! X-linked recessive hereditary axonal motor and sensory neuropathy relationship: part_of Orphanet:64747 ! X-linked Charcot-Marie-Tooth disease property_value: alternative:term "CMT2X" xsd:string property_value: alternative:term "CMTX2" xsd:string [Term] id: Orphanet:101077 name: X-linked Charcot-Marie-Tooth disease type 3 xref: ICD10:G60.0 xref: OMIM:302802 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: part_of Orphanet:140462 ! X-linked recessive hereditary axonal motor and sensory neuropathy relationship: part_of Orphanet:64747 ! X-linked Charcot-Marie-Tooth disease property_value: alternative:term "CMT3X" xsd:string property_value: alternative:term "CMTX3" xsd:string [Term] id: Orphanet:101078 name: X-linked Charcot-Marie-Tooth disease type 4 xref: ICD10:G60.0 xref: OMIM:310490 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:140462 ! X-linked recessive hereditary axonal motor and sensory neuropathy relationship: part_of Orphanet:64747 ! X-linked Charcot-Marie-Tooth disease property_value: alternative:term "CMT4X" xsd:string property_value: alternative:term "CMTX4" xsd:string property_value: alternative:term "Cowchock syndrome" xsd:string [Term] id: Orphanet:101081 name: Charcot-Marie-Tooth disease type 1A xref: ICD10:G60.0 xref: OMIM:118220 xref: SNOMED CT:40632002 xref: UMLS:C0270911 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:262803 ! Partial duplication of the short arm of chromosome 17 relationship: part_of Orphanet:65753 ! Charcot-Marie-Tooth disease type 1 property_value: alternative:term "CMT1A" xsd:string property_value: alternative:term "Microduplication 17p12" xsd:string [Term] id: Orphanet:101082 name: Charcot-Marie-Tooth disease type 1B xref: ICD10:G60.0 xref: OMIM:118200 xref: SNOMED CT:42986003 xref: UMLS:C0270912 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:65753 ! Charcot-Marie-Tooth disease type 1 property_value: alternative:term "CMT1B" xsd:string [Term] id: Orphanet:101083 name: Charcot-Marie-Tooth disease type 1C xref: ICD10:G60.0 xref: MESH:C537984 xref: OMIM:601098 xref: SNOMED CT:4183003 xref: UMLS:C0270913 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:65753 ! Charcot-Marie-Tooth disease type 1 property_value: alternative:term "CMT1C" xsd:string [Term] id: Orphanet:101084 name: Charcot-Marie-Tooth disease type 1D xref: ICD10:G60.0 xref: MESH:C537985 xref: OMIM:607678 xref: UMLS:C1843247 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:65753 ! Charcot-Marie-Tooth disease type 1 property_value: alternative:term "CMT1D" xsd:string [Term] id: Orphanet:101085 name: Charcot-Marie-Tooth disease type 1F xref: ICD10:G60.0 xref: OMIM:607734 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:65753 ! Charcot-Marie-Tooth disease type 1 property_value: alternative:term "CMT1F" xsd:string [Term] id: Orphanet:101088 name: X-linked hyper-IgM syndrome xref: ICD10:D80.5 xref: OMIM:308230 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:183663 ! Hyper-IgM syndrome with susceptibility to opportunistic infections property_value: alternative:term "HIGM1" xsd:string property_value: alternative:term "Hyper-IgM syndrome due to CD40 ligand deficiency" xsd:string property_value: alternative:term "Hyper-IgM syndrome due to CD40L deficiency" xsd:string property_value: alternative:term "Hyper-IgM syndrome type 1" xsd:string property_value: alternative:term "XHIGM" xsd:string [Term] id: Orphanet:101089 name: Hyper-IgM syndrome type 2 xref: ICD10:D80.5 xref: OMIM:605258 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:183666 ! Hyper-IgM syndrome without susceptibility to opportunistic infections property_value: alternative:term "Activation-induced cytidine deaminase deficiency" xsd:string property_value: alternative:term "AID deficiency" xsd:string property_value: alternative:term "HIGM2" xsd:string [Term] id: Orphanet:101090 name: Hyper-IgM syndrome type 3 xref: ICD10:D80.5 xref: OMIM:606843 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:183663 ! Hyper-IgM syndrome with susceptibility to opportunistic infections property_value: alternative:term "HIGM3" xsd:string property_value: alternative:term "Hyper-IgM syndrome due to CD40 deficiency" xsd:string [Term] id: Orphanet:101091 name: Hyper-IgM syndrome type 4 xref: ICD10:D80.5 xref: OMIM:608184 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:183666 ! Hyper-IgM syndrome without susceptibility to opportunistic infections property_value: alternative:term "HIGM4" xsd:string [Term] id: Orphanet:101092 name: Hyper-IgM syndrome type 5 xref: ICD10:D80.5 xref: OMIM:608106 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:183666 ! Hyper-IgM syndrome without susceptibility to opportunistic infections property_value: alternative:term "HIGM5" xsd:string property_value: alternative:term "Hyper-IgM syndrome due to UNG deficiency" xsd:string property_value: alternative:term "Hyper-IgM syndrome due to uracil N-glycosylase" xsd:string [Term] id: Orphanet:101096 name: Aregenerative anemia xref: ICD10:D46.7 xref: SNOMED CT:89112009 xref: UMLS:C0553669 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:86836 ! Refractory cytopenia with multilineage dysplasia [Term] id: Orphanet:101097 name: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness xref: ICD10:G60.0 xref: OMIM:607706 xref: OMIM:607831 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:91024 ! Autosomal recessive axonal Charcot-Marie-Tooth disease type 2 property_value: alternative:term "ARCMT2K" xsd:string property_value: alternative:term "Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K" xsd:string property_value: alternative:term "Autosomal recessive axonal CMT4C4" xsd:string [Term] id: Orphanet:1011 name: Alopecia - hypogonadism - extrapyramidal disorder is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_3464 with label: Woodhouse-Sakati syndrome" xsd:string [Term] id: Orphanet:101101 name: Charcot-Marie-Tooth disease type 2B2 xref: ICD10:G60.0 xref: MESH:C537991 xref: OMIM:605589 xref: UMLS:C1854150 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:91024 ! Autosomal recessive axonal Charcot-Marie-Tooth disease type 2 property_value: alternative:term "AR-CMT2B2" xsd:string property_value: alternative:term "Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2" xsd:string property_value: alternative:term "Autosomal recessive axonal CMT4C3" xsd:string [Term] id: Orphanet:101102 name: Charcot-Marie-Tooth disease type 2H xref: ICD10:G60.0 xref: MESH:C535415 xref: OMIM:607731 xref: UMLS:C1843173 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:91024 ! Autosomal recessive axonal Charcot-Marie-Tooth disease type 2 property_value: alternative:term "AR-CMT2C" xsd:string property_value: alternative:term "Autosomal recessive axonal CMT4C2" xsd:string property_value: alternative:term "Axonal Charcot-Marie-Tooth disease with pyramidal involvement" xsd:string [Term] id: Orphanet:101104 name: Marin-Amat syndrome xref: ICD10:Q07.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:91412 ! Marcus-Gunn syndrome [Term] id: Orphanet:101106 name: Non-secreting chemodectoma is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:94080 ! Non-secreting paraganglioma [Term] id: Orphanet:101107 name: Spinocerebellar ataxia type 22 is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_98772 with label: Spinocerebellar ataxia type 19/22" xsd:string [Term] id: Orphanet:101108 name: Spinocerebellar ataxia type 23 xref: ICD10:G11 xref: MESH:C537201 xref: OMIM:610245 xref: UMLS:C1853250 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "SCA23" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia." xsd:string [Term] id: Orphanet:101109 name: Spinocerebellar ataxia type 28 xref: ICD10:G11 xref: MESH:C537205 xref: OMIM:610246 xref: UMLS:C1853249 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "SCA28" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration." xsd:string [Term] id: Orphanet:101110 name: Spinocerebellar ataxia type 20 xref: ICD10:G11 xref: MESH:C537199 xref: OMIM:608687 xref: UMLS:C1837541 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "SCA20" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation." xsd:string [Term] id: Orphanet:101111 name: Spinocerebellar ataxia type 25 xref: ICD10:G11 xref: MESH:C537202 xref: OMIM:608703 xref: UMLS:C1837518 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "SCA25" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy." xsd:string [Term] id: Orphanet:101112 name: Spinocerebellar ataxia type 26 xref: ICD10:G11 xref: MESH:C537203 xref: OMIM:609306 xref: UMLS:C1836395 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:94148 ! Autosomal dominant cerebellar ataxia type 3 property_value: alternative:term "SCA26" xsd:string [Term] id: Orphanet:101150 name: Autosomal recessive dopa-responsive dystonia xref: ICD10:G24.1 xref: OMIM:605407 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:255 ! Dopa-responsive dystonia relationship: part_of Orphanet:284818 ! Disorder of tyrosine metabolism relationship: part_of Orphanet:309819 ! Disorder of pterin metabolism property_value: alternative:term "Autosomal recessive Segawa syndrome" xsd:string property_value: alternative:term "DYT5b" xsd:string property_value: alternative:term "Tyrosine hydroxylase deficiency" xsd:string property_value: alternative:term "Tyrosine hydroxylase-deficient dopa-responsive dystonia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy." xsd:string [Term] id: Orphanet:101151 name: Dystonia 14 is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_98808 with label: Autosomal dominant dopa-responsive dystonia" xsd:string [Term] id: Orphanet:101206 name: Pulmonary valve agenesis - Fallot's tetralogy - absence of ductus arteriosus xref: ICD10:Q22.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:982 ! Pulmonary valve agenesis property_value: alternative:term "Absence of pulmonary valve - Fallot's tetralogy - absence of ductus arteriosus" xsd:string property_value: alternative:term "APV/ADA, Fallot type" xsd:string property_value: alternative:term "PVA/ADA, Fallot type" xsd:string [Term] id: Orphanet:101330 name: Porphyria cutanea tarda xref: ICD10:E80.1 xref: MEDDRA:10036183 xref: MESH:D017119 xref: OMIM:176090 xref: OMIM:176100 xref: SNOMED CT:61860000 xref: UMLS:C0162566 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:95161 ! Chronic hepatic porphyria relationship: part_of Orphanet:98696 ! Genodermatosis with ocular features property_value: alternative:term "PCT" xsd:string [Term] id: Orphanet:101334 name: African tick typhus xref: ICD10:A77.1 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:83313 ! Boutonneuse fever [Term] id: Orphanet:101335 name: Indian tick typhus xref: ICD10:A77.1 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:83313 ! Boutonneuse fever [Term] id: Orphanet:101336 name: Kenya tick typhus xref: ICD10:A77.1 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:83313 ! Boutonneuse fever property_value: alternative:term "Kenya tick-bite fever" xsd:string [Term] id: Orphanet:101337 name: Marseilles fever xref: ICD10:A77.1 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:83313 ! Boutonneuse fever [Term] id: Orphanet:101338 name: Mediterranean spotted fever xref: ICD10:A77.1 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:83313 ! Boutonneuse fever [Term] id: Orphanet:101351 name: Familial isolated congenital asplenia xref: ICD10:Q89.0 xref: OMIM:271400 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:108971 ! Nonsyndromic visceral malformation relationship: part_of Orphanet:179006 ! Primary immunodeficiency due to a defect in adaptive immunity [Term] id: Orphanet:1014 name: Alopecia - intellectual deficit - hypergonadotropic hypogonadism xref: OMIM:601217 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79364 ! Alopecia property_value: alternative:term "Devriendt-Vandenberghe-Fryns syndrome" xsd:string [Term] id: Orphanet:101433 name: Rare urogenital disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:101435 name: Rare genetic eye disease is_a: Orphanet:97966 ! Rare eye disease is_a: Orphanet:98053 ! Rare genetic disease property_value: alternative:term "Genetic ophthalmological disease" xsd:string property_value: alternative:term "Maladie génétique rare des yeux" xsd:string [Term] id: Orphanet:101685 name: Rare intellectual deficit without developmental anomaly is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:183757 ! Rare genetic intellectual deficit relationship: part_of Orphanet:87277 ! Rare intellectual deficit property_value: alternative:term "Nonsyndromic rare mental deficiency" xsd:string [Term] id: Orphanet:1018 name: X-linked diffuse leiomyomatosis - Alport syndrome xref: ICD10:Q87.8 xref: OMIM:150700 xref: OMIM:308940 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:263756 ! Partial deletion of the long arm of chromosome X relationship: part_of Orphanet:93550 ! Basement membrane disease property_value: alternative:term "Xq22.3 microdeletion syndrome" xsd:string [Term] id: Orphanet:1019 name: Epstein syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_182050 with label: MYH9-related thrombocytopenia" xsd:string [Term] id: Orphanet:101932 name: Anomaly of the mitral subvalvular apparatus xref: ICD10:Q23.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95464 ! Congenital mitral valve insufficiency and/or stenosis [Term] id: Orphanet:101934 name: Genetic cardiac rhythm disease is_a: Orphanet:218436 ! Rare cardiac rythm disease is_a: Orphanet:98054 ! Rare genetic cardiac disease [Term] id: Orphanet:101936 name: Rare gastro-esophageal disease is_a: Orphanet:97935 ! Rare gastroenterologic disease [Term] id: Orphanet:101937 name: Rare pancreatic disease is_a: Orphanet:97935 ! Rare gastroenterologic disease [Term] id: Orphanet:101938 name: Rare vascular liver disease is_a: Orphanet:57146 ! Rare hepatic disease [Term] id: Orphanet:101939 name: Rare parenchymatous liver disease is_a: Orphanet:57146 ! Rare hepatic disease [Term] id: Orphanet:101940 name: Metabolic liver disease xref: MEDDRA:10019689 xref: UMLS:C0851734 is_a: Orphanet:156601 ! Rare genetic hepatic disease is_a: Orphanet:57146 ! Rare hepatic disease [Term] id: Orphanet:101941 name: Rare biliary tract disease is_a: Orphanet:57146 ! Rare hepatic disease [Term] id: Orphanet:101943 name: Rare hepatic and biliary tract tumor is_a: Orphanet:57146 ! Rare hepatic disease is_a: Orphanet:98059 ! Rare digestive tumor [Term] id: Orphanet:101944 name: Rare pulmonary disease is_a: Orphanet:97955 ! Rare respiratory disease [Term] id: Orphanet:101945 name: Rare bronchopulmonary tumor is_a: Orphanet:98060 ! Rare respiratory tumor [Term] id: Orphanet:101949 name: Rare acquired eye disease is_a: Orphanet:97966 ! Rare eye disease [Term] id: Orphanet:101950 name: Rare eye tumor is_a: Orphanet:97966 ! Rare eye disease is_a: Orphanet:98057 ! Rare tumor [Term] id: Orphanet:101952 name: Rare diabetes mellitus is_a: Orphanet:97978 ! Rare endocrine disease [Term] id: Orphanet:101953 name: Rare dyslipidemia xref: ICD10:E78 is_a: Orphanet:156638 ! Rare genetic endocrine disease is_a: Orphanet:309005 ! Disorder of lipid metabolism is_a: Orphanet:97978 ! Rare endocrine disease [Term] id: Orphanet:101954 name: Rare adrenal disease is_a: Orphanet:97978 ! Rare endocrine disease [Term] id: Orphanet:101955 name: Rare thyroid disease is_a: Orphanet:97978 ! Rare endocrine disease [Term] id: Orphanet:101956 name: Polyendocrinopathy xref: ICD10:E31 is_a: Orphanet:97978 ! Rare endocrine disease [Term] id: Orphanet:101957 name: Pituitary deficiency xref: ICD10:E23 is_a: Orphanet:181384 ! Rare hypothalamic or pituitary disease is_a: Orphanet:183628 ! Rare genetic hypothalamic or pituitary disease [Term] id: Orphanet:101958 name: Primary adrenal insufficiency xref: MEDDRA:10052381 is_a: Orphanet:101954 ! Rare adrenal disease [Term] id: Orphanet:101959 name: Chronic primary adrenal insufficiency is_a: Orphanet:101958 ! Primary adrenal insufficiency property_value: alternative:term "Chronic adrenocorticoid insufficiency" xsd:string property_value: alternative:term "CPAI" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones." xsd:string [Term] id: Orphanet:101960 name: Genetic chronic primary adrenal insufficiency is_a: Orphanet:101959 ! Chronic primary adrenal insufficiency is_a: Orphanet:183637 ! Rare genetic adrenal disease [Term] id: Orphanet:101963 name: Acquired chronic primary adrenal insufficiency is_a: Orphanet:101959 ! Chronic primary adrenal insufficiency [Term] id: Orphanet:101972 name: Combined T and B cell immunodeficiency xref: ICD10:D81 is_a: Orphanet:179006 ! Primary immunodeficiency due to a defect in adaptive immunity [Term] id: Orphanet:101977 name: Immunodeficiency predominantly affecting antibody production xref: ICD10:D80 is_a: Orphanet:179006 ! Primary immunodeficiency due to a defect in adaptive immunity [Term] id: Orphanet:101987 name: Constitutional neutropenia xref: ICD10:D70 is_a: Orphanet:101988 ! Primary immunodeficiency due to a defect in innate immunity [Term] id: Orphanet:101988 name: Primary immunodeficiency due to a defect in innate immunity is_a: Orphanet:101997 ! Primary immunodeficiency [Term] id: Orphanet:101992 name: Immunodeficiency due to a complement cascade protein anomaly xref: ICD10:D84.1 is_a: Orphanet:101988 ! Primary immunodeficiency due to a defect in innate immunity [Term] id: Orphanet:101995 name: Periodic fever syndrome xref: ICD10:E85.0 xref: MEDDRA:10034533 xref: UMLS:C0015974 is_a: Orphanet:93665 ! Autoinflammatory syndrome [Term] id: Orphanet:101997 name: Primary immunodeficiency xref: MEDDRA:10064859 is_a: Orphanet:183770 ! Rare genetic immune disease is_a: Orphanet:98004 ! Rare immune disease [Term] id: Orphanet:101998 name: Rare epilepsy xref: ICD10:G40 is_a: Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:102 name: Multiple system atrophy xref: ICD10:G90.3 xref: MEDDRA:10064060 xref: MESH:D019578 xref: OMIM:146500 xref: SNOMED CT:230297002 xref: UMLS:C0393571 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:182058 ! Primary orthostatic hypotension relationship: part_of Orphanet:306695 ! Miscellaneous movement disorder due to neurodegenerative disease relationship: part_of Orphanet:98534 ! Neurodegenerative disease with dementia property_value: alternative:term "MSA" xsd:string property_value: alternative:term "Multisystem atrophy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years." xsd:string [Term] id: Orphanet:1020 name: Early-onset autosomal dominant Alzheimer disease xref: ICD10:G30.0 xref: OMIM:104300 xref: OMIM:104310 xref: OMIM:602096 xref: OMIM:605055 xref: OMIM:605526 xref: OMIM:606187 xref: OMIM:606889 xref: OMIM:607116 xref: OMIM:607822 xref: OMIM:608907 xref: OMIM:609636 xref: OMIM:609790 xref: OMIM:611073 xref: OMIM:611152 xref: OMIM:611154 xref: OMIM:611155 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:276058 ! Genetic neurodegenerative disease with dementia relationship: part_of Orphanet:98534 ! Neurodegenerative disease with dementia property_value: alternative:term "Early-onset familial autosomal dominant Alzheimer disease" xsd:string property_value: alternative:term "EOFAD" xsd:string property_value: alternative:term "Familial Alzheimer disease" xsd:string [Term] id: Orphanet:102000 name: Medullar disease is_a: Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:102002 name: Rare ataxia is_a: Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:102003 name: Rare movement disorder is_a: Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:102005 name: Brain inflammatory disease is_a: Orphanet:182064 ! Rare neuroinflammatory or neuroimmunological disease [Term] id: Orphanet:102006 name: Neurovascular malformation is_a: Orphanet:68419 ! Vascular anomaly or angioma is_a: Orphanet:71281 ! Rare central nervous system and retinal vascular disease [Term] id: Orphanet:102009 name: Classic lissencephaly xref: ICD10:Q04.3 xref: SNOMED CT:253147000 xref: UMLS:C0431375 xref: UMLS:C1843916 is_a: Orphanet:48471 ! Lissencephaly property_value: alternative:term "Lissencephaly type 1" xsd:string [Term] id: Orphanet:102010 name: Other syndrome with lissencephaly as a major feature xref: ICD10:Q04.3 is_a: Orphanet:48471 ! Lissencephaly [Term] id: Orphanet:102011 name: Lissencephaly type 3 xref: ICD10:Q04.3 is_a: Orphanet:48471 ! Lissencephaly [Term] id: Orphanet:102012 name: Pure hereditary spastic paraplegia xref: ICD10:G11.4 is_a: Orphanet:685 ! Hereditary spastic paraplegia property_value: alternative:term "Pure familial spastic paraplegia" xsd:string property_value: alternative:term "Pure HSP" xsd:string property_value: alternative:term "Pure SPG" xsd:string property_value: alternative:term "Uncomplicated familial spastic paraplegia" xsd:string property_value: alternative:term "Uncomplicated hereditary spastic paraplegia" xsd:string property_value: alternative:term "Uncomplicated HSP" xsd:string property_value: alternative:term "Uncomplicated SPG" xsd:string [Term] id: Orphanet:102013 name: Complex hereditary spastic paraplegia xref: ICD10:G11.4 is_a: Orphanet:685 ! Hereditary spastic paraplegia property_value: alternative:term "Complex familial spastic paraplegia" xsd:string property_value: alternative:term "Complex HSP" xsd:string property_value: alternative:term "Complex SPG" xsd:string property_value: alternative:term "Complicated familial spastic paraplegia" xsd:string property_value: alternative:term "Complicated hereditary spastic paraplegia" xsd:string property_value: alternative:term "Complicated HSP" xsd:string property_value: alternative:term "Complicated SPG" xsd:string [Term] id: Orphanet:102014 name: Autosomal dominant limb-girdle muscular dystrophy xref: ICD10:G71.0 is_a: Orphanet:263 ! Limb-girdle muscular dystrophy [Term] id: Orphanet:102015 name: Autosomal recessive limb-girdle muscular dystrophy xref: ICD10:G71.0 is_a: Orphanet:263 ! Limb-girdle muscular dystrophy [Term] id: Orphanet:102020 name: Autosomal monosomy xref: ICD10:Q93 is_a: Orphanet:98127 ! Autosomal anomaly property_value: alternative:term "Autosomal deletion" xsd:string [Term] id: Orphanet:102021 name: Rickettsial disease is_a: Orphanet:163582 ! Rare bacterial infectious disease property_value: alternative:term "Rickettsiae disease" xsd:string [Term] id: Orphanet:102022 name: Spot fever rickettsiae disease xref: ICD10:A77 is_a: Orphanet:102021 ! Rickettsial disease [Term] id: Orphanet:102023 name: Typhus group rickettsiae xref: ICD10:A75 xref: SNOMED CT:240613006 xref: UMLS:C0343758 is_a: Orphanet:102021 ! Rickettsial disease [Term] id: Orphanet:102024 name: HHV-8 related disorders is_a: Orphanet:163585 ! Rare viral disease is_a: Orphanet:289635 ! Rare virus induced tumor property_value: alternative:term "Human herpesvirus 8 infection" xsd:string [Term] id: Orphanet:102069 name: Hepatic amyloidosis with intrahepatic cholestasis xref: ICD10:E85.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101939 ! Rare parenchymatous liver disease property_value: alternative:term "Cholestatic hepatic amyloidosis" xsd:string [Term] id: Orphanet:1021 name: Amaurosis - hypertrichosis xref: MESH:C536604 xref: OMIM:204110 xref: UMLS:C1857588 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:71862 ! Retinal dystrophy [Term] id: Orphanet:102237 name: Unexplained periodic fever syndrome xref: ICD10:E85.0 is_a: Orphanet:101995 ! Periodic fever syndrome [Term] id: Orphanet:102283 name: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit is_a: Orphanet:183533 ! Genetic multiple congenital anomalies/dysmorphic syndrome is_a: Orphanet:68341 ! Multiple congenital anomalies/dysmorphic syndrome property_value: alternative:term "MCA/MR" xsd:string property_value: alternative:term "Multiple congenital anomalies-intellectual deficit with or without dysmorphism" xsd:string [Term] id: Orphanet:102284 name: Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit is_a: Orphanet:68341 ! Multiple congenital anomalies/dysmorphic syndrome property_value: alternative:term "MCA/variable MR" xsd:string property_value: alternative:term "Multiple congenital anomalies - variable intellectual deficit with or without dysmorphism" xsd:string [Term] id: Orphanet:102285 name: Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit is_a: Orphanet:68341 ! Multiple congenital anomalies/dysmorphic syndrome property_value: alternative:term "MCA" xsd:string property_value: alternative:term "Multiple congenital anomalies without intellectual deficit (with or without dysmorphism)" xsd:string [Term] id: Orphanet:1023 name: Congenital generalized hypertrichosis, Ambras type xref: ICD10:Q84.2 xref: MESH:C536605 xref: OMIM:145701 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2222 ! Hypertrichosis lanuginosa congenita property_value: alternative:term "Ambras syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." xsd:string [Term] id: Orphanet:102369 name: Rare intellectual deficit with developmental anomaly is_a: Orphanet:87277 ! Rare intellectual deficit property_value: alternative:term "Syndromic intellectual deficit" xsd:string property_value: alternative:term "Syndromic mental deficiency" xsd:string [Term] id: Orphanet:102373 name: Primary glomerular disease is_a: Orphanet:183586 ! Genetic glomerular disease is_a: Orphanet:93548 ! Glomerular disease [Term] id: Orphanet:102379 name: Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:86846 ! Therapy related acute myeloid leukemia and myelodysplastic syndrome [Term] id: Orphanet:102381 name: Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor xref: ICD10:C92.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:86846 ! Therapy related acute myeloid leukemia and myelodysplastic syndrome [Term] id: Orphanet:1027 name: Autosomal recessive amelia xref: ICD10:Q73.0 xref: OMIM:601360 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects [Term] id: Orphanet:102724 name: Acute myeloid leukemia with t(8;21)(q22;q22) translocation xref: ICD10:C92.7 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98277 ! Acute myeloid leukemia with recurrent genetic anomaly [Term] id: Orphanet:1028 name: Amelo-onycho-hypohidrotic syndrome xref: ICD10:Q82.4 xref: OMIM:104570 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome [Term] id: Orphanet:103 name: Genetic optic atrophy xref: ICD10:H47.2 is_a: Orphanet:98671 ! Optic neuropathy property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss." xsd:string [Term] id: Orphanet:1031 name: Amelogenesis imperfecta - nephrocalcinosis xref: ICD10:K00.5 xref: MESH:C538241 xref: OMIM:204690 xref: SNOMED CT:109477002 xref: UMLS:C0403549 xref: UMLS:C2931783 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Amelogenesis imperfecta-nephrocalcinosis, also called enamel-renal syndrome, is an extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure." xsd:string [Term] id: Orphanet:1032 name: Hyperdibasic aminoaciduria type 1 xref: ICD10:E72.0 xref: OMIM:222690 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:79166 ! Disorder of amino acid absorption and transport [Term] id: Orphanet:1034 name: Amniotic bands xref: ICD10:Q79.8 xref: MESH:D000652 xref: UMLS:C1527388 is_a: Orphanet:294929 ! Terminal limb defects relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 property_value: alternative:term "ADAM syndrome" xsd:string property_value: alternative:term "Amniotic deformity - adhesion - mutilation syndrome" xsd:string [Term] id: Orphanet:1035 name: Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria xref: ICD10:E72.1 xref: OMIM:249650 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease property_value: alternative:term "Ampola syndrome" xsd:string [Term] id: Orphanet:1037 name: Arthrogryposis multiplex congenita xref: ICD10:Q74.3 xref: MEDDRA:10051643 xref: MESH:C536613 xref: OMIM:108110 xref: SNOMED CT:77016009 xref: UMLS:C2931264 is_a: Orphanet:109007 ! Arthrogryposis syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "Amyoplasia congenita" xsd:string property_value: alternative:term "Myodysplasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Arthrogryposis multiplex congenita (AMC) is a group of disorder characterized by congenital limb malformation. It manifests by non-progressive multiple joint contractures that incorporate muscle weakness and fibrosis, resulting from a large number of disorders." xsd:string [Term] id: Orphanet:103907 name: Chronic diarrhea due to glucoamylase deficiency xref: ICD10:E74.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:104006 ! Congenital intestinal disease due to an enzymatic defect relationship: part_of Orphanet:309001 ! Disorder of carbohydrate absorption and transport property_value: alternative:term "Maltase-glucoamylase deficiency" xsd:string [Term] id: Orphanet:103908 name: Congenital sodium diarrhea xref: ICD10:P78.3 xref: OMIM:270420 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:104003 ! Congenital intestinal transport defect property_value: alternative:term "Na-H exchange deficiency" xsd:string [Term] id: Orphanet:103909 name: Diarrhea-vomiting due to trehalase deficiency xref: ICD10:E74.3 xref: OMIM:612119 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:104006 ! Congenital intestinal disease due to an enzymatic defect relationship: part_of Orphanet:309001 ! Disorder of carbohydrate absorption and transport property_value: alternative:term "Isolated trehalose intolerance" xsd:string [Term] id: Orphanet:103910 name: Congenital enterocyte heparan sulfate deficiency xref: ICD10:P78.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:104007 ! Congenital enteropathy involving intestinal mucosa development [Term] id: Orphanet:103912 name: Epithelio-exfoliative colitis - deafness xref: ICD10:P78.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:104007 ! Congenital enteropathy involving intestinal mucosa development [Term] id: Orphanet:103915 name: Immunoproliferative small intestinal disease xref: ICD10:C88.3 xref: MESH:D007161 xref: SNOMED CT:109982002 xref: SNOMED CT:109985000 xref: SNOMED CT:123313007 xref: SNOMED CT:27461004 xref: UMLS:C0021071 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:94075 ! Severe immune-mediated enteropathy property_value: alternative:term "IPSID" xsd:string property_value: alternative:term "Mediterranean lymphoma" xsd:string [Term] id: Orphanet:103916 name: Autoimmune enteropathy type 2 xref: ICD10:K52.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:73014 ! Intractable diarrhea of infancy relationship: part_of Orphanet:94075 ! Severe immune-mediated enteropathy [Term] id: Orphanet:103917 name: Autoimmune enteropathy type 3 xref: ICD10:K52.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:73014 ! Intractable diarrhea of infancy relationship: part_of Orphanet:94075 ! Severe immune-mediated enteropathy [Term] id: Orphanet:103918 name: Tropical pancreatitis xref: ICD10:K86.1 xref: OMIM:608189 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:101937 ! Rare pancreatic disease property_value: alternative:term "TCP" xsd:string property_value: alternative:term "Tropical calcific chronic pancreatitis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy (see this term). It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis." xsd:string [Term] id: Orphanet:103919 name: Autoimmune pancreatitis xref: ICD10:K86.1 xref: MEDDRA:10069002 xref: UMLS:C2609129 is_a: Orphanet:284264 ! Immunoglobulin G4-related sclerosing disease relationship: part_of Orphanet:101937 ! Rare pancreatic disease property_value: alternative:term "AIP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP (see this term) which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP (see this term) which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels." xsd:string [Term] id: Orphanet:103920 name: Undetermined colitis xref: ICD10:K52.3 is_a: Orphanet:104012 ! Rare inflammatory bowel disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles Crohn’s disease and ulcerative colitis (see these terms) but that cannot be diagnosed as one of them after examination of an intestinal resection specimen." xsd:string [Term] id: Orphanet:104 name: Leber hereditary optic neuropathy xref: ICD10:H47.2 xref: OMIM:308905 xref: OMIM:535000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:217587 ! Mitochondrial disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:217613 ! Mitochondrial disease with dilated cardiomyopathy relationship: part_of Orphanet:254776 ! Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA relationship: part_of Orphanet:98671 ! Optic neuropathy relationship: part_of Orphanet:98695 ! Mitochondrial disease with eye involvement property_value: alternative:term "Leber optic atrophy" xsd:string property_value: alternative:term "LHON" xsd:string [Term] id: Orphanet:1040 name: Metaphyseal anadysplasia xref: ICD10:Q78.5 xref: MESH:C537351 xref: OMIM:602111 xref: OMIM:613073 xref: SNOMED CT:254085009 xref: UMLS:C0432226 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93430 ! Multiple metaphyseal dysplasia property_value: alternative:term "Maroteaux-Verloes-Stanescu syndrome" xsd:string property_value: alternative:term "Regressive metaphyseal dysplasia" xsd:string [Term] id: Orphanet:104003 name: Congenital intestinal transport defect is_a: Orphanet:117569 ! Rare intestinal disease is_a: Orphanet:165655 ! Genetic intestinal disease [Term] id: Orphanet:104004 name: Intestinal disease due to vitamin absorption anomaly is_a: Orphanet:117569 ! Rare intestinal disease is_a: Orphanet:165655 ! Genetic intestinal disease [Term] id: Orphanet:104005 name: Intestinal disease due to fat malabsorption is_a: Orphanet:117569 ! Rare intestinal disease [Term] id: Orphanet:104006 name: Congenital intestinal disease due to an enzymatic defect is_a: Orphanet:117569 ! Rare intestinal disease is_a: Orphanet:165655 ! Genetic intestinal disease [Term] id: Orphanet:104007 name: Congenital enteropathy involving intestinal mucosa development is_a: Orphanet:117569 ! Rare intestinal disease is_a: Orphanet:165655 ! Genetic intestinal disease [Term] id: Orphanet:104008 name: Short bowel syndrome xref: MEDDRA:10049416 xref: MESH:D012778 xref: SNOMED CT:26629001 xref: UMLS:C0036992 is_a: Orphanet:117569 ! Rare intestinal disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility." xsd:string [Term] id: Orphanet:104009 name: Congenital intestinal motility disorder is_a: Orphanet:117569 ! Rare intestinal disease is_a: Orphanet:165655 ! Genetic intestinal disease [Term] id: Orphanet:104010 name: Intestinal polyposis syndrome xref: MEDDRA:10057018 xref: MESH:D044483 xref: SNOMED CT:254589009 xref: UMLS:C0345891 xref: UMLS:C1257915 is_a: Orphanet:104011 ! Intestinal tumor [Term] id: Orphanet:104011 name: Intestinal tumor is_a: Orphanet:117569 ! Rare intestinal disease is_a: Orphanet:98059 ! Rare digestive tumor [Term] id: Orphanet:104012 name: Rare inflammatory bowel disease is_a: Orphanet:117569 ! Rare intestinal disease [Term] id: Orphanet:104013 name: Metabolic disease with intestinal involvement is_a: Orphanet:117569 ! Rare intestinal disease is_a: Orphanet:165655 ! Genetic intestinal disease [Term] id: Orphanet:104075 name: Small bowel adenocarcinoma xref: ICD10:D01.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:104011 ! Intestinal tumor property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Small bowel adenocarcinoma (SBA) is a rare small intestinal malignancy, most commonly located in the duodenum (55% of cases) but also rarely in the jejunum and ileum, which is usually discovered at an advanced stage in the 6th to 7th decade of life, due to non-specific symptoms at presentation such as nausea, abdominal pain and weight loss or in some cases asymptomatic, and therefore usually has a poor prognosis." xsd:string [Term] id: Orphanet:104076 name: Small bowel leiomyosarcoma xref: ICD10:C17 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:104011 ! Intestinal tumor property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Small bowel leiomyosarcoma is a rare type of small bowel malignancy, originating in the smooth muscle cells within the muscularis propria or the muscularis mucosa, most often found in the jejunum and presenting with gastrointestinal bleeding and anemia and sometimes with other non-specific symptoms such as vomiting, nausea, abdominal pain and weakness and spreading to regional lymph nodes in 14% of cases." xsd:string [Term] id: Orphanet:104077 name: Myopathic intestinal pseudoobstruction xref: ICD10:K59.8 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:2978 ! Chronic intestinal pseudo-obstruction [Term] id: Orphanet:104078 name: Unclassified intestinal pseudoobstruction xref: ICD10:K59.8 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:2978 ! Chronic intestinal pseudo-obstruction [Term] id: Orphanet:1041 name: Hydrops fetalis xref: ICD10:P56 xref: ICD10:P83.2 xref: MEDDRA:10020529 xref: MESH:D015160 xref: OMIM:236750 xref: SNOMED CT:276508000 xref: UMLS:C0020305 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93890 ! Rare developmental defect during embryogenesis property_value: alternative:term "Fetal edema" xsd:string property_value: alternative:term "Fetal hydrops" xsd:string property_value: alternative:term "HF" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF) (see these terms), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus Rh incompatibility)." xsd:string [Term] id: Orphanet:1044 name: Anemia due to adenosine triphosphatase deficiency xref: ICD10:D55.3 xref: OMIM:102800 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79191 ! Disorder of purine metabolism relationship: part_of Orphanet:98374 ! Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder [Term] id: Orphanet:1046 name: Lethal hemolytic anemia - genital anomalies xref: ICD10:D58.8 xref: OMIM:600461 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:182043 ! Rare constitutional hemolytic anemia property_value: alternative:term "Water-West syndrome" xsd:string [Term] id: Orphanet:1047 name: Sideroblastic anemia xref: ICD10:D64.0 xref: ICD10:D64.1 xref: ICD10:D64.2 xref: ICD10:D64.3 xref: MEDDRA:10040661 xref: MESH:D000756 xref: SNOMED CT:41841004 xref: UMLS:C0002896 is_a: Orphanet:108997 ! Rare anemia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias (see these terms). The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias (see these terms)." xsd:string [Term] id: Orphanet:1048 name: Isolated anencephaly/exencephaly xref: ICD10:Q00.0 xref: OMIM:206500 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:268357 ! Neural tube closure defect [Term] id: Orphanet:105 name: Atresia of urethra xref: ICD10:Q64.3 xref: MEDDRA:10064895 xref: SNOMED CT:253902002 xref: UMLS:C0345345 xref: UMLS:C1610065 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:182124 ! Nonsyndromic urogenital tract malformation of male and female relationship: part_of Orphanet:357506 ! Genetic nonsyndromic renal or urinary tract malformation relationship: part_of Orphanet:93546 ! Nonsyndromic renal or urinary tract malformation [Term] id: Orphanet:1051 name: Corneal anesthesia - deafness - intellectual deficit xref: ICD10:Q87.0 xref: OMIM:122430 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Ramos-Arroyo syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Corneal anesthesia - deafness - intellectual deficit syndrome is characterised by hypoesthetic corneas, absence of the peripapillary choriocapillaris and retinal pigment epithelium, bilateral sensorineural hearing loss, persistent ductus arteriosus, moderate intellectual deficit and an unusual facial appearance (hypertelorism, flat facial profile, frontal bossing, depressed nasal bridge, and midfacial hypoplasia)." xsd:string [Term] id: Orphanet:1052 name: Mosaic variegated aneuploidy syndrome xref: ICD10:Q99.8 xref: MESH:C536987 xref: OMIM:257300 xref: OMIM:614114 xref: UMLS:C1850343 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:68335 ! Chromosomal anomaly property_value: alternative:term "Warburton-Anyane-Yeboa syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition." xsd:string [Term] id: Orphanet:1053 name: Vein of Galen aneurysm xref: ICD10:Q28.2 xref: MESH:C536535 xref: SNOMED CT:253194008 xref: UMLS:C0431420 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102006 ! Neurovascular malformation property_value: alternative:term "Vein of Galen arteriovenous malformations" xsd:string [Term] id: Orphanet:1054 name: Aneurysm of sinus of Valsalva xref: ICD10:Q25.4 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98725 ! Ascending aorta anomaly [Term] id: Orphanet:1059 name: Blue rubber bleb nevus xref: ICD10:Q27.8 xref: MESH:C536240 xref: OMIM:112200 xref: SNOMED CT:254784002 xref: UMLS:C0346072 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:183478 ! Genetic skin vascular disease relationship: part_of Orphanet:211240 ! Genetic vascular anomaly relationship: part_of Orphanet:211252 ! Venous malformation relationship: part_of Orphanet:79379 ! Skin vascular disease property_value: alternative:term "Bean syndrome" xsd:string [Term] id: Orphanet:1060 name: Angiomatosis systemic cystic - Seip syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_528 with label: Berardinelli-Seip congenital lipodystrophy" xsd:string [Term] id: Orphanet:1062 name: Hereditary neurocutaneous angioma xref: ICD10:D18.0 xref: MESH:C536364 xref: OMIM:106070 xref: SNOMED CT:403775003 xref: UMLS:C1275084 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102006 ! Neurovascular malformation relationship: part_of Orphanet:166487 ! Cerebral diseases of vascular origin with epilepsy relationship: part_of Orphanet:371436 ! Genetic neurovascular malformation relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis [Term] id: Orphanet:1063 name: Tufted angioma xref: ICD10:D18.0 xref: MESH:C536924 xref: OMIM:607859 xref: SNOMED CT:254786000 xref: UMLS:C0346073 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:211237 ! Vascular tumor relationship: part_of Orphanet:211240 ! Genetic vascular anomaly property_value: alternative:term "Nakagawa angioblastoma" xsd:string [Term] id: Orphanet:1064 name: Aniridia - renal agenesis - psychomotor retardation xref: ICD10:Q87.8 xref: MESH:C536371 xref: OMIM:206750 xref: UMLS:C1859782 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:98557 ! Syndromic aniridia property_value: alternative:term "Sommer-Rathbun-Battles syndrome" xsd:string [Term] id: Orphanet:1065 name: Aniridia - cerebellar ataxia - intellectual deficit xref: OMIM:206700 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:98557 ! Syndromic aniridia relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature property_value: alternative:term "Gillespie syndrome" xsd:string [Term] id: Orphanet:1067 name: Aniridia - ptosis - intellectual deficit - familial obesity is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:98557 ! Syndromic aniridia [Term] id: Orphanet:1068 name: Aniridia-intellectual deficit syndrome is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:98557 ! Syndromic aniridia property_value: alternative:term "Walker-Dyson syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "ANPM" xsd:string [Term] id: Orphanet:1069 name: Aniridia - absent patella xref: ICD10:Q87.8 xref: OMIM:106220 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:98557 ! Syndromic aniridia [Term] id: Orphanet:107 name: BOR syndrome xref: ICD10:Q87.8 xref: MESH:D019280 xref: OMIM:113650 xref: OMIM:610896 xref: SNOMED CT:290006 xref: UMLS:C0265234 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:156202 ! Otomandibular dysplasia associated with monogenic syndromes relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Branchiootorenal syndrome" xsd:string [Term] id: Orphanet:1070 name: Anisakiasis xref: ICD10:B81.0 xref: MEDDRA:10002533 xref: MESH:D017129 xref: SNOMED CT:442035006 xref: SNOMED CT:442652006 xref: UMLS:C0162576 xref: UMLS:C2711591 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163588 ! Rare parasitic disease [Term] id: Orphanet:1071 name: Ankyloblepharon - ectodermal defects - cleft lip/palate xref: ICD10:Q82.4 xref: OMIM:106260 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:98565 ! Syndromic ankyloblepharon property_value: alternative:term "AEC syndrome" xsd:string property_value: alternative:term "Hay-Wells syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome (see this term) with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate." xsd:string [Term] id: Orphanet:1072 name: Ankyloblepharon filiforme adnatum - cleft palate xref: OMIM:106250 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:98565 ! Syndromic ankyloblepharon [Term] id: Orphanet:1074 name: Ankyloblepharon filiforme - imperforate anus xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations relationship: part_of Orphanet:98565 ! Syndromic ankyloblepharon property_value: alternative:term "Aughton-Hufnagle syndrome" xsd:string [Term] id: Orphanet:1077 name: Dental ankylosis xref: ICD10:K03.5 xref: MEDDRA:10044019 xref: MESH:D020254 xref: SNOMED CT:14901003 xref: UMLS:C0155930 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:164001 ! Rare odontal or periodontal disorder property_value: alternative:term "Ankylosis of teeth" xsd:string [Term] id: Orphanet:1078 name: Thumb stiffness - brachydactyly - intellectual deficit xref: OMIM:188201 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: alternative:term "Piussan-Lenaerts-Mathieu syndrome" xsd:string [Term] id: Orphanet:108 name: Babesiosis xref: ICD10:B60.0 xref: MEDDRA:10003965 xref: MESH:D001404 xref: SNOMED CT:21061004 xref: UMLS:C0004576 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:163588 ! Rare parasitic disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " and characterized by a febrile illness and hemolytic anemia but with manifestations ranging from an asymptomatic infection to a fulminating illness that can result in death." xsd:string [Term] id: Orphanet:1081 name: Coronary artery congenital malformation xref: ICD10:Q24.5 xref: MEDDRA:10061060 is_a: Orphanet:88991 ! Congenital heart malformation [Term] id: Orphanet:1083 name: Microlissencephaly xref: ICD10:Q04.3 xref: OMIM:614019 is_a: Orphanet:48471 ! Lissencephaly relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:1084 name: Isolated lissencephaly type 1 without known genetic defects xref: ICD10:Q04.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102009 ! Classic lissencephaly [Term] id: Orphanet:1088 name: Short stature - heart defect - craniofacial anomalies xref: ICD10:Q87.1 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "Rommen-Mueller-Sybert syndrome" xsd:string [Term] id: Orphanet:108923 name: 1 / 1000 is_a: Orphanet:C012 ! point prevelance property_value: http://www.ebi.ac.uk/efo/definition "Prevalence or incidence figures are greater than 1 individual in one thousand inhabitants" xsd:string [Term] id: Orphanet:108924 name: 6-9 / 10 000 is_a: Orphanet:C012 ! point prevelance property_value: http://www.ebi.ac.uk/efo/definition "Prevalence or incidence figures ranging from 6 to 9 individuals in every ten thousand inhabitants" xsd:string [Term] id: Orphanet:108925 name: 1-5 / 10 000 is_a: Orphanet:C012 ! point prevelance property_value: http://www.ebi.ac.uk/efo/definition "Prevalence or incidence figures ranging from 1 to 5 individuals in every ten thousand inhabitants" xsd:string [Term] id: Orphanet:108926 name: 1-9 / 100 000 is_a: Orphanet:C012 ! point prevelance property_value: http://www.ebi.ac.uk/efo/definition "Prevalence or incidence figures ranging from 1 to 9 individuals in one hundred thousand inhabitants" xsd:string [Term] id: Orphanet:108927 name: 1-9 / 1 000 000 is_a: Orphanet:C012 ! point prevelance property_value: http://www.ebi.ac.uk/efo/definition "Prevalence or incidence figures ranging from 1 to 9 individuals in 1 million inhabitants" xsd:string [Term] id: Orphanet:108928 name: 1 / 1 000 000 is_a: Orphanet:C012 ! point prevelance property_value: http://www.ebi.ac.uk/efo/definition "Prevalence or incidence figures are inferior to 1 individual in 1 million inhabitants" xsd:string [Term] id: Orphanet:108929 name: Unknown is_a: Orphanet:C012 ! point prevelance property_value: http://www.ebi.ac.uk/efo/definition "This value is used when there is no data in the scientific literature to allow for a disorder to be assigned to a particular prevalence or incidence range" xsd:string [Term] id: Orphanet:108930 name: No data available is_a: Orphanet:C012 ! point prevelance property_value: http://www.ebi.ac.uk/efo/definition "This value is used when the epidemiological data (prevalence/incidence) are not yet annotated" xsd:string [Term] id: Orphanet:108932 name: autosomal dominant is_a: Orphanet:C005 ! inheritance property_value: http://www.ebi.ac.uk/efo/definition "Describes a disorder in which only one mutated allele located on one of the 22 autosomes (non-sex chromosomes) is sufficient to express the phenotype and which carries a 50% risk of being passed on to offspring" xsd:string [Term] id: Orphanet:108933 name: autosomal recessive is_a: Orphanet:C005 ! inheritance property_value: http://www.ebi.ac.uk/efo/definition "Describes a disorder in which two mutated alleles located on one of the 22 autosomes (non-sex chromosomes) are necessary to express the phenotype and which carries a 25% risk of being passed on to offspring" xsd:string [Term] id: Orphanet:108934 name: x linked recessive is_a: Orphanet:C005 ! inheritance property_value: http://www.ebi.ac.uk/efo/definition "Describes a disorder in which two mutated alleles located on the X chromosome are necessary to express the phenotype, and which carries a risk of inheritance that differs between males and females. The phenotype is expressed in hemizygous males (having only one X chromosome) and homozygous females" xsd:string [Term] id: Orphanet:108935 name: x linked dominant is_a: Orphanet:C005 ! inheritance property_value: http://www.ebi.ac.uk/efo/definition "Describes a disorder in which only one mutated allele located on the X chromosome is sufficient to express the phenotype, and which carries a risk of inheritance that differs between males and females. The phenotype is expressed in heterozygous females as well as in hemizygous males (having only one X chromosome), with males having a more severe phenotype than affected females" xsd:string [Term] id: Orphanet:108936 name: mitochondrial inheritance is_a: Orphanet:C005 ! inheritance property_value: http://www.ebi.ac.uk/efo/definition "Describes a disorder in which a mutation in one of the mitochondrial genes is necessary to express the phenotype and that is always maternally inherited" xsd:string [Term] id: Orphanet:108937 name: multigenic / multifactorial is_a: Orphanet:C005 ! inheritance property_value: http://www.ebi.ac.uk/efo/definition "Describes a disorder in which the combination of one or more genes and/or environmental factors contributes to the expression of the phenotype" xsd:string [Term] id: Orphanet:108938 name: sporadic is_a: Orphanet:C005 ! inheritance property_value: http://www.ebi.ac.uk/efo/definition "Describes a disorder in which the risk of occurrence in more than one family member is unlikely" xsd:string [Term] id: Orphanet:108941 name: Neonatal/infancy is_a: Orphanet:C023 ! age of onset property_value: http://www.ebi.ac.uk/efo/definition "From delivery to 4 weeks of life/From 4 weeks to 2 years of life" xsd:string [Term] id: Orphanet:108942 name: Childhood is_a: Orphanet:C023 ! age of onset property_value: http://www.ebi.ac.uk/efo/definition "From 2 to 11 years of life" xsd:string [Term] id: Orphanet:108943 name: Adolescence / Young adulthood is_a: Orphanet:C023 ! age of onset property_value: http://www.ebi.ac.uk/efo/definition "From 12 to 18 years of life/From 18 to 25 years of life" xsd:string [Term] id: Orphanet:108944 name: Adulthood is_a: Orphanet:C023 ! age of onset property_value: http://www.ebi.ac.uk/efo/definition "From 19 to 65 years of life" xsd:string [Term] id: Orphanet:108945 name: Variable is_a: Orphanet:C023 ! age of onset property_value: http://www.ebi.ac.uk/efo/definition "This value is used when age of onset overlaps at least two defined ranges of age of onset" xsd:string [Term] id: Orphanet:108946 name: No data available is_a: Orphanet:C023 ! age of onset property_value: http://www.ebi.ac.uk/efo/definition "This value is used when there is no data in the scientific literature to allow for a specific age of onset / age of death to be assigned to a disorder" xsd:string [Term] id: Orphanet:108959 name: Nonsyndromic esophageal malformation is_a: Orphanet:88993 ! Esophageal malformation [Term] id: Orphanet:108961 name: Syndromic esophageal malformation is_a: Orphanet:88993 ! Esophageal malformation [Term] id: Orphanet:108963 name: Nonsyndromic gastroduodenal malformation is_a: Orphanet:97944 ! Gastroduodenal malformation [Term] id: Orphanet:108965 name: Syndromic gastroduodenal malformation is_a: Orphanet:97944 ! Gastroduodenal malformation [Term] id: Orphanet:108967 name: Nonsyndromic intestinal malformation is_a: Orphanet:97945 ! Intestinal malformation [Term] id: Orphanet:108969 name: Syndromic intestinal malformation is_a: Orphanet:97945 ! Intestinal malformation [Term] id: Orphanet:108971 name: Nonsyndromic visceral malformation is_a: Orphanet:183548 ! Genetic visceral malformation of the liver, biliary tract, pancreas or spleen is_a: Orphanet:98041 ! Visceral malformation of the liver, biliary tract, pancreas or spleen [Term] id: Orphanet:108973 name: Syndromic visceral malformation is_a: Orphanet:183548 ! Genetic visceral malformation of the liver, biliary tract, pancreas or spleen is_a: Orphanet:98041 ! Visceral malformation of the liver, biliary tract, pancreas or spleen [Term] id: Orphanet:108977 name: Nonsyndromic diaphragmatic or abdominal wall malformation is_a: Orphanet:98043 ! Diaphragmatic or abdominal wall malformation [Term] id: Orphanet:108979 name: Syndromic diaphragmatic or abdominal wall malformation is_a: Orphanet:98043 ! Diaphragmatic or abdominal wall malformation [Term] id: Orphanet:108985 name: Nonsyndromic developmental defect of the eye is_a: Orphanet:183557 ! Genetic developmental defect of the eye is_a: Orphanet:98553 ! Developmental defect of the eye [Term] id: Orphanet:108987 name: Syndromic developmental defect of the eye is_a: Orphanet:183557 ! Genetic developmental defect of the eye is_a: Orphanet:98553 ! Developmental defect of the eye property_value: alternative:term "Anomalie syndromique du développement des yeux" xsd:string [Term] id: Orphanet:108989 name: Nonsyndromic central nervous system malformation is_a: Orphanet:98044 ! Central nervous system malformation [Term] id: Orphanet:108991 name: Syndrome with a central nervous system malformation as major feature is_a: Orphanet:98044 ! Central nervous system malformation [Term] id: Orphanet:108993 name: Nonsyndromic respiratory or mediastinal malformation is_a: Orphanet:183554 ! Genetic respiratory or mediastinal malformation is_a: Orphanet:97962 ! Rare surgical thoracic disease is_a: Orphanet:98045 ! Respiratory or mediastinal malformation [Term] id: Orphanet:108995 name: Syndromic respiratory or mediastinal malformation is_a: Orphanet:97962 ! Rare surgical thoracic disease is_a: Orphanet:98045 ! Respiratory or mediastinal malformation [Term] id: Orphanet:108997 name: Rare anemia is_a: Orphanet:97992 ! Rare hematologic disease [Term] id: Orphanet:108999 name: Rare intoxication is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:109 name: Bannayan-Riley-Ruvalcaba syndrome xref: ICD10:Q87.8 xref: OMIM:153480 xref: SNOMED CT:21984008 xref: SNOMED CT:234138005 xref: SNOMED CT:46011003 xref: UMLS:C0265326 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:104010 ! Intestinal polyposis syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:306498 ! PTEN hamartoma tumor syndrome relationship: part_of Orphanet:363314 ! Genetic intestinal polyposis relationship: part_of Orphanet:93460 ! Overgrowth syndrome property_value: alternative:term "BRRS" xsd:string property_value: alternative:term "Myhre-Riley-Smith syndrome" xsd:string property_value: alternative:term "Syndrome de Myhre-Rikey-Smith" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis." xsd:string [Term] id: Orphanet:109007 name: Arthrogryposis syndrome xref: ICD10:Q68.8 xref: MESH:D001176 xref: SNOMED CT:111246005 xref: UMLS:C0003886 is_a: Orphanet:109009 ! Syndrome with limb malformations as a major feature [Term] id: Orphanet:109009 name: Syndrome with limb malformations as a major feature xref: ICD10:Q87.2 is_a: Orphanet:68378 ! Congenital limb malformation [Term] id: Orphanet:109011 name: Nonsyndromic limb malformation is_a: Orphanet:68378 ! Congenital limb malformation [Term] id: Orphanet:1092 name: Renal-genital-middle ear anomalies xref: ICD10:Q87.8 xref: OMIM:267400 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation [Term] id: Orphanet:1094 name: Anonychia - microcephaly xref: OMIM:607214 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Teebi-Kaurah syndrome" xsd:string [Term] id: Orphanet:11 name: Pentasomy X xref: ICD10:Q97.1 xref: MESH:C535319 xref: SNOMED CT:43248007 xref: UMLS:C0265497 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:263723 ! Polysomy of X chromosome property_value: alternative:term "49,XXXXX" xsd:string property_value: alternative:term "Penta-X" xsd:string property_value: alternative:term "Poly-X" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX)." xsd:string [Term] id: Orphanet:110 name: Bardet-Biedl syndrome xref: ICD10:Q87.8 xref: MEDDRA:10056715 xref: MESH:D020788 xref: OMIM:209900 xref: SNOMED CT:5619004 xref: UMLS:C0752166 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:108969 ! Syndromic intestinal malformation relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:174590 ! Congenital hypogonadotropic hypogonadism relationship: part_of Orphanet:181387 ! Syndrome with hypogonadotropic hypogonadism relationship: part_of Orphanet:240371 ! Syndromic obesity relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy property_value: alternative:term "BBS" xsd:string [Term] id: Orphanet:1101 name: Anophthalmia - megalocornea - cardiopathy - skeletal anomalies xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Cassia Stocco dos Santos syndrome" xsd:string [Term] id: Orphanet:1102 name: Anophthalmia - hypothalamo-pituitary insufficiency is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_3157 with label: Septo-optic dysplasia" xsd:string [Term] id: Orphanet:1104 name: Anophthalmia plus syndrome xref: ICD10:Q02 xref: MESH:C537767 xref: OMIM:600776 xref: UMLS:C1833339 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Fryns microphthalmia syndrome" xsd:string [Term] id: Orphanet:1106 name: Microphthalmia with limb anomalies xref: ICD10:Q11.2 xref: ICD10:Q87.2 xref: OMIM:206920 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "Anophthalmia-syndactyly syndrome" xsd:string property_value: alternative:term "OAS" xsd:string property_value: alternative:term "Ophthalmoacromelic syndrome" xsd:string property_value: alternative:term "Waardenburg anophthalmia syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly." xsd:string [Term] id: Orphanet:111 name: Barth syndrome xref: ICD10:E71.1 xref: MESH:D056889 xref: OMIM:302060 xref: SNOMED CT:297231002 xref: UMLS:C0574083 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:206966 ! Mitochondrial myopathy relationship: part_of Orphanet:217613 ! Mitochondrial disease with dilated cardiomyopathy relationship: part_of Orphanet:289902 ! 3-methylglutaconic aciduria relationship: part_of Orphanet:331184 ! Constitutional neutropenia with extra-haematopoietic manifestations relationship: part_of Orphanet:352312 ! Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement relationship: part_of Orphanet:98695 ! Mitochondrial disease with eye involvement property_value: alternative:term "3-methylglutaconic aciduria type 2" xsd:string property_value: alternative:term "BTHS" xsd:string property_value: alternative:term "Cardioskeletal myopathy with neutropenia and abnormal mitochondria" xsd:string property_value: alternative:term "Cardioskeletal myopathy-neutropenia" xsd:string property_value: alternative:term "MGA2" xsd:string property_value: alternative:term "X-linked cardioskeletal myopathy and neutropenia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria." xsd:string [Term] id: Orphanet:1110 name: Aortic arch anomaly - peculiar facies - intellectual deficit xref: ICD10:Q87.8 xref: MESH:C537785 xref: OMIM:107500 xref: UMLS:C1862682 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:1112 name: Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis xref: ICD10:Q87.8 xref: OMIM:207620 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects property_value: alternative:term "Johnson-Munson syndrome" xsd:string [Term] id: Orphanet:1113 name: Aphalangy - syndactyly - microcephaly xref: ICD10:Q87.2 xref: OMIM:600384 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy [Term] id: Orphanet:1114 name: Circumscribed cutaneous aplasia of the vertex xref: ICD10:Q84.8 xref: OMIM:107600 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183481 ! Genetic mixed dermis disorder relationship: part_of Orphanet:79380 ! Mixed dermis disorder property_value: alternative:term "ACCV" xsd:string property_value: alternative:term "Aplasia cutis congenita verticis" xsd:string [Term] id: Orphanet:1115 name: Recessive aplasia cutis congenita of limbs xref: ICD10:Q84.8 xref: MESH:C536840 xref: OMIM:600360 xref: UMLS:C1838206 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:183481 ! Genetic mixed dermis disorder relationship: part_of Orphanet:79380 ! Mixed dermis disorder [Term] id: Orphanet:1116 name: Aplasia cutis congenita - intestinal lymphangiectasia xref: MESH:C537788 xref: OMIM:207731 xref: UMLS:C1859753 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:117569 ! Rare intestinal disease relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:165655 ! Genetic intestinal disease relationship: part_of Orphanet:183481 ! Genetic mixed dermis disorder relationship: part_of Orphanet:79380 ! Mixed dermis disorder relationship: part_of Orphanet:89832 ! Syndromic lymphedema property_value: alternative:term "Autosomal recessive aplasia cutis" xsd:string property_value: alternative:term "Bronspiegel-Zelnick syndrome" xsd:string [Term] id: Orphanet:1117 name: Aplasia cutis - myopia xref: OMIM:601075 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:183481 ! Genetic mixed dermis disorder relationship: part_of Orphanet:79380 ! Mixed dermis disorder relationship: part_of Orphanet:98620 ! Syndromic myopia property_value: alternative:term "Gershoni-Baruch-Leibo syndrome" xsd:string [Term] id: Orphanet:1118 name: Fibular aplasia - ectrodactyly xref: ICD10:Q73.8 xref: MESH:C537930 xref: OMIM:113310 xref: UMLS:C1862100 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294957 ! Dysostosis with combined reduction defects of upper and lower limbs [Term] id: Orphanet:112 name: Bartter syndrome xref: ICD10:E26.8 xref: MEDDRA:10050839 xref: MESH:D001477 xref: OMIM:241200 xref: OMIM:601198 xref: OMIM:601678 xref: OMIM:602522 xref: OMIM:607364 xref: OMIM:613090 xref: SNOMED CT:71275003 xref: UMLS:C0004775 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183592 ! Genetic renal tubular disease relationship: part_of Orphanet:93603 ! Rare renal tubular disease property_value: alternative:term "Hypokalemic alkalosis - hypercalciuria" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Bartter syndrome is characterised by the association of hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II." xsd:string [Term] id: Orphanet:1120 name: Lung agenesis - heart defect - thumb anomalies xref: ICD10:Q87.8 xref: OMIM:601612 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108993 ! Nonsyndromic respiratory or mediastinal malformation relationship: part_of Orphanet:108995 ! Syndromic respiratory or mediastinal malformation relationship: part_of Orphanet:182111 ! Respiratory malformation relationship: part_of Orphanet:183622 ! Genetic respiratory malformation property_value: alternative:term "Mardini--Nyhan syndrome" xsd:string [Term] id: Orphanet:1121 name: Radial deficiency - tibial hypoplasia xref: ICD10:Q73.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:294957 ! Dysostosis with combined reduction defects of upper and lower limbs [Term] id: Orphanet:1122 name: Ulnar hypoplasia - split foot xref: ICD10:Q73.8 xref: MESH:C536936 xref: OMIM:314360 xref: UMLS:C1839123 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:294957 ! Dysostosis with combined reduction defects of upper and lower limbs property_value: alternative:term "Ulnar hypoplasia - lobster-claw deformity of feet" xsd:string property_value: alternative:term "Van den Berghe-Dequecker syndrome" xsd:string [Term] id: Orphanet:1123 name: Caudal appendage - deafness is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Lynch-Lee-Murday syndrome" xsd:string [Term] id: Orphanet:1125 name: Ocular motor apraxia, Cogan type xref: ICD10:H51.8 xref: OMIM:257550 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98688 ! Oculomotor apraxia or related oculomotor disease property_value: alternative:term "Oculomotor apraxia, Cogan type" xsd:string [Term] id: Orphanet:1126 name: Aprosencephaly cerebellar dysgenesis xref: ICD10:Q04.3 xref: OMIM:601374 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:268926 ! Midline cerebral malformation [Term] id: Orphanet:1129 name: Arachnodactyly - abnormal ossification - intellectual deficit xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Kosztolanyi syndrome" xsd:string [Term] id: Orphanet:113 name: Bazex-Dupré-Christol syndrome xref: ICD10:L98.8 xref: MESH:C537663 xref: OMIM:301845 xref: SNOMED CT:254820002 xref: UMLS:C0346104 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma relationship: part_of Orphanet:98584 ! Malignant tumor of palpebral epidermis relationship: part_of Orphanet:98598 ! Congenital absence of the eyebrow/eyelashes property_value: alternative:term "BDCS" xsd:string property_value: alternative:term "Follicular atrophoderma and basal cell carcinomas" xsd:string [Term] id: Orphanet:1130 name: Arachnodactyly - intellectual deficit - dysmorphism xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "De Die-Smulders-Vles-Fryns syndrome" xsd:string [Term] id: Orphanet:1131 name: X-linked mandibulofacial dysostosis xref: ICD10:Q75.4 xref: OMIM:301950 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:364574 ! Acrofacial dysostosis relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Mandibulofacial dysostosis, Toriello type" xsd:string property_value: alternative:term "X-linked branchial arch syndrome" xsd:string property_value: alternative:term "X-linked mandibulofacial dysostosis with limb anomalies" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "X-linked mandibulofacial dysostosis is characterised by microcephaly, learning disability and anomalies of the branchial arches with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, bilateral hearing loss, and a slightly webbed neck." xsd:string [Term] id: Orphanet:1132 name: Aortic arch defects xref: ICD10:Q25.4 is_a: Orphanet:108995 ! Syndromic respiratory or mediastinal malformation is_a: Orphanet:182111 ! Respiratory malformation is_a: Orphanet:98724 ! Congenital great vessels anomaly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:1133 name: AREDYLD syndrome xref: ICD10:Q87.8 xref: MESH:C537427 xref: OMIM:207780 xref: UMLS:C0342280 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181381 ! Other rare diabetes mellitus relationship: part_of Orphanet:183625 ! Rare genetic diabetes mellitus relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Acrorenal defect - ectodermal dysplasia - diabetes" xsd:string [Term] id: Orphanet:1134 name: Arrhinia xref: ICD10:Q30.1 xref: MESH:C537438 xref: SNOMED CT:111317000 xref: UMLS:C0265740 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:156246 ! Nose and cavum anomaly property_value: alternative:term "Nose agenesis" xsd:string [Term] id: Orphanet:1135 name: Arrhinia - choanal atresia - microphthalmia xref: ICD10:Q87.0 xref: OMIM:603457 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:156246 ! Nose and cavum anomaly relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit [Term] id: Orphanet:1136 name: Arnold-Chiari malformation type II xref: ICD10:Q07.0 xref: OMIM:207950 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268744 ! Spina bifida cystica property_value: alternative:term "Arnold-Chiari malformation type 2" xsd:string property_value: alternative:term "Chiari malformation type 2" xsd:string property_value: alternative:term "Chiari malformation type II" xsd:string [Term] id: Orphanet:1138 name: Abnormal origin of the pulmonary artery xref: ICD10:Q25.7 is_a: Orphanet:2445 ! Conotruncal heart malformations [Term] id: Orphanet:114 name: Auriculoosteodysplasia xref: MESH:C538271 xref: OMIM:109000 xref: UMLS:C1862381 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93441 ! Primary bone dysplasia with multiple joint dislocations [Term] id: Orphanet:1143 name: Neurogenic arthrogryposis multiplex congenita xref: ICD10:Q74.3 xref: MESH:C536614 xref: OMIM:208100 xref: UMLS:C1859721 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:1037 ! Arthrogryposis multiplex congenita property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Neurogenic arthrogryposis multiplex congenital is a form of arthrogryposis multiplex congenital (AMC; see this term), characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is caused by neurogenic muscular atrophy." xsd:string [Term] id: Orphanet:1144 name: Arthrogryposis-like hand anomaly - sensorineural deafness xref: ICD10:Q68.1 xref: OMIM:108200 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:97120 ! Distal arthrogryposis property_value: alternative:term "Distal arthrogryposis type 6" xsd:string [Term] id: Orphanet:1145 name: X-linked distal arthrogryposis multiplex congenita xref: ICD10:Q12.1 xref: MESH:C535380 xref: OMIM:301830 xref: UMLS:C1844934 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:1037 ! Arthrogryposis multiplex congenita relationship: part_of Orphanet:98505 ! Genetic motor neuron disease property_value: alternative:term "SMAX2" xsd:string property_value: alternative:term "Spinal muscular atrophy with arthrogryposis" xsd:string property_value: alternative:term "X-linked infantile spinal muscular atrophy" xsd:string property_value: alternative:term "X-linked spinal muscular atrophy type 2" xsd:string [Term] id: Orphanet:1146 name: Digitotalar dysmorphism xref: ICD10:Q74.3 xref: OMIM:108120 xref: OMIM:126050 xref: OMIM:614335 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:97120 ! Distal arthrogryposis property_value: alternative:term "DA1" xsd:string property_value: alternative:term "DA1A" xsd:string property_value: alternative:term "Distal arthrogryposis type 1" xsd:string [Term] id: Orphanet:1147 name: Sheldon-Hall syndrome xref: ICD10:Q74.3 xref: OMIM:601680 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:97120 ! Distal arthrogryposis property_value: alternative:term "Distal Arthrogryposis type 2B" xsd:string property_value: alternative:term "Freeman-Sheldon syndrome variant" xsd:string [Term] id: Orphanet:1149 name: Arthrogryposis-like syndrome xref: OMIM:208200 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:1037 ! Arthrogryposis multiplex congenita property_value: alternative:term "Kuskokwim disease" xsd:string [Term] id: Orphanet:115 name: Congenital contractural arachnodactyly xref: ICD10:Q87.8 xref: MESH:C536211 xref: OMIM:121050 xref: SNOMED CT:205821003 xref: UMLS:C0220668 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:284993 ! Marfan and Marfan-related disorder relationship: part_of Orphanet:97120 ! Distal arthrogryposis property_value: alternative:term "Beals syndrome" xsd:string property_value: alternative:term "Beals-Hecht syndrome" xsd:string property_value: alternative:term "CCA syndrome" xsd:string property_value: alternative:term "Distal arthrogryposis type 9" xsd:string [Term] id: Orphanet:1150 name: Arthrogryposis multiplex congenita - whistling face xref: ICD10:Q87.8 xref: MESH:C538401 xref: OMIM:208155 xref: UMLS:C1859711 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:1037 ! Arthrogryposis multiplex congenita relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations property_value: alternative:term "Illum syndrome" xsd:string [Term] id: Orphanet:1154 name: Arthrogryposis with oculomotor limitation and electroretinal anomalies xref: ICD10:Q74.3 xref: OMIM:108145 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:97120 ! Distal arthrogryposis property_value: alternative:term "Distal arthrogryposis type 5" xsd:string property_value: alternative:term "Distal arthrogryposis type IIB" xsd:string property_value: alternative:term "Distal arthrogryposis with ophthalmoplegia" xsd:string property_value: alternative:term "Oculomelic amyoplasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal." xsd:string [Term] id: Orphanet:1155 name: Arthrogryposis due to muscular dystrophy xref: ICD10:M62.8 xref: OMIM:253900 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:1037 ! Arthrogryposis multiplex congenita relationship: part_of Orphanet:97242 ! Congenital muscular dystrophy [Term] id: Orphanet:1159 name: Progressive pseudorheumatoid arthropathy of childhood xref: ICD10:Q77.7 xref: MESH:C535387 xref: OMIM:208230 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia property_value: alternative:term "Spondyloepiphyseal dysplasia tarda - progressive arthropathy" xsd:string [Term] id: Orphanet:116 name: Beckwith-Wiedemann syndrome xref: ICD10:Q87.3 xref: MEDDRA:10050344 xref: MESH:D001506 xref: OMIM:130650 xref: SNOMED CT:81780002 xref: UMLS:C0004903 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:156207 ! Macroglossia relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:183595 ! Genetic renal tumor relationship: part_of Orphanet:217595 ! Syndrome associated with hypertrophic cardiomyopathy relationship: part_of Orphanet:93460 ! Overgrowth syndrome relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "BWS" xsd:string property_value: alternative:term "Exomphalos - macroglossia - gigantism" xsd:string property_value: alternative:term "Wiedemann-Beckwith syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations." xsd:string [Term] id: Orphanet:1160 name: Chylous ascites xref: ICD10:I89.8 xref: MEDDRA:10003446 xref: MESH:D002915 xref: OMIM:208300 xref: SNOMED CT:52985009 xref: UMLS:C0008732 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:165711 ! Rare abdominal surgical disease relationship: part_of Orphanet:89832 ! Syndromic lymphedema property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain." xsd:string [Term] id: Orphanet:1163 name: Aspergillosis xref: ICD10:B44 xref: MEDDRA:10003488 xref: MESH:D001228 xref: OMIM:614079 xref: SNOMED CT:65553006 xref: UMLS:C0004030 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163591 ! Rare mycosis [Term] id: Orphanet:1164 name: Allergic bronchopulmonary aspergillosis xref: ICD10:B44.1 xref: MEDDRA:10006474 xref: MESH:D001229 xref: OMIM:103920 xref: SNOMED CT:37981002 xref: UMLS:C0004031 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101944 ! Rare pulmonary disease relationship: part_of Orphanet:98052 ! Rare allergic respiratory disease property_value: alternative:term "ABPA" xsd:string property_value: alternative:term "Allergic aspergillosis" xsd:string property_value: alternative:term "Hinson-Pepys disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition ", clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates." xsd:string [Term] id: Orphanet:1166 name: Congenital unilateral hypoplasia of depressor anguli oris xref: ICD10:Q87.0 xref: OMIM:125520 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:155832 ! Rare head and neck malformation relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "Isolated asymmetric crying facies" xsd:string [Term] id: Orphanet:1168 name: Ataxia - oculomotor apraxia type 1 xref: ICD10:G11.3 xref: OMIM:208920 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:35656 ! Coenzyme Q10 deficiency relationship: part_of Orphanet:98097 ! Autosomal recessive cerebellar ataxia due to a DNA repair defect relationship: part_of Orphanet:98497 ! Genetic peripheral neuropathy relationship: part_of Orphanet:98688 ! Oculomotor apraxia or related oculomotor disease property_value: alternative:term "AOA1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Ataxia-oculomotor apraxia type 1 (AOA1) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by a progressive cerebellar ataxia associated with oculomotor apraxia, choeroathetosis and severe peripheral neuropathy." xsd:string [Term] id: Orphanet:117 name: Behçet disease xref: ICD10:M35.2 xref: MEDDRA:10004213 xref: MESH:D001528 xref: OMIM:109650 xref: SNOMED CT:310701003 xref: UMLS:C0004943 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:156140 ! Predominantly large-vessel vasculitis relationship: part_of Orphanet:166484 ! Inflammatory and autoimmune disease with epilepsy relationship: part_of Orphanet:280926 ! Systemic diseases with anterior uveitis relationship: part_of Orphanet:280930 ! Systemic diseases with posterior uveitis relationship: part_of Orphanet:280933 ! Systemic diseases with panuveitis relationship: part_of Orphanet:290842 ! Autoinflammatory syndrome with skin involvement relationship: part_of Orphanet:324936 ! Unclassified autoinflammatory syndrome relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations." xsd:string [Term] id: Orphanet:1170 name: Autosomal recessive cerebelloparenchymal disorder type 3 xref: ICD10:G11.0 xref: OMIM:213200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98095 ! Autosomal recessive congenital cerebellar ataxia property_value: alternative:term "SCAR2" xsd:string [Term] id: Orphanet:1171 name: Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_1215 with label: Autosomal dominant optic atrophy plus syndrome" xsd:string [Term] id: Orphanet:1172 name: Autosomal recessive cerebellar ataxia xref: ICD10:G11 is_a: Orphanet:183518 ! Rare hereditary ataxia is_a: Orphanet:98539 ! Early-onset ataxia with dementia is_a: Orphanet:98693 ! Spinocerebellar ataxia with oculomotor anomaly property_value: alternative:term "ARCA" xsd:string [Term] id: Orphanet:1173 name: Cerebellar ataxia - hypogonadism xref: ICD10:G11.8 xref: OMIM:212840 xref: OMIM:605672 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:174590 ! Congenital hypogonadotropic hypogonadism relationship: part_of Orphanet:181387 ! Syndrome with hypogonadotropic hypogonadism relationship: part_of Orphanet:183518 ! Rare hereditary ataxia relationship: part_of Orphanet:98048 ! Rare male infertility property_value: alternative:term "Luteinizing hormone-releasing hormone deficiency with ataxia" xsd:string [Term] id: Orphanet:1174 name: Cerebellar ataxia - ectodermal dysplasia xref: ICD10:G11.1 xref: ICD10:Q82.4 xref: MESH:C535350 xref: OMIM:212835 xref: UMLS:C1859306 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." xsd:string [Term] id: Orphanet:1175 name: X-linked progressive cerebellar ataxia xref: ICD10:G11.1 xref: OMIM:302500 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:247765 ! X-linked cerebellar ataxia relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit relationship: part_of Orphanet:98693 ! Spinocerebellar ataxia with oculomotor anomaly [Term] id: Orphanet:117569 name: Rare intestinal disease is_a: Orphanet:97935 ! Rare gastroenterologic disease [Term] id: Orphanet:117573 name: Syndromic anorectal malformation is_a: Orphanet:96346 ! Anorectal malformation [Term] id: Orphanet:117602 name: PHD finger protein 6 xref: ENSEMBL:ENSG00000156531 xref: GENATLAS:PHF6 xref: HGNC:18145 xref: OMIM:300414 xref: UNIPROTKB/SWISSPROT:Q8IWS0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:127 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Borjeson-Forssman-Lehmann syndrome property_value: alternative:term "BFLS" xsd:string property_value: alternative:term "BORJ" xsd:string property_value: alternative:term "Borjeson-Forssman-Lehmann syndrome" xsd:string property_value: alternative:term "CENP-31" xsd:string property_value: alternative:term "centromere protein 31" xsd:string property_value: alternative:term "KIAA1823" xsd:string property_value: alternative:term "MGC14797" xsd:string property_value: symbol "PHF6" xsd:string [Term] id: Orphanet:117605 name: septin 9 xref: ENSEMBL:ENSG00000184640 xref: GENATLAS:SEPT9 xref: HGNC:7323 xref: OMIM:604061 xref: UNIPROTKB/SWISSPROT:Q9UHD8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:2901 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neuralgic amyotrophy property_value: alternative:term "AF17q25" xsd:string property_value: alternative:term "KIAA0991" xsd:string property_value: alternative:term "MLL septin-like fusion" xsd:string property_value: alternative:term "MSF" xsd:string property_value: alternative:term "MSF1" xsd:string property_value: alternative:term "Ov/Br septin" xsd:string property_value: alternative:term "PNUTL4" xsd:string property_value: alternative:term "SeptD1" xsd:string property_value: symbol "SEPT9" xsd:string [Term] id: Orphanet:117613 name: achalasia, adrenocortical insufficiency, alacrimia xref: ENSEMBL:ENSG00000094914 xref: GENATLAS:AAAS xref: HGNC:13666 xref: OMIM:605378 xref: REACTOME:Q9NRG9 xref: UNIPROTKB/SWISSPROT:Q9NRG9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:869 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Triple A syndrome property_value: alternative:term "Achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)" xsd:string property_value: alternative:term "aladin" xsd:string property_value: alternative:term "Allgrove, triple-A" xsd:string property_value: symbol "AAAS" xsd:string [Term] id: Orphanet:117617 name: 4-aminobutyrate aminotransferase xref: ENSEMBL:ENSG00000183044 xref: GENATLAS:ABAT xref: HGNC:23 xref: IUPHAR:2464 xref: OMIM:137150 xref: REACTOME:P80404 xref: UNIPROTKB/SWISSPROT:P80404 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2066 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gamma-aminobutyric acid transaminase deficiency property_value: alternative:term "4-aminobutyrate transaminase" xsd:string property_value: alternative:term "GABAT" xsd:string property_value: symbol "ABAT" xsd:string [Term] id: Orphanet:117620 name: ATP-binding cassette, sub-family A (ABC1), member 12 xref: ENSEMBL:ENSG00000144452 xref: GENATLAS:ABCA12 xref: HGNC:14637 xref: IUPHAR:766 xref: OMIM:607800 xref: REACTOME:Q86UK0 xref: UNIPROTKB/SWISSPROT:Q86UK0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:313 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lamellar ichthyosis relationship: Orphanet:317343 Orphanet:457 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Harlequin ichthyosis relationship: Orphanet:317343 Orphanet:79394 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital non-bullous ichthyosiform erythroderma property_value: alternative:term "DKFZP434G232" xsd:string property_value: alternative:term "ichthyosis congenita II, lamellar ichthyosis B" xsd:string property_value: alternative:term "ICR2B" xsd:string property_value: alternative:term "LI2" xsd:string property_value: symbol "ABCA12" xsd:string [Term] id: Orphanet:117623 name: ATP-binding cassette, sub-family A (ABC1), member 4 xref: ENSEMBL:ENSG00000198691 xref: GENATLAS:ABCA4 xref: HGNC:34 xref: OMIM:601691 xref: REACTOME:P78363 xref: UNIPROTKB/SWISSPROT:P78363 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone rod dystrophy relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa relationship: Orphanet:317343 Orphanet:827 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Stargardt disease property_value: alternative:term "ABCR" xsd:string property_value: alternative:term "ARMD2" xsd:string property_value: alternative:term "ATP-binding cassette transporter, retinal-specific" xsd:string property_value: alternative:term "CORD3" xsd:string property_value: alternative:term "FFM" xsd:string property_value: alternative:term "RP19" xsd:string property_value: alternative:term "Stargardt disease" xsd:string property_value: alternative:term "STGD" xsd:string property_value: alternative:term "STGD1" xsd:string property_value: symbol "ABCA4" xsd:string [Term] id: Orphanet:117631 name: ATP-binding cassette, sub-family B (MDR/TAP), member 11 xref: ENSEMBL:ENSG00000073734 xref: GENATLAS:ABCB11 xref: HGNC:42 xref: OMIM:603201 xref: REACTOME:O95342 xref: UNIPROTKB/SWISSPROT:O95342 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79304 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive familial intrahepatic cholestasis type 2 relationship: Orphanet:317343 Orphanet:99961 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Benign recurrent intrahepatic cholestasis type 2 relationship: Orphanet:317345 Orphanet:69665 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intrahepatic cholestasis of pregnancy property_value: alternative:term "ABC member 16, MDR/TAP subfamily" xsd:string property_value: alternative:term "ABC16" xsd:string property_value: alternative:term "bile salt export pump" xsd:string property_value: alternative:term "BSEP" xsd:string property_value: alternative:term "PFIC-2" xsd:string property_value: alternative:term "PFIC2" xsd:string property_value: alternative:term "PGY4" xsd:string property_value: alternative:term "progressive familial intrahepatic cholestasis 2" xsd:string property_value: alternative:term "SPGP" xsd:string property_value: symbol "ABCB11" xsd:string [Term] id: Orphanet:117639 name: ATP-binding cassette, sub-family B (MDR/TAP), member 4 xref: ENSEMBL:ENSG00000005471 xref: GENATLAS:ABCB4 xref: HGNC:45 xref: OMIM:171060 xref: REACTOME:P21439 xref: UNIPROTKB/SWISSPROT:P21439 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:69663 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Low phospholipid associated cholelithiasis relationship: Orphanet:317343 Orphanet:79305 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive familial intrahepatic cholestasis type 3 relationship: Orphanet:317345 Orphanet:69665 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intrahepatic cholestasis of pregnancy property_value: alternative:term "GBD1" xsd:string property_value: alternative:term "MDR2" xsd:string property_value: alternative:term "MDR3" xsd:string property_value: alternative:term "PFIC-3" xsd:string property_value: alternative:term "PGY3" xsd:string property_value: symbol "ABCB4" xsd:string [Term] id: Orphanet:117646 name: ATP-binding cassette, sub-family B (MDR/TAP), member 7 xref: ENSEMBL:ENSG00000131269 xref: GENATLAS:ABCB7 xref: HGNC:48 xref: OMIM:300135 xref: REACTOME:O75027 xref: UNIPROTKB/SWISSPROT:O75027 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2802 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked sideroblastic anemia - ataxia property_value: alternative:term "ABC7" xsd:string property_value: alternative:term "ASAT" xsd:string property_value: alternative:term "Atm1p" xsd:string property_value: alternative:term "EST140535" xsd:string property_value: symbol "ABCB7" xsd:string [Term] id: Orphanet:117652 name: ATP-binding cassette, sub-family C (CFTR/MRP), member 2 xref: ENSEMBL:ENSG00000023839 xref: GENATLAS:ABCC2 xref: HGNC:53 xref: OMIM:601107 xref: REACTOME:Q92887 xref: UNIPROTKB/SWISSPROT:Q92887 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:234 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dubin-Johnson syndrome property_value: alternative:term "canalicular multispecific organic anion transporter 1" xsd:string property_value: alternative:term "CMOAT" xsd:string property_value: alternative:term "cMRP" xsd:string property_value: alternative:term "DJS" xsd:string property_value: alternative:term "MRP2" xsd:string property_value: symbol "ABCC2" xsd:string [Term] id: Orphanet:117658 name: ATP-binding cassette, sub-family C (CFTR/MRP), member 6 xref: ENSEMBL:ENSG00000091262 xref: GENATLAS:ABCC6 xref: HGNC:57 xref: OMIM:603234 xref: REACTOME:O95255 xref: UNIPROTKB/SWISSPROT:O95255 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:51608 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized arterial calcification of infancy relationship: Orphanet:317343 Orphanet:758 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pseudoxanthoma elasticum property_value: alternative:term "ARA" xsd:string property_value: alternative:term "EST349056" xsd:string property_value: alternative:term "MLP1" xsd:string property_value: alternative:term "MRP6" xsd:string property_value: alternative:term "pseudoxanthoma elasticum" xsd:string property_value: alternative:term "PXE" xsd:string property_value: alternative:term "URG7" xsd:string property_value: symbol "ABCC6" xsd:string [Term] id: Orphanet:117665 name: ATP-binding cassette, sub-family C (CFTR/MRP), member 8 xref: ENSEMBL:ENSG00000006071 xref: GENATLAS:ABCC8 xref: HGNC:59 xref: IUPHAR:2594 xref: OMIM:600509 xref: REACTOME:Q09428 xref: UNIPROTKB/SWISSPROT:Q09428 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:276575 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant hyperinsulinism due to SUR1 deficiency relationship: Orphanet:317343 Orphanet:276598 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency relationship: Orphanet:317343 Orphanet:552 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MODY syndrome relationship: Orphanet:317343 Orphanet:79643 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive hyperinsulinism due to SUR1 deficiency relationship: Orphanet:317343 Orphanet:99885 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Permanent neonatal diabetes mellitus relationship: Orphanet:317343 Orphanet:99886 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Transient neonatal diabetes mellitus property_value: alternative:term "ABC36" xsd:string property_value: alternative:term "HHF1" xsd:string property_value: alternative:term "HI" xsd:string property_value: alternative:term "HRINS" xsd:string property_value: alternative:term "MRP8" xsd:string property_value: alternative:term "PHHI" xsd:string property_value: alternative:term "sulfonylurea receptor (hyperinsulinemia)" xsd:string property_value: alternative:term "SUR" xsd:string property_value: alternative:term "SUR1" xsd:string property_value: alternative:term "TNDM2" xsd:string property_value: symbol "ABCC8" xsd:string [Term] id: Orphanet:117673 name: ATP-binding cassette, sub-family C (CFTR/MRP), member 9 xref: ENSEMBL:ENSG00000069431 xref: GENATLAS:ABCC9 xref: HGNC:60 xref: OMIM:601439 xref: REACTOME:O60706 xref: UNIPROTKB/SWISSPROT:O60706 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1517 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypertrichotic osteochondrodysplasia, Cantu type relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317343 Orphanet:334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial atrial fibrillation relationship: Orphanet:317343 Orphanet:965 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acromegaloid facial appearance syndrome property_value: alternative:term "CMD1O" xsd:string property_value: alternative:term "sulfonylurea receptor 2" xsd:string property_value: alternative:term "SUR2" xsd:string property_value: symbol "ABCC9" xsd:string [Term] id: Orphanet:117677 name: ATP-binding cassette, sub-family D (ALD), member 1 xref: ENSEMBL:ENSG00000101986 xref: GENATLAS:ABCD1 xref: HGNC:61 xref: OMIM:300371 xref: REACTOME:P33897 xref: UNIPROTKB/SWISSPROT:P33897 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:139396 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked cerebral adrenoleukodystrophy relationship: Orphanet:317343 Orphanet:139399 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adrenomyeloneuropathy relationship: Orphanet:317349 Orphanet:369942 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CADDS property_value: alternative:term "adrenoleukodystrophy" xsd:string property_value: alternative:term "ALD" xsd:string property_value: alternative:term "ALDP" xsd:string property_value: alternative:term "AMN" xsd:string property_value: symbol "ABCD1" xsd:string [Term] id: Orphanet:117683 name: ATP-binding cassette, sub-family G (WHITE), member 5 xref: ENSEMBL:ENSG00000138075 xref: GENATLAS:ABCG5 xref: HGNC:13886 xref: OMIM:605459 xref: REACTOME:Q9H222 xref: UNIPROTKB/SWISSPROT:Q9H222 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:2882 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Sitosterolemia property_value: alternative:term "ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1)" xsd:string property_value: alternative:term "sterolin 1" xsd:string property_value: alternative:term "STSL" xsd:string property_value: symbol "ABCG5" xsd:string [Term] id: Orphanet:117685 name: ATP-binding cassette, sub-family G (WHITE), member 8 xref: ENSEMBL:ENSG00000143921 xref: GENATLAS:ABCG8 xref: HGNC:13887 xref: OMIM:605460 xref: REACTOME:Q9H221 xref: UNIPROTKB/SWISSPROT:Q9H221 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:2882 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Sitosterolemia property_value: alternative:term "ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)" xsd:string property_value: alternative:term "gallbladder disease 4" xsd:string property_value: alternative:term "GBD4" xsd:string property_value: alternative:term "sterolin 2" xsd:string property_value: symbol "ABCG8" xsd:string [Term] id: Orphanet:117687 name: abhydrolase domain containing 5 xref: ENSEMBL:ENSG00000011198 xref: GENATLAS:ABHD5 xref: HGNC:21396 xref: OMIM:604780 xref: REACTOME:Q8WTS1 xref: UNIPROTKB/SWISSPROT:Q8WTS1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98907 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dorfman-Chanarin disease property_value: alternative:term "CGI-58" xsd:string property_value: alternative:term "NCIE2" xsd:string property_value: symbol "ABHD5" xsd:string [Term] id: Orphanet:117691 name: c-abl oncogene 1, non-receptor tyrosine kinase xref: ENSEMBL:ENSG00000097007 xref: GENATLAS:ABL1 xref: HGNC:76 xref: IUPHAR:1923 xref: OMIM:189980 xref: REACTOME:P00519 xref: UNIPROTKB/SWISSPROT:P00519 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:521 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chronic myeloid leukemia relationship: Orphanet:317348 Orphanet:99860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor B-cell acute lymphoblastic leukemia relationship: Orphanet:317348 Orphanet:99861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor T-cell acute lymphoblastic leukemia property_value: alternative:term "ABL" xsd:string property_value: alternative:term "c-ABL" xsd:string property_value: alternative:term "c-abl oncogene 1, receptor tyrosine kinase" xsd:string property_value: alternative:term "JTK7" xsd:string property_value: alternative:term "p150" xsd:string property_value: alternative:term "v-abl" xsd:string property_value: alternative:term "V-abl Abelson murine leukemia viral oncogene homolog 1" xsd:string property_value: symbol "ABL1" xsd:string [Term] id: Orphanet:1177 name: Early-onset cerebellar ataxia with retained tendon reflexes xref: ICD10:G11.1 xref: MESH:C535633 xref: OMIM:212895 xref: UMLS:C0393520 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98098 ! Autosomal recessive degenerative and progressive cerebellar ataxia property_value: alternative:term "EOCA" xsd:string property_value: alternative:term "EOCARR" xsd:string property_value: alternative:term "Harding ataxia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of the cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss." xsd:string [Term] id: Orphanet:117700 name: acyl-CoA dehydrogenase, C-4 to C-12 straight chain xref: ENSEMBL:ENSG00000117054 xref: GENATLAS:ACADM xref: HGNC:89 xref: OMIM:607008 xref: REACTOME:P11310 xref: UNIPROTKB/SWISSPROT:P11310 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:42 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Medium chain acyl-CoA dehydrogenase deficiency property_value: alternative:term "ACAD1" xsd:string property_value: alternative:term "Acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain" xsd:string property_value: alternative:term "MCAD" xsd:string property_value: alternative:term "MCADH" xsd:string property_value: symbol "ACADM" xsd:string [Term] id: Orphanet:117705 name: acyl-CoA dehydrogenase, C-2 to C-3 short chain xref: ENSEMBL:ENSG00000122971 xref: GENATLAS:ACADS xref: HGNC:90 xref: OMIM:606885 xref: REACTOME:P16219 xref: UNIPROTKB/SWISSPROT:P16219 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:26792 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Short chain acyl-CoA dehydrogenase deficiency property_value: alternative:term "ACAD3" xsd:string property_value: alternative:term "Acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain" xsd:string property_value: alternative:term "SCAD" xsd:string property_value: symbol "ACADS" xsd:string [Term] id: Orphanet:117709 name: acyl-CoA dehydrogenase, short/branched chain xref: ENSEMBL:ENSG00000196177 xref: GENATLAS:ACADSB xref: HGNC:91 xref: OMIM:600301 xref: REACTOME:P45954 xref: UNIPROTKB/SWISSPROT:P45954 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79157 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 2-methylbutyryl-CoA dehydrogenase deficiency property_value: alternative:term "ACAD7" xsd:string property_value: alternative:term "Acyl-Coenzyme A dehydrogenase, short/branched chain" xsd:string property_value: alternative:term "SBCAD" xsd:string property_value: symbol "ACADSB" xsd:string [Term] id: Orphanet:117713 name: acyl-CoA dehydrogenase, very long chain xref: ENSEMBL:ENSG00000072778 xref: GENATLAS:ACADVL xref: HGNC:92 xref: OMIM:609575 xref: REACTOME:P49748 xref: UNIPROTKB/SWISSPROT:P49748 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:26793 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Very long chain acyl-CoA dehydrogenase deficiency property_value: alternative:term "ACAD6" xsd:string property_value: alternative:term "Acyl-Coenzyme A dehydrogenase, very long chain" xsd:string property_value: alternative:term "LCACD" xsd:string property_value: alternative:term "VLCAD" xsd:string property_value: symbol "ACADVL" xsd:string [Term] id: Orphanet:117718 name: aggrecan xref: ENSEMBL:ENSG00000157766 xref: GENATLAS:ACAN xref: HGNC:319 xref: OMIM:155760 xref: REACTOME:P16112 xref: UNIPROTKB/SWISSPROT:P16112 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171866 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spondyloepimetaphyseal dysplasia, aggrecan type relationship: Orphanet:317343 Orphanet:251262 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial osteochondritis dissecans relationship: Orphanet:317343 Orphanet:93283 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spondyloepiphyseal dysplasia, Kimberley type property_value: alternative:term "AGC1" xsd:string property_value: alternative:term "aggrecan 1" xsd:string property_value: alternative:term "aggrecan proteoglycan" xsd:string property_value: alternative:term "chondroitin sulfate proteoglycan 1" xsd:string property_value: alternative:term "CSPG1" xsd:string property_value: alternative:term "CSPGCP" xsd:string property_value: alternative:term "MSK16" xsd:string property_value: symbol "ACAN" xsd:string [Term] id: Orphanet:117724 name: acetyl-CoA acetyltransferase 1 xref: ENSEMBL:ENSG00000075239 xref: GENATLAS:ACAT1 xref: HGNC:93 xref: IUPHAR:2435 xref: OMIM:607809 xref: REACTOME:P24752 xref: UNIPROTKB/SWISSPROT:P24752 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:134 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ketoacidosis due to beta-ketothiolase deficiency property_value: alternative:term "ACAT" xsd:string property_value: alternative:term "acetoacetyl Coenzyme A thiolase" xsd:string property_value: alternative:term "acetyl-Coenzyme A acetyltransferase 1" xsd:string property_value: alternative:term "Acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase)" xsd:string property_value: alternative:term "THIL" xsd:string property_value: symbol "ACAT1" xsd:string [Term] id: Orphanet:117728 name: angiotensin I converting enzyme xref: ENSEMBL:ENSG00000159640 xref: GENATLAS:ACE xref: HGNC:2707 xref: IUPHAR:1613 xref: OMIM:106180 xref: REACTOME:P12821 xref: UNIPROTKB/SWISSPROT:P12821 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:97369 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Renal tubular dysgenesis of genetic origin property_value: alternative:term "ACE1" xsd:string property_value: alternative:term "Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1" xsd:string property_value: alternative:term "CD143" xsd:string property_value: alternative:term "DCP1" xsd:string property_value: alternative:term "peptidyl-dipeptidase A" xsd:string property_value: symbol "ACE" xsd:string [Term] id: Orphanet:117738 name: acyl-CoA oxidase 1, palmitoyl xref: ENSEMBL:ENSG00000161533 xref: GENATLAS:ACOX1 xref: HGNC:119 xref: OMIM:609751 xref: REACTOME:Q15067 xref: UNIPROTKB/SWISSPROT:Q15067 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2971 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Peroxisomal acyl-CoA oxidase deficiency property_value: alternative:term "Acyl-Coenzyme A oxidase 1, palmitoyl" xsd:string property_value: alternative:term "PALMCOX" xsd:string property_value: symbol "ACOX1" xsd:string [Term] id: Orphanet:117741 name: acid phosphatase 2, lysosomal xref: ENSEMBL:ENSG00000134575 xref: GENATLAS:ACP2 xref: HGNC:123 xref: OMIM:171650 xref: UNIPROTKB/SWISSPROT:P11117 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:35121 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acid phosphatase deficiency property_value: symbol "ACP2" xsd:string [Term] id: Orphanet:117743 name: acyl-CoA synthetase long-chain family member 4 xref: ENSEMBL:ENSG00000068366 xref: GENATLAS:ACSL4 xref: HGNC:3571 xref: OMIM:300157 xref: REACTOME:O60488 xref: UNIPROTKB/SWISSPROT:O60488 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit relationship: Orphanet:317349 Orphanet:86818 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis property_value: alternative:term "ACS4" xsd:string property_value: alternative:term "FACL4" xsd:string property_value: alternative:term "fatty-acid-Coenzyme A ligase, long-chain 4" xsd:string property_value: alternative:term "LACS4" xsd:string property_value: alternative:term "lignoceroyl-CoA synthase" xsd:string property_value: alternative:term "long-chain fatty-acid-Coenzyme A ligase 4" xsd:string property_value: alternative:term "mental retardation, X-linked 63" xsd:string property_value: alternative:term "mental retardation, X-linked 68" xsd:string property_value: alternative:term "MRX63" xsd:string property_value: alternative:term "MRX68" xsd:string property_value: symbol "ACSL4" xsd:string [Term] id: Orphanet:117750 name: actin, alpha 1, skeletal muscle xref: ENSEMBL:ENSG00000143632 xref: GENATLAS:ACTA1 xref: HGNC:129 xref: OMIM:102610 xref: REACTOME:P68133 xref: UNIPROTKB/SWISSPROT:P68133 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171430 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe congenital nemaline myopathy relationship: Orphanet:317343 Orphanet:171433 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intermediate nemaline myopathy relationship: Orphanet:317343 Orphanet:171436 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Typical nemaline myopathy relationship: Orphanet:317343 Orphanet:171439 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Childhood-onset nemaline myopathy relationship: Orphanet:317343 Orphanet:2020 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital fiber-type disproportion myopathy relationship: Orphanet:317343 Orphanet:98904 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital myopathy with excess of thin filaments property_value: alternative:term "ACTA" xsd:string property_value: alternative:term "NEM3" xsd:string property_value: alternative:term "nemaline myopathy type 3" xsd:string property_value: symbol "ACTA1" xsd:string [Term] id: Orphanet:117753 name: actin, alpha, cardiac muscle 1 xref: ENSEMBL:ENSG00000159251 xref: GENATLAS:ACTC1 xref: HGNC:143 xref: OMIM:102540 xref: REACTOME:P68032 xref: UNIPROTKB/SWISSPROT:P68032 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317343 Orphanet:99103 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atrial septal defect, ostium secundum type relationship: Orphanet:317345 Orphanet:54260 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Left ventricular noncompaction property_value: alternative:term "ACTC" xsd:string property_value: alternative:term "actin, alpha, cardiac muscle" xsd:string property_value: alternative:term "CMD1R" xsd:string property_value: symbol "ACTC1" xsd:string [Term] id: Orphanet:117757 name: actinin, alpha 4 xref: ENSEMBL:ENSG00000130402 xref: GENATLAS:ACTN4 xref: HGNC:166 xref: OMIM:604638 xref: REACTOME:O43707 xref: UNIPROTKB/SWISSPROT:O43707 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93213 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis property_value: alternative:term "focal segmental glomerulosclerosis 1" xsd:string property_value: alternative:term "FSGS1" xsd:string property_value: symbol "ACTN4" xsd:string [Term] id: Orphanet:117759 name: activin A receptor, type I xref: ENSEMBL:ENSG00000115170 xref: GENATLAS:ACVR1 xref: HGNC:171 xref: IUPHAR:1785 xref: OMIM:102576 xref: UNIPROTKB/SWISSPROT:Q04771 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:337 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fibrodysplasia ossificans progressiva property_value: alternative:term "ACVR1A" xsd:string property_value: alternative:term "ACVRLK2" xsd:string property_value: alternative:term "ALK2" xsd:string property_value: alternative:term "SKR1" xsd:string property_value: symbol "ACVR1" xsd:string [Term] id: Orphanet:117764 name: activin A receptor type II-like 1 xref: ENSEMBL:ENSG00000139567 xref: GENATLAS:ACVRL1 xref: HGNC:175 xref: IUPHAR:1784 xref: OMIM:601284 xref: UNIPROTKB/SWISSPROT:P37023 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:275777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Heritable pulmonary arterial hypertension relationship: Orphanet:317343 Orphanet:774 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary hemorrhagic telangiectasia property_value: alternative:term "ACVRLK1" xsd:string property_value: alternative:term "ALK1" xsd:string property_value: alternative:term "HHT" xsd:string property_value: alternative:term "HHT2" xsd:string property_value: alternative:term "ORW2" xsd:string property_value: symbol "ACVRL1" xsd:string [Term] id: Orphanet:117771 name: adenosine deaminase xref: ENSEMBL:ENSG00000196839 xref: GENATLAS:ADA xref: HGNC:186 xref: IUPHAR:1230 xref: OMIM:608958 xref: REACTOME:P00813 xref: UNIPROTKB/SWISSPROT:P00813 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:277 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe combined immunodeficiency due to adenosine deaminase deficiency relationship: Orphanet:317343 Orphanet:39041 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Omenn syndrome property_value: symbol "ADA" xsd:string [Term] id: Orphanet:117773 name: ADAM metallopeptidase with thrombospondin type 1 motif, 10 xref: ENSEMBL:ENSG00000142303 xref: GENATLAS:ADAMTS10 xref: HGNC:13201 xref: OMIM:608990 xref: UNIPROTKB/SWISSPROT:Q9H324 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3449 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Weill-Marchesani syndrome property_value: alternative:term "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10" xsd:string property_value: alternative:term "ADAM-TS10" xsd:string property_value: symbol "ADAMTS10" xsd:string [Term] id: Orphanet:117776 name: ADAM metallopeptidase with thrombospondin type 1 motif, 13 xref: ENSEMBL:ENSG00000160323 xref: GENATLAS:ADAMTS13 xref: HGNC:1366 xref: OMIM:604134 xref: UNIPROTKB/SWISSPROT:Q76LX8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93583 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency property_value: alternative:term "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13" xsd:string property_value: alternative:term "C9orf8" xsd:string property_value: alternative:term "DKFZp434C2322" xsd:string property_value: alternative:term "FLJ42993" xsd:string property_value: alternative:term "MGC118899" xsd:string property_value: alternative:term "MGC118900" xsd:string property_value: alternative:term "TTP" xsd:string property_value: alternative:term "vWF-CP" xsd:string property_value: alternative:term "VWFCP" xsd:string property_value: symbol "ADAMTS13" xsd:string [Term] id: Orphanet:117780 name: ADAM metallopeptidase with thrombospondin type 1 motif, 2 xref: ENSEMBL:ENSG00000087116 xref: GENATLAS:ADAMTS2 xref: HGNC:218 xref: OMIM:604539 xref: REACTOME:O95450 xref: UNIPROTKB/SWISSPROT:O95450 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1901 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos syndrome, dermatosparaxis type property_value: alternative:term "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2" xsd:string property_value: alternative:term "ADAM-TS2" xsd:string property_value: alternative:term "ADAMTS-3" xsd:string property_value: alternative:term "hPCPNI" xsd:string property_value: alternative:term "NPI" xsd:string property_value: alternative:term "PCINP" xsd:string property_value: alternative:term "procollagen I N-proteinase" xsd:string property_value: alternative:term "procollagen N-endopeptidase" xsd:string property_value: symbol "ADAMTS2" xsd:string [Term] id: Orphanet:117785 name: phosphoglycerate dehydrogenase xref: ENSEMBL:ENSG00000092621 xref: GENATLAS:PHGDH xref: HGNC:8923 xref: OMIM:606879 xref: REACTOME:O43175 xref: UNIPROTKB/SWISSPROT:O43175 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79351 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 3-phosphoglycerate dehydrogenase deficiency property_value: alternative:term "PDG" xsd:string property_value: alternative:term "PGDH" xsd:string property_value: alternative:term "SERA" xsd:string property_value: symbol "PHGDH" xsd:string [Term] id: Orphanet:117790 name: phosphorylase kinase, alpha 1 (muscle) xref: ENSEMBL:ENSG00000067177 xref: GENATLAS:PHKA1 xref: HGNC:8925 xref: OMIM:311870 xref: REACTOME:P46020 xref: UNIPROTKB/SWISSPROT:P46020 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:715 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Glycogen storage disease due to muscle phosphorylase kinase deficiency property_value: alternative:term "PHKA" xsd:string property_value: symbol "PHKA1" xsd:string [Term] id: Orphanet:117793 name: phosphorylase kinase, alpha 2 (liver) xref: ENSEMBL:ENSG00000044446 xref: GENATLAS:PHKA2 xref: HGNC:8926 xref: OMIM:300798 xref: REACTOME:P46019 xref: UNIPROTKB/SWISSPROT:P46019 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:264580 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to liver phosphorylase kinase deficiency property_value: alternative:term "PHK" xsd:string property_value: alternative:term "PYK" xsd:string property_value: symbol "PHKA2" xsd:string [Term] id: Orphanet:117797 name: phosphorylase kinase, beta xref: ENSEMBL:ENSG00000102893 xref: GENATLAS:PHKB xref: HGNC:8927 xref: OMIM:172490 xref: REACTOME:Q93100 xref: UNIPROTKB/SWISSPROT:Q93100 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79240 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency property_value: symbol "PHKB" xsd:string [Term] id: Orphanet:117799 name: paired-like homeobox 2a xref: ENSEMBL:ENSG00000165462 xref: GENATLAS:PHOX2A xref: HGNC:691 xref: OMIM:602753 xref: UNIPROTKB/SWISSPROT:O14813 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:45358 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital fibrosis of extraocular muscles property_value: alternative:term "ARIX" xsd:string property_value: alternative:term "CFEOM2" xsd:string property_value: alternative:term "FEOM2" xsd:string property_value: alternative:term "paired-like (aristaless) homeobox 2a" xsd:string property_value: alternative:term "PMX2A" xsd:string property_value: symbol "PHOX2A" xsd:string [Term] id: Orphanet:1178 name: Ataxia - tapetoretinal degeneration xref: OMIM:272600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:183518 ! Rare hereditary ataxia [Term] id: Orphanet:117805 name: paired-like homeobox 2b xref: ENSEMBL:ENSG00000109132 xref: GENATLAS:PHOX2B xref: HGNC:9143 xref: OMIM:603851 xref: UNIPROTKB/SWISSPROT:Q99453 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:661 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ondine syndrome relationship: Orphanet:317343 Orphanet:99803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Haddad syndrome relationship: Orphanet:317345 Orphanet:635 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Neuroblastoma property_value: alternative:term "NBPhox" xsd:string property_value: alternative:term "paired mesoderm homeobox 2b" xsd:string property_value: alternative:term "Phox2b" xsd:string property_value: alternative:term "PMX2B" xsd:string property_value: symbol "PHOX2B" xsd:string [Term] id: Orphanet:117810 name: phytanoyl-CoA 2-hydroxylase xref: ENSEMBL:ENSG00000107537 xref: GENATLAS:PHYH xref: HGNC:8940 xref: OMIM:602026 xref: REACTOME:O14832 xref: UNIPROTKB/SWISSPROT:O14832 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:773 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Refsum disease property_value: alternative:term "PAHX" xsd:string property_value: alternative:term "PHYH1" xsd:string property_value: alternative:term "phytanoyl-CoA dioxygenase" xsd:string property_value: alternative:term "phytanoyl-CoA hydroxylase" xsd:string property_value: alternative:term "phytanoyl-CoA hydroxylase (Refsum disease)" xsd:string property_value: alternative:term "RD" xsd:string property_value: alternative:term "Refsum disease" xsd:string property_value: symbol "PHYH" xsd:string [Term] id: Orphanet:117818 name: phosphatidylinositol glycan anchor biosynthesis, class M xref: ENSEMBL:ENSG00000143315 xref: GENATLAS:PIGM xref: HGNC:18858 xref: OMIM:610273 xref: REACTOME:Q9H3S5 xref: UNIPROTKB/SWISSPROT:Q9H3S5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:83639 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency property_value: alternative:term "dol-P-Man dependent GPI mannosyltransferase" xsd:string property_value: alternative:term "DPM:GlcN-(acyl-)PI mannosyltransferase" xsd:string property_value: alternative:term "GPI mannosyltransferase 1" xsd:string property_value: alternative:term "GPI-MT-I" xsd:string property_value: alternative:term "phosphatidylinositol glycan, class M" xsd:string property_value: symbol "PIGM" xsd:string [Term] id: Orphanet:117820 name: phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha xref: ENSEMBL:ENSG00000121879 xref: GENATLAS:PIK3CA xref: HGNC:8975 xref: IUPHAR:2153 xref: OMIM:171834 xref: REACTOME:P42336 xref: UNIPROTKB/SWISSPROT:P42336 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:201 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cowden syndrome relationship: Orphanet:317344 Orphanet:140944 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CLOVE syndrome relationship: Orphanet:317344 Orphanet:295239 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Macrodactyly of fingers, unilateral relationship: Orphanet:317344 Orphanet:314662 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Segmental progressive overgrowth syndrome with fibroadipose hyperplasia relationship: Orphanet:317344 Orphanet:60040 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Megalencephaly-capillary malformation-polymicrogyria syndrome relationship: Orphanet:317344 Orphanet:99802 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemimegalencephaly relationship: Orphanet:317347 Orphanet:144 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary nonpolyposis colon cancer property_value: alternative:term "Phosphoinositide-3-kinase, catalytic, alpha polypeptide" xsd:string property_value: alternative:term "PI3K" xsd:string property_value: symbol "PIK3CA" xsd:string [Term] id: Orphanet:117822 name: PTEN induced putative kinase 1 xref: ENSEMBL:ENSG00000158828 xref: GENATLAS:PINK1 xref: HGNC:14581 xref: IUPHAR:2161 xref: OMIM:608309 xref: UNIPROTKB/SWISSPROT:Q9BXM7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2828 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Young adult-onset Parkinsonism property_value: alternative:term "PARK6" xsd:string property_value: alternative:term "Parkinson disease (autosomal recessive) 6" xsd:string property_value: symbol "PINK1" xsd:string [Term] id: Orphanet:117825 name: phosphoinositide kinase, FYVE finger containing xref: ENSEMBL:ENSG00000115020 xref: GENATLAS:PIP5K3 xref: HGNC:23785 xref: OMIM:609414 xref: REACTOME:Q9Y2I7 xref: UNIPROTKB/SWISSPROT:Q9Y2I7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98970 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fleck corneal dystrophy property_value: alternative:term "FAB1" xsd:string property_value: alternative:term "KIAA0981" xsd:string property_value: alternative:term "MGC40423" xsd:string property_value: alternative:term "p235" xsd:string property_value: alternative:term "phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III" xsd:string property_value: alternative:term "PIKfyve" xsd:string property_value: alternative:term "PIP5K" xsd:string property_value: alternative:term "PIP5K3" xsd:string property_value: alternative:term "ZFYVE29" xsd:string property_value: alternative:term "zinc finger, FYVE domain containing 29" xsd:string property_value: symbol "PIKFYVE" xsd:string [Term] id: Orphanet:117832 name: paired-like homeodomain 2 xref: ENSEMBL:ENSG00000164093 xref: GENATLAS:PITX2 xref: HGNC:9005 xref: OMIM:601542 xref: UNIPROTKB/SWISSPROT:Q99697 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:708 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Peters anomaly relationship: Orphanet:317343 Orphanet:782 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Axenfeld-Rieger syndrome relationship: Orphanet:317343 Orphanet:91481 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ring dermoid of cornea relationship: Orphanet:317343 Orphanet:91483 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rieger anomaly relationship: Orphanet:317343 Orphanet:98978 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Axenfeld anomaly property_value: alternative:term "ARP1" xsd:string property_value: alternative:term "Brx1" xsd:string property_value: alternative:term "IGDS" xsd:string property_value: alternative:term "IHG2" xsd:string property_value: alternative:term "IRID2" xsd:string property_value: alternative:term "Otlx2" xsd:string property_value: alternative:term "paired-like homeodomain transcription factor 2" xsd:string property_value: alternative:term "RGS" xsd:string property_value: alternative:term "RIEG" xsd:string property_value: alternative:term "RIEG1" xsd:string property_value: alternative:term "RS" xsd:string property_value: symbol "PITX2" xsd:string [Term] id: Orphanet:117844 name: paired-like homeodomain 3 xref: ENSEMBL:ENSG00000107859 xref: GENATLAS:PITX3 xref: HGNC:9006 xref: OMIM:602669 xref: UNIPROTKB/SWISSPROT:O75364 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:162 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cataract-glaucoma relationship: Orphanet:317343 Orphanet:88632 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial ocular anterior segment mesenchymal dysgenesis relationship: Orphanet:317343 Orphanet:98993 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Posterior polar cataract property_value: alternative:term "anterior segment mesenchymal dysgenesis" xsd:string property_value: alternative:term "ASMD" xsd:string property_value: alternative:term "paired-like homeodomain transcription factor 3" xsd:string property_value: symbol "PITX3" xsd:string [Term] id: Orphanet:117846 name: polycystic kidney disease 1 (autosomal dominant) xref: ENSEMBL:ENSG00000008710 xref: GENATLAS:PKD1 xref: HGNC:9008 xref: OMIM:601313 xref: UNIPROTKB/SWISSPROT:P98161 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:88924 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis property_value: alternative:term "PBP" xsd:string property_value: alternative:term "Pc-1" xsd:string property_value: alternative:term "polycystin 1" xsd:string property_value: alternative:term "transient receptor potential cation channel, subfamily P, member 1" xsd:string property_value: alternative:term "TRPP1" xsd:string property_value: symbol "PKD1" xsd:string [Term] id: Orphanet:117853 name: polycystic kidney and hepatic disease 1 (autosomal recessive) xref: ENSEMBL:ENSG00000170927 xref: GENATLAS:PKHD1 xref: HGNC:9016 xref: OMIM:606702 xref: UNIPROTKB/SWISSPROT:P08F94 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:731 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive polycystic kidney disease property_value: alternative:term "ARPKD" xsd:string property_value: alternative:term "FCYT" xsd:string property_value: alternative:term "fibrocystin" xsd:string property_value: alternative:term "polyductin" xsd:string property_value: alternative:term "TIG multiple domains 1" xsd:string property_value: alternative:term "TIGM1" xsd:string property_value: alternative:term "tigmin" xsd:string property_value: symbol "PKHD1" xsd:string [Term] id: Orphanet:117861 name: pyruvate kinase, liver and RBC xref: ENSEMBL:ENSG00000143627 xref: GENATLAS:PKLR xref: HGNC:9020 xref: OMIM:609712 xref: REACTOME:P30613 xref: UNIPROTKB/SWISSPROT:P30613 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:766 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemolytic anemia due to red cell pyruvate kinase deficiency property_value: symbol "PKLR" xsd:string [Term] id: Orphanet:117868 name: plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) xref: ENSEMBL:ENSG00000081277 xref: GENATLAS:PKP1 xref: HGNC:9023 xref: OMIM:601975 xref: REACTOME:Q13835 xref: UNIPROTKB/SWISSPROT:Q13835 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:158668 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epidermolysis bullosa simplex due to plakophilin deficiency property_value: alternative:term "B6P" xsd:string property_value: symbol "PKP1" xsd:string [Term] id: Orphanet:117871 name: plakophilin 2 xref: ENSEMBL:ENSG00000057294 xref: GENATLAS:PKP2 xref: HGNC:9024 xref: OMIM:602861 xref: UNIPROTKB/SWISSPROT:Q99959 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:293888 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, left dominant form relationship: Orphanet:317343 Orphanet:293899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, biventricular form relationship: Orphanet:317343 Orphanet:293910 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, right dominant form property_value: symbol "PKP2" xsd:string [Term] id: Orphanet:117873 name: phospholipase A2, group VI (cytosolic, calcium-independent) xref: ENSEMBL:ENSG00000184381 xref: GENATLAS:PLA2G6 xref: HGNC:9039 xref: OMIM:603604 xref: REACTOME:O60733 xref: UNIPROTKB/SWISSPROT:O60733 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:199351 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adult-onset dystonia-parkinsonism relationship: Orphanet:317343 Orphanet:35069 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile neuroaxonal dystrophy property_value: alternative:term "iPLA2" xsd:string property_value: alternative:term "iPLA2beta" xsd:string property_value: alternative:term "NBIA2" xsd:string property_value: alternative:term "Neurodegeneration with brain iron accumulation 2" xsd:string property_value: alternative:term "PARK14" xsd:string property_value: alternative:term "PNPLA9" xsd:string property_value: symbol "PLA2G6" xsd:string [Term] id: Orphanet:117877 name: plectin xref: ENSEMBL:ENSG00000178209 xref: GENATLAS:PLEC xref: HGNC:9069 xref: OMIM:601282 xref: REACTOME:Q15149 xref: UNIPROTKB/SWISSPROT:Q15149 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:158684 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epidermolysis bullosa simplex with pyloric atresia relationship: Orphanet:317343 Orphanet:254361 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive limb-girdle muscular dystrophy type 2Q relationship: Orphanet:317343 Orphanet:257 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epidermolysis bullosa simplex with muscular dystrophy relationship: Orphanet:317343 Orphanet:79401 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epidermolysis bullosa simplex, Ogna type property_value: alternative:term "EBS1" xsd:string property_value: alternative:term "epidermolysis bullosa simplex 1 (Ogna)" xsd:string property_value: alternative:term "PCN" xsd:string property_value: alternative:term "PLEC1" xsd:string property_value: alternative:term "plectin 1, intermediate filament binding protein 500kDa" xsd:string property_value: alternative:term "plectin 1, intermediate filament binding protein, 500kD" xsd:string property_value: alternative:term "PLTN" xsd:string property_value: symbol "PLEC" xsd:string [Term] id: Orphanet:117882 name: pleckstrin homology domain containing, family G (with RhoGef domain) member 4 xref: ENSEMBL:ENSG00000196155 xref: GENATLAS:PLEKHG4 xref: HGNC:24501 xref: OMIM:609526 xref: UNIPROTKB/SWISSPROT:Q58EX7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98765 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 4 property_value: alternative:term "ARHGEF44" xsd:string property_value: alternative:term "DKFZP434I216" xsd:string property_value: alternative:term "puratrophin-1" xsd:string property_value: alternative:term "SCA4" xsd:string property_value: alternative:term "spinocerebellar ataxia 4" xsd:string property_value: symbol "PLEKHG4" xsd:string [Term] id: Orphanet:117886 name: plasminogen xref: ENSEMBL:ENSG00000122194 xref: GENATLAS:PLG xref: HGNC:9071 xref: IUPHAR:2394 xref: OMIM:173350 xref: REACTOME:P00747 xref: UNIPROTKB/SWISSPROT:P00747 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:722 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypoplasminogenemia relationship: Orphanet:317343 Orphanet:97231 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ligneous conjunctivitis property_value: symbol "PLG" xsd:string [Term] id: Orphanet:117888 name: procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 xref: ENSEMBL:ENSG00000083444 xref: GENATLAS:PLOD1 xref: HGNC:9081 xref: OMIM:153454 xref: REACTOME:Q02809 xref: UNIPROTKB/SWISSPROT:Q02809 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1900 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos syndrome, kyphoscoliotic type property_value: alternative:term "LH1" xsd:string property_value: alternative:term "LLH" xsd:string property_value: alternative:term "lysyl hydroxlase 1" xsd:string property_value: alternative:term "PLOD" xsd:string property_value: alternative:term "procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)" xsd:string property_value: alternative:term "Procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1" xsd:string property_value: symbol "PLOD1" xsd:string [Term] id: Orphanet:117892 name: procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 xref: ENSEMBL:ENSG00000152952 xref: GENATLAS:PLOD2 xref: HGNC:9082 xref: OMIM:601865 xref: REACTOME:O00469 xref: UNIPROTKB/SWISSPROT:O00469 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2771 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bruck syndrome property_value: alternative:term "LH2" xsd:string property_value: alternative:term "lysyl hydroxlase 2" xsd:string property_value: alternative:term "procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2" xsd:string property_value: symbol "PLOD2" xsd:string [Term] id: Orphanet:117894 name: proteolipid protein 1 xref: ENSEMBL:ENSG00000123560 xref: GENATLAS:PLP1 xref: HGNC:9086 xref: OMIM:300401 xref: UNIPROTKB/SWISSPROT:P60201 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280210 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pelizaeus-Merzbacher disease, connatal form relationship: Orphanet:317343 Orphanet:280219 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pelizaeus-Merzbacher disease, classic form relationship: Orphanet:317343 Orphanet:280224 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pelizaeus-Merzbacher disease, transitional form relationship: Orphanet:317343 Orphanet:280229 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pelizaeus-Merzbacher disease in female carriers relationship: Orphanet:317343 Orphanet:280234 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Null syndrome relationship: Orphanet:317343 Orphanet:99015 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spastic paraplegia type 2 property_value: alternative:term "GPM6C" xsd:string property_value: alternative:term "Pelizaeus-Merzbacher disease" xsd:string property_value: alternative:term "PLP" xsd:string property_value: alternative:term "Proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)" xsd:string property_value: alternative:term "spastic paraplegia 2, uncomplicated" xsd:string property_value: alternative:term "SPG2" xsd:string property_value: symbol "PLP1" xsd:string [Term] id: Orphanet:117898 name: promyelocytic leukemia xref: ENSEMBL:ENSG00000140464 xref: GENATLAS:PML xref: HGNC:9113 xref: OMIM:102578 xref: REACTOME:P29590 xref: UNIPROTKB/SWISSPROT:P29590 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:520 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute promyelocytic leukemia property_value: alternative:term "MYL" xsd:string property_value: alternative:term "RNF71" xsd:string property_value: alternative:term "TRIM19" xsd:string property_value: symbol "PML" xsd:string [Term] id: Orphanet:1179 name: Benign paroxysmal tonic upgaze of childhood with ataxia xref: OMIM:168885 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:306768 ! Rare paroxysmal movement disorder property_value: alternative:term "Ouvrier-Billson syndrome" xsd:string [Term] id: Orphanet:117903 name: phosphomannomutase 2 xref: ENSEMBL:ENSG00000140650 xref: GENATLAS:PMM2 xref: HGNC:9115 xref: OMIM:601785 xref: REACTOME:O15305 xref: UNIPROTKB/SWISSPROT:O15305 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79318 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! PMM2-CDG property_value: alternative:term "CDG1" xsd:string property_value: alternative:term "CDG1a" xsd:string property_value: alternative:term "CDGS" xsd:string property_value: alternative:term "phosphomannose isomerase 1" xsd:string property_value: alternative:term "PMI" xsd:string property_value: alternative:term "PMI1" xsd:string property_value: symbol "PMM2" xsd:string [Term] id: Orphanet:117908 name: peripheral myelin protein 22 xref: ENSEMBL:ENSG00000109099 xref: GENATLAS:PMP22 xref: HGNC:9118 xref: OMIM:601097 xref: UNIPROTKB/SWISSPROT:Q01453 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101081 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Charcot-Marie-Tooth disease type 1A relationship: Orphanet:317343 Orphanet:3115 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Roussy-Lévy syndrome relationship: Orphanet:317343 Orphanet:640 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary neuropathy with liability to pressure palsies relationship: Orphanet:317343 Orphanet:64748 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dejerine-Sottas syndrome relationship: Orphanet:317343 Orphanet:90658 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Charcot-Marie-Tooth disease type 1E relationship: Orphanet:317345 Orphanet:98916 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute inflammatory demyelinating polyradiculoneuropathy relationship: Orphanet:317349 Orphanet:640 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary neuropathy with liability to pressure palsies property_value: alternative:term "GAS-3" xsd:string property_value: alternative:term "HNPP" xsd:string property_value: alternative:term "Sp110" xsd:string property_value: symbol "PMP22" xsd:string [Term] id: Orphanet:117913 name: PMS1 postmeiotic segregation increased 1 (S. cerevisiae) xref: ENSEMBL:ENSG00000064933 xref: GENATLAS:PMS1 xref: HGNC:9121 xref: OMIM:600258 xref: UNIPROTKB/SWISSPROT:P54277 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:144 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary nonpolyposis colon cancer property_value: alternative:term "PMSL1" xsd:string property_value: alternative:term "postmeiotic segregation increased (S. cerevisiae) 1" xsd:string property_value: symbol "PMS1" xsd:string [Term] id: Orphanet:117916 name: PMS2 postmeiotic segregation increased 2 (S. cerevisiae) xref: ENSEMBL:ENSG00000122512 xref: GENATLAS:PMS2 xref: HGNC:9122 xref: OMIM:600259 xref: UNIPROTKB/SWISSPROT:P54278 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:144 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary nonpolyposis colon cancer relationship: Orphanet:317343 Orphanet:252202 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Constitutional mismatch repair deficiency syndrome relationship: Orphanet:317343 Orphanet:99817 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Non-polyposis Turcot syndrome property_value: alternative:term "H_DJ0042M02.9" xsd:string property_value: alternative:term "HNPCC4" xsd:string property_value: alternative:term "PMSL2" xsd:string property_value: alternative:term "postmeiotic segregation increased (S. cerevisiae) 2" xsd:string property_value: symbol "PMS2" xsd:string [Term] id: Orphanet:117925 name: polymerase (DNA directed), gamma xref: ENSEMBL:ENSG00000140521 xref: GENATLAS:POLG xref: HGNC:9179 xref: OMIM:174763 xref: UNIPROTKB/SWISSPROT:P54098 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:254881 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia with epilepsy relationship: Orphanet:317343 Orphanet:254886 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive progressive external ophthalmoplegia relationship: Orphanet:317343 Orphanet:254892 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant progressive external ophthalmoplegia relationship: Orphanet:317343 Orphanet:298 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial neurogastrointestinal encephalomyopathy relationship: Orphanet:317343 Orphanet:70595 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sensory ataxic neuropathy - dysarthria - ophthalmoparesis relationship: Orphanet:317343 Orphanet:726 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alpers syndrome relationship: Orphanet:317343 Orphanet:94125 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Recessive mitochondrial ataxia syndrome property_value: alternative:term "POLG1" xsd:string property_value: alternative:term "POLGA" xsd:string property_value: symbol "POLG" xsd:string [Term] id: Orphanet:117927 name: polymerase (DNA directed), gamma 2, accessory subunit xref: ENSEMBL:ENSG00000256525 xref: GENATLAS:POLG2 xref: HGNC:9180 xref: OMIM:604983 xref: UNIPROTKB/SWISSPROT:Q9UHN1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:254892 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant progressive external ophthalmoplegia property_value: alternative:term "HP55" xsd:string property_value: alternative:term "MTPOLB" xsd:string property_value: symbol "POLG2" xsd:string [Term] id: Orphanet:117931 name: polymerase (DNA directed), eta xref: ENSEMBL:ENSG00000170734 xref: GENATLAS:POLH xref: HGNC:9181 xref: OMIM:603968 xref: REACTOME:Q9Y253 xref: UNIPROTKB/SWISSPROT:Q9Y253 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90342 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Xeroderma pigmentosum variant property_value: alternative:term "RAD30A" xsd:string property_value: alternative:term "XP-V" xsd:string property_value: symbol "POLH" xsd:string [Term] id: Orphanet:117935 name: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) xref: ENSEMBL:ENSG00000085998 xref: GENATLAS:POMGNT1 xref: HGNC:19139 xref: OMIM:606822 xref: UNIPROTKB/SWISSPROT:Q8WZA1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:206564 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive limb-girdle muscular dystrophy type 2O relationship: Orphanet:317343 Orphanet:370959 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital muscular dystrophy with cerebellar involvement relationship: Orphanet:317343 Orphanet:588 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Muscle-eye-brain disease relationship: Orphanet:317343 Orphanet:899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Walker-Warburg syndrome property_value: alternative:term "FLJ20277" xsd:string property_value: alternative:term "LGMD2O" xsd:string property_value: alternative:term "MEB" xsd:string property_value: alternative:term "MGAT1.2" xsd:string property_value: alternative:term "muscle-eye-brain disease" xsd:string property_value: alternative:term "Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase" xsd:string property_value: alternative:term "protein O-mannose beta-1,2-N-acetylglucosaminyltransferase" xsd:string property_value: symbol "POMGNT1" xsd:string [Term] id: Orphanet:117939 name: protein-O-mannosyltransferase 1 xref: ENSEMBL:ENSG00000130714 xref: GENATLAS:POMT1 xref: HGNC:9202 xref: OMIM:607423 xref: UNIPROTKB/SWISSPROT:Q9Y6A1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:370959 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital muscular dystrophy with cerebellar involvement relationship: Orphanet:317343 Orphanet:370968 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital muscular dystrophy with intellectual disability relationship: Orphanet:317343 Orphanet:370980 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital muscular dystrophy without intellectual disability relationship: Orphanet:317343 Orphanet:588 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Muscle-eye-brain disease relationship: Orphanet:317343 Orphanet:86812 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive limb-girdle muscular dystrophy type 2K relationship: Orphanet:317343 Orphanet:899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Walker-Warburg syndrome property_value: alternative:term "dolichyl-phosphate-mannose-protein mannosyltransferase" xsd:string property_value: alternative:term "LGMD2K" xsd:string property_value: symbol "POMT1" xsd:string [Term] id: Orphanet:117942 name: protein-O-mannosyltransferase 2 xref: ENSEMBL:ENSG00000009830 xref: GENATLAS:POMT2 xref: HGNC:19743 xref: OMIM:607439 xref: UNIPROTKB/SWISSPROT:Q9UKY4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:206559 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive limb-girdle muscular dystrophy type 2N relationship: Orphanet:317343 Orphanet:370959 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital muscular dystrophy with cerebellar involvement relationship: Orphanet:317343 Orphanet:370968 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital muscular dystrophy with intellectual disability relationship: Orphanet:317343 Orphanet:588 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Muscle-eye-brain disease relationship: Orphanet:317343 Orphanet:899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Walker-Warburg syndrome property_value: alternative:term "LGMD2N" xsd:string property_value: symbol "POMT2" xsd:string [Term] id: Orphanet:117944 name: P450 (cytochrome) oxidoreductase xref: ENSEMBL:ENSG00000127948 xref: GENATLAS:POR xref: HGNC:9208 xref: OMIM:124015 xref: UNIPROTKB/SWISSPROT:P16435 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:95699 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency property_value: alternative:term "CYPOR" xsd:string property_value: alternative:term "FLJ26468" xsd:string property_value: symbol "POR" xsd:string [Term] id: Orphanet:117948 name: POU class 1 homeobox 1 xref: ENSEMBL:ENSG00000064835 xref: GENATLAS:POU1F1 xref: HGNC:9210 xref: OMIM:173110 xref: UNIPROTKB/SWISSPROT:P28069 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:226307 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypothyroidism due to deficient transcription factors involved in pituitary development or function relationship: Orphanet:317343 Orphanet:95494 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined pituitary hormone deficiencies, genetic forms property_value: alternative:term "GHF-1" xsd:string property_value: alternative:term "growth hormone factor 1" xsd:string property_value: alternative:term "PIT1" xsd:string property_value: alternative:term "POU domain class 1, transcription factor 1" xsd:string property_value: alternative:term "POU1F1a" xsd:string property_value: symbol "POU1F1" xsd:string [Term] id: Orphanet:117952 name: POU class 3 homeobox 4 xref: ENSEMBL:ENSG00000196767 xref: GENATLAS:POU3F4 xref: HGNC:9217 xref: OMIM:300039 xref: UNIPROTKB/SWISSPROT:P49335 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:383 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked mixed deafness with perilymphatic gusher relationship: Orphanet:317349 Orphanet:163988 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Developmental delay - deafness, Hildebrand type property_value: alternative:term "brain-4" xsd:string property_value: alternative:term "BRN4" xsd:string property_value: alternative:term "DFN3" xsd:string property_value: alternative:term "DFNX2" xsd:string property_value: alternative:term "OTF9" xsd:string property_value: alternative:term "POU domain class 3, transcription factor 4" xsd:string property_value: symbol "POU3F4" xsd:string [Term] id: Orphanet:117957 name: POU class 4 homeobox 3 xref: ENSEMBL:ENSG00000091010 xref: GENATLAS:POU4F3 xref: HGNC:9220 xref: OMIM:602460 xref: UNIPROTKB/SWISSPROT:Q15319 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA property_value: alternative:term "BRN3C" xsd:string property_value: alternative:term "DFNA15" xsd:string property_value: alternative:term "POU domain class 4, transcription factor 3" xsd:string property_value: symbol "POU4F3" xsd:string [Term] id: Orphanet:117961 name: POU class 6 homeobox 2 xref: ENSEMBL:ENSG00000106536 xref: GENATLAS:POU6F2 xref: HGNC:21694 xref: OMIM:609062 xref: UNIPROTKB/SWISSPROT:P78424 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:654 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nephroblastoma property_value: alternative:term "POU domain, class 6, transcription factor 2" xsd:string property_value: alternative:term "Retina-derived POU-domain factor-1" xsd:string property_value: alternative:term "RPF-1" xsd:string property_value: symbol "POU6F2" xsd:string [Term] id: Orphanet:117964 name: peroxisome proliferator-activated receptor gamma xref: ENSEMBL:ENSG00000132170 xref: GENATLAS:PPARG xref: HGNC:9236 xref: IUPHAR:595 xref: OMIM:601487 xref: REACTOME:P37231 xref: UNIPROTKB/SWISSPROT:P37231 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79083 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial partial lipodystrophy associated with PPARG mutations relationship: Orphanet:317347 Orphanet:251576 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gliosarcoma relationship: Orphanet:317347 Orphanet:251579 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Giant cell glioblastoma property_value: alternative:term "NR1C3" xsd:string property_value: alternative:term "peroxisome proliferative activated receptor, gamma" xsd:string property_value: alternative:term "PPARG1" xsd:string property_value: alternative:term "PPARG2" xsd:string property_value: alternative:term "PPARgamma" xsd:string property_value: symbol "PPARG" xsd:string [Term] id: Orphanet:117969 name: protoporphyrinogen oxidase xref: ENSEMBL:ENSG00000143224 xref: GENATLAS:PPOX xref: HGNC:9280 xref: OMIM:600923 xref: REACTOME:P50336 xref: UNIPROTKB/SWISSPROT:P50336 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79473 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Porphyria variegata property_value: alternative:term "PPO" xsd:string property_value: alternative:term "variegate porphyria" xsd:string property_value: alternative:term "VP" xsd:string property_value: symbol "PPOX" xsd:string [Term] id: Orphanet:117973 name: protein phosphatase 2, regulatory subunit B, beta xref: ENSEMBL:ENSG00000156475 xref: GENATLAS:PPP2R2B xref: HGNC:9305 xref: OMIM:604325 xref: UNIPROTKB/SWISSPROT:Q00005 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98762 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 12 property_value: alternative:term "PP2A subunit B isoform beta" xsd:string property_value: alternative:term "PR52B" xsd:string property_value: alternative:term "PR55-BETA" xsd:string property_value: alternative:term "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform" xsd:string property_value: alternative:term "Protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform" xsd:string property_value: alternative:term "SCA12" xsd:string property_value: alternative:term "spinocerebellar ataxia 12" xsd:string property_value: symbol "PPP2R2B" xsd:string [Term] id: Orphanet:117978 name: palmitoyl-protein thioesterase 1 xref: ENSEMBL:ENSG00000131238 xref: GENATLAS:PPT1 xref: HGNC:9325 xref: OMIM:600722 xref: UNIPROTKB/SWISSPROT:P50897 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:228329 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CLN1 disease property_value: alternative:term "ceroid-lipofuscinosis, neuronal 1, infantile" xsd:string property_value: alternative:term "CLN1" xsd:string property_value: alternative:term "INCL" xsd:string property_value: alternative:term "Palmitoyl-protein thioesterase 1 (ceroid-lipofuscinosis, neuronal 1, infantile)" xsd:string property_value: alternative:term "PPT" xsd:string property_value: symbol "PPT1" xsd:string [Term] id: Orphanet:117983 name: polyglutamine binding protein 1 xref: ENSEMBL:ENSG00000102103 xref: GENATLAS:PQBP1 xref: HGNC:9330 xref: OMIM:300463 xref: UNIPROTKB/SWISSPROT:O60828 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93945 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked intellectual deficit, Porteous type relationship: Orphanet:317343 Orphanet:93946 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hamel cerebro-palato-cardiac syndrome relationship: Orphanet:317343 Orphanet:93947 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked intellectual deficit, Golabi-Ito-Hall type relationship: Orphanet:317343 Orphanet:93950 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked intellectual deficit, Sutherland-Haan type property_value: alternative:term "mental retardation, X-linked 55" xsd:string property_value: alternative:term "MRX55" xsd:string property_value: alternative:term "MRXS8" xsd:string property_value: alternative:term "RENS1" xsd:string property_value: alternative:term "SHS" xsd:string property_value: alternative:term "Sutherland-Haan X-linked mental retardation syndrome" xsd:string property_value: symbol "PQBP1" xsd:string [Term] id: Orphanet:117989 name: papillary renal cell carcinoma (translocation-associated) xref: ENSEMBL:ENSG00000143294 xref: GENATLAS:PRCC xref: HGNC:9343 xref: OMIM:179755 xref: UNIPROTKB/SWISSPROT:Q92733 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:319308 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Translocation renal cell carcinoma property_value: alternative:term "RCCP1" xsd:string property_value: symbol "PRCC" xsd:string [Term] id: Orphanet:117992 name: progressive rod-cone degeneration xref: ENSEMBL:ENSG00000214140 xref: GENATLAS:PRCD xref: HGNC:32528 xref: OMIM:610598 xref: UNIPROTKB/SWISSPROT:Q00LT1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "RP36" xsd:string property_value: symbol "PRCD" xsd:string [Term] id: Orphanet:117995 name: perforin 1 (pore forming protein) xref: ENSEMBL:ENSG00000180644 xref: GENATLAS:PRF1 xref: HGNC:9360 xref: OMIM:170280 xref: UNIPROTKB/SWISSPROT:P14222 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:540 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hemophagocytic lymphohistiocytosis relationship: Orphanet:317345 Orphanet:88 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic aplastic anemia property_value: alternative:term "HPLH2" xsd:string property_value: alternative:term "P1" xsd:string property_value: alternative:term "Perforin" xsd:string property_value: alternative:term "perforin 1 (preforming protein)" xsd:string property_value: alternative:term "PFP" xsd:string property_value: symbol "PRF1" xsd:string [Term] id: Orphanet:118 name: Beta-mannosidosis xref: ICD10:E77.1 xref: MESH:D044905 xref: OMIM:248510 xref: SNOMED CT:238047006 xref: UMLS:C0342849 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139009 ! Developmental anomaly of metabolic origin relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:217581 ! Lysosomal disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:79215 ! Oligosaccharidosis relationship: part_of Orphanet:93448 ! Lysosomal storage disease with skeletal involvement property_value: alternative:term "Beta-mannosidase deficiency" xsd:string [Term] id: Orphanet:1180 name: Ataxia - hypogonadism - choroidal dystrophy xref: ICD10:G11.8 xref: OMIM:215470 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:181387 ! Syndrome with hypogonadotropic hypogonadism relationship: part_of Orphanet:183518 ! Rare hereditary ataxia property_value: alternative:term "Boucher-Neuhäuser syndrome" xsd:string [Term] id: Orphanet:118010 name: protein kinase, cAMP-dependent, regulatory, type I, alpha xref: ENSEMBL:ENSG00000108946 xref: GENATLAS:PRKAR1A xref: HGNC:9388 xref: IUPHAR:1472 xref: OMIM:188830 xref: REACTOME:P10644 xref: UNIPROTKB/SWISSPROT:P10644 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1359 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Carney complex relationship: Orphanet:317343 Orphanet:189439 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary pigmented nodular adrenocortical disease relationship: Orphanet:317343 Orphanet:280651 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acrodysostosis with multiple hormone resistance relationship: Orphanet:317343 Orphanet:615 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial atrial myxoma relationship: Orphanet:317343 Orphanet:950 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acrodysostosis property_value: alternative:term "PRKAR1" xsd:string property_value: alternative:term "Protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)" xsd:string property_value: alternative:term "tissue specific extinguisher 1" xsd:string property_value: alternative:term "TSE1" xsd:string property_value: symbol "PRKAR1A" xsd:string [Term] id: Orphanet:118014 name: protein kinase C, gamma xref: ENSEMBL:ENSG00000126583 xref: GENATLAS:PRKCG xref: HGNC:9402 xref: IUPHAR:1484 xref: OMIM:176980 xref: REACTOME:P05129 xref: UNIPROTKB/SWISSPROT:P05129 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98763 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 14 property_value: alternative:term "MGC57564" xsd:string property_value: alternative:term "PKC-gamma" xsd:string property_value: alternative:term "PKCC" xsd:string property_value: alternative:term "PKCG" xsd:string property_value: alternative:term "SCA14" xsd:string property_value: symbol "PRKCG" xsd:string [Term] id: Orphanet:118020 name: protein kinase C substrate 80K-H xref: ENSEMBL:ENSG00000130175 xref: GENATLAS:PRKCSH xref: HGNC:9411 xref: OMIM:177060 xref: REACTOME:P14314 xref: UNIPROTKB/SWISSPROT:P14314 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2924 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated polycystic liver disease property_value: alternative:term "G19P1" xsd:string property_value: symbol "PRKCSH" xsd:string [Term] id: Orphanet:118023 name: prion protein xref: ENSEMBL:ENSG00000171867 xref: GENATLAS:PRNP xref: HGNC:9449 xref: OMIM:176640 xref: REACTOME:P04156 xref: UNIPROTKB/SWISSPROT:P04156 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:157941 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Huntington disease-like 1 relationship: Orphanet:317343 Orphanet:282166 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Inherited Creutzfeldt-Jakob disease relationship: Orphanet:317343 Orphanet:356 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gerstmann-Straussler-Scheinker syndrome relationship: Orphanet:317343 Orphanet:466 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fatal familial insomnia relationship: Orphanet:317345 Orphanet:280397 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial Alzheimer-like prion disease property_value: alternative:term "AltPrP" xsd:string property_value: alternative:term "CD230" xsd:string property_value: alternative:term "CJD" xsd:string property_value: alternative:term "Creutzfeldt-Jakob disease" xsd:string property_value: alternative:term "fatal familial insomnia" xsd:string property_value: alternative:term "Gerstmann-Strausler-Scheinker syndrome" xsd:string property_value: alternative:term "GSS" xsd:string property_value: alternative:term "p27-30" xsd:string property_value: alternative:term "prion protein (p27-30)" xsd:string property_value: alternative:term "Prion protein (p27-30) (Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)" xsd:string property_value: alternative:term "PRIP" xsd:string property_value: alternative:term "PRP" xsd:string property_value: symbol "PRNP" xsd:string [Term] id: Orphanet:118030 name: protein C (inactivator of coagulation factors Va and VIIIa) xref: ENSEMBL:ENSG00000115718 xref: GENATLAS:PROC xref: HGNC:9451 xref: IUPHAR:2396 xref: OMIM:612283 xref: REACTOME:P04070 xref: UNIPROTKB/SWISSPROT:P04070 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:745 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary thrombophilia due to congenital protein C deficiency property_value: symbol "PROC" xsd:string [Term] id: Orphanet:118032 name: proline dehydrogenase (oxidase) 1 xref: ENSEMBL:ENSG00000100033 xref: GENATLAS:PRODH xref: HGNC:9453 xref: OMIM:606810 xref: REACTOME:O43272 xref: UNIPROTKB/SWISSPROT:O43272 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:419 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperprolinemia type 1 property_value: alternative:term "HSPOX2" xsd:string property_value: alternative:term "PIG6" xsd:string property_value: alternative:term "PRODH1" xsd:string property_value: alternative:term "PRODH2" xsd:string property_value: alternative:term "proline dehydrogenase (proline oxidase )" xsd:string property_value: alternative:term "TP53I6" xsd:string property_value: symbol "PRODH" xsd:string [Term] id: Orphanet:118039 name: prokineticin 2 xref: ENSEMBL:ENSG00000163421 xref: GENATLAS:PROK2 xref: HGNC:18455 xref: OMIM:607002 xref: REACTOME:Q9HC23 xref: UNIPROTKB/SWISSPROT:Q9HC23 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:432 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Normosmic congenital hypogonadotropic hypogonadism relationship: Orphanet:317343 Orphanet:478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kallmann syndrome property_value: alternative:term "BV8" xsd:string property_value: alternative:term "KAL4" xsd:string property_value: alternative:term "MIT1" xsd:string property_value: alternative:term "PK2" xsd:string property_value: alternative:term "protein Bv8 homolog" xsd:string property_value: symbol "PROK2" xsd:string [Term] id: Orphanet:118044 name: prokineticin receptor 2 xref: ENSEMBL:ENSG00000101292 xref: GENATLAS:PROKR2 xref: HGNC:15836 xref: IUPHAR:336 xref: OMIM:607123 xref: REACTOME:Q8NFJ6 xref: UNIPROTKB/SWISSPROT:Q8NFJ6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3157 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Septo-optic dysplasia relationship: Orphanet:317343 Orphanet:432 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Normosmic congenital hypogonadotropic hypogonadism relationship: Orphanet:317343 Orphanet:478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kallmann syndrome property_value: alternative:term "dJ680N4.3" xsd:string property_value: alternative:term "G protein-coupled receptor 73-like 1" xsd:string property_value: alternative:term "GPR73b" xsd:string property_value: alternative:term "GPR73L1" xsd:string property_value: alternative:term "GPRg2" xsd:string property_value: alternative:term "KAL3" xsd:string property_value: alternative:term "Kallmann syndrome 3 (autosomal dominant)" xsd:string property_value: alternative:term "PKR2" xsd:string property_value: symbol "PROKR2" xsd:string [Term] id: Orphanet:118051 name: PROP paired-like homeobox 1 xref: ENSEMBL:ENSG00000175325 xref: GENATLAS:PROP1 xref: HGNC:9455 xref: OMIM:601538 xref: UNIPROTKB/SWISSPROT:O75360 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:226307 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypothyroidism due to deficient transcription factors involved in pituitary development or function relationship: Orphanet:317343 Orphanet:90695 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Panhypopituitarism relationship: Orphanet:317343 Orphanet:95494 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined pituitary hormone deficiencies, genetic forms property_value: alternative:term "prophet of Pit1, paired-like homeodomain transcription factor" xsd:string property_value: symbol "PROP1" xsd:string [Term] id: Orphanet:118056 name: pre-mRNA processing factor 3 xref: ENSEMBL:ENSG00000117360 xref: GENATLAS:PRPF3 xref: HGNC:17348 xref: OMIM:607301 xref: UNIPROTKB/SWISSPROT:O43395 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "HPRP3" xsd:string property_value: alternative:term "Prp3" xsd:string property_value: alternative:term "PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "PRP3 pre-mRNA processing factor 3 homolog (yeast)" xsd:string property_value: alternative:term "Prp3p" xsd:string property_value: alternative:term "retinitis pigmentosa 18 (autosomal dominant)" xsd:string property_value: alternative:term "RP18" xsd:string property_value: alternative:term "SNRNP90" xsd:string property_value: symbol "PRPF3" xsd:string [Term] id: Orphanet:118061 name: pre-mRNA processing factor 31 xref: ENSEMBL:ENSG00000105618 xref: GENATLAS:PRPF31 xref: HGNC:15446 xref: OMIM:606419 xref: UNIPROTKB/SWISSPROT:Q8WWY3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "hPrp31" xsd:string property_value: alternative:term "NY-BR-99" xsd:string property_value: alternative:term "PRP31" xsd:string property_value: alternative:term "PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "PRP31 pre-mRNA processing factor 31 homolog (yeast)" xsd:string property_value: alternative:term "RP11" xsd:string property_value: alternative:term "SNRNP61" xsd:string property_value: symbol "PRPF31" xsd:string [Term] id: Orphanet:118066 name: pre-mRNA processing factor 8 xref: ENSEMBL:ENSG00000174231 xref: GENATLAS:PRPF8 xref: HGNC:17340 xref: OMIM:607300 xref: REACTOME:Q6P2Q9 xref: UNIPROTKB/SWISSPROT:Q6P2Q9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "hPrp8" xsd:string property_value: alternative:term "Prp8" xsd:string property_value: alternative:term "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "PRP8 pre-mRNA processing factor 8 homolog (yeast)" xsd:string property_value: alternative:term "PRPC8" xsd:string property_value: alternative:term "RP13" xsd:string property_value: alternative:term "SNRNP220" xsd:string property_value: symbol "PRPF8" xsd:string [Term] id: Orphanet:118070 name: peripherin 2 (retinal degeneration, slow) xref: ENSEMBL:ENSG00000112619 xref: GENATLAS:PRPH2 xref: HGNC:9942 xref: OMIM:179605 xref: UNIPROTKB/SWISSPROT:P23942 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone rod dystrophy relationship: Orphanet:317343 Orphanet:227796 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fundus albipunctatus relationship: Orphanet:317343 Orphanet:52427 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis punctata albescens relationship: Orphanet:317343 Orphanet:75377 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Central areolar choroidal dystrophy relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa relationship: Orphanet:317343 Orphanet:99000 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adult-onset foveomacular vitelliform dystrophy relationship: Orphanet:317343 Orphanet:99001 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Butterfly-shaped pigment dystrophy property_value: alternative:term "CACD2" xsd:string property_value: alternative:term "rd2" xsd:string property_value: alternative:term "RDS" xsd:string property_value: alternative:term "retinal degeneration, slow" xsd:string property_value: alternative:term "retinal degeneration, slow (retinitis pigmentosa 7)" xsd:string property_value: alternative:term "retinal peripherin" xsd:string property_value: alternative:term "RP7" xsd:string property_value: alternative:term "TSPAN22" xsd:string property_value: symbol "PRPH2" xsd:string [Term] id: Orphanet:118076 name: phosphoribosyl pyrophosphate synthetase 1 xref: ENSEMBL:ENSG00000147224 xref: GENATLAS:PRPS1 xref: HGNC:9462 xref: OMIM:311850 xref: REACTOME:P60891 xref: UNIPROTKB/SWISSPROT:P60891 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1187 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lethal ataxia with deafness and optic atrophy relationship: Orphanet:317343 Orphanet:3222 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Phosphoribosylpyrophosphate synthetase superactivity relationship: Orphanet:317343 Orphanet:90625 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked nonsyndromic sensorineural deafness type DFN relationship: Orphanet:317343 Orphanet:99014 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked Charcot-Marie-Tooth disease type 5 property_value: alternative:term "CMTX5" xsd:string property_value: alternative:term "deafness, X-linked 2, perceptive, congenital" xsd:string property_value: alternative:term "DFN2" xsd:string property_value: alternative:term "DFNX1" xsd:string property_value: alternative:term "PRS I" xsd:string property_value: alternative:term "ribose-phosphate diphosphokinase 1" xsd:string property_value: symbol "PRPS1" xsd:string [Term] id: Orphanet:118080 name: protease, serine, 1 (trypsin 1) xref: ENSEMBL:ENSG00000204983 xref: GENATLAS:PRSS1 xref: HGNC:9475 xref: IUPHAR:2397 xref: OMIM:276000 xref: REACTOME:P07477 xref: UNIPROTKB/SWISSPROT:P07477 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:676 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary chronic pancreatitis property_value: alternative:term "TRY1" xsd:string property_value: symbol "PRSS1" xsd:string [Term] id: Orphanet:118083 name: protease, serine, 12 (neurotrypsin, motopsin) xref: ENSEMBL:ENSG00000164099 xref: GENATLAS:PRSS12 xref: HGNC:9477 xref: OMIM:606709 xref: UNIPROTKB/SWISSPROT:P56730 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88616 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive nonsyndromic intellectual deficit property_value: alternative:term "BSSP-3" xsd:string property_value: alternative:term "MRT1" xsd:string property_value: symbol "PRSS12" xsd:string [Term] id: Orphanet:118087 name: proteinase 3 xref: ENSEMBL:ENSG00000196415 xref: GENATLAS:PRTN3 xref: HGNC:9495 xref: IUPHAR:2401 xref: OMIM:177020 xref: UNIPROTKB/SWISSPROT:P24158 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:900 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Granulomatosis with polyangiitis property_value: alternative:term "ACPA" xsd:string property_value: alternative:term "AGP7" xsd:string property_value: alternative:term "C-ANCA" xsd:string property_value: alternative:term "MBT" xsd:string property_value: alternative:term "myeloblastin" xsd:string property_value: alternative:term "P29" xsd:string property_value: alternative:term "PR-3" xsd:string property_value: alternative:term "Proteinase 3 (serine proteinase, neutrophil, Wegener granulomatosis autoantigen)" xsd:string property_value: alternative:term "serine proteinase, neutrophil" xsd:string property_value: alternative:term "Wegener granulomatosis autoantigen" xsd:string property_value: symbol "PRTN3" xsd:string [Term] id: Orphanet:118092 name: periaxin xref: ENSEMBL:ENSG00000105227 xref: GENATLAS:PRX xref: HGNC:13797 xref: OMIM:605725 xref: UNIPROTKB/SWISSPROT:Q9BXM0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:64748 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dejerine-Sottas syndrome relationship: Orphanet:317343 Orphanet:99952 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Charcot-Marie-Tooth disease type 4F property_value: alternative:term "KIAA1620" xsd:string property_value: symbol "PRX" xsd:string [Term] id: Orphanet:118095 name: prosaposin xref: ENSEMBL:ENSG00000197746 xref: GENATLAS:PSAP xref: HGNC:9498 xref: OMIM:176801 xref: REACTOME:P07602 xref: UNIPROTKB/SWISSPROT:P07602 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:139406 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Encephalopathy due to prosaposin deficiency relationship: Orphanet:317343 Orphanet:206436 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile Krabbe disease relationship: Orphanet:317343 Orphanet:309252 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atypical Gaucher disease due to saposin C deficiency relationship: Orphanet:317343 Orphanet:309256 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Metachromatic leukodystrophy, late infantile form relationship: Orphanet:317343 Orphanet:309263 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Metachromatic leukodystrophy, juvenile form relationship: Orphanet:317343 Orphanet:309271 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Metachromatic leukodystrophy, adult form property_value: alternative:term "GLBA" xsd:string property_value: alternative:term "Prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy)" xsd:string property_value: alternative:term "SAP1" xsd:string property_value: alternative:term "sphingolipid activator protein-1" xsd:string property_value: alternative:term "variant Gaucher disease and variant metachromatic leukodystrophy" xsd:string property_value: symbol "PSAP" xsd:string [Term] id: Orphanet:118099 name: presenilin 1 xref: ENSEMBL:ENSG00000080815 xref: GENATLAS:PSEN1 xref: HGNC:9508 xref: IUPHAR:2402 xref: OMIM:104311 xref: REACTOME:P49768 xref: UNIPROTKB/SWISSPROT:P49768 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1020 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early-onset autosomal dominant Alzheimer disease relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317345 Orphanet:100069 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Semantic dementia relationship: Orphanet:317345 Orphanet:100070 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Progressive non-fluent aphasia relationship: Orphanet:317345 Orphanet:275864 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Behavioral variant of frontotemporal dementia property_value: alternative:term "AD3" xsd:string property_value: alternative:term "Alzheimer disease 3" xsd:string property_value: alternative:term "FAD" xsd:string property_value: alternative:term "PS1" xsd:string property_value: alternative:term "S182" xsd:string property_value: symbol "PSEN1" xsd:string [Term] id: Orphanet:118105 name: presenilin 2 (Alzheimer disease 4) xref: ENSEMBL:ENSG00000143801 xref: GENATLAS:PSEN2 xref: HGNC:9509 xref: IUPHAR:2403 xref: OMIM:600759 xref: REACTOME:P49810 xref: UNIPROTKB/SWISSPROT:P49810 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1020 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early-onset autosomal dominant Alzheimer disease relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy property_value: alternative:term "AD3L" xsd:string property_value: alternative:term "AD4" xsd:string property_value: alternative:term "PS2" xsd:string property_value: alternative:term "STM2" xsd:string property_value: symbol "PSEN2" xsd:string [Term] id: Orphanet:118111 name: phosphoserine phosphatase xref: ENSEMBL:ENSG00000146733 xref: GENATLAS:PSPH xref: HGNC:9577 xref: OMIM:172480 xref: REACTOME:P78330 xref: UNIPROTKB/SWISSPROT:P78330 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79350 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 3-phosphoserine phosphatase deficiency property_value: alternative:term "PSP" xsd:string property_value: symbol "PSPH" xsd:string [Term] id: Orphanet:118114 name: proline-serine-threonine phosphatase interacting protein 1 xref: ENSEMBL:ENSG00000140368 xref: GENATLAS:PSTPIP1 xref: HGNC:9580 xref: OMIM:606347 xref: REACTOME:O43586 xref: UNIPROTKB/SWISSPROT:O43586 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:69126 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pyogenic arthritis - pyoderma gangrenosum - acne property_value: alternative:term "CD2 antigen-binding protein 1" xsd:string property_value: alternative:term "CD2 cytoplasmic tail-binding protein" xsd:string property_value: alternative:term "CD2BP1" xsd:string property_value: alternative:term "CD2BP1L" xsd:string property_value: alternative:term "CD2BP1S" xsd:string property_value: alternative:term "H-PIP" xsd:string property_value: alternative:term "PAPAS" xsd:string property_value: alternative:term "PEST phosphatase-interacting protein 1" xsd:string property_value: alternative:term "PSTPIP" xsd:string property_value: symbol "PSTPIP1" xsd:string [Term] id: Orphanet:118121 name: patched 1 xref: ENSEMBL:ENSG00000185920 xref: GENATLAS:PTCH1 xref: HGNC:9585 xref: OMIM:601309 xref: REACTOME:Q13635 xref: UNIPROTKB/SWISSPROT:Q13635 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220386 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Semilobar holoprosencephaly relationship: Orphanet:317343 Orphanet:280195 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Septopreoptic holoprosencephaly relationship: Orphanet:317343 Orphanet:280200 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microform holoprosencephaly relationship: Orphanet:317343 Orphanet:377 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gorlin syndrome relationship: Orphanet:317343 Orphanet:93924 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93925 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93926 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Midline interhemispheric variant of holoprosencephaly relationship: Orphanet:317349 Orphanet:77301 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Monosomy 9q22.3 property_value: alternative:term "BCNS" xsd:string property_value: alternative:term "NBCCS" xsd:string property_value: alternative:term "patched (Drosophila) homolog" xsd:string property_value: alternative:term "patched homolog (Drosophila)" xsd:string property_value: alternative:term "Patched homolog 1 (Drosophila)" xsd:string property_value: alternative:term "PTCH" xsd:string property_value: symbol "PTCH1" xsd:string [Term] id: Orphanet:118126 name: patched 2 xref: ENSEMBL:ENSG00000117425 xref: GENATLAS:PTCH2 xref: HGNC:9586 xref: OMIM:603673 xref: REACTOME:Q9Y6C5 xref: UNIPROTKB/SWISSPROT:Q9Y6C5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:141276 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Commissural facial cleft property_value: alternative:term "patched (Drosophila) homolog 2" xsd:string property_value: alternative:term "Patched homolog 2 (Drosophila)" xsd:string property_value: symbol "PTCH2" xsd:string [Term] id: Orphanet:118128 name: phosphatase and tensin homolog xref: ENSEMBL:ENSG00000171862 xref: GENATLAS:PTEN xref: HGNC:9588 xref: OMIM:601728 xref: REACTOME:P60484 xref: UNIPROTKB/SWISSPROT:P60484 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:109 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bannayan-Riley-Ruvalcaba syndrome relationship: Orphanet:317343 Orphanet:137608 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus relationship: Orphanet:317343 Orphanet:145 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary breast and ovarian cancer syndrome relationship: Orphanet:317343 Orphanet:201 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cowden syndrome relationship: Orphanet:317343 Orphanet:210548 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Macrocephaly-autism syndrome relationship: Orphanet:317343 Orphanet:2969 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Proteus-like syndrome relationship: Orphanet:317343 Orphanet:65285 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lhermitte-Duclos disease relationship: Orphanet:317343 Orphanet:744 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Proteus syndrome relationship: Orphanet:317344 Orphanet:67037 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Squamous cell carcinoma of head and neck relationship: Orphanet:317349 Orphanet:79076 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juvenile polyposis of infancy property_value: alternative:term "BZS" xsd:string property_value: alternative:term "MHAM" xsd:string property_value: alternative:term "MMAC1" xsd:string property_value: alternative:term "mutated in multiple advanced cancers 1" xsd:string property_value: alternative:term "PTEN1" xsd:string property_value: alternative:term "TEP1" xsd:string property_value: symbol "PTEN" xsd:string [Term] id: Orphanet:118135 name: pancreas specific transcription factor, 1a xref: ENSEMBL:ENSG00000168267 xref: GENATLAS:PTF1A xref: HGNC:23734 xref: OMIM:607194 xref: REACTOME:Q7RTS3 xref: UNIPROTKB/SWISSPROT:Q7RTS3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:65288 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis property_value: alternative:term "bHLHa29" xsd:string property_value: alternative:term "PTF1-p48" xsd:string property_value: symbol "PTF1A" xsd:string [Term] id: Orphanet:118138 name: parathyroid hormone xref: ENSEMBL:ENSG00000152266 xref: GENATLAS:PTH xref: HGNC:9606 xref: OMIM:168450 xref: REACTOME:P01270 xref: UNIPROTKB/SWISSPROT:P01270 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:189466 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated hypoparathyroidism due to impaired PTH secretion property_value: alternative:term "parathormone" xsd:string property_value: alternative:term "parathyrin" xsd:string property_value: alternative:term "parathyroid hormone 1" xsd:string property_value: alternative:term "prepro-PTH" xsd:string property_value: alternative:term "preproparathyroid hormone" xsd:string property_value: alternative:term "PTH1" xsd:string property_value: symbol "PTH" xsd:string [Term] id: Orphanet:118140 name: parathyroid hormone 1 receptor xref: ENSEMBL:ENSG00000160801 xref: GENATLAS:PTH1R xref: HGNC:9608 xref: IUPHAR:331 xref: OMIM:168468 xref: REACTOME:Q03431 xref: UNIPROTKB/SWISSPROT:Q03431 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1077 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dental ankylosis relationship: Orphanet:317343 Orphanet:296 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Enchondromatosis relationship: Orphanet:317343 Orphanet:33067 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Metaphyseal chondrodysplasia, Jansen type relationship: Orphanet:317343 Orphanet:50945 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chondrodysplasia, Blomstrand type relationship: Orphanet:317343 Orphanet:79106 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Eiken syndrome property_value: alternative:term "parathyroid hormone receptor 1" xsd:string property_value: alternative:term "PTHR" xsd:string property_value: alternative:term "PTHR1" xsd:string property_value: symbol "PTH1R" xsd:string [Term] id: Orphanet:118143 name: protein tyrosine phosphatase, non-receptor type 11 xref: ENSEMBL:ENSG00000179295 xref: GENATLAS:PTPN11 xref: HGNC:9644 xref: OMIM:176876 xref: REACTOME:Q06124 xref: UNIPROTKB/SWISSPROT:Q06124 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2499 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Metachondromatosis relationship: Orphanet:317343 Orphanet:500 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! LEOPARD syndrome relationship: Orphanet:317343 Orphanet:648 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Noonan syndrome relationship: Orphanet:317344 Orphanet:86834 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Juvenile myelomonocytic leukemia property_value: alternative:term "BPTP3" xsd:string property_value: alternative:term "Noonan syndrome 1" xsd:string property_value: alternative:term "NS1" xsd:string property_value: alternative:term "PTP2C" xsd:string property_value: alternative:term "SH-PTP2" xsd:string property_value: alternative:term "SHP-2" xsd:string property_value: alternative:term "SHP2" xsd:string property_value: symbol "PTPN11" xsd:string [Term] id: Orphanet:118151 name: protein tyrosine phosphatase, receptor type, C xref: ENSEMBL:ENSG00000081237 xref: GENATLAS:PTPRC xref: HGNC:9666 xref: OMIM:151460 xref: REACTOME:P08575 xref: UNIPROTKB/SWISSPROT:P08575 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169157 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! T-B+ severe combined immunodeficiency due to CD45 deficiency property_value: alternative:term "CD45" xsd:string property_value: alternative:term "GP180" xsd:string property_value: alternative:term "LCA" xsd:string property_value: alternative:term "T200" xsd:string property_value: symbol "PTPRC" xsd:string [Term] id: Orphanet:118157 name: 6-pyruvoyltetrahydropterin synthase xref: ENSEMBL:ENSG00000150787 xref: GENATLAS:PTS xref: HGNC:9689 xref: OMIM:612719 xref: REACTOME:Q03393 xref: UNIPROTKB/SWISSPROT:Q03393 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:13 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 6-pyruvoyl-tetrahydropterin synthase deficiency property_value: alternative:term "PTPS" xsd:string property_value: symbol "PTS" xsd:string [Term] id: Orphanet:118160 name: pseudouridylate synthase 1 xref: ENSEMBL:ENSG00000177192 xref: GENATLAS:PUS1 xref: HGNC:15508 xref: OMIM:608109 xref: UNIPROTKB/SWISSPROT:Q9Y606 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2598 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial myopathy and sideroblastic anemia property_value: symbol "PUS1" xsd:string [Term] id: Orphanet:118162 name: poliovirus receptor-related 1 (herpesvirus entry mediator C) xref: ENSEMBL:ENSG00000110400 xref: GENATLAS:PVRL1 xref: HGNC:9706 xref: OMIM:600644 xref: REACTOME:Q15223 xref: UNIPROTKB/SWISSPROT:Q15223 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3253 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zlotogora-Ogur syndrome property_value: alternative:term "CD111" xsd:string property_value: alternative:term "CLPED1" xsd:string property_value: alternative:term "ED4" xsd:string property_value: alternative:term "HIgR" xsd:string property_value: alternative:term "HVEC" xsd:string property_value: alternative:term "nectin" xsd:string property_value: alternative:term "OFC7" xsd:string property_value: alternative:term "PRR" xsd:string property_value: alternative:term "PRR1" xsd:string property_value: alternative:term "PVRR1" xsd:string property_value: alternative:term "SK-12" xsd:string property_value: symbol "PVRL1" xsd:string [Term] id: Orphanet:118174 name: peroxisomal biogenesis factor 2 xref: ENSEMBL:ENSG00000164751 xref: GENATLAS:PXMP3 xref: HGNC:9717 xref: OMIM:170993 xref: UNIPROTKB/SWISSPROT:P28328 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:44 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal adrenoleukodystrophy relationship: Orphanet:317343 Orphanet:772 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile Refsum disease relationship: Orphanet:317343 Orphanet:912 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zellweger syndrome property_value: alternative:term "PAF-1" xsd:string property_value: alternative:term "peroxin 2" xsd:string property_value: alternative:term "peroxisomal membrane protein 3 (35kD, Zellweger syndrome)" xsd:string property_value: alternative:term "peroxisomal membrane protein 3, 35kDa" xsd:string property_value: alternative:term "PMP35" xsd:string property_value: alternative:term "PXMP3" xsd:string property_value: alternative:term "RNF72" xsd:string property_value: alternative:term "Zellweger syndrome" xsd:string property_value: alternative:term "ZWS3" xsd:string property_value: symbol "PEX2" xsd:string [Term] id: Orphanet:118180 name: phosphorylase, glycogen, liver xref: ENSEMBL:ENSG00000100504 xref: GENATLAS:PYGL xref: HGNC:9725 xref: OMIM:613741 xref: REACTOME:P06737 xref: UNIPROTKB/SWISSPROT:P06737 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:369 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to liver glycogen phosphorylase deficiency property_value: alternative:term "glycogen phosphorylase, liver form" xsd:string property_value: alternative:term "glycogen storage disease type VI" xsd:string property_value: alternative:term "Hers disease" xsd:string property_value: alternative:term "phosphorylase, glycogen; liver" xsd:string property_value: alternative:term "Phosphorylase, glycogen; liver (Hers disease, glycogen storage disease type VI)" xsd:string property_value: symbol "PYGL" xsd:string [Term] id: Orphanet:118182 name: phosphorylase, glycogen, muscle xref: ENSEMBL:ENSG00000068976 xref: GENATLAS:PYGM xref: HGNC:9726 xref: OMIM:608455 xref: REACTOME:P11217 xref: UNIPROTKB/SWISSPROT:P11217 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:368 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to muscle glycogen phosphorylase deficiency property_value: alternative:term "glycogen phosphorylase, muscle form" xsd:string property_value: alternative:term "glycogen storage disease type V" xsd:string property_value: alternative:term "McArdle syndrome" xsd:string property_value: alternative:term "phosphorylase, glycogen; muscle" xsd:string property_value: alternative:term "Phosphorylase, glycogen; muscle (McArdle syndrome, glycogen storage disease type V)" xsd:string property_value: symbol "PYGM" xsd:string [Term] id: Orphanet:118184 name: quinoid dihydropteridine reductase xref: ENSEMBL:ENSG00000151552 xref: GENATLAS:QDPR xref: HGNC:9752 xref: OMIM:612676 xref: REACTOME:P09417 xref: UNIPROTKB/SWISSPROT:P09417 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:226 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dihydropteridine reductase deficiency property_value: alternative:term "6,7-dihydropteridine reductase" xsd:string property_value: alternative:term "DHPR" xsd:string property_value: alternative:term "PKU2" xsd:string property_value: alternative:term "SDR33C1" xsd:string property_value: alternative:term "short chain dehydrogenase/reductase family 33C, member 1" xsd:string property_value: symbol "QDPR" xsd:string [Term] id: Orphanet:118188 name: RAB27A, member RAS oncogene family xref: ENSEMBL:ENSG00000069974 xref: GENATLAS:RAB27A xref: HGNC:9766 xref: OMIM:603868 xref: REACTOME:P51159 xref: UNIPROTKB/SWISSPROT:P51159 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79477 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Griscelli disease type 2 property_value: alternative:term "GS2" xsd:string property_value: alternative:term "HsT18676" xsd:string property_value: alternative:term "RAB27" xsd:string property_value: alternative:term "RAM" xsd:string property_value: symbol "RAB27A" xsd:string [Term] id: Orphanet:118194 name: RAB3 GTPase activating protein subunit 1 (catalytic) xref: ENSEMBL:ENSG00000115839 xref: GENATLAS:RAB3GAP1 xref: HGNC:17063 xref: OMIM:602536 xref: UNIPROTKB/SWISSPROT:Q15042 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1387 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cataract - intellectual deficit - hypogonadism relationship: Orphanet:317343 Orphanet:2510 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Micro syndrome property_value: alternative:term "KIAA0066" xsd:string property_value: alternative:term "RAB3GAP" xsd:string property_value: alternative:term "RAB3GAP130" xsd:string property_value: alternative:term "WARBM1" xsd:string property_value: symbol "RAB3GAP1" xsd:string [Term] id: Orphanet:1182 name: Spastic ataxia with congenital miosis xref: ICD10:G11.4 xref: OMIM:108650 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:316235 ! Autosomal dominant spastic ataxia [Term] id: Orphanet:118200 name: RAB3 GTPase activating protein subunit 2 (non-catalytic) xref: ENSEMBL:ENSG00000118873 xref: GENATLAS:RAB3GAP2 xref: HGNC:17168 xref: OMIM:609275 xref: UNIPROTKB/SWISSPROT:Q9H2M9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1387 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cataract - intellectual deficit - hypogonadism relationship: Orphanet:317343 Orphanet:2510 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Micro syndrome property_value: alternative:term "DKFZP434D245" xsd:string property_value: alternative:term "KIAA0839" xsd:string property_value: alternative:term "RAB3-GAP150" xsd:string property_value: symbol "RAB3GAP2" xsd:string [Term] id: Orphanet:118205 name: RAB7A, member RAS oncogene family xref: ENSEMBL:ENSG00000075785 xref: GENATLAS:RAB7A xref: HGNC:9788 xref: OMIM:602298 xref: REACTOME:P51149 xref: UNIPROTKB/SWISSPROT:P51149 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99936 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Charcot-Marie-Tooth disease type 2B property_value: alternative:term "RAB7" xsd:string property_value: alternative:term "RAB7, member RAS oncogene family" xsd:string property_value: symbol "RAB7A" xsd:string [Term] id: Orphanet:118208 name: RAD51 recombinase xref: ENSEMBL:ENSG00000051180 xref: GENATLAS:RAD51 xref: HGNC:9817 xref: OMIM:179617 xref: REACTOME:Q06609 xref: UNIPROTKB/SWISSPROT:Q06609 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:145 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary breast and ovarian cancer syndrome relationship: Orphanet:317343 Orphanet:238722 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial congenital mirror movements property_value: alternative:term "BRCA1/BRCA2-containing complex, subunit 5" xsd:string property_value: alternative:term "BRCC5" xsd:string property_value: alternative:term "HsRad51" xsd:string property_value: alternative:term "HsT16930" xsd:string property_value: alternative:term "RAD51 (S. cerevisiae) homolog (E coli RecA homolog)" xsd:string property_value: alternative:term "RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)" xsd:string property_value: alternative:term "RAD51 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "RAD51A" xsd:string property_value: alternative:term "RECA" xsd:string property_value: symbol "RAD51" xsd:string [Term] id: Orphanet:118215 name: recombination activating gene 1 xref: ENSEMBL:ENSG00000166349 xref: GENATLAS:RAG1 xref: HGNC:9831 xref: OMIM:179615 xref: UNIPROTKB/SWISSPROT:P15918 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:157949 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined immunodeficiency with skin granulomas relationship: Orphanet:317343 Orphanet:231154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined immunodeficiency T+ B+ due to partial RAG1 deficiency relationship: Orphanet:317343 Orphanet:331206 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe combined immunodeficiency due to complete RAG1/2 deficiency relationship: Orphanet:317343 Orphanet:39041 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Omenn syndrome property_value: alternative:term "MGC43321" xsd:string property_value: alternative:term "recombination activating protein 1" xsd:string property_value: alternative:term "RING finger protein 74" xsd:string property_value: alternative:term "RNF74" xsd:string property_value: alternative:term "V(D)J recombination-activating protein 1" xsd:string property_value: symbol "RAG1" xsd:string [Term] id: Orphanet:118218 name: recombination activating gene 2 xref: ENSEMBL:ENSG00000175097 xref: GENATLAS:RAG2 xref: HGNC:9832 xref: OMIM:179616 xref: UNIPROTKB/SWISSPROT:P55895 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:157949 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined immunodeficiency with skin granulomas relationship: Orphanet:317343 Orphanet:331206 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe combined immunodeficiency due to complete RAG1/2 deficiency relationship: Orphanet:317343 Orphanet:39041 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Omenn syndrome property_value: symbol "RAG2" xsd:string [Term] id: Orphanet:118220 name: retinoic acid induced 1 xref: ENSEMBL:ENSG00000108557 xref: GENATLAS:RAI1 xref: HGNC:9834 xref: OMIM:607642 xref: UNIPROTKB/SWISSPROT:Q7Z5J4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:819 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Smith-Magenis syndrome relationship: Orphanet:317349 Orphanet:1713 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 17p11.2 microduplication syndrome relationship: Orphanet:317349 Orphanet:819 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Smith-Magenis syndrome property_value: alternative:term "DKFZP434A139" xsd:string property_value: alternative:term "KIAA1820" xsd:string property_value: alternative:term "MGC12824" xsd:string property_value: alternative:term "SMCR" xsd:string property_value: alternative:term "Smith-Magenis syndrome chromosome region" xsd:string property_value: alternative:term "SMS" xsd:string property_value: symbol "RAI1" xsd:string [Term] id: Orphanet:118222 name: receptor-associated protein of the synapse xref: ENSEMBL:ENSG00000165917 xref: GENATLAS:RAPSN xref: HGNC:9863 xref: OMIM:601592 xref: UNIPROTKB/SWISSPROT:Q13702 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:33108 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lethal multiple pterygium syndrome relationship: Orphanet:317343 Orphanet:98913 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Postsynaptic congenital myasthenic syndromes relationship: Orphanet:317343 Orphanet:994 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Fetal akinesia deformation sequence property_value: alternative:term "CMS1D" xsd:string property_value: alternative:term "CMS1E" xsd:string property_value: alternative:term "rapsyn" xsd:string property_value: alternative:term "receptor-associated protein of the synapse, 43kD" xsd:string property_value: alternative:term "RNF205" xsd:string property_value: symbol "RAPSN" xsd:string [Term] id: Orphanet:118227 name: retinoic acid receptor, alpha xref: ENSEMBL:ENSG00000131759 xref: GENATLAS:RARA xref: HGNC:9864 xref: IUPHAR:590 xref: OMIM:180240 xref: REACTOME:P10276 xref: UNIPROTKB/SWISSPROT:P10276 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:520 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute promyelocytic leukemia property_value: alternative:term "NR1B1" xsd:string property_value: alternative:term "RAR" xsd:string property_value: symbol "RARA" xsd:string [Term] id: Orphanet:118231 name: RAS p21 protein activator (GTPase activating protein) 1 xref: ENSEMBL:ENSG00000145715 xref: GENATLAS:RASA1 xref: HGNC:9871 xref: OMIM:139150 xref: REACTOME:P20936 xref: UNIPROTKB/SWISSPROT:P20936 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:137667 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Capillary malformation - arteriovenous malformation relationship: Orphanet:317343 Orphanet:90307 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Parkes Weber syndrome property_value: alternative:term "capillary malformation-arteriovenous malformation" xsd:string property_value: alternative:term "CM-AVM" xsd:string property_value: alternative:term "GAP" xsd:string property_value: alternative:term "p120GAP" xsd:string property_value: alternative:term "p120RASGAP" xsd:string property_value: alternative:term "RASA" xsd:string property_value: symbol "RASA1" xsd:string [Term] id: Orphanet:118239 name: retinoblastoma 1 xref: ENSEMBL:ENSG00000139687 xref: GENATLAS:RB1 xref: HGNC:9884 xref: OMIM:614041 xref: REACTOME:P06400 xref: UNIPROTKB/SWISSPROT:P06400 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:357027 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial retinoblastoma relationship: Orphanet:317344 Orphanet:357034 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Unilateral retinoblastoma property_value: alternative:term "OSRC" xsd:string property_value: alternative:term "osteosarcoma" xsd:string property_value: alternative:term "RB" xsd:string property_value: alternative:term "Retinoblastoma 1 (including osteosarcoma)" xsd:string property_value: symbol "RB1" xsd:string [Term] id: Orphanet:118246 name: retinal degeneration 3 xref: ENSEMBL:ENSG00000198570 xref: GENATLAS:RD3 xref: HGNC:19689 xref: OMIM:180040 xref: UNIPROTKB/SWISSPROT:Q7Z3Z2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:65 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber congenital amaurosis property_value: alternative:term "C1orf36" xsd:string property_value: alternative:term "chromosome 1 open reading frame 36" xsd:string property_value: alternative:term "LCA12" xsd:string property_value: symbol "RD3" xsd:string [Term] id: Orphanet:118250 name: retinol dehydrogenase 12 (all-trans/9-cis/11-cis) xref: ENSEMBL:ENSG00000139988 xref: GENATLAS:RDH12 xref: HGNC:19977 xref: OMIM:608830 xref: REACTOME:Q96NR8 xref: UNIPROTKB/SWISSPROT:Q96NR8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:65 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber congenital amaurosis relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "FLJ30273" xsd:string property_value: alternative:term "LCA13" xsd:string property_value: alternative:term "retinol dehydrogenase 12 (all-trans and 9-cis)" xsd:string property_value: alternative:term "RP53" xsd:string property_value: alternative:term "SDR7C2" xsd:string property_value: alternative:term "short chain dehydrogenase/reductase family 7C, member 2" xsd:string property_value: symbol "RDH12" xsd:string [Term] id: Orphanet:118253 name: retinol dehydrogenase 5 (11-cis/9-cis) xref: ENSEMBL:ENSG00000135437 xref: GENATLAS:RDH5 xref: HGNC:9940 xref: OMIM:601617 xref: REACTOME:Q92781 xref: UNIPROTKB/SWISSPROT:Q92781 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:227796 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fundus albipunctatus relationship: Orphanet:317343 Orphanet:52427 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis punctata albescens property_value: alternative:term "HSD17B9" xsd:string property_value: alternative:term "RDH1" xsd:string property_value: alternative:term "retinol dehydrogenase 5 (11-cis and 9-cis)" xsd:string property_value: alternative:term "SDR9C5" xsd:string property_value: alternative:term "short chain dehydrogenase/reductase family 9C, member 5" xsd:string property_value: symbol "RDH5" xsd:string [Term] id: Orphanet:118257 name: RecQ protein-like 4 xref: ENSEMBL:ENSG00000160957 xref: GENATLAS:RECQL4 xref: HGNC:9949 xref: OMIM:603780 xref: UNIPROTKB/SWISSPROT:O94761 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1225 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Baller-Gerold syndrome relationship: Orphanet:317343 Orphanet:221016 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rothmund-Thomson syndrome type 2 relationship: Orphanet:317343 Orphanet:3021 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! RAPADILINO syndrome property_value: alternative:term "RecQ4" xsd:string property_value: symbol "RECQL4" xsd:string [Term] id: Orphanet:118260 name: receptor accessory protein 1 xref: ENSEMBL:ENSG00000068615 xref: GENATLAS:REEP1 xref: HGNC:25786 xref: OMIM:609139 xref: UNIPROTKB/SWISSPROT:Q9H902 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101011 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant spastic paraplegia type 31 relationship: Orphanet:317343 Orphanet:139536 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Distal hereditary motor neuropathy type 5 property_value: alternative:term "C2orf23" xsd:string property_value: alternative:term "chromosome 2 open reading frame 23" xsd:string property_value: alternative:term "FLJ13110" xsd:string property_value: alternative:term "receptor expression enhancing protein 1" xsd:string property_value: alternative:term "SPG31" xsd:string property_value: symbol "REEP1" xsd:string [Term] id: Orphanet:118272 name: reelin xref: ENSEMBL:ENSG00000189056 xref: GENATLAS:RELN xref: HGNC:9957 xref: OMIM:600514 xref: UNIPROTKB/SWISSPROT:P78509 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:89844 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lissencephaly syndrome, Norman-Roberts type property_value: alternative:term "PRO1598" xsd:string property_value: alternative:term "RL" xsd:string property_value: symbol "RELN" xsd:string [Term] id: Orphanet:118274 name: ret proto-oncogene xref: ENSEMBL:ENSG00000165731 xref: GENATLAS:RET xref: HGNC:9967 xref: IUPHAR:2185 xref: OMIM:164761 xref: UNIPROTKB/SWISSPROT:P07949 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1848 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bilateral renal agenesis relationship: Orphanet:317343 Orphanet:247698 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple endocrine neoplasia type 2A relationship: Orphanet:317343 Orphanet:247709 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple endocrine neoplasia type 2B relationship: Orphanet:317343 Orphanet:93172 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Unilateral renal dysplasia relationship: Orphanet:317343 Orphanet:93173 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bilateral renal dysplasia relationship: Orphanet:317343 Orphanet:99361 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial medullary thyroid carcinoma relationship: Orphanet:317343 Orphanet:99803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Haddad syndrome relationship: Orphanet:317345 Orphanet:388 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hirschsprung disease relationship: Orphanet:317348 Orphanet:146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Papillary or follicular thyroid carcinoma property_value: alternative:term "cadherin-related family member 16" xsd:string property_value: alternative:term "CDHF12" xsd:string property_value: alternative:term "CDHR16" xsd:string property_value: alternative:term "Hirschsprung disease 1" xsd:string property_value: alternative:term "HSCR1" xsd:string property_value: alternative:term "MEN2A" xsd:string property_value: alternative:term "MEN2B" xsd:string property_value: alternative:term "MTC1" xsd:string property_value: alternative:term "multiple endocrine neoplasia and medullary thyroid carcinoma 1" xsd:string property_value: alternative:term "PTC" xsd:string property_value: alternative:term "RET51" xsd:string property_value: symbol "RET" xsd:string [Term] id: Orphanet:118283 name: replication factor C (activator 1) 2, 40kDa xref: ENSEMBL:ENSG00000049541 xref: GENATLAS:RFC2 xref: HGNC:9970 xref: OMIM:600404 xref: REACTOME:P35250 xref: UNIPROTKB/SWISSPROT:P35250 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Williams syndrome property_value: alternative:term "A1" xsd:string property_value: alternative:term "activator 1" xsd:string property_value: alternative:term "replication factor C (activator 1) 2 (40kD)" xsd:string property_value: alternative:term "RFC40" xsd:string property_value: symbol "RFC2" xsd:string [Term] id: Orphanet:118286 name: regulatory factor X, 5 (influences HLA class II expression) xref: ENSEMBL:ENSG00000143390 xref: GENATLAS:RFX5 xref: HGNC:9986 xref: OMIM:601863 xref: UNIPROTKB/SWISSPROT:P48382 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:572 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency by defective expression of HLA class 2 property_value: symbol "RFX5" xsd:string [Term] id: Orphanet:118288 name: regulatory factor X-associated ankyrin-containing protein xref: ENSEMBL:ENSG00000064490 xref: GENATLAS:RFXANK xref: HGNC:9987 xref: OMIM:603200 xref: UNIPROTKB/SWISSPROT:O14593 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:572 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency by defective expression of HLA class 2 property_value: alternative:term "ANKRA1" xsd:string property_value: alternative:term "ankyrin repeat-containing regulatory factor X-associated protein" xsd:string property_value: alternative:term "BLS" xsd:string property_value: alternative:term "DNA-binding protein RFXANK" xsd:string property_value: alternative:term "F14150_1" xsd:string property_value: alternative:term "MGC138628" xsd:string property_value: alternative:term "regulatory factor X subunit B" xsd:string property_value: alternative:term "RFX-B" xsd:string property_value: alternative:term "RFX-Bdelta4" xsd:string property_value: symbol "RFXANK" xsd:string [Term] id: Orphanet:118293 name: regulatory factor X-associated protein xref: ENSEMBL:ENSG00000133111 xref: GENATLAS:RFXAP xref: HGNC:9988 xref: OMIM:601861 xref: UNIPROTKB/SWISSPROT:O00287 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:572 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency by defective expression of HLA class 2 property_value: symbol "RFXAP" xsd:string [Term] id: Orphanet:118295 name: retinal G protein coupled receptor xref: ENSEMBL:ENSG00000148604 xref: GENATLAS:RGR xref: HGNC:9990 xref: OMIM:600342 xref: REACTOME:P47804 xref: UNIPROTKB/SWISSPROT:P47804 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "RGR-opsin" xsd:string property_value: alternative:term "RP44" xsd:string property_value: symbol "RGR" xsd:string [Term] id: Orphanet:118299 name: regulator of G-protein signaling 9 xref: ENSEMBL:ENSG00000108370 xref: GENATLAS:RGS9 xref: HGNC:10004 xref: OMIM:604067 xref: REACTOME:O75916 xref: UNIPROTKB/SWISSPROT:O75916 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:75374 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bradyopsia property_value: alternative:term "MGC111763" xsd:string property_value: alternative:term "MGC26458" xsd:string property_value: alternative:term "PERRS" xsd:string property_value: alternative:term "regulator of G protein signalling 9" xsd:string property_value: alternative:term "regulator of G protein signalling 9L" xsd:string property_value: alternative:term "regulator of G-protein signaling 9L" xsd:string property_value: alternative:term "Regulator of G-protein signalling 9" xsd:string property_value: alternative:term "RGS9L" xsd:string property_value: symbol "RGS9" xsd:string [Term] id: Orphanet:1183 name: Opsoclonus-myoclonus syndrome xref: MEDDRA:10053854 xref: MESH:D053578 xref: SNOMED CT:230350000 xref: UMLS:C0393626 xref: UMLS:C1096154 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102005 ! Brain inflammatory disease relationship: part_of Orphanet:306753 ! Rare disease with myoclonus as a major feature relationship: part_of Orphanet:36388 ! Paraneoplastic neurologic syndrome property_value: alternative:term "Ataxo-opso-myoclonus syndrome" xsd:string property_value: alternative:term "Dancing eye syndrome" xsd:string property_value: alternative:term "Kinsbourne syndrome" xsd:string [Term] id: Orphanet:118301 name: regulator of G protein signaling 9 binding protein xref: ENSEMBL:ENSG00000186326 xref: GENATLAS:RGS9BP xref: HGNC:30304 xref: OMIM:607814 xref: REACTOME:Q6ZS82 xref: UNIPROTKB/SWISSPROT:Q6ZS82 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:75374 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bradyopsia property_value: alternative:term "FLJ45744" xsd:string property_value: alternative:term "PERRS" xsd:string property_value: alternative:term "R9AP" xsd:string property_value: alternative:term "Regulator of G protein signalling 9 binding protein" xsd:string property_value: alternative:term "RGS9" xsd:string property_value: symbol "RGS9BP" xsd:string [Term] id: Orphanet:118307 name: Rh-associated glycoprotein xref: ENSEMBL:ENSG00000112077 xref: GENATLAS:RHAG xref: HGNC:10006 xref: OMIM:180297 xref: REACTOME:Q02094 xref: UNIPROTKB/SWISSPROT:Q02094 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3203 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Overhydrated hereditary stomatocytosis relationship: Orphanet:317343 Orphanet:71275 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rh deficiency syndrome property_value: alternative:term "CD241" xsd:string property_value: alternative:term "RH50A" xsd:string property_value: alternative:term "Rhesus blood group-associated glycoprotein" xsd:string property_value: alternative:term "SLC42A1" xsd:string property_value: symbol "RHAG" xsd:string [Term] id: Orphanet:118311 name: Rh blood group, CcEe antigens xref: ENSEMBL:ENSG00000188672 xref: GENATLAS:RHCE xref: HGNC:10008 xref: OMIM:111700 xref: UNIPROTKB/SWISSPROT:P18577 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:71275 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rh deficiency syndrome property_value: alternative:term "CD240CE" xsd:string property_value: alternative:term "RH" xsd:string property_value: alternative:term "Rhesus blood group, CcEe antigens" xsd:string property_value: symbol "RHCE" xsd:string [Term] id: Orphanet:118315 name: rhodopsin xref: ENSEMBL:ENSG00000163914 xref: GENATLAS:RHO xref: HGNC:10012 xref: OMIM:180380 xref: REACTOME:P08100 xref: UNIPROTKB/SWISSPROT:P08100 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:215 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital stationary night blindness relationship: Orphanet:317343 Orphanet:52427 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis punctata albescens relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "OPN2" xsd:string property_value: alternative:term "opsin 2, rod pigment" xsd:string property_value: alternative:term "retinitis pigmentosa 4, autosomal dominant" xsd:string property_value: alternative:term "Rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant)" xsd:string property_value: alternative:term "RP4" xsd:string property_value: symbol "RHO" xsd:string [Term] id: Orphanet:118319 name: regulating synaptic membrane exocytosis 1 xref: ENSEMBL:ENSG00000079841 xref: GENATLAS:RIMS1 xref: HGNC:17282 xref: OMIM:606629 xref: REACTOME:Q86UR5 xref: UNIPROTKB/SWISSPROT:Q86UR5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone rod dystrophy property_value: alternative:term "CORD7" xsd:string property_value: alternative:term "KIAA0340" xsd:string property_value: alternative:term "RAB3 interacting protein 2" xsd:string property_value: alternative:term "Rab3-interacting molecule" xsd:string property_value: alternative:term "RAB3IP2" xsd:string property_value: alternative:term "RIM" xsd:string property_value: alternative:term "RIM1" xsd:string property_value: symbol "RIMS1" xsd:string [Term] id: Orphanet:118326 name: retinaldehyde binding protein 1 xref: ENSEMBL:ENSG00000140522 xref: GENATLAS:RLBP1 xref: HGNC:10024 xref: OMIM:180090 xref: REACTOME:P12271 xref: UNIPROTKB/SWISSPROT:P12271 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:227796 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fundus albipunctatus relationship: Orphanet:317343 Orphanet:52427 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis punctata albescens relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa relationship: Orphanet:317343 Orphanet:85128 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bothnia retinal dystrophy property_value: alternative:term "CRALBP" xsd:string property_value: alternative:term "retinaldehyde-binding protein 1" xsd:string property_value: symbol "RLBP1" xsd:string [Term] id: Orphanet:118329 name: ribonuclease H2, subunit A xref: ENSEMBL:ENSG00000104889 xref: GENATLAS:RNASEH2A xref: HGNC:18518 xref: OMIM:606034 xref: UNIPROTKB/SWISSPROT:O75792 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:51 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Aicardi-Goutières syndrome property_value: alternative:term "AGS4" xsd:string property_value: alternative:term "Aicardi-Goutieres syndrome 4" xsd:string property_value: alternative:term "ribonuclease H2, large subunit" xsd:string property_value: alternative:term "RNASEHI" xsd:string property_value: alternative:term "RNHIA" xsd:string property_value: alternative:term "RNHL" xsd:string property_value: symbol "RNASEH2A" xsd:string [Term] id: Orphanet:118335 name: ribonuclease H2, subunit B xref: ENSEMBL:ENSG00000136104 xref: GENATLAS:RNASEH2B xref: HGNC:25671 xref: OMIM:610326 xref: UNIPROTKB/SWISSPROT:Q5TBB1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:51 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Aicardi-Goutières syndrome property_value: alternative:term "AGS2" xsd:string property_value: alternative:term "Aicardi-Goutieres syndrome 2" xsd:string property_value: alternative:term "deleted in lymphocytic leukemia 8" xsd:string property_value: alternative:term "DLEU8" xsd:string property_value: alternative:term "FLJ11712" xsd:string property_value: symbol "RNASEH2B" xsd:string [Term] id: Orphanet:118340 name: ribonuclease H2, subunit C xref: ENSEMBL:ENSG00000172922 xref: GENATLAS:RNASEH2C xref: HGNC:24116 xref: OMIM:610330 xref: UNIPROTKB/SWISSPROT:Q8TDP1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:51 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Aicardi-Goutières syndrome property_value: alternative:term "AGS3" xsd:string property_value: alternative:term "Aicardi-Goutieres syndrome 3" xsd:string property_value: alternative:term "AYP1" xsd:string property_value: symbol "RNASEH2C" xsd:string [Term] id: Orphanet:118344 name: ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) xref: ENSEMBL:ENSG00000135828 xref: GENATLAS:RNASEL xref: HGNC:10050 xref: OMIM:180435 xref: REACTOME:Q05823 xref: UNIPROTKB/SWISSPROT:Q05823 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1331 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial prostate cancer property_value: alternative:term "PRCA1" xsd:string property_value: alternative:term "prostate cancer 1" xsd:string property_value: alternative:term "RNS4" xsd:string property_value: symbol "RNASEL" xsd:string [Term] id: Orphanet:118347 name: ring finger protein 139 xref: ENSEMBL:ENSG00000170881 xref: GENATLAS:RNF139 xref: HGNC:17023 xref: OMIM:603046 xref: UNIPROTKB/SWISSPROT:Q8WU17 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:151 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial renal cell carcinoma property_value: alternative:term "HRCA1" xsd:string property_value: alternative:term "RCA1" xsd:string property_value: alternative:term "TRC8" xsd:string property_value: symbol "RNF139" xsd:string [Term] id: Orphanet:118352 name: roundabout, axon guidance receptor, homolog 3 (Drosophila) xref: ENSEMBL:ENSG00000154134 xref: GENATLAS:ROBO3 xref: HGNC:13433 xref: OMIM:608630 xref: REACTOME:Q96MS0 xref: UNIPROTKB/SWISSPROT:Q96MS0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2744 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Horizontal gaze palsy with progressive scoliosis property_value: alternative:term "FLJ21044" xsd:string property_value: alternative:term "HGPPS" xsd:string property_value: alternative:term "HGPS" xsd:string property_value: alternative:term "horizontal gaze palsy with progressive scoliosis" xsd:string property_value: alternative:term "RBIG1" xsd:string property_value: alternative:term "roundabout (axon guidance receptor, Drosophila) homolog 3" xsd:string property_value: symbol "ROBO3" xsd:string [Term] id: Orphanet:118358 name: retinal outer segment membrane protein 1 xref: ENSEMBL:ENSG00000149489 xref: GENATLAS:ROM1 xref: HGNC:10254 xref: OMIM:180721 xref: UNIPROTKB/SWISSPROT:Q03395 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "ROM" xsd:string property_value: alternative:term "TSPAN23" xsd:string property_value: symbol "ROM1" xsd:string [Term] id: Orphanet:118362 name: receptor tyrosine kinase-like orphan receptor 2 xref: ENSEMBL:ENSG00000169071 xref: GENATLAS:ROR2 xref: HGNC:10257 xref: IUPHAR:1846 xref: OMIM:602337 xref: REACTOME:Q01974 xref: UNIPROTKB/SWISSPROT:Q01974 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1507 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive Robinow syndrome relationship: Orphanet:317343 Orphanet:93383 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brachydactyly type B property_value: alternative:term "BDB" xsd:string property_value: alternative:term "BDB1" xsd:string property_value: alternative:term "NTRKR2" xsd:string property_value: symbol "ROR2" xsd:string [Term] id: Orphanet:118367 name: retinitis pigmentosa 1 (autosomal dominant) xref: ENSEMBL:ENSG00000104237 xref: GENATLAS:RP1 xref: HGNC:10263 xref: OMIM:603937 xref: UNIPROTKB/SWISSPROT:P56715 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "DCDC4A" xsd:string property_value: symbol "RP1" xsd:string [Term] id: Orphanet:118370 name: retinitis pigmentosa 2 (X-linked recessive) xref: ENSEMBL:ENSG00000102218 xref: GENATLAS:RP2 xref: HGNC:10274 xref: OMIM:300757 xref: UNIPROTKB/SWISSPROT:O75695 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "NM23-H10" xsd:string property_value: alternative:term "NME10" xsd:string property_value: alternative:term "TBCCD2" xsd:string property_value: symbol "RP2" xsd:string [Term] id: Orphanet:118373 name: retinitis pigmentosa 9 (autosomal dominant) xref: ENSEMBL:ENSG00000164610 xref: GENATLAS:RP9 xref: HGNC:10288 xref: OMIM:607331 xref: UNIPROTKB/SWISSPROT:Q8TA86 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "PAP-1" xsd:string property_value: alternative:term "Pim-1 kinase associated protein" xsd:string property_value: symbol "RP9" xsd:string [Term] id: Orphanet:118376 name: retinal pigment epithelium-specific protein 65kDa xref: ENSEMBL:ENSG00000116745 xref: GENATLAS:RPE65 xref: HGNC:10294 xref: OMIM:180069 xref: REACTOME:Q16518 xref: UNIPROTKB/SWISSPROT:Q16518 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:180 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Choroideremia relationship: Orphanet:317343 Orphanet:364055 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe early-childhood-onset retinal dystrophy relationship: Orphanet:317343 Orphanet:65 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber congenital amaurosis relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "all-trans-retinyl-palmitate hydrolase" xsd:string property_value: alternative:term "LCA2" xsd:string property_value: alternative:term "rd12" xsd:string property_value: alternative:term "retinal pigment epithelium-specific protein (65kD)" xsd:string property_value: alternative:term "retinol isomerase" xsd:string property_value: alternative:term "RP20" xsd:string property_value: symbol "RPE65" xsd:string [Term] id: Orphanet:118381 name: retinitis pigmentosa GTPase regulator xref: ENSEMBL:ENSG00000156313 xref: GENATLAS:RPGR xref: HGNC:10295 xref: OMIM:312610 xref: UNIPROTKB/SWISSPROT:Q92834 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone rod dystrophy relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia relationship: Orphanet:317343 Orphanet:247522 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia - retinitis pigmentosa relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa relationship: Orphanet:327767 Orphanet:49382 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Achromatopsia property_value: alternative:term "COD1" xsd:string property_value: alternative:term "cone dystrophy 1 (X-linked)" xsd:string property_value: alternative:term "CORDX1" xsd:string property_value: alternative:term "CRD" xsd:string property_value: alternative:term "retinitis pigmentosa 15" xsd:string property_value: alternative:term "RP15" xsd:string property_value: alternative:term "RP3" xsd:string property_value: symbol "RPGR" xsd:string [Term] id: Orphanet:118388 name: retinitis pigmentosa GTPase regulator interacting protein 1 xref: ENSEMBL:ENSG00000092200 xref: GENATLAS:RPGRIP1 xref: HGNC:13436 xref: OMIM:605446 xref: UNIPROTKB/SWISSPROT:Q96KN7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone rod dystrophy relationship: Orphanet:317343 Orphanet:65 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber congenital amaurosis relationship: Orphanet:327767 Orphanet:564 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Meckel syndrome property_value: alternative:term "CORD13" xsd:string property_value: alternative:term "LCA6" xsd:string property_value: alternative:term "RGI1" xsd:string property_value: alternative:term "RPGRIP" xsd:string property_value: symbol "RPGRIP1" xsd:string [Term] id: Orphanet:118400 name: ribosomal protein S19 xref: ENSEMBL:ENSG00000105372 xref: GENATLAS:RPS19 xref: HGNC:10402 xref: OMIM:603474 xref: REACTOME:P39019 xref: UNIPROTKB/SWISSPROT:P39019 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:124 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Blackfan-Diamond anemia property_value: alternative:term "DBA" xsd:string property_value: alternative:term "Diamond-Blackfan anemia" xsd:string property_value: alternative:term "S19" xsd:string property_value: symbol "RPS19" xsd:string [Term] id: Orphanet:118403 name: ribosomal protein S24 xref: ENSEMBL:ENSG00000138326 xref: GENATLAS:RPS24 xref: HGNC:10411 xref: OMIM:602412 xref: REACTOME:P62847 xref: UNIPROTKB/SWISSPROT:P62847 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:124 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Blackfan-Diamond anemia property_value: alternative:term "S24" xsd:string property_value: symbol "RPS24" xsd:string [Term] id: Orphanet:118405 name: ribosomal protein S6 kinase, 90kDa, polypeptide 3 xref: ENSEMBL:ENSG00000177189 xref: GENATLAS:RPS6KA3 xref: HGNC:10432 xref: IUPHAR:1528 xref: OMIM:300075 xref: REACTOME:P51812 xref: UNIPROTKB/SWISSPROT:P51812 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:192 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Coffin-Lowry syndrome relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit property_value: alternative:term "CLS" xsd:string property_value: alternative:term "Coffin-Lowry syndrome" xsd:string property_value: alternative:term "HU-3" xsd:string property_value: alternative:term "mental retardation, X-linked 19" xsd:string property_value: alternative:term "MRX19" xsd:string property_value: alternative:term "ribosomal protein S6 kinase, 90kD, polypeptide 3" xsd:string property_value: alternative:term "RSK" xsd:string property_value: alternative:term "RSK2" xsd:string property_value: symbol "RPS6KA3" xsd:string [Term] id: Orphanet:118411 name: retinoschisin 1 xref: ENSEMBL:ENSG00000102104 xref: GENATLAS:RS1 xref: HGNC:10457 xref: OMIM:300839 xref: UNIPROTKB/SWISSPROT:O15537 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:792 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked retinoschisis property_value: alternative:term "Retinoschisis (X-linked, juvenile) 1" xsd:string property_value: alternative:term "RS" xsd:string property_value: alternative:term "XLRS1" xsd:string property_value: symbol "RS1" xsd:string [Term] id: Orphanet:118415 name: R-spondin 1 xref: ENSEMBL:ENSG00000169218 xref: GENATLAS:RSPO1 xref: HGNC:21679 xref: OMIM:609595 xref: UNIPROTKB/SWISSPROT:Q2MKA7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:85112 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma property_value: alternative:term "FLJ40906" xsd:string property_value: alternative:term "R-spondin homolog (Xenopus laevis)" xsd:string property_value: alternative:term "RSPONDIN" xsd:string property_value: symbol "RSPO1" xsd:string [Term] id: Orphanet:118419 name: R-spondin 4 xref: ENSEMBL:ENSG00000101282 xref: GENATLAS:RSPO4 xref: HGNC:16175 xref: OMIM:610573 xref: UNIPROTKB/SWISSPROT:Q2I0M5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79143 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital anonychia property_value: alternative:term "C20orf182" xsd:string property_value: alternative:term "chromosome 20 open reading frame 182" xsd:string property_value: alternative:term "dJ824F16.3" xsd:string property_value: alternative:term "R-spondin family, member 4" xsd:string property_value: symbol "RSPO4" xsd:string [Term] id: Orphanet:118423 name: runt-related transcription factor 1 xref: ENSEMBL:ENSG00000159216 xref: GENATLAS:RUNX1 xref: HGNC:10471 xref: OMIM:151385 xref: UNIPROTKB/SWISSPROT:Q01196 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:71290 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial platelet syndrome with predisposition to acute myelogenous leukemia relationship: Orphanet:317347 Orphanet:521 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chronic myeloid leukemia relationship: Orphanet:317348 Orphanet:102724 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute myeloid leukemia with t(8;21)(q22;q22) translocation relationship: Orphanet:317348 Orphanet:99860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor B-cell acute lymphoblastic leukemia property_value: alternative:term "'Runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)'" xsd:string property_value: alternative:term "acute myeloid leukemia 1" xsd:string property_value: alternative:term "AML1" xsd:string property_value: alternative:term "aml1 oncogene" xsd:string property_value: alternative:term "AMLCR1" xsd:string property_value: alternative:term "CBFA2" xsd:string property_value: alternative:term "PEBP2A2" xsd:string property_value: symbol "RUNX1" xsd:string [Term] id: Orphanet:118429 name: runt-related transcription factor 2 xref: ENSEMBL:ENSG00000124813 xref: GENATLAS:RUNX2 xref: HGNC:10472 xref: OMIM:600211 xref: REACTOME:Q13950 xref: UNIPROTKB/SWISSPROT:Q13950 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1452 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cleidocranial dysplasia relationship: Orphanet:317343 Orphanet:2504 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Metaphyseal dysplasia - maxillary hypoplasia - brachydacty property_value: alternative:term "AML3" xsd:string property_value: alternative:term "CBFA1" xsd:string property_value: alternative:term "CCD" xsd:string property_value: alternative:term "CCD1" xsd:string property_value: alternative:term "PEBP2A1" xsd:string property_value: alternative:term "PEBP2aA1" xsd:string property_value: symbol "RUNX2" xsd:string [Term] id: Orphanet:118437 name: ryanodine receptor 1 (skeletal) xref: ENSEMBL:ENSG00000196218 xref: GENATLAS:RYR1 xref: HGNC:10483 xref: IUPHAR:747 xref: OMIM:180901 xref: REACTOME:P21817 xref: UNIPROTKB/SWISSPROT:P21817 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169189 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant centronuclear myopathy relationship: Orphanet:317343 Orphanet:178145 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Moderate multiminicore disease with hand involvement relationship: Orphanet:317343 Orphanet:324581 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Benign Samaritan congenital myopathy relationship: Orphanet:317343 Orphanet:423 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Malignant hyperthermia relationship: Orphanet:317343 Orphanet:597 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Central core disease relationship: Orphanet:317343 Orphanet:98905 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital multicore myopathy with external ophthalmoplegia relationship: Orphanet:317343 Orphanet:99741 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! King-Denborough syndrome property_value: alternative:term "CCO" xsd:string property_value: alternative:term "central core disease of muscle" xsd:string property_value: alternative:term "MHS" xsd:string property_value: alternative:term "MHS1" xsd:string property_value: alternative:term "RYR" xsd:string property_value: symbol "RYR1" xsd:string [Term] id: Orphanet:118443 name: ryanodine receptor 2 (cardiac) xref: ENSEMBL:ENSG00000198626 xref: GENATLAS:RYR2 xref: HGNC:10484 xref: OMIM:180902 xref: REACTOME:Q92736 xref: UNIPROTKB/SWISSPROT:Q92736 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:293888 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, left dominant form relationship: Orphanet:317343 Orphanet:293899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, biventricular form relationship: Orphanet:317343 Orphanet:293910 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, right dominant form relationship: Orphanet:317343 Orphanet:3286 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Catecholaminergic polymorphic ventricular tachycardia property_value: alternative:term "arrhythmogenic right ventricular dysplasia 2" xsd:string property_value: alternative:term "ARVC2" xsd:string property_value: alternative:term "ARVD2" xsd:string property_value: alternative:term "VTSIP" xsd:string property_value: symbol "RYR2" xsd:string [Term] id: Orphanet:118445 name: spastic ataxia of Charlevoix-Saguenay (sacsin) xref: ENSEMBL:ENSG00000151835 xref: GENATLAS:SACS xref: HGNC:10519 xref: OMIM:604490 xref: UNIPROTKB/SWISSPROT:Q9NZJ4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic ataxia of Charlevoix-Saguenay property_value: alternative:term "ARSACS" xsd:string property_value: alternative:term "DKFZp686B15167" xsd:string property_value: alternative:term "DNAJC29" xsd:string property_value: alternative:term "KIAA0730" xsd:string property_value: symbol "SACS" xsd:string [Term] id: Orphanet:118449 name: S-antigen; retina and pineal gland (arrestin) xref: ENSEMBL:ENSG00000130561 xref: GENATLAS:SAG xref: HGNC:10521 xref: OMIM:181031 xref: REACTOME:P10523 xref: UNIPROTKB/SWISSPROT:P10523 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:75382 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oguchi disease relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "'S-antigen; retina and pineal gland (arrestin)'" xsd:string property_value: alternative:term "ARRESTIN" xsd:string property_value: alternative:term "arrestin 1" xsd:string property_value: alternative:term "RP47" xsd:string property_value: symbol "SAG" xsd:string [Term] id: Orphanet:118451 name: spalt-like transcription factor 1 xref: ENSEMBL:ENSG00000103449 xref: GENATLAS:SALL1 xref: HGNC:10524 xref: OMIM:602218 xref: UNIPROTKB/SWISSPROT:Q9NSC2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:857 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Townes-Brocks syndrome property_value: alternative:term "Hsal1" xsd:string property_value: alternative:term "sal (Drosophila)-like 1" xsd:string property_value: alternative:term "Sal-like 1 (Drosophila)" xsd:string property_value: alternative:term "TBS" xsd:string property_value: alternative:term "ZNF794" xsd:string property_value: symbol "SALL1" xsd:string [Term] id: Orphanet:118456 name: spalt-like transcription factor 4 xref: ENSEMBL:ENSG00000101115 xref: GENATLAS:SALL4 xref: HGNC:15924 xref: OMIM:607343 xref: UNIPROTKB/SWISSPROT:Q9UJQ4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2307 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! IVIC syndrome relationship: Orphanet:317343 Orphanet:261647 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Okihiro syndrome due to a point mutation relationship: Orphanet:317343 Orphanet:959 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acro-renal-ocular syndrome relationship: Orphanet:317349 Orphanet:261638 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Okihiro syndrome due to 20q13 microdeletion property_value: alternative:term "dJ1112F19.1" xsd:string property_value: alternative:term "sal (Drosophila)-like 4" xsd:string property_value: alternative:term "Sal-like 4 (Drosophila)" xsd:string property_value: alternative:term "ZNF797" xsd:string property_value: symbol "SALL4" xsd:string [Term] id: Orphanet:118460 name: sterile alpha motif domain containing 9 xref: ENSEMBL:ENSG00000205413 xref: GENATLAS:SAMD9 xref: HGNC:1348 xref: OMIM:610456 xref: UNIPROTKB/SWISSPROT:Q5K651 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:306658 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Normocalcemic tumoral calcinosis property_value: alternative:term "C7orf5" xsd:string property_value: alternative:term "chromosome 7 open reading frame 5" xsd:string property_value: alternative:term "FLJ20073" xsd:string property_value: alternative:term "KIAA2004" xsd:string property_value: symbol "SAMD9" xsd:string [Term] id: Orphanet:118465 name: SAR1 homolog B (S. cerevisiae) xref: ENSEMBL:ENSG00000152700 xref: GENATLAS:SAR1B xref: HGNC:10535 xref: OMIM:607690 xref: REACTOME:Q9Y6B6 xref: UNIPROTKB/SWISSPROT:Q9Y6B6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:71 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chylomicron retention disease property_value: alternative:term "SAR1 gene homolog B (S. cerevisiae)" xsd:string property_value: alternative:term "SAR1a gene homolog (S. cerevisiae) 2" xsd:string property_value: alternative:term "SAR1a gene homolog 2 (S. cerevisiae)" xsd:string property_value: alternative:term "SARA2" xsd:string property_value: symbol "SAR1B" xsd:string [Term] id: Orphanet:118468 name: sarcosine dehydrogenase xref: ENSEMBL:ENSG00000123453 xref: GENATLAS:SARDH xref: HGNC:10536 xref: OMIM:604455 xref: UNIPROTKB/SWISSPROT:Q9UL12 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3129 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sarcosinemia property_value: alternative:term "DMGDHL1" xsd:string property_value: alternative:term "SDH" xsd:string property_value: symbol "SARDH" xsd:string [Term] id: Orphanet:118472 name: spermidine/spermine N1-acetyltransferase 1 xref: ENSEMBL:ENSG00000130066 xref: GENATLAS:SAT1 xref: HGNC:10540 xref: OMIM:313020 xref: REACTOME:P21673 xref: UNIPROTKB/SWISSPROT:P21673 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2340 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Keratosis follicularis spinulosa decalvans property_value: alternative:term "diamine N-acetyltransferase 1" xsd:string property_value: alternative:term "SAT" xsd:string property_value: alternative:term "spermidine/spermine N1-acetyltransferase" xsd:string property_value: alternative:term "SSAT" xsd:string property_value: symbol "SAT1" xsd:string [Term] id: Orphanet:118476 name: Shwachman-Bodian-Diamond syndrome xref: ENSEMBL:ENSG00000126524 xref: GENATLAS:SBDS xref: HGNC:19440 xref: OMIM:607444 xref: UNIPROTKB/SWISSPROT:Q9Y3A5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:811 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Shwachman-Diamond syndrome relationship: Orphanet:317345 Orphanet:88 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic aplastic anemia property_value: alternative:term "CGI-97" xsd:string property_value: alternative:term "FLJ10917" xsd:string property_value: alternative:term "SDS" xsd:string property_value: alternative:term "SWDS" xsd:string property_value: symbol "SBDS" xsd:string [Term] id: Orphanet:118482 name: SET binding factor 2 xref: ENSEMBL:ENSG00000133812 xref: GENATLAS:SBF2 xref: HGNC:2135 xref: OMIM:607697 xref: UNIPROTKB/SWISSPROT:Q86WG5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99956 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Charcot-Marie-Tooth disease type 4B2 property_value: alternative:term "Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)" xsd:string property_value: alternative:term "CMT4B2" xsd:string property_value: alternative:term "DENN/MADD domain containing 7B" xsd:string property_value: alternative:term "DENND7B" xsd:string property_value: alternative:term "KIAA1766" xsd:string property_value: alternative:term "MTMR13" xsd:string property_value: alternative:term "myotubularin related 13" xsd:string property_value: symbol "SBF2" xsd:string [Term] id: Orphanet:118487 name: sterol-C5-desaturase xref: ENSEMBL:ENSG00000109929 xref: GENATLAS:SC5DL xref: HGNC:10547 xref: OMIM:602286 xref: REACTOME:O75845 xref: UNIPROTKB/SWISSPROT:O75845 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:46059 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lathosterolosis property_value: alternative:term "lathosterol oxidase" xsd:string property_value: alternative:term "SC5DL" xsd:string property_value: alternative:term "sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like" xsd:string property_value: alternative:term "Sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like" xsd:string property_value: alternative:term "sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like" xsd:string property_value: symbol "SC5D" xsd:string [Term] id: Orphanet:118489 name: sodium channel, voltage-gated, type I, alpha subunit xref: ENSEMBL:ENSG00000144285 xref: GENATLAS:SCN1A xref: HGNC:10585 xref: IUPHAR:578 xref: OMIM:182389 xref: REACTOME:P35498 xref: UNIPROTKB/SWISSPROT:P35498 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1942 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epilepsy with myoclonic-astatic seizures relationship: Orphanet:317343 Orphanet:2382 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lennox-Gastaut syndrome relationship: Orphanet:317343 Orphanet:293181 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Malignant migrating partial seizures of infancy relationship: Orphanet:317343 Orphanet:33069 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Dravet syndrome relationship: Orphanet:317343 Orphanet:36387 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized epilepsy with febrile seizures-plus context relationship: Orphanet:317343 Orphanet:569 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial or sporadic hemiplegic migraine property_value: alternative:term "FEB3" xsd:string property_value: alternative:term "febrile convulsions 3" xsd:string property_value: alternative:term "GEFSP2" xsd:string property_value: alternative:term "HBSCI" xsd:string property_value: alternative:term "NAC1" xsd:string property_value: alternative:term "Nav1.1" xsd:string property_value: alternative:term "SCN1" xsd:string property_value: alternative:term "SMEI" xsd:string property_value: symbol "SCN1A" xsd:string [Term] id: Orphanet:118498 name: sodium channel, voltage-gated, type I, beta subunit xref: ENSEMBL:ENSG00000105711 xref: GENATLAS:SCN1B xref: HGNC:10586 xref: OMIM:600235 xref: REACTOME:Q07699 xref: UNIPROTKB/SWISSPROT:Q07699 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:130 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brugada syndrome relationship: Orphanet:317343 Orphanet:33069 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Dravet syndrome relationship: Orphanet:317343 Orphanet:36387 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized epilepsy with febrile seizures-plus context relationship: Orphanet:317343 Orphanet:871 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial progressive cardiac conduction defect relationship: Orphanet:317345 Orphanet:334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial atrial fibrillation property_value: alternative:term "Sodium channel, voltage-gated, type I, beta" xsd:string property_value: alternative:term "sodium channel, voltage-gated, type I, beta polypeptide" xsd:string property_value: symbol "SCN1B" xsd:string [Term] id: Orphanet:1185 name: Spinocerebellar ataxia - dysmorphism xref: ICD10:G11.8 xref: OMIM:271270 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:183518 ! Rare hereditary ataxia [Term] id: Orphanet:118500 name: sodium channel, voltage-gated, type II, alpha subunit xref: ENSEMBL:ENSG00000136531 xref: GENATLAS:SCN2A xref: HGNC:10588 xref: IUPHAR:579 xref: OMIM:182390 xref: REACTOME:Q99250 xref: UNIPROTKB/SWISSPROT:Q99250 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:140927 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Benign familial neonatal-infantile seizures relationship: Orphanet:317343 Orphanet:1934 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early infantile epileptic encephalopathy relationship: Orphanet:317343 Orphanet:306 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Benign familial infantile seizures relationship: Orphanet:317343 Orphanet:3451 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! West syndrome relationship: Orphanet:317343 Orphanet:36387 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized epilepsy with febrile seizures-plus context relationship: Orphanet:327767 Orphanet:33069 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Dravet syndrome property_value: alternative:term "HBSCI" xsd:string property_value: alternative:term "HBSCII" xsd:string property_value: alternative:term "Nav1.2" xsd:string property_value: alternative:term "SCN2A1" xsd:string property_value: alternative:term "SCN2A2" xsd:string property_value: alternative:term "sodium channel, voltage-gated, type II, alpha 1 polypeptide" xsd:string property_value: alternative:term "sodium channel, voltage-gated, type II, alpha 2 polypeptide" xsd:string property_value: symbol "SCN2A" xsd:string [Term] id: Orphanet:118507 name: sodium channel, voltage-gated, type IV, alpha subunit xref: ENSEMBL:ENSG00000007314 xref: GENATLAS:SCN4A xref: HGNC:10591 xref: IUPHAR:581 xref: OMIM:603967 xref: REACTOME:P35499 xref: UNIPROTKB/SWISSPROT:P35499 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:681 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hypokalemic periodic paralysis relationship: Orphanet:317343 Orphanet:682 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperkalemic periodic paralysis relationship: Orphanet:317343 Orphanet:684 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Paramyotonia congenita of Von Eulenburg relationship: Orphanet:317343 Orphanet:98913 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Postsynaptic congenital myasthenic syndromes relationship: Orphanet:317343 Orphanet:99734 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myotonia fluctuans relationship: Orphanet:317343 Orphanet:99735 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myotonia permanens relationship: Orphanet:317343 Orphanet:99736 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acetazolamide-responsive myotonia property_value: alternative:term "HYKPP" xsd:string property_value: alternative:term "HYPP" xsd:string property_value: alternative:term "Nav1.4" xsd:string property_value: alternative:term "SkM1" xsd:string property_value: symbol "SCN4A" xsd:string [Term] id: Orphanet:118513 name: sodium channel, voltage-gated, type V, alpha subunit xref: ENSEMBL:ENSG00000183873 xref: GENATLAS:SCN5A xref: HGNC:10593 xref: IUPHAR:582 xref: OMIM:600163 xref: REACTOME:Q14524 xref: UNIPROTKB/SWISSPROT:Q14524 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101016 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Romano-Ward syndrome relationship: Orphanet:317343 Orphanet:130 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brugada syndrome relationship: Orphanet:317343 Orphanet:1344 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atrial stand still relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317343 Orphanet:166282 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial sick sinus syndrome relationship: Orphanet:317343 Orphanet:228140 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic ventricular fibrillation, not Brugada type relationship: Orphanet:317343 Orphanet:334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial atrial fibrillation relationship: Orphanet:317343 Orphanet:871 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial progressive cardiac conduction defect property_value: alternative:term "CDCD2" xsd:string property_value: alternative:term "CMD1E" xsd:string property_value: alternative:term "CMPD2" xsd:string property_value: alternative:term "HB1" xsd:string property_value: alternative:term "HB2" xsd:string property_value: alternative:term "HBBD" xsd:string property_value: alternative:term "HH1" xsd:string property_value: alternative:term "ICCD" xsd:string property_value: alternative:term "IVF" xsd:string property_value: alternative:term "long QT syndrome 3" xsd:string property_value: alternative:term "LQT3" xsd:string property_value: alternative:term "Nav1.5" xsd:string property_value: alternative:term "PFHB1" xsd:string property_value: alternative:term "sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)" xsd:string property_value: alternative:term "SSS1" xsd:string property_value: symbol "SCN5A" xsd:string [Term] id: Orphanet:118525 name: sodium channel, voltage-gated, type IX, alpha subunit xref: ENSEMBL:ENSG00000169432 xref: GENATLAS:SCN9A xref: HGNC:10597 xref: IUPHAR:584 xref: OMIM:603415 xref: REACTOME:Q15858 xref: UNIPROTKB/SWISSPROT:Q15858 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1956 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Erythromelalgia relationship: Orphanet:317343 Orphanet:306577 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sodium channelopathy-related small fiber neuropathy relationship: Orphanet:317343 Orphanet:36387 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized epilepsy with febrile seizures-plus context relationship: Orphanet:317343 Orphanet:46348 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Paroxysmal extreme pain disorder relationship: Orphanet:317343 Orphanet:88642 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Channelopathy-associated congenital insensitivity to pain relationship: Orphanet:317343 Orphanet:90026 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Primary erythermalgia relationship: Orphanet:317343 Orphanet:970 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary sensory and autonomic neuropathy type 2 relationship: Orphanet:317346 Orphanet:33069 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Dravet syndrome property_value: alternative:term "ETHA" xsd:string property_value: alternative:term "Nav1.7" xsd:string property_value: alternative:term "NE-NA" xsd:string property_value: alternative:term "NENA" xsd:string property_value: alternative:term "PN1" xsd:string property_value: alternative:term "sodium channel, voltage-gated, type IX, alpha polypeptide" xsd:string property_value: symbol "SCN9A" xsd:string [Term] id: Orphanet:118532 name: sodium channel, non-voltage-gated 1 alpha subunit xref: ENSEMBL:ENSG00000111319 xref: GENATLAS:SCNN1A xref: HGNC:10599 xref: OMIM:600228 xref: REACTOME:P37088 xref: UNIPROTKB/SWISSPROT:P37088 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171876 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized pseudohypoaldosteronism type 1 relationship: Orphanet:317343 Orphanet:60033 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Idiopathic bronchiectasis property_value: alternative:term "ENaCalpha" xsd:string property_value: alternative:term "SCNN1" xsd:string property_value: alternative:term "sodium channel, non-voltage-gated 1 alpha" xsd:string property_value: alternative:term "Sodium channel, nonvoltage-gated 1 alpha" xsd:string property_value: symbol "SCNN1A" xsd:string [Term] id: Orphanet:118536 name: sodium channel, non-voltage-gated 1, beta subunit xref: ENSEMBL:ENSG00000168447 xref: GENATLAS:SCNN1B xref: HGNC:10600 xref: OMIM:600760 xref: REACTOME:P51168 xref: UNIPROTKB/SWISSPROT:P51168 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171876 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized pseudohypoaldosteronism type 1 relationship: Orphanet:317343 Orphanet:526 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Liddle syndrome relationship: Orphanet:317343 Orphanet:60033 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Idiopathic bronchiectasis property_value: alternative:term "ENaCbeta" xsd:string property_value: alternative:term "Liddle syndrome" xsd:string property_value: alternative:term "sodium channel, non-voltage-gated 1, beta" xsd:string property_value: alternative:term "sodium channel, nonvoltage-gated 1, beta" xsd:string property_value: alternative:term "Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome)" xsd:string property_value: symbol "SCNN1B" xsd:string [Term] id: Orphanet:118539 name: sodium channel, non-voltage-gated 1, gamma subunit xref: ENSEMBL:ENSG00000166828 xref: GENATLAS:SCNN1G xref: HGNC:10602 xref: OMIM:600761 xref: REACTOME:P51170 xref: UNIPROTKB/SWISSPROT:P51170 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171876 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized pseudohypoaldosteronism type 1 relationship: Orphanet:317343 Orphanet:526 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Liddle syndrome relationship: Orphanet:317343 Orphanet:60033 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Idiopathic bronchiectasis property_value: alternative:term "ENaCgamma" xsd:string property_value: alternative:term "SCNEG" xsd:string property_value: alternative:term "sodium channel, non-voltage-gated 1, gamma" xsd:string property_value: alternative:term "Sodium channel, nonvoltage-gated 1, gamma" xsd:string property_value: symbol "SCNN1G" xsd:string [Term] id: Orphanet:118543 name: SCO1 cytochrome c oxidase assembly protein xref: ENSEMBL:ENSG00000133028 xref: GENATLAS:SCO1 xref: HGNC:10603 xref: OMIM:603644 xref: UNIPROTKB/SWISSPROT:O75880 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1561 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fatal infantile cytochrome C oxidase deficiency property_value: alternative:term "SCO (cytochrome oxidase deficient, yeast) homolog 1" xsd:string property_value: alternative:term "SCO cytochrome oxidase deficient homolog 1 (yeast)" xsd:string property_value: alternative:term "SCOD1" xsd:string property_value: symbol "SCO1" xsd:string [Term] id: Orphanet:118546 name: SCO2 cytochrome c oxidase assembly protein xref: ENSEMBL:ENSG00000130489 xref: GENATLAS:SCO2 xref: HGNC:10604 xref: OMIM:604272 xref: UNIPROTKB/SWISSPROT:O43819 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1561 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fatal infantile cytochrome C oxidase deficiency relationship: Orphanet:317343 Orphanet:70474 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with cardiomyopathy relationship: Orphanet:317343 Orphanet:98619 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rare isolated myopia property_value: alternative:term "SCO (cytochrome oxidase deficient, yeast) homolog 2" xsd:string property_value: alternative:term "SCO cytochrome oxidase deficient homolog 2 (yeast)" xsd:string property_value: alternative:term "SCO1L" xsd:string property_value: symbol "SCO2" xsd:string [Term] id: Orphanet:118549 name: succinate dehydrogenase complex, subunit A, flavoprotein (Fp) xref: ENSEMBL:ENSG00000073578 xref: GENATLAS:SDHA xref: HGNC:10680 xref: OMIM:600857 xref: REACTOME:P31040 xref: UNIPROTKB/SWISSPROT:P31040 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317343 Orphanet:255241 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with leukodystrophy relationship: Orphanet:317343 Orphanet:29072 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary pheochromocytoma-paraganglioma relationship: Orphanet:317343 Orphanet:3208 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated succinate-CoQ reductase deficiency relationship: Orphanet:317345 Orphanet:44890 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gastrointestinal stromal tumor property_value: alternative:term "FP" xsd:string property_value: alternative:term "SDH2" xsd:string property_value: alternative:term "SDHF" xsd:string property_value: symbol "SDHA" xsd:string [Term] id: Orphanet:118554 name: succinate dehydrogenase complex, subunit B, iron sulfur (Ip) xref: ENSEMBL:ENSG00000117118 xref: GENATLAS:SDHB xref: HGNC:10681 xref: OMIM:185470 xref: REACTOME:P21912 xref: UNIPROTKB/SWISSPROT:P21912 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:201 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cowden syndrome relationship: Orphanet:317343 Orphanet:29072 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary pheochromocytoma-paraganglioma relationship: Orphanet:317343 Orphanet:3208 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated succinate-CoQ reductase deficiency relationship: Orphanet:317343 Orphanet:97286 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Carney-Stratakis syndrome relationship: Orphanet:317345 Orphanet:44890 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gastrointestinal stromal tumor property_value: alternative:term "SDH" xsd:string property_value: alternative:term "SDH1" xsd:string property_value: symbol "SDHB" xsd:string [Term] id: Orphanet:118558 name: succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa xref: ENSEMBL:ENSG00000143252 xref: GENATLAS:SDHC xref: HGNC:10682 xref: OMIM:602413 xref: REACTOME:Q99643 xref: UNIPROTKB/SWISSPROT:Q99643 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:201 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cowden syndrome relationship: Orphanet:317343 Orphanet:29072 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary pheochromocytoma-paraganglioma relationship: Orphanet:317343 Orphanet:97286 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Carney-Stratakis syndrome relationship: Orphanet:317345 Orphanet:44890 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gastrointestinal stromal tumor property_value: alternative:term "PGL3" xsd:string property_value: alternative:term "succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD" xsd:string property_value: symbol "SDHC" xsd:string [Term] id: Orphanet:118561 name: succinate dehydrogenase complex, subunit D, integral membrane protein xref: ENSEMBL:ENSG00000204370 xref: GENATLAS:SDHD xref: HGNC:10683 xref: OMIM:602690 xref: REACTOME:O14521 xref: UNIPROTKB/SWISSPROT:O14521 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:201 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cowden syndrome relationship: Orphanet:317343 Orphanet:29072 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary pheochromocytoma-paraganglioma relationship: Orphanet:317343 Orphanet:97286 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Carney-Stratakis syndrome relationship: Orphanet:317345 Orphanet:100093 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Carcinoid tumor and carcinoid syndrome property_value: alternative:term "PGL" xsd:string property_value: alternative:term "PGL1" xsd:string property_value: symbol "SDHD" xsd:string [Term] id: Orphanet:118565 name: Sec23 homolog A (S. cerevisiae) xref: ENSEMBL:ENSG00000100934 xref: GENATLAS:SEC23A xref: HGNC:10701 xref: OMIM:610511 xref: REACTOME:Q15436 xref: UNIPROTKB/SWISSPROT:Q15436 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:50814 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Craniolenticulosutural dysplasia property_value: alternative:term "Sec23 (S. cerevisiae) homolog A" xsd:string property_value: symbol "SEC23A" xsd:string [Term] id: Orphanet:118567 name: SEC63 homolog (S. cerevisiae) xref: ENSEMBL:ENSG00000025796 xref: GENATLAS:SEC63 xref: HGNC:21082 xref: OMIM:608648 xref: UNIPROTKB/SWISSPROT:Q9UGP8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2924 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated polycystic liver disease property_value: alternative:term "DNAJC23" xsd:string property_value: alternative:term "ERdj2" xsd:string property_value: alternative:term "PRO2507" xsd:string property_value: alternative:term "SEC63-like (S. cerevisiae)" xsd:string property_value: alternative:term "SEC63L" xsd:string property_value: symbol "SEC63" xsd:string [Term] id: Orphanet:118590 name: sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E xref: ENSEMBL:ENSG00000170381 xref: GENATLAS:SEMA3E xref: HGNC:10727 xref: OMIM:608166 xref: REACTOME:O15041 xref: UNIPROTKB/SWISSPROT:O15041 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:138 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CHARGE syndrome property_value: alternative:term "coll-5" xsd:string property_value: alternative:term "KIAA0331" xsd:string property_value: alternative:term "M-sema H" xsd:string property_value: alternative:term "M-SemaK" xsd:string property_value: alternative:term "SEMAH" xsd:string property_value: symbol "SEMA3E" xsd:string [Term] id: Orphanet:118596 name: selenoprotein N, 1 xref: ENSEMBL:ENSG00000162430 xref: GENATLAS:SEPN1 xref: HGNC:15999 xref: OMIM:606210 xref: UNIPROTKB/SWISSPROT:Q9NZV5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2020 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital fiber-type disproportion myopathy relationship: Orphanet:317343 Orphanet:324604 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Classic multiminicore myopathy relationship: Orphanet:317343 Orphanet:84132 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Desmin-related myopathy with Mallory body-like inclusions relationship: Orphanet:317343 Orphanet:97244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rigid spine syndrome property_value: alternative:term "MDRS1" xsd:string property_value: alternative:term "rigid spine muscular dystrophy 1" xsd:string property_value: alternative:term "RSMD1" xsd:string property_value: alternative:term "RSS" xsd:string property_value: alternative:term "selN" xsd:string property_value: symbol "SEPN1" xsd:string [Term] id: Orphanet:1186 name: Infantile onset spinocerebellar ataxia xref: ICD10:G11.1 xref: MESH:C535523 xref: OMIM:271245 xref: UMLS:C1849096 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254871 ! Mitochondrial DNA depletion syndrome, hepatocerebral form relationship: part_of Orphanet:98098 ! Autosomal recessive degenerative and progressive cerebellar ataxia property_value: alternative:term "IOSCA" xsd:string property_value: alternative:term "Ohaha syndrome" xsd:string property_value: alternative:term "Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis" xsd:string [Term] id: Orphanet:118602 name: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 xref: ENSEMBL:ENSG00000197249 xref: GENATLAS:SERPINA1 xref: HGNC:8941 xref: OMIM:107400 xref: REACTOME:P01009 xref: UNIPROTKB/SWISSPROT:P01009 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178396 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation relationship: Orphanet:317343 Orphanet:60 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alpha-1-antitrypsin deficiency property_value: alternative:term "A1A" xsd:string property_value: alternative:term "A1AT" xsd:string property_value: alternative:term "AAT" xsd:string property_value: alternative:term "alpha-1-antitrypsin" xsd:string property_value: alternative:term "alpha1AT" xsd:string property_value: alternative:term "PI" xsd:string property_value: alternative:term "PI1" xsd:string property_value: alternative:term "protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin" xsd:string property_value: alternative:term "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1" xsd:string property_value: symbol "SERPINA1" xsd:string [Term] id: Orphanet:118609 name: serpin peptidase inhibitor, clade C (antithrombin), member 1 xref: ENSEMBL:ENSG00000117601 xref: GENATLAS:SERPINC1 xref: HGNC:775 xref: IUPHAR:2632 xref: OMIM:107300 xref: REACTOME:P01008 xref: UNIPROTKB/SWISSPROT:P01008 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:82 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary thrombophilia due to congenital antithrombin deficiency property_value: alternative:term "antithrombin (aa 375-432)" xsd:string property_value: alternative:term "antithrombin III" xsd:string property_value: alternative:term "AT3" xsd:string property_value: alternative:term "ATIII" xsd:string property_value: alternative:term "coding sequence signal peptide antithrombin part 1" xsd:string property_value: alternative:term "MGC22579" xsd:string property_value: alternative:term "serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1" xsd:string property_value: alternative:term "signal peptide antithrombin part 1" xsd:string property_value: symbol "SERPINC1" xsd:string [Term] id: Orphanet:118613 name: serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 xref: ENSEMBL:ENSG00000106366 xref: GENATLAS:SERPINE1 xref: HGNC:8583 xref: OMIM:173360 xref: REACTOME:P05121 xref: UNIPROTKB/SWISSPROT:P05121 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:465 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital plasminogen activator inhibitor type 1 deficiency property_value: alternative:term "PAI" xsd:string property_value: alternative:term "PAI1" xsd:string property_value: alternative:term "PLANH1" xsd:string property_value: alternative:term "plasminogen activator inhibitor, type I" xsd:string property_value: alternative:term "serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1" xsd:string property_value: symbol "SERPINE1" xsd:string [Term] id: Orphanet:118618 name: serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 xref: ENSEMBL:ENSG00000149131 xref: GENATLAS:SERPING1 xref: HGNC:1228 xref: OMIM:606860 xref: REACTOME:P05155 xref: UNIPROTKB/SWISSPROT:P05155 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100050 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary angioedema type 1 relationship: Orphanet:317343 Orphanet:100051 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary angioedema type 2 relationship: Orphanet:317343 Orphanet:169147 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency due to an early component of complement deficiency property_value: alternative:term "angioedema, hereditary" xsd:string property_value: alternative:term "C1-INH" xsd:string property_value: alternative:term "C1IN" xsd:string property_value: alternative:term "C1NH" xsd:string property_value: alternative:term "HAE1" xsd:string property_value: alternative:term "HAE2" xsd:string property_value: alternative:term "plasma protease C1 inhibitor" xsd:string property_value: alternative:term "serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)" xsd:string property_value: alternative:term "Serpin peptidase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)" xsd:string property_value: symbol "SERPING1" xsd:string [Term] id: Orphanet:118623 name: serpin peptidase inhibitor, clade I (neuroserpin), member 1 xref: ENSEMBL:ENSG00000163536 xref: GENATLAS:SERPINI1 xref: HGNC:8943 xref: OMIM:602445 xref: UNIPROTKB/SWISSPROT:Q99574 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:85110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial encephalopathy with neuroserpin inclusion bodies property_value: alternative:term "neuroserpin" xsd:string property_value: alternative:term "PI12" xsd:string property_value: alternative:term "serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1" xsd:string property_value: symbol "SERPINI1" xsd:string [Term] id: Orphanet:118627 name: senataxin xref: ENSEMBL:ENSG00000107290 xref: GENATLAS:SETX xref: HGNC:445 xref: OMIM:608465 xref: UNIPROTKB/SWISSPROT:Q7Z333 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:357043 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis type 4 relationship: Orphanet:317343 Orphanet:64753 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia with axonal neuropathy type 2 property_value: alternative:term "ALS4" xsd:string property_value: alternative:term "amyotrophic lateral sclerosis 4" xsd:string property_value: alternative:term "AOA2" xsd:string property_value: alternative:term "KIAA0625" xsd:string property_value: alternative:term "SCAR1" xsd:string property_value: alternative:term "spinocerebellar ataxia, recessive, non-Friedreich type 1" xsd:string property_value: symbol "SETX" xsd:string [Term] id: Orphanet:118633 name: surfactant protein A1 xref: ENSEMBL:ENSG00000122852 xref: GENATLAS:SFTPA1 xref: HGNC:10798 xref: OMIM:178630 xref: REACTOME:Q8IWL2 xref: UNIPROTKB/SWISSPROT:Q8IWL2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:2032 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic pulmonary fibrosis property_value: alternative:term "COLEC4" xsd:string property_value: alternative:term "SFTP1" xsd:string property_value: alternative:term "SP-A" xsd:string property_value: alternative:term "SP-A1" xsd:string property_value: alternative:term "Surfactant, pulmonary-associated protein A1" xsd:string property_value: alternative:term "surfactant, pulmonary-associated protein A1A" xsd:string property_value: symbol "SFTPA1" xsd:string [Term] id: Orphanet:118639 name: surfactant protein B xref: ENSEMBL:ENSG00000168878 xref: GENATLAS:SFTPB xref: HGNC:10801 xref: OMIM:178640 xref: UNIPROTKB/SWISSPROT:P07988 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:217563 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal acute respiratory distress with surfactant metabolism deficiency relationship: Orphanet:317343 Orphanet:264675 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital pulmonary alveolar proteinosis relationship: Orphanet:317345 Orphanet:70587 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Infant acute respiratory distress syndrome property_value: alternative:term "SFTP3" xsd:string property_value: alternative:term "SP-B" xsd:string property_value: alternative:term "Surfactant, pulmonary-associated protein B" xsd:string property_value: symbol "SFTPB" xsd:string [Term] id: Orphanet:118643 name: surfactant protein C xref: ENSEMBL:ENSG00000168484 xref: GENATLAS:SFTPC xref: HGNC:10802 xref: OMIM:178620 xref: UNIPROTKB/SWISSPROT:P11686 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:217566 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chronic respiratory distress with surfactant metabolism deficiency relationship: Orphanet:317343 Orphanet:264675 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital pulmonary alveolar proteinosis relationship: Orphanet:317343 Orphanet:98852 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Desquamative interstitial pneumonia relationship: Orphanet:317345 Orphanet:2032 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic pulmonary fibrosis relationship: Orphanet:317345 Orphanet:70587 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Infant acute respiratory distress syndrome property_value: alternative:term "BRICD6" xsd:string property_value: alternative:term "BRICHOS domain containing 6" xsd:string property_value: alternative:term "PSP-C" xsd:string property_value: alternative:term "SFTP2" xsd:string property_value: alternative:term "SMDP2" xsd:string property_value: alternative:term "SP-C" xsd:string property_value: alternative:term "Surfactant, pulmonary-associated protein C" xsd:string property_value: symbol "SFTPC" xsd:string [Term] id: Orphanet:118647 name: sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) xref: ENSEMBL:ENSG00000108823 xref: GENATLAS:SGCA xref: HGNC:10805 xref: OMIM:600119 xref: UNIPROTKB/SWISSPROT:Q16586 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:62 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive limb-girdle muscular dystrophy type 2D property_value: alternative:term "50kD DAG" xsd:string property_value: alternative:term "A2" xsd:string property_value: alternative:term "adhalin" xsd:string property_value: alternative:term "adhalin (limb girdle muscular dystrophy 2D)" xsd:string property_value: alternative:term "ADL" xsd:string property_value: alternative:term "DMDA2" xsd:string property_value: alternative:term "LGMD2D" xsd:string property_value: alternative:term "sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)" xsd:string property_value: alternative:term "Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)" xsd:string property_value: alternative:term "SCARMD1" xsd:string property_value: symbol "SGCA" xsd:string [Term] id: Orphanet:118653 name: sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) xref: ENSEMBL:ENSG00000163069 xref: GENATLAS:SGCB xref: HGNC:10806 xref: OMIM:600900 xref: UNIPROTKB/SWISSPROT:Q16585 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:119 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive limb-girdle muscular dystrophy type 2E property_value: alternative:term "A3b" xsd:string property_value: alternative:term "LGMD2E" xsd:string property_value: alternative:term "sarcoglycan, beta (43kD dystrophin-associated glycoprotein)" xsd:string property_value: alternative:term "SGC" xsd:string property_value: symbol "SGCB" xsd:string [Term] id: Orphanet:118658 name: sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) xref: ENSEMBL:ENSG00000170624 xref: GENATLAS:SGCD xref: HGNC:10807 xref: OMIM:601411 xref: UNIPROTKB/SWISSPROT:Q92629 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317343 Orphanet:219 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive limb-girdle muscular dystrophy type 2F property_value: alternative:term "CMD1L" xsd:string property_value: alternative:term "DAGD" xsd:string property_value: alternative:term "LGMD2F" xsd:string property_value: alternative:term "sarcoglycan, delta (35kD dystrophin-associated glycoprotein)" xsd:string property_value: symbol "SGCD" xsd:string [Term] id: Orphanet:118663 name: sarcoglycan, epsilon xref: ENSEMBL:ENSG00000127990 xref: GENATLAS:SGCE xref: HGNC:10808 xref: OMIM:604149 xref: UNIPROTKB/SWISSPROT:O43556 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:36899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myoclonus-dystonia syndrome property_value: alternative:term "DYT11" xsd:string property_value: symbol "SGCE" xsd:string [Term] id: Orphanet:118666 name: sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) xref: ENSEMBL:ENSG00000102683 xref: GENATLAS:SGCG xref: HGNC:10809 xref: OMIM:608896 xref: UNIPROTKB/SWISSPROT:Q13326 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:353 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive limb-girdle muscular dystrophy type 2C property_value: alternative:term "35kD dystrophin-associated glycoprotein" xsd:string property_value: alternative:term "A4" xsd:string property_value: alternative:term "DAGA4" xsd:string property_value: alternative:term "DMDA" xsd:string property_value: alternative:term "DMDA1" xsd:string property_value: alternative:term "gamma sarcoglycan" xsd:string property_value: alternative:term "LGMD2C" xsd:string property_value: alternative:term "limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)" xsd:string property_value: alternative:term "Maghrebian myopathy (autosomal recessive)" xsd:string property_value: alternative:term "MAM" xsd:string property_value: alternative:term "MGC130048" xsd:string property_value: alternative:term "sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)" xsd:string property_value: alternative:term "SCARMD2" xsd:string property_value: alternative:term "SCG3" xsd:string property_value: alternative:term "TYPE" xsd:string property_value: symbol "SGCG" xsd:string [Term] id: Orphanet:118674 name: N-sulfoglucosamine sulfohydrolase xref: ENSEMBL:ENSG00000181523 xref: GENATLAS:SGSH xref: HGNC:10818 xref: OMIM:605270 xref: REACTOME:P51688 xref: UNIPROTKB/SWISSPROT:P51688 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79269 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sanfilippo syndrome type A property_value: alternative:term "HSS" xsd:string property_value: alternative:term "MPS3A" xsd:string property_value: alternative:term "mucopolysaccharidosis type IIIA" xsd:string property_value: alternative:term "N-sulfoglucosamine sulfohydrolase (sulfamidase)" xsd:string property_value: alternative:term "SFMD" xsd:string property_value: alternative:term "sulfamidase" xsd:string property_value: symbol "SGSH" xsd:string [Term] id: Orphanet:118679 name: SH2 domain containing 1A xref: ENSEMBL:ENSG00000183918 xref: GENATLAS:SH2D1A xref: HGNC:10820 xref: OMIM:300490 xref: UNIPROTKB/SWISSPROT:O60880 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2442 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked lymphoproliferative disease property_value: alternative:term "DSHP" xsd:string property_value: alternative:term "Duncan's disease" xsd:string property_value: alternative:term "EBVS" xsd:string property_value: alternative:term "IMD5" xsd:string property_value: alternative:term "lymphoproliferative syndrome" xsd:string property_value: alternative:term "LYP" xsd:string property_value: alternative:term "MTCP1" xsd:string property_value: alternative:term "SAP" xsd:string property_value: alternative:term "SH2 domain protein 1A" xsd:string property_value: alternative:term "SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome)" xsd:string property_value: alternative:term "XLP" xsd:string property_value: alternative:term "XLPD" xsd:string property_value: symbol "SH2D1A" xsd:string [Term] id: Orphanet:118689 name: SH3-domain binding protein 2 xref: ENSEMBL:ENSG00000087266 xref: GENATLAS:SH3BP2 xref: HGNC:10825 xref: OMIM:602104 xref: UNIPROTKB/SWISSPROT:P78314 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:184 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cherubism property_value: alternative:term "Cherubism" xsd:string property_value: alternative:term "CRBM" xsd:string property_value: alternative:term "RES4-23" xsd:string property_value: symbol "SH3BP2" xsd:string [Term] id: Orphanet:118693 name: SH3 domain and tetratricopeptide repeats 2 xref: ENSEMBL:ENSG00000169247 xref: GENATLAS:SH3TC2 xref: HGNC:29427 xref: OMIM:608206 xref: UNIPROTKB/SWISSPROT:Q8TF17 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99949 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Charcot-Marie-Tooth disease type 4C property_value: alternative:term "CMT4C" xsd:string property_value: alternative:term "KIAA1985" xsd:string property_value: symbol "SH3TC2" xsd:string [Term] id: Orphanet:118697 name: SH3 and multiple ankyrin repeat domains 3 xref: ENSEMBL:ENSG00000251322 xref: GENATLAS:SHANK3 xref: HGNC:14294 xref: OMIM:606230 xref: UNIPROTKB/SWISSPROT:Q9BYB0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:48652 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Monosomy 22q13 property_value: alternative:term "KIAA1650" xsd:string property_value: alternative:term "proline rich synapse associated protein 2" xsd:string property_value: alternative:term "prosap2" xsd:string property_value: alternative:term "PSAP2" xsd:string property_value: alternative:term "shank postsynaptic density protein" xsd:string property_value: alternative:term "SPANK-2" xsd:string property_value: symbol "SHANK3" xsd:string [Term] id: Orphanet:1187 name: Lethal ataxia with deafness and optic atrophy xref: ICD10:E79.8 xref: OMIM:301835 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:247765 ! X-linked cerebellar ataxia relationship: part_of Orphanet:79191 ! Disorder of purine metabolism relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Arts syndrome" xsd:string [Term] id: Orphanet:118703 name: sonic hedgehog xref: ENSEMBL:ENSG00000164690 xref: GENATLAS:SHH xref: HGNC:10848 xref: OMIM:600725 xref: REACTOME:Q15465 xref: UNIPROTKB/SWISSPROT:Q15465 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220386 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Semilobar holoprosencephaly relationship: Orphanet:317343 Orphanet:2286 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Solitary median maxillary central incisor syndrome relationship: Orphanet:317343 Orphanet:280195 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Septopreoptic holoprosencephaly relationship: Orphanet:317343 Orphanet:280200 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microform holoprosencephaly relationship: Orphanet:317343 Orphanet:2950 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Triphalangeal thumb - polysyndactyly syndrome relationship: Orphanet:317343 Orphanet:295069 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Radial hemimelia, unilateral relationship: Orphanet:317343 Orphanet:295071 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Radial hemimelia, bilateral relationship: Orphanet:317343 Orphanet:295148 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Polydactyly of a triphalangeal thumb, unilateral relationship: Orphanet:317343 Orphanet:295150 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Polydactyly of a triphalangeal thumb, bilateral relationship: Orphanet:317343 Orphanet:3332 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypoplastic tibiae - postaxial polydactyly relationship: Orphanet:317343 Orphanet:93405 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Syndactyly type 4 relationship: Orphanet:317343 Orphanet:93924 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93925 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93926 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Midline interhemispheric variant of holoprosencephaly relationship: Orphanet:317343 Orphanet:98938 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Colobomatous microphthalmia relationship: Orphanet:317345 Orphanet:799 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Schizencephaly property_value: alternative:term "HHG1" xsd:string property_value: alternative:term "HLP3" xsd:string property_value: alternative:term "HPE3" xsd:string property_value: alternative:term "MCOPCB5" xsd:string property_value: alternative:term "SMMCI" xsd:string property_value: alternative:term "sonic hedgehog (Drosophila) homolog" xsd:string property_value: alternative:term "Sonic hedgehog homolog (Drosophila)" xsd:string property_value: alternative:term "TPT" xsd:string property_value: alternative:term "TPTPS" xsd:string property_value: symbol "SHH" xsd:string [Term] id: Orphanet:118707 name: short stature homeobox xref: ENSEMBL:ENSG00000185960 xref: GENATLAS:SHOX xref: HGNC:10853 xref: OMIM:312865 xref: UNIPROTKB/SWISSPROT:O15266 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:240 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Léri-Weill dyschondrosteosis relationship: Orphanet:317343 Orphanet:2632 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Langer mesomelic dysplasia relationship: Orphanet:317343 Orphanet:314795 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Shox-related short stature property_value: alternative:term "GCFX" xsd:string property_value: alternative:term "PHOG" xsd:string property_value: alternative:term "SHOXY" xsd:string property_value: alternative:term "SS" xsd:string property_value: symbol "SHOX" xsd:string [Term] id: Orphanet:118713 name: shroom family member 4 xref: ENSEMBL:ENSG00000158352 xref: GENATLAS:SHROOM4 xref: HGNC:29215 xref: OMIM:300579 xref: UNIPROTKB/SWISSPROT:Q9ULL8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:85288 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intellectual deficit, X-linked, Stocco Dos Santos type property_value: alternative:term "KIAA1202" xsd:string property_value: symbol "SHROOM4" xsd:string [Term] id: Orphanet:118716 name: sucrase-isomaltase (alpha-glucosidase) xref: ENSEMBL:ENSG00000090402 xref: GENATLAS:SI xref: HGNC:10856 xref: OMIM:609845 xref: REACTOME:P14410 xref: UNIPROTKB/SWISSPROT:P14410 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:306436 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital sucrase-isomaltase deficiency with starch intolerance relationship: Orphanet:317343 Orphanet:306446 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital sucrase-isomaltase deficiency with minimal starch tolerance relationship: Orphanet:317343 Orphanet:306462 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital sucrase-isomaltase deficiency without starch intolerance relationship: Orphanet:317343 Orphanet:306474 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital sucrase-isomaltase deficiency with starch and lactose intolerance relationship: Orphanet:317343 Orphanet:306486 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital sucrase-isomaltase deficiency without sucrose intolerance property_value: alternative:term "Oligosaccharide alpha-1,6-glucosidase" xsd:string property_value: alternative:term "sucrase-isomaltase" xsd:string property_value: symbol "SI" xsd:string [Term] id: Orphanet:118718 name: SIL1 nucleotide exchange factor xref: ENSEMBL:ENSG00000120725 xref: GENATLAS:SIL1 xref: HGNC:24624 xref: OMIM:608005 xref: UNIPROTKB/SWISSPROT:Q9H173 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:559 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Marinesco-Sjögren syndrome property_value: alternative:term "BAP" xsd:string property_value: alternative:term "Marinesco-Sjogren syndrome" xsd:string property_value: alternative:term "MSS" xsd:string property_value: alternative:term "SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)" xsd:string property_value: alternative:term "ULG5" xsd:string property_value: symbol "SIL1" xsd:string [Term] id: Orphanet:118723 name: SIX homeobox 1 xref: ENSEMBL:ENSG00000126778 xref: GENATLAS:SIX1 xref: HGNC:10887 xref: OMIM:601205 xref: UNIPROTKB/SWISSPROT:Q15475 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:107 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! BOR syndrome relationship: Orphanet:317343 Orphanet:52429 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Branchio-otic syndrome relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA property_value: alternative:term "deafness, autosomal dominant 23" xsd:string property_value: alternative:term "DFNA23" xsd:string property_value: alternative:term "sine oculis homeobox (Drosophila) homolog 1" xsd:string property_value: alternative:term "sine oculis homeobox homolog 1 (Drosophila)" xsd:string property_value: symbol "SIX1" xsd:string [Term] id: Orphanet:118725 name: SIX homeobox 3 xref: ENSEMBL:ENSG00000138083 xref: GENATLAS:SIX3 xref: HGNC:10889 xref: OMIM:603714 xref: UNIPROTKB/SWISSPROT:O95343 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220386 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Semilobar holoprosencephaly relationship: Orphanet:317343 Orphanet:280195 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Septopreoptic holoprosencephaly relationship: Orphanet:317343 Orphanet:280200 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microform holoprosencephaly relationship: Orphanet:317343 Orphanet:93924 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93925 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93926 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Midline interhemispheric variant of holoprosencephaly relationship: Orphanet:317345 Orphanet:799 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Schizencephaly property_value: alternative:term "holoprosencephaly 2, alobar or semilobar" xsd:string property_value: alternative:term "HPE2" xsd:string property_value: alternative:term "sine oculis homeobox homolog 3 (Drosophila)" xsd:string property_value: symbol "SIX3" xsd:string [Term] id: Orphanet:118728 name: SIX homeobox 6 xref: ENSEMBL:ENSG00000184302 xref: GENATLAS:SIX6 xref: HGNC:10892 xref: OMIM:606326 xref: UNIPROTKB/SWISSPROT:O95475 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2543 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microphthalmia - cataract relationship: Orphanet:317349 Orphanet:264200 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 14q22q23 microdeletion syndrome property_value: alternative:term "OPTX2" xsd:string property_value: alternative:term "sine oculis homeobox (Drosophila) homolog 6" xsd:string property_value: alternative:term "sine oculis homeobox homolog 6 (Drosophila)" xsd:string property_value: alternative:term "Six9" xsd:string property_value: symbol "SIX6" xsd:string [Term] id: Orphanet:118732 name: solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 xref: ENSEMBL:ENSG00000110911 xref: GENATLAS:SLC11A2 xref: HGNC:10908 xref: OMIM:600523 xref: REACTOME:P49281 xref: UNIPROTKB/SWISSPROT:P49281 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:83642 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microcytic anemia with liver iron overload property_value: alternative:term "DCT1" xsd:string property_value: alternative:term "DMT1" xsd:string property_value: alternative:term "NRAMP2" xsd:string property_value: alternative:term "Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2" xsd:string property_value: symbol "SLC11A2" xsd:string [Term] id: Orphanet:118737 name: solute carrier family 12 (sodium/potassium/chloride transporter), member 1 xref: ENSEMBL:ENSG00000074803 xref: GENATLAS:SLC12A1 xref: HGNC:10910 xref: IUPHAR:968 xref: OMIM:600839 xref: REACTOME:Q13621 xref: UNIPROTKB/SWISSPROT:Q13621 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93604 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Antenatal Bartter syndrome property_value: alternative:term "NKCC2" xsd:string property_value: alternative:term "Solute carrier family 12 (sodium/potassium/chloride transporters), member 1" xsd:string property_value: symbol "SLC12A1" xsd:string [Term] id: Orphanet:118740 name: solute carrier family 12 (sodium/chloride transporter), member 3 xref: ENSEMBL:ENSG00000070915 xref: GENATLAS:SLC12A3 xref: HGNC:10912 xref: IUPHAR:970 xref: OMIM:600968 xref: REACTOME:P55017 xref: UNIPROTKB/SWISSPROT:P55017 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:358 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gitelman syndrome property_value: alternative:term "NCCT" xsd:string property_value: alternative:term "Solute carrier family 12 (sodium/chloride transporters), member 3" xsd:string property_value: symbol "SLC12A3" xsd:string [Term] id: Orphanet:118742 name: solute carrier family 12 (potassium/chloride transporter), member 6 xref: ENSEMBL:ENSG00000140199 xref: GENATLAS:SLC12A6 xref: HGNC:10914 xref: OMIM:604878 xref: REACTOME:Q9UHW9 xref: UNIPROTKB/SWISSPROT:Q9UHW9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1496 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Corpus callosum agenesis - neuronopathy property_value: alternative:term "ACCPN" xsd:string property_value: alternative:term "agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)" xsd:string property_value: alternative:term "KCC3" xsd:string property_value: alternative:term "Solute carrier family 12 (potassium/chloride transporters), member 6" xsd:string property_value: symbol "SLC12A6" xsd:string [Term] id: Orphanet:118746 name: solute carrier family 16, member 2 (thyroid hormone transporter) xref: ENSEMBL:ENSG00000147100 xref: GENATLAS:SLC16A2 xref: HGNC:10923 xref: OMIM:300095 xref: UNIPROTKB/SWISSPROT:P36021 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:59 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Allan-Herndon-Dudley syndrome property_value: alternative:term "AHDS" xsd:string property_value: alternative:term "Allan-Herndon-Dudley syndrome" xsd:string property_value: alternative:term "DXS128" xsd:string property_value: alternative:term "MCT7" xsd:string property_value: alternative:term "MCT8" xsd:string property_value: alternative:term "mental retardation, X-linked 22" xsd:string property_value: alternative:term "MRX22" xsd:string property_value: alternative:term "solute carrier family 16 (monocarboxylic acid transporters), member 2" xsd:string property_value: alternative:term "solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)" xsd:string property_value: alternative:term "Solute carrier family 16, member 2 (monocarboxylic acid transporter 8)" xsd:string property_value: alternative:term "XPCT" xsd:string property_value: symbol "SLC16A2" xsd:string [Term] id: Orphanet:118753 name: solute carrier family 17 (acidic sugar transporter), member 5 xref: ENSEMBL:ENSG00000119899 xref: GENATLAS:SLC17A5 xref: HGNC:10933 xref: OMIM:604322 xref: REACTOME:Q9NRA2 xref: UNIPROTKB/SWISSPROT:Q9NRA2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:309324 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Free sialic acid storage disease, infantile form relationship: Orphanet:317343 Orphanet:309331 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intermediate severe Salla disease relationship: Orphanet:317343 Orphanet:309334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Salla disease property_value: alternative:term "AST" xsd:string property_value: alternative:term "ISSD" xsd:string property_value: alternative:term "NSD" xsd:string property_value: alternative:term "SD" xsd:string property_value: alternative:term "sialic acid storage disease" xsd:string property_value: alternative:term "SIALIN" xsd:string property_value: alternative:term "SIASD" xsd:string property_value: alternative:term "SLD" xsd:string property_value: alternative:term "Solute carrier family 17 (anion/sugar transporter), member 5" xsd:string property_value: symbol "SLC17A5" xsd:string [Term] id: Orphanet:118762 name: solute carrier family 19 (thiamine transporter), member 2 xref: ENSEMBL:ENSG00000117479 xref: GENATLAS:SLC19A2 xref: HGNC:10938 xref: OMIM:603941 xref: REACTOME:O60779 xref: UNIPROTKB/SWISSPROT:O60779 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:49827 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thiamine-responsive megaloblastic anemia syndrome property_value: alternative:term "THTR1" xsd:string property_value: alternative:term "TRMA" xsd:string property_value: symbol "SLC19A2" xsd:string [Term] id: Orphanet:118766 name: solute carrier family 19 (thiamine transporter), member 3 xref: ENSEMBL:ENSG00000135917 xref: GENATLAS:SLC19A3 xref: HGNC:16266 xref: OMIM:606152 xref: REACTOME:Q9BZV2 xref: UNIPROTKB/SWISSPROT:Q9BZV2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:199348 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thiamine-responsive encephalopathy relationship: Orphanet:317343 Orphanet:255241 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with leukodystrophy relationship: Orphanet:317343 Orphanet:263410 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease relationship: Orphanet:317343 Orphanet:65284 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Biotin-responsive basal ganglia disease property_value: alternative:term "Solute carrier family 19, member 3" xsd:string property_value: alternative:term "thiamine transporter 2" xsd:string property_value: alternative:term "THTR2" xsd:string property_value: symbol "SLC19A3" xsd:string [Term] id: Orphanet:118781 name: solute carrier family 22 (organic cation/carnitine transporter), member 5 xref: ENSEMBL:ENSG00000197375 xref: GENATLAS:SLC22A5 xref: HGNC:10969 xref: OMIM:603377 xref: REACTOME:O76082 xref: UNIPROTKB/SWISSPROT:O76082 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:158 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Carnitine uptake deficiency property_value: alternative:term "CDSP" xsd:string property_value: alternative:term "OCTN2" xsd:string property_value: alternative:term "SCD" xsd:string property_value: alternative:term "Solute carrier family 22 (organic cation transporter), member 5" xsd:string property_value: symbol "SLC22A5" xsd:string [Term] id: Orphanet:118786 name: solute carrier family 25 (aspartate/glutamate carrier), member 13 xref: ENSEMBL:ENSG00000004864 xref: GENATLAS:SLC25A13 xref: HGNC:10983 xref: OMIM:603859 xref: REACTOME:Q9UJS0 xref: UNIPROTKB/SWISSPROT:Q9UJS0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:247585 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Citrullinemia type II relationship: Orphanet:317343 Orphanet:247598 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal intrahepatic cholestasis due to citrin deficiency property_value: alternative:term "ARALAR2" xsd:string property_value: alternative:term "CITRIN" xsd:string property_value: alternative:term "CTLN2" xsd:string property_value: alternative:term "mitochondrial aspartate glutamate carrier 2" xsd:string property_value: alternative:term "Solute carrier family 25, member 13 (citrin)" xsd:string property_value: symbol "SLC25A13" xsd:string [Term] id: Orphanet:118789 name: solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 xref: ENSEMBL:ENSG00000102743 xref: GENATLAS:SLC25A15 xref: HGNC:10985 xref: OMIM:603861 xref: REACTOME:Q9Y619 xref: UNIPROTKB/SWISSPROT:Q9Y619 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:415 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperornithinemia-hyperammonemia-homocitrullinuria property_value: alternative:term "'Solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15'" xsd:string property_value: alternative:term "D13S327" xsd:string property_value: alternative:term "HHH" xsd:string property_value: alternative:term "ORC1" xsd:string property_value: alternative:term "ornithine transporter 1" xsd:string property_value: alternative:term "ORNT1" xsd:string property_value: symbol "SLC25A15" xsd:string [Term] id: Orphanet:118794 name: solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 xref: ENSEMBL:ENSG00000125454 xref: GENATLAS:SLC25A19 xref: HGNC:14409 xref: OMIM:606521 xref: UNIPROTKB/SWISSPROT:Q9HC21 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:217396 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive demyelinating neuropathy with bilateral striatal necrosis relationship: Orphanet:317343 Orphanet:99742 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amish lethal microcephaly property_value: alternative:term "DNC" xsd:string property_value: alternative:term "MCPHA" xsd:string property_value: alternative:term "microcephaly, Amish" xsd:string property_value: alternative:term "MUP1" xsd:string property_value: alternative:term "solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19" xsd:string property_value: alternative:term "TPC" xsd:string property_value: symbol "SLC25A19" xsd:string [Term] id: Orphanet:118799 name: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 xref: ENSEMBL:ENSG00000178537 xref: GENATLAS:SLC25A20 xref: HGNC:1421 xref: OMIM:613698 xref: REACTOME:O43772 xref: UNIPROTKB/SWISSPROT:O43772 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:159 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Carnitine-acylcarnitine translocase deficiency property_value: alternative:term "CAC" xsd:string property_value: alternative:term "CACT" xsd:string property_value: alternative:term "carnitine-acylcarnitine carrier" xsd:string property_value: alternative:term "carnitine/acylcarnitine translocase" xsd:string property_value: symbol "SLC25A20" xsd:string [Term] id: Orphanet:1188 name: Ataxia-deafness-retardation syndrome xref: OMIM:208850 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:247765 ! X-linked cerebellar ataxia relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Reardon-Baraitser syndrome" xsd:string [Term] id: Orphanet:118803 name: solute carrier family 25 (mitochondrial carrier: glutamate), member 22 xref: ENSEMBL:ENSG00000177542 xref: GENATLAS:SLC25A22 xref: HGNC:19954 xref: OMIM:609302 xref: UNIPROTKB/SWISSPROT:Q9H936 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1934 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early infantile epileptic encephalopathy relationship: Orphanet:317343 Orphanet:1935 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early myoclonic encephalopathy property_value: alternative:term "EIEE3" xsd:string property_value: alternative:term "FLJ13044" xsd:string property_value: alternative:term "GC1" xsd:string property_value: alternative:term "NET44" xsd:string property_value: symbol "SLC25A22" xsd:string [Term] id: Orphanet:118807 name: solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 xref: ENSEMBL:ENSG00000151729 xref: GENATLAS:SLC25A4 xref: HGNC:10990 xref: OMIM:103220 xref: REACTOME:P12235 xref: UNIPROTKB/SWISSPROT:P12235 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1369 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy relationship: Orphanet:317343 Orphanet:254892 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant progressive external ophthalmoplegia property_value: alternative:term "ANT1" xsd:string property_value: alternative:term "PEO2" xsd:string property_value: alternative:term "PEO3" xsd:string property_value: alternative:term "T1" xsd:string property_value: symbol "SLC25A4" xsd:string [Term] id: Orphanet:118813 name: solute carrier family 26 (anion exchanger), member 2 xref: ENSEMBL:ENSG00000155850 xref: GENATLAS:SLC26A2 xref: HGNC:10994 xref: OMIM:606718 xref: REACTOME:P50443 xref: UNIPROTKB/SWISSPROT:P50443 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:56304 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atelosteogenesis type II relationship: Orphanet:317343 Orphanet:628 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Diastrophic dwarfism relationship: Orphanet:317343 Orphanet:93298 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Achondrogenesis type 1B relationship: Orphanet:317343 Orphanet:93307 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple epiphyseal dysplasia type 4 property_value: alternative:term "DTD" xsd:string property_value: alternative:term "DTDST" xsd:string property_value: alternative:term "Solute carrier family 26 (sulfate transporter), member 2" xsd:string property_value: symbol "SLC26A2" xsd:string [Term] id: Orphanet:118817 name: solute carrier family 26 (anion exchanger), member 3 xref: ENSEMBL:ENSG00000091138 xref: GENATLAS:SLC26A3 xref: HGNC:3018 xref: OMIM:126650 xref: REACTOME:P40879 xref: UNIPROTKB/SWISSPROT:P40879 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:53689 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital chloride diarrhea property_value: alternative:term "CLD" xsd:string property_value: alternative:term "congenital chloride diarrhea" xsd:string property_value: alternative:term "DRA" xsd:string property_value: alternative:term "Solute carrier family 26, member 3" xsd:string property_value: symbol "SLC26A3" xsd:string [Term] id: Orphanet:118821 name: solute carrier family 26 (anion exchanger), member 4 xref: ENSEMBL:ENSG00000091137 xref: GENATLAS:SLC26A4 xref: HGNC:8818 xref: OMIM:605646 xref: REACTOME:O43511 xref: UNIPROTKB/SWISSPROT:O43511 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:705 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pendred syndrome relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "DFNB4" xsd:string property_value: alternative:term "PDS" xsd:string property_value: alternative:term "pendrin" xsd:string property_value: alternative:term "Solute carrier family 26, member 4" xsd:string property_value: symbol "SLC26A4" xsd:string [Term] id: Orphanet:118825 name: solute carrier family 2 (facilitated glucose transporter), member 10 xref: ENSEMBL:ENSG00000197496 xref: GENATLAS:SLC2A10 xref: HGNC:13444 xref: OMIM:606145 xref: REACTOME:O95528 xref: UNIPROTKB/SWISSPROT:O95528 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3342 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Arterial tortuosity syndrome property_value: alternative:term "GLUT10" xsd:string property_value: symbol "SLC2A10" xsd:string [Term] id: Orphanet:118828 name: solute carrier family 2 (facilitated glucose transporter), member 2 xref: ENSEMBL:ENSG00000163581 xref: GENATLAS:SLC2A2 xref: HGNC:11006 xref: OMIM:138160 xref: REACTOME:P11168 xref: UNIPROTKB/SWISSPROT:P11168 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2088 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to GLUT2 deficiency property_value: alternative:term "GLUT2" xsd:string property_value: symbol "SLC2A2" xsd:string [Term] id: Orphanet:118831 name: solute carrier family 34 (type II sodium/phosphate contransporter), member 2 xref: ENSEMBL:ENSG00000157765 xref: GENATLAS:SLC34A2 xref: HGNC:11020 xref: OMIM:604217 xref: REACTOME:O95436 xref: UNIPROTKB/SWISSPROT:O95436 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:60025 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pulmonary alveolar microlithiasis property_value: alternative:term "NAPI-3B" xsd:string property_value: alternative:term "Solute carrier family 34 (sodium phosphate), member 2" xsd:string property_value: symbol "SLC34A2" xsd:string [Term] id: Orphanet:118834 name: solute carrier family 34 (type II sodium/phosphate contransporter), member 3 xref: ENSEMBL:ENSG00000198569 xref: GENATLAS:SLC34A3 xref: HGNC:20305 xref: OMIM:609826 xref: REACTOME:Q8N130 xref: UNIPROTKB/SWISSPROT:Q8N130 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:157215 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary hypophosphatemic rickets with hypercalciuria property_value: alternative:term "FLJ38680" xsd:string property_value: alternative:term "NPTIIc" xsd:string property_value: alternative:term "Solute carrier family 34 (sodium phosphate), member 3" xsd:string property_value: symbol "SLC34A3" xsd:string [Term] id: Orphanet:118838 name: solute carrier family 35 (GDP-fucose transporter), member C1 xref: ENSEMBL:ENSG00000181830 xref: GENATLAS:SLC35C1 xref: HGNC:20197 xref: OMIM:605881 xref: REACTOME:Q96A29 xref: UNIPROTKB/SWISSPROT:Q96A29 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99843 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leukocyte adhesion deficiency type II property_value: alternative:term "FLJ11320" xsd:string property_value: alternative:term "FUCT1" xsd:string property_value: alternative:term "Solute carrier family 35, member C1" xsd:string property_value: symbol "SLC35C1" xsd:string [Term] id: Orphanet:118840 name: ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 xref: ENSEMBL:ENSG00000196296 xref: GENATLAS:ATP2A1 xref: HGNC:811 xref: OMIM:108730 xref: REACTOME:O14983 xref: UNIPROTKB/SWISSPROT:O14983 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:53347 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brody myopathy property_value: alternative:term "ATP2A" xsd:string property_value: alternative:term "calcium pump 1" xsd:string property_value: alternative:term "sarcoplasmic/endoplasmic reticulum calcium ATPase 1" xsd:string property_value: alternative:term "SERCA1" xsd:string property_value: symbol "ATP2A1" xsd:string [Term] id: Orphanet:118844 name: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 xref: ENSEMBL:ENSG00000174437 xref: GENATLAS:ATP2A2 xref: HGNC:812 xref: OMIM:108740 xref: REACTOME:P16615 xref: UNIPROTKB/SWISSPROT:P16615 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:218 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Darier disease relationship: Orphanet:317343 Orphanet:79151 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acrokeratosis verruciformis of Hopf property_value: alternative:term "ATP2B" xsd:string property_value: alternative:term "calcium pump 2" xsd:string property_value: alternative:term "DAR" xsd:string property_value: alternative:term "sarcoplasmic/endoplasmic reticulum calcium ATPase 2" xsd:string property_value: alternative:term "SERCA2" xsd:string property_value: symbol "ATP2A2" xsd:string [Term] id: Orphanet:118849 name: ATPase, Ca++ transporting, type 2C, member 1 xref: ENSEMBL:ENSG00000017260 xref: GENATLAS:ATP2C1 xref: HGNC:13211 xref: OMIM:604384 xref: REACTOME:P98194 xref: UNIPROTKB/SWISSPROT:P98194 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2841 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial benign chronic pemphigus property_value: alternative:term "ATP2C1A" xsd:string property_value: alternative:term "BCPM" xsd:string property_value: alternative:term "benign chronic pemphigus (Hailey-Hailey disease)" xsd:string property_value: alternative:term "calcium-transporting ATPase type 2C member 1" xsd:string property_value: alternative:term "KIAA1347" xsd:string property_value: alternative:term "PMR1" xsd:string property_value: alternative:term "secretory pathway Ca2+/Mn2+ ATPase 1" xsd:string property_value: alternative:term "SPCA1" xsd:string property_value: symbol "ATP2C1" xsd:string [Term] id: Orphanet:118855 name: ATPase, H+ transporting, lysosomal accessory protein 2 xref: ENSEMBL:ENSG00000182220 xref: GENATLAS:ATP6AP2 xref: HGNC:18305 xref: OMIM:300556 xref: REACTOME:O75787 xref: UNIPROTKB/SWISSPROT:O75787 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363654 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked parkinsonism-spasticity syndrome relationship: Orphanet:317343 Orphanet:93952 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked intellectual disability, Hedera type property_value: alternative:term "APT6M8-9" xsd:string property_value: alternative:term "ATP6IP2" xsd:string property_value: alternative:term "ATP6M8-9" xsd:string property_value: alternative:term "ATPase, H+ transporting, lysosomal interacting protein 2" xsd:string property_value: alternative:term "M8-9" xsd:string property_value: symbol "ATP6AP2" xsd:string [Term] id: Orphanet:118861 name: ATPase, H+ transporting, lysosomal V0 subunit a4 xref: ENSEMBL:ENSG00000105929 xref: GENATLAS:ATP6V0A4 xref: HGNC:866 xref: OMIM:605239 xref: REACTOME:Q9HBG4 xref: UNIPROTKB/SWISSPROT:Q9HBG4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive distal renal tubular acidosis without deafness property_value: alternative:term "a4" xsd:string property_value: alternative:term "ATP6N1B" xsd:string property_value: alternative:term "ATP6N2" xsd:string property_value: alternative:term "ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B" xsd:string property_value: alternative:term "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4" xsd:string property_value: alternative:term "ATPase, H+ transporting, lysosomal V0 subunit A4" xsd:string property_value: alternative:term "RDRTA2" xsd:string property_value: alternative:term "RTA1C" xsd:string property_value: alternative:term "RTADR" xsd:string property_value: alternative:term "Stv1" xsd:string property_value: alternative:term "Vph1" xsd:string property_value: alternative:term "VPP2" xsd:string property_value: symbol "ATP6V0A4" xsd:string [Term] id: Orphanet:118872 name: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 xref: ENSEMBL:ENSG00000116039 xref: GENATLAS:ATP6V1B1 xref: HGNC:853 xref: OMIM:192132 xref: REACTOME:P15313 xref: UNIPROTKB/SWISSPROT:P15313 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93611 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive distal renal tubular acidosis with deafness property_value: alternative:term "ATP6B1" xsd:string property_value: alternative:term "ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (Renal tubular acidosis with deafness)" xsd:string property_value: alternative:term "Renal tubular acidosis with deafness" xsd:string property_value: alternative:term "RTA1B" xsd:string property_value: alternative:term "vacuolar proton pump 3" xsd:string property_value: alternative:term "VATB" xsd:string property_value: alternative:term "Vma2" xsd:string property_value: alternative:term "VPP3" xsd:string property_value: symbol "ATP6V1B1" xsd:string [Term] id: Orphanet:118879 name: ATPase, Cu++ transporting, alpha polypeptide xref: ENSEMBL:ENSG00000165240 xref: GENATLAS:ATP7A xref: HGNC:869 xref: OMIM:300011 xref: REACTOME:Q04656 xref: UNIPROTKB/SWISSPROT:Q04656 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:139557 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked distal spinal muscular atrophy relationship: Orphanet:317343 Orphanet:198 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Occipital horn syndrome relationship: Orphanet:317343 Orphanet:565 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Menkes disease property_value: alternative:term "ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome)" xsd:string property_value: alternative:term "copper pump 1" xsd:string property_value: alternative:term "copper-transporting ATPase 1" xsd:string property_value: alternative:term "Menkes syndrome" xsd:string property_value: alternative:term "MNK" xsd:string property_value: symbol "ATP7A" xsd:string [Term] id: Orphanet:118882 name: ATPase, Cu++ transporting, beta polypeptide xref: ENSEMBL:ENSG00000123191 xref: GENATLAS:ATP7B xref: HGNC:870 xref: OMIM:606882 xref: REACTOME:P35670 xref: UNIPROTKB/SWISSPROT:P35670 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:905 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Wilson disease property_value: alternative:term "ATPase, Cu++ transporting, beta polypeptide (Wilson disease)" xsd:string property_value: alternative:term "copper pump 2" xsd:string property_value: alternative:term "copper-transporting ATPase 2" xsd:string property_value: alternative:term "Wilson disease" xsd:string property_value: alternative:term "WND" xsd:string property_value: symbol "ATP7B" xsd:string [Term] id: Orphanet:118885 name: ATPase, aminophospholipid transporter, class I, type 8B, member 1 xref: ENSEMBL:ENSG00000081923 xref: GENATLAS:ATP8B1 xref: HGNC:3706 xref: OMIM:602397 xref: REACTOME:O43520 xref: UNIPROTKB/SWISSPROT:O43520 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79306 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive familial intrahepatic cholestasis type 1 relationship: Orphanet:317343 Orphanet:99960 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Benign recurrent intrahepatic cholestasis type 1 relationship: Orphanet:317345 Orphanet:69665 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intrahepatic cholestasis of pregnancy property_value: alternative:term "ATPase, Class I, type 8B, member 1" xsd:string property_value: alternative:term "ATPIC" xsd:string property_value: alternative:term "BRIC" xsd:string property_value: alternative:term "FIC1" xsd:string property_value: alternative:term "PFIC" xsd:string property_value: alternative:term "PFIC1" xsd:string property_value: symbol "ATP8B1" xsd:string [Term] id: Orphanet:118892 name: ATP synthase mitochondrial F1 complex assembly factor 2 xref: ENSEMBL:ENSG00000171953 xref: GENATLAS:ATPAF2 xref: HGNC:18802 xref: OMIM:608918 xref: UNIPROTKB/SWISSPROT:Q8N5M1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:254913 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Isolated ATP synthase deficiency property_value: alternative:term "ATP12" xsd:string property_value: alternative:term "Atp12p" xsd:string property_value: alternative:term "LP3663" xsd:string property_value: alternative:term "MGC29736" xsd:string property_value: symbol "ATPAF2" xsd:string [Term] id: Orphanet:118896 name: ataxia telangiectasia and Rad3 related xref: ENSEMBL:ENSG00000175054 xref: GENATLAS:ATR xref: HGNC:882 xref: IUPHAR:1935 xref: OMIM:601215 xref: REACTOME:Q13535 xref: UNIPROTKB/SWISSPROT:Q13535 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:313846 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome relationship: Orphanet:317343 Orphanet:808 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Seckel syndrome property_value: alternative:term "FRP1" xsd:string property_value: alternative:term "MEC1" xsd:string property_value: alternative:term "MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)" xsd:string property_value: alternative:term "SCKL" xsd:string property_value: alternative:term "SCKL1" xsd:string property_value: symbol "ATR" xsd:string [Term] id: Orphanet:118908 name: alpha thalassemia/mental retardation syndrome X-linked xref: ENSEMBL:ENSG00000085224 xref: GENATLAS:ATRX xref: HGNC:886 xref: OMIM:300032 xref: UNIPROTKB/SWISSPROT:P46100 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:847 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alpha-thalassemia - X-linked intellectual deficit syndrome relationship: Orphanet:317343 Orphanet:93970 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Holmes-Gang syndrome relationship: Orphanet:317343 Orphanet:93971 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chudley-Lowry-Hoar syndrome relationship: Orphanet:317343 Orphanet:93972 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juberg-Marsidi syndrome relationship: Orphanet:317343 Orphanet:93973 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Carpenter-Waziri syndrome relationship: Orphanet:317343 Orphanet:93974 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Smith-Fineman-Myers syndrome relationship: Orphanet:317344 Orphanet:231401 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alpha-thalassemia - myelodysplastic syndrome property_value: alternative:term "alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)" xsd:string property_value: alternative:term "Alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)" xsd:string property_value: alternative:term "JMS" xsd:string property_value: alternative:term "Juberg-Marsidi syndrome" xsd:string property_value: alternative:term "RAD54" xsd:string property_value: alternative:term "RAD54 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "XH2" xsd:string property_value: alternative:term "XNP" xsd:string property_value: symbol "ATRX" xsd:string [Term] id: Orphanet:118913 name: ataxin 1 xref: ENSEMBL:ENSG00000124788 xref: GENATLAS:ATXN1 xref: HGNC:10548 xref: OMIM:601556 xref: UNIPROTKB/SWISSPROT:P54253 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98755 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 1 property_value: alternative:term "ATX1" xsd:string property_value: alternative:term "D6S504E" xsd:string property_value: alternative:term "SCA1" xsd:string property_value: alternative:term "spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)" xsd:string property_value: symbol "ATXN1" xsd:string [Term] id: Orphanet:118918 name: ataxin 10 xref: ENSEMBL:ENSG00000130638 xref: GENATLAS:ATXN10 xref: HGNC:10549 xref: OMIM:611150 xref: UNIPROTKB/SWISSPROT:Q9UBB4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220497 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with renal defect relationship: Orphanet:317343 Orphanet:98761 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 10 property_value: alternative:term "E46L" xsd:string property_value: alternative:term "FLJ37990" xsd:string property_value: alternative:term "SCA10" xsd:string property_value: alternative:term "spinocerebellar ataxia 10" xsd:string property_value: symbol "ATXN10" xsd:string [Term] id: Orphanet:118923 name: ataxin 2 xref: ENSEMBL:ENSG00000204842 xref: GENATLAS:ATXN2 xref: HGNC:10555 xref: OMIM:601517 xref: UNIPROTKB/SWISSPROT:Q99700 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98756 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 2 relationship: Orphanet:317345 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis property_value: alternative:term "ATX2" xsd:string property_value: alternative:term "SCA2" xsd:string property_value: alternative:term "spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)" xsd:string property_value: alternative:term "TNRC13" xsd:string property_value: alternative:term "trinucleotide repeat containing 13" xsd:string property_value: symbol "ATXN2" xsd:string [Term] id: Orphanet:118928 name: ataxin 3 xref: ENSEMBL:ENSG00000066427 xref: GENATLAS:ATXN3 xref: HGNC:7106 xref: OMIM:607047 xref: UNIPROTKB/SWISSPROT:P54252 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:276238 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Machado-Joseph disease type 1 relationship: Orphanet:317343 Orphanet:276241 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Machado-Joseph disease type 2 relationship: Orphanet:317343 Orphanet:276244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Machado-Joseph disease type 3 property_value: alternative:term "ATX3" xsd:string property_value: alternative:term "JOS" xsd:string property_value: alternative:term "Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)" xsd:string property_value: alternative:term "MJD" xsd:string property_value: alternative:term "SCA3" xsd:string property_value: symbol "ATXN3" xsd:string [Term] id: Orphanet:118934 name: ataxin 7 xref: ENSEMBL:ENSG00000163635 xref: GENATLAS:ATXN7 xref: HGNC:10560 xref: OMIM:607640 xref: REACTOME:O15265 xref: UNIPROTKB/SWISSPROT:O15265 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:94147 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 7 property_value: alternative:term "ADCAII" xsd:string property_value: alternative:term "OPCA3" xsd:string property_value: alternative:term "SCA7" xsd:string property_value: alternative:term "spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)" xsd:string property_value: symbol "ATXN7" xsd:string [Term] id: Orphanet:118939 name: ataxin 8 xref: GENATLAS:ATXN8 xref: HGNC:32925 xref: OMIM:613289 xref: UNIPROTKB/SWISSPROT:Q156A1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98760 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 8 property_value: alternative:term "SCA8" xsd:string property_value: symbol "ATXN8" xsd:string [Term] id: Orphanet:118941 name: AU RNA binding protein/enoyl-CoA hydratase xref: ENSEMBL:ENSG00000148090 xref: GENATLAS:AUH xref: HGNC:890 xref: OMIM:600529 xref: REACTOME:Q13825 xref: UNIPROTKB/SWISSPROT:Q13825 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:67046 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 3-methylglutaconic aciduria type 1 property_value: alternative:term "AU RNA binding protein/enoyl-Coenzyme A hydratase" xsd:string property_value: alternative:term "AU RNA-binding protein/enoyl-Coenzyme A hydratase" xsd:string property_value: symbol "AUH" xsd:string [Term] id: Orphanet:118943 name: arginine vasopressin xref: ENSEMBL:ENSG00000101200 xref: GENATLAS:AVP xref: HGNC:894 xref: OMIM:192340 xref: REACTOME:P01185 xref: UNIPROTKB/SWISSPROT:P01185 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:30925 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary central diabetes insipidus property_value: alternative:term "ADH" xsd:string property_value: alternative:term "antidiuretic hormone" xsd:string property_value: alternative:term "Arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal)" xsd:string property_value: alternative:term "ARVP" xsd:string property_value: alternative:term "diabetes insipidus" xsd:string property_value: alternative:term "neurohypophyseal" xsd:string property_value: alternative:term "neurophysin II" xsd:string property_value: alternative:term "prepro-arginine-vasopressin-neurophysin II" xsd:string property_value: alternative:term "prepro-AVP-NP II" xsd:string property_value: symbol "AVP" xsd:string [Term] id: Orphanet:118947 name: arginine vasopressin receptor 2 xref: ENSEMBL:ENSG00000126895 xref: GENATLAS:AVPR2 xref: HGNC:897 xref: IUPHAR:368 xref: OMIM:300538 xref: REACTOME:P30518 xref: UNIPROTKB/SWISSPROT:P30518 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:223 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nephrogenic diabetes insipidus relationship: Orphanet:317343 Orphanet:93606 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nephrogenic syndrome of inappropriate antidiuresis property_value: alternative:term "Arginine vasopressin receptor 2 (nephrogenic diabetes insipidus)" xsd:string property_value: alternative:term "DIR" xsd:string property_value: alternative:term "DIR3" xsd:string property_value: alternative:term "nephrogenic diabetes insipidus" xsd:string property_value: alternative:term "V2R" xsd:string property_value: symbol "AVPR2" xsd:string [Term] id: Orphanet:118954 name: axin 2 xref: ENSEMBL:ENSG00000168646 xref: GENATLAS:AXIN2 xref: HGNC:904 xref: OMIM:604025 xref: UNIPROTKB/SWISSPROT:Q9Y2T1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:300576 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oligodontia - cancer predisposition syndrome relationship: Orphanet:317343 Orphanet:99798 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oligodontia property_value: alternative:term "axil" xsd:string property_value: alternative:term "Axin 2 (conductin, axil)" xsd:string property_value: alternative:term "conductin" xsd:string property_value: alternative:term "DKFZp781B0869" xsd:string property_value: alternative:term "MGC126582" xsd:string property_value: symbol "AXIN2" xsd:string [Term] id: Orphanet:118958 name: beta 1,3-galactosyltransferase-like xref: ENSEMBL:ENSG00000187676 xref: GENATLAS:B3GALTL xref: HGNC:20207 xref: OMIM:610308 xref: UNIPROTKB/SWISSPROT:Q6Y288 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:709 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Peters-plus syndrome property_value: alternative:term "B3Glc-T" xsd:string property_value: alternative:term "B3GTL" xsd:string property_value: symbol "B3GALTL" xsd:string [Term] id: Orphanet:118962 name: UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 xref: ENSEMBL:ENSG00000086062 xref: GENATLAS:B4GALT1 xref: HGNC:924 xref: OMIM:137060 xref: REACTOME:P15291 xref: UNIPROTKB/SWISSPROT:P15291 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79332 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! B4GALT1-CDG property_value: alternative:term "beta4Gal-T1" xsd:string property_value: alternative:term "GGTB2" xsd:string property_value: symbol "B4GALT1" xsd:string [Term] id: Orphanet:118966 name: xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 xref: ENSEMBL:ENSG00000027847 xref: GENATLAS:B4GALT7 xref: HGNC:930 xref: OMIM:604327 xref: REACTOME:Q9UBV7 xref: UNIPROTKB/SWISSPROT:Q9UBV7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:75496 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos syndrome, progeroid type property_value: alternative:term "beta4Gal-T7" xsd:string property_value: alternative:term "galactosyltransferase I" xsd:string property_value: alternative:term "XGALT-1" xsd:string property_value: alternative:term "Xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)" xsd:string property_value: symbol "B4GALT7" xsd:string [Term] id: Orphanet:118970 name: bromodomain adjacent to zinc finger domain, 1B xref: ENSEMBL:ENSG00000009954 xref: GENATLAS:BAZ1B xref: HGNC:961 xref: OMIM:605681 xref: UNIPROTKB/SWISSPROT:Q9UIG0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Williams syndrome property_value: alternative:term "transcription factor WSTF" xsd:string property_value: alternative:term "WBSCR10" xsd:string property_value: alternative:term "WBSCR9" xsd:string property_value: alternative:term "Williams-Beuren syndrome chromosome region 10" xsd:string property_value: alternative:term "Williams-Beuren syndrome chromosome region 9" xsd:string property_value: alternative:term "WSTF" xsd:string property_value: symbol "BAZ1B" xsd:string [Term] id: Orphanet:118975 name: Bardet-Biedl syndrome 1 xref: ENSEMBL:ENSG00000174483 xref: GENATLAS:BBS1 xref: HGNC:966 xref: OMIM:209901 xref: UNIPROTKB/SWISSPROT:Q8NFJ9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bardet-Biedl syndrome property_value: alternative:term "FLJ23590" xsd:string property_value: symbol "BBS1" xsd:string [Term] id: Orphanet:118978 name: Bardet-Biedl syndrome 10 xref: ENSEMBL:ENSG00000179941 xref: GENATLAS:BBS10 xref: HGNC:26291 xref: OMIM:610148 xref: UNIPROTKB/SWISSPROT:Q8TAM1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bardet-Biedl syndrome property_value: alternative:term "C12orf58" xsd:string property_value: alternative:term "chromosome 12 open reading frame 58" xsd:string property_value: alternative:term "FLJ23560" xsd:string property_value: symbol "BBS10" xsd:string [Term] id: Orphanet:118982 name: Bardet-Biedl syndrome 2 xref: ENSEMBL:ENSG00000125124 xref: GENATLAS:BBS2 xref: HGNC:967 xref: OMIM:606151 xref: UNIPROTKB/SWISSPROT:Q9BXC9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bardet-Biedl syndrome property_value: alternative:term "BBS" xsd:string property_value: symbol "BBS2" xsd:string [Term] id: Orphanet:118985 name: Bardet-Biedl syndrome 4 xref: ENSEMBL:ENSG00000140463 xref: GENATLAS:BBS4 xref: HGNC:969 xref: OMIM:600374 xref: UNIPROTKB/SWISSPROT:Q96RK4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bardet-Biedl syndrome property_value: symbol "BBS4" xsd:string [Term] id: Orphanet:118987 name: Bardet-Biedl syndrome 5 xref: ENSEMBL:ENSG00000163093 xref: GENATLAS:BBS5 xref: HGNC:970 xref: OMIM:603650 xref: UNIPROTKB/SWISSPROT:Q8N3I7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bardet-Biedl syndrome property_value: alternative:term "DKFZp762I194" xsd:string property_value: symbol "BBS5" xsd:string [Term] id: Orphanet:118990 name: Bardet-Biedl syndrome 7 xref: ENSEMBL:ENSG00000138686 xref: GENATLAS:BBS7 xref: HGNC:18758 xref: OMIM:607590 xref: UNIPROTKB/SWISSPROT:Q8IWZ6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bardet-Biedl syndrome property_value: alternative:term "BBS2L1" xsd:string property_value: alternative:term "FLJ10715" xsd:string property_value: symbol "BBS7" xsd:string [Term] id: Orphanet:118994 name: Bardet-Biedl syndrome 9 xref: ENSEMBL:ENSG00000122507 xref: GENATLAS:BBS9 xref: HGNC:30000 xref: OMIM:607968 xref: UNIPROTKB/SWISSPROT:Q3SYG4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bardet-Biedl syndrome property_value: alternative:term "B1" xsd:string property_value: alternative:term "parathyroid hormone responsive B1 gene" xsd:string property_value: alternative:term "PTHB1" xsd:string property_value: symbol "BBS9" xsd:string [Term] id: Orphanet:118998 name: butyrylcholinesterase xref: ENSEMBL:ENSG00000114200 xref: GENATLAS:BCHE xref: HGNC:983 xref: IUPHAR:2471 xref: OMIM:177400 xref: REACTOME:P06276 xref: UNIPROTKB/SWISSPROT:P06276 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:132 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Butyrylcholinesterase deficiency property_value: alternative:term "CHE1" xsd:string property_value: alternative:term "CHE2" xsd:string property_value: alternative:term "cholinesterase (serum) 2" xsd:string property_value: alternative:term "cholinesterase 1" xsd:string property_value: alternative:term "E1" xsd:string property_value: symbol "BCHE" xsd:string [Term] id: Orphanet:119 name: Autosomal recessive limb-girdle muscular dystrophy type 2E xref: ICD10:G71.0 xref: OMIM:604286 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102015 ! Autosomal recessive limb-girdle muscular dystrophy relationship: part_of Orphanet:207063 ! Qualitative or quantitative defects of beta-sarcoglycan relationship: part_of Orphanet:217610 ! Neuromuscular disease with dilated cardiomyopathy property_value: alternative:term "Beta-sarcoglycanopathy" xsd:string property_value: alternative:term "LGMD2E" xsd:string property_value: alternative:term "Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a limb girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness, particularly of the pelvic girdle muscles." xsd:string [Term] id: Orphanet:1190 name: Atelosteogenesis type I xref: ICD10:Q78.8 xref: MESH:C535396 xref: OMIM:108720 xref: UMLS:C0265283 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:138055 ! Pierre Robin syndrome associated with bone disease relationship: part_of Orphanet:93425 ! Filamin-related bone disorder relationship: part_of Orphanet:93441 ! Primary bone dysplasia with multiple joint dislocations property_value: alternative:term "AO1" xsd:string property_value: alternative:term "AOI" xsd:string property_value: alternative:term "Giant cell chondrodysplasia" xsd:string property_value: alternative:term "Spondylo-humero-femoral dysplasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings." xsd:string [Term] id: Orphanet:119002 name: branched chain keto acid dehydrogenase E1, alpha polypeptide xref: ENSEMBL:ENSG00000248098 xref: GENATLAS:BCKDHA xref: HGNC:986 xref: OMIM:608348 xref: REACTOME:P12694 xref: UNIPROTKB/SWISSPROT:P12694 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:268145 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Classic maple syrup urine disease relationship: Orphanet:317343 Orphanet:268162 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intermediate maple syrup urine disease relationship: Orphanet:317343 Orphanet:268173 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intermittent maple syrup urine disease relationship: Orphanet:317343 Orphanet:268184 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thiamine-responsive maple syrup urine disease property_value: alternative:term "2-oxoisovalerate dehydrogenase (lipoamide)" xsd:string property_value: alternative:term "branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)" xsd:string property_value: alternative:term "maple syrup urine disease" xsd:string property_value: alternative:term "MSU" xsd:string property_value: alternative:term "OVD1A" xsd:string property_value: symbol "BCKDHA" xsd:string [Term] id: Orphanet:119005 name: branched chain keto acid dehydrogenase E1, beta polypeptide xref: ENSEMBL:ENSG00000083123 xref: GENATLAS:BCKDHB xref: HGNC:987 xref: OMIM:248611 xref: REACTOME:P21953 xref: UNIPROTKB/SWISSPROT:P21953 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:268145 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Classic maple syrup urine disease relationship: Orphanet:317343 Orphanet:268162 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intermediate maple syrup urine disease relationship: Orphanet:317343 Orphanet:268173 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intermittent maple syrup urine disease relationship: Orphanet:317343 Orphanet:268184 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thiamine-responsive maple syrup urine disease property_value: alternative:term "Branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)" xsd:string property_value: alternative:term "maple syrup urine disease" xsd:string property_value: symbol "BCKDHB" xsd:string [Term] id: Orphanet:119007 name: B-cell CLL/lymphoma 2 xref: ENSEMBL:ENSG00000171791 xref: GENATLAS:BCL2 xref: HGNC:990 xref: OMIM:151430 xref: REACTOME:P10415 xref: UNIPROTKB/SWISSPROT:P10415 is_a: Orphanet:C010 ! gene relationship: Orphanet:317347 Orphanet:98839 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intravascular large B-cell lymphoma relationship: Orphanet:317348 Orphanet:545 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Follicular lymphoma property_value: alternative:term "Bcl-2" xsd:string property_value: alternative:term "PPP1R50" xsd:string property_value: alternative:term "protein phosphatase 1, regulatory subunit 50" xsd:string property_value: symbol "BCL2" xsd:string [Term] id: Orphanet:119010 name: B-cell CLL/lymphoma 7B xref: ENSEMBL:ENSG00000106635 xref: GENATLAS:BCL7B xref: HGNC:1005 xref: OMIM:605846 xref: UNIPROTKB/SWISSPROT:Q9BQE9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Williams syndrome property_value: symbol "BCL7B" xsd:string [Term] id: Orphanet:119012 name: BCL6 corepressor xref: ENSEMBL:ENSG00000183337 xref: GENATLAS:BCOR xref: HGNC:20893 xref: OMIM:300485 xref: UNIPROTKB/SWISSPROT:Q6W2J9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2712 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oculofaciocardiodental syndrome relationship: Orphanet:317343 Orphanet:568 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microphthalmia, Lenz type property_value: alternative:term "BCL6 co-repressor" xsd:string property_value: alternative:term "FLJ20285" xsd:string property_value: alternative:term "KIAA1575" xsd:string property_value: symbol "BCOR" xsd:string [Term] id: Orphanet:119016 name: breakpoint cluster region xref: ENSEMBL:ENSG00000186716 xref: GENATLAS:BCR xref: HGNC:1014 xref: OMIM:151410 xref: REACTOME:P11274 xref: UNIPROTKB/SWISSPROT:P11274 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:521 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chronic myeloid leukemia relationship: Orphanet:317348 Orphanet:99860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor B-cell acute lymphoblastic leukemia relationship: Orphanet:317348 Orphanet:99861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor T-cell acute lymphoblastic leukemia relationship: Orphanet:317349 Orphanet:261330 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Distal 22q11.2 microdeletion syndrome property_value: alternative:term "ALL" xsd:string property_value: alternative:term "BCR1" xsd:string property_value: alternative:term "CML" xsd:string property_value: alternative:term "D22S11" xsd:string property_value: alternative:term "D22S662" xsd:string property_value: alternative:term "PHL" xsd:string property_value: symbol "BCR" xsd:string [Term] id: Orphanet:119021 name: BC1 (ubiquinol-cytochrome c reductase) synthesis-like xref: ENSEMBL:ENSG00000074582 xref: GENATLAS:BCS1L xref: HGNC:1020 xref: OMIM:603647 xref: REACTOME:Q9Y276 xref: UNIPROTKB/SWISSPROT:Q9Y276 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:123 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Björnstad syndrome relationship: Orphanet:317343 Orphanet:1460 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated CoQ-cytochrome C reductase deficiency relationship: Orphanet:317343 Orphanet:254902 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Renal tubulopathy - encephalopathy - liver failure relationship: Orphanet:317343 Orphanet:255249 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with nephrotic syndrome relationship: Orphanet:317343 Orphanet:53693 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! GRACILE syndrome property_value: alternative:term "BCS" xsd:string property_value: alternative:term "BCS1 (yeast homolog)-like" xsd:string property_value: alternative:term "BCS1-like" xsd:string property_value: alternative:term "BCS1-like (S. cerevisiae)" xsd:string property_value: alternative:term "BCS1-like (yeast)" xsd:string property_value: alternative:term "Bjornstad syndrome" xsd:string property_value: alternative:term "BJS" xsd:string property_value: alternative:term "GRACILE syndrome" xsd:string property_value: alternative:term "h-BCS" xsd:string property_value: alternative:term "Hs.6719" xsd:string property_value: symbol "BCS1L" xsd:string [Term] id: Orphanet:119027 name: brain-derived neurotrophic factor xref: ENSEMBL:ENSG00000176697 xref: GENATLAS:BDNF xref: HGNC:1033 xref: OMIM:113505 xref: UNIPROTKB/SWISSPROT:P23560 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:661 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ondine syndrome relationship: Orphanet:317346 Orphanet:893 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! WAGR syndrome property_value: alternative:term "neurotrophin" xsd:string property_value: symbol "BDNF" xsd:string [Term] id: Orphanet:119029 name: bestrophin 1 xref: ENSEMBL:ENSG00000167995 xref: GENATLAS:BEST1 xref: HGNC:12703 xref: OMIM:607854 xref: REACTOME:O76090 xref: UNIPROTKB/SWISSPROT:O76090 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1243 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Best vitelliform macular dystrophy relationship: Orphanet:317343 Orphanet:139455 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinopathy, Burgess-Black type relationship: Orphanet:317343 Orphanet:263347 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MRCS syndrome relationship: Orphanet:317343 Orphanet:3086 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant vitreoretinochoroidopathy relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa relationship: Orphanet:317343 Orphanet:99000 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adult-onset foveomacular vitelliform dystrophy property_value: alternative:term "BEST" xsd:string property_value: alternative:term "Best disease" xsd:string property_value: alternative:term "BMD" xsd:string property_value: alternative:term "RP50" xsd:string property_value: alternative:term "vitelliform macular dystrophy 2" xsd:string property_value: alternative:term "VMD2" xsd:string property_value: symbol "BEST1" xsd:string [Term] id: Orphanet:119034 name: beaded filament structural protein 2, phakinin xref: ENSEMBL:ENSG00000170819 xref: GENATLAS:BFSP2 xref: HGNC:1041 xref: OMIM:603212 xref: UNIPROTKB/SWISSPROT:Q13515 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98992 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Partial congenital cataract property_value: alternative:term "CP47" xsd:string property_value: alternative:term "CP49" xsd:string property_value: alternative:term "LIFL-L" xsd:string property_value: alternative:term "phakinin" xsd:string property_value: symbol "BFSP2" xsd:string [Term] id: Orphanet:119045 name: biogenesis of lysosomal organelles complex-1, subunit 3 xref: ENSEMBL:ENSG00000189114 xref: GENATLAS:BLOC1S3 xref: HGNC:20914 xref: OMIM:609762 xref: REACTOME:Q6QNY0 xref: UNIPROTKB/SWISSPROT:Q6QNY0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231537 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hermansky-Pudlak syndrome type 8 property_value: alternative:term "Biogenesis of Lysosome-related Organelles complex-1 Subunit 3" xsd:string property_value: alternative:term "Biogenesis of lysosome-related organelles complex-1, subunit 3" xsd:string property_value: alternative:term "BLOC-1 subunit 3" xsd:string property_value: alternative:term "BLOS3" xsd:string property_value: alternative:term "Hermansky-Pudlak syndrome 8" xsd:string property_value: alternative:term "HPS8" xsd:string property_value: symbol "BLOC1S3" xsd:string [Term] id: Orphanet:119048 name: bone morphogenetic protein receptor, type IA xref: ENSEMBL:ENSG00000107779 xref: GENATLAS:BMPR1A xref: HGNC:1076 xref: IUPHAR:1786 xref: OMIM:601299 xref: REACTOME:P36894 xref: UNIPROTKB/SWISSPROT:P36894 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:144 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary nonpolyposis colon cancer relationship: Orphanet:317343 Orphanet:157794 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary mixed polyposis syndrome relationship: Orphanet:317343 Orphanet:329971 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Generalized juvenile polyposis/juvenile polyposis coli relationship: Orphanet:317349 Orphanet:79076 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juvenile polyposis of infancy property_value: alternative:term "ACVRLK3" xsd:string property_value: alternative:term "ALK3" xsd:string property_value: alternative:term "CD292" xsd:string property_value: symbol "BMPR1A" xsd:string [Term] id: Orphanet:119053 name: bone morphogenetic protein receptor, type IB xref: ENSEMBL:ENSG00000138696 xref: GENATLAS:BMPR1B xref: HGNC:1077 xref: IUPHAR:1789 xref: OMIM:603248 xref: REACTOME:O00238 xref: UNIPROTKB/SWISSPROT:O00238 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93384 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brachydactyly type C relationship: Orphanet:317343 Orphanet:93396 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brachydactyly type A2 property_value: alternative:term "ALK6" xsd:string property_value: alternative:term "CDw293" xsd:string property_value: symbol "BMPR1B" xsd:string [Term] id: Orphanet:119057 name: bone morphogenetic protein receptor, type II (serine/threonine kinase) xref: ENSEMBL:ENSG00000204217 xref: GENATLAS:BMPR2 xref: HGNC:1078 xref: IUPHAR:1794 xref: OMIM:600799 xref: REACTOME:Q13873 xref: UNIPROTKB/SWISSPROT:Q13873 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:275777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Heritable pulmonary arterial hypertension relationship: Orphanet:317343 Orphanet:31837 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pulmonary venoocclusive disease relationship: Orphanet:317345 Orphanet:275766 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic pulmonary arterial hypertension property_value: alternative:term "BMPR-II" xsd:string property_value: alternative:term "BMPR3" xsd:string property_value: alternative:term "BRK-3" xsd:string property_value: alternative:term "PPH1" xsd:string property_value: alternative:term "primary pulmonary hypertension 1" xsd:string property_value: alternative:term "T-ALK" xsd:string property_value: symbol "BMPR2" xsd:string [Term] id: Orphanet:119064 name: 2,3-bisphosphoglycerate mutase xref: ENSEMBL:ENSG00000172331 xref: GENATLAS:BPGM xref: HGNC:1093 xref: OMIM:613896 xref: UNIPROTKB/SWISSPROT:P07738 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:714 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemolytic anemia due to diphosphoglycerate mutase deficiency property_value: symbol "BPGM" xsd:string [Term] id: Orphanet:119066 name: v-raf murine sarcoma viral oncogene homolog B xref: ENSEMBL:ENSG00000157764 xref: GENATLAS:BRAF xref: HGNC:1097 xref: IUPHAR:1943 xref: OMIM:164757 xref: REACTOME:P15056 xref: UNIPROTKB/SWISSPROT:P15056 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1340 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cardiofaciocutaneous syndrome relationship: Orphanet:317343 Orphanet:500 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! LEOPARD syndrome relationship: Orphanet:317343 Orphanet:648 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Noonan syndrome relationship: Orphanet:317344 Orphanet:251612 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pilocytic astrocytoma relationship: Orphanet:317344 Orphanet:58017 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hairy cell leukemia relationship: Orphanet:317344 Orphanet:99872 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hashimoto-Pritzker syndrome relationship: Orphanet:317348 Orphanet:251612 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pilocytic astrocytoma property_value: alternative:term "BRAF1" xsd:string property_value: alternative:term "V-raf murine sarcoma viral oncogene homolog B1" xsd:string property_value: symbol "BRAF" xsd:string [Term] id: Orphanet:119068 name: breast cancer 1, early onset xref: ENSEMBL:ENSG00000012048 xref: GENATLAS:BRCA1 xref: HGNC:1100 xref: OMIM:113705 xref: REACTOME:P38398 xref: UNIPROTKB/SWISSPROT:P38398 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:1331 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial prostate cancer relationship: Orphanet:317345 Orphanet:1333 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial pancreatic carcinoma relationship: Orphanet:317345 Orphanet:145 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary breast and ovarian cancer syndrome relationship: Orphanet:317345 Orphanet:168829 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary peritoneal carcinoma relationship: Orphanet:317345 Orphanet:213524 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary site-specific ovarian cancer syndrome relationship: Orphanet:317345 Orphanet:227535 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary breast cancer property_value: alternative:term "BRCA1/BRCA2-containing complex, subunit 1" xsd:string property_value: alternative:term "BRCC1" xsd:string property_value: alternative:term "PPP1R53" xsd:string property_value: alternative:term "protein phosphatase 1, regulatory subunit 53" xsd:string property_value: alternative:term "RNF53" xsd:string property_value: symbol "BRCA1" xsd:string [Term] id: Orphanet:119072 name: breast cancer 2, early onset xref: ENSEMBL:ENSG00000139618 xref: GENATLAS:BRCA2 xref: HGNC:1101 xref: OMIM:600185 xref: REACTOME:P51587 xref: UNIPROTKB/SWISSPROT:P51587 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319462 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations relationship: Orphanet:317343 Orphanet:84 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fanconi anemia relationship: Orphanet:317345 Orphanet:1331 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial prostate cancer relationship: Orphanet:317345 Orphanet:1333 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial pancreatic carcinoma relationship: Orphanet:317345 Orphanet:145 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary breast and ovarian cancer syndrome relationship: Orphanet:317345 Orphanet:213524 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary site-specific ovarian cancer syndrome relationship: Orphanet:317345 Orphanet:227535 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary breast cancer property_value: alternative:term "BRCA1/BRCA2-containing complex, subunit 2" xsd:string property_value: alternative:term "BRCC2" xsd:string property_value: alternative:term "FACD" xsd:string property_value: alternative:term "FAD" xsd:string property_value: alternative:term "FAD1" xsd:string property_value: alternative:term "FANCD" xsd:string property_value: alternative:term "FANCD1" xsd:string property_value: alternative:term "Fanconi anemia, complementation group D1" xsd:string property_value: symbol "BRCA2" xsd:string [Term] id: Orphanet:119080 name: BRCA1 interacting protein C-terminal helicase 1 xref: ENSEMBL:ENSG00000136492 xref: GENATLAS:BRIP1 xref: HGNC:20473 xref: OMIM:605882 xref: REACTOME:Q9BX63 xref: UNIPROTKB/SWISSPROT:Q9BX63 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:145 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary breast and ovarian cancer syndrome relationship: Orphanet:317343 Orphanet:84 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fanconi anemia property_value: alternative:term "BACH1" xsd:string property_value: alternative:term "BRCA1/BRCA2-associated helicase 1" xsd:string property_value: alternative:term "FANCJ" xsd:string property_value: alternative:term "OF" xsd:string property_value: symbol "BRIP1" xsd:string [Term] id: Orphanet:119085 name: Berardinelli-Seip congenital lipodystrophy 2 (seipin) xref: ENSEMBL:ENSG00000168000 xref: GENATLAS:BSCL2 xref: HGNC:15832 xref: OMIM:606158 xref: UNIPROTKB/SWISSPROT:Q96G97 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100998 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant spastic paraplegia type 17 relationship: Orphanet:317343 Orphanet:139536 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Distal hereditary motor neuropathy type 5 relationship: Orphanet:317343 Orphanet:363400 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe neurodegenerative syndrome with lipodystrophy relationship: Orphanet:317343 Orphanet:528 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Berardinelli-Seip congenital lipodystrophy property_value: alternative:term "Bernardinelli-Seip congenital lipodystrophy 2 (seipin)" xsd:string property_value: alternative:term "GNG3LG" xsd:string property_value: alternative:term "spastic paraplegia 17 (Silver syndrome)" xsd:string property_value: alternative:term "SPG17" xsd:string property_value: symbol "BSCL2" xsd:string [Term] id: Orphanet:119089 name: Bartter syndrome, infantile, with sensorineural deafness (Barttin) xref: ENSEMBL:ENSG00000162399 xref: GENATLAS:BSND xref: HGNC:16512 xref: OMIM:606412 xref: REACTOME:Q8WZ55 xref: UNIPROTKB/SWISSPROT:Q8WZ55 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:89938 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile Bartter syndrome with deafness relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "BART" xsd:string property_value: alternative:term "deafness, autosomal recessive 73" xsd:string property_value: alternative:term "DFNB73" xsd:string property_value: symbol "BSND" xsd:string [Term] id: Orphanet:119092 name: biotinidase xref: ENSEMBL:ENSG00000169814 xref: GENATLAS:BTD xref: HGNC:1122 xref: OMIM:609019 xref: REACTOME:P43251 xref: UNIPROTKB/SWISSPROT:P43251 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79241 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Biotinidase deficiency property_value: symbol "BTD" xsd:string [Term] id: Orphanet:119094 name: Bruton agammaglobulinemia tyrosine kinase xref: ENSEMBL:ENSG00000010671 xref: GENATLAS:BTK xref: HGNC:1133 xref: IUPHAR:1948 xref: OMIM:300300 xref: REACTOME:Q06187 xref: UNIPROTKB/SWISSPROT:Q06187 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:47 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked agammaglobulinemia relationship: Orphanet:317343 Orphanet:632 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia property_value: alternative:term "AGMX1" xsd:string property_value: alternative:term "ATK" xsd:string property_value: alternative:term "IMD1" xsd:string property_value: alternative:term "PSCTK1" xsd:string property_value: alternative:term "XLA" xsd:string property_value: symbol "BTK" xsd:string [Term] id: Orphanet:119101 name: BUB1 mitotic checkpoint serine/threonine kinase B xref: ENSEMBL:ENSG00000156970 xref: GENATLAS:BUB1B xref: HGNC:1149 xref: IUPHAR:1950 xref: OMIM:602860 xref: REACTOME:O60566 xref: UNIPROTKB/SWISSPROT:O60566 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1052 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mosaic variegated aneuploidy syndrome property_value: alternative:term "BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)" xsd:string property_value: alternative:term "Bub1A" xsd:string property_value: alternative:term "BUBR1" xsd:string property_value: alternative:term "budding uninhibited by benzimidazoles 1 (yeast homolog), beta" xsd:string property_value: alternative:term "budding uninhibited by benzimidazoles 1 homolog beta (yeast)" xsd:string property_value: alternative:term "MAD3L" xsd:string property_value: alternative:term "SSK1" xsd:string property_value: symbol "BUB1B" xsd:string [Term] id: Orphanet:119106 name: complement component 2 xref: ENSEMBL:ENSG00000166278 xref: GENATLAS:C2 xref: HGNC:1248 xref: OMIM:613927 xref: REACTOME:P06681 xref: UNIPROTKB/SWISSPROT:P06681 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169147 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency due to an early component of complement deficiency property_value: symbol "C2" xsd:string [Term] id: Orphanet:119113 name: M-phase specific PLK1 interacting protein xref: ENSEMBL:ENSG00000168303 xref: GENATLAS:C7orf11 xref: HGNC:16002 xref: OMIM:609188 xref: UNIPROTKB/SWISSPROT:Q8TAP9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:33364 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Trichothiodystrophy property_value: alternative:term "C7orf11" xsd:string property_value: alternative:term "Chromosome 7 open reading frame 11" xsd:string property_value: alternative:term "Non-photosensitive 1" xsd:string property_value: alternative:term "ORF20" xsd:string property_value: alternative:term "tricothiodystrophy, non-photosensitive 1" xsd:string property_value: alternative:term "TTDN1" xsd:string property_value: symbol "MPLKIP" xsd:string [Term] id: Orphanet:119117 name: carbonic anhydrase II xref: ENSEMBL:ENSG00000104267 xref: GENATLAS:CA2 xref: HGNC:1373 xref: OMIM:611492 xref: REACTOME:P00918 xref: UNIPROTKB/SWISSPROT:P00918 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2785 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteopetrosis with renal tubular acidosis property_value: alternative:term "CA-II" xsd:string property_value: alternative:term "CAII" xsd:string property_value: alternative:term "Car2" xsd:string property_value: symbol "CA2" xsd:string [Term] id: Orphanet:119122 name: carbonic anhydrase IV xref: ENSEMBL:ENSG00000167434 xref: GENATLAS:CA4 xref: HGNC:1375 xref: IUPHAR:2599 xref: OMIM:114760 xref: REACTOME:P22748 xref: UNIPROTKB/SWISSPROT:P22748 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "CAIV" xsd:string property_value: alternative:term "Car4" xsd:string property_value: alternative:term "retinitis pigmentosa 17 (autosomal dominant)" xsd:string property_value: alternative:term "RP17" xsd:string property_value: symbol "CA4" xsd:string [Term] id: Orphanet:119127 name: calcium binding protein 4 xref: ENSEMBL:ENSG00000175544 xref: GENATLAS:CABP4 xref: HGNC:1386 xref: OMIM:608965 xref: UNIPROTKB/SWISSPROT:P57796 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:215 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital stationary night blindness property_value: alternative:term "CSNB2B" xsd:string property_value: symbol "CABP4" xsd:string [Term] id: Orphanet:119129 name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit xref: ENSEMBL:ENSG00000141837 xref: GENATLAS:CACNA1A xref: HGNC:1388 xref: IUPHAR:532 xref: OMIM:601011 xref: REACTOME:O00555 xref: UNIPROTKB/SWISSPROT:O00555 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2131 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alternating hemiplegia of childhood relationship: Orphanet:317343 Orphanet:569 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial or sporadic hemiplegic migraine relationship: Orphanet:317343 Orphanet:71518 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Benign paroxysmal torticollis of infancy relationship: Orphanet:317343 Orphanet:97 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial paroxysmal ataxia relationship: Orphanet:317343 Orphanet:98758 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 6 property_value: alternative:term "APCA" xsd:string property_value: alternative:term "CACNL1A4" xsd:string property_value: alternative:term "Cav2.1" xsd:string property_value: alternative:term "EA2" xsd:string property_value: alternative:term "FHM" xsd:string property_value: alternative:term "HPCA" xsd:string property_value: alternative:term "MHP" xsd:string property_value: alternative:term "MHP1" xsd:string property_value: alternative:term "SCA6" xsd:string property_value: symbol "CACNA1A" xsd:string [Term] id: Orphanet:119140 name: calcium channel, voltage-dependent, L type, alpha 1C subunit xref: ENSEMBL:ENSG00000151067 xref: GENATLAS:CACNA1C xref: HGNC:1390 xref: IUPHAR:529 xref: OMIM:114205 xref: REACTOME:Q13936 xref: UNIPROTKB/SWISSPROT:Q13936 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:130 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brugada syndrome relationship: Orphanet:317343 Orphanet:65283 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Timothy syndrome property_value: alternative:term "CACH2" xsd:string property_value: alternative:term "CACN2" xsd:string property_value: alternative:term "CACNL1A1" xsd:string property_value: alternative:term "Cav1.2" xsd:string property_value: alternative:term "CCHL1A1" xsd:string property_value: alternative:term "LQT8" xsd:string property_value: alternative:term "TS" xsd:string property_value: symbol "CACNA1C" xsd:string [Term] id: Orphanet:119148 name: calcium channel, voltage-dependent, L type, alpha 1F subunit xref: ENSEMBL:ENSG00000102001 xref: GENATLAS:CACNA1F xref: HGNC:1393 xref: IUPHAR:531 xref: OMIM:300110 xref: UNIPROTKB/SWISSPROT:O60840 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178333 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Åland Islands eye disease relationship: Orphanet:317343 Orphanet:1872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone rod dystrophy relationship: Orphanet:317343 Orphanet:215 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital stationary night blindness property_value: alternative:term "AIED" xsd:string property_value: alternative:term "Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)" xsd:string property_value: alternative:term "Cav1.4" xsd:string property_value: alternative:term "CORDX3" xsd:string property_value: alternative:term "CSNB2" xsd:string property_value: alternative:term "CSNB2A" xsd:string property_value: alternative:term "CSNBX2" xsd:string property_value: alternative:term "JM8" xsd:string property_value: alternative:term "JMC8" xsd:string property_value: alternative:term "OA2" xsd:string property_value: symbol "CACNA1F" xsd:string [Term] id: Orphanet:119157 name: calcium channel, voltage-dependent, L type, alpha 1S subunit xref: ENSEMBL:ENSG00000081248 xref: GENATLAS:CACNA1S xref: HGNC:1397 xref: IUPHAR:528 xref: OMIM:114208 xref: REACTOME:Q13698 xref: UNIPROTKB/SWISSPROT:Q13698 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:681 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hypokalemic periodic paralysis relationship: Orphanet:317345 Orphanet:423 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Malignant hyperthermia relationship: Orphanet:317345 Orphanet:79102 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thyrotoxic periodic paralysis property_value: alternative:term "CACNL1A3" xsd:string property_value: alternative:term "Cav1.1" xsd:string property_value: alternative:term "HOKPP" xsd:string property_value: alternative:term "hypoPP" xsd:string property_value: alternative:term "MHS5" xsd:string property_value: symbol "CACNA1S" xsd:string [Term] id: Orphanet:119164 name: calcium channel, voltage-dependent, beta 2 subunit xref: ENSEMBL:ENSG00000165995 xref: GENATLAS:CACNB2 xref: HGNC:1402 xref: OMIM:600003 xref: REACTOME:Q08289 xref: UNIPROTKB/SWISSPROT:Q08289 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:130 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brugada syndrome property_value: alternative:term "CACNLB2" xsd:string property_value: alternative:term "MYSB" xsd:string property_value: symbol "CACNB2" xsd:string [Term] id: Orphanet:119168 name: calcium channel, voltage-dependent, beta 4 subunit xref: ENSEMBL:ENSG00000182389 xref: GENATLAS:CACNB4 xref: HGNC:1404 xref: OMIM:601949 xref: REACTOME:O00305 xref: UNIPROTKB/SWISSPROT:O00305 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:211067 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Episodic ataxia type 5 relationship: Orphanet:317345 Orphanet:307 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Juvenile myoclonic epilepsy property_value: alternative:term "EJM4" xsd:string property_value: symbol "CACNB4" xsd:string [Term] id: Orphanet:119172 name: calpain 3, (p94) xref: ENSEMBL:ENSG00000092529 xref: GENATLAS:CAPN3 xref: HGNC:1480 xref: OMIM:114240 xref: UNIPROTKB/SWISSPROT:P20807 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:267 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive limb girdle muscular dystrophy type 2A property_value: alternative:term "CANP3" xsd:string property_value: alternative:term "LGMD2" xsd:string property_value: alternative:term "LGMD2A" xsd:string property_value: alternative:term "nCL-1" xsd:string property_value: alternative:term "p94" xsd:string property_value: symbol "CAPN3" xsd:string [Term] id: Orphanet:119179 name: caspase 10, apoptosis-related cysteine peptidase xref: ENSEMBL:ENSG00000003400 xref: GENATLAS:CASP10 xref: HGNC:1500 xref: IUPHAR:1626 xref: OMIM:601762 xref: REACTOME:Q92851 xref: UNIPROTKB/SWISSPROT:Q92851 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3261 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autoimmune lymphoproliferative syndrome property_value: alternative:term "caspase 10, apoptosis-related cysteine protease" xsd:string property_value: alternative:term "MCH4" xsd:string property_value: symbol "CASP10" xsd:string [Term] id: Orphanet:119182 name: calsequestrin 2 (cardiac muscle) xref: ENSEMBL:ENSG00000118729 xref: GENATLAS:CASQ2 xref: HGNC:1513 xref: OMIM:114251 xref: UNIPROTKB/SWISSPROT:O14958 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3286 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Catecholaminergic polymorphic ventricular tachycardia property_value: alternative:term "PDIB2" xsd:string property_value: symbol "CASQ2" xsd:string [Term] id: Orphanet:119185 name: calcium-sensing receptor xref: ENSEMBL:ENSG00000036828 xref: GENATLAS:CASR xref: HGNC:1514 xref: IUPHAR:54 xref: OMIM:601199 xref: REACTOME:P41180 xref: UNIPROTKB/SWISSPROT:P41180 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:189466 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated hypoparathyroidism due to impaired PTH secretion relationship: Orphanet:317343 Orphanet:263417 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bartter syndrome with hypocalcemia relationship: Orphanet:317343 Orphanet:417 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal severe primary hyperparathyroidism relationship: Orphanet:317343 Orphanet:428 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant hypocalcemia relationship: Orphanet:317343 Orphanet:93372 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hypocalciuric hypercalcemia type 1 property_value: alternative:term "Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)" xsd:string property_value: alternative:term "FHH" xsd:string property_value: alternative:term "GPRC2A" xsd:string property_value: alternative:term "HHC" xsd:string property_value: alternative:term "HHC1" xsd:string property_value: alternative:term "hypocalciuric hypercalcemia 1" xsd:string property_value: alternative:term "NSHPT" xsd:string property_value: alternative:term "severe neonatal hyperparathyroidism" xsd:string property_value: symbol "CASR" xsd:string [Term] id: Orphanet:119192 name: catalase xref: ENSEMBL:ENSG00000121691 xref: GENATLAS:CAT xref: HGNC:1516 xref: OMIM:115500 xref: REACTOME:P04040 xref: UNIPROTKB/SWISSPROT:P04040 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:926 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acatalasemia property_value: symbol "CAT" xsd:string [Term] id: Orphanet:119194 name: caveolin 3 xref: ENSEMBL:ENSG00000182533 xref: GENATLAS:CAV3 xref: HGNC:1529 xref: OMIM:601253 xref: UNIPROTKB/SWISSPROT:P56539 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101016 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Romano-Ward syndrome relationship: Orphanet:317343 Orphanet:265 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant limb-girdle muscular dystrophy type 1C relationship: Orphanet:317343 Orphanet:97238 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rippling muscle disease property_value: alternative:term "LGMD1C" xsd:string property_value: alternative:term "LQT9" xsd:string property_value: alternative:term "M-caveolin" xsd:string property_value: alternative:term "VIP-21" xsd:string property_value: alternative:term "VIP21" xsd:string property_value: symbol "CAV3" xsd:string [Term] id: Orphanet:119199 name: cystathionine-beta-synthase xref: ENSEMBL:ENSG00000160200 xref: GENATLAS:CBS xref: HGNC:1550 xref: OMIM:613381 xref: REACTOME:P35520 xref: UNIPROTKB/SWISSPROT:P35520 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:394 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Classical homocystinuria property_value: alternative:term "HIP4" xsd:string property_value: symbol "CBS" xsd:string [Term] id: Orphanet:1192 name: Atherosclerosis - deafness - diabetes - epilepsy - nephropathy xref: OMIM:209010 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:166463 ! Epileptic syndrome relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Feigenbaum-Bergeron-Richardson syndrome" xsd:string [Term] id: Orphanet:119202 name: coiled-coil and C2 domain containing 1A xref: ENSEMBL:ENSG00000132024 xref: GENATLAS:CC2D1A xref: HGNC:30237 xref: OMIM:610055 xref: UNIPROTKB/SWISSPROT:Q6P1N0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88616 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive nonsyndromic intellectual deficit property_value: alternative:term "FLJ20241" xsd:string property_value: alternative:term "mental retardation, nonsyndromic, autosomal recessive, 3" xsd:string property_value: alternative:term "MRT3" xsd:string property_value: symbol "CC2D1A" xsd:string [Term] id: Orphanet:119206 name: coiled-coil domain containing 6 xref: ENSEMBL:ENSG00000108091 xref: GENATLAS:CCDC6 xref: HGNC:18782 xref: OMIM:601985 xref: UNIPROTKB/SWISSPROT:Q16204 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Papillary or follicular thyroid carcinoma property_value: alternative:term "D10S170" xsd:string property_value: alternative:term "DNA segment on chromosome 10 (unique) 170" xsd:string property_value: alternative:term "DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1" xsd:string property_value: alternative:term "H4" xsd:string property_value: alternative:term "PTC" xsd:string property_value: alternative:term "TPC" xsd:string property_value: alternative:term "TST1" xsd:string property_value: symbol "CCDC6" xsd:string [Term] id: Orphanet:119213 name: cerebral cavernous malformation 2 xref: ENSEMBL:ENSG00000136280 xref: GENATLAS:CCM2 xref: HGNC:21708 xref: OMIM:607929 xref: UNIPROTKB/SWISSPROT:Q9BSQ5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:221061 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary cerebral cavernous malformation property_value: alternative:term "C7orf22" xsd:string property_value: alternative:term "chromosome 7 open reading frame 22" xsd:string property_value: alternative:term "malcavernin" xsd:string property_value: alternative:term "MGC4607" xsd:string property_value: symbol "CCM2" xsd:string [Term] id: Orphanet:119217 name: cyclin D1 xref: ENSEMBL:ENSG00000110092 xref: GENATLAS:CCND1 xref: HGNC:1582 xref: OMIM:168461 xref: REACTOME:P24385 xref: UNIPROTKB/SWISSPROT:P24385 is_a: Orphanet:C010 ! gene relationship: Orphanet:317344 Orphanet:52416 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mantle cell lymphoma relationship: Orphanet:317345 Orphanet:29073 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple myeloma relationship: Orphanet:317348 Orphanet:67038 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! B-cell chronic lymphocytic leukemia property_value: alternative:term "B-cell CLL/lymphoma 1" xsd:string property_value: alternative:term "BCL1" xsd:string property_value: alternative:term "cyclin D1 (PRAD1: parathyroid adenomatosis 1)" xsd:string property_value: alternative:term "D11S287E" xsd:string property_value: alternative:term "G1/S-specific cyclin D1" xsd:string property_value: alternative:term "parathyroid adenomatosis 1" xsd:string property_value: alternative:term "PRAD1" xsd:string property_value: alternative:term "U21B31" xsd:string property_value: symbol "CCND1" xsd:string [Term] id: Orphanet:119222 name: chaperonin containing TCP1, subunit 5 (epsilon) xref: ENSEMBL:ENSG00000150753 xref: GENATLAS:CCT5 xref: HGNC:1618 xref: OMIM:610150 xref: REACTOME:P48643 xref: UNIPROTKB/SWISSPROT:P48643 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:139578 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary sensory and autonomic neuropathy with spastic paraplegia property_value: alternative:term "KIAA0098" xsd:string property_value: symbol "CCT5" xsd:string [Term] id: Orphanet:119235 name: CD19 molecule xref: ENSEMBL:ENSG00000177455 xref: GENATLAS:CD19 xref: HGNC:1633 xref: OMIM:107265 xref: REACTOME:P15391 xref: UNIPROTKB/SWISSPROT:P15391 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1572 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Common variable immunodeficiency property_value: alternative:term "CD19 antigen" xsd:string property_value: symbol "CD19" xsd:string [Term] id: Orphanet:119244 name: CD40 molecule, TNF receptor superfamily member 5 xref: ENSEMBL:ENSG00000101017 xref: GENATLAS:CD40 xref: HGNC:11919 xref: OMIM:109535 xref: REACTOME:P25942 xref: UNIPROTKB/SWISSPROT:P25942 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101090 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyper-IgM syndrome type 3 property_value: alternative:term "Bp50" xsd:string property_value: alternative:term "p50" xsd:string property_value: alternative:term "TNFRSF5" xsd:string property_value: alternative:term "tumor necrosis factor receptor superfamily, member 5" xsd:string property_value: symbol "CD40" xsd:string [Term] id: Orphanet:119249 name: CD40 ligand xref: ENSEMBL:ENSG00000102245 xref: GENATLAS:CD40LG xref: HGNC:11935 xref: OMIM:300386 xref: REACTOME:P29965 xref: UNIPROTKB/SWISSPROT:P29965 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101088 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked hyper-IgM syndrome property_value: alternative:term "CD154" xsd:string property_value: alternative:term "CD40 antigen ligand" xsd:string property_value: alternative:term "CD40 ligand (TNF superfamily, member 5, hyper-IgM syndrome)" xsd:string property_value: alternative:term "CD40L" xsd:string property_value: alternative:term "gp39" xsd:string property_value: alternative:term "hCD40L" xsd:string property_value: alternative:term "HIGM1" xsd:string property_value: alternative:term "hyper-IgM syndrome" xsd:string property_value: alternative:term "IMD3" xsd:string property_value: alternative:term "T-B cell-activating molecule" xsd:string property_value: alternative:term "TNF-related activation protein" xsd:string property_value: alternative:term "TNFSF5" xsd:string property_value: alternative:term "TRAP" xsd:string property_value: alternative:term "tumor necrosis factor (ligand) superfamily member 5" xsd:string property_value: alternative:term "tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)" xsd:string property_value: symbol "CD40LG" xsd:string [Term] id: Orphanet:119259 name: CD46 molecule, complement regulatory protein xref: ENSEMBL:ENSG00000117335 xref: GENATLAS:CD46 xref: HGNC:6953 xref: OMIM:120920 xref: REACTOME:P15529 xref: UNIPROTKB/SWISSPROT:P15529 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:93576 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Atypical hemolytic uremic syndrome with MCP/CD46 anomaly property_value: alternative:term "antigen identified by monoclonal antibody TRA-2-10" xsd:string property_value: alternative:term "CD46 antigen, complement regulatory protein" xsd:string property_value: alternative:term "MCP" xsd:string property_value: alternative:term "membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)" xsd:string property_value: alternative:term "MGC26544" xsd:string property_value: alternative:term "MIC10" xsd:string property_value: alternative:term "TLX" xsd:string property_value: alternative:term "TRA2.10" xsd:string property_value: symbol "CD46" xsd:string [Term] id: Orphanet:119266 name: codanin 1 xref: ENSEMBL:ENSG00000140326 xref: GENATLAS:CDAN1 xref: HGNC:1713 xref: OMIM:607465 xref: UNIPROTKB/SWISSPROT:Q8IWY9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98869 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital dyserythropoietic anemia type I property_value: alternative:term "CDA-I" xsd:string property_value: alternative:term "CDAI" xsd:string property_value: alternative:term "codanin" xsd:string property_value: alternative:term "Congenital dyserythropoietic anemia, type I" xsd:string property_value: symbol "CDAN1" xsd:string [Term] id: Orphanet:119271 name: cell division cycle 73 xref: ENSEMBL:ENSG00000134371 xref: GENATLAS:CDC73 xref: HGNC:16783 xref: OMIM:607393 xref: UNIPROTKB/SWISSPROT:Q6P1J9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:143 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Parathyroid carcinoma relationship: Orphanet:317343 Orphanet:99877 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial parathyroid adenoma relationship: Orphanet:317343 Orphanet:99879 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated hyperparathyroidism relationship: Orphanet:317343 Orphanet:99880 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperparathyroidism - jaw tumor syndrome relationship: Orphanet:317344 Orphanet:143 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Parathyroid carcinoma property_value: alternative:term "C1orf28" xsd:string property_value: alternative:term "Cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)" xsd:string property_value: alternative:term "chromosome 1 open reading frame 28" xsd:string property_value: alternative:term "HRPT2" xsd:string property_value: alternative:term "hyperparathyroidism 2 (with jaw tumor)" xsd:string property_value: alternative:term "Paf1/RNA polymerase II complex component" xsd:string property_value: alternative:term "parafibromin" xsd:string property_value: symbol "CDC73" xsd:string [Term] id: Orphanet:119276 name: cadherin 1, type 1, E-cadherin (epithelial) xref: ENSEMBL:ENSG00000039068 xref: GENATLAS:CDH1 xref: HGNC:1748 xref: OMIM:192090 xref: REACTOME:P12830 xref: UNIPROTKB/SWISSPROT:P12830 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:26106 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial gastric cancer relationship: Orphanet:317345 Orphanet:36273 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Gastric linitis plastica property_value: alternative:term "CD324" xsd:string property_value: alternative:term "E-Cadherin" xsd:string property_value: alternative:term "UVO" xsd:string property_value: alternative:term "uvomorulin" xsd:string property_value: symbol "CDH1" xsd:string [Term] id: Orphanet:119281 name: cadherin-related 23 xref: ENSEMBL:ENSG00000107736 xref: GENATLAS:CDH23 xref: HGNC:13733 xref: OMIM:605516 xref: UNIPROTKB/SWISSPROT:Q9H251 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231169 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Usher syndrome type 1 relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "cadherin related 23" xsd:string property_value: alternative:term "Cadherin-like 23" xsd:string property_value: alternative:term "cadherin-related family member 23" xsd:string property_value: alternative:term "CDHR23" xsd:string property_value: alternative:term "DFNB12" xsd:string property_value: alternative:term "USH1D" xsd:string property_value: symbol "CDH23" xsd:string [Term] id: Orphanet:119285 name: cadherin 3, type 1, P-cadherin (placental) xref: ENSEMBL:ENSG00000062038 xref: GENATLAS:CDH3 xref: HGNC:1762 xref: OMIM:114021 xref: REACTOME:P22223 xref: UNIPROTKB/SWISSPROT:P22223 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1573 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypotrichosis with juvenile macular degeneration relationship: Orphanet:317343 Orphanet:1897 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! EEM syndrome property_value: alternative:term "cadherin 3, P-cadherin (placental)" xsd:string property_value: alternative:term "CDHP" xsd:string property_value: alternative:term "PCAD" xsd:string property_value: symbol "CDH3" xsd:string [Term] id: Orphanet:119289 name: cyclin-dependent kinase 4 xref: ENSEMBL:ENSG00000135446 xref: GENATLAS:CDK4 xref: HGNC:1773 xref: IUPHAR:1976 xref: OMIM:123829 xref: REACTOME:P11802 xref: UNIPROTKB/SWISSPROT:P11802 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:618 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial melanoma relationship: Orphanet:317349 Orphanet:99970 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dedifferentiated liposarcoma relationship: Orphanet:317349 Orphanet:99971 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Well-differentiated liposarcoma property_value: alternative:term "PSK-J3" xsd:string property_value: symbol "CDK4" xsd:string [Term] id: Orphanet:119292 name: CDK5 regulatory subunit associated protein 2 xref: ENSEMBL:ENSG00000136861 xref: GENATLAS:CDK5RAP2 xref: HGNC:18672 xref: OMIM:608201 xref: REACTOME:Q96SN8 xref: UNIPROTKB/SWISSPROT:Q96SN8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2512 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive primary microcephaly property_value: alternative:term "C48" xsd:string property_value: alternative:term "CEP215" xsd:string property_value: alternative:term "FLJ10867" xsd:string property_value: alternative:term "MCPH3" xsd:string property_value: alternative:term "microcephaly, primary autosomal recessive 3" xsd:string property_value: symbol "CDK5RAP2" xsd:string [Term] id: Orphanet:119297 name: cyclin-dependent kinase-like 5 xref: ENSEMBL:ENSG00000008086 xref: GENATLAS:CDKL5 xref: HGNC:11411 xref: IUPHAR:1986 xref: OMIM:300203 xref: UNIPROTKB/SWISSPROT:O76039 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3095 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atypical Rett syndrome relationship: Orphanet:317343 Orphanet:3451 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! West syndrome property_value: alternative:term "EIEE2" xsd:string property_value: alternative:term "serine/threonine kinase 9" xsd:string property_value: alternative:term "STK9" xsd:string property_value: symbol "CDKL5" xsd:string [Term] id: Orphanet:1193 name: Atkin-Flaitz syndrome xref: ICD10:Q87.8 xref: OMIM:300431 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "X-linked intellectual deficit, Atkin type" xsd:string [Term] id: Orphanet:119300 name: cyclin-dependent kinase inhibitor 1C (p57, Kip2) xref: ENSEMBL:ENSG00000129757 xref: GENATLAS:CDKN1C xref: HGNC:1786 xref: OMIM:600856 xref: UNIPROTKB/SWISSPROT:P49918 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231120 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Beckwith-Wiedemann syndrome due to CDKN1C mutation relationship: Orphanet:317343 Orphanet:85173 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! IMAGe syndrome property_value: alternative:term "Beckwith-Wiedemann syndrome" xsd:string property_value: alternative:term "BWCR" xsd:string property_value: alternative:term "BWS" xsd:string property_value: alternative:term "KIP2" xsd:string property_value: alternative:term "P57" xsd:string property_value: symbol "CDKN1C" xsd:string [Term] id: Orphanet:119306 name: cyclin-dependent kinase inhibitor 2A xref: ENSEMBL:ENSG00000147889 xref: GENATLAS:CDKN2A xref: HGNC:1787 xref: OMIM:600160 xref: REACTOME:P42771 xref: UNIPROTKB/SWISSPROT:P42771 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:252206 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Melanoma and neural system tumor syndrome relationship: Orphanet:317344 Orphanet:99860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor B-cell acute lymphoblastic leukemia relationship: Orphanet:317344 Orphanet:99861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor T-cell acute lymphoblastic leukemia relationship: Orphanet:317345 Orphanet:1333 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial pancreatic carcinoma relationship: Orphanet:317345 Orphanet:51013 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Melanoma-pancreatic cancer syndrome relationship: Orphanet:317345 Orphanet:618 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial melanoma property_value: alternative:term "ARF" xsd:string property_value: alternative:term "CDK4I" xsd:string property_value: alternative:term "CDKN2" xsd:string property_value: alternative:term "CMM2" xsd:string property_value: alternative:term "Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)" xsd:string property_value: alternative:term "INK4" xsd:string property_value: alternative:term "INK4a" xsd:string property_value: alternative:term "MLM" xsd:string property_value: alternative:term "MTS1" xsd:string property_value: alternative:term "p14" xsd:string property_value: alternative:term "p16" xsd:string property_value: alternative:term "p16INK4a" xsd:string property_value: alternative:term "p19" xsd:string property_value: alternative:term "p19Arf" xsd:string property_value: symbol "CDKN2A" xsd:string [Term] id: Orphanet:119324 name: corneodesmosin xref: ENSEMBL:ENSG00000204539 xref: GENATLAS:CDSN xref: HGNC:1802 xref: OMIM:602593 xref: UNIPROTKB/SWISSPROT:Q15517 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:263553 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Peeling skin syndrome type B relationship: Orphanet:317343 Orphanet:90368 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypotrichosis simplex of the scalp property_value: alternative:term "D6S586E" xsd:string property_value: symbol "CDSN" xsd:string [Term] id: Orphanet:119333 name: carboxyl ester lipase xref: ENSEMBL:ENSG00000170835 xref: GENATLAS:CEL xref: HGNC:1848 xref: OMIM:114840 xref: REACTOME:P19835 xref: UNIPROTKB/SWISSPROT:P19835 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:552 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MODY syndrome property_value: alternative:term "bile salt-stimulated lipase" xsd:string property_value: alternative:term "BSSL" xsd:string property_value: alternative:term "Carboxyl ester lipase (bile salt-stimulated lipase)" xsd:string property_value: alternative:term "MODY8" xsd:string property_value: symbol "CEL" xsd:string [Term] id: Orphanet:119336 name: centromere protein J xref: ENSEMBL:ENSG00000151849 xref: GENATLAS:CENPJ xref: HGNC:17272 xref: OMIM:609279 xref: REACTOME:Q9HC77 xref: UNIPROTKB/SWISSPROT:Q9HC77 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2512 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive primary microcephaly relationship: Orphanet:317343 Orphanet:808 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Seckel syndrome property_value: alternative:term "BM032" xsd:string property_value: alternative:term "centrosomal P4.1-associated protein" xsd:string property_value: alternative:term "CPAP" xsd:string property_value: alternative:term "LAP" xsd:string property_value: alternative:term "LIP1" xsd:string property_value: alternative:term "MCPH6" xsd:string property_value: alternative:term "microcephaly, primary autosomal recessive 6" xsd:string property_value: alternative:term "Sas-4" xsd:string property_value: alternative:term "SASS4" xsd:string property_value: alternative:term "SCKL4" xsd:string property_value: symbol "CENPJ" xsd:string [Term] id: Orphanet:119343 name: centrosomal protein 290kDa xref: ENSEMBL:ENSG00000198707 xref: GENATLAS:CEP290 xref: HGNC:29021 xref: OMIM:610142 xref: REACTOME:O15078 xref: UNIPROTKB/SWISSPROT:O15078 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bardet-Biedl syndrome relationship: Orphanet:317343 Orphanet:2318 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with oculorenal defect relationship: Orphanet:317343 Orphanet:3156 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Senior-Loken syndrome relationship: Orphanet:317343 Orphanet:564 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Meckel syndrome relationship: Orphanet:317343 Orphanet:65 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber congenital amaurosis property_value: alternative:term "3H11Ag" xsd:string property_value: alternative:term "BBS14" xsd:string property_value: alternative:term "cancer/testis antigen 87" xsd:string property_value: alternative:term "CT87" xsd:string property_value: alternative:term "FLJ13615" xsd:string property_value: alternative:term "JBTS5" xsd:string property_value: alternative:term "Joubert syndrome 5" xsd:string property_value: alternative:term "KIAA0373" xsd:string property_value: alternative:term "LCA10" xsd:string property_value: alternative:term "Meckel syndrome, type 4" xsd:string property_value: alternative:term "MKS4" xsd:string property_value: alternative:term "nephrocystin-6" xsd:string property_value: alternative:term "NPHP6" xsd:string property_value: alternative:term "POC3" xsd:string property_value: alternative:term "POC3 centriolar protein homolog (Chlamydomonas)" xsd:string property_value: alternative:term "rd16" xsd:string property_value: alternative:term "SLSN6" xsd:string property_value: symbol "CEP290" xsd:string [Term] id: Orphanet:119354 name: ceramide kinase-like xref: ENSEMBL:ENSG00000188452 xref: GENATLAS:CERKL xref: HGNC:21699 xref: OMIM:608381 xref: UNIPROTKB/SWISSPROT:Q49MI3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "retinitis pigmentosa 26 (autosomal recessive)" xsd:string property_value: alternative:term "RP26" xsd:string property_value: symbol "CERKL" xsd:string [Term] id: Orphanet:119357 name: cholesteryl ester transfer protein, plasma xref: ENSEMBL:ENSG00000087237 xref: GENATLAS:CETP xref: HGNC:1869 xref: OMIM:118470 xref: REACTOME:P11597 xref: UNIPROTKB/SWISSPROT:P11597 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79506 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cholesterol-ester transfer protein deficiency property_value: alternative:term "BPI fold containing family F" xsd:string property_value: alternative:term "BPIFF" xsd:string property_value: symbol "CETP" xsd:string [Term] id: Orphanet:119359 name: cripto, FRL-1, cryptic family 1 xref: ENSEMBL:ENSG00000136698 xref: GENATLAS:CFC1 xref: HGNC:18292 xref: OMIM:605194 xref: REACTOME:P0CG37 xref: UNIPROTKB/SWISSPROT:P0CG37 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:157769 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Situs ambiguus relationship: Orphanet:317345 Orphanet:244283 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Biliary atresia with splenic malformation syndrome relationship: Orphanet:317345 Orphanet:3426 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Double outlet right ventricle property_value: alternative:term "CRYPTIC" xsd:string property_value: alternative:term "HTX2" xsd:string property_value: symbol "CFC1" xsd:string [Term] id: Orphanet:119363 name: complement factor H xref: ENSEMBL:ENSG00000000971 xref: GENATLAS:CFH xref: HGNC:4883 xref: OMIM:134370 xref: REACTOME:P08603 xref: UNIPROTKB/SWISSPROT:P08603 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:200421 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency with factor H anomaly relationship: Orphanet:317343 Orphanet:329903 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunoglobulin-mediated membranoproliferative glomerulonephritis relationship: Orphanet:317343 Orphanet:75376 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial drusen relationship: Orphanet:317343 Orphanet:93571 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dense deposit disease relationship: Orphanet:317345 Orphanet:93579 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Atypical hemolytic uremic syndrome with H factor anomaly property_value: alternative:term "age-related maculopathy susceptibility 1" xsd:string property_value: alternative:term "ARMD4" xsd:string property_value: alternative:term "ARMS1" xsd:string property_value: alternative:term "beta-1H" xsd:string property_value: alternative:term "FHL1" xsd:string property_value: alternative:term "H factor 1 (complement)" xsd:string property_value: alternative:term "H factor 2 (complement)" xsd:string property_value: alternative:term "HF" xsd:string property_value: alternative:term "HF1" xsd:string property_value: alternative:term "HF2" xsd:string property_value: alternative:term "HUS" xsd:string property_value: symbol "CFH" xsd:string [Term] id: Orphanet:119371 name: complement factor I xref: ENSEMBL:ENSG00000205403 xref: GENATLAS:CFI xref: HGNC:5394 xref: OMIM:217030 xref: REACTOME:P05156 xref: UNIPROTKB/SWISSPROT:P05156 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:200418 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency with factor I anomaly relationship: Orphanet:317345 Orphanet:93580 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Atypical hemolytic uremic syndrome with I factor anomaly property_value: alternative:term "C3b-INA" xsd:string property_value: alternative:term "C3b-inactivator" xsd:string property_value: alternative:term "FI" xsd:string property_value: alternative:term "I factor (complement)" xsd:string property_value: alternative:term "IF" xsd:string property_value: alternative:term "KAF" xsd:string property_value: alternative:term "Konglutinogen-activating factor" xsd:string property_value: symbol "CFI" xsd:string [Term] id: Orphanet:119377 name: cofilin 2 (muscle) xref: ENSEMBL:ENSG00000165410 xref: GENATLAS:CFL2 xref: HGNC:1875 xref: OMIM:601443 xref: UNIPROTKB/SWISSPROT:Q9Y281 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171436 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Typical nemaline myopathy property_value: alternative:term "NEM7" xsd:string property_value: alternative:term "nemaline myopathy type 7" xsd:string property_value: symbol "CFL2" xsd:string [Term] id: Orphanet:119379 name: complement factor properdin xref: ENSEMBL:ENSG00000126759 xref: GENATLAS:CFP xref: HGNC:8864 xref: OMIM:300383 xref: REACTOME:P27918 xref: UNIPROTKB/SWISSPROT:P27918 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2966 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Properdin deficiency property_value: alternative:term "PFC" xsd:string property_value: alternative:term "properdin P factor, complement" xsd:string property_value: symbol "CFP" xsd:string [Term] id: Orphanet:119382 name: cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) xref: ENSEMBL:ENSG00000001626 xref: GENATLAS:CFTR xref: HGNC:1884 xref: IUPHAR:707 xref: OMIM:602421 xref: REACTOME:P13569 xref: UNIPROTKB/SWISSPROT:P13569 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:48 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital bilateral absence of vas deferens relationship: Orphanet:317343 Orphanet:586 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cystic fibrosis relationship: Orphanet:317343 Orphanet:60033 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Idiopathic bronchiectasis relationship: Orphanet:327767 Orphanet:217034 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Male infertility with normal virilization due to meiosis defect relationship: Orphanet:327767 Orphanet:676 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary chronic pancreatitis property_value: alternative:term "ABC35" xsd:string property_value: alternative:term "ABCC7" xsd:string property_value: alternative:term "ATP-binding cassette sub-family C, member 7" xsd:string property_value: alternative:term "CF" xsd:string property_value: alternative:term "CFTR/MRP" xsd:string property_value: alternative:term "cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)" xsd:string property_value: alternative:term "dJ760C5.1" xsd:string property_value: alternative:term "MRP7" xsd:string property_value: alternative:term "TNR-CFTR" xsd:string property_value: symbol "CFTR" xsd:string [Term] id: Orphanet:119387 name: choline O-acetyltransferase xref: ENSEMBL:ENSG00000070748 xref: GENATLAS:CHAT xref: HGNC:1912 xref: OMIM:118490 xref: REACTOME:P28329 xref: UNIPROTKB/SWISSPROT:P28329 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98914 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Presynaptic congenital myasthenic syndromes property_value: alternative:term "Choline acetyltransferase" xsd:string property_value: symbol "CHAT" xsd:string [Term] id: Orphanet:119389 name: chromodomain helicase DNA binding protein 7 xref: ENSEMBL:ENSG00000171316 xref: GENATLAS:CHD7 xref: HGNC:20626 xref: OMIM:608892 xref: UNIPROTKB/SWISSPROT:Q9P2D1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:138 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CHARGE syndrome relationship: Orphanet:317343 Orphanet:39041 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Omenn syndrome relationship: Orphanet:317343 Orphanet:432 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Normosmic congenital hypogonadotropic hypogonadism relationship: Orphanet:317343 Orphanet:478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kallmann syndrome property_value: alternative:term "FLJ20357" xsd:string property_value: alternative:term "FLJ20361" xsd:string property_value: alternative:term "KIAA1416" xsd:string property_value: symbol "CHD7" xsd:string [Term] id: Orphanet:119394 name: checkpoint kinase 2 xref: ENSEMBL:ENSG00000183765 xref: GENATLAS:CHEK2 xref: HGNC:16627 xref: IUPHAR:1988 xref: OMIM:604373 xref: REACTOME:O96017 xref: UNIPROTKB/SWISSPROT:O96017 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1331 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial prostate cancer relationship: Orphanet:317343 Orphanet:145 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary breast and ovarian cancer syndrome relationship: Orphanet:317343 Orphanet:524 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Li-Fraumeni syndrome relationship: Orphanet:317344 Orphanet:668 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Osteosarcoma property_value: alternative:term "bA444G7" xsd:string property_value: alternative:term "CDS1" xsd:string property_value: alternative:term "CHK2" xsd:string property_value: alternative:term "CHK2 (checkpoint, S.pombe) homolog" xsd:string property_value: alternative:term "CHK2 checkpoint homolog (S. pombe)" xsd:string property_value: alternative:term "HuCds1" xsd:string property_value: alternative:term "PP1425" xsd:string property_value: alternative:term "RAD53" xsd:string property_value: symbol "CHEK2" xsd:string [Term] id: Orphanet:1194 name: Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency xref: ICD10:G71.3 xref: OMIM:614052 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:309136 ! Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes property_value: alternative:term "Mitochondrial encephalo-cardio-myopathy due to ATP synthase deficiency" xsd:string property_value: alternative:term "Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency" xsd:string property_value: alternative:term "Mitochondrial encephalo-cardio-myopathy due to mitochondrial respiratory chain complex V deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria." xsd:string [Term] id: Orphanet:119402 name: choroideremia (Rab escort protein 1) xref: ENSEMBL:ENSG00000188419 xref: GENATLAS:CHM xref: HGNC:1940 xref: OMIM:300390 xref: UNIPROTKB/SWISSPROT:P24386 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:180 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Choroideremia property_value: alternative:term "DXS540" xsd:string property_value: alternative:term "REP-1" xsd:string property_value: alternative:term "TCD" xsd:string property_value: symbol "CHM" xsd:string [Term] id: Orphanet:119407 name: charged multivesicular body protein 2B xref: ENSEMBL:ENSG00000083937 xref: GENATLAS:CHMP2B xref: HGNC:24537 xref: OMIM:609512 xref: REACTOME:Q9UQN3 xref: UNIPROTKB/SWISSPROT:Q9UQN3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis relationship: Orphanet:317345 Orphanet:100069 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Semantic dementia relationship: Orphanet:317345 Orphanet:100070 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Progressive non-fluent aphasia relationship: Orphanet:317345 Orphanet:275864 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Behavioral variant of frontotemporal dementia property_value: alternative:term "CHMP2.5" xsd:string property_value: alternative:term "Chromatin modifying protein 2B" xsd:string property_value: alternative:term "DKFZP564O123" xsd:string property_value: alternative:term "VPS2 homolog B (S. cerevisiae)" xsd:string property_value: alternative:term "VPS2B" xsd:string property_value: symbol "CHMP2B" xsd:string [Term] id: Orphanet:119411 name: cholinergic receptor, nicotinic, alpha 1 (muscle) xref: ENSEMBL:ENSG00000138435 xref: GENATLAS:CHRNA1 xref: HGNC:1955 xref: IUPHAR:462 xref: OMIM:100690 xref: REACTOME:P02708 xref: UNIPROTKB/SWISSPROT:P02708 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:33108 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lethal multiple pterygium syndrome relationship: Orphanet:317343 Orphanet:98913 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Postsynaptic congenital myasthenic syndromes property_value: alternative:term "acetylcholine receptor, nicotinic, alpha 1 (muscle)" xsd:string property_value: alternative:term "cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)" xsd:string property_value: alternative:term "CHRNA" xsd:string property_value: symbol "CHRNA1" xsd:string [Term] id: Orphanet:119414 name: cholinergic receptor, nicotinic, alpha 4 (neuronal) xref: ENSEMBL:ENSG00000101204 xref: GENATLAS:CHRNA4 xref: HGNC:1958 xref: IUPHAR:465 xref: OMIM:118504 xref: REACTOME:P43681 xref: UNIPROTKB/SWISSPROT:P43681 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98784 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nocturnal frontal lobe epilepsy property_value: alternative:term "acetylcholine receptor, nicotinic, alpha 4 (neuronal)" xsd:string property_value: alternative:term "BFNC" xsd:string property_value: alternative:term "Cholinergic receptor, nicotinic, alpha 4" xsd:string property_value: alternative:term "cholinergic receptor, nicotinic, alpha polypeptide 4" xsd:string property_value: alternative:term "EBN" xsd:string property_value: alternative:term "EBN1" xsd:string property_value: symbol "CHRNA4" xsd:string [Term] id: Orphanet:119419 name: cholinergic receptor, nicotinic, beta 1 (muscle) xref: ENSEMBL:ENSG00000170175 xref: GENATLAS:CHRNB1 xref: HGNC:1961 xref: IUPHAR:471 xref: OMIM:100710 xref: UNIPROTKB/SWISSPROT:P11230 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98913 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Postsynaptic congenital myasthenic syndromes property_value: alternative:term "acetylcholine receptor, nicotinic, beta 1 (muscle)" xsd:string property_value: alternative:term "cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)" xsd:string property_value: alternative:term "CHRNB" xsd:string property_value: symbol "CHRNB1" xsd:string [Term] id: Orphanet:119422 name: cholinergic receptor, nicotinic, delta (muscle) xref: ENSEMBL:ENSG00000135902 xref: GENATLAS:CHRND xref: HGNC:1965 xref: IUPHAR:476 xref: OMIM:100720 xref: REACTOME:Q07001 xref: UNIPROTKB/SWISSPROT:Q07001 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:33108 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lethal multiple pterygium syndrome relationship: Orphanet:317343 Orphanet:98913 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Postsynaptic congenital myasthenic syndromes property_value: alternative:term "acetylcholine receptor, nicotinic, delta (muscle)" xsd:string property_value: alternative:term "ACHRD" xsd:string property_value: alternative:term "Cholinergic receptor, nicotinic, delta" xsd:string property_value: symbol "CHRND" xsd:string [Term] id: Orphanet:119425 name: cholinergic receptor, nicotinic, epsilon (muscle) xref: ENSEMBL:ENSG00000108556 xref: GENATLAS:CHRNE xref: HGNC:1966 xref: IUPHAR:477 xref: OMIM:100725 xref: REACTOME:Q04844 xref: UNIPROTKB/SWISSPROT:Q04844 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98913 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Postsynaptic congenital myasthenic syndromes property_value: alternative:term "acetylcholine receptor, nicotinic, epsilon (muscle)" xsd:string property_value: alternative:term "ACHRE" xsd:string property_value: alternative:term "Cholinergic receptor, nicotinic, epsilon" xsd:string property_value: symbol "CHRNE" xsd:string [Term] id: Orphanet:119428 name: cholinergic receptor, nicotinic, gamma (muscle) xref: ENSEMBL:ENSG00000196811 xref: GENATLAS:CHRNG xref: HGNC:1967 xref: IUPHAR:475 xref: OMIM:100730 xref: REACTOME:P07510 xref: UNIPROTKB/SWISSPROT:P07510 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2990 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive multiple pterygium syndrome relationship: Orphanet:317343 Orphanet:33108 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lethal multiple pterygium syndrome property_value: alternative:term "acetylcholine receptor, nicotinic, gamma (muscle)" xsd:string property_value: alternative:term "ACHRG" xsd:string property_value: alternative:term "Cholinergic receptor, nicotinic, gamma" xsd:string property_value: symbol "CHRNG" xsd:string [Term] id: Orphanet:119431 name: carbohydrate (chondroitin 6) sulfotransferase 3 xref: ENSEMBL:ENSG00000122863 xref: GENATLAS:CHST3 xref: HGNC:1971 xref: OMIM:603799 xref: REACTOME:Q7LGC8 xref: UNIPROTKB/SWISSPROT:Q7LGC8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:263463 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CHST3-related skeletal dysplasia property_value: alternative:term "C6ST" xsd:string property_value: alternative:term "C6ST1" xsd:string property_value: symbol "CHST3" xsd:string [Term] id: Orphanet:119435 name: carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 xref: ENSEMBL:ENSG00000183196 xref: GENATLAS:CHST6 xref: HGNC:6938 xref: OMIM:605294 xref: REACTOME:Q9GZX3 xref: UNIPROTKB/SWISSPROT:Q9GZX3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98969 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Macular corneal dystrophy property_value: alternative:term "MCDC1" xsd:string property_value: symbol "CHST6" xsd:string [Term] id: Orphanet:119442 name: class II, major histocompatibility complex, transactivator xref: ENSEMBL:ENSG00000179583 xref: GENATLAS:CIITA xref: HGNC:7067 xref: OMIM:600005 xref: REACTOME:P33076 xref: UNIPROTKB/SWISSPROT:P33076 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:572 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency by defective expression of HLA class 2 property_value: alternative:term "C2TA" xsd:string property_value: alternative:term "MHC class II transactivator" xsd:string property_value: alternative:term "MHC2TA" xsd:string property_value: alternative:term "NLR family, acid domain containing" xsd:string property_value: alternative:term "NLRA" xsd:string property_value: alternative:term "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing" xsd:string property_value: symbol "CIITA" xsd:string [Term] id: Orphanet:119447 name: chloride channel, voltage-sensitive 1 xref: ENSEMBL:ENSG00000188037 xref: GENATLAS:CLCN1 xref: HGNC:2019 xref: OMIM:118425 xref: REACTOME:P35523 xref: UNIPROTKB/SWISSPROT:P35523 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:614 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thomsen and Becker disease property_value: alternative:term "chloride channel 1, skeletal muscle" xsd:string property_value: alternative:term "Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)" xsd:string property_value: alternative:term "ClC-1" xsd:string property_value: alternative:term "CLC1" xsd:string property_value: alternative:term "Thomsen disease, autosomal dominant" xsd:string property_value: symbol "CLCN1" xsd:string [Term] id: Orphanet:119453 name: chloride channel, voltage-sensitive 5 xref: ENSEMBL:ENSG00000171365 xref: GENATLAS:CLCN5 xref: HGNC:2023 xref: OMIM:300008 xref: REACTOME:P51795 xref: UNIPROTKB/SWISSPROT:P51795 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93622 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dent disease type 1 property_value: alternative:term "chloride channel 5" xsd:string property_value: alternative:term "Chloride channel 5 (nephrolithiasis 2, X-linked, Dent disease)" xsd:string property_value: alternative:term "ClC-5" xsd:string property_value: alternative:term "CLC5" xsd:string property_value: alternative:term "Dent disease" xsd:string property_value: alternative:term "DENTS" xsd:string property_value: alternative:term "hCIC-K2" xsd:string property_value: alternative:term "hClC-K2" xsd:string property_value: alternative:term "nephrolithiasis 1 (X-linked)" xsd:string property_value: alternative:term "nephrolithiasis 2, X-linked" xsd:string property_value: alternative:term "NPHL1" xsd:string property_value: alternative:term "NPHL2" xsd:string property_value: alternative:term "XLRH" xsd:string property_value: alternative:term "XRN" xsd:string property_value: symbol "CLCN5" xsd:string [Term] id: Orphanet:119462 name: chloride channel, voltage-sensitive 7 xref: ENSEMBL:ENSG00000103249 xref: GENATLAS:CLCN7 xref: HGNC:2025 xref: OMIM:602727 xref: REACTOME:P51798 xref: UNIPROTKB/SWISSPROT:P51798 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:210110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intermediate osteopetrosis relationship: Orphanet:317343 Orphanet:53 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Albers-Schönberg osteopetrosis relationship: Orphanet:317343 Orphanet:667 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive malignant osteopetrosis property_value: alternative:term "Chloride channel 7" xsd:string property_value: alternative:term "CLC-7" xsd:string property_value: alternative:term "CLC7" xsd:string property_value: alternative:term "OPTA2" xsd:string property_value: alternative:term "PPP1R63" xsd:string property_value: alternative:term "protein phosphatase 1, regulatory subunit 63" xsd:string property_value: symbol "CLCN7" xsd:string [Term] id: Orphanet:119467 name: chloride channel, voltage-sensitive Kb xref: ENSEMBL:ENSG00000184908 xref: GENATLAS:CLCNKB xref: HGNC:2027 xref: OMIM:602023 xref: REACTOME:P51801 xref: UNIPROTKB/SWISSPROT:P51801 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:358 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gitelman syndrome relationship: Orphanet:317343 Orphanet:89938 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile Bartter syndrome with deafness relationship: Orphanet:317343 Orphanet:93605 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Classic Bartter syndrome property_value: alternative:term "Chloride channel Kb" xsd:string property_value: alternative:term "hClC-Kb" xsd:string property_value: symbol "CLCNKB" xsd:string [Term] id: Orphanet:119470 name: claudin 1 xref: ENSEMBL:ENSG00000163347 xref: GENATLAS:CLDN1 xref: HGNC:2032 xref: OMIM:603718 xref: REACTOME:O95832 xref: UNIPROTKB/SWISSPROT:O95832 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:59303 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ichthyosis - hypotrichosis - sclerosing cholangitis property_value: alternative:term "ILVASC" xsd:string property_value: alternative:term "SEMP1" xsd:string property_value: alternative:term "senescence-associated epithelial membrane protein 1" xsd:string property_value: symbol "CLDN1" xsd:string [Term] id: Orphanet:119474 name: solute carrier family 37 (glucose-6-phosphate transporter), member 4 xref: ENSEMBL:ENSG00000137700 xref: GENATLAS:SLC37A4 xref: HGNC:4061 xref: OMIM:602671 xref: REACTOME:O43826 xref: UNIPROTKB/SWISSPROT:O43826 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79259 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to glucose-6-phosphatase deficiency type b property_value: alternative:term "G6PT1" xsd:string property_value: alternative:term "G6PT2" xsd:string property_value: alternative:term "G6PT3" xsd:string property_value: alternative:term "glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1" xsd:string property_value: alternative:term "GSD1b" xsd:string property_value: alternative:term "GSD1c" xsd:string property_value: alternative:term "GSD1d" xsd:string property_value: symbol "SLC37A4" xsd:string [Term] id: Orphanet:119482 name: solute carrier family 39 (zinc transporter), member 4 xref: ENSEMBL:ENSG00000147804 xref: GENATLAS:SLC39A4 xref: HGNC:17129 xref: OMIM:607059 xref: REACTOME:Q6P5W5 xref: UNIPROTKB/SWISSPROT:Q6P5W5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:37 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acrodermatitis enteropathica, zinc deficiency type property_value: alternative:term "acrodermatitis enteropathica, zinc-deficiency type" xsd:string property_value: alternative:term "AEZ" xsd:string property_value: alternative:term "AWMS2" xsd:string property_value: alternative:term "ZIP4" xsd:string property_value: symbol "SLC39A4" xsd:string [Term] id: Orphanet:119486 name: solute carrier family 40 (iron-regulated transporter), member 1 xref: ENSEMBL:ENSG00000138449 xref: GENATLAS:SLC40A1 xref: HGNC:10909 xref: OMIM:604653 xref: REACTOME:Q9NP59 xref: UNIPROTKB/SWISSPROT:Q9NP59 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:139491 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemochromatosis type 4 property_value: alternative:term "ferroportin 1" xsd:string property_value: alternative:term "FPN1" xsd:string property_value: alternative:term "HFE4" xsd:string property_value: alternative:term "IREG1" xsd:string property_value: alternative:term "MTP1" xsd:string property_value: alternative:term "SLC11A3" xsd:string property_value: alternative:term "solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3" xsd:string property_value: symbol "SLC40A1" xsd:string [Term] id: Orphanet:1195 name: Congenital atransferrinemia xref: ICD10:D50.8 xref: MESH:C538259 xref: OMIM:209300 xref: SNOMED CT:111571009 xref: UMLS:C0521802 xref: UMLS:C1859593 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309842 ! Disorder of iron metabolism and transport relationship: part_of Orphanet:98360 ! Constitutional anemia due to iron metabolism disorder property_value: alternative:term "Congenital hypotransferrinemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with paleness, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated." xsd:string [Term] id: Orphanet:119502 name: adenosine deaminase, RNA-specific xref: ENSEMBL:ENSG00000160710 xref: GENATLAS:ADAR xref: HGNC:225 xref: OMIM:146920 xref: REACTOME:P55265 xref: UNIPROTKB/SWISSPROT:P55265 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:41 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dyschromatosis symmetrica hereditaria relationship: Orphanet:317343 Orphanet:51 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Aicardi-Goutières syndrome property_value: alternative:term "ADAR1" xsd:string property_value: alternative:term "G1P1" xsd:string property_value: alternative:term "IFI4" xsd:string property_value: alternative:term "interferon-induced protein 4" xsd:string property_value: symbol "ADAR" xsd:string [Term] id: Orphanet:119507 name: adenylosuccinate lyase xref: ENSEMBL:ENSG00000239900 xref: GENATLAS:ADSL xref: HGNC:291 xref: OMIM:608222 xref: REACTOME:P30566 xref: UNIPROTKB/SWISSPROT:P30566 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:46 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adenylosuccinate lyase deficiency property_value: symbol "ADSL" xsd:string [Term] id: Orphanet:119509 name: AF4/FMR2 family, member 2 xref: ENSEMBL:ENSG00000155966 xref: GENATLAS:AFF2 xref: HGNC:3776 xref: OMIM:300806 xref: UNIPROTKB/SWISSPROT:P51816 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100973 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! FRAXE intellectual deficit property_value: alternative:term "FMR2" xsd:string property_value: alternative:term "fragile X mental retardation 2" xsd:string property_value: alternative:term "FRAXE" xsd:string property_value: symbol "AFF2" xsd:string [Term] id: Orphanet:119513 name: aspartylglucosaminidase xref: ENSEMBL:ENSG00000038002 xref: GENATLAS:AGA xref: HGNC:318 xref: OMIM:613228 xref: UNIPROTKB/SWISSPROT:P20933 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Aspartylglucosaminuria property_value: alternative:term "ASRG" xsd:string property_value: alternative:term "glycosylasparaginase" xsd:string property_value: symbol "AGA" xsd:string [Term] id: Orphanet:119516 name: angiogenic factor with G patch and FHA domains 1 xref: ENSEMBL:ENSG00000164252 xref: GENATLAS:AGGF1 xref: HGNC:24684 xref: OMIM:608464 xref: UNIPROTKB/SWISSPROT:Q8N302 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:90308 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Klippel-Trénaunay syndrome property_value: alternative:term "FLJ10283" xsd:string property_value: alternative:term "GPATC7" xsd:string property_value: alternative:term "GPATCH7" xsd:string property_value: alternative:term "HSU84971" xsd:string property_value: alternative:term "VG5Q" xsd:string property_value: symbol "AGGF1" xsd:string [Term] id: Orphanet:119523 name: amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase xref: ENSEMBL:ENSG00000162688 xref: GENATLAS:AGL xref: HGNC:321 xref: OMIM:610860 xref: REACTOME:P35573 xref: UNIPROTKB/SWISSPROT:P35573 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:366 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to glycogen debranching enzyme deficiency property_value: alternative:term "amylo-1, 6-glucosidase, 4-alpha-glucanotransferase" xsd:string property_value: alternative:term "Amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III)" xsd:string property_value: alternative:term "glycogen debranching enzyme" xsd:string property_value: alternative:term "glycogen storage disease type III" xsd:string property_value: symbol "AGL" xsd:string [Term] id: Orphanet:119525 name: 1-acylglycerol-3-phosphate O-acyltransferase 2 xref: ENSEMBL:ENSG00000169692 xref: GENATLAS:AGPAT2 xref: HGNC:325 xref: OMIM:603100 xref: REACTOME:O15120 xref: UNIPROTKB/SWISSPROT:O15120 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:528 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Berardinelli-Seip congenital lipodystrophy property_value: alternative:term "1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)" xsd:string property_value: alternative:term "Berardinelli-Seip congenital lipodystrophy" xsd:string property_value: alternative:term "BSCL" xsd:string property_value: alternative:term "LPAAT-beta" xsd:string property_value: alternative:term "lysophosphatidic acid acyltransferase, beta" xsd:string property_value: symbol "AGPAT2" xsd:string [Term] id: Orphanet:119528 name: alkylglycerone phosphate synthase xref: ENSEMBL:ENSG00000018510 xref: GENATLAS:AGPS xref: HGNC:327 xref: OMIM:603051 xref: REACTOME:O00116 xref: UNIPROTKB/SWISSPROT:O00116 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:309803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rhizomelic chondrodysplasia punctata type 3 property_value: alternative:term "ADAP-S" xsd:string property_value: alternative:term "ADAS" xsd:string property_value: alternative:term "ADHAPS" xsd:string property_value: alternative:term "ADPS" xsd:string property_value: alternative:term "ALDHPSY" xsd:string property_value: symbol "AGPS" xsd:string [Term] id: Orphanet:119535 name: angiotensinogen (serpin peptidase inhibitor, clade A, member 8) xref: ENSEMBL:ENSG00000135744 xref: GENATLAS:AGT xref: HGNC:333 xref: OMIM:106150 xref: REACTOME:P01019 xref: UNIPROTKB/SWISSPROT:P01019 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:97369 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Renal tubular dysgenesis of genetic origin property_value: alternative:term "alpha-1 antiproteinase, antitrypsin" xsd:string property_value: alternative:term "SERPINA8" xsd:string property_value: symbol "AGT" xsd:string [Term] id: Orphanet:119538 name: alanine-glyoxylate aminotransferase xref: ENSEMBL:ENSG00000172482 xref: GENATLAS:AGXT xref: HGNC:341 xref: OMIM:604285 xref: REACTOME:P21549 xref: UNIPROTKB/SWISSPROT:P21549 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93598 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary hyperoxaluria type 1 property_value: alternative:term "AGT" xsd:string property_value: alternative:term "AGT1" xsd:string property_value: alternative:term "AGXT1" xsd:string property_value: alternative:term "glycolicaciduria" xsd:string property_value: alternative:term "L-alanine: glyoxylate aminotransferase 1" xsd:string property_value: alternative:term "oxalosis I" xsd:string property_value: alternative:term "PH1" xsd:string property_value: alternative:term "primary hyperoxaluria type 1" xsd:string property_value: alternative:term "serine:pyruvate aminotransferase" xsd:string property_value: alternative:term "SPAT" xsd:string property_value: alternative:term "SPT" xsd:string property_value: symbol "AGXT" xsd:string [Term] id: Orphanet:119546 name: adenosylhomocysteinase xref: ENSEMBL:ENSG00000101444 xref: GENATLAS:AHCY xref: HGNC:343 xref: OMIM:180960 xref: REACTOME:P23526 xref: UNIPROTKB/SWISSPROT:P23526 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88618 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency property_value: alternative:term "S-adenosylhomocysteine hydrolase" xsd:string property_value: alternative:term "SAHH" xsd:string property_value: symbol "AHCY" xsd:string [Term] id: Orphanet:119549 name: Abelson helper integration site 1 xref: ENSEMBL:ENSG00000135541 xref: GENATLAS:AHI1 xref: HGNC:21575 xref: OMIM:608894 xref: UNIPROTKB/SWISSPROT:Q8N157 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220493 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with ocular defect property_value: alternative:term "Abelson helper integration site" xsd:string property_value: alternative:term "FLJ20069" xsd:string property_value: alternative:term "JBTS3" xsd:string property_value: alternative:term "Jouberin" xsd:string property_value: alternative:term "ORF1" xsd:string property_value: symbol "AHI1" xsd:string [Term] id: Orphanet:119554 name: activation-induced cytidine deaminase xref: ENSEMBL:ENSG00000111732 xref: GENATLAS:AICDA xref: HGNC:13203 xref: OMIM:605257 xref: UNIPROTKB/SWISSPROT:Q9GZX7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101089 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyper-IgM syndrome type 2 property_value: alternative:term "AID" xsd:string property_value: alternative:term "ARP2" xsd:string property_value: alternative:term "CDA2" xsd:string property_value: alternative:term "HIGM2" xsd:string property_value: symbol "AICDA" xsd:string [Term] id: Orphanet:119559 name: aryl hydrocarbon receptor interacting protein-like 1 xref: ENSEMBL:ENSG00000129221 xref: GENATLAS:AIPL1 xref: HGNC:359 xref: OMIM:604392 xref: UNIPROTKB/SWISSPROT:Q9NZN9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone rod dystrophy relationship: Orphanet:317343 Orphanet:65 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber congenital amaurosis relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "aryl hydrocarbon receptor-interacting protein-like 1" xsd:string property_value: alternative:term "LCA4" xsd:string property_value: symbol "AIPL1" xsd:string [Term] id: Orphanet:119562 name: autoimmune regulator xref: ENSEMBL:ENSG00000160224 xref: GENATLAS:AIRE xref: HGNC:360 xref: OMIM:607358 xref: UNIPROTKB/SWISSPROT:O43918 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3453 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autoimmune polyendocrinopathy type 1 property_value: alternative:term "APECED" xsd:string property_value: alternative:term "APS1" xsd:string property_value: alternative:term "autoimmune polyendocrinopathy candidiasis ectodermal dystrophy" xsd:string property_value: alternative:term "autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)" xsd:string property_value: alternative:term "PGA1" xsd:string property_value: symbol "AIRE" xsd:string [Term] id: Orphanet:119567 name: adenylate kinase 1 xref: ENSEMBL:ENSG00000106992 xref: GENATLAS:AK1 xref: HGNC:361 xref: OMIM:103000 xref: REACTOME:P00568 xref: UNIPROTKB/SWISSPROT:P00568 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:86817 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemolytic anemia due to adenylate kinase deficiency property_value: symbol "AK1" xsd:string [Term] id: Orphanet:119569 name: aminolevulinate dehydratase xref: ENSEMBL:ENSG00000148218 xref: GENATLAS:ALAD xref: HGNC:395 xref: OMIM:125270 xref: REACTOME:P13716 xref: UNIPROTKB/SWISSPROT:P13716 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100924 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Porphyria due to ALA dehydratase deficiency property_value: alternative:term "ALADH" xsd:string property_value: alternative:term "Aminolevulinate, delta-, dehydratase" xsd:string property_value: alternative:term "PBGS" xsd:string property_value: alternative:term "porphobilinogen synthase" xsd:string property_value: symbol "ALAD" xsd:string [Term] id: Orphanet:119573 name: aminolevulinate, delta-, synthase 2 xref: ENSEMBL:ENSG00000158578 xref: GENATLAS:ALAS2 xref: HGNC:397 xref: OMIM:301300 xref: REACTOME:P22557 xref: UNIPROTKB/SWISSPROT:P22557 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:75563 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked sideroblastic anemia relationship: Orphanet:317343 Orphanet:79278 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Erythropoietic protoporphyria property_value: alternative:term "Aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)" xsd:string property_value: alternative:term "ASB" xsd:string property_value: alternative:term "sideroblastic/hypochromic anemia" xsd:string property_value: symbol "ALAS2" xsd:string [Term] id: Orphanet:119576 name: albumin xref: ENSEMBL:ENSG00000163631 xref: GENATLAS:ALB xref: HGNC:399 xref: OMIM:103600 xref: REACTOME:P02768 xref: UNIPROTKB/SWISSPROT:P02768 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:86816 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital analbuminemia property_value: symbol "ALB" xsd:string [Term] id: Orphanet:119578 name: aldehyde dehydrogenase 18 family, member A1 xref: ENSEMBL:ENSG00000059573 xref: GENATLAS:ALDH18A1 xref: HGNC:9722 xref: OMIM:138250 xref: REACTOME:P54886 xref: UNIPROTKB/SWISSPROT:P54886 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:35664 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! ALDH18A1-related De Barsy syndrome property_value: alternative:term "GSAS" xsd:string property_value: alternative:term "P5CS" xsd:string property_value: alternative:term "PYCS" xsd:string property_value: alternative:term "pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)" xsd:string property_value: symbol "ALDH18A1" xsd:string [Term] id: Orphanet:119583 name: aldehyde dehydrogenase 3 family, member A2 xref: ENSEMBL:ENSG00000072210 xref: GENATLAS:ALDH3A2 xref: HGNC:403 xref: OMIM:609523 xref: UNIPROTKB/SWISSPROT:P51648 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:816 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sjögren-Larsson syndrome property_value: alternative:term "ALDH10" xsd:string property_value: alternative:term "FALDH" xsd:string property_value: alternative:term "fatty aldehyde dehydrogenase" xsd:string property_value: alternative:term "SLS" xsd:string property_value: symbol "ALDH3A2" xsd:string [Term] id: Orphanet:119588 name: aldehyde dehydrogenase 4 family, member A1 xref: ENSEMBL:ENSG00000159423 xref: GENATLAS:ALDH4A1 xref: HGNC:406 xref: OMIM:606811 xref: REACTOME:P30038 xref: UNIPROTKB/SWISSPROT:P30038 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79101 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperprolinemia type 2 property_value: alternative:term "ALDH4" xsd:string property_value: alternative:term "P5CDh" xsd:string property_value: symbol "ALDH4A1" xsd:string [Term] id: Orphanet:119592 name: aldehyde dehydrogenase 5 family, member A1 xref: ENSEMBL:ENSG00000112294 xref: GENATLAS:ALDH5A1 xref: HGNC:408 xref: OMIM:610045 xref: REACTOME:P51649 xref: UNIPROTKB/SWISSPROT:P51649 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:22 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 4-hydroxybutyric aciduria property_value: alternative:term "Aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)" xsd:string property_value: alternative:term "SSADH" xsd:string property_value: alternative:term "SSDH" xsd:string property_value: alternative:term "succinate-semialdehyde dehydrogenase" xsd:string property_value: symbol "ALDH5A1" xsd:string [Term] id: Orphanet:119596 name: aldehyde dehydrogenase 7 family, member A1 xref: ENSEMBL:ENSG00000164904 xref: GENATLAS:ALDH7A1 xref: HGNC:877 xref: OMIM:107323 xref: REACTOME:P49419 xref: UNIPROTKB/SWISSPROT:P49419 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3006 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pyridoxine-dependent epilepsy property_value: alternative:term "26g turgor protein homolog" xsd:string property_value: alternative:term "alpha-AASA dehydrogenase" xsd:string property_value: alternative:term "alpha-aminoadipic semialdehyde dehydrogenase" xsd:string property_value: alternative:term "antiquitin 1" xsd:string property_value: alternative:term "ATQ1" xsd:string property_value: alternative:term "delta1-piperideine-6-carboxylate dehydrogenease" xsd:string property_value: alternative:term "EPD" xsd:string property_value: alternative:term "P6c dehydrogenase" xsd:string property_value: alternative:term "PDE" xsd:string property_value: symbol "ALDH7A1" xsd:string [Term] id: Orphanet:119599 name: aldolase A, fructose-bisphosphate xref: ENSEMBL:ENSG00000149925 xref: GENATLAS:ALDOA xref: HGNC:414 xref: OMIM:103850 xref: REACTOME:P04075 xref: UNIPROTKB/SWISSPROT:P04075 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:57 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to aldolase A deficiency property_value: symbol "ALDOA" xsd:string [Term] id: Orphanet:119601 name: aldolase B, fructose-bisphosphate xref: ENSEMBL:ENSG00000136872 xref: GENATLAS:ALDOB xref: HGNC:417 xref: OMIM:612724 xref: REACTOME:P05062 xref: UNIPROTKB/SWISSPROT:P05062 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:469 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary fructose intolerance property_value: symbol "ALDOB" xsd:string [Term] id: Orphanet:119603 name: ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase xref: ENSEMBL:ENSG00000033011 xref: GENATLAS:ALG1 xref: HGNC:18294 xref: OMIM:605907 xref: REACTOME:Q9BT22 xref: UNIPROTKB/SWISSPROT:Q9BT22 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79327 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! ALG1-CDG property_value: alternative:term "Asparagine-linked glycosylation 1 homolog (S. cerevisiae, beta-1,4-mannosyltransferase)" xsd:string property_value: alternative:term "asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)" xsd:string property_value: alternative:term "asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)" xsd:string property_value: alternative:term "HMAT1" xsd:string property_value: alternative:term "HMT-1" xsd:string property_value: symbol "ALG1" xsd:string [Term] id: Orphanet:119610 name: ALG12, alpha-1,6-mannosyltransferase xref: ENSEMBL:ENSG00000182858 xref: GENATLAS:ALG12 xref: HGNC:19358 xref: OMIM:607144 xref: REACTOME:Q9BV10 xref: UNIPROTKB/SWISSPROT:Q9BV10 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79324 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! ALG12-CDG property_value: alternative:term "Asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase)" xsd:string property_value: alternative:term "asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)" xsd:string property_value: alternative:term "asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)" xsd:string property_value: alternative:term "dol-P-Man dependent alpha-1,6-mannosyltransferase" xsd:string property_value: alternative:term "dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase" xsd:string property_value: alternative:term "ECM39" xsd:string property_value: symbol "ALG12" xsd:string [Term] id: Orphanet:119613 name: ALG2, alpha-1,3/1,6-mannosyltransferase xref: ENSEMBL:ENSG00000119523 xref: GENATLAS:ALG2 xref: HGNC:23159 xref: OMIM:607905 xref: REACTOME:Q9H553 xref: UNIPROTKB/SWISSPROT:Q9H553 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:353327 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital myasthenic syndromes with glycosylation defect relationship: Orphanet:317343 Orphanet:79326 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! ALG2-CDG property_value: alternative:term "Asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)" xsd:string property_value: alternative:term "asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)" xsd:string property_value: alternative:term "asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)" xsd:string property_value: alternative:term "CDGIi" xsd:string property_value: alternative:term "FLJ14511" xsd:string property_value: alternative:term "hALPG2" xsd:string property_value: alternative:term "NET38" xsd:string property_value: symbol "ALG2" xsd:string [Term] id: Orphanet:119618 name: ALG3, alpha-1,3- mannosyltransferase xref: ENSEMBL:ENSG00000214160 xref: GENATLAS:ALG3 xref: HGNC:23056 xref: OMIM:608750 xref: REACTOME:Q92685 xref: UNIPROTKB/SWISSPROT:Q92685 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79321 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! ALG3-CDG property_value: alternative:term "Asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)" xsd:string property_value: alternative:term "asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)" xsd:string property_value: alternative:term "asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)" xsd:string property_value: alternative:term "carbohydrate deficient glycoprotein syndrome type IV" xsd:string property_value: alternative:term "CDGS4" xsd:string property_value: alternative:term "D16Ertd36e" xsd:string property_value: alternative:term "dol-P-Man dependent alpha-1,3- mannosyltransferase" xsd:string property_value: alternative:term "dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase" xsd:string property_value: alternative:term "Not56" xsd:string property_value: alternative:term "NOT56L" xsd:string property_value: symbol "ALG3" xsd:string [Term] id: Orphanet:119624 name: ALG6, alpha-1,3-glucosyltransferase xref: ENSEMBL:ENSG00000088035 xref: GENATLAS:ALG6 xref: HGNC:23157 xref: OMIM:604566 xref: REACTOME:Q9Y672 xref: UNIPROTKB/SWISSPROT:Q9Y672 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79320 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! ALG6-CDG property_value: alternative:term "3-glucosyltransferase" xsd:string property_value: alternative:term "Asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)" xsd:string property_value: alternative:term "asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)" xsd:string property_value: alternative:term "asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)" xsd:string property_value: symbol "ALG6" xsd:string [Term] id: Orphanet:119626 name: ALG8, alpha-1,3-glucosyltransferase xref: ENSEMBL:ENSG00000159063 xref: GENATLAS:ALG8 xref: HGNC:23161 xref: OMIM:608103 xref: REACTOME:Q9BVK2 xref: UNIPROTKB/SWISSPROT:Q9BVK2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79325 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! ALG8-CDG property_value: alternative:term "3-glucosyltransferase" xsd:string property_value: alternative:term "Asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)" xsd:string property_value: alternative:term "asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)" xsd:string property_value: alternative:term "asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)" xsd:string property_value: alternative:term "MGC2840" xsd:string property_value: symbol "ALG8" xsd:string [Term] id: Orphanet:119629 name: ALG9, alpha-1,2-mannosyltransferase xref: ENSEMBL:ENSG00000086848 xref: GENATLAS:ALG9 xref: HGNC:15672 xref: OMIM:606941 xref: REACTOME:Q9H6U8 xref: UNIPROTKB/SWISSPROT:Q9H6U8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79328 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! ALG9-CDG property_value: alternative:term "Asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)" xsd:string property_value: alternative:term "asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)" xsd:string property_value: alternative:term "asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)" xsd:string property_value: alternative:term "asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)" xsd:string property_value: alternative:term "DIBD1" xsd:string property_value: alternative:term "disrupted in bipolar affective disorder 1" xsd:string property_value: alternative:term "dol-P-Man dependent alpha-1,2-mannosyltransferase" xsd:string property_value: alternative:term "dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase" xsd:string property_value: alternative:term "dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase" xsd:string property_value: symbol "ALG9" xsd:string [Term] id: Orphanet:119632 name: Alstrom syndrome 1 xref: ENSEMBL:ENSG00000116127 xref: GENATLAS:ALMS1 xref: HGNC:428 xref: OMIM:606844 xref: REACTOME:Q8TCU4 xref: UNIPROTKB/SWISSPROT:Q8TCU4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:64 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alström syndrome property_value: alternative:term "KIAA0328" xsd:string property_value: symbol "ALMS1" xsd:string [Term] id: Orphanet:119635 name: arachidonate 12-lipoxygenase, 12R type xref: ENSEMBL:ENSG00000179477 xref: GENATLAS:ALOX12B xref: HGNC:430 xref: OMIM:603741 xref: REACTOME:O75342 xref: UNIPROTKB/SWISSPROT:O75342 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:281122 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Self-healing collodion baby relationship: Orphanet:317343 Orphanet:313 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lamellar ichthyosis relationship: Orphanet:317343 Orphanet:79394 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital non-bullous ichthyosiform erythroderma property_value: alternative:term "12R-LOX" xsd:string property_value: symbol "ALOX12B" xsd:string [Term] id: Orphanet:119637 name: arachidonate lipoxygenase 3 xref: ENSEMBL:ENSG00000179148 xref: GENATLAS:ALOXE3 xref: HGNC:13743 xref: OMIM:607206 xref: UNIPROTKB/SWISSPROT:Q9BYJ1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:281122 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Self-healing collodion baby relationship: Orphanet:317343 Orphanet:79394 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital non-bullous ichthyosiform erythroderma property_value: alternative:term "E-LOX" xsd:string property_value: alternative:term "eLOX3" xsd:string property_value: symbol "ALOXE3" xsd:string [Term] id: Orphanet:119640 name: alkaline phosphatase, liver/bone/kidney xref: ENSEMBL:ENSG00000162551 xref: GENATLAS:ALPL xref: HGNC:438 xref: OMIM:171760 xref: UNIPROTKB/SWISSPROT:P05186 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:247623 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Perinatal lethal hypophosphatasia relationship: Orphanet:317343 Orphanet:247638 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Prenatal benign hypophosphatasia relationship: Orphanet:317343 Orphanet:247651 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile hypophosphatasia relationship: Orphanet:317343 Orphanet:247667 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Childhood-onset hypophosphatasia relationship: Orphanet:317343 Orphanet:247676 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adult hypophosphatasia relationship: Orphanet:317343 Orphanet:247685 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Odontohypophosphatasia property_value: alternative:term "HOPS" xsd:string property_value: alternative:term "TNSALP" xsd:string property_value: symbol "ALPL" xsd:string [Term] id: Orphanet:119644 name: amyotrophic lateral sclerosis 2 (juvenile) xref: ENSEMBL:ENSG00000003393 xref: GENATLAS:ALS2 xref: HGNC:443 xref: OMIM:606352 xref: UNIPROTKB/SWISSPROT:Q96Q42 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:247604 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juvenile primary lateral sclerosis relationship: Orphanet:317343 Orphanet:293168 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile-onset ascending hereditary spastic paralysis relationship: Orphanet:317343 Orphanet:300605 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juvenile amyotrophic lateral sclerosis property_value: alternative:term "ALS2CR6" xsd:string property_value: alternative:term "Alsin" xsd:string property_value: alternative:term "Amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6" xsd:string property_value: symbol "ALS2" xsd:string [Term] id: Orphanet:119647 name: ALX homeobox 4 xref: ENSEMBL:ENSG00000052850 xref: GENATLAS:ALX4 xref: HGNC:450 xref: OMIM:605420 xref: UNIPROTKB/SWISSPROT:Q9H161 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:228390 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Frontonasal dysplasia with alopecia and genital anomaly relationship: Orphanet:317343 Orphanet:250 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Frontonasal dysplasia relationship: Orphanet:317343 Orphanet:60015 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Parietal foramina relationship: Orphanet:317345 Orphanet:35093 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated scaphocephaly relationship: Orphanet:317349 Orphanet:52022 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Potocki-Shaffer syndrome property_value: alternative:term "Aristaless-like homeobox 4" xsd:string property_value: alternative:term "FPP" xsd:string property_value: alternative:term "KIAA1788" xsd:string property_value: alternative:term "parietal foramina 2" xsd:string property_value: alternative:term "PFM" xsd:string property_value: alternative:term "PFM2" xsd:string property_value: symbol "ALX4" xsd:string [Term] id: Orphanet:119653 name: amelogenin, X-linked xref: ENSEMBL:ENSG00000125363 xref: GENATLAS:AMELX xref: HGNC:461 xref: OMIM:300391 xref: UNIPROTKB/SWISSPROT:Q99217 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100033 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypomaturation amelogenesis imperfecta property_value: alternative:term "AIH1" xsd:string property_value: alternative:term "amelogenesis imperfecta 1" xsd:string property_value: alternative:term "Amelogenin (amelogenesis imperfecta 1, X-linked)" xsd:string property_value: alternative:term "amelogenin (X chromosome, amelogenesis imperfecta 1)" xsd:string property_value: alternative:term "AMG" xsd:string property_value: symbol "AMELX" xsd:string [Term] id: Orphanet:119657 name: anti-Mullerian hormone xref: ENSEMBL:ENSG00000104899 xref: GENATLAS:AMH xref: HGNC:464 xref: OMIM:600957 xref: UNIPROTKB/SWISSPROT:P03971 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2856 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Persistent Müllerian duct syndrome property_value: alternative:term "MIS" xsd:string property_value: symbol "AMH" xsd:string [Term] id: Orphanet:119660 name: anti-Mullerian hormone receptor, type II xref: ENSEMBL:ENSG00000135409 xref: GENATLAS:AMHR2 xref: HGNC:465 xref: IUPHAR:1793 xref: OMIM:600956 xref: UNIPROTKB/SWISSPROT:Q16671 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2856 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Persistent Müllerian duct syndrome property_value: alternative:term "MISR2" xsd:string property_value: alternative:term "MISRII" xsd:string property_value: alternative:term "Muellerian inhibiting substance type II receptor" xsd:string property_value: symbol "AMHR2" xsd:string [Term] id: Orphanet:119662 name: Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 xref: ENSEMBL:ENSG00000101935 xref: GENATLAS:AMMECR1 xref: HGNC:467 xref: OMIM:300195 xref: UNIPROTKB/SWISSPROT:Q9Y4X0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:86818 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis property_value: alternative:term "Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region, gene 1" xsd:string property_value: symbol "AMMECR1" xsd:string [Term] id: Orphanet:119665 name: solute carrier family 45, member 2 xref: ENSEMBL:ENSG00000164175 xref: GENATLAS:SLC45A2 xref: HGNC:16472 xref: OMIM:606202 xref: UNIPROTKB/SWISSPROT:Q9UMX9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79435 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oculocutaneous albinism type 4 property_value: alternative:term "AIM-1" xsd:string property_value: alternative:term "MATP" xsd:string property_value: alternative:term "membrane associated transporter" xsd:string property_value: alternative:term "OCA4" xsd:string property_value: symbol "SLC45A2" xsd:string [Term] id: Orphanet:119669 name: solute carrier family 4 (anion exchanger), member 1 (Diego blood group) xref: ENSEMBL:ENSG00000004939 xref: GENATLAS:SLC4A1 xref: HGNC:11027 xref: OMIM:109270 xref: REACTOME:P02730 xref: UNIPROTKB/SWISSPROT:P02730 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:822 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary spherocytosis relationship: Orphanet:317343 Orphanet:93608 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant distal renal tubular acidosis relationship: Orphanet:317343 Orphanet:93610 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Distal renal tubular acidosis with anemia relationship: Orphanet:317343 Orphanet:98868 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Southeast Asian ovalocytosis property_value: alternative:term "AE1" xsd:string property_value: alternative:term "CD233" xsd:string property_value: alternative:term "DI" xsd:string property_value: alternative:term "Diego blood group" xsd:string property_value: alternative:term "EPB3" xsd:string property_value: alternative:term "erythrocyte membrane protein band 3" xsd:string property_value: alternative:term "FR" xsd:string property_value: alternative:term "Froese blood group" xsd:string property_value: alternative:term "RTA1A" xsd:string property_value: alternative:term "solute carrier family 4 (anion exchanger), member 1" xsd:string property_value: alternative:term "Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)" xsd:string property_value: alternative:term "SW" xsd:string property_value: alternative:term "Swann blood group" xsd:string property_value: alternative:term "Waldner blood group" xsd:string property_value: alternative:term "WD" xsd:string property_value: alternative:term "WR" xsd:string property_value: alternative:term "Wright blood group" xsd:string property_value: symbol "SLC4A1" xsd:string [Term] id: Orphanet:119680 name: solute carrier family 4, sodium borate transporter, member 11 xref: ENSEMBL:ENSG00000088836 xref: GENATLAS:SLC4A11 xref: HGNC:16438 xref: OMIM:610206 xref: UNIPROTKB/SWISSPROT:Q8NBS3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1490 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Corneal dystrophy - perceptive deafness relationship: Orphanet:317343 Orphanet:293603 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital hereditary endothelial dystrophy type II relationship: Orphanet:317343 Orphanet:98974 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fuchs endothelial corneal dystrophy property_value: alternative:term "BTR1" xsd:string property_value: alternative:term "CDPD1" xsd:string property_value: alternative:term "CHED2" xsd:string property_value: alternative:term "corneal dystrophy and perceptive deafness 1" xsd:string property_value: alternative:term "corneal endothelial dystrophy 2 (autosomal recessive)" xsd:string property_value: alternative:term "dJ794I6.2" xsd:string property_value: alternative:term "NaBC1" xsd:string property_value: alternative:term "Solute carrier family 4, sodium bicarbonate transporter-like, member 11" xsd:string property_value: symbol "SLC4A11" xsd:string [Term] id: Orphanet:119685 name: solute carrier family 4 (sodium bicarbonate cotransporter), member 4 xref: ENSEMBL:ENSG00000080493 xref: GENATLAS:SLC4A4 xref: HGNC:11030 xref: OMIM:603345 xref: REACTOME:Q9Y6R1 xref: UNIPROTKB/SWISSPROT:Q9Y6R1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93607 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive proximal renal tubular acidosis property_value: alternative:term "hhNMC" xsd:string property_value: alternative:term "HNBC1" xsd:string property_value: alternative:term "NBC1" xsd:string property_value: alternative:term "NBC2" xsd:string property_value: alternative:term "pNBC" xsd:string property_value: alternative:term "SLC4A5" xsd:string property_value: alternative:term "Solute carrier family 4, sodium bicarbonate cotransporter, member 4" xsd:string property_value: symbol "SLC4A4" xsd:string [Term] id: Orphanet:119693 name: solute carrier family 5 (sodium/glucose cotransporter), member 1 xref: ENSEMBL:ENSG00000100170 xref: GENATLAS:SLC5A1 xref: HGNC:11036 xref: OMIM:182380 xref: REACTOME:P13866 xref: UNIPROTKB/SWISSPROT:P13866 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:35710 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glucose-galactose malabsorption property_value: alternative:term "D22S675" xsd:string property_value: alternative:term "NAGT" xsd:string property_value: alternative:term "SGLT1" xsd:string property_value: alternative:term "sodium/glucose cotransporter 1" xsd:string property_value: symbol "SLC5A1" xsd:string [Term] id: Orphanet:119697 name: solute carrier family 5 (sodium/glucose cotransporter), member 2 xref: ENSEMBL:ENSG00000140675 xref: GENATLAS:SLC5A2 xref: HGNC:11037 xref: OMIM:182381 xref: REACTOME:P31639 xref: UNIPROTKB/SWISSPROT:P31639 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:69076 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Renal glucosuria property_value: alternative:term "SGLT2" xsd:string property_value: symbol "SLC5A2" xsd:string [Term] id: Orphanet:119700 name: solute carrier family 5 (sodium/iodide cotransporter), member 5 xref: ENSEMBL:ENSG00000105641 xref: GENATLAS:SLC5A5 xref: HGNC:11040 xref: OMIM:601843 xref: REACTOME:Q92911 xref: UNIPROTKB/SWISSPROT:Q92911 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:95716 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial thyroid dyshormonogenesis property_value: alternative:term "NIS" xsd:string property_value: alternative:term "Solute carrier family 5 (sodium iodide symporter), member 5" xsd:string property_value: symbol "SLC5A5" xsd:string [Term] id: Orphanet:119703 name: solute carrier family 6 (neutral amino acid transporter), member 19 xref: ENSEMBL:ENSG00000174358 xref: GENATLAS:SLC6A19 xref: HGNC:27960 xref: OMIM:608893 xref: REACTOME:Q695T7 xref: UNIPROTKB/SWISSPROT:Q695T7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2116 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hartnup syndrome relationship: Orphanet:317343 Orphanet:42062 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Iminoglycinuria property_value: alternative:term "Hartnup disease" xsd:string property_value: symbol "SLC6A19" xsd:string [Term] id: Orphanet:119705 name: solute carrier family 6 (neurotransmitter transporter), member 8 xref: ENSEMBL:ENSG00000130821 xref: GENATLAS:SLC6A8 xref: HGNC:11055 xref: OMIM:300036 xref: REACTOME:P48029 xref: UNIPROTKB/SWISSPROT:P48029 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:52503 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked creatine transporter deficiency property_value: alternative:term "creatine transporter" xsd:string property_value: alternative:term "CRTR" xsd:string property_value: alternative:term "CT1" xsd:string property_value: alternative:term "Solute carrier family 6 (neurotransmitter transporter, creatine), member 8" xsd:string property_value: symbol "SLC6A8" xsd:string [Term] id: Orphanet:119709 name: solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 xref: ENSEMBL:ENSG00000155465 xref: GENATLAS:SLC7A7 xref: HGNC:11065 xref: OMIM:603593 xref: REACTOME:Q9UM01 xref: UNIPROTKB/SWISSPROT:Q9UM01 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:470 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lysinuric protein intolerance property_value: alternative:term "LPI" xsd:string property_value: alternative:term "Solute carrier family 7 (cationic amino acid transporter, y+ system), member 7" xsd:string property_value: alternative:term "y+LAT-1" xsd:string property_value: symbol "SLC7A7" xsd:string [Term] id: Orphanet:119713 name: solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 xref: ENSEMBL:ENSG00000021488 xref: GENATLAS:SLC7A9 xref: HGNC:11067 xref: OMIM:604144 xref: REACTOME:P82251 xref: UNIPROTKB/SWISSPROT:P82251 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93613 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cystinuria type B property_value: alternative:term "CSNU3" xsd:string property_value: alternative:term "Solute carrier family 7 (cationic amino acid transporter, y+ system), member 9" xsd:string property_value: symbol "SLC7A9" xsd:string [Term] id: Orphanet:119720 name: secreted LY6/PLAUR domain containing 1 xref: ENSEMBL:ENSG00000126233 xref: GENATLAS:SLURP1 xref: HGNC:18746 xref: OMIM:606119 xref: UNIPROTKB/SWISSPROT:P55000 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:87503 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mal de Meleda property_value: alternative:term "ANUP" xsd:string property_value: alternative:term "ARS" xsd:string property_value: alternative:term "ARS component B" xsd:string property_value: alternative:term "ArsB" xsd:string property_value: alternative:term "LY6LS" xsd:string property_value: alternative:term "lymphocyte antigen 6-like secreted" xsd:string property_value: alternative:term "MDM" xsd:string property_value: symbol "SLURP1" xsd:string [Term] id: Orphanet:119727 name: SMAD family member 4 xref: ENSEMBL:ENSG00000141646 xref: GENATLAS:SMAD4 xref: HGNC:6770 xref: OMIM:600993 xref: REACTOME:Q13485 xref: UNIPROTKB/SWISSPROT:Q13485 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1333 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial pancreatic carcinoma relationship: Orphanet:317343 Orphanet:2588 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myhre syndrome relationship: Orphanet:317343 Orphanet:329971 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Generalized juvenile polyposis/juvenile polyposis coli relationship: Orphanet:317343 Orphanet:774 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary hemorrhagic telangiectasia property_value: alternative:term "DPC4" xsd:string property_value: alternative:term "MAD, mothers against decapentaplegic homolog 4 (Drosophila)" xsd:string property_value: alternative:term "MADH4" xsd:string property_value: alternative:term "SMAD, mothers against DPP homolog 4 (Drosophila)" xsd:string property_value: symbol "SMAD4" xsd:string [Term] id: Orphanet:119731 name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 xref: ENSEMBL:ENSG00000138375 xref: GENATLAS:SMARCAL1 xref: HGNC:11102 xref: OMIM:606622 xref: UNIPROTKB/SWISSPROT:Q9NZC9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1830 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Schimke immuno-osseous dysplasia property_value: alternative:term "ATP-driven annealing helicase" xsd:string property_value: alternative:term "HARP" xsd:string property_value: alternative:term "HepA-related protein" xsd:string property_value: alternative:term "HHARP" xsd:string property_value: symbol "SMARCAL1" xsd:string [Term] id: Orphanet:119735 name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 xref: ENSEMBL:ENSG00000099956 xref: GENATLAS:SMARCB1 xref: HGNC:11103 xref: OMIM:601607 xref: UNIPROTKB/SWISSPROT:Q12824 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1465 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Coffin-Siris syndrome relationship: Orphanet:317343 Orphanet:231108 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial rhabdoid tumor relationship: Orphanet:317343 Orphanet:263662 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial multiple meningioma relationship: Orphanet:317343 Orphanet:93921 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Neurofibromatosis type 3 relationship: Orphanet:317344 Orphanet:99966 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atypical teratoid tumor property_value: alternative:term "BAF47" xsd:string property_value: alternative:term "hSNFS" xsd:string property_value: alternative:term "Ini1" xsd:string property_value: alternative:term "integrase interactor 1" xsd:string property_value: alternative:term "malignant rhabdoid tumor suppressor" xsd:string property_value: alternative:term "RDT" xsd:string property_value: alternative:term "Sfh1p" xsd:string property_value: alternative:term "SNF5L1" xsd:string property_value: alternative:term "Snr1" xsd:string property_value: alternative:term "sucrose nonfermenting, yeast, homolog-like 1" xsd:string property_value: symbol "SMARCB1" xsd:string [Term] id: Orphanet:119743 name: structural maintenance of chromosomes 1A xref: ENSEMBL:ENSG00000072501 xref: GENATLAS:SMC1A xref: HGNC:11111 xref: OMIM:300040 xref: REACTOME:Q14683 xref: UNIPROTKB/SWISSPROT:Q14683 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:199 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cornelia de Lange syndrome property_value: alternative:term "DXS423E" xsd:string property_value: alternative:term "KIAA0178" xsd:string property_value: alternative:term "SB1.8" xsd:string property_value: alternative:term "SMC1 (structural maintenance of chromosomes 1, yeast)-like 1" xsd:string property_value: alternative:term "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)" xsd:string property_value: alternative:term "SMC1L1" xsd:string property_value: alternative:term "Smcb" xsd:string property_value: symbol "SMC1A" xsd:string [Term] id: Orphanet:119750 name: survival of motor neuron 2, centromeric xref: ENSEMBL:ENSG00000205571 xref: GENATLAS:SMN2 xref: HGNC:11118 xref: OMIM:601627 xref: REACTOME:Q16637 xref: UNIPROTKB/SWISSPROT:Q16637 is_a: Orphanet:C010 ! gene relationship: Orphanet:317346 Orphanet:83330 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Proximal spinal muscular atrophy type 1 relationship: Orphanet:317346 Orphanet:83418 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Proximal spinal muscular atrophy type 2 relationship: Orphanet:317346 Orphanet:83419 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Proximal spinal muscular atrophy type 3 relationship: Orphanet:317346 Orphanet:83420 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Proximal spinal muscular atrophy type 4 property_value: alternative:term "BCD541" xsd:string property_value: alternative:term "GEMIN1" xsd:string property_value: alternative:term "SMNC" xsd:string property_value: alternative:term "TDRD16B" xsd:string property_value: alternative:term "tudor domain containing 16B" xsd:string property_value: symbol "SMN2" xsd:string [Term] id: Orphanet:119754 name: sphingomyelin phosphodiesterase 1, acid lysosomal xref: ENSEMBL:ENSG00000166311 xref: GENATLAS:SMPD1 xref: HGNC:11120 xref: OMIM:607608 xref: REACTOME:P17405 xref: UNIPROTKB/SWISSPROT:P17405 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:77292 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Niemann-Pick disease type A relationship: Orphanet:317343 Orphanet:77293 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Niemann-Pick disease type B property_value: alternative:term "acid sphingomyelinase" xsd:string property_value: alternative:term "ASM" xsd:string property_value: alternative:term "Sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)" xsd:string property_value: symbol "SMPD1" xsd:string [Term] id: Orphanet:119757 name: snail family zinc finger 2 xref: ENSEMBL:ENSG00000019549 xref: GENATLAS:SNAI2 xref: HGNC:11094 xref: OMIM:602150 xref: UNIPROTKB/SWISSPROT:O43623 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2884 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Piebaldism relationship: Orphanet:317343 Orphanet:895 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Waardenburg syndrome type 2 property_value: alternative:term "SLUG" xsd:string property_value: alternative:term "slug homolog, zinc finger protein (chicken)" xsd:string property_value: alternative:term "SLUGH1" xsd:string property_value: alternative:term "Snail homolog 2 (Drosophila)" xsd:string property_value: alternative:term "SNAIL2" xsd:string property_value: symbol "SNAI2" xsd:string [Term] id: Orphanet:119761 name: synaptosomal-associated protein, 29kDa xref: ENSEMBL:ENSG00000099940 xref: GENATLAS:SNAP29 xref: HGNC:11133 xref: OMIM:604202 xref: UNIPROTKB/SWISSPROT:O95721 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:66631 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CEDNIK syndrome property_value: alternative:term "CEDNIK" xsd:string property_value: alternative:term "SNAP-29" xsd:string property_value: alternative:term "soluble 29 kDa NSF attachment protein" xsd:string property_value: alternative:term "synaptosomal-associated protein, 29kD" xsd:string property_value: symbol "SNAP29" xsd:string [Term] id: Orphanet:119763 name: synuclein, alpha (non A4 component of amyloid precursor) xref: ENSEMBL:ENSG00000145335 xref: GENATLAS:SNCA xref: HGNC:11138 xref: OMIM:163890 xref: REACTOME:P37840 xref: UNIPROTKB/SWISSPROT:P37840 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171695 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Parkinsonian-pyramidal syndrome relationship: Orphanet:317343 Orphanet:2828 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Young adult-onset Parkinsonism property_value: alternative:term "alpha-synuclein" xsd:string property_value: alternative:term "NACP" xsd:string property_value: alternative:term "PARK1" xsd:string property_value: alternative:term "PARK4" xsd:string property_value: alternative:term "Parkinson disease (autosomal dominant, Lewy body) 4" xsd:string property_value: alternative:term "PD1" xsd:string property_value: symbol "SNCA" xsd:string [Term] id: Orphanet:119771 name: small nuclear ribonucleoprotein polypeptide N xref: ENSEMBL:ENSG00000128739 xref: GENATLAS:SNRPN xref: HGNC:11164 xref: OMIM:182279 xref: UNIPROTKB/SWISSPROT:P63162 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:177910 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Prader-Willi syndrome due to imprinting mutation relationship: Orphanet:317343 Orphanet:72 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Angelman syndrome relationship: Orphanet:317349 Orphanet:177901 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 relationship: Orphanet:317349 Orphanet:177904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 relationship: Orphanet:317349 Orphanet:177907 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Prader-Willi syndrome due to translocation relationship: Orphanet:317349 Orphanet:98754 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 property_value: alternative:term "HCERN3" xsd:string property_value: alternative:term "Prader-Willi syndrome chromosome region" xsd:string property_value: alternative:term "PWCR" xsd:string property_value: alternative:term "RT-LI" xsd:string property_value: alternative:term "SM protein N" xsd:string property_value: alternative:term "SM-D" xsd:string property_value: alternative:term "small nuclear ribonucleoprotein N" xsd:string property_value: alternative:term "SMN" xsd:string property_value: alternative:term "SNRNP-N" xsd:string property_value: alternative:term "SNURF-SNRPN" xsd:string property_value: alternative:term "tissue-specific splicing protein" xsd:string property_value: symbol "SNRPN" xsd:string [Term] id: Orphanet:119773 name: sorting nexin 3 xref: ENSEMBL:ENSG00000112335 xref: GENATLAS:SNX3 xref: HGNC:11174 xref: OMIM:605930 xref: REACTOME:O60493 xref: UNIPROTKB/SWISSPROT:O60493 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3434 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MMEP syndrome property_value: alternative:term "Grd19" xsd:string property_value: symbol "SNX3" xsd:string [Term] id: Orphanet:119776 name: superoxide dismutase 1, soluble xref: ENSEMBL:ENSG00000142168 xref: GENATLAS:SOD1 xref: HGNC:11179 xref: OMIM:147450 xref: REACTOME:P00441 xref: UNIPROTKB/SWISSPROT:P00441 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis property_value: alternative:term "ALS" xsd:string property_value: alternative:term "ALS1" xsd:string property_value: alternative:term "amyotrophic lateral sclerosis 1 (adult)" xsd:string property_value: alternative:term "IPOA" xsd:string property_value: alternative:term "Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult))" xsd:string property_value: symbol "SOD1" xsd:string [Term] id: Orphanet:119781 name: son of sevenless homolog 1 (Drosophila) xref: ENSEMBL:ENSG00000115904 xref: GENATLAS:SOS1 xref: HGNC:11187 xref: OMIM:182530 xref: REACTOME:Q07889 xref: UNIPROTKB/SWISSPROT:Q07889 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2024 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary gingival fibromatosis relationship: Orphanet:317343 Orphanet:648 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Noonan syndrome property_value: alternative:term "GF1" xsd:string property_value: alternative:term "GINGF" xsd:string property_value: alternative:term "gingival fibromatosis, hereditary, 1" xsd:string property_value: alternative:term "HGF" xsd:string property_value: symbol "SOS1" xsd:string [Term] id: Orphanet:119786 name: SRY (sex determining region Y)-box 10 xref: ENSEMBL:ENSG00000100146 xref: GENATLAS:SOX10 xref: HGNC:11190 xref: OMIM:602229 xref: UNIPROTKB/SWISSPROT:P56693 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:163746 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neurologic Waardenburg-Shah syndrome relationship: Orphanet:317343 Orphanet:478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kallmann syndrome relationship: Orphanet:317343 Orphanet:895 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Waardenburg syndrome type 2 relationship: Orphanet:317343 Orphanet:897 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Waardenburg-Shah syndrome property_value: alternative:term "DOM" xsd:string property_value: alternative:term "dominant megacolon, mouse, human homolog of" xsd:string property_value: alternative:term "WS2E" xsd:string property_value: alternative:term "WS4" xsd:string property_value: symbol "SOX10" xsd:string [Term] id: Orphanet:119788 name: SRY (sex determining region Y)-box 18 xref: ENSEMBL:ENSG00000203883 xref: GENATLAS:SOX18 xref: HGNC:11194 xref: OMIM:601618 xref: UNIPROTKB/SWISSPROT:P35713 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:69735 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypotrichosis - lymphedema - telangiectasia property_value: symbol "SOX18" xsd:string [Term] id: Orphanet:119790 name: SRY (sex determining region Y)-box 2 xref: ENSEMBL:ENSG00000181449 xref: GENATLAS:SOX2 xref: HGNC:11195 xref: OMIM:184429 xref: UNIPROTKB/SWISSPROT:P48431 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2542 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated anophthalmia - microphthalmia relationship: Orphanet:317343 Orphanet:3157 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Septo-optic dysplasia relationship: Orphanet:317343 Orphanet:77298 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Anophthalmia/microphthalmia - esophageal atresia relationship: Orphanet:317343 Orphanet:98938 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Colobomatous microphthalmia property_value: symbol "SOX2" xsd:string [Term] id: Orphanet:119792 name: SRY (sex determining region Y)-box 9 xref: ENSEMBL:ENSG00000125398 xref: GENATLAS:SOX9 xref: HGNC:11204 xref: OMIM:608160 xref: UNIPROTKB/SWISSPROT:P48436 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:140 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Campomelic dysplasia relationship: Orphanet:317343 Orphanet:2138 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 46,XX ovotesticular disorder of sex development relationship: Orphanet:317343 Orphanet:393 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XX testicular disorder of sex development property_value: alternative:term "campomelic dysplasia, autosomal sex-reversal" xsd:string property_value: alternative:term "CMD1" xsd:string property_value: alternative:term "CMPD1" xsd:string property_value: alternative:term "SRA1" xsd:string property_value: symbol "SOX9" xsd:string [Term] id: Orphanet:119797 name: SP110 nuclear body protein xref: ENSEMBL:ENSG00000135899 xref: GENATLAS:SP110 xref: HGNC:5401 xref: OMIM:604457 xref: UNIPROTKB/SWISSPROT:Q9HB58 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79124 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hepatic veno-occlusive disease - immunodeficiency property_value: alternative:term "IFI41" xsd:string property_value: alternative:term "IFI75" xsd:string property_value: alternative:term "interferon-induced protein 41, 30kD" xsd:string property_value: symbol "SP110" xsd:string [Term] id: Orphanet:1198 name: Colonic atresia xref: ICD10:Q42.9 xref: OMIM:303650 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:108967 ! Nonsyndromic intestinal malformation property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns." xsd:string [Term] id: Orphanet:119801 name: spastin xref: ENSEMBL:ENSG00000021574 xref: GENATLAS:SPAST xref: HGNC:11233 xref: OMIM:604277 xref: UNIPROTKB/SWISSPROT:Q9UBP0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100985 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant spastic paraplegia type 4 property_value: alternative:term "ADPSP" xsd:string property_value: alternative:term "FSP2" xsd:string property_value: alternative:term "KIAA1083" xsd:string property_value: alternative:term "spastic paraplegia 4 (autosomal dominant; spastin)" xsd:string property_value: alternative:term "SPG4" xsd:string property_value: symbol "SPAST" xsd:string [Term] id: Orphanet:119807 name: spastic paraplegia 11 (autosomal recessive) xref: ENSEMBL:ENSG00000104133 xref: GENATLAS:SPG11 xref: HGNC:11226 xref: OMIM:610844 xref: UNIPROTKB/SWISSPROT:Q96JI7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2822 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 11 relationship: Orphanet:317343 Orphanet:300605 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juvenile amyotrophic lateral sclerosis property_value: alternative:term "FLJ21439" xsd:string property_value: alternative:term "KIAA1840" xsd:string property_value: alternative:term "spatacsin" xsd:string property_value: symbol "SPG11" xsd:string [Term] id: Orphanet:119811 name: spastic paraplegia 20 (Troyer syndrome) xref: ENSEMBL:ENSG00000133104 xref: GENATLAS:SPG20 xref: HGNC:18514 xref: OMIM:607111 xref: UNIPROTKB/SWISSPROT:Q8N0X7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101000 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 20 property_value: alternative:term "KIAA0610" xsd:string property_value: alternative:term "spartin" xsd:string property_value: alternative:term "TAHCCP1" xsd:string property_value: symbol "SPG20" xsd:string [Term] id: Orphanet:119815 name: spastic paraplegia 21 (autosomal recessive, Mast syndrome) xref: ENSEMBL:ENSG00000090487 xref: GENATLAS:SPG21 xref: HGNC:20373 xref: OMIM:608181 xref: UNIPROTKB/SWISSPROT:Q9NZD8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101001 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 21 property_value: alternative:term "ACP33" xsd:string property_value: alternative:term "BM-019" xsd:string property_value: alternative:term "GL010" xsd:string property_value: alternative:term "maspardin" xsd:string property_value: alternative:term "MAST" xsd:string property_value: symbol "SPG21" xsd:string [Term] id: Orphanet:119821 name: atlastin GTPase 1 xref: ENSEMBL:ENSG00000198513 xref: GENATLAS:SPG3A xref: HGNC:11231 xref: OMIM:606439 xref: UNIPROTKB/SWISSPROT:Q8WXF7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100984 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant spastic paraplegia type 3 relationship: Orphanet:317343 Orphanet:36386 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary sensory and autonomic neuropathy type 1 property_value: alternative:term "AD-FSP" xsd:string property_value: alternative:term "ATL1" xsd:string property_value: alternative:term "atlastin" xsd:string property_value: alternative:term "atlastin1" xsd:string property_value: alternative:term "FSP1" xsd:string property_value: alternative:term "spastic paraplegia 3A (autosomal dominant)" xsd:string property_value: alternative:term "SPG3" xsd:string property_value: alternative:term "SPG3A" xsd:string property_value: symbol "ATL1" xsd:string [Term] id: Orphanet:119829 name: spastic paraplegia 7 (pure and complicated autosomal recessive) xref: ENSEMBL:ENSG00000197912 xref: GENATLAS:SPG7 xref: HGNC:11237 xref: OMIM:602783 xref: UNIPROTKB/SWISSPROT:Q9UQ90 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:250932 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant optic atrophy and peripheral neuropathy relationship: Orphanet:317343 Orphanet:99013 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 7 property_value: alternative:term "CAR" xsd:string property_value: alternative:term "cell matrix adhesion regulator" xsd:string property_value: alternative:term "CMAR" xsd:string property_value: alternative:term "paraplegin" xsd:string property_value: alternative:term "SPG5C" xsd:string property_value: symbol "SPG7" xsd:string [Term] id: Orphanet:119834 name: serine peptidase inhibitor, Kazal type 1 xref: ENSEMBL:ENSG00000164266 xref: GENATLAS:SPINK1 xref: HGNC:11244 xref: OMIM:167790 xref: UNIPROTKB/SWISSPROT:P00995 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:676 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary chronic pancreatitis relationship: Orphanet:317345 Orphanet:103918 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tropical pancreatitis property_value: alternative:term "PCTT" xsd:string property_value: alternative:term "PSTI" xsd:string property_value: alternative:term "serine protease inhibitor, Kazal type 1" xsd:string property_value: alternative:term "Spink3" xsd:string property_value: alternative:term "TATI" xsd:string property_value: symbol "SPINK1" xsd:string [Term] id: Orphanet:119840 name: serine peptidase inhibitor, Kazal type 5 xref: ENSEMBL:ENSG00000133710 xref: GENATLAS:SPINK5 xref: HGNC:15464 xref: OMIM:605010 xref: UNIPROTKB/SWISSPROT:Q9NQ38 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:634 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Netherton syndrome property_value: alternative:term "DKFZp686K19184" xsd:string property_value: alternative:term "FLJ21544" xsd:string property_value: alternative:term "FLJ97536" xsd:string property_value: alternative:term "FLJ97596" xsd:string property_value: alternative:term "FLJ99794" xsd:string property_value: alternative:term "LEKTI" xsd:string property_value: alternative:term "LETKI" xsd:string property_value: alternative:term "lymphoepithelial Kazal-type-related inhibitor" xsd:string property_value: alternative:term "NETS" xsd:string property_value: alternative:term "NS" xsd:string property_value: alternative:term "serine protease inhibitor, Kazal type 5" xsd:string property_value: alternative:term "VAKTI" xsd:string property_value: symbol "SPINK5" xsd:string [Term] id: Orphanet:119844 name: sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) xref: ENSEMBL:ENSG00000116096 xref: GENATLAS:SPR xref: HGNC:11257 xref: OMIM:182125 xref: REACTOME:P35270 xref: UNIPROTKB/SWISSPROT:P35270 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:70594 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dopa-responsive dystonia due to sepiapterin reductase deficiency property_value: alternative:term "SDR38C1" xsd:string property_value: alternative:term "short chain dehydrogenase/reductase family 38C, member 1" xsd:string property_value: symbol "SPR" xsd:string [Term] id: Orphanet:119846 name: spectrin, alpha, erythrocytic 1 (elliptocytosis 2) xref: ENSEMBL:ENSG00000163554 xref: GENATLAS:SPTA1 xref: HGNC:11272 xref: OMIM:182860 xref: REACTOME:P02549 xref: UNIPROTKB/SWISSPROT:P02549 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:822 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary spherocytosis relationship: Orphanet:317343 Orphanet:98864 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Common hereditary elliptocytosis relationship: Orphanet:317343 Orphanet:98867 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary pyropoikilocytosis property_value: alternative:term "EL2" xsd:string property_value: symbol "SPTA1" xsd:string [Term] id: Orphanet:119849 name: spectrin, beta, erythrocytic xref: ENSEMBL:ENSG00000070182 xref: GENATLAS:SPTB xref: HGNC:11274 xref: OMIM:182870 xref: REACTOME:P11277 xref: UNIPROTKB/SWISSPROT:P11277 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:822 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary spherocytosis relationship: Orphanet:317343 Orphanet:98864 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Common hereditary elliptocytosis relationship: Orphanet:317343 Orphanet:98866 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Spherocytic elliptocytosis relationship: Orphanet:317343 Orphanet:98867 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary pyropoikilocytosis property_value: alternative:term "Spectrin, beta, erythrocytic (includes spherocytosis, clinical type I)" xsd:string property_value: alternative:term "spherocytosis, clinical type I" xsd:string property_value: symbol "SPTB" xsd:string [Term] id: Orphanet:119851 name: spectrin, beta, non-erythrocytic 2 xref: ENSEMBL:ENSG00000173898 xref: GENATLAS:SPTBN2 xref: HGNC:11276 xref: OMIM:604985 xref: REACTOME:O15020 xref: UNIPROTKB/SWISSPROT:O15020 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352403 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spectrin-associated autosomal recessive cerebellar ataxia relationship: Orphanet:317343 Orphanet:98766 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 5 property_value: alternative:term "SCA5" xsd:string property_value: alternative:term "spinocerebellar ataxia 5" xsd:string property_value: symbol "SPTBN2" xsd:string [Term] id: Orphanet:119854 name: serine palmitoyltransferase, long chain base subunit 1 xref: ENSEMBL:ENSG00000090054 xref: GENATLAS:SPTLC1 xref: HGNC:11277 xref: OMIM:605712 xref: REACTOME:O15269 xref: UNIPROTKB/SWISSPROT:O15269 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:36386 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary sensory and autonomic neuropathy type 1 property_value: alternative:term "hereditary sensory neuropathy, type 1" xsd:string property_value: alternative:term "hLCB1" xsd:string property_value: alternative:term "HSAN1" xsd:string property_value: alternative:term "HSN1" xsd:string property_value: alternative:term "LCB1" xsd:string property_value: alternative:term "SPTI" xsd:string property_value: symbol "SPTLC1" xsd:string [Term] id: Orphanet:119860 name: steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) xref: ENSEMBL:ENSG00000049319 xref: GENATLAS:SRD5A2 xref: HGNC:11285 xref: IUPHAR:2633 xref: OMIM:607306 xref: REACTOME:P31213 xref: UNIPROTKB/SWISSPROT:P31213 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1331 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial prostate cancer relationship: Orphanet:317343 Orphanet:753 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency property_value: symbol "SRD5A2" xsd:string [Term] id: Orphanet:119862 name: sushi-repeat containing protein, X-linked 2 xref: ENSEMBL:ENSG00000102359 xref: GENATLAS:SRPX2 xref: HGNC:30668 xref: OMIM:300642 xref: UNIPROTKB/SWISSPROT:O60687 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:163721 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rolandic epilepsy - speech dyspraxia relationship: Orphanet:317343 Orphanet:1945 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Benign familial epilepsy of childhood with rolandic spikes relationship: Orphanet:317343 Orphanet:98889 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bilateral perisylvian polymicrogyria property_value: alternative:term "SRPUL" xsd:string property_value: alternative:term "Sushi-repeat-containing protein, X-linked 2" xsd:string property_value: symbol "SRPX2" xsd:string [Term] id: Orphanet:119865 name: sex determining region Y xref: ENSEMBL:ENSG00000184895 xref: GENATLAS:SRY xref: HGNC:11311 xref: OMIM:480000 xref: UNIPROTKB/SWISSPROT:Q05066 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1772 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 45,X/46,XY mixed gonadal dysgenesis relationship: Orphanet:317343 Orphanet:2138 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 46,XX ovotesticular disorder of sex development relationship: Orphanet:317343 Orphanet:242 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XY complete gonadal dysgenesis relationship: Orphanet:317343 Orphanet:251510 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XY partial gonadal dysgenesis relationship: Orphanet:317343 Orphanet:393 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XX testicular disorder of sex development relationship: Orphanet:317343 Orphanet:983 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Testicular regression syndrome property_value: alternative:term "TDF" xsd:string property_value: alternative:term "testis-determining factor" xsd:string property_value: symbol "SRY" xsd:string [Term] id: Orphanet:119868 name: synovial sarcoma translocation, chromosome 18 xref: ENSEMBL:ENSG00000141380 xref: GENATLAS:SS18 xref: HGNC:11340 xref: OMIM:600192 xref: UNIPROTKB/SWISSPROT:Q15532 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:3273 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Synovial sarcoma property_value: alternative:term "SSXT" xsd:string property_value: alternative:term "SYT" xsd:string property_value: symbol "SS18" xsd:string [Term] id: Orphanet:119874 name: synovial sarcoma, X breakpoint 1 xref: ENSEMBL:ENSG00000126752 xref: GENATLAS:SSX1 xref: HGNC:11335 xref: OMIM:312820 xref: UNIPROTKB/SWISSPROT:Q16384 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:3273 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Synovial sarcoma property_value: alternative:term "cancer/testis antigen family 5, member 1" xsd:string property_value: alternative:term "CT5.1" xsd:string property_value: symbol "SSX1" xsd:string [Term] id: Orphanet:119876 name: steroidogenic acute regulatory protein xref: ENSEMBL:ENSG00000147465 xref: GENATLAS:STAR xref: HGNC:11359 xref: OMIM:600617 xref: REACTOME:P49675 xref: UNIPROTKB/SWISSPROT:P49675 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:325524 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Classic congenital lipoid adrenal hyperplasia due to STAR deficency relationship: Orphanet:317343 Orphanet:325529 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency relationship: Orphanet:317343 Orphanet:361 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial glucocorticoid deficiency property_value: alternative:term "StAR" xsd:string property_value: alternative:term "StAR-related lipid transfer (START) domain containing 1" xsd:string property_value: alternative:term "STARD1" xsd:string property_value: alternative:term "steroidogenic acute regulator" xsd:string property_value: symbol "STAR" xsd:string [Term] id: Orphanet:119879 name: signal transducer and activator of transcription 1, 91kDa xref: ENSEMBL:ENSG00000115415 xref: GENATLAS:STAT1 xref: HGNC:11362 xref: OMIM:600555 xref: REACTOME:P42224 xref: UNIPROTKB/SWISSPROT:P42224 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chronic mucocutaneous candidiasis relationship: Orphanet:317343 Orphanet:319595 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency property_value: alternative:term "ISGF-3" xsd:string property_value: alternative:term "signal transducer and activator of transcription 1, 91kD" xsd:string property_value: alternative:term "STAT91" xsd:string property_value: alternative:term "transcription factor ISGF-3 components p91/p84" xsd:string property_value: symbol "STAT1" xsd:string [Term] id: Orphanet:119882 name: signal transducer and activator of transcription 5B xref: ENSEMBL:ENSG00000173757 xref: GENATLAS:STAT5B xref: HGNC:11367 xref: OMIM:604260 xref: REACTOME:P51692 xref: UNIPROTKB/SWISSPROT:P51692 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220465 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Laron syndrome with immunodeficiency property_value: symbol "STAT5B" xsd:string [Term] id: Orphanet:119884 name: serine/threonine kinase 11 xref: ENSEMBL:ENSG00000118046 xref: GENATLAS:STK11 xref: HGNC:11389 xref: IUPHAR:2212 xref: OMIM:602216 xref: REACTOME:Q15831 xref: UNIPROTKB/SWISSPROT:Q15831 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2869 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Peutz-Jeghers syndrome property_value: alternative:term "LKB1" xsd:string property_value: alternative:term "PJS" xsd:string property_value: alternative:term "polarization-related protein LKB1" xsd:string property_value: alternative:term "serine/threonine kinase 11 (Peutz-Jeghers syndrome)" xsd:string property_value: symbol "STK11" xsd:string [Term] id: Orphanet:119888 name: steroid sulfatase (microsomal), isozyme S xref: ENSEMBL:ENSG00000101846 xref: GENATLAS:STS xref: HGNC:11425 xref: OMIM:300747 xref: REACTOME:P08842 xref: UNIPROTKB/SWISSPROT:P08842 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:461 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Recessive X-linked ichthyosis relationship: Orphanet:317349 Orphanet:281090 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Syndromic X-linked ichthyosis property_value: alternative:term "ARSC" xsd:string property_value: alternative:term "ARSC1" xsd:string property_value: alternative:term "arylsulfatase C" xsd:string property_value: alternative:term "steroid sulfatase (microsomal), arylsulfatase C, isozyme S" xsd:string property_value: symbol "STS" xsd:string [Term] id: Orphanet:119892 name: syntaxin 11 xref: ENSEMBL:ENSG00000135604 xref: GENATLAS:STX11 xref: HGNC:11429 xref: OMIM:605014 xref: REACTOME:O75558 xref: UNIPROTKB/SWISSPROT:O75558 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:540 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hemophagocytic lymphohistiocytosis property_value: symbol "STX11" xsd:string [Term] id: Orphanet:119894 name: succinate-CoA ligase, ADP-forming, beta subunit xref: ENSEMBL:ENSG00000136143 xref: GENATLAS:SUCLA2 xref: HGNC:11448 xref: OMIM:603921 xref: REACTOME:Q9P2R7 xref: UNIPROTKB/SWISSPROT:Q9P2R7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1933 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria property_value: symbol "SUCLA2" xsd:string [Term] id: Orphanet:119896 name: suppressor of fused homolog (Drosophila) xref: ENSEMBL:ENSG00000107882 xref: GENATLAS:SUFU xref: HGNC:16466 xref: OMIM:607035 xref: UNIPROTKB/SWISSPROT:Q9UMX1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:251858 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Medulloblastoma with extensive nodularity relationship: Orphanet:317345 Orphanet:251863 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Desmoplastic/nodular medulloblastoma relationship: Orphanet:317345 Orphanet:263662 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial multiple meningioma property_value: alternative:term "PRO1280" xsd:string property_value: alternative:term "SUFUH" xsd:string property_value: alternative:term "SUFUXL" xsd:string property_value: symbol "SUFU" xsd:string [Term] id: Orphanet:119899 name: sulfatase modifying factor 1 xref: ENSEMBL:ENSG00000144455 xref: GENATLAS:SUMF1 xref: HGNC:20376 xref: OMIM:607939 xref: REACTOME:Q8NBK3 xref: UNIPROTKB/SWISSPROT:Q8NBK3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:585 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple sulfatase deficiency property_value: alternative:term "FGE" xsd:string property_value: alternative:term "UNQ3037" xsd:string property_value: symbol "SUMF1" xsd:string [Term] id: Orphanet:1199 name: Esophageal atresia xref: ICD10:Q39.0 xref: ICD10:Q39.1 xref: MEDDRA:10021530 xref: MEDDRA:10030146 xref: MESH:D004933 xref: OMIM:189960 xref: SNOMED CT:204656005 xref: SNOMED CT:26179002 xref: UMLS:C0014850 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:108959 ! Nonsyndromic esophageal malformation [Term] id: Orphanet:119902 name: sulfite oxidase xref: ENSEMBL:ENSG00000139531 xref: GENATLAS:SUOX xref: HGNC:11460 xref: OMIM:606887 xref: REACTOME:P51687 xref: UNIPROTKB/SWISSPROT:P51687 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99731 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated sulfite oxidase deficiency property_value: symbol "SUOX" xsd:string [Term] id: Orphanet:119904 name: surfeit 1 xref: ENSEMBL:ENSG00000148290 xref: GENATLAS:SURF1 xref: HGNC:11474 xref: OMIM:185620 xref: UNIPROTKB/SWISSPROT:Q15526 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1561 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fatal infantile cytochrome C oxidase deficiency relationship: Orphanet:317343 Orphanet:255241 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with leukodystrophy relationship: Orphanet:317343 Orphanet:70474 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with cardiomyopathy property_value: alternative:term "surfeit locus protein 1" xsd:string property_value: symbol "SURF1" xsd:string [Term] id: Orphanet:119906 name: synapsin I xref: ENSEMBL:ENSG00000008056 xref: GENATLAS:SYN1 xref: HGNC:11494 xref: OMIM:313440 xref: REACTOME:P17600 xref: UNIPROTKB/SWISSPROT:P17600 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:85294 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked epilepsy - learning disabilities - behavior disorders property_value: symbol "SYN1" xsd:string [Term] id: Orphanet:119908 name: T, brachyury homolog (mouse) xref: ENSEMBL:ENSG00000164458 xref: GENATLAS:T xref: HGNC:11515 xref: OMIM:601397 xref: UNIPROTKB/SWISSPROT:O15178 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:178 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chordoma relationship: Orphanet:317345 Orphanet:268377 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Total spina bifida aperta relationship: Orphanet:317345 Orphanet:268384 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thoracolumbosacral spina bifida aperta relationship: Orphanet:317345 Orphanet:268388 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lumbosacral spina bifida aperta relationship: Orphanet:317345 Orphanet:268392 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervical spina bifida aperta relationship: Orphanet:317345 Orphanet:268397 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervicothoracic spina bifida aperta relationship: Orphanet:317345 Orphanet:268740 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Upper thoracic spina bifida aperta relationship: Orphanet:317345 Orphanet:268748 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Total spina bifida cystica relationship: Orphanet:317345 Orphanet:268752 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thoracolumbosacral spina bifida cystica relationship: Orphanet:317345 Orphanet:268758 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lumbosacral spina bifida cystica relationship: Orphanet:317345 Orphanet:268762 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervical spina bifida cystica relationship: Orphanet:317345 Orphanet:268766 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervicothoracic spina bifida cystica relationship: Orphanet:317345 Orphanet:268770 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Upper thoracic spina bifida cystica property_value: alternative:term "T brachyury (mouse) homolog" xsd:string property_value: symbol "T" xsd:string [Term] id: Orphanet:119910 name: tumor-associated calcium signal transducer 2 xref: ENSEMBL:ENSG00000184292 xref: GENATLAS:TACSTD2 xref: HGNC:11530 xref: OMIM:137290 xref: UNIPROTKB/SWISSPROT:P09758 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98957 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gelatinous drop-like corneal dystrophy relationship: Orphanet:317343 Orphanet:98958 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Honey-droplet corneal dystrophy property_value: alternative:term "EGP-1" xsd:string property_value: alternative:term "GA733-1" xsd:string property_value: alternative:term "M1S1" xsd:string property_value: alternative:term "TROP2" xsd:string property_value: symbol "TACSTD2" xsd:string [Term] id: Orphanet:119916 name: T-cell acute lymphocytic leukemia 1 xref: ENSEMBL:ENSG00000162367 xref: GENATLAS:TAL1 xref: HGNC:11556 xref: OMIM:187040 xref: UNIPROTKB/SWISSPROT:P17542 is_a: Orphanet:C010 ! gene relationship: Orphanet:317344 Orphanet:99861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor T-cell acute lymphoblastic leukemia property_value: alternative:term "bHLHa17" xsd:string property_value: alternative:term "SCL" xsd:string property_value: alternative:term "TCL5" xsd:string property_value: symbol "TAL1" xsd:string [Term] id: Orphanet:119922 name: transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) xref: ENSEMBL:ENSG00000204267 xref: GENATLAS:TAP2 xref: HGNC:44 xref: OMIM:170261 xref: REACTOME:Q03519 xref: UNIPROTKB/SWISSPROT:Q03519 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:34592 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency by defective expression of HLA class 1 property_value: alternative:term "ABCB3" xsd:string property_value: alternative:term "D6S217E" xsd:string property_value: alternative:term "PSF2" xsd:string property_value: alternative:term "RING11" xsd:string property_value: symbol "TAP2" xsd:string [Term] id: Orphanet:119928 name: tyrosine aminotransferase xref: ENSEMBL:ENSG00000198650 xref: GENATLAS:TAT xref: HGNC:11573 xref: OMIM:613018 xref: REACTOME:P17735 xref: UNIPROTKB/SWISSPROT:P17735 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:28378 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tyrosinemia type 2 property_value: symbol "TAT" xsd:string [Term] id: Orphanet:119930 name: tafazzin xref: ENSEMBL:ENSG00000102125 xref: GENATLAS:TAZ xref: HGNC:11577 xref: OMIM:300394 xref: REACTOME:Q16635 xref: UNIPROTKB/SWISSPROT:Q16635 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:111 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Barth syndrome relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317345 Orphanet:54260 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Left ventricular noncompaction property_value: alternative:term "'Tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome)'" xsd:string property_value: alternative:term "Barth syndrome" xsd:string property_value: alternative:term "BTHS" xsd:string property_value: alternative:term "cardiomyopathy, dilated 3A (X-linked)" xsd:string property_value: alternative:term "CMD3A" xsd:string property_value: alternative:term "EFE" xsd:string property_value: alternative:term "EFE2" xsd:string property_value: alternative:term "endocardial fibroelastosis 2" xsd:string property_value: alternative:term "G4.5" xsd:string property_value: alternative:term "XAP-2" xsd:string property_value: symbol "TAZ" xsd:string [Term] id: Orphanet:119938 name: tubulin folding cofactor E xref: ENSEMBL:ENSG00000116957 xref: GENATLAS:TBCE xref: HGNC:11582 xref: OMIM:604934 xref: REACTOME:Q15813 xref: UNIPROTKB/SWISSPROT:Q15813 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2323 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sanjad-Sakati syndrome relationship: Orphanet:317343 Orphanet:93324 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive Kenny-Caffey syndrome property_value: alternative:term "HRD" xsd:string property_value: alternative:term "KCS" xsd:string property_value: alternative:term "KCS1" xsd:string property_value: alternative:term "Kenny-Caffey syndrome" xsd:string property_value: alternative:term "pac2" xsd:string property_value: alternative:term "tubulin-specific chaperone e" xsd:string property_value: symbol "TBCE" xsd:string [Term] id: Orphanet:119944 name: transducin (beta)-like 2 xref: ENSEMBL:ENSG00000106638 xref: GENATLAS:TBL2 xref: HGNC:11586 xref: OMIM:605842 xref: UNIPROTKB/SWISSPROT:Q9Y4P3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Williams syndrome property_value: alternative:term "DKFZP43N024" xsd:string property_value: alternative:term "WBSCR13" xsd:string property_value: alternative:term "Williams-Beuren syndrome chromosome region 13" xsd:string property_value: alternative:term "WS-betaTRP" xsd:string property_value: symbol "TBL2" xsd:string [Term] id: Orphanet:119948 name: TATA box binding protein xref: ENSEMBL:ENSG00000112592 xref: GENATLAS:TBP xref: HGNC:11588 xref: OMIM:600075 xref: REACTOME:P20226 xref: UNIPROTKB/SWISSPROT:P20226 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98759 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 17 property_value: alternative:term "GTF2D1" xsd:string property_value: alternative:term "SCA17" xsd:string property_value: alternative:term "TFIID" xsd:string property_value: symbol "TBP" xsd:string [Term] id: Orphanet:119953 name: T-box 1 xref: ENSEMBL:ENSG00000184058 xref: GENATLAS:TBX1 xref: HGNC:11592 xref: OMIM:602054 xref: UNIPROTKB/SWISSPROT:O43435 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:567 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 22q11.2 deletion syndrome relationship: Orphanet:317349 Orphanet:1727 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 22q11.2 microduplication syndrome relationship: Orphanet:317349 Orphanet:567 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 22q11.2 deletion syndrome property_value: symbol "TBX1" xsd:string [Term] id: Orphanet:119955 name: T-box 19 xref: ENSEMBL:ENSG00000143178 xref: GENATLAS:TBX19 xref: HGNC:11596 xref: OMIM:604614 xref: UNIPROTKB/SWISSPROT:O60806 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:199296 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital isolated ACTH deficiency property_value: alternative:term "dj747L4.1" xsd:string property_value: alternative:term "TBS 19" xsd:string property_value: alternative:term "TPIT" xsd:string property_value: symbol "TBX19" xsd:string [Term] id: Orphanet:119959 name: T-box 22 xref: ENSEMBL:ENSG00000122145 xref: GENATLAS:TBX22 xref: HGNC:11600 xref: OMIM:300307 xref: UNIPROTKB/SWISSPROT:Q9Y458 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:324601 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked cleft palate and ankyloglossia relationship: Orphanet:317343 Orphanet:921 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Abruzzo-Erickson syndrome property_value: alternative:term "cleft palate and/or ankyloglossia" xsd:string property_value: alternative:term "CLPA" xsd:string property_value: alternative:term "CPX" xsd:string property_value: symbol "TBX22" xsd:string [Term] id: Orphanet:119961 name: T-box 3 xref: ENSEMBL:ENSG00000135111 xref: GENATLAS:TBX3 xref: HGNC:11602 xref: OMIM:601621 xref: UNIPROTKB/SWISSPROT:O15119 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3138 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ulnar-mammary syndrome property_value: alternative:term "T-box 3 (ulnar mammary syndrome)" xsd:string property_value: alternative:term "TBX3-ISO" xsd:string property_value: alternative:term "ulnar mammary syndrome" xsd:string property_value: alternative:term "UMS" xsd:string property_value: alternative:term "XHL" xsd:string property_value: symbol "TBX3" xsd:string [Term] id: Orphanet:119966 name: T-box 4 xref: ENSEMBL:ENSG00000121075 xref: GENATLAS:TBX4 xref: HGNC:11603 xref: OMIM:601719 xref: UNIPROTKB/SWISSPROT:P57082 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1509 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Coxo-podo-patellar syndrome relationship: Orphanet:317343 Orphanet:275777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Heritable pulmonary arterial hypertension relationship: Orphanet:317349 Orphanet:238578 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial clubfoot due to 17q23.1q23.2 microduplication relationship: Orphanet:317349 Orphanet:261279 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 17q23.1q23.2 microdeletion syndrome property_value: symbol "TBX4" xsd:string [Term] id: Orphanet:119968 name: T-box 5 xref: ENSEMBL:ENSG00000089225 xref: GENATLAS:TBX5 xref: HGNC:11604 xref: OMIM:601620 xref: REACTOME:Q99593 xref: UNIPROTKB/SWISSPROT:Q99593 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:392 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Holt-Oram syndrome property_value: alternative:term "HOS" xsd:string property_value: symbol "TBX5" xsd:string [Term] id: Orphanet:119971 name: titin-cap xref: ENSEMBL:ENSG00000173991 xref: GENATLAS:TCAP xref: HGNC:11610 xref: OMIM:604488 xref: REACTOME:O15273 xref: UNIPROTKB/SWISSPROT:O15273 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317343 Orphanet:34514 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive limb-girdle muscular dystrophy type 2G property_value: alternative:term "19 kDa sarcomeric protein" xsd:string property_value: alternative:term "CMD1N" xsd:string property_value: alternative:term "LGMD2G" xsd:string property_value: alternative:term "limb girdle muscular dystrophy 2G (autosomal recessive)" xsd:string property_value: alternative:term "T-cap" xsd:string property_value: alternative:term "TELE" xsd:string property_value: alternative:term "telethonin" xsd:string property_value: alternative:term "Titin-cap (telethonin)" xsd:string property_value: symbol "TCAP" xsd:string [Term] id: Orphanet:119990 name: T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 xref: ENSEMBL:ENSG00000110719 xref: GENATLAS:TCIRG1 xref: HGNC:11647 xref: OMIM:604592 xref: REACTOME:Q13488 xref: UNIPROTKB/SWISSPROT:Q13488 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:667 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive malignant osteopetrosis property_value: alternative:term "a3" xsd:string property_value: alternative:term "Atp6i" xsd:string property_value: alternative:term "ATP6N1C" xsd:string property_value: alternative:term "ATP6V0A3" xsd:string property_value: alternative:term "OC-116" xsd:string property_value: alternative:term "OC116" xsd:string property_value: alternative:term "T-cell immune response cDNA 7" xsd:string property_value: alternative:term "T-cell, immune regulator 1" xsd:string property_value: alternative:term "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3" xsd:string property_value: alternative:term "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3" xsd:string property_value: alternative:term "TIRC7" xsd:string property_value: symbol "TCIRG1" xsd:string [Term] id: Orphanet:119999 name: transcobalamin II xref: ENSEMBL:ENSG00000185339 xref: GENATLAS:TCN2 xref: HGNC:11653 xref: OMIM:613441 xref: REACTOME:P20062 xref: UNIPROTKB/SWISSPROT:P20062 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:859 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Transcobalamin deficiency property_value: alternative:term "'Transcobalamin II; macrocytic anemia'" xsd:string property_value: alternative:term "D22S676" xsd:string property_value: alternative:term "D22S750" xsd:string property_value: alternative:term "macrocytic anemia" xsd:string property_value: alternative:term "TC2" xsd:string property_value: alternative:term "transcobalamin II; macrocytic anemia" xsd:string property_value: symbol "TCN2" xsd:string [Term] id: Orphanet:1200 name: Choanal atresia - deafness - cardiac defects - dysmorphism xref: ICD10:Q87.8 xref: OMIM:608572 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:156246 ! Nose and cavum anomaly relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Burn-McKeown syndrome" xsd:string [Term] id: Orphanet:120003 name: Treacher Collins-Franceschetti syndrome 1 xref: ENSEMBL:ENSG00000070814 xref: GENATLAS:TCOF1 xref: HGNC:11654 xref: OMIM:606847 xref: UNIPROTKB/SWISSPROT:Q13428 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Treacher-Collins syndrome property_value: alternative:term "treacle" xsd:string property_value: symbol "TCOF1" xsd:string [Term] id: Orphanet:120006 name: tyrosyl-DNA phosphodiesterase 1 xref: ENSEMBL:ENSG00000042088 xref: GENATLAS:TDP1 xref: HGNC:18884 xref: OMIM:607198 xref: REACTOME:Q9NUW8 xref: UNIPROTKB/SWISSPROT:Q9NUW8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:94124 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 1 with axonal neuropathy property_value: alternative:term "FLJ11090" xsd:string property_value: alternative:term "SCAN1" xsd:string property_value: symbol "TDP1" xsd:string [Term] id: Orphanet:120010 name: TEA domain family member 1 (SV40 transcriptional enhancer factor) xref: ENSEMBL:ENSG00000187079 xref: GENATLAS:TEAD1 xref: HGNC:11714 xref: OMIM:189967 xref: REACTOME:P28347 xref: UNIPROTKB/SWISSPROT:P28347 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:86813 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Helicoid peripapillary chorioretinal degeneration property_value: alternative:term "AA" xsd:string property_value: alternative:term "atrophia areata, peripapillary chorioretinal degeneration" xsd:string property_value: alternative:term "TCF13" xsd:string property_value: alternative:term "TEF-1" xsd:string property_value: symbol "TEAD1" xsd:string [Term] id: Orphanet:120015 name: tectorin alpha xref: ENSEMBL:ENSG00000109927 xref: GENATLAS:TECTA xref: HGNC:11720 xref: OMIM:602574 xref: UNIPROTKB/SWISSPROT:O75443 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "DFNA12" xsd:string property_value: alternative:term "DFNA8" xsd:string property_value: alternative:term "DFNB21" xsd:string property_value: symbol "TECTA" xsd:string [Term] id: Orphanet:120020 name: TEK tyrosine kinase, endothelial xref: ENSEMBL:ENSG00000120156 xref: GENATLAS:TEK xref: HGNC:11724 xref: IUPHAR:1842 xref: OMIM:600221 xref: REACTOME:Q02763 xref: UNIPROTKB/SWISSPROT:Q02763 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2451 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mucocutaneous venous malformations property_value: alternative:term "CD202b" xsd:string property_value: alternative:term "TEK tyrosine kinase, endothelial (venous malformations, multiple cutaneous and mucosal)" xsd:string property_value: alternative:term "TIE-2" xsd:string property_value: alternative:term "TIE2" xsd:string property_value: alternative:term "venous malformations, multiple cutaneous and mucosal" xsd:string property_value: alternative:term "VMCM" xsd:string property_value: alternative:term "VMCM1" xsd:string property_value: symbol "TEK" xsd:string [Term] id: Orphanet:120027 name: transferrin xref: ENSEMBL:ENSG00000091513 xref: GENATLAS:TF xref: HGNC:11740 xref: OMIM:190000 xref: REACTOME:P02787 xref: UNIPROTKB/SWISSPROT:P02787 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1195 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital atransferrinemia property_value: alternative:term "PRO1557" xsd:string property_value: alternative:term "PRO2086" xsd:string property_value: symbol "TF" xsd:string [Term] id: Orphanet:120029 name: transcription factor AP-2 beta (activating enhancer binding protein 2 beta) xref: ENSEMBL:ENSG00000008196 xref: GENATLAS:TFAP2B xref: HGNC:11743 xref: OMIM:601601 xref: UNIPROTKB/SWISSPROT:Q92481 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:46627 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Char syndrome property_value: alternative:term "AP2-B" xsd:string property_value: alternative:term "transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)" xsd:string property_value: symbol "TFAP2B" xsd:string [Term] id: Orphanet:120032 name: transcription factor B1, mitochondrial xref: ENSEMBL:ENSG00000029639 xref: GENATLAS:TFB1M xref: HGNC:17037 xref: OMIM:607033 xref: UNIPROTKB/SWISSPROT:Q8WVM0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317346 Orphanet:90641 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial nonsyndromic sensorineural deafness property_value: alternative:term "CGI-75" xsd:string property_value: alternative:term "dimethyladenosine transferase 1, mitochondrial" xsd:string property_value: alternative:term "mtTFB" xsd:string property_value: symbol "TFB1M" xsd:string [Term] id: Orphanet:120036 name: transcription factor binding to IGHM enhancer 3 xref: ENSEMBL:ENSG00000068323 xref: GENATLAS:TFE3 xref: HGNC:11752 xref: OMIM:314310 xref: UNIPROTKB/SWISSPROT:P19532 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:163699 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alveolar soft-part sarcoma relationship: Orphanet:317348 Orphanet:319308 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Translocation renal cell carcinoma property_value: alternative:term "bHLHe33" xsd:string property_value: alternative:term "TFEA" xsd:string property_value: alternative:term "transcription factor E family, member A" xsd:string property_value: symbol "TFE3" xsd:string [Term] id: Orphanet:120039 name: TRK-fused gene xref: ENSEMBL:ENSG00000114354 xref: GENATLAS:TFG xref: HGNC:11758 xref: OMIM:602498 xref: UNIPROTKB/SWISSPROT:Q92734 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:320406 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spastic paraplegia-optic atrophy-neuropathy syndrome relationship: Orphanet:317343 Orphanet:90117 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary motor and sensory neuropathy, Okinawa type relationship: Orphanet:317348 Orphanet:146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Papillary or follicular thyroid carcinoma relationship: Orphanet:317348 Orphanet:209916 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Extraskeletal myxoid chondrosarcoma property_value: alternative:term "FLJ36137" xsd:string property_value: alternative:term "SPG57" xsd:string property_value: alternative:term "TF6" xsd:string property_value: symbol "TFG" xsd:string [Term] id: Orphanet:120043 name: transferrin receptor 2 xref: ENSEMBL:ENSG00000106327 xref: GENATLAS:TFR2 xref: HGNC:11762 xref: OMIM:604720 xref: UNIPROTKB/SWISSPROT:Q9UP52 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:225123 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemochromatosis type 3 property_value: alternative:term "HFE3" xsd:string property_value: alternative:term "TFRC2" xsd:string property_value: symbol "TFR2" xsd:string [Term] id: Orphanet:120047 name: transforming growth factor, beta 1 xref: ENSEMBL:ENSG00000105329 xref: GENATLAS:TGFB1 xref: HGNC:11766 xref: OMIM:190180 xref: REACTOME:P01137 xref: UNIPROTKB/SWISSPROT:P01137 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1328 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Camurati-Engelmann disease relationship: Orphanet:317346 Orphanet:586 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cystic fibrosis property_value: alternative:term "Camurati-Engelmann disease" xsd:string property_value: alternative:term "CED" xsd:string property_value: alternative:term "DPD1" xsd:string property_value: alternative:term "TGFB" xsd:string property_value: alternative:term "TGFbeta" xsd:string property_value: symbol "TGFB1" xsd:string [Term] id: Orphanet:120052 name: transforming growth factor, beta 2 xref: ENSEMBL:ENSG00000092969 xref: GENATLAS:TGFB2 xref: HGNC:11768 xref: OMIM:190220 xref: REACTOME:P61812 xref: UNIPROTKB/SWISSPROT:P61812 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:708 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Peters anomaly relationship: Orphanet:317343 Orphanet:91387 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial thoracic aortic aneurysm and aortic dissection property_value: symbol "TGFB2" xsd:string [Term] id: Orphanet:120054 name: transforming growth factor, beta 3 xref: ENSEMBL:ENSG00000119699 xref: GENATLAS:TGFB3 xref: HGNC:11769 xref: OMIM:190230 xref: REACTOME:P10600 xref: UNIPROTKB/SWISSPROT:P10600 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:293888 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, left dominant form relationship: Orphanet:317343 Orphanet:293899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, biventricular form relationship: Orphanet:317343 Orphanet:293910 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, right dominant form property_value: alternative:term "arrhythmogenic right ventricular dysplasia 1" xsd:string property_value: alternative:term "ARVD" xsd:string property_value: alternative:term "ARVD1" xsd:string property_value: symbol "TGFB3" xsd:string [Term] id: Orphanet:120056 name: transforming growth factor, beta-induced, 68kDa xref: ENSEMBL:ENSG00000120708 xref: GENATLAS:TGFBI xref: HGNC:11771 xref: OMIM:601692 xref: REACTOME:Q15582 xref: UNIPROTKB/SWISSPROT:Q15582 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98956 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microcystic corneal dystrophy relationship: Orphanet:317343 Orphanet:98960 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thiel-Behnke corneal dystrophy relationship: Orphanet:317343 Orphanet:98961 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Reis-Bücklers corneal dystrophy relationship: Orphanet:317343 Orphanet:98962 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Granular corneal dystrophy type I relationship: Orphanet:317343 Orphanet:98963 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Granular corneal dystrophy type II relationship: Orphanet:317343 Orphanet:98964 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lattice corneal dystrophy type I property_value: alternative:term "BIGH3" xsd:string property_value: alternative:term "CDB1" xsd:string property_value: alternative:term "CDGG1" xsd:string property_value: alternative:term "CSD1" xsd:string property_value: alternative:term "CSD2" xsd:string property_value: alternative:term "CSD3" xsd:string property_value: alternative:term "LCD1" xsd:string property_value: alternative:term "transforming growth factor, beta-induced, 68kD" xsd:string property_value: symbol "TGFBI" xsd:string [Term] id: Orphanet:120065 name: transforming growth factor, beta receptor 1 xref: ENSEMBL:ENSG00000106799 xref: GENATLAS:TGFBR1 xref: HGNC:11772 xref: IUPHAR:1788 xref: OMIM:190181 xref: REACTOME:P36897 xref: UNIPROTKB/SWISSPROT:P36897 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:60030 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Loeys-Dietz syndrome type 1 relationship: Orphanet:317343 Orphanet:91387 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial thoracic aortic aneurysm and aortic dissection relationship: Orphanet:317345 Orphanet:65748 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple keratoacanthoma, Ferguson-Smith type property_value: alternative:term "activin A receptor type II-like kinase, 53kDa" xsd:string property_value: alternative:term "ACVRLK4" xsd:string property_value: alternative:term "ALK-5" xsd:string property_value: alternative:term "transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)" xsd:string property_value: alternative:term "Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)" xsd:string property_value: symbol "TGFBR1" xsd:string [Term] id: Orphanet:120069 name: transforming growth factor, beta receptor II (70/80kDa) xref: ENSEMBL:ENSG00000163513 xref: GENATLAS:TGFBR2 xref: HGNC:11773 xref: IUPHAR:1795 xref: OMIM:190182 xref: REACTOME:P37173 xref: UNIPROTKB/SWISSPROT:P37173 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:144 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary nonpolyposis colon cancer relationship: Orphanet:317343 Orphanet:284973 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Marfan syndrome type 2 relationship: Orphanet:317343 Orphanet:60030 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Loeys-Dietz syndrome type 1 relationship: Orphanet:317343 Orphanet:88636 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Aortic dilatation - joint hypermobility - arterial tortuosity relationship: Orphanet:317343 Orphanet:91387 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial thoracic aortic aneurysm and aortic dissection property_value: alternative:term "MFS2" xsd:string property_value: alternative:term "transforming growth factor, beta receptor II (70-80kD)" xsd:string property_value: symbol "TGFBR2" xsd:string [Term] id: Orphanet:120072 name: TGFB-induced factor homeobox 1 xref: ENSEMBL:ENSG00000177426 xref: GENATLAS:TGIF1 xref: HGNC:11776 xref: OMIM:602630 xref: REACTOME:Q15583 xref: UNIPROTKB/SWISSPROT:Q15583 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220386 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Semilobar holoprosencephaly relationship: Orphanet:317343 Orphanet:280195 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Septopreoptic holoprosencephaly relationship: Orphanet:317343 Orphanet:280200 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microform holoprosencephaly relationship: Orphanet:317343 Orphanet:93924 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93925 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93926 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Midline interhemispheric variant of holoprosencephaly property_value: alternative:term "HPE4" xsd:string property_value: alternative:term "TGFB-induced factor (TALE family homeobox)" xsd:string property_value: alternative:term "TGIF" xsd:string property_value: symbol "TGIF1" xsd:string [Term] id: Orphanet:120076 name: transglutaminase 1 xref: ENSEMBL:ENSG00000092295 xref: GENATLAS:TGM1 xref: HGNC:11777 xref: OMIM:190195 xref: UNIPROTKB/SWISSPROT:P22735 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100976 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bathing suit ichthyosis relationship: Orphanet:317343 Orphanet:281122 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Self-healing collodion baby relationship: Orphanet:317343 Orphanet:281127 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acral self-healing collodion baby relationship: Orphanet:317343 Orphanet:313 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lamellar ichthyosis relationship: Orphanet:317343 Orphanet:79394 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital non-bullous ichthyosiform erythroderma property_value: alternative:term "ICR2" xsd:string property_value: alternative:term "K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase" xsd:string property_value: alternative:term "LI" xsd:string property_value: alternative:term "LI1" xsd:string property_value: alternative:term "TGASE" xsd:string property_value: alternative:term "TGK" xsd:string property_value: alternative:term "Transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)" xsd:string property_value: symbol "TGM1" xsd:string [Term] id: Orphanet:120083 name: transglutaminase 5 xref: ENSEMBL:ENSG00000104055 xref: GENATLAS:TGM5 xref: HGNC:11781 xref: OMIM:603805 xref: UNIPROTKB/SWISSPROT:O43548 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:263534 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acral peeling skin syndrome property_value: alternative:term "TGX" xsd:string property_value: symbol "TGM5" xsd:string [Term] id: Orphanet:120086 name: tyrosine hydroxylase xref: ENSEMBL:ENSG00000180176 xref: GENATLAS:TH xref: HGNC:11782 xref: OMIM:191290 xref: REACTOME:P07101 xref: UNIPROTKB/SWISSPROT:P07101 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101150 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive dopa-responsive dystonia property_value: alternative:term "DYT5b" xsd:string property_value: alternative:term "tyrosine 3-monooxygenase" xsd:string property_value: symbol "TH" xsd:string [Term] id: Orphanet:120088 name: thrombomodulin xref: ENSEMBL:ENSG00000178726 xref: GENATLAS:THBD xref: HGNC:11784 xref: OMIM:188040 xref: REACTOME:P07204 xref: UNIPROTKB/SWISSPROT:P07204 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3324 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial thrombomodulin anomalies relationship: Orphanet:317345 Orphanet:217023 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Atypical hemolytic uremic syndrome with thrombomodulin anomaly property_value: alternative:term "CD141" xsd:string property_value: symbol "THBD" xsd:string [Term] id: Orphanet:120091 name: thrombopoietin xref: ENSEMBL:ENSG00000090534 xref: GENATLAS:THPO xref: HGNC:11795 xref: OMIM:600044 xref: REACTOME:P40225 xref: UNIPROTKB/SWISSPROT:P40225 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:329319 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary thrombocytosis with transverse limb defect relationship: Orphanet:317343 Orphanet:71493 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial thrombocytosis property_value: alternative:term "c-mpl ligand" xsd:string property_value: alternative:term "megakaryocyte colony-stimulating factor" xsd:string property_value: alternative:term "megakaryocyte growth and development factor" xsd:string property_value: alternative:term "megakaryocyte stimulating factor" xsd:string property_value: alternative:term "MGDF" xsd:string property_value: alternative:term "MPL ligand" xsd:string property_value: alternative:term "MPLLG" xsd:string property_value: alternative:term "myeloproliferative leukemia virus oncogene ligand" xsd:string property_value: alternative:term "thrombopoietin nirs variant 1" xsd:string property_value: alternative:term "TPO" xsd:string property_value: symbol "THPO" xsd:string [Term] id: Orphanet:1201 name: Atresia of small intestine xref: ICD10:Q41 xref: MEDDRA:10010626 xref: MESH:C538260 xref: OMIM:243600 xref: SNOMED CT:204702007 xref: SNOMED CT:360491009 xref: SNOMED CT:84296002 xref: UMLS:C0266172 xref: UMLS:C0266175 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:108967 ! Nonsyndromic intestinal malformation relationship: part_of Orphanet:365563 ! Primary short bowel syndrome property_value: alternative:term "Apple peel syndrome" xsd:string property_value: alternative:term "Christmas tree syndrome" xsd:string property_value: alternative:term "Jejunal atresia" xsd:string property_value: alternative:term "Small intestinal atresia" xsd:string [Term] id: Orphanet:120101 name: thyroid hormone receptor, beta xref: ENSEMBL:ENSG00000151090 xref: GENATLAS:THRB xref: HGNC:11799 xref: IUPHAR:589 xref: OMIM:190160 xref: REACTOME:P10828 xref: UNIPROTKB/SWISSPROT:P10828 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:165994 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Selective pituitary resistance to thyroid hormone relationship: Orphanet:317343 Orphanet:3221 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized resistance to thyroid hormone relationship: Orphanet:317349 Orphanet:97927 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Peripheral resistance to thyroid hormones property_value: alternative:term "avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2" xsd:string property_value: alternative:term "ERBA-BETA" xsd:string property_value: alternative:term "ERBA2" xsd:string property_value: alternative:term "generalized resistance to thyroid hormone" xsd:string property_value: alternative:term "GRTH" xsd:string property_value: alternative:term "NR1A2" xsd:string property_value: alternative:term "oncogene ERBA2" xsd:string property_value: alternative:term "pituitary resistance to thyroid hormone" xsd:string property_value: alternative:term "PRTH" xsd:string property_value: alternative:term "THR1" xsd:string property_value: alternative:term "THRB1" xsd:string property_value: alternative:term "THRB2" xsd:string property_value: alternative:term "thyroid hormone receptor beta 1" xsd:string property_value: alternative:term "thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)" xsd:string property_value: alternative:term "Thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)" xsd:string property_value: symbol "THRB" xsd:string [Term] id: Orphanet:120107 name: translocase of inner mitochondrial membrane 8 homolog A (yeast) xref: ENSEMBL:ENSG00000126953 xref: GENATLAS:TIMM8A xref: HGNC:11817 xref: OMIM:300356 xref: REACTOME:O60220 xref: UNIPROTKB/SWISSPROT:O60220 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:52368 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mohr-Tranebjaerg syndrome property_value: alternative:term "DDP" xsd:string property_value: alternative:term "DFN1" xsd:string property_value: alternative:term "MTS" xsd:string property_value: alternative:term "translocase of inner mitochondrial membrane 8 (yeast) homolog A" xsd:string property_value: symbol "TIMM8A" xsd:string [Term] id: Orphanet:120112 name: TIMP metallopeptidase inhibitor 3 xref: ENSEMBL:ENSG00000100234 xref: GENATLAS:TIMP3 xref: HGNC:11822 xref: OMIM:188826 xref: UNIPROTKB/SWISSPROT:P35625 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:59181 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sorsby's fundus dystrophy property_value: alternative:term "SFD" xsd:string property_value: alternative:term "TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory)" xsd:string property_value: alternative:term "tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)" xsd:string property_value: symbol "TIMP3" xsd:string [Term] id: Orphanet:120120 name: thymidine kinase 2, mitochondrial xref: ENSEMBL:ENSG00000166548 xref: GENATLAS:TK2 xref: HGNC:11831 xref: OMIM:188250 xref: REACTOME:O00142 xref: UNIPROTKB/SWISSPROT:O00142 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:254875 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial DNA depletion syndrome, myopathic form relationship: Orphanet:317343 Orphanet:254886 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive progressive external ophthalmoplegia property_value: symbol "TK2" xsd:string [Term] id: Orphanet:120130 name: transmembrane channel-like 1 xref: ENSEMBL:ENSG00000165091 xref: GENATLAS:TMC1 xref: HGNC:16513 xref: OMIM:606706 xref: UNIPROTKB/SWISSPROT:Q8TDI8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "DFNA36" xsd:string property_value: alternative:term "DFNB11" xsd:string property_value: alternative:term "DFNB7" xsd:string property_value: alternative:term "transmembrane, cochlear expressed, 1" xsd:string property_value: symbol "TMC1" xsd:string [Term] id: Orphanet:120137 name: anoctamin 5 xref: ENSEMBL:ENSG00000171714 xref: GENATLAS:ANO5 xref: HGNC:27337 xref: OMIM:608662 xref: REACTOME:Q75V66 xref: UNIPROTKB/SWISSPROT:Q75V66 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:206549 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive limb-girdle muscular dystrophy type 2L relationship: Orphanet:317343 Orphanet:45448 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Miyoshi myopathy relationship: Orphanet:317343 Orphanet:53697 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gnathodiaphyseal dysplasia property_value: alternative:term "GDD1" xsd:string property_value: alternative:term "TMEM16E" xsd:string property_value: alternative:term "transmembrane protein 16E" xsd:string property_value: symbol "ANO5" xsd:string [Term] id: Orphanet:120140 name: transmembrane protein 67 xref: ENSEMBL:ENSG00000164953 xref: GENATLAS:TMEM67 xref: HGNC:28396 xref: OMIM:609884 xref: UNIPROTKB/SWISSPROT:Q5HYA8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1454 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with hepatic defect relationship: Orphanet:317343 Orphanet:475 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome relationship: Orphanet:317343 Orphanet:564 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Meckel syndrome relationship: Orphanet:317343 Orphanet:84081 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Senior-Boichis syndrome property_value: alternative:term "JBTS6" xsd:string property_value: alternative:term "Meckel syndrome, type 3" xsd:string property_value: alternative:term "Meckelin" xsd:string property_value: alternative:term "MGC26979" xsd:string property_value: alternative:term "MKS3" xsd:string property_value: alternative:term "NPHP11" xsd:string property_value: symbol "TMEM67" xsd:string [Term] id: Orphanet:120145 name: transmembrane inner ear xref: ENSEMBL:ENSG00000181585 xref: GENATLAS:TMIE xref: HGNC:30800 xref: OMIM:607237 xref: UNIPROTKB/SWISSPROT:Q8NEW7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "deafness, autosomal recessive 6" xsd:string property_value: alternative:term "DFNB6" xsd:string property_value: symbol "TMIE" xsd:string [Term] id: Orphanet:120148 name: transmembrane protease, serine 3 xref: ENSEMBL:ENSG00000160183 xref: GENATLAS:TMPRSS3 xref: HGNC:11877 xref: OMIM:605511 xref: UNIPROTKB/SWISSPROT:P57727 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "DFNB10" xsd:string property_value: alternative:term "DFNB8" xsd:string property_value: symbol "TMPRSS3" xsd:string [Term] id: Orphanet:120152 name: tumor necrosis factor receptor superfamily, member 10b xref: ENSEMBL:ENSG00000120889 xref: GENATLAS:TNFRSF10B xref: HGNC:11905 xref: OMIM:603612 xref: REACTOME:O14763 xref: UNIPROTKB/SWISSPROT:O14763 is_a: Orphanet:C010 ! gene relationship: Orphanet:317344 Orphanet:67037 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Squamous cell carcinoma of head and neck property_value: alternative:term "CD262" xsd:string property_value: alternative:term "DR5" xsd:string property_value: alternative:term "KILLER" xsd:string property_value: alternative:term "TRAIL-R2" xsd:string property_value: alternative:term "TRICK2A" xsd:string property_value: alternative:term "TRICKB" xsd:string property_value: symbol "TNFRSF10B" xsd:string [Term] id: Orphanet:120160 name: tumor necrosis factor receptor superfamily, member 11a, NFKB activator xref: ENSEMBL:ENSG00000141655 xref: GENATLAS:TNFRSF11A xref: HGNC:11908 xref: OMIM:603499 xref: UNIPROTKB/SWISSPROT:Q9Y6Q6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178389 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteopetrosis - hypogammaglobulinemia relationship: Orphanet:317343 Orphanet:85195 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial expansile osteolysis property_value: alternative:term "CD265" xsd:string property_value: alternative:term "RANK" xsd:string property_value: alternative:term "tumor necrosis factor receptor superfamily, member 11a, activator of NFKB" xsd:string property_value: symbol "TNFRSF11A" xsd:string [Term] id: Orphanet:120164 name: tumor necrosis factor receptor superfamily, member 11b xref: ENSEMBL:ENSG00000164761 xref: GENATLAS:TNFRSF11B xref: HGNC:11909 xref: OMIM:602643 xref: UNIPROTKB/SWISSPROT:O00300 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2801 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juvenile Paget disease property_value: alternative:term "OCIF" xsd:string property_value: alternative:term "OPG" xsd:string property_value: alternative:term "osteoprotegerin" xsd:string property_value: alternative:term "TR1" xsd:string property_value: alternative:term "Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)" xsd:string property_value: symbol "TNFRSF11B" xsd:string [Term] id: Orphanet:120169 name: tumor necrosis factor receptor superfamily, member 13B xref: ENSEMBL:ENSG00000240505 xref: GENATLAS:TNFRSF13B xref: HGNC:18153 xref: OMIM:604907 xref: UNIPROTKB/SWISSPROT:O14836 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1572 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Common variable immunodeficiency property_value: alternative:term "CD267" xsd:string property_value: alternative:term "TACI" xsd:string property_value: symbol "TNFRSF13B" xsd:string [Term] id: Orphanet:120173 name: tumor necrosis factor receptor superfamily, member 1A xref: ENSEMBL:ENSG00000067182 xref: GENATLAS:TNFRSF1A xref: HGNC:11916 xref: OMIM:191190 xref: REACTOME:P19438 xref: UNIPROTKB/SWISSPROT:P19438 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:32960 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! TRAPS syndrome relationship: Orphanet:317345 Orphanet:329967 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Intermittent hydrarthrosis property_value: alternative:term "CD120a" xsd:string property_value: alternative:term "TNF-R" xsd:string property_value: alternative:term "TNF-R-I" xsd:string property_value: alternative:term "TNF-R55" xsd:string property_value: alternative:term "TNFAR" xsd:string property_value: alternative:term "TNFR1" xsd:string property_value: alternative:term "TNFR60" xsd:string property_value: symbol "TNFRSF1A" xsd:string [Term] id: Orphanet:120182 name: troponin I type 2 (skeletal, fast) xref: ENSEMBL:ENSG00000130598 xref: GENATLAS:TNNI2 xref: HGNC:11946 xref: OMIM:191043 xref: REACTOME:P48788 xref: UNIPROTKB/SWISSPROT:P48788 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Digitotalar dysmorphism relationship: Orphanet:317343 Orphanet:1147 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sheldon-Hall syndrome property_value: alternative:term "AMCD2B" xsd:string property_value: alternative:term "arthrogryposis multiplex congenita, distal, type 2B" xsd:string property_value: alternative:term "DA2B" xsd:string property_value: alternative:term "FSSV" xsd:string property_value: alternative:term "troponin I fast twitch 2" xsd:string property_value: alternative:term "troponin I, fast-twitch skeletal muscle isoform" xsd:string property_value: alternative:term "troponin I, skeletal, fast" xsd:string property_value: symbol "TNNI2" xsd:string [Term] id: Orphanet:120184 name: troponin I type 3 (cardiac) xref: ENSEMBL:ENSG00000129991 xref: GENATLAS:TNNI3 xref: HGNC:11947 xref: OMIM:191044 xref: REACTOME:P19429 xref: UNIPROTKB/SWISSPROT:P19429 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317343 Orphanet:75249 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated restrictive cardiomyopathy property_value: alternative:term "CMH7" xsd:string property_value: alternative:term "TNNC1" xsd:string property_value: alternative:term "troponin I, cardiac" xsd:string property_value: symbol "TNNI3" xsd:string [Term] id: Orphanet:120188 name: troponin T type 1 (skeletal, slow) xref: ENSEMBL:ENSG00000105048 xref: GENATLAS:TNNT1 xref: HGNC:11948 xref: OMIM:191041 xref: REACTOME:P13805 xref: UNIPROTKB/SWISSPROT:P13805 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98902 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amish nemaline myopathy property_value: alternative:term "ANM" xsd:string property_value: alternative:term "FLJ98147" xsd:string property_value: alternative:term "MGC104241" xsd:string property_value: alternative:term "NEM5" xsd:string property_value: alternative:term "nemaline myopathy type 5" xsd:string property_value: alternative:term "slow skeletal muscle troponin T" xsd:string property_value: alternative:term "STNT" xsd:string property_value: alternative:term "TNT" xsd:string property_value: alternative:term "TNTS" xsd:string property_value: alternative:term "troponin T1, skeletal, slow" xsd:string property_value: symbol "TNNT1" xsd:string [Term] id: Orphanet:120190 name: troponin T type 2 (cardiac) xref: ENSEMBL:ENSG00000118194 xref: GENATLAS:TNNT2 xref: HGNC:11949 xref: OMIM:191045 xref: REACTOME:P45379 xref: UNIPROTKB/SWISSPROT:P45379 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317343 Orphanet:75249 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated restrictive cardiomyopathy relationship: Orphanet:317345 Orphanet:54260 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Left ventricular noncompaction property_value: alternative:term "cardiomyopathy, hypertrophic 2" xsd:string property_value: alternative:term "CMH2" xsd:string property_value: alternative:term "troponin T2, cardiac" xsd:string property_value: symbol "TNNT2" xsd:string [Term] id: Orphanet:120192 name: troponin T type 3 (skeletal, fast) xref: ENSEMBL:ENSG00000130595 xref: GENATLAS:TNNT3 xref: HGNC:11950 xref: OMIM:600692 xref: REACTOME:P45378 xref: UNIPROTKB/SWISSPROT:P45378 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Digitotalar dysmorphism relationship: Orphanet:317343 Orphanet:1147 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sheldon-Hall syndrome property_value: alternative:term "AMCD2B" xsd:string property_value: alternative:term "DA2B" xsd:string property_value: alternative:term "DKFZp779M2348" xsd:string property_value: alternative:term "FSSV" xsd:string property_value: alternative:term "troponin T3, skeletal, fast" xsd:string property_value: alternative:term "troponin-T3, skeletal, fast" xsd:string property_value: symbol "TNNT3" xsd:string [Term] id: Orphanet:120194 name: tenascin XB xref: ENSEMBL:ENSG00000168477 xref: GENATLAS:TNXB xref: HGNC:11976 xref: OMIM:600985 xref: REACTOME:P22105 xref: UNIPROTKB/SWISSPROT:P22105 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:230839 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos syndrome due to tenascin-X deficiency relationship: Orphanet:317343 Orphanet:285 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos syndrome, hypermobility type property_value: alternative:term "TNXB1" xsd:string property_value: alternative:term "TNXB2" xsd:string property_value: alternative:term "TNXBS" xsd:string property_value: alternative:term "XB" xsd:string property_value: alternative:term "XBS" xsd:string property_value: symbol "TNXB" xsd:string [Term] id: Orphanet:1202 name: Larynx atresia xref: ICD10:Q31.8 xref: OMIM:150300 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:156249 ! Larynx anomaly [Term] id: Orphanet:120201 name: torsin family 1, member A (torsin A) xref: ENSEMBL:ENSG00000136827 xref: GENATLAS:TOR1A xref: HGNC:3098 xref: OMIM:605204 xref: UNIPROTKB/SWISSPROT:O14656 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:256 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early-onset generalized limb-onset dystonia relationship: Orphanet:327767 Orphanet:36899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myoclonus-dystonia syndrome property_value: alternative:term "DQ2" xsd:string property_value: alternative:term "dystonia 1, torsion (autosomal dominant; torsin A)" xsd:string property_value: alternative:term "DYT1" xsd:string property_value: symbol "TOR1A" xsd:string [Term] id: Orphanet:120204 name: tumor protein p53 xref: ENSEMBL:ENSG00000141510 xref: GENATLAS:TP53 xref: HGNC:11998 xref: OMIM:191170 xref: REACTOME:P04637 xref: UNIPROTKB/SWISSPROT:P04637 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1333 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial pancreatic carcinoma relationship: Orphanet:317343 Orphanet:2807 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Papilloma of choroid plexus relationship: Orphanet:317343 Orphanet:524 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Li-Fraumeni syndrome relationship: Orphanet:317344 Orphanet:67038 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! B-cell chronic lymphocytic leukemia relationship: Orphanet:317345 Orphanet:1501 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Adrenocortical carcinoma relationship: Orphanet:317345 Orphanet:99860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor B-cell acute lymphoblastic leukemia relationship: Orphanet:317347 Orphanet:251576 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gliosarcoma relationship: Orphanet:317347 Orphanet:251579 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Giant cell glioblastoma relationship: Orphanet:317347 Orphanet:3318 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Essential thrombocythemia property_value: alternative:term "LFS1" xsd:string property_value: alternative:term "Li-Fraumeni syndrome" xsd:string property_value: alternative:term "P53" xsd:string property_value: alternative:term "Tumor protein p53 (Li-Fraumeni syndrome)" xsd:string property_value: symbol "TP53" xsd:string [Term] id: Orphanet:120207 name: tumor protein p63 xref: ENSEMBL:ENSG00000073282 xref: GENATLAS:TP63 xref: HGNC:15979 xref: OMIM:603273 xref: UNIPROTKB/SWISSPROT:Q9H3D4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1071 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ankyloblepharon - ectodermal defects - cleft lip/palate relationship: Orphanet:317343 Orphanet:1896 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! EEC syndrome relationship: Orphanet:317343 Orphanet:2440 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Split hand-split foot malformation relationship: Orphanet:317343 Orphanet:69085 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Limb-mammary syndrome relationship: Orphanet:317343 Orphanet:978 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! ADULT syndrome relationship: Orphanet:317345 Orphanet:93930 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bladder exstrophy property_value: alternative:term "EEC3" xsd:string property_value: alternative:term "KET" xsd:string property_value: alternative:term "NBP" xsd:string property_value: alternative:term "OFC8" xsd:string property_value: alternative:term "p51" xsd:string property_value: alternative:term "p53CP" xsd:string property_value: alternative:term "p63" xsd:string property_value: alternative:term "p73H" xsd:string property_value: alternative:term "p73L" xsd:string property_value: alternative:term "SHFM4" xsd:string property_value: alternative:term "TP53CP" xsd:string property_value: alternative:term "TP53L" xsd:string property_value: alternative:term "TP63" xsd:string property_value: alternative:term "TP73L" xsd:string property_value: alternative:term "tumor protein p53-competing protein" xsd:string property_value: alternative:term "tumor protein p53-like" xsd:string property_value: alternative:term "tumor protein p73-like" xsd:string property_value: symbol "TP63" xsd:string [Term] id: Orphanet:120218 name: triosephosphate isomerase 1 xref: ENSEMBL:ENSG00000111669 xref: GENATLAS:TPI1 xref: HGNC:12009 xref: OMIM:190450 xref: REACTOME:P60174 xref: UNIPROTKB/SWISSPROT:P60174 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:868 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Triose phosphate-isomerase deficiency property_value: symbol "TPI1" xsd:string [Term] id: Orphanet:120220 name: tropomyosin 1 (alpha) xref: ENSEMBL:ENSG00000140416 xref: GENATLAS:TPM1 xref: HGNC:12010 xref: OMIM:191010 xref: REACTOME:P09493 xref: UNIPROTKB/SWISSPROT:P09493 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317345 Orphanet:54260 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Left ventricular noncompaction property_value: alternative:term "C15orf13" xsd:string property_value: alternative:term "cardiomyopathy, hypertrophic 3" xsd:string property_value: alternative:term "chromosome 15 open reading frame 13" xsd:string property_value: alternative:term "CMH3" xsd:string property_value: symbol "TPM1" xsd:string [Term] id: Orphanet:120223 name: tropomyosin 2 (beta) xref: ENSEMBL:ENSG00000198467 xref: GENATLAS:TPM2 xref: HGNC:12011 xref: OMIM:190990 xref: REACTOME:P07951 xref: UNIPROTKB/SWISSPROT:P07951 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Digitotalar dysmorphism relationship: Orphanet:317343 Orphanet:1147 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sheldon-Hall syndrome relationship: Orphanet:317343 Orphanet:171436 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Typical nemaline myopathy relationship: Orphanet:317343 Orphanet:171439 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Childhood-onset nemaline myopathy relationship: Orphanet:317343 Orphanet:171881 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cap myopathy relationship: Orphanet:317343 Orphanet:2020 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital fiber-type disproportion myopathy relationship: Orphanet:317343 Orphanet:3377 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Trismus - pseudocamptodactyly property_value: alternative:term "AMCD1" xsd:string property_value: alternative:term "arthrogryposis multiplex congenital, distal, type 1" xsd:string property_value: alternative:term "DA1" xsd:string property_value: alternative:term "NEM4" xsd:string property_value: alternative:term "nemaline myopathy type 4" xsd:string property_value: symbol "TPM2" xsd:string [Term] id: Orphanet:120227 name: tropomyosin 3 xref: ENSEMBL:ENSG00000143549 xref: GENATLAS:TPM3 xref: HGNC:12012 xref: OMIM:191030 xref: REACTOME:P06753 xref: UNIPROTKB/SWISSPROT:P06753 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171433 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intermediate nemaline myopathy relationship: Orphanet:317343 Orphanet:171439 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Childhood-onset nemaline myopathy relationship: Orphanet:317343 Orphanet:171881 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cap myopathy relationship: Orphanet:317343 Orphanet:2020 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital fiber-type disproportion myopathy relationship: Orphanet:317348 Orphanet:178342 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Inflammatory myofibroblastic tumor property_value: alternative:term "NEM1" xsd:string property_value: alternative:term "TRK" xsd:string property_value: symbol "TPM3" xsd:string [Term] id: Orphanet:120231 name: thiopurine S-methyltransferase xref: ENSEMBL:ENSG00000137364 xref: GENATLAS:TPMT xref: HGNC:12014 xref: OMIM:187680 xref: REACTOME:P51580 xref: UNIPROTKB/SWISSPROT:P51580 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3315 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thiopurine S-methyltransferase deficiency property_value: symbol "TPMT" xsd:string [Term] id: Orphanet:120233 name: thyroid peroxidase xref: ENSEMBL:ENSG00000115705 xref: GENATLAS:TPO xref: HGNC:12015 xref: IUPHAR:2526 xref: OMIM:606765 xref: REACTOME:P07202 xref: UNIPROTKB/SWISSPROT:P07202 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:95716 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial thyroid dyshormonogenesis property_value: alternative:term "TPX" xsd:string property_value: symbol "TPO" xsd:string [Term] id: Orphanet:120236 name: tripeptidyl peptidase I xref: ENSEMBL:ENSG00000166340 xref: GENATLAS:TPP1 xref: HGNC:2073 xref: OMIM:607998 xref: REACTOME:O14773 xref: UNIPROTKB/SWISSPROT:O14773 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:228349 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CLN2 disease relationship: Orphanet:317343 Orphanet:284324 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia property_value: alternative:term "ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)" xsd:string property_value: alternative:term "CLN2" xsd:string property_value: alternative:term "TPP I" xsd:string property_value: symbol "TPP1" xsd:string [Term] id: Orphanet:120239 name: translocated promoter region, nuclear basket protein xref: ENSEMBL:ENSG00000047410 xref: GENATLAS:TPR xref: HGNC:12017 xref: OMIM:189940 xref: REACTOME:P12270 xref: UNIPROTKB/SWISSPROT:P12270 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Papillary or follicular thyroid carcinoma property_value: alternative:term "Translocated promoter region (to activated MET oncogene)" xsd:string property_value: symbol "TPR" xsd:string [Term] id: Orphanet:120241 name: trafficking protein particle complex 2 xref: ENSEMBL:ENSG00000196459 xref: GENATLAS:TRAPPC2 xref: HGNC:23068 xref: OMIM:300202 xref: UNIPROTKB/SWISSPROT:P0DI81 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93284 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spondyloepiphyseal dysplasia tarda property_value: alternative:term "hYP38334" xsd:string property_value: alternative:term "MIP-2A" xsd:string property_value: alternative:term "SEDL" xsd:string property_value: alternative:term "SEDT" xsd:string property_value: alternative:term "spondyloepiphyseal dysplasia, late" xsd:string property_value: alternative:term "TRS20" xsd:string property_value: alternative:term "ZNF547L" xsd:string property_value: symbol "TRAPPC2" xsd:string [Term] id: Orphanet:120249 name: triggering receptor expressed on myeloid cells 2 xref: ENSEMBL:ENSG00000095970 xref: GENATLAS:TREM2 xref: HGNC:17761 xref: OMIM:605086 xref: REACTOME:Q9NZC2 xref: UNIPROTKB/SWISSPROT:Q9NZC2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2770 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nasu-Hakola disease property_value: alternative:term "TREM-2" xsd:string property_value: alternative:term "Trem2a" xsd:string property_value: alternative:term "Trem2b" xsd:string property_value: alternative:term "Trem2c" xsd:string property_value: alternative:term "triggering receptor expressed on myeloid cells 2a" xsd:string property_value: symbol "TREM2" xsd:string [Term] id: Orphanet:120255 name: three prime repair exonuclease 1 xref: ENSEMBL:ENSG00000213689 xref: GENATLAS:TREX1 xref: HGNC:12269 xref: OMIM:606609 xref: REACTOME:Q9NSU2 xref: UNIPROTKB/SWISSPROT:Q9NSU2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3421 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cerebroretinal vasculopathy relationship: Orphanet:317343 Orphanet:51 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Aicardi-Goutières syndrome relationship: Orphanet:317343 Orphanet:63261 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! HERNS syndrome relationship: Orphanet:317343 Orphanet:71291 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary vascular retinopathy relationship: Orphanet:317343 Orphanet:90280 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chilblain lupus property_value: alternative:term "AGS1" xsd:string property_value: alternative:term "Aicardi-Goutieres syndrome 1" xsd:string property_value: alternative:term "DRN3" xsd:string property_value: symbol "TREX1" xsd:string [Term] id: Orphanet:120259 name: thyrotropin-releasing hormone xref: ENSEMBL:ENSG00000170893 xref: GENATLAS:TRH xref: HGNC:12298 xref: OMIM:613879 xref: REACTOME:P20396 xref: UNIPROTKB/SWISSPROT:P20396 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:238670 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated thyrotropin-releasing hormone deficiency property_value: alternative:term "prothyroliberin" xsd:string property_value: symbol "TRH" xsd:string [Term] id: Orphanet:120261 name: thyrotropin-releasing hormone receptor xref: ENSEMBL:ENSG00000174417 xref: GENATLAS:TRHR xref: HGNC:12299 xref: IUPHAR:363 xref: OMIM:188545 xref: REACTOME:P34981 xref: UNIPROTKB/SWISSPROT:P34981 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99832 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Resistance to thyrotropin-releasing hormone syndrome property_value: symbol "TRHR" xsd:string [Term] id: Orphanet:120263 name: tripartite motif containing 24 xref: ENSEMBL:ENSG00000122779 xref: GENATLAS:TRIM24 xref: HGNC:11812 xref: IUPHAR:2252 xref: OMIM:603406 xref: REACTOME:O15164 xref: UNIPROTKB/SWISSPROT:O15164 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Papillary or follicular thyroid carcinoma property_value: alternative:term "hTIF1" xsd:string property_value: alternative:term "RNF82" xsd:string property_value: alternative:term "TIF1" xsd:string property_value: alternative:term "Tif1a" xsd:string property_value: alternative:term "transcriptional intermediary factor 1" xsd:string property_value: alternative:term "Tripartite motif-containing 24" xsd:string property_value: symbol "TRIM24" xsd:string [Term] id: Orphanet:120269 name: tripartite motif containing 27 xref: ENSEMBL:ENSG00000204713 xref: GENATLAS:TRIM27 xref: HGNC:9975 xref: OMIM:602165 xref: UNIPROTKB/SWISSPROT:P14373 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Papillary or follicular thyroid carcinoma property_value: alternative:term "ret finger protein" xsd:string property_value: alternative:term "RFP" xsd:string property_value: alternative:term "RNF76" xsd:string property_value: alternative:term "Tripartite motif-containing 27" xsd:string property_value: symbol "TRIM27" xsd:string [Term] id: Orphanet:120273 name: tripartite motif containing 32 xref: ENSEMBL:ENSG00000119401 xref: GENATLAS:TRIM32 xref: HGNC:16380 xref: OMIM:602290 xref: REACTOME:Q13049 xref: UNIPROTKB/SWISSPROT:Q13049 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bardet-Biedl syndrome relationship: Orphanet:317343 Orphanet:1878 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive limb-girdle muscular dystrophy type 2H property_value: alternative:term "BBS11" xsd:string property_value: alternative:term "HT2A" xsd:string property_value: alternative:term "LGMD2H" xsd:string property_value: alternative:term "limb girdle muscular dystrophy 2H (autosomal recessive)" xsd:string property_value: alternative:term "TATIP" xsd:string property_value: alternative:term "Tripartite motif-containing 32" xsd:string property_value: symbol "TRIM32" xsd:string [Term] id: Orphanet:120279 name: tripartite motif containing 33 xref: ENSEMBL:ENSG00000197323 xref: GENATLAS:TRIM33 xref: HGNC:16290 xref: IUPHAR:2254 xref: OMIM:605769 xref: REACTOME:Q9UPN9 xref: UNIPROTKB/SWISSPROT:Q9UPN9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Papillary or follicular thyroid carcinoma property_value: alternative:term "FLJ11429" xsd:string property_value: alternative:term "KIAA1113" xsd:string property_value: alternative:term "PTC7" xsd:string property_value: alternative:term "ret-fused gene 7" xsd:string property_value: alternative:term "RFG7" xsd:string property_value: alternative:term "TF1G" xsd:string property_value: alternative:term "TIF1G" xsd:string property_value: alternative:term "TIF1GAMMA" xsd:string property_value: alternative:term "TIFGAMMA" xsd:string property_value: alternative:term "transcriptional intermediary factor 1 gamma" xsd:string property_value: alternative:term "Tripartite motif-containing 33" xsd:string property_value: symbol "TRIM33" xsd:string [Term] id: Orphanet:120289 name: tripartite motif containing 37 xref: ENSEMBL:ENSG00000108395 xref: GENATLAS:TRIM37 xref: HGNC:7523 xref: OMIM:605073 xref: REACTOME:O94972 xref: UNIPROTKB/SWISSPROT:O94972 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2576 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MULIBREY nanism property_value: alternative:term "KIAA0898" xsd:string property_value: alternative:term "MUL" xsd:string property_value: alternative:term "POB1" xsd:string property_value: alternative:term "RING-B-box-coiled-coil protein" xsd:string property_value: alternative:term "TEF3" xsd:string property_value: alternative:term "Tripartite motif-containing 37" xsd:string property_value: symbol "TRIM37" xsd:string [Term] id: Orphanet:120293 name: tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase xref: ENSEMBL:ENSG00000100416 xref: GENATLAS:TRMU xref: HGNC:25481 xref: OMIM:610230 xref: UNIPROTKB/SWISSPROT:O75648 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:217371 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins relationship: Orphanet:317343 Orphanet:254864 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial myopathy with reversible cytochrome C oxidase deficiency relationship: Orphanet:317346 Orphanet:168609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure relationship: Orphanet:317346 Orphanet:90641 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial nonsyndromic sensorineural deafness property_value: alternative:term "FLJ10140" xsd:string property_value: alternative:term "MTO2" xsd:string property_value: alternative:term "TRMT" xsd:string property_value: alternative:term "tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase" xsd:string property_value: symbol "TRMU" xsd:string [Term] id: Orphanet:120298 name: transient receptor potential cation channel, subfamily C, member 6 xref: ENSEMBL:ENSG00000137672 xref: GENATLAS:TRPC6 xref: HGNC:12338 xref: IUPHAR:491 xref: OMIM:603652 xref: REACTOME:Q9Y210 xref: UNIPROTKB/SWISSPROT:Q9Y210 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93213 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis property_value: alternative:term "TRP6" xsd:string property_value: symbol "TRPC6" xsd:string [Term] id: Orphanet:1203 name: Duodenal atresia xref: ICD10:Q41.0 xref: MEDDRA:10013812 xref: MESH:C535720 xref: OMIM:223400 xref: SNOMED CT:51118003 xref: UMLS:C0266174 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:108963 ! Nonsyndromic gastroduodenal malformation [Term] id: Orphanet:120301 name: transient receptor potential cation channel, subfamily M, member 6 xref: ENSEMBL:ENSG00000119121 xref: GENATLAS:TRPM6 xref: HGNC:17995 xref: IUPHAR:498 xref: OMIM:607009 xref: REACTOME:Q9BX84 xref: UNIPROTKB/SWISSPROT:Q9BX84 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:30924 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia property_value: alternative:term "CHAK2" xsd:string property_value: alternative:term "FLJ22628" xsd:string property_value: alternative:term "HOMG" xsd:string property_value: alternative:term "HSH" xsd:string property_value: alternative:term "hypomagnesemia, secondary hypocalcemia" xsd:string property_value: symbol "TRPM6" xsd:string [Term] id: Orphanet:120307 name: trichorhinophalangeal syndrome I xref: ENSEMBL:ENSG00000104447 xref: GENATLAS:TRPS1 xref: HGNC:12340 xref: OMIM:604386 xref: UNIPROTKB/SWISSPROT:Q9UHF7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:77258 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Trichorhinophalangeal syndrome type 1 and 3 relationship: Orphanet:317349 Orphanet:502 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Langer-Giedion syndrome property_value: alternative:term "LGCR" xsd:string property_value: symbol "TRPS1" xsd:string [Term] id: Orphanet:120309 name: tuberous sclerosis 1 xref: ENSEMBL:ENSG00000165699 xref: GENATLAS:TSC1 xref: HGNC:12362 xref: OMIM:605284 xref: REACTOME:Q92574 xref: UNIPROTKB/SWISSPROT:Q92574 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:805 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tuberous sclerosis relationship: Orphanet:317344 Orphanet:538 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lymphangioleiomyomatosis relationship: Orphanet:317345 Orphanet:269008 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Isolated focal cortical dysplasia type IIb property_value: alternative:term "hamartin" xsd:string property_value: alternative:term "KIAA0243" xsd:string property_value: alternative:term "LAM" xsd:string property_value: alternative:term "TSC" xsd:string property_value: symbol "TSC1" xsd:string [Term] id: Orphanet:120315 name: tuberous sclerosis 2 xref: ENSEMBL:ENSG00000103197 xref: GENATLAS:TSC2 xref: HGNC:12363 xref: OMIM:191092 xref: REACTOME:P49815 xref: UNIPROTKB/SWISSPROT:P49815 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:805 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tuberous sclerosis relationship: Orphanet:317344 Orphanet:538 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lymphangioleiomyomatosis relationship: Orphanet:317349 Orphanet:88924 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis property_value: alternative:term "LAM" xsd:string property_value: alternative:term "TSC4" xsd:string property_value: alternative:term "tuberin" xsd:string property_value: symbol "TSC2" xsd:string [Term] id: Orphanet:120320 name: thyroid stimulating hormone receptor xref: ENSEMBL:ENSG00000165409 xref: GENATLAS:TSHR xref: HGNC:12373 xref: IUPHAR:255 xref: OMIM:603372 xref: REACTOME:P16473 xref: UNIPROTKB/SWISSPROT:P16473 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:424 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hyperthyroidism due to mutations in TSH receptor relationship: Orphanet:317343 Orphanet:90673 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypothyroidism due to TSH receptor mutations relationship: Orphanet:317343 Orphanet:95713 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Athyreosis relationship: Orphanet:317343 Orphanet:95720 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thyroid hypoplasia relationship: Orphanet:317343 Orphanet:99819 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial gestational hyperthyroidism property_value: alternative:term "LGR3" xsd:string property_value: symbol "TSHR" xsd:string [Term] id: Orphanet:120323 name: tetratricopeptide repeat domain 8 xref: ENSEMBL:ENSG00000165533 xref: GENATLAS:TTC8 xref: HGNC:20087 xref: OMIM:608132 xref: UNIPROTKB/SWISSPROT:Q8TAM2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bardet-Biedl syndrome relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "BBS8" xsd:string property_value: alternative:term "RP51" xsd:string property_value: symbol "TTC8" xsd:string [Term] id: Orphanet:120326 name: titin xref: ENSEMBL:ENSG00000155657 xref: GENATLAS:TTN xref: HGNC:12403 xref: IUPHAR:2265 xref: OMIM:188840 xref: REACTOME:Q8WZ42 xref: UNIPROTKB/SWISSPROT:Q8WZ42 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:140922 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive limb-girdle muscular dystrophy type 2J relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317343 Orphanet:169186 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive centronuclear myopathy relationship: Orphanet:317343 Orphanet:178464 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary proximal myopathy with early respiratory failure relationship: Orphanet:317343 Orphanet:289377 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early-onset myopathy with fatal cardiomyopathy relationship: Orphanet:317343 Orphanet:293888 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, left dominant form relationship: Orphanet:317343 Orphanet:293899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, biventricular form relationship: Orphanet:317343 Orphanet:293910 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, right dominant form relationship: Orphanet:317343 Orphanet:609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tibial muscular dystrophy property_value: alternative:term "cardiomyopathy, dilated 1G (autosomal dominant)" xsd:string property_value: alternative:term "CMD1G" xsd:string property_value: alternative:term "CMH9" xsd:string property_value: alternative:term "CMPD4" xsd:string property_value: alternative:term "FLJ32040" xsd:string property_value: alternative:term "LGMD2J" xsd:string property_value: alternative:term "MYLK5" xsd:string property_value: alternative:term "TMD" xsd:string property_value: symbol "TTN" xsd:string [Term] id: Orphanet:120334 name: tocopherol (alpha) transfer protein xref: ENSEMBL:ENSG00000137561 xref: GENATLAS:TTPA xref: HGNC:12404 xref: OMIM:600415 xref: UNIPROTKB/SWISSPROT:P49638 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:96 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ataxia with vitamin E deficiency property_value: alternative:term "ataxia (Friedreich-like) with vitamin E deficiency" xsd:string property_value: alternative:term "AVED" xsd:string property_value: symbol "TTPA" xsd:string [Term] id: Orphanet:120337 name: transthyretin xref: ENSEMBL:ENSG00000118271 xref: GENATLAS:TTR xref: HGNC:12405 xref: OMIM:176300 xref: REACTOME:P02766 xref: UNIPROTKB/SWISSPROT:P02766 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:85447 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial amyloid polyneuropathy relationship: Orphanet:317343 Orphanet:85451 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Transthyretin-related familial amyloid cardiomyopathy property_value: alternative:term "HsT2651" xsd:string property_value: alternative:term "PALB" xsd:string property_value: alternative:term "prealbumin, amyloidosis type I" xsd:string property_value: alternative:term "Transthyretin (prealbumin, amyloidosis type I)" xsd:string property_value: symbol "TTR" xsd:string [Term] id: Orphanet:120341 name: tubby like protein 1 xref: ENSEMBL:ENSG00000112041 xref: GENATLAS:TULP1 xref: HGNC:12423 xref: OMIM:602280 xref: UNIPROTKB/SWISSPROT:O00294 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:65 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber congenital amaurosis relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "RP14" xsd:string property_value: alternative:term "TUBL1" xsd:string property_value: symbol "TULP1" xsd:string [Term] id: Orphanet:120345 name: twist family bHLH transcription factor 1 xref: ENSEMBL:ENSG00000122691 xref: GENATLAS:TWIST1 xref: HGNC:12428 xref: OMIM:601622 xref: UNIPROTKB/SWISSPROT:Q15672 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:35093 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated scaphocephaly relationship: Orphanet:317343 Orphanet:35099 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated brachycephaly relationship: Orphanet:317343 Orphanet:794 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Saethre-Chotzen syndrome property_value: alternative:term "acrocephalosyndactyly 3" xsd:string property_value: alternative:term "ACS3" xsd:string property_value: alternative:term "bHLHa38" xsd:string property_value: alternative:term "blepharophimosis, epicanthus inversus and ptosis 3" xsd:string property_value: alternative:term "BPES2" xsd:string property_value: alternative:term "BPES3" xsd:string property_value: alternative:term "H-twist" xsd:string property_value: alternative:term "Saethre-Chotzen syndrome" xsd:string property_value: alternative:term "SCS" xsd:string property_value: alternative:term "TWIST" xsd:string property_value: alternative:term "twist basic helix-loop-helix transcription factor 1" xsd:string property_value: alternative:term "Twist homolog 1 (Drosophila)" xsd:string property_value: symbol "TWIST1" xsd:string [Term] id: Orphanet:120353 name: tyrosinase xref: ENSEMBL:ENSG00000077498 xref: GENATLAS:TYR xref: HGNC:12442 xref: IUPHAR:2643 xref: OMIM:606933 xref: UNIPROTKB/SWISSPROT:P14679 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352734 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Minimal pigment oculocutaneous albinism type 1 relationship: Orphanet:317343 Orphanet:352737 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Temperature-sensitive oculocutaneous albinism type 1 relationship: Orphanet:317343 Orphanet:352740 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ocular albinism with congenital sensorineural deafness relationship: Orphanet:317343 Orphanet:79431 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oculocutaneous albinism type 1A relationship: Orphanet:317343 Orphanet:79434 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oculocutaneous albinism type 1B property_value: alternative:term "OCA1" xsd:string property_value: alternative:term "OCA1A" xsd:string property_value: alternative:term "OCAIA" xsd:string property_value: alternative:term "oculocutaneous albinism IA" xsd:string property_value: alternative:term "Tyrosinase (oculocutaneous albinism IA)" xsd:string property_value: symbol "TYR" xsd:string [Term] id: Orphanet:120356 name: TYRO protein tyrosine kinase binding protein xref: ENSEMBL:ENSG00000011600 xref: GENATLAS:TYROBP xref: HGNC:12449 xref: OMIM:604142 xref: REACTOME:O43914 xref: UNIPROTKB/SWISSPROT:O43914 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2770 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nasu-Hakola disease property_value: alternative:term "DAP12" xsd:string property_value: alternative:term "DNAX-activation protein 12" xsd:string property_value: alternative:term "KARAP" xsd:string property_value: alternative:term "killer activating receptor associated protein" xsd:string property_value: alternative:term "PLO-SL" xsd:string property_value: alternative:term "PLOSL" xsd:string property_value: symbol "TYROBP" xsd:string [Term] id: Orphanet:120361 name: tyrosinase-related protein 1 xref: ENSEMBL:ENSG00000107165 xref: GENATLAS:TYRP1 xref: HGNC:12450 xref: OMIM:115501 xref: UNIPROTKB/SWISSPROT:P17643 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79433 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oculocutaneous albinism type 3 property_value: alternative:term "b-PROTEIN" xsd:string property_value: alternative:term "CAS2" xsd:string property_value: alternative:term "CATB" xsd:string property_value: alternative:term "GP75" xsd:string property_value: alternative:term "OCA3" xsd:string property_value: alternative:term "TRP" xsd:string property_value: alternative:term "TYRP" xsd:string property_value: symbol "TYRP1" xsd:string [Term] id: Orphanet:120365 name: ubiquitin protein ligase E3A xref: ENSEMBL:ENSG00000114062 xref: GENATLAS:UBE3A xref: HGNC:12496 xref: OMIM:601623 xref: REACTOME:Q05086 xref: UNIPROTKB/SWISSPROT:Q05086 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:72 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Angelman syndrome relationship: Orphanet:317349 Orphanet:72 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Angelman syndrome property_value: alternative:term "ANCR" xsd:string property_value: alternative:term "Angelman syndrome" xsd:string property_value: alternative:term "AS" xsd:string property_value: alternative:term "E6-AP" xsd:string property_value: alternative:term "EPVE6AP" xsd:string property_value: alternative:term "FLJ26981" xsd:string property_value: alternative:term "HPVE6A" xsd:string property_value: alternative:term "human papilloma virus E6-associated protein" xsd:string property_value: alternative:term "Ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome)" xsd:string property_value: symbol "UBE3A" xsd:string [Term] id: Orphanet:120373 name: ubiquitin protein ligase E3 component n-recognin 1 xref: ENSEMBL:ENSG00000159459 xref: GENATLAS:UBR1 xref: HGNC:16808 xref: OMIM:605981 xref: REACTOME:Q8IWV7 xref: UNIPROTKB/SWISSPROT:Q8IWV7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2315 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Johanson-Blizzard syndrome property_value: symbol "UBR1" xsd:string [Term] id: Orphanet:120375 name: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) xref: ENSEMBL:ENSG00000154277 xref: GENATLAS:UCHL1 xref: HGNC:12513 xref: IUPHAR:2426 xref: OMIM:191342 xref: UNIPROTKB/SWISSPROT:P09936 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2828 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Young adult-onset Parkinsonism relationship: Orphanet:317343 Orphanet:352654 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early-onset progressive neurodegeneration - blindness - ataxia - spasticity property_value: alternative:term "PARK5" xsd:string property_value: alternative:term "PGP9.5" xsd:string property_value: alternative:term "Uch-L1" xsd:string property_value: symbol "UCHL1" xsd:string [Term] id: Orphanet:120380 name: UDP glucuronosyltransferase 1 family, polypeptide A1 xref: ENSEMBL:ENSG00000241635 xref: GENATLAS:UGT1A1 xref: HGNC:12530 xref: OMIM:191740 xref: REACTOME:P22309 xref: UNIPROTKB/SWISSPROT:P22309 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79234 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Crigler-Najjar syndrome type 1 relationship: Orphanet:317343 Orphanet:79235 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Crigler-Najjar syndrome type 2 relationship: Orphanet:317345 Orphanet:2312 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Transient familial neonatal hyperbilirubinemia property_value: alternative:term "GNT1" xsd:string property_value: alternative:term "UDP glycosyltransferase 1 family, polypeptide A1" xsd:string property_value: alternative:term "UGT1" xsd:string property_value: alternative:term "UGT1A" xsd:string property_value: symbol "UGT1A1" xsd:string [Term] id: Orphanet:120412 name: uromodulin xref: ENSEMBL:ENSG00000169344 xref: GENATLAS:UMOD xref: HGNC:12559 xref: OMIM:191845 xref: UNIPROTKB/SWISSPROT:P07911 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:209886 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial juvenile hyperuricemic nephropathy type 1 relationship: Orphanet:317343 Orphanet:34149 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant medullary cystic kidney disease with or without hyperuricemia property_value: alternative:term "Tamm-Horsfall glycoprotein" xsd:string property_value: alternative:term "Uromodulin (uromucoid, Tamm-Horsfall glycoprotein)" xsd:string property_value: alternative:term "uromucoid" xsd:string property_value: symbol "UMOD" xsd:string [Term] id: Orphanet:120414 name: uridine monophosphate synthetase xref: ENSEMBL:ENSG00000114491 xref: GENATLAS:UMPS xref: HGNC:12563 xref: OMIM:613891 xref: REACTOME:P11172 xref: UNIPROTKB/SWISSPROT:P11172 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:30 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary orotic aciduria property_value: alternative:term "orotate phosphoribosyl transferase and orotidine-5'-decarboxylase" xsd:string property_value: alternative:term "Uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase)" xsd:string property_value: symbol "UMPS" xsd:string [Term] id: Orphanet:120416 name: unc-13 homolog D (C. elegans) xref: ENSEMBL:ENSG00000092929 xref: GENATLAS:UNC13D xref: HGNC:23147 xref: OMIM:608897 xref: UNIPROTKB/SWISSPROT:Q70J99 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:540 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hemophagocytic lymphohistiocytosis property_value: alternative:term "Munc13-4" xsd:string property_value: symbol "UNC13D" xsd:string [Term] id: Orphanet:120419 name: unc-93 homolog B1 (C. elegans) xref: ENSEMBL:ENSG00000110057 xref: GENATLAS:UNC93B1 xref: HGNC:13481 xref: OMIM:608204 xref: REACTOME:Q9H1C4 xref: UNIPROTKB/SWISSPROT:Q9H1C4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:1930 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Herpetic encephalitis property_value: alternative:term "UNC93" xsd:string property_value: alternative:term "unc93 (C. elegans) homolog B1" xsd:string property_value: symbol "UNC93B1" xsd:string [Term] id: Orphanet:120421 name: uracil-DNA glycosylase xref: ENSEMBL:ENSG00000076248 xref: GENATLAS:UNG xref: HGNC:12572 xref: OMIM:191525 xref: UNIPROTKB/SWISSPROT:P13051 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101092 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyper-IgM syndrome type 5 property_value: alternative:term "DGU" xsd:string property_value: alternative:term "HIGM4" xsd:string property_value: alternative:term "UDG" xsd:string property_value: alternative:term "UNG1" xsd:string property_value: alternative:term "UNG2" xsd:string property_value: alternative:term "uracil-DNA glycosylase 1, uracil-DNA glycosylase 2" xsd:string property_value: symbol "UNG" xsd:string [Term] id: Orphanet:120426 name: ureidopropionase, beta xref: ENSEMBL:ENSG00000100024 xref: GENATLAS:UPB1 xref: HGNC:16297 xref: OMIM:606673 xref: REACTOME:Q9UBR1 xref: UNIPROTKB/SWISSPROT:Q9UBR1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:65287 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Beta-ureidopropionase deficiency property_value: alternative:term "BUP1" xsd:string property_value: symbol "UPB1" xsd:string [Term] id: Orphanet:120429 name: uroporphyrinogen decarboxylase xref: ENSEMBL:ENSG00000126088 xref: GENATLAS:UROD xref: HGNC:12591 xref: OMIM:613521 xref: REACTOME:P06132 xref: UNIPROTKB/SWISSPROT:P06132 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101330 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Porphyria cutanea tarda relationship: Orphanet:317343 Orphanet:95159 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hepatoerythropoietic porphyria property_value: symbol "UROD" xsd:string [Term] id: Orphanet:120431 name: uroporphyrinogen III synthase xref: ENSEMBL:ENSG00000188690 xref: GENATLAS:UROS xref: HGNC:12592 xref: OMIM:606938 xref: REACTOME:P10746 xref: UNIPROTKB/SWISSPROT:P10746 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79277 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital erythropoietic porphyria property_value: alternative:term "congenital erythropoietic porphyria" xsd:string property_value: alternative:term "Uroporphyrinogen III synthase (congenital erythropoietic porphyria)" xsd:string property_value: symbol "UROS" xsd:string [Term] id: Orphanet:120433 name: Usher syndrome 1C (autosomal recessive, severe) xref: ENSEMBL:ENSG00000006611 xref: GENATLAS:USH1C xref: HGNC:12597 xref: OMIM:605242 xref: UNIPROTKB/SWISSPROT:Q9Y6N9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231169 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Usher syndrome type 1 relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "AIE-75" xsd:string property_value: alternative:term "deafness, autosomal recessive 18" xsd:string property_value: alternative:term "DFNB18" xsd:string property_value: alternative:term "harmonin" xsd:string property_value: alternative:term "NY-CO-37" xsd:string property_value: alternative:term "NY-CO-38" xsd:string property_value: alternative:term "PDZ-73" xsd:string property_value: alternative:term "PDZ-73/NY-CO-38" xsd:string property_value: alternative:term "PDZ73" xsd:string property_value: alternative:term "PDZD7C" xsd:string property_value: symbol "USH1C" xsd:string [Term] id: Orphanet:120442 name: Usher syndrome 1G (autosomal recessive) xref: ENSEMBL:ENSG00000182040 xref: GENATLAS:USH1G xref: HGNC:16356 xref: OMIM:607696 xref: UNIPROTKB/SWISSPROT:Q495M9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231169 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Usher syndrome type 1 property_value: alternative:term "ANKS4A" xsd:string property_value: alternative:term "FLJ33924" xsd:string property_value: alternative:term "Sans" xsd:string property_value: symbol "USH1G" xsd:string [Term] id: Orphanet:120447 name: Usher syndrome 2A (autosomal recessive, mild) xref: ENSEMBL:ENSG00000042781 xref: GENATLAS:USH2A xref: HGNC:12601 xref: OMIM:608400 xref: UNIPROTKB/SWISSPROT:O75445 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231178 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Usher syndrome type 2 relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "RP39" xsd:string property_value: alternative:term "USH2" xsd:string property_value: alternative:term "usherin" xsd:string property_value: symbol "USH2A" xsd:string [Term] id: Orphanet:120450 name: ubiquitin specific peptidase 9, Y-linked xref: ENSEMBL:ENSG00000114374 xref: GENATLAS:USP9Y xref: HGNC:12633 xref: OMIM:400005 xref: UNIPROTKB/SWISSPROT:O00507 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:1646 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Partial chromosome Y deletion property_value: alternative:term "AZF" xsd:string property_value: alternative:term "AZF1" xsd:string property_value: alternative:term "DFFRY" xsd:string property_value: alternative:term "fat facets-like homolog (Drosophila)" xsd:string property_value: alternative:term "Ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)" xsd:string property_value: symbol "USP9Y" xsd:string [Term] id: Orphanet:120453 name: VAMP (vesicle-associated membrane protein)-associated protein B and C xref: ENSEMBL:ENSG00000124164 xref: GENATLAS:VAPB xref: HGNC:12649 xref: OMIM:605704 xref: REACTOME:O95292 xref: UNIPROTKB/SWISSPROT:O95292 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:209335 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adult-onset proximal spinal muscular atrophy, autosomal dominant relationship: Orphanet:317343 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis property_value: alternative:term "ALS8" xsd:string property_value: alternative:term "VAP-B" xsd:string property_value: alternative:term "VAP-C" xsd:string property_value: symbol "VAPB" xsd:string [Term] id: Orphanet:120457 name: versican xref: ENSEMBL:ENSG00000038427 xref: GENATLAS:VCAN xref: HGNC:2464 xref: OMIM:118661 xref: REACTOME:P13611 xref: UNIPROTKB/SWISSPROT:P13611 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:898 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Wagner disease property_value: alternative:term "chondroitin sulfate proteoglycan 2" xsd:string property_value: alternative:term "CSPG2" xsd:string property_value: alternative:term "PG-M" xsd:string property_value: alternative:term "versican proteoglycan" xsd:string property_value: symbol "VCAN" xsd:string [Term] id: Orphanet:120461 name: valosin containing protein xref: ENSEMBL:ENSG00000165280 xref: GENATLAS:VCP xref: HGNC:12666 xref: OMIM:601023 xref: UNIPROTKB/SWISSPROT:P55072 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:329475 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spastic paraplegia - Paget disease of bone relationship: Orphanet:317343 Orphanet:329478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adult-onset distal myopathy due to VCP mutation relationship: Orphanet:317343 Orphanet:52430 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Inclusion body myopathy with Paget disease of bone and frontotemporal dementia relationship: Orphanet:317343 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis relationship: Orphanet:317345 Orphanet:100069 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Semantic dementia relationship: Orphanet:317345 Orphanet:100070 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Progressive non-fluent aphasia relationship: Orphanet:317345 Orphanet:275864 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Behavioral variant of frontotemporal dementia property_value: alternative:term "IBMPFD" xsd:string property_value: alternative:term "p97" xsd:string property_value: alternative:term "Valosin-containing protein" xsd:string property_value: symbol "VCP" xsd:string [Term] id: Orphanet:120464 name: vitamin D (1,25- dihydroxyvitamin D3) receptor xref: ENSEMBL:ENSG00000111424 xref: GENATLAS:VDR xref: HGNC:12679 xref: IUPHAR:605 xref: OMIM:601769 xref: REACTOME:P11473 xref: UNIPROTKB/SWISSPROT:P11473 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93160 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypocalcemic vitamin D-resistant rickets property_value: alternative:term "NR1I1" xsd:string property_value: symbol "VDR" xsd:string [Term] id: Orphanet:120467 name: von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase xref: ENSEMBL:ENSG00000134086 xref: GENATLAS:VHL xref: HGNC:12687 xref: OMIM:608537 xref: REACTOME:P40337 xref: UNIPROTKB/SWISSPROT:P40337 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:238557 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chuvash erythrocytosis relationship: Orphanet:317343 Orphanet:892 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Von Hippel-Lindau disease property_value: alternative:term "VHL1" xsd:string property_value: alternative:term "von Hippel-Lindau syndrome" xsd:string property_value: alternative:term "Von Hippel-Lindau tumor suppressor" xsd:string property_value: symbol "VHL" xsd:string [Term] id: Orphanet:120470 name: very low density lipoprotein receptor xref: ENSEMBL:ENSG00000147852 xref: GENATLAS:VLDLR xref: HGNC:12698 xref: OMIM:192977 xref: UNIPROTKB/SWISSPROT:P98155 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1766 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dysequilibrium syndrome property_value: alternative:term "CARMQ1" xsd:string property_value: alternative:term "CHRMQ1" xsd:string property_value: alternative:term "VLDLRCH" xsd:string property_value: symbol "VLDLR" xsd:string [Term] id: Orphanet:120472 name: vacuolar protein sorting 13 homolog A (S. cerevisiae) xref: ENSEMBL:ENSG00000197969 xref: GENATLAS:VPS13A xref: HGNC:1908 xref: OMIM:605978 xref: UNIPROTKB/SWISSPROT:Q96RL7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2388 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Choreoacanthocytosis property_value: alternative:term "CHAC" xsd:string property_value: alternative:term "chorea acanthocytosis" xsd:string property_value: alternative:term "KIAA0986" xsd:string property_value: alternative:term "vacuolar protein sorting 13A (yeast)" xsd:string property_value: symbol "VPS13A" xsd:string [Term] id: Orphanet:120476 name: vacuolar protein sorting 13 homolog B (yeast) xref: ENSEMBL:ENSG00000132549 xref: GENATLAS:VPS13B xref: HGNC:2183 xref: OMIM:607817 xref: UNIPROTKB/SWISSPROT:Q7Z7G8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:193 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cohen syndrome property_value: alternative:term "CHS1" xsd:string property_value: alternative:term "COH1" xsd:string property_value: alternative:term "Cohen syndrome 1" xsd:string property_value: symbol "VPS13B" xsd:string [Term] id: Orphanet:120480 name: vacuolar protein sorting 33 homolog B (yeast) xref: ENSEMBL:ENSG00000184056 xref: GENATLAS:VPS33B xref: HGNC:12712 xref: OMIM:608552 xref: UNIPROTKB/SWISSPROT:Q9H267 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2697 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Arthrogryposis - renal dysfunction - cholestasis property_value: alternative:term "FLJ14848" xsd:string property_value: alternative:term "vacuolar protein sorting 33B (yeast homolog)" xsd:string property_value: symbol "VPS33B" xsd:string [Term] id: Orphanet:120483 name: visual system homeobox 1 xref: ENSEMBL:ENSG00000100987 xref: GENATLAS:VSX1 xref: HGNC:12723 xref: OMIM:605020 xref: UNIPROTKB/SWISSPROT:Q9NZR4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98973 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Posterior polymorphous corneal dystrophy property_value: alternative:term "posterior polymorphous corneal dystrophy" xsd:string property_value: alternative:term "PPCD" xsd:string property_value: alternative:term "PPD" xsd:string property_value: alternative:term "visual system homeobox 1 homolog, CHX10-like (zebrafish)" xsd:string property_value: symbol "VSX1" xsd:string [Term] id: Orphanet:120487 name: von Willebrand factor xref: ENSEMBL:ENSG00000110799 xref: GENATLAS:VWF xref: HGNC:12726 xref: OMIM:613160 xref: REACTOME:P04275 xref: UNIPROTKB/SWISSPROT:P04275 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:166078 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Von Willebrand disease type 1 relationship: Orphanet:317343 Orphanet:166084 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Von Willebrand disease type 2A relationship: Orphanet:317343 Orphanet:166087 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Von Willebrand disease type 2B relationship: Orphanet:317343 Orphanet:166090 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Von Willebrand disease type 2M relationship: Orphanet:317343 Orphanet:166093 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Von Willebrand disease type 2N relationship: Orphanet:317343 Orphanet:166096 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Von Willebrand disease type 3 property_value: alternative:term "F8VWF" xsd:string property_value: symbol "VWF" xsd:string [Term] id: Orphanet:120490 name: Wiskott-Aldrich syndrome (Gen) xref: ENSEMBL:ENSG00000015285 xref: GENATLAS:WAS xref: HGNC:12731 xref: OMIM:300392 xref: REACTOME:P42768 xref: UNIPROTKB/SWISSPROT:P42768 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:852 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked thrombocytopenia with normal platelets relationship: Orphanet:317343 Orphanet:86788 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked severe congenital neutropenia relationship: Orphanet:317343 Orphanet:906 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Wiskott-Aldrich syndrome property_value: alternative:term "eczema-thrombocytopenia" xsd:string property_value: alternative:term "IMD2" xsd:string property_value: alternative:term "THC" xsd:string property_value: alternative:term "thrombocytopenia 1 (X-linked)" xsd:string property_value: alternative:term "WASP" xsd:string property_value: alternative:term "Wiskott-Aldrich syndrome (eczema-thrombocytopenia)" xsd:string property_value: symbol "WAS" xsd:string [Term] id: Orphanet:120495 name: Williams-Beuren syndrome chromosome region 16 xref: ENSEMBL:ENSG00000174374 xref: GENATLAS:WBSCR16 xref: HGNC:14948 xref: UNIPROTKB/SWISSPROT:Q96I51 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Williams syndrome property_value: symbol "WBSCR16" xsd:string [Term] id: Orphanet:120497 name: Williams Beuren syndrome chromosome region 22 xref: ENSEMBL:ENSG00000071462 xref: GENATLAS:WBSCR22 xref: HGNC:16405 xref: UNIPROTKB/SWISSPROT:O43709 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Williams syndrome property_value: alternative:term "MERM1" xsd:string property_value: alternative:term "metastasis-related methyltransferase 1" xsd:string property_value: alternative:term "MGC19709" xsd:string property_value: alternative:term "MGC2022" xsd:string property_value: alternative:term "MGC5140" xsd:string property_value: alternative:term "PP3381" xsd:string property_value: alternative:term "WBMT" xsd:string property_value: symbol "WBSCR22" xsd:string [Term] id: Orphanet:1205 name: Mitral atresia xref: ICD10:Q23.2 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95464 ! Congenital mitral valve insufficiency and/or stenosis [Term] id: Orphanet:120507 name: Williams Beuren syndrome chromosome region 27 xref: ENSEMBL:ENSG00000165171 xref: GENATLAS:WBSCR27 xref: HGNC:19068 xref: OMIM:612546 xref: UNIPROTKB/SWISSPROT:Q8N6F8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Williams syndrome property_value: symbol "WBSCR27" xsd:string [Term] id: Orphanet:120514 name: Wolfram syndrome 1 (wolframin) xref: ENSEMBL:ENSG00000109501 xref: GENATLAS:WFS1 xref: HGNC:12762 xref: OMIM:606201 xref: REACTOME:O76024 xref: UNIPROTKB/SWISSPROT:O76024 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3463 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Wolfram syndrome relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA relationship: Orphanet:317343 Orphanet:98991 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nuclear cataract property_value: alternative:term "DFNA14" xsd:string property_value: alternative:term "DFNA38" xsd:string property_value: alternative:term "DFNA6" xsd:string property_value: alternative:term "DIDMOAD" xsd:string property_value: alternative:term "WFS" xsd:string property_value: symbol "WFS1" xsd:string [Term] id: Orphanet:120521 name: Wolf-Hirschhorn syndrome candidate 1 xref: ENSEMBL:ENSG00000109685 xref: GENATLAS:WHSC1 xref: HGNC:12766 xref: OMIM:602952 xref: UNIPROTKB/SWISSPROT:O96028 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:280 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Wolf-Hirschhorn syndrome property_value: alternative:term "MMSET" xsd:string property_value: alternative:term "NSD2" xsd:string property_value: symbol "WHSC1" xsd:string [Term] id: Orphanet:120525 name: negative elongation factor complex member A xref: ENSEMBL:ENSG00000185049 xref: GENATLAS:WHSC2 xref: HGNC:12768 xref: OMIM:606026 xref: REACTOME:Q9H3P2 xref: UNIPROTKB/SWISSPROT:Q9H3P2 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:280 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Wolf-Hirschhorn syndrome property_value: alternative:term "NELF-A" xsd:string property_value: alternative:term "WHSC2" xsd:string property_value: alternative:term "Wolf-Hirschhorn syndrome candidate 2" xsd:string property_value: symbol "NELFA" xsd:string [Term] id: Orphanet:120528 name: WNT1 inducible signaling pathway protein 3 xref: ENSEMBL:ENSG00000112761 xref: GENATLAS:WISP3 xref: HGNC:12771 xref: OMIM:603400 xref: UNIPROTKB/SWISSPROT:O95389 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1159 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive pseudorheumatoid arthropathy of childhood property_value: alternative:term "CCN6" xsd:string property_value: symbol "WISP3" xsd:string [Term] id: Orphanet:120531 name: WNK lysine deficient protein kinase 1 xref: ENSEMBL:ENSG00000060237 xref: GENATLAS:WNK1 xref: HGNC:14540 xref: IUPHAR:2280 xref: OMIM:605232 xref: UNIPROTKB/SWISSPROT:Q9H4A3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88940 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pseudohypoaldosteronism type 2C relationship: Orphanet:317343 Orphanet:970 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary sensory and autonomic neuropathy type 2 property_value: alternative:term "hereditary sensory neuropathy, type II" xsd:string property_value: alternative:term "HSAN2" xsd:string property_value: alternative:term "HSN2" xsd:string property_value: alternative:term "PRKWNK1" xsd:string property_value: alternative:term "protein kinase, lysine deficient 1" xsd:string property_value: symbol "WNK1" xsd:string [Term] id: Orphanet:120534 name: WNK lysine deficient protein kinase 4 xref: ENSEMBL:ENSG00000126562 xref: GENATLAS:WNK4 xref: HGNC:14544 xref: IUPHAR:2283 xref: OMIM:601844 xref: UNIPROTKB/SWISSPROT:Q96J92 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88939 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pseudohypoaldosteronism type 2B property_value: alternative:term "PRKWNK4" xsd:string property_value: alternative:term "protein kinase, lysine deficient 4" xsd:string property_value: symbol "WNK4" xsd:string [Term] id: Orphanet:120537 name: wingless-type MMTV integration site family, member 3 xref: ENSEMBL:ENSG00000108379 xref: GENATLAS:WNT3 xref: HGNC:12782 xref: OMIM:165330 xref: REACTOME:P56703 xref: UNIPROTKB/SWISSPROT:P56703 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3301 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tetraamelia - multiple malformations property_value: alternative:term "INT4" xsd:string property_value: alternative:term "MGC131950" xsd:string property_value: alternative:term "MGC138321" xsd:string property_value: alternative:term "MGC138323" xsd:string property_value: alternative:term "WNT-3 proto-oncogene protein" xsd:string property_value: symbol "WNT3" xsd:string [Term] id: Orphanet:120540 name: wingless-type MMTV integration site family, member 4 xref: ENSEMBL:ENSG00000162552 xref: GENATLAS:WNT4 xref: HGNC:12783 xref: OMIM:603490 xref: REACTOME:P56705 xref: UNIPROTKB/SWISSPROT:P56705 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:139466 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! SERKAL syndrome relationship: Orphanet:317343 Orphanet:247768 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atypical Mayer-Rokitansky-Küster-Hauser syndrome property_value: alternative:term "WNT-4" xsd:string property_value: symbol "WNT4" xsd:string [Term] id: Orphanet:120543 name: wingless-type MMTV integration site family, member 7A xref: ENSEMBL:ENSG00000154764 xref: GENATLAS:WNT7A xref: HGNC:12786 xref: OMIM:601570 xref: REACTOME:O00755 xref: UNIPROTKB/SWISSPROT:O00755 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2854 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fuhrmann syndrome relationship: Orphanet:317343 Orphanet:2879 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Phocomelia, Schinzel type property_value: alternative:term "proto-oncogene Wnt7a protein" xsd:string property_value: symbol "WNT7A" xsd:string [Term] id: Orphanet:120545 name: Werner syndrome, RecQ helicase-like xref: ENSEMBL:ENSG00000165392 xref: GENATLAS:WRN xref: HGNC:12791 xref: OMIM:604611 xref: UNIPROTKB/SWISSPROT:Q14191 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:902 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Werner syndrome property_value: alternative:term "RECQ3" xsd:string property_value: alternative:term "RECQL2" xsd:string property_value: alternative:term "Werner syndrome" xsd:string property_value: alternative:term "Werner syndrome gene" xsd:string property_value: symbol "WRN" xsd:string [Term] id: Orphanet:120549 name: Wilms tumor 1 xref: ENSEMBL:ENSG00000184937 xref: GENATLAS:WT1 xref: HGNC:12796 xref: OMIM:607102 xref: UNIPROTKB/SWISSPROT:P19544 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Denys-Drash syndrome relationship: Orphanet:317343 Orphanet:3097 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Meacham syndrome relationship: Orphanet:317343 Orphanet:347 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Frasier syndrome relationship: Orphanet:317343 Orphanet:93213 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis relationship: Orphanet:317343 Orphanet:93217 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis relationship: Orphanet:317343 Orphanet:93220 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis relationship: Orphanet:317344 Orphanet:654 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nephroblastoma relationship: Orphanet:317345 Orphanet:654 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nephroblastoma relationship: Orphanet:317346 Orphanet:251510 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XY partial gonadal dysgenesis relationship: Orphanet:317348 Orphanet:83469 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Desmoplastic small round cell tumor relationship: Orphanet:317349 Orphanet:893 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! WAGR syndrome property_value: alternative:term "AWT1" xsd:string property_value: alternative:term "GUD" xsd:string property_value: alternative:term "WAGR" xsd:string property_value: alternative:term "WIT-2" xsd:string property_value: symbol "WT1" xsd:string [Term] id: Orphanet:120554 name: WW domain containing oxidoreductase xref: ENSEMBL:ENSG00000186153 xref: GENATLAS:WWOX xref: HGNC:12799 xref: OMIM:605131 xref: REACTOME:Q9NZC7 xref: UNIPROTKB/SWISSPROT:Q9NZC7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:251510 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XY partial gonadal dysgenesis property_value: alternative:term "FOR" xsd:string property_value: alternative:term "SDR41C1" xsd:string property_value: alternative:term "short chain dehydrogenase/reductase family 41C, member 1" xsd:string property_value: alternative:term "WOX1" xsd:string property_value: alternative:term "WW domain-containing oxidoreductase" xsd:string property_value: symbol "WWOX" xsd:string [Term] id: Orphanet:120558 name: xanthine dehydrogenase xref: ENSEMBL:ENSG00000158125 xref: GENATLAS:XDH xref: HGNC:12805 xref: IUPHAR:2646 xref: OMIM:607633 xref: REACTOME:P47989 xref: UNIPROTKB/SWISSPROT:P47989 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93601 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Xanthinuria type I property_value: alternative:term "xanthene dehydrogenase" xsd:string property_value: alternative:term "XO" xsd:string property_value: alternative:term "XOR" xsd:string property_value: symbol "XDH" xsd:string [Term] id: Orphanet:120562 name: X-linked Kx blood group (McLeod syndrome) xref: ENSEMBL:ENSG00000047597 xref: GENATLAS:XK xref: HGNC:12811 xref: OMIM:314850 xref: UNIPROTKB/SWISSPROT:P51811 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:59306 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! McLeod neuroacanthocytosis syndrome property_value: alternative:term "Kell blood group precursor (McLeod phenotype)" xsd:string property_value: alternative:term "Kx" xsd:string property_value: alternative:term "Kx antigen" xsd:string property_value: alternative:term "X1k" xsd:string property_value: alternative:term "XK, Kell blood group complex subunit (McLeod syndrome)" xsd:string property_value: alternative:term "XKR1" xsd:string property_value: symbol "XK" xsd:string [Term] id: Orphanet:120567 name: xeroderma pigmentosum, complementation group A xref: ENSEMBL:ENSG00000136936 xref: GENATLAS:XPA xref: HGNC:12814 xref: OMIM:611153 xref: REACTOME:P23025 xref: UNIPROTKB/SWISSPROT:P23025 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:276249 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Xeroderma pigmentosum complementation group A property_value: alternative:term "XP1" xsd:string property_value: alternative:term "XPAC" xsd:string property_value: symbol "XPA" xsd:string [Term] id: Orphanet:120571 name: xeroderma pigmentosum, complementation group C xref: ENSEMBL:ENSG00000154767 xref: GENATLAS:XPC xref: HGNC:12816 xref: OMIM:613208 xref: REACTOME:Q01831 xref: UNIPROTKB/SWISSPROT:Q01831 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:276255 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Xeroderma pigmentosum complementation group C property_value: alternative:term "RAD4" xsd:string property_value: alternative:term "xeroderma pigmentosum group C protein" xsd:string property_value: alternative:term "XPCC" xsd:string property_value: symbol "XPC" xsd:string [Term] id: Orphanet:120579 name: zeta-chain (TCR) associated protein kinase 70kDa xref: ENSEMBL:ENSG00000115085 xref: GENATLAS:ZAP70 xref: HGNC:12858 xref: IUPHAR:2285 xref: OMIM:176947 xref: REACTOME:P43403 xref: UNIPROTKB/SWISSPROT:P43403 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:911 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined immunodeficiency due to ZAP70 deficiency property_value: alternative:term "SRK" xsd:string property_value: alternative:term "STD" xsd:string property_value: alternative:term "ZAP-70" xsd:string property_value: alternative:term "zeta-chain (TCR) associated protein kinase (70 kD)" xsd:string property_value: symbol "ZAP70" xsd:string [Term] id: Orphanet:120584 name: zinc finger E-box binding homeobox 1 xref: ENSEMBL:ENSG00000148516 xref: GENATLAS:ZEB1 xref: HGNC:11642 xref: OMIM:189909 xref: UNIPROTKB/SWISSPROT:P37275 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98973 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Posterior polymorphous corneal dystrophy relationship: Orphanet:317343 Orphanet:98974 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fuchs endothelial corneal dystrophy property_value: alternative:term "AREB6" xsd:string property_value: alternative:term "BZP" xsd:string property_value: alternative:term "NIL-2-A" xsd:string property_value: alternative:term "posterior polymorphous corneal dystrophy 3" xsd:string property_value: alternative:term "PPCD3" xsd:string property_value: alternative:term "TCF8" xsd:string property_value: alternative:term "transcription factor 8 (represses interleukin 2 expression)" xsd:string property_value: alternative:term "ZEB" xsd:string property_value: alternative:term "Zfhep" xsd:string property_value: alternative:term "Zfhx1a" xsd:string property_value: symbol "ZEB1" xsd:string [Term] id: Orphanet:120593 name: zinc finger E-box binding homeobox 2 xref: ENSEMBL:ENSG00000169554 xref: GENATLAS:ZEB2 xref: HGNC:14881 xref: OMIM:605802 xref: UNIPROTKB/SWISSPROT:O60315 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:261552 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mowat-Wilson syndrome due to a point mutation relationship: Orphanet:317349 Orphanet:261537 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mowat-Wilson syndrome due to monosomy 2q22 property_value: alternative:term "KIAA0569" xsd:string property_value: alternative:term "SIP-1" xsd:string property_value: alternative:term "SIP1" xsd:string property_value: alternative:term "SMAD interacting protein 1" xsd:string property_value: alternative:term "ZFHX1B" xsd:string property_value: alternative:term "zinc finger homeobox 1b" xsd:string property_value: symbol "ZEB2" xsd:string [Term] id: Orphanet:120598 name: zinc finger protein, FOG family member 2 xref: ENSEMBL:ENSG00000169946 xref: GENATLAS:ZFPM2 xref: HGNC:16700 xref: OMIM:603693 xref: REACTOME:Q8WW38 xref: UNIPROTKB/SWISSPROT:Q8WW38 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2140 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Congenital diaphragmatic hernia relationship: Orphanet:317345 Orphanet:3303 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Tetralogy of Fallot property_value: alternative:term "FOG2" xsd:string property_value: alternative:term "hFOG-2" xsd:string property_value: alternative:term "ZC2HC11B" xsd:string property_value: alternative:term "Zinc finger protein, multitype 2" xsd:string property_value: alternative:term "ZNF89B" xsd:string property_value: symbol "ZFPM2" xsd:string [Term] id: Orphanet:120606 name: Zic family member 1 xref: ENSEMBL:ENSG00000152977 xref: GENATLAS:ZIC1 xref: HGNC:12872 xref: OMIM:600470 xref: UNIPROTKB/SWISSPROT:Q15915 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:217 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated Dandy-Walker malformation property_value: alternative:term "ZIC" xsd:string property_value: alternative:term "Zic family member 1 (odd-paired Drosophila homolog)" xsd:string property_value: alternative:term "Zic family member 1 (odd-paired homolog, Drosophila)" xsd:string property_value: alternative:term "ZNF201" xsd:string property_value: symbol "ZIC1" xsd:string [Term] id: Orphanet:120610 name: Zic family member 2 xref: ENSEMBL:ENSG00000043355 xref: GENATLAS:ZIC2 xref: HGNC:12873 xref: OMIM:603073 xref: UNIPROTKB/SWISSPROT:O95409 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220386 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Semilobar holoprosencephaly relationship: Orphanet:317343 Orphanet:280195 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Septopreoptic holoprosencephaly relationship: Orphanet:317343 Orphanet:280200 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microform holoprosencephaly relationship: Orphanet:317343 Orphanet:93924 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93925 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93926 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Midline interhemispheric variant of holoprosencephaly property_value: alternative:term "HPE5" xsd:string property_value: alternative:term "Zic family member 2 (odd-paired Drosophila homolog)" xsd:string property_value: alternative:term "Zic family member 2 (odd-paired homolog, Drosophila)" xsd:string property_value: alternative:term "Zinc finger protein of the cerebellum 2" xsd:string property_value: symbol "ZIC2" xsd:string [Term] id: Orphanet:120613 name: Zic family member 3 xref: ENSEMBL:ENSG00000156925 xref: GENATLAS:ZIC3 xref: HGNC:12874 xref: OMIM:300265 xref: UNIPROTKB/SWISSPROT:O60481 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:157769 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Situs ambiguus relationship: Orphanet:317345 Orphanet:216718 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated congenitally uncorrected transposition of the great arteries relationship: Orphanet:317345 Orphanet:3426 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Double outlet right ventricle property_value: alternative:term "heterotaxy 1" xsd:string property_value: alternative:term "HTX" xsd:string property_value: alternative:term "HTX1" xsd:string property_value: alternative:term "Zic family member 3 (odd-paired homolog, Drosophila)" xsd:string property_value: alternative:term "Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila)" xsd:string property_value: alternative:term "ZNF203" xsd:string property_value: symbol "ZIC3" xsd:string [Term] id: Orphanet:120618 name: Zic family member 4 xref: ENSEMBL:ENSG00000174963 xref: GENATLAS:ZIC4 xref: HGNC:20393 xref: OMIM:608948 xref: UNIPROTKB/SWISSPROT:Q8N9L1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:217 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated Dandy-Walker malformation property_value: alternative:term "zinc finger protein of the cerebellum 4" xsd:string property_value: symbol "ZIC4" xsd:string [Term] id: Orphanet:120620 name: zinc metallopeptidase STE24 xref: ENSEMBL:ENSG00000084073 xref: GENATLAS:ZMPSTE24 xref: HGNC:12877 xref: OMIM:606480 xref: UNIPROTKB/SWISSPROT:O75844 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1662 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lethal restrictive dermopathy relationship: Orphanet:317343 Orphanet:740 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hutchinson-Gilford progeria syndrome relationship: Orphanet:317343 Orphanet:90154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mandibuloacral dysplasia with type B lipodystrophy property_value: alternative:term "CAAX prenyl protease 1 homolog" xsd:string property_value: alternative:term "FACE-1" xsd:string property_value: alternative:term "HGPS" xsd:string property_value: alternative:term "Hutchinson-Gilford progeria syndrome" xsd:string property_value: alternative:term "PRO1" xsd:string property_value: alternative:term "STE24" xsd:string property_value: alternative:term "Ste24p" xsd:string property_value: alternative:term "Zinc metallopeptidase (STE24 homolog, S. cerevisiae)" xsd:string property_value: alternative:term "zinc metallopeptidase (STE24 homolog, yeast)" xsd:string property_value: alternative:term "zinc metallopeptidase STE24 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "zinc metalloproteinase (STE24 homolog, yeast)" xsd:string property_value: symbol "ZMPSTE24" xsd:string [Term] id: Orphanet:120625 name: claudin 16 xref: ENSEMBL:ENSG00000113946 xref: GENATLAS:CLDN16 xref: HGNC:2037 xref: OMIM:603959 xref: REACTOME:Q9Y5I7 xref: UNIPROTKB/SWISSPROT:Q9Y5I7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:31043 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hypomagnesemia - hypercalciuria - nephrocalcinosis property_value: alternative:term "HOMG3" xsd:string property_value: alternative:term "hypomagnesemia 3, with hypercalciuria and nephrocalcinosis" xsd:string property_value: alternative:term "paracellin-1" xsd:string property_value: alternative:term "PCLN1" xsd:string property_value: symbol "CLDN16" xsd:string [Term] id: Orphanet:120628 name: claudin 19 xref: ENSEMBL:ENSG00000164007 xref: GENATLAS:CLDN19 xref: HGNC:2040 xref: OMIM:610036 xref: REACTOME:Q8N6F1 xref: UNIPROTKB/SWISSPROT:Q8N6F1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2196 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement property_value: symbol "CLDN19" xsd:string [Term] id: Orphanet:120630 name: CAP-GLY domain containing linker protein 2 xref: ENSEMBL:ENSG00000106665 xref: GENATLAS:CLIP2 xref: HGNC:2586 xref: OMIM:603432 xref: UNIPROTKB/SWISSPROT:Q9UDT6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Williams syndrome property_value: alternative:term "CLIP" xsd:string property_value: alternative:term "CLIP-115" xsd:string property_value: alternative:term "CYLN2" xsd:string property_value: alternative:term "cytoplasmic linker 2" xsd:string property_value: alternative:term "KIAA0291" xsd:string property_value: alternative:term "WBSCR3" xsd:string property_value: alternative:term "WBSCR4" xsd:string property_value: alternative:term "Williams-Beuren syndrome chromosome region 3" xsd:string property_value: alternative:term "WSCR3" xsd:string property_value: alternative:term "WSCR4" xsd:string property_value: symbol "CLIP2" xsd:string [Term] id: Orphanet:120638 name: ceroid-lipofuscinosis, neuronal 3 xref: ENSEMBL:ENSG00000188603 xref: GENATLAS:CLN3 xref: HGNC:2074 xref: OMIM:607042 xref: UNIPROTKB/SWISSPROT:Q13286 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:228346 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CLN3 disease property_value: alternative:term "Batten, Spielmeyer-Vogt disease" xsd:string property_value: alternative:term "BTS" xsd:string property_value: alternative:term "Ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)" xsd:string property_value: alternative:term "JNCL" xsd:string property_value: alternative:term "juvenile neuronal ceroid lipofuscinosis" xsd:string property_value: symbol "CLN3" xsd:string [Term] id: Orphanet:120641 name: ceroid-lipofuscinosis, neuronal 5 xref: ENSEMBL:ENSG00000102805 xref: GENATLAS:CLN5 xref: HGNC:2076 xref: OMIM:608102 xref: UNIPROTKB/SWISSPROT:O75503 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:228360 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CLN5 disease property_value: symbol "CLN5" xsd:string [Term] id: Orphanet:120643 name: ceroid-lipofuscinosis, neuronal 6, late infantile, variant xref: ENSEMBL:ENSG00000128973 xref: GENATLAS:CLN6 xref: HGNC:2077 xref: OMIM:606725 xref: UNIPROTKB/SWISSPROT:Q9NWW5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:228340 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CLN4A disease relationship: Orphanet:317343 Orphanet:228363 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CLN6 disease property_value: alternative:term "FLJ20561" xsd:string property_value: alternative:term "HsT18960" xsd:string property_value: alternative:term "nclf" xsd:string property_value: symbol "CLN6" xsd:string [Term] id: Orphanet:120648 name: ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) xref: ENSEMBL:ENSG00000182372 xref: GENATLAS:CLN8 xref: HGNC:2079 xref: OMIM:607837 xref: UNIPROTKB/SWISSPROT:Q9UBY8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1947 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive epilepsy - intellectual deficit, Finnish type relationship: Orphanet:317343 Orphanet:228354 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CLN8 disease property_value: alternative:term "C8orf61" xsd:string property_value: alternative:term "chromosome 8 open reading frame 61" xsd:string property_value: alternative:term "EPMR" xsd:string property_value: alternative:term "FLJ39417" xsd:string property_value: symbol "CLN8" xsd:string [Term] id: Orphanet:120653 name: clarin 1 xref: ENSEMBL:ENSG00000163646 xref: GENATLAS:CLRN1 xref: HGNC:12605 xref: OMIM:606397 xref: UNIPROTKB/SWISSPROT:P58418 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231183 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Usher syndrome type 3 relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "USH3" xsd:string property_value: alternative:term "USH3A" xsd:string property_value: alternative:term "Usher syndrome 3A" xsd:string property_value: symbol "CLRN1" xsd:string [Term] id: Orphanet:120657 name: CCHC-type zinc finger, nucleic acid binding protein xref: ENSEMBL:ENSG00000169714 xref: GENATLAS:CNBP xref: HGNC:13164 xref: OMIM:116955 xref: UNIPROTKB/SWISSPROT:P62633 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:606 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Proximal myotonic myopathy property_value: alternative:term "CNBP1" xsd:string property_value: alternative:term "DM2" xsd:string property_value: alternative:term "RNF163" xsd:string property_value: alternative:term "ZCCHC22" xsd:string property_value: alternative:term "zinc finger protein 9" xsd:string property_value: alternative:term "zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)" xsd:string property_value: alternative:term "ZNF9" xsd:string property_value: symbol "CNBP" xsd:string [Term] id: Orphanet:120664 name: cyclic nucleotide gated channel alpha 1 xref: ENSEMBL:ENSG00000198515 xref: GENATLAS:CNGA1 xref: HGNC:2148 xref: IUPHAR:394 xref: OMIM:123825 xref: REACTOME:P29973 xref: UNIPROTKB/SWISSPROT:P29973 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "CNCG" xsd:string property_value: alternative:term "CNCG1" xsd:string property_value: alternative:term "CNG1" xsd:string property_value: alternative:term "RCNC1" xsd:string property_value: alternative:term "RCNCa" xsd:string property_value: alternative:term "RP49" xsd:string property_value: symbol "CNGA1" xsd:string [Term] id: Orphanet:120671 name: cyclic nucleotide gated channel alpha 3 xref: ENSEMBL:ENSG00000144191 xref: GENATLAS:CNGA3 xref: HGNC:2150 xref: IUPHAR:396 xref: OMIM:600053 xref: UNIPROTKB/SWISSPROT:Q16281 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:49382 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Achromatopsia property_value: alternative:term "ACHM2" xsd:string property_value: alternative:term "CCNC1" xsd:string property_value: alternative:term "CCNCa" xsd:string property_value: alternative:term "CNCG3" xsd:string property_value: alternative:term "CNG3" xsd:string property_value: symbol "CNGA3" xsd:string [Term] id: Orphanet:120678 name: cyclic nucleotide gated channel beta 3 xref: ENSEMBL:ENSG00000170289 xref: GENATLAS:CNGB3 xref: HGNC:2153 xref: IUPHAR:399 xref: OMIM:605080 xref: UNIPROTKB/SWISSPROT:Q9NQW8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1871 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive cone dystrophy relationship: Orphanet:317343 Orphanet:49382 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Achromatopsia relationship: Orphanet:327767 Orphanet:827 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Stargardt disease property_value: alternative:term "ACHM1" xsd:string property_value: alternative:term "ACHM3" xsd:string property_value: alternative:term "achromatopsia (rod monochromacy) 1" xsd:string property_value: alternative:term "achromatopsia (rod monochromacy) 3" xsd:string property_value: alternative:term "RMCH" xsd:string property_value: symbol "CNGB3" xsd:string [Term] id: Orphanet:120681 name: cochlin xref: ENSEMBL:ENSG00000100473 xref: GENATLAS:COCH xref: HGNC:2180 xref: OMIM:603196 xref: UNIPROTKB/SWISSPROT:O43405 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA relationship: Orphanet:317345 Orphanet:45360 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Meniere disease property_value: alternative:term "coagulation factor C (Limulus polyphemus homolog); cochlin" xsd:string property_value: alternative:term "Coagulation factor C homolog, cochlin (Limulus polyphemus)" xsd:string property_value: alternative:term "COCH-5B2" xsd:string property_value: alternative:term "DFNA31" xsd:string property_value: alternative:term "DFNA9" xsd:string property_value: symbol "COCH" xsd:string [Term] id: Orphanet:120686 name: component of oligomeric golgi complex 7 xref: ENSEMBL:ENSG00000168434 xref: GENATLAS:COG7 xref: HGNC:18622 xref: OMIM:606978 xref: UNIPROTKB/SWISSPROT:P83436 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79333 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! COG7-CDG property_value: symbol "COG7" xsd:string [Term] id: Orphanet:120688 name: collagen, type X, alpha 1 xref: ENSEMBL:ENSG00000123500 xref: GENATLAS:COL10A1 xref: HGNC:2185 xref: OMIM:120110 xref: REACTOME:Q03692 xref: UNIPROTKB/SWISSPROT:Q03692 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:174 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Metaphyseal chondrodysplasia, Schmid type property_value: alternative:term "Collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia)" xsd:string property_value: alternative:term "Schmid metaphyseal chondrodysplasia" xsd:string property_value: symbol "COL10A1" xsd:string [Term] id: Orphanet:120690 name: collagen, type XI, alpha 1 xref: ENSEMBL:ENSG00000060718 xref: GENATLAS:COL11A1 xref: HGNC:2186 xref: OMIM:120280 xref: REACTOME:P12107 xref: UNIPROTKB/SWISSPROT:P12107 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2021 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fibrochondrogenesis relationship: Orphanet:317343 Orphanet:250984 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive Stickler syndrome relationship: Orphanet:317343 Orphanet:560 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Marshall syndrome relationship: Orphanet:317343 Orphanet:90654 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Stickler syndrome type 2 property_value: alternative:term "CO11A1" xsd:string property_value: alternative:term "COLL6" xsd:string property_value: alternative:term "collagen XI, alpha-1 polypeptide" xsd:string property_value: alternative:term "STL2" xsd:string property_value: symbol "COL11A1" xsd:string [Term] id: Orphanet:120693 name: collagen, type XI, alpha 2 xref: ENSEMBL:ENSG00000204248 xref: GENATLAS:COL11A2 xref: HGNC:2187 xref: OMIM:120290 xref: REACTOME:P13942 xref: UNIPROTKB/SWISSPROT:P13942 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1427 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Otospondylomegaepiphyseal dysplasia relationship: Orphanet:317343 Orphanet:166100 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Stickler syndrome type 3 relationship: Orphanet:317343 Orphanet:2021 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fibrochondrogenesis relationship: Orphanet:317343 Orphanet:3450 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Weissenbacher- Zweymuller syndrome relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "DFNA13" xsd:string property_value: alternative:term "DFNB53" xsd:string property_value: alternative:term "HKE5" xsd:string property_value: symbol "COL11A2" xsd:string [Term] id: Orphanet:120698 name: collagen, type XVII, alpha 1 xref: ENSEMBL:ENSG00000065618 xref: GENATLAS:COL17A1 xref: HGNC:2194 xref: OMIM:113811 xref: REACTOME:Q9UMD9 xref: UNIPROTKB/SWISSPROT:Q9UMD9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:251393 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Localized junctional epidermolysis bullosa, non-Herlitz type relationship: Orphanet:317343 Orphanet:79402 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized junctional epidermolysis bullosa, non-Herlitz type relationship: Orphanet:317343 Orphanet:79406 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Late-onset junctional epidermolysis bullosa property_value: alternative:term "BP180" xsd:string property_value: alternative:term "BPAG2" xsd:string property_value: symbol "COL17A1" xsd:string [Term] id: Orphanet:1207 name: Pulmonary atresia with ventricular septal defect xref: ICD10:Q25.5 xref: OMIM:178370 xref: SNOMED CT:253591008 xref: UMLS:C0344976 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:2445 ! Conotruncal heart malformations [Term] id: Orphanet:120702 name: collagen, type XVIII, alpha 1 xref: ENSEMBL:ENSG00000182871 xref: GENATLAS:COL18A1 xref: HGNC:2195 xref: OMIM:120328 xref: REACTOME:P39060 xref: UNIPROTKB/SWISSPROT:P39060 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1571 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Knobloch syndrome property_value: alternative:term "endostatin" xsd:string property_value: alternative:term "KNO" xsd:string property_value: alternative:term "KNO1" xsd:string property_value: alternative:term "Knobloch syndrome, type 1" xsd:string property_value: alternative:term "KS" xsd:string property_value: symbol "COL18A1" xsd:string [Term] id: Orphanet:120704 name: collagen, type I, alpha 1 xref: ENSEMBL:ENSG00000108821 xref: GENATLAS:COL1A1 xref: HGNC:2197 xref: OMIM:120150 xref: REACTOME:P02452 xref: UNIPROTKB/SWISSPROT:P02452 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1310 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Caffey disease relationship: Orphanet:317343 Orphanet:216796 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 1 relationship: Orphanet:317343 Orphanet:216804 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 2 relationship: Orphanet:317343 Orphanet:216812 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 3 relationship: Orphanet:317343 Orphanet:216820 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 4 relationship: Orphanet:317343 Orphanet:230845 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos syndrome, vascular-like type relationship: Orphanet:317343 Orphanet:230857 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos/osteogenesis imperfecta syndrome relationship: Orphanet:317343 Orphanet:314029 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! High bone mass osteogenesis imperfecta relationship: Orphanet:317343 Orphanet:90309 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos syndrome type 1 relationship: Orphanet:317343 Orphanet:99875 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos syndrome type 7A relationship: Orphanet:317348 Orphanet:31112 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dermatofibrosarcoma protuberans property_value: alternative:term "OI4" xsd:string property_value: symbol "COL1A1" xsd:string [Term] id: Orphanet:120707 name: collagen, type I, alpha 2 xref: ENSEMBL:ENSG00000164692 xref: GENATLAS:COL1A2 xref: HGNC:2198 xref: OMIM:120160 xref: REACTOME:P08123 xref: UNIPROTKB/SWISSPROT:P08123 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:216796 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 1 relationship: Orphanet:317343 Orphanet:216804 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 2 relationship: Orphanet:317343 Orphanet:216812 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 3 relationship: Orphanet:317343 Orphanet:216820 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 4 relationship: Orphanet:317343 Orphanet:230851 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos syndrome, cardiac valvular type relationship: Orphanet:317343 Orphanet:230857 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos/osteogenesis imperfecta syndrome relationship: Orphanet:317343 Orphanet:314029 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! High bone mass osteogenesis imperfecta relationship: Orphanet:317343 Orphanet:99876 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos syndrome type 7B property_value: alternative:term "alpha 2(I)-collagen" xsd:string property_value: alternative:term "alpha-2 collagen type I" xsd:string property_value: alternative:term "collagen I, alpha-2 polypeptide" xsd:string property_value: alternative:term "collagen of skin, tendon and bone, alpha-2 chain" xsd:string property_value: alternative:term "OI4" xsd:string property_value: alternative:term "osteogenesis imperfecta type IV" xsd:string property_value: alternative:term "type I procollagen" xsd:string property_value: symbol "COL1A2" xsd:string [Term] id: Orphanet:120710 name: collagen, type II, alpha 1 xref: ENSEMBL:ENSG00000139219 xref: GENATLAS:COL2A1 xref: HGNC:2200 xref: OMIM:120140 xref: REACTOME:P02458 xref: UNIPROTKB/SWISSPROT:P02458 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:137678 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Czech dysplasia, metatarsal type relationship: Orphanet:317343 Orphanet:1427 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Otospondylomegaepiphyseal dysplasia relationship: Orphanet:317343 Orphanet:166011 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple epiphyseal dysplasia, Beighton type relationship: Orphanet:317343 Orphanet:1856 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spondyloperipheral dysplasia - short ulna relationship: Orphanet:317343 Orphanet:209867 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant rhegmatogenous retinal detachment relationship: Orphanet:317343 Orphanet:2380 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Legg-Calvé-Perthes disease relationship: Orphanet:317343 Orphanet:485 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kniest dysplasia relationship: Orphanet:317343 Orphanet:85166 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Platyspondylic dysplasia, Torrance type relationship: Orphanet:317343 Orphanet:86820 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial avascular necrosis of femoral head relationship: Orphanet:317343 Orphanet:90653 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Stickler syndrome type 1 relationship: Orphanet:317343 Orphanet:93279 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis relationship: Orphanet:317343 Orphanet:93296 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Achondrogenesis type 2 relationship: Orphanet:317343 Orphanet:93297 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypochondrogenesis relationship: Orphanet:317343 Orphanet:93315 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spondylometaphyseal dysplasia, 'corner fracture' type relationship: Orphanet:317343 Orphanet:93316 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spondylometaphyseal dysplasia, Schmidt type relationship: Orphanet:317343 Orphanet:93346 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spondyloepimetaphyseal dysplasia congenita, Strudwick type relationship: Orphanet:317343 Orphanet:94068 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spondyloepiphyseal dysplasia congenita property_value: alternative:term "AOM" xsd:string property_value: alternative:term "arthroophthalmopathy, progressive (Stickler syndrome)" xsd:string property_value: alternative:term "Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)" xsd:string property_value: alternative:term "SEDC" xsd:string property_value: alternative:term "STL1" xsd:string property_value: symbol "COL2A1" xsd:string [Term] id: Orphanet:120713 name: collagen, type III, alpha 1 xref: ENSEMBL:ENSG00000168542 xref: GENATLAS:COL3A1 xref: HGNC:2201 xref: OMIM:120180 xref: REACTOME:P02461 xref: UNIPROTKB/SWISSPROT:P02461 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2500 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acrogeria relationship: Orphanet:317343 Orphanet:286 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos syndrome, vascular type relationship: Orphanet:317343 Orphanet:86 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial abdominal aortic aneurysm relationship: Orphanet:327767 Orphanet:231160 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial cerebral saccular aneurysm property_value: alternative:term "Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)" xsd:string property_value: alternative:term "EDS4A" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome type IV, autosomal dominant" xsd:string property_value: symbol "COL3A1" xsd:string [Term] id: Orphanet:120716 name: collagen, type IV, alpha 1 xref: ENSEMBL:ENSG00000187498 xref: GENATLAS:COL4A1 xref: HGNC:2202 xref: OMIM:120130 xref: REACTOME:P02462 xref: UNIPROTKB/SWISSPROT:P02462 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:36383 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial vascular leukoencephalopathy relationship: Orphanet:317343 Orphanet:73229 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures relationship: Orphanet:317343 Orphanet:799 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Schizencephaly relationship: Orphanet:317343 Orphanet:899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Walker-Warburg syndrome relationship: Orphanet:317343 Orphanet:99810 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial porencephaly property_value: symbol "COL4A1" xsd:string [Term] id: Orphanet:120718 name: collagen, type IV, alpha 3 (Goodpasture antigen) xref: ENSEMBL:ENSG00000169031 xref: GENATLAS:COL4A3 xref: HGNC:2204 xref: OMIM:120070 xref: REACTOME:Q01955 xref: UNIPROTKB/SWISSPROT:Q01955 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88918 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Alport syndrome relationship: Orphanet:317343 Orphanet:88919 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive Alport syndrome property_value: alternative:term "tumstatin" xsd:string property_value: symbol "COL4A3" xsd:string [Term] id: Orphanet:120720 name: collagen, type IV, alpha 4 xref: ENSEMBL:ENSG00000081052 xref: GENATLAS:COL4A4 xref: HGNC:2206 xref: OMIM:120131 xref: REACTOME:P53420 xref: UNIPROTKB/SWISSPROT:P53420 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88918 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Alport syndrome relationship: Orphanet:317343 Orphanet:88919 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive Alport syndrome property_value: alternative:term "CA44" xsd:string property_value: alternative:term "collagen of basement membrane, alpha-4 chain" xsd:string property_value: symbol "COL4A4" xsd:string [Term] id: Orphanet:120722 name: collagen, type IV, alpha 5 xref: ENSEMBL:ENSG00000188153 xref: GENATLAS:COL4A5 xref: HGNC:2207 xref: OMIM:303630 xref: REACTOME:P29400 xref: UNIPROTKB/SWISSPROT:P29400 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88917 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked Alport syndrome relationship: Orphanet:317349 Orphanet:1018 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! X-linked diffuse leiomyomatosis - Alport syndrome property_value: alternative:term "Alport syndrome" xsd:string property_value: alternative:term "ASLN" xsd:string property_value: alternative:term "ATS" xsd:string property_value: alternative:term "Collagen, type IV, alpha 5 (Alport syndrome)" xsd:string property_value: symbol "COL4A5" xsd:string [Term] id: Orphanet:120726 name: collagen, type IV, alpha 6 xref: ENSEMBL:ENSG00000197565 xref: GENATLAS:COL4A6 xref: HGNC:2208 xref: OMIM:303631 xref: REACTOME:Q14031 xref: UNIPROTKB/SWISSPROT:Q14031 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:1018 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! X-linked diffuse leiomyomatosis - Alport syndrome property_value: symbol "COL4A6" xsd:string [Term] id: Orphanet:120728 name: collagen, type V, alpha 1 xref: ENSEMBL:ENSG00000130635 xref: GENATLAS:COL5A1 xref: HGNC:2209 xref: OMIM:120215 xref: REACTOME:P20908 xref: UNIPROTKB/SWISSPROT:P20908 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90309 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos syndrome type 1 relationship: Orphanet:317343 Orphanet:90318 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos syndrome type 2 property_value: alternative:term "alpha 1 type V collagen" xsd:string property_value: symbol "COL5A1" xsd:string [Term] id: Orphanet:120730 name: collagen, type V, alpha 2 xref: ENSEMBL:ENSG00000204262 xref: GENATLAS:COL5A2 xref: HGNC:2210 xref: OMIM:120190 xref: REACTOME:P05997 xref: UNIPROTKB/SWISSPROT:P05997 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90309 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos syndrome type 1 relationship: Orphanet:317343 Orphanet:90318 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos syndrome type 2 property_value: alternative:term "AB collagen" xsd:string property_value: symbol "COL5A2" xsd:string [Term] id: Orphanet:120732 name: collagen, type VI, alpha 1 xref: ENSEMBL:ENSG00000142156 xref: GENATLAS:COL6A1 xref: HGNC:2211 xref: OMIM:120220 xref: REACTOME:P12109 xref: UNIPROTKB/SWISSPROT:P12109 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:610 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bethlem myopathy relationship: Orphanet:317343 Orphanet:75840 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital muscular dystrophy, Ullrich type property_value: symbol "COL6A1" xsd:string [Term] id: Orphanet:120734 name: collagen, type VI, alpha 2 xref: ENSEMBL:ENSG00000142173 xref: GENATLAS:COL6A2 xref: HGNC:2212 xref: OMIM:120240 xref: REACTOME:P12110 xref: UNIPROTKB/SWISSPROT:P12110 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289380 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myosclerosis relationship: Orphanet:317343 Orphanet:610 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bethlem myopathy relationship: Orphanet:317343 Orphanet:75840 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital muscular dystrophy, Ullrich type property_value: symbol "COL6A2" xsd:string [Term] id: Orphanet:120736 name: collagen, type VI, alpha 3 xref: ENSEMBL:ENSG00000163359 xref: GENATLAS:COL6A3 xref: HGNC:2213 xref: OMIM:120250 xref: REACTOME:P12111 xref: UNIPROTKB/SWISSPROT:P12111 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:610 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bethlem myopathy relationship: Orphanet:317343 Orphanet:75840 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital muscular dystrophy, Ullrich type property_value: symbol "COL6A3" xsd:string [Term] id: Orphanet:120738 name: collagen, type VII, alpha 1 xref: ENSEMBL:ENSG00000114270 xref: GENATLAS:COL7A1 xref: HGNC:2214 xref: OMIM:120120 xref: REACTOME:Q02388 xref: UNIPROTKB/SWISSPROT:Q02388 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:158673 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acral dystrophic epidermolysis bullosa relationship: Orphanet:317343 Orphanet:158676 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dystrophic epidermolysis bullosa, nails only relationship: Orphanet:317343 Orphanet:231568 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized dominant dystrophic epidermolysis bullosa relationship: Orphanet:317343 Orphanet:79408 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Severe generalized recessive dystrophic epidermolysis bullosa relationship: Orphanet:317343 Orphanet:79409 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Recessive dystrophic epidermolysis bullosa inversa relationship: Orphanet:317343 Orphanet:79410 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pretibial dystrophic epidermolysis bullosa relationship: Orphanet:317343 Orphanet:79411 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Transient bullous dermolysis of the newborn relationship: Orphanet:317343 Orphanet:89839 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epidermolysis bullosa simplex superficialis relationship: Orphanet:317343 Orphanet:89841 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Centripetalis recessive dystrophic epidermolysis bullosa relationship: Orphanet:317343 Orphanet:89842 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Recessive dystrophic epidermolysis bullosa-generalized other relationship: Orphanet:317343 Orphanet:89843 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dystrophic epidermolysis bullosa pruriginosa property_value: alternative:term "collagen VII, alpha-1 polypeptide" xsd:string property_value: alternative:term "EBD1" xsd:string property_value: alternative:term "EBDCT" xsd:string property_value: alternative:term "EBR1" xsd:string property_value: alternative:term "epidermolysis bullosa, dystrophic, dominant and recessive" xsd:string property_value: alternative:term "LC collagen" xsd:string property_value: symbol "COL7A1" xsd:string [Term] id: Orphanet:120743 name: collagen, type VIII, alpha 2 xref: ENSEMBL:ENSG00000171812 xref: GENATLAS:COL8A2 xref: HGNC:2216 xref: OMIM:120252 xref: REACTOME:P25067 xref: UNIPROTKB/SWISSPROT:P25067 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98973 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Posterior polymorphous corneal dystrophy relationship: Orphanet:317343 Orphanet:98974 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fuchs endothelial corneal dystrophy property_value: alternative:term "FECD" xsd:string property_value: alternative:term "PPCD" xsd:string property_value: alternative:term "PPCD2" xsd:string property_value: symbol "COL8A2" xsd:string [Term] id: Orphanet:120748 name: collagen, type IX, alpha 1 xref: ENSEMBL:ENSG00000112280 xref: GENATLAS:COL9A1 xref: HGNC:2217 xref: OMIM:120210 xref: REACTOME:P20849 xref: UNIPROTKB/SWISSPROT:P20849 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:166002 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple epiphyseal dysplasia due to collagen 9 anomaly relationship: Orphanet:317343 Orphanet:250984 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive Stickler syndrome property_value: symbol "COL9A1" xsd:string [Term] id: Orphanet:120750 name: collagen, type IX, alpha 2 xref: ENSEMBL:ENSG00000049089 xref: GENATLAS:COL9A2 xref: HGNC:2218 xref: OMIM:120260 xref: REACTOME:Q14055 xref: UNIPROTKB/SWISSPROT:Q14055 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:166002 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple epiphyseal dysplasia due to collagen 9 anomaly relationship: Orphanet:317343 Orphanet:250984 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive Stickler syndrome property_value: alternative:term "EDM2" xsd:string property_value: alternative:term "MED" xsd:string property_value: symbol "COL9A2" xsd:string [Term] id: Orphanet:120754 name: collagen, type IX, alpha 3 xref: ENSEMBL:ENSG00000092758 xref: GENATLAS:COL9A3 xref: HGNC:2219 xref: OMIM:120270 xref: REACTOME:Q14050 xref: UNIPROTKB/SWISSPROT:Q14050 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:166002 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple epiphyseal dysplasia due to collagen 9 anomaly property_value: alternative:term "collagen type IX proteoglycan" xsd:string property_value: alternative:term "DJ885L7.4.1" xsd:string property_value: alternative:term "EDM3" xsd:string property_value: alternative:term "FLJ90759" xsd:string property_value: alternative:term "IDD" xsd:string property_value: alternative:term "MED" xsd:string property_value: symbol "COL9A3" xsd:string [Term] id: Orphanet:120761 name: collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase xref: ENSEMBL:ENSG00000206561 xref: GENATLAS:COLQ xref: HGNC:2226 xref: OMIM:603033 xref: UNIPROTKB/SWISSPROT:Q9Y215 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98915 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Synaptic congenital myasthenic syndromes property_value: alternative:term "acetylcholinesterase-associated collagen" xsd:string property_value: alternative:term "AChE Q subunit" xsd:string property_value: alternative:term "collagenic tail of endplate acetylcholinesterase" xsd:string property_value: alternative:term "EAD" xsd:string property_value: alternative:term "single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase" xsd:string property_value: symbol "COLQ" xsd:string [Term] id: Orphanet:120763 name: cartilage oligomeric matrix protein xref: ENSEMBL:ENSG00000105664 xref: GENATLAS:COMP xref: HGNC:2227 xref: OMIM:600310 xref: REACTOME:P49747 xref: UNIPROTKB/SWISSPROT:P49747 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:750 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pseudoachondroplasia relationship: Orphanet:317343 Orphanet:93308 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple epiphyseal dysplasia type 1 property_value: alternative:term "cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)" xsd:string property_value: alternative:term "EDM1" xsd:string property_value: alternative:term "EPD1" xsd:string property_value: alternative:term "MED" xsd:string property_value: alternative:term "PSACH" xsd:string property_value: alternative:term "THBS5" xsd:string property_value: alternative:term "thrombospondin-5" xsd:string property_value: symbol "COMP" xsd:string [Term] id: Orphanet:120770 name: coenzyme Q2 4-hydroxybenzoate polyprenyltransferase xref: ENSEMBL:ENSG00000173085 xref: GENATLAS:COQ2 xref: HGNC:25223 xref: OMIM:609825 xref: REACTOME:Q96H96 xref: UNIPROTKB/SWISSPROT:Q96H96 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:255249 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with nephrotic syndrome relationship: Orphanet:317345 Orphanet:227510 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple system atrophy, cerebellar type relationship: Orphanet:317345 Orphanet:98933 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple system atrophy, parkinsonian type property_value: alternative:term "4-hydroxybenzoate polyprenyltransferase" xsd:string property_value: alternative:term "CL640" xsd:string property_value: alternative:term "Coenzyme Q2 homolog, prenyltransferase (yeast)" xsd:string property_value: alternative:term "FLJ26072" xsd:string property_value: symbol "COQ2" xsd:string [Term] id: Orphanet:120774 name: cytochrome c oxidase assembly homolog 10 (yeast) xref: ENSEMBL:ENSG00000006695 xref: GENATLAS:COX10 xref: HGNC:2260 xref: OMIM:602125 xref: REACTOME:Q12887 xref: UNIPROTKB/SWISSPROT:Q12887 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1561 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fatal infantile cytochrome C oxidase deficiency relationship: Orphanet:317343 Orphanet:255241 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with leukodystrophy relationship: Orphanet:317343 Orphanet:70474 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with cardiomyopathy property_value: alternative:term "COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)" xsd:string property_value: alternative:term "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)" xsd:string property_value: alternative:term "heme A: farnesyltransferase" xsd:string property_value: alternative:term "heme O synthase" xsd:string property_value: alternative:term "protoheme IX farnesyltransferase, mitochondrial" xsd:string property_value: symbol "COX10" xsd:string [Term] id: Orphanet:120776 name: cytochrome c oxidase assembly homolog 15 (yeast) xref: ENSEMBL:ENSG00000014919 xref: GENATLAS:COX15 xref: HGNC:2263 xref: OMIM:603646 xref: REACTOME:Q7KZN9 xref: UNIPROTKB/SWISSPROT:Q7KZN9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1561 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fatal infantile cytochrome C oxidase deficiency relationship: Orphanet:317343 Orphanet:70474 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with cardiomyopathy property_value: alternative:term "COX15 (yeast) homolog, cytochrome c oxidase assembly protein" xsd:string property_value: alternative:term "COX15 homolog, cytochrome c oxidase assembly protein (yeast)" xsd:string property_value: symbol "COX15" xsd:string [Term] id: Orphanet:120778 name: ceruloplasmin (ferroxidase) xref: ENSEMBL:ENSG00000047457 xref: GENATLAS:CP xref: HGNC:2295 xref: OMIM:117700 xref: REACTOME:P00450 xref: UNIPROTKB/SWISSPROT:P00450 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:48818 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Aceruloplasminemia property_value: symbol "CP" xsd:string [Term] id: Orphanet:120780 name: carboxypeptidase A6 xref: ENSEMBL:ENSG00000165078 xref: GENATLAS:CPA6 xref: HGNC:17245 xref: OMIM:609562 xref: UNIPROTKB/SWISSPROT:Q8N4T0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:165805 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial mesial temporal lobe epilepsy with febrile seizures property_value: alternative:term "CPAH" xsd:string property_value: symbol "CPA6" xsd:string [Term] id: Orphanet:120783 name: coproporphyrinogen oxidase xref: ENSEMBL:ENSG00000080819 xref: GENATLAS:CPOX xref: HGNC:2321 xref: OMIM:612732 xref: REACTOME:P36551 xref: UNIPROTKB/SWISSPROT:P36551 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79273 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary coproporphyria property_value: alternative:term "coproporphyria" xsd:string property_value: alternative:term "coproporphyrinogen oxidase (coproporphyria, harderoporphyria)" xsd:string property_value: alternative:term "CPO" xsd:string property_value: alternative:term "CPX" xsd:string property_value: alternative:term "HCP" xsd:string property_value: symbol "CPOX" xsd:string [Term] id: Orphanet:120788 name: carbamoyl-phosphate synthase 1, mitochondrial xref: ENSEMBL:ENSG00000021826 xref: GENATLAS:CPS1 xref: HGNC:2323 xref: OMIM:608307 xref: REACTOME:P31327 xref: UNIPROTKB/SWISSPROT:P31327 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:147 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Carbamoylphosphate synthetase deficiency property_value: alternative:term "Carbamoyl-phosphate synthetase 1, mitochondrial" xsd:string property_value: symbol "CPS1" xsd:string [Term] id: Orphanet:120790 name: carnitine palmitoyltransferase 1A (liver) xref: ENSEMBL:ENSG00000110090 xref: GENATLAS:CPT1A xref: HGNC:2328 xref: OMIM:600528 xref: REACTOME:P50416 xref: UNIPROTKB/SWISSPROT:P50416 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:156 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Carnitine palmitoyl transferase 1A deficiency property_value: alternative:term "CPT1" xsd:string property_value: alternative:term "CPT1-L" xsd:string property_value: alternative:term "L-CPT1" xsd:string property_value: symbol "CPT1A" xsd:string [Term] id: Orphanet:120795 name: carnitine palmitoyltransferase 2 xref: ENSEMBL:ENSG00000157184 xref: GENATLAS:CPT2 xref: HGNC:2330 xref: OMIM:600650 xref: REACTOME:P23786 xref: UNIPROTKB/SWISSPROT:P23786 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:228302 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Carnitine palmitoyl transferase II deficiency, myopathic form relationship: Orphanet:317343 Orphanet:228305 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Carnitine palmitoyl transferase II deficiency, severe infantile form relationship: Orphanet:317343 Orphanet:228308 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Carnitine palmitoyl transferase II deficiency, neonatal form relationship: Orphanet:317345 Orphanet:263524 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Acute necrotizing encephalopathy of childhood property_value: alternative:term "Carnitine palmitoyltransferase II" xsd:string property_value: alternative:term "CPT1" xsd:string property_value: alternative:term "CPTASE" xsd:string property_value: symbol "CPT2" xsd:string [Term] id: Orphanet:1208 name: Pulmonary atresia - intact ventricular septum xref: ICD10:Q22.6 xref: OMIM:265150 xref: SNOMED CT:253590009 xref: UMLS:C0344975 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98719 ! Pulmonary artery or pulmonary branch anomaly relationship: part_of Orphanet:98723 ! Hypoplastic right heart syndrome [Term] id: Orphanet:120803 name: crumbs homolog 1 (Drosophila) xref: ENSEMBL:ENSG00000134376 xref: GENATLAS:CRB1 xref: HGNC:2343 xref: OMIM:604210 xref: UNIPROTKB/SWISSPROT:P82279 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:251295 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pigmented paravenous retinochoroidal atrophy relationship: Orphanet:317343 Orphanet:65 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber congenital amaurosis relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "crumbs (Drosophila) homolog 1" xsd:string property_value: alternative:term "LCA8" xsd:string property_value: alternative:term "RP12" xsd:string property_value: symbol "CRB1" xsd:string [Term] id: Orphanet:120811 name: cereblon xref: ENSEMBL:ENSG00000113851 xref: GENATLAS:CRBN xref: HGNC:30185 xref: OMIM:609262 xref: UNIPROTKB/SWISSPROT:Q96SW2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88616 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive nonsyndromic intellectual deficit relationship: Orphanet:317349 Orphanet:1620 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Distal monosomy 3p property_value: alternative:term "mental retardation, non-syndromic, autosomal recessive, 2A" xsd:string property_value: alternative:term "MRT2A" xsd:string property_value: symbol "CRBN" xsd:string [Term] id: Orphanet:120814 name: CREB binding protein xref: ENSEMBL:ENSG00000005339 xref: GENATLAS:CREBBP xref: HGNC:2348 xref: OMIM:600140 xref: REACTOME:Q92793 xref: UNIPROTKB/SWISSPROT:Q92793 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:353277 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rubinstein-Taybi syndrome due to CREBBP mutations relationship: Orphanet:317348 Orphanet:370026 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute myeloid leukemia with t(8;16)(p11;p13) translocation relationship: Orphanet:317349 Orphanet:353281 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rubinstein-Taybi syndrome due to 16p13.3 microdeletion property_value: alternative:term "CBP" xsd:string property_value: alternative:term "CREB binding protein (Rubinstein-Taybi syndrome)" xsd:string property_value: alternative:term "KAT3A" xsd:string property_value: alternative:term "RSTS" xsd:string property_value: alternative:term "RTS" xsd:string property_value: alternative:term "Rubinstein-Taybi syndrome" xsd:string property_value: symbol "CREBBP" xsd:string [Term] id: Orphanet:120819 name: cysteine-rich with EGF-like domains 1 xref: ENSEMBL:ENSG00000163703 xref: GENATLAS:CRELD1 xref: HGNC:14630 xref: OMIM:607170 xref: UNIPROTKB/SWISSPROT:Q96HD1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:1329 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Complete atrioventricular canal relationship: Orphanet:317345 Orphanet:1330 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Partial atrioventricular canal property_value: alternative:term "atrioventricular septal defect 2" xsd:string property_value: alternative:term "AVSD2" xsd:string property_value: symbol "CRELD1" xsd:string [Term] id: Orphanet:120822 name: cone-rod homeobox xref: ENSEMBL:ENSG00000105392 xref: GENATLAS:CRX xref: HGNC:2383 xref: OMIM:602225 xref: UNIPROTKB/SWISSPROT:O43186 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone rod dystrophy relationship: Orphanet:317343 Orphanet:65 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber congenital amaurosis relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "CORD2" xsd:string property_value: alternative:term "CRD" xsd:string property_value: alternative:term "LCA7" xsd:string property_value: alternative:term "orthodenticle homeobox 3" xsd:string property_value: alternative:term "OTX3" xsd:string property_value: symbol "CRX" xsd:string [Term] id: Orphanet:120828 name: crystallin, alpha A xref: ENSEMBL:ENSG00000160202 xref: GENATLAS:CRYAA xref: HGNC:2388 xref: OMIM:123580 xref: UNIPROTKB/SWISSPROT:P02489 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1377 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cataract-microcornea syndrome relationship: Orphanet:317343 Orphanet:98991 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nuclear cataract relationship: Orphanet:317343 Orphanet:98995 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zonular cataract property_value: alternative:term "CRYA1" xsd:string property_value: alternative:term "HSPB4" xsd:string property_value: symbol "CRYAA" xsd:string [Term] id: Orphanet:120832 name: crystallin, alpha B xref: ENSEMBL:ENSG00000109846 xref: GENATLAS:CRYAB xref: HGNC:2389 xref: OMIM:123590 xref: UNIPROTKB/SWISSPROT:P02511 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317343 Orphanet:280553 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fatal infantile hypertonic myofibrillar myopathy relationship: Orphanet:317343 Orphanet:98910 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alpha-crystallinopathy relationship: Orphanet:317343 Orphanet:98993 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Posterior polar cataract relationship: Orphanet:317343 Orphanet:98995 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zonular cataract property_value: alternative:term "CRYA2" xsd:string property_value: alternative:term "HSPB5" xsd:string property_value: symbol "CRYAB" xsd:string [Term] id: Orphanet:120836 name: crystallin, beta A1 xref: ENSEMBL:ENSG00000108255 xref: GENATLAS:CRYBA1 xref: HGNC:2394 xref: OMIM:123610 xref: UNIPROTKB/SWISSPROT:P05813 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98985 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cataract with Y-shaped suture opacities relationship: Orphanet:317343 Orphanet:98995 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zonular cataract property_value: alternative:term "CRYB1" xsd:string property_value: alternative:term "eye lens structural protein" xsd:string property_value: symbol "CRYBA1" xsd:string [Term] id: Orphanet:120839 name: crystallin, beta A4 xref: ENSEMBL:ENSG00000196431 xref: GENATLAS:CRYBA4 xref: HGNC:2396 xref: OMIM:123631 xref: UNIPROTKB/SWISSPROT:P53673 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1377 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cataract-microcornea syndrome relationship: Orphanet:317343 Orphanet:2543 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microphthalmia - cataract relationship: Orphanet:317343 Orphanet:98995 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zonular cataract property_value: symbol "CRYBA4" xsd:string [Term] id: Orphanet:120841 name: crystallin, beta B2 xref: ENSEMBL:ENSG00000244752 xref: GENATLAS:CRYBB2 xref: HGNC:2398 xref: OMIM:123620 xref: UNIPROTKB/SWISSPROT:P43320 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1377 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cataract-microcornea syndrome relationship: Orphanet:317343 Orphanet:98985 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cataract with Y-shaped suture opacities relationship: Orphanet:317343 Orphanet:98986 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cataract, Coppock-like relationship: Orphanet:317343 Orphanet:98989 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cerulean cataract relationship: Orphanet:317343 Orphanet:98991 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nuclear cataract relationship: Orphanet:317343 Orphanet:98994 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Total congenital cataract property_value: alternative:term "CCA2" xsd:string property_value: alternative:term "CRYB2" xsd:string property_value: alternative:term "CRYB2A" xsd:string property_value: symbol "CRYBB2" xsd:string [Term] id: Orphanet:120846 name: crystallin, beta B3 xref: ENSEMBL:ENSG00000100053 xref: GENATLAS:CRYBB3 xref: HGNC:2400 xref: OMIM:123630 xref: UNIPROTKB/SWISSPROT:P26998 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98991 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nuclear cataract property_value: alternative:term "CRYB3" xsd:string property_value: symbol "CRYBB3" xsd:string [Term] id: Orphanet:120849 name: crystallin, gamma C xref: ENSEMBL:ENSG00000163254 xref: GENATLAS:CRYGC xref: HGNC:2410 xref: OMIM:123680 xref: UNIPROTKB/SWISSPROT:P07315 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1377 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cataract-microcornea syndrome relationship: Orphanet:317343 Orphanet:98984 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pulverulent cataract relationship: Orphanet:317343 Orphanet:98986 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cataract, Coppock-like relationship: Orphanet:317343 Orphanet:98995 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zonular cataract property_value: alternative:term "CRYG3" xsd:string property_value: symbol "CRYGC" xsd:string [Term] id: Orphanet:120852 name: crystallin, gamma D xref: ENSEMBL:ENSG00000118231 xref: GENATLAS:CRYGD xref: HGNC:2411 xref: OMIM:123690 xref: UNIPROTKB/SWISSPROT:P07320 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1377 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cataract-microcornea syndrome relationship: Orphanet:317343 Orphanet:98986 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cataract, Coppock-like relationship: Orphanet:317343 Orphanet:98989 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cerulean cataract relationship: Orphanet:317343 Orphanet:98990 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Coralliform cataract relationship: Orphanet:317343 Orphanet:98991 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nuclear cataract relationship: Orphanet:317343 Orphanet:98995 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zonular cataract property_value: alternative:term "CRYG4" xsd:string property_value: symbol "CRYGD" xsd:string [Term] id: Orphanet:120855 name: colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) xref: ENSEMBL:ENSG00000100368 xref: GENATLAS:CSF2RB xref: HGNC:2436 xref: OMIM:138981 xref: REACTOME:P32927 xref: UNIPROTKB/SWISSPROT:P32927 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:264675 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital pulmonary alveolar proteinosis property_value: alternative:term "CD131" xsd:string property_value: alternative:term "IL3RB" xsd:string property_value: alternative:term "IL5RB" xsd:string property_value: symbol "CSF2RB" xsd:string [Term] id: Orphanet:120860 name: cysteine and glycine-rich protein 3 (cardiac LIM protein) xref: ENSEMBL:ENSG00000129170 xref: GENATLAS:CSRP3 xref: HGNC:2472 xref: OMIM:600824 xref: UNIPROTKB/SWISSPROT:P50461 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy property_value: alternative:term "CLP" xsd:string property_value: alternative:term "CMD1M" xsd:string property_value: alternative:term "MLP" xsd:string property_value: symbol "CSRP3" xsd:string [Term] id: Orphanet:120865 name: cystatin C xref: ENSEMBL:ENSG00000101439 xref: GENATLAS:CST3 xref: HGNC:2475 xref: OMIM:604312 xref: REACTOME:P01034 xref: UNIPROTKB/SWISSPROT:P01034 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100008 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary cerebral hemorrhage with amyloidosis, Icelandic type property_value: alternative:term "Cystatin C (amyloid angiopathy and cerebral hemorrhage)" xsd:string property_value: symbol "CST3" xsd:string [Term] id: Orphanet:120867 name: cystatin B (stefin B) xref: ENSEMBL:ENSG00000160213 xref: GENATLAS:CSTB xref: HGNC:2482 xref: OMIM:601145 xref: UNIPROTKB/SWISSPROT:P04080 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:308 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Unverricht-Lundborg disease property_value: alternative:term "CST6" xsd:string property_value: alternative:term "EPM1" xsd:string property_value: alternative:term "PME" xsd:string property_value: alternative:term "STFB" xsd:string property_value: symbol "CSTB" xsd:string [Term] id: Orphanet:120873 name: CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 xref: ENSEMBL:ENSG00000060069 xref: GENATLAS:CTDP1 xref: HGNC:2498 xref: OMIM:604927 xref: REACTOME:Q9Y5B0 xref: UNIPROTKB/SWISSPROT:Q9Y5B0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:48431 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital cataracts - facial dysmorphism - neuropathy property_value: alternative:term "FCP1" xsd:string property_value: symbol "CTDP1" xsd:string [Term] id: Orphanet:120876 name: cystathionase (cystathionine gamma-lyase) xref: ENSEMBL:ENSG00000116761 xref: GENATLAS:CTH xref: HGNC:2501 xref: OMIM:607657 xref: REACTOME:P32929 xref: UNIPROTKB/SWISSPROT:P32929 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:212 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cystathioninuria property_value: symbol "CTH" xsd:string [Term] id: Orphanet:120878 name: cytotoxic T-lymphocyte-associated protein 4 xref: ENSEMBL:ENSG00000163599 xref: GENATLAS:CTLA4 xref: HGNC:2505 xref: OMIM:123890 xref: REACTOME:P16410 xref: UNIPROTKB/SWISSPROT:P16410 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:900 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Granulomatosis with polyangiitis property_value: alternative:term "CD" xsd:string property_value: alternative:term "CD152" xsd:string property_value: alternative:term "CD28" xsd:string property_value: alternative:term "celiac disease 3" xsd:string property_value: alternative:term "CELIAC3" xsd:string property_value: alternative:term "GSE" xsd:string property_value: alternative:term "ICOS" xsd:string property_value: symbol "CTLA4" xsd:string [Term] id: Orphanet:120881 name: catenin (cadherin-associated protein), beta 1, 88kDa xref: ENSEMBL:ENSG00000168036 xref: GENATLAS:CTNNB1 xref: HGNC:2514 xref: OMIM:116806 xref: REACTOME:P35222 xref: UNIPROTKB/SWISSPROT:P35222 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178469 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic intellectual deficit relationship: Orphanet:317344 Orphanet:33402 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hepatocellular carcinoma, childhood-onset relationship: Orphanet:317344 Orphanet:873 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Desmoid tumor relationship: Orphanet:317344 Orphanet:91414 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pilomatrixoma property_value: alternative:term "armadillo" xsd:string property_value: alternative:term "beta-catenin" xsd:string property_value: alternative:term "catenin (cadherin-associated protein), beta 1 (88kD)" xsd:string property_value: alternative:term "CTNNB" xsd:string property_value: symbol "CTNNB1" xsd:string [Term] id: Orphanet:120884 name: cystinosin, lysosomal cystine transporter xref: ENSEMBL:ENSG00000040531 xref: GENATLAS:CTNS xref: HGNC:2518 xref: OMIM:606272 xref: UNIPROTKB/SWISSPROT:O60931 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:213 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cystinosis property_value: alternative:term "CTNS-LSB" xsd:string property_value: alternative:term "Cystinosis, nephropathic" xsd:string property_value: alternative:term "PQLC4" xsd:string property_value: symbol "CTNS" xsd:string [Term] id: Orphanet:120888 name: cathepsin A xref: ENSEMBL:ENSG00000064601 xref: GENATLAS:CTSA xref: HGNC:9251 xref: IUPHAR:1581 xref: OMIM:613111 xref: REACTOME:P10619 xref: UNIPROTKB/SWISSPROT:P10619 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:351 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Galactosialidosis property_value: alternative:term "carboxypeptidase C" xsd:string property_value: alternative:term "carboxypeptidase Y-like kininase" xsd:string property_value: alternative:term "carboxypeptidase-L" xsd:string property_value: alternative:term "deamidase" xsd:string property_value: alternative:term "GSL" xsd:string property_value: alternative:term "lysosomal carboxypeptidase A" xsd:string property_value: alternative:term "lysosomal protective protein" xsd:string property_value: alternative:term "PPGB" xsd:string property_value: alternative:term "protective protein for beta-galactosidase (galactosialidosis)" xsd:string property_value: alternative:term "urinary kininase" xsd:string property_value: symbol "CTSA" xsd:string [Term] id: Orphanet:120892 name: cathepsin C xref: ENSEMBL:ENSG00000109861 xref: GENATLAS:CTSC xref: HGNC:2528 xref: IUPHAR:2344 xref: OMIM:602365 xref: REACTOME:P53634 xref: UNIPROTKB/SWISSPROT:P53634 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2342 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Haim-Munk syndrome relationship: Orphanet:317343 Orphanet:678 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Papillon-Lefèvre syndrome property_value: alternative:term "dipeptidyl peptidase 1" xsd:string property_value: alternative:term "DPP1" xsd:string property_value: alternative:term "PALS" xsd:string property_value: alternative:term "PLS" xsd:string property_value: symbol "CTSC" xsd:string [Term] id: Orphanet:120897 name: cathepsin K xref: ENSEMBL:ENSG00000143387 xref: GENATLAS:CTSK xref: HGNC:2536 xref: IUPHAR:2350 xref: OMIM:601105 xref: REACTOME:P43235 xref: UNIPROTKB/SWISSPROT:P43235 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:763 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pycnodysostosis property_value: alternative:term "cathepsin K (pycnodysostosis)" xsd:string property_value: alternative:term "CTSO" xsd:string property_value: alternative:term "CTSO2" xsd:string property_value: alternative:term "PKND" xsd:string property_value: alternative:term "PYCD" xsd:string property_value: symbol "CTSK" xsd:string [Term] id: Orphanet:1209 name: Tricuspid atresia xref: ICD10:Q22.4 xref: MEDDRA:10049767 xref: MESH:D018785 xref: OMIM:605067 xref: SNOMED CT:63042009 xref: UMLS:C0243002 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98721 ! Congenital tricuspid malformation [Term] id: Orphanet:120903 name: cubilin (intrinsic factor-cobalamin receptor) xref: ENSEMBL:ENSG00000107611 xref: GENATLAS:CUBN xref: HGNC:2548 xref: OMIM:602997 xref: REACTOME:O60494 xref: UNIPROTKB/SWISSPROT:O60494 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:35858 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gräsbeck-Imerslund disease property_value: alternative:term "gp280" xsd:string property_value: alternative:term "IFCR" xsd:string property_value: alternative:term "MGA1" xsd:string property_value: symbol "CUBN" xsd:string [Term] id: Orphanet:120908 name: cullin 4B xref: ENSEMBL:ENSG00000158290 xref: GENATLAS:CUL4B xref: HGNC:2555 xref: OMIM:300304 xref: UNIPROTKB/SWISSPROT:Q13620 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:85293 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cabezas syndrome property_value: symbol "CUL4B" xsd:string [Term] id: Orphanet:120910 name: cullin 7 xref: ENSEMBL:ENSG00000044090 xref: GENATLAS:CUL7 xref: HGNC:21024 xref: OMIM:609577 xref: REACTOME:Q14999 xref: UNIPROTKB/SWISSPROT:Q14999 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2616 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 3M syndrome property_value: alternative:term "dJ20C7.5" xsd:string property_value: alternative:term "KIAA0076" xsd:string property_value: symbol "CUL7" xsd:string [Term] id: Orphanet:120914 name: chemokine (C-X-C motif) receptor 4 xref: ENSEMBL:ENSG00000121966 xref: GENATLAS:CXCR4 xref: HGNC:2561 xref: IUPHAR:71 xref: OMIM:162643 xref: REACTOME:P61073 xref: UNIPROTKB/SWISSPROT:P61073 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:51636 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! WHIM syndrome property_value: alternative:term "CD184" xsd:string property_value: alternative:term "chemokine (C-X-C motif), receptor 4 (fusin)" xsd:string property_value: alternative:term "D2S201E" xsd:string property_value: alternative:term "fusin" xsd:string property_value: alternative:term "HM89" xsd:string property_value: alternative:term "HSY3RR" xsd:string property_value: alternative:term "LESTR" xsd:string property_value: alternative:term "NPY3R" xsd:string property_value: alternative:term "NPYR" xsd:string property_value: alternative:term "NPYY3R" xsd:string property_value: symbol "CXCR4" xsd:string [Term] id: Orphanet:120929 name: cytochrome b5 type A (microsomal) xref: ENSEMBL:ENSG00000166347 xref: GENATLAS:CYB5A xref: HGNC:2570 xref: OMIM:613218 xref: REACTOME:P00167 xref: UNIPROTKB/SWISSPROT:P00167 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90796 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 46,XY disorder of sex development due to isolated 17, 20 lyase deficiency property_value: alternative:term "CYB5" xsd:string property_value: alternative:term "cytochrome b-5" xsd:string property_value: alternative:term "cytochrome b5 (microsomal)" xsd:string property_value: symbol "CYB5A" xsd:string [Term] id: Orphanet:120932 name: cytochrome b5 reductase 3 xref: ENSEMBL:ENSG00000100243 xref: GENATLAS:CYB5R3 xref: HGNC:2873 xref: OMIM:613213 xref: REACTOME:P00387 xref: UNIPROTKB/SWISSPROT:P00387 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:139373 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Recessive hereditary methemoglobinemia type 1 relationship: Orphanet:317343 Orphanet:139380 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Recessive hereditary methemoglobinemia type 2 property_value: alternative:term "DIA1" xsd:string property_value: alternative:term "diaphorase (NADH) (cytochrome b-5 reductase)" xsd:string property_value: symbol "CYB5R3" xsd:string [Term] id: Orphanet:120935 name: cytochrome b-245, beta polypeptide xref: ENSEMBL:ENSG00000165168 xref: GENATLAS:CYBB xref: HGNC:2578 xref: OMIM:300481 xref: REACTOME:P04839 xref: UNIPROTKB/SWISSPROT:P04839 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319623 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency relationship: Orphanet:317343 Orphanet:379 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chronic granulomatous disease property_value: alternative:term "CGD" xsd:string property_value: alternative:term "chronic granulomatous disease" xsd:string property_value: alternative:term "Cytochrome b-245, beta polypeptide (chronic granulomatous disease)" xsd:string property_value: alternative:term "GP91-PHOX" xsd:string property_value: alternative:term "NOX2" xsd:string property_value: symbol "CYBB" xsd:string [Term] id: Orphanet:120940 name: cylindromatosis (turban tumor syndrome) xref: ENSEMBL:ENSG00000083799 xref: GENATLAS:CYLD xref: HGNC:2584 xref: OMIM:605018 xref: REACTOME:Q9NQC7 xref: UNIPROTKB/SWISSPROT:Q9NQC7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:211 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial cylindromatosis relationship: Orphanet:317343 Orphanet:867 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial multiple trichoepithelioma property_value: alternative:term "CYLD1" xsd:string property_value: alternative:term "KIAA0849" xsd:string property_value: alternative:term "ubiquitin specific peptidase like 2" xsd:string property_value: alternative:term "USPL2" xsd:string property_value: symbol "CYLD" xsd:string [Term] id: Orphanet:120945 name: cytochrome P450, family 11, subfamily A, polypeptide 1 xref: ENSEMBL:ENSG00000140459 xref: GENATLAS:CYP11A1 xref: HGNC:2590 xref: OMIM:118485 xref: REACTOME:P05108 xref: UNIPROTKB/SWISSPROT:P05108 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:168558 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency relationship: Orphanet:317343 Orphanet:289548 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Inherited isolated adrenal insufficiency due to CYP11A1 deficiency property_value: alternative:term "cholesterol monooxygenase (side-chain-cleaving)" xsd:string property_value: alternative:term "CYP11A" xsd:string property_value: alternative:term "cytochrome P450, subfamily XIA (cholesterol side chain cleavage)" xsd:string property_value: alternative:term "P450SCC" xsd:string property_value: symbol "CYP11A1" xsd:string [Term] id: Orphanet:120949 name: cytochrome P450, family 11, subfamily B, polypeptide 1 xref: ENSEMBL:ENSG00000160882 xref: GENATLAS:CYP11B1 xref: HGNC:2591 xref: IUPHAR:1359 xref: OMIM:610613 xref: REACTOME:P15538 xref: UNIPROTKB/SWISSPROT:P15538 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:403 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hyperaldosteronism type 1 relationship: Orphanet:317343 Orphanet:90795 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency property_value: alternative:term "CPN1" xsd:string property_value: alternative:term "CYP11B" xsd:string property_value: alternative:term "cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1" xsd:string property_value: alternative:term "FHI" xsd:string property_value: alternative:term "P450C11" xsd:string property_value: alternative:term "steroid 11-beta-monooxygenase" xsd:string property_value: symbol "CYP11B1" xsd:string [Term] id: Orphanet:120955 name: cytochrome P450, family 11, subfamily B, polypeptide 2 xref: ENSEMBL:ENSG00000179142 xref: GENATLAS:CYP11B2 xref: HGNC:2592 xref: OMIM:124080 xref: REACTOME:P19099 xref: UNIPROTKB/SWISSPROT:P19099 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:403 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hyperaldosteronism type 1 relationship: Orphanet:317343 Orphanet:99763 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hyperreninemic hypoaldosteronism type 1 property_value: alternative:term "ALDOS" xsd:string property_value: alternative:term "CPN2" xsd:string property_value: alternative:term "CYP11B" xsd:string property_value: alternative:term "CYP11BL" xsd:string property_value: alternative:term "cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2" xsd:string property_value: alternative:term "P-450C18" xsd:string property_value: alternative:term "P450aldo" xsd:string property_value: alternative:term "steroid 11-beta-monooxygenase" xsd:string property_value: symbol "CYP11B2" xsd:string [Term] id: Orphanet:120963 name: cytochrome P450, family 17, subfamily A, polypeptide 1 xref: ENSEMBL:ENSG00000148795 xref: GENATLAS:CYP17A1 xref: HGNC:2593 xref: IUPHAR:1361 xref: OMIM:609300 xref: REACTOME:P05093 xref: UNIPROTKB/SWISSPROT:P05093 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90793 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency relationship: Orphanet:317343 Orphanet:90796 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 46,XY disorder of sex development due to isolated 17, 20 lyase deficiency property_value: alternative:term "CPT7" xsd:string property_value: alternative:term "CYP17" xsd:string property_value: alternative:term "cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia" xsd:string property_value: alternative:term "P450C17" xsd:string property_value: alternative:term "S17AH" xsd:string property_value: alternative:term "Steroid 17-alpha-monooxygenase" xsd:string property_value: symbol "CYP17A1" xsd:string [Term] id: Orphanet:120969 name: cytochrome P450, family 19, subfamily A, polypeptide 1 xref: ENSEMBL:ENSG00000137869 xref: GENATLAS:CYP19A1 xref: HGNC:2594 xref: IUPHAR:1362 xref: OMIM:107910 xref: REACTOME:P11511 xref: UNIPROTKB/SWISSPROT:P11511 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178345 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Aromatase excess syndrome relationship: Orphanet:317343 Orphanet:91 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Aromatase deficiency property_value: alternative:term "ARO" xsd:string property_value: alternative:term "ARO1" xsd:string property_value: alternative:term "aromatase" xsd:string property_value: alternative:term "CPV1" xsd:string property_value: alternative:term "CYAR" xsd:string property_value: alternative:term "CYP19" xsd:string property_value: alternative:term "cytochrome P450, subfamily XIX (aromatization of androgens)" xsd:string property_value: alternative:term "P-450AROM" xsd:string property_value: symbol "CYP19A1" xsd:string [Term] id: Orphanet:120977 name: cytochrome P450, family 1, subfamily B, polypeptide 1 xref: ENSEMBL:ENSG00000138061 xref: GENATLAS:CYP1B1 xref: HGNC:2597 xref: OMIM:601771 xref: REACTOME:Q16678 xref: UNIPROTKB/SWISSPROT:Q16678 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:708 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Peters anomaly relationship: Orphanet:317343 Orphanet:98976 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital glaucoma relationship: Orphanet:317345 Orphanet:98977 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juvenile glaucoma property_value: alternative:term "CP1B" xsd:string property_value: alternative:term "cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)" xsd:string property_value: alternative:term "GLC3A" xsd:string property_value: symbol "CYP1B1" xsd:string [Term] id: Orphanet:120981 name: cytochrome P450, family 21, subfamily A, polypeptide 2 xref: ENSEMBL:ENSG00000231852 xref: GENATLAS:CYP21A2 xref: HGNC:2600 xref: OMIM:613815 xref: REACTOME:P08686 xref: UNIPROTKB/SWISSPROT:P08686 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:315306 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form relationship: Orphanet:317343 Orphanet:315311 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form property_value: alternative:term "CA21H" xsd:string property_value: alternative:term "CAH1" xsd:string property_value: alternative:term "CPS1" xsd:string property_value: alternative:term "CYP21" xsd:string property_value: alternative:term "CYP21B" xsd:string property_value: alternative:term "cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2" xsd:string property_value: alternative:term "P450c21B" xsd:string property_value: alternative:term "Steroid 21-monooxygenase" xsd:string property_value: symbol "CYP21A2" xsd:string [Term] id: Orphanet:120989 name: cytochrome P450, family 27, subfamily A, polypeptide 1 xref: ENSEMBL:ENSG00000135929 xref: GENATLAS:CYP27A1 xref: HGNC:2605 xref: OMIM:606530 xref: REACTOME:Q02318 xref: UNIPROTKB/SWISSPROT:Q02318 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:909 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cerebrotendinous xanthomatosis property_value: alternative:term "cerebrotendinous xanthomatosis" xsd:string property_value: alternative:term "CP27" xsd:string property_value: alternative:term "CTX" xsd:string property_value: alternative:term "CYP27" xsd:string property_value: alternative:term "cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1" xsd:string property_value: symbol "CYP27A1" xsd:string [Term] id: Orphanet:120994 name: cytochrome P450, family 27, subfamily B, polypeptide 1 xref: ENSEMBL:ENSG00000111012 xref: GENATLAS:CYP27B1 xref: HGNC:2606 xref: OMIM:609506 xref: REACTOME:O15528 xref: UNIPROTKB/SWISSPROT:O15528 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289157 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypocalcemic vitamin D-dependent rickets property_value: alternative:term "1alpha(OH)ase" xsd:string property_value: alternative:term "25-Hydroxyvitamin D3 1alpha-hydroxylase" xsd:string property_value: alternative:term "CYP1" xsd:string property_value: alternative:term "cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1" xsd:string property_value: alternative:term "P450c1" xsd:string property_value: alternative:term "PDDR" xsd:string property_value: alternative:term "VDD1" xsd:string property_value: alternative:term "VDDR I" xsd:string property_value: symbol "CYP27B1" xsd:string [Term] id: Orphanet:121000 name: cytochrome P450, family 2, subfamily R, polypeptide 1 xref: ENSEMBL:ENSG00000186104 xref: GENATLAS:CYP2R1 xref: HGNC:20580 xref: OMIM:608713 xref: REACTOME:Q6VVX0 xref: UNIPROTKB/SWISSPROT:Q6VVX0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289157 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypocalcemic vitamin D-dependent rickets property_value: symbol "CYP2R1" xsd:string [Term] id: Orphanet:121002 name: cytochrome P450, family 4, subfamily V, polypeptide 2 xref: ENSEMBL:ENSG00000145476 xref: GENATLAS:CYP4V2 xref: HGNC:23198 xref: OMIM:608614 xref: UNIPROTKB/SWISSPROT:Q6ZWL3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:41751 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bietti crystalline dystrophy relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "CYP4AH1" xsd:string property_value: symbol "CYP4V2" xsd:string [Term] id: Orphanet:121005 name: cytochrome P450, family 7, subfamily B, polypeptide 1 xref: ENSEMBL:ENSG00000172817 xref: GENATLAS:CYP7B1 xref: HGNC:2652 xref: OMIM:603711 xref: REACTOME:O75881 xref: UNIPROTKB/SWISSPROT:O75881 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100986 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 5A relationship: Orphanet:317343 Orphanet:79302 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital bile acid synthesis defect type 3 property_value: alternative:term "cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1" xsd:string property_value: alternative:term "spastic paraplegia 5A (autosomal recessive)" xsd:string property_value: alternative:term "SPG5A" xsd:string property_value: symbol "CYP7B1" xsd:string [Term] id: Orphanet:121007 name: D-2-hydroxyglutarate dehydrogenase xref: ENSEMBL:ENSG00000180902 xref: GENATLAS:D2HGDH xref: HGNC:28358 xref: OMIM:609186 xref: REACTOME:Q8N465 xref: UNIPROTKB/SWISSPROT:Q8N465 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79315 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! D-2-hydroxyglutaric aciduria property_value: alternative:term "D2HGD" xsd:string property_value: alternative:term "FLJ42195" xsd:string property_value: alternative:term "MGC25181" xsd:string property_value: symbol "D2HGDH" xsd:string [Term] id: Orphanet:121012 name: deleted in azoospermia 1 xref: ENSEMBL:ENSG00000188120 xref: GENATLAS:DAZ1 xref: HGNC:2682 xref: OMIM:400003 xref: UNIPROTKB/SWISSPROT:Q9NQZ3 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:1646 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Partial chromosome Y deletion property_value: alternative:term "DAZ" xsd:string property_value: alternative:term "deleted in azoospermia" xsd:string property_value: alternative:term "SPGY" xsd:string property_value: symbol "DAZ1" xsd:string [Term] id: Orphanet:121016 name: deleted in azoospermia 2 xref: ENSEMBL:ENSG00000205944 xref: GENATLAS:DAZ2 xref: HGNC:15964 xref: OMIM:400026 xref: UNIPROTKB/SWISSPROT:Q13117 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:1646 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Partial chromosome Y deletion property_value: alternative:term "MGC126442" xsd:string property_value: alternative:term "pDP1678" xsd:string property_value: symbol "DAZ2" xsd:string [Term] id: Orphanet:121018 name: deleted in azoospermia 3 xref: ENSEMBL:ENSG00000187191 xref: GENATLAS:DAZ3 xref: HGNC:15965 xref: OMIM:400027 xref: UNIPROTKB/SWISSPROT:Q9NR90 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:1646 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Partial chromosome Y deletion property_value: symbol "DAZ3" xsd:string [Term] id: Orphanet:121020 name: deleted in azoospermia 4 xref: ENSEMBL:ENSG00000205916 xref: GENATLAS:DAZ4 xref: HGNC:15966 xref: OMIM:400003 xref: UNIPROTKB/SWISSPROT:Q86SG3 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:1646 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Partial chromosome Y deletion property_value: symbol "DAZ4" xsd:string [Term] id: Orphanet:121022 name: dopamine beta-hydroxylase (dopamine beta-monooxygenase) xref: ENSEMBL:ENSG00000123454 xref: GENATLAS:DBH xref: HGNC:2689 xref: OMIM:609312 xref: REACTOME:P09172 xref: UNIPROTKB/SWISSPROT:P09172 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:230 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dopamine beta-hydroxylase deficiency property_value: alternative:term "DBM" xsd:string property_value: symbol "DBH" xsd:string [Term] id: Orphanet:121025 name: dihydrolipoamide branched chain transacylase E2 xref: ENSEMBL:ENSG00000137992 xref: GENATLAS:DBT xref: HGNC:2698 xref: OMIM:248610 xref: REACTOME:P11182 xref: UNIPROTKB/SWISSPROT:P11182 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:268145 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Classic maple syrup urine disease relationship: Orphanet:317343 Orphanet:268162 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intermediate maple syrup urine disease relationship: Orphanet:317343 Orphanet:268173 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intermittent maple syrup urine disease relationship: Orphanet:317343 Orphanet:268184 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thiamine-responsive maple syrup urine disease property_value: symbol "DBT" xsd:string [Term] id: Orphanet:121027 name: DNA cross-link repair 1C xref: ENSEMBL:ENSG00000152457 xref: GENATLAS:DCLRE1C xref: HGNC:17642 xref: OMIM:605988 xref: UNIPROTKB/SWISSPROT:Q96SD1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:275 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe combined immunodeficiency due to DCLRE1C deficiency relationship: Orphanet:317343 Orphanet:39041 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Omenn syndrome property_value: alternative:term "A-SCID" xsd:string property_value: alternative:term "ARTEMIS" xsd:string property_value: alternative:term "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)" xsd:string property_value: alternative:term "FLJ11360" xsd:string property_value: alternative:term "PSO2 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "SCIDA" xsd:string property_value: alternative:term "severe combined immunodeficiency, type a (Athabascan)" xsd:string property_value: alternative:term "SNM1C" xsd:string property_value: symbol "DCLRE1C" xsd:string [Term] id: Orphanet:121034 name: decorin xref: ENSEMBL:ENSG00000011465 xref: GENATLAS:DCN xref: HGNC:2705 xref: OMIM:125255 xref: REACTOME:P07585 xref: UNIPROTKB/SWISSPROT:P07585 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101068 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital stromal corneal dystrophy property_value: alternative:term "decorin proteoglycan" xsd:string property_value: alternative:term "DSPG2" xsd:string property_value: alternative:term "SLRR1B" xsd:string property_value: symbol "DCN" xsd:string [Term] id: Orphanet:121038 name: doublecortin xref: ENSEMBL:ENSG00000077279 xref: GENATLAS:DCX xref: HGNC:2714 xref: OMIM:300121 xref: REACTOME:O43602 xref: UNIPROTKB/SWISSPROT:O43602 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2148 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lissencephaly type 1 due to doublecortin gene mutation relationship: Orphanet:317343 Orphanet:99796 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Subcortical band heterotopia property_value: alternative:term "DBCN" xsd:string property_value: alternative:term "DC" xsd:string property_value: alternative:term "doublecortex" xsd:string property_value: alternative:term "doublecortex; lissencephaly, X-linked (doublecortin)" xsd:string property_value: alternative:term "LISX" xsd:string property_value: alternative:term "SCLH" xsd:string property_value: alternative:term "XLIS" xsd:string property_value: symbol "DCX" xsd:string [Term] id: Orphanet:121045 name: damage-specific DNA binding protein 2, 48kDa xref: ENSEMBL:ENSG00000134574 xref: GENATLAS:DDB2 xref: HGNC:2718 xref: OMIM:600811 xref: REACTOME:Q92466 xref: UNIPROTKB/SWISSPROT:Q92466 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:276261 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Xeroderma pigmentosum complementation group E property_value: alternative:term "damage-specific DNA binding protein 2 (48kD)" xsd:string property_value: alternative:term "DDB p48 subunit" xsd:string property_value: alternative:term "DDBB" xsd:string property_value: alternative:term "FLJ34321" xsd:string property_value: alternative:term "UV-damaged DNA-binding protein 2" xsd:string property_value: alternative:term "UV-DDB2" xsd:string property_value: alternative:term "xeroderma pigmentosum group E protein" xsd:string property_value: symbol "DDB2" xsd:string [Term] id: Orphanet:121047 name: dopa decarboxylase (aromatic L-amino acid decarboxylase) xref: ENSEMBL:ENSG00000132437 xref: GENATLAS:DDC xref: HGNC:2719 xref: IUPHAR:1271 xref: OMIM:107930 xref: REACTOME:P20711 xref: UNIPROTKB/SWISSPROT:P20711 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:35708 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Aromatic L-amino acid decarboxylase deficiency property_value: alternative:term "AADC" xsd:string property_value: symbol "DDC" xsd:string [Term] id: Orphanet:121053 name: desmin xref: ENSEMBL:ENSG00000175084 xref: GENATLAS:DES xref: HGNC:2770 xref: OMIM:125660 xref: REACTOME:P17661 xref: UNIPROTKB/SWISSPROT:P17661 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317343 Orphanet:34517 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant limb-girdle muscular dystrophy type 1E relationship: Orphanet:317343 Orphanet:363543 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency relationship: Orphanet:317343 Orphanet:85146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Scapuloperoneal amyotrophy relationship: Orphanet:317343 Orphanet:98909 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Desminopathy property_value: alternative:term "CMD1I" xsd:string property_value: alternative:term "CSM1" xsd:string property_value: alternative:term "CSM2" xsd:string property_value: alternative:term "intermediate filament protein" xsd:string property_value: symbol "DES" xsd:string [Term] id: Orphanet:121056 name: deafness, autosomal dominant 5 xref: ENSEMBL:ENSG00000105928 xref: GENATLAS:DFNA5 xref: HGNC:2810 xref: OMIM:608798 xref: UNIPROTKB/SWISSPROT:O60443 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA property_value: alternative:term "ICERE-1" xsd:string property_value: symbol "DFNA5" xsd:string [Term] id: Orphanet:121059 name: deoxyguanosine kinase xref: ENSEMBL:ENSG00000114956 xref: GENATLAS:DGUOK xref: HGNC:2858 xref: OMIM:601465 xref: REACTOME:Q16854 xref: UNIPROTKB/SWISSPROT:Q16854 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:279934 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency relationship: Orphanet:317343 Orphanet:329314 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency property_value: alternative:term "dGK" xsd:string property_value: symbol "DGUOK" xsd:string [Term] id: Orphanet:121062 name: 24-dehydrocholesterol reductase xref: ENSEMBL:ENSG00000116133 xref: GENATLAS:DHCR24 xref: HGNC:2859 xref: OMIM:606418 xref: REACTOME:Q15392 xref: UNIPROTKB/SWISSPROT:Q15392 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:35107 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Desmosterolosis property_value: alternative:term "KIAA0018" xsd:string property_value: alternative:term "seladin-1" xsd:string property_value: symbol "DHCR24" xsd:string [Term] id: Orphanet:121066 name: 7-dehydrocholesterol reductase xref: ENSEMBL:ENSG00000172893 xref: GENATLAS:DHCR7 xref: HGNC:2860 xref: OMIM:602858 xref: REACTOME:Q9UBM7 xref: UNIPROTKB/SWISSPROT:Q9UBM7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:818 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Smith-Lemli-Opitz syndrome property_value: alternative:term "SLOS" xsd:string property_value: alternative:term "Smith-Lemli-Opitz syndrome" xsd:string property_value: symbol "DHCR7" xsd:string [Term] id: Orphanet:121069 name: desert hedgehog xref: ENSEMBL:ENSG00000139549 xref: GENATLAS:DHH xref: HGNC:2865 xref: OMIM:605423 xref: REACTOME:O43323 xref: UNIPROTKB/SWISSPROT:O43323 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:168563 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XY gonadal dysgenesis - motor and sensory neuropathy relationship: Orphanet:317343 Orphanet:242 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XY complete gonadal dysgenesis property_value: alternative:term "desert hedgehog (Drosophila) homolog" xsd:string property_value: alternative:term "Desert hedgehog homolog (Drosophila)" xsd:string property_value: alternative:term "HHG-3" xsd:string property_value: alternative:term "MGC35145" xsd:string property_value: symbol "DHH" xsd:string [Term] id: Orphanet:121073 name: diaphanous-related formin 1 xref: ENSEMBL:ENSG00000131504 xref: GENATLAS:DIAPH1 xref: HGNC:2876 xref: OMIM:602121 xref: UNIPROTKB/SWISSPROT:O60610 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA property_value: alternative:term "DFNA1" xsd:string property_value: alternative:term "diaphanous (Drosophila, homolog) 1" xsd:string property_value: alternative:term "Diaphanous homolog 1 (Drosophila)" xsd:string property_value: alternative:term "hDIA1" xsd:string property_value: alternative:term "LFHL1" xsd:string property_value: symbol "DIAPH1" xsd:string [Term] id: Orphanet:121084 name: disrupted in renal carcinoma 1 xref: ENSEMBL:ENSG00000174325 xref: GENATLAS:DIRC1 xref: HGNC:15760 xref: OMIM:606423 xref: UNIPROTKB/SWISSPROT:Q969H9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:151 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial renal cell carcinoma property_value: symbol "DIRC1" xsd:string [Term] id: Orphanet:121086 name: disrupted in renal carcinoma 2 xref: ENSEMBL:ENSG00000138463 xref: GENATLAS:DIRC2 xref: HGNC:16628 xref: OMIM:602773 xref: UNIPROTKB/SWISSPROT:Q96SL1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:151 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial renal cell carcinoma property_value: alternative:term "disrupted in renal cancer protein 2" xsd:string property_value: alternative:term "FLJ14784" xsd:string property_value: alternative:term "RCC4" xsd:string property_value: alternative:term "renal cell carcinoma 4" xsd:string property_value: symbol "DIRC2" xsd:string [Term] id: Orphanet:121091 name: dyskeratosis congenita 1, dyskerin xref: ENSEMBL:ENSG00000130826 xref: GENATLAS:DKC1 xref: HGNC:2890 xref: OMIM:300126 xref: REACTOME:O60832 xref: UNIPROTKB/SWISSPROT:O60832 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1775 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dyskeratosis congenita relationship: Orphanet:317343 Orphanet:3322 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hoyeraal-Hreidarsson syndrome property_value: alternative:term "DKC" xsd:string property_value: alternative:term "dyskerin" xsd:string property_value: alternative:term "NAP57" xsd:string property_value: alternative:term "NOLA4" xsd:string property_value: alternative:term "XAP101" xsd:string property_value: symbol "DKC1" xsd:string [Term] id: Orphanet:121098 name: dihydrolipoamide S-acetyltransferase xref: ENSEMBL:ENSG00000150768 xref: GENATLAS:DLAT xref: HGNC:2896 xref: OMIM:608770 xref: REACTOME:P10515 xref: UNIPROTKB/SWISSPROT:P10515 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pyruvate dehydrogenase E2 deficiency property_value: alternative:term "Dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex)" xsd:string property_value: alternative:term "DLTA" xsd:string property_value: alternative:term "E2 component of pyruvate dehydrogenase complex" xsd:string property_value: alternative:term "PDC-E2" xsd:string property_value: symbol "DLAT" xsd:string [Term] id: Orphanet:121102 name: dihydrolipoamide dehydrogenase xref: ENSEMBL:ENSG00000091140 xref: GENATLAS:DLD xref: HGNC:2898 xref: OMIM:238331 xref: REACTOME:P09622 xref: UNIPROTKB/SWISSPROT:P09622 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2394 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pyruvate dehydrogenase E3 deficiency relationship: Orphanet:317343 Orphanet:255249 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with nephrotic syndrome relationship: Orphanet:317343 Orphanet:268145 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Classic maple syrup urine disease relationship: Orphanet:317343 Orphanet:268162 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intermediate maple syrup urine disease relationship: Orphanet:317343 Orphanet:268173 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intermittent maple syrup urine disease relationship: Orphanet:317343 Orphanet:268184 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thiamine-responsive maple syrup urine disease property_value: alternative:term "DLDH" xsd:string property_value: alternative:term "E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex" xsd:string property_value: alternative:term "GCSL" xsd:string property_value: alternative:term "LAD" xsd:string property_value: symbol "DLD" xsd:string [Term] id: Orphanet:121110 name: delta-like 3 (Drosophila) xref: ENSEMBL:ENSG00000090932 xref: GENATLAS:DLL3 xref: HGNC:2909 xref: OMIM:602768 xref: UNIPROTKB/SWISSPROT:Q9NYJ7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2311 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spondylocostal dysostosis property_value: alternative:term "delta (Drosophila)-like 3" xsd:string property_value: alternative:term "SCDO1" xsd:string property_value: symbol "DLL3" xsd:string [Term] id: Orphanet:121113 name: distal-less homeobox 3 xref: ENSEMBL:ENSG00000064195 xref: GENATLAS:DLX3 xref: HGNC:2916 xref: OMIM:600525 xref: UNIPROTKB/SWISSPROT:O60479 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100034 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism relationship: Orphanet:317343 Orphanet:3352 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tricho-dento-osseous syndrome property_value: alternative:term "distal-less homeo box 3" xsd:string property_value: symbol "DLX3" xsd:string [Term] id: Orphanet:121117 name: dystrophin xref: ENSEMBL:ENSG00000198947 xref: GENATLAS:DMD xref: HGNC:2928 xref: OMIM:300377 xref: REACTOME:P11532 xref: UNIPROTKB/SWISSPROT:P11532 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317343 Orphanet:206546 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers relationship: Orphanet:317343 Orphanet:215 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital stationary night blindness relationship: Orphanet:317343 Orphanet:98895 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Becker muscular dystrophy relationship: Orphanet:317343 Orphanet:98896 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Duchenne muscular dystrophy property_value: alternative:term "BMD" xsd:string property_value: alternative:term "DXS142" xsd:string property_value: alternative:term "DXS164" xsd:string property_value: alternative:term "DXS206" xsd:string property_value: alternative:term "DXS230" xsd:string property_value: alternative:term "DXS239" xsd:string property_value: alternative:term "DXS268" xsd:string property_value: alternative:term "DXS269" xsd:string property_value: alternative:term "DXS270" xsd:string property_value: alternative:term "DXS272" xsd:string property_value: alternative:term "Dystrophin (muscular dystrophy, Duchenne and Becker types)" xsd:string property_value: alternative:term "muscular dystrophy, Duchenne and Becker types" xsd:string property_value: symbol "DMD" xsd:string [Term] id: Orphanet:121129 name: dentin matrix acidic phosphoprotein 1 xref: ENSEMBL:ENSG00000152592 xref: GENATLAS:DMP1 xref: HGNC:2932 xref: OMIM:600980 xref: REACTOME:Q13316 xref: UNIPROTKB/SWISSPROT:Q13316 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289176 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive hypophosphatemic rickets property_value: alternative:term "Dentin matrix acidic phosphoprotein" xsd:string property_value: symbol "DMP1" xsd:string [Term] id: Orphanet:121131 name: dystrophia myotonica-protein kinase xref: ENSEMBL:ENSG00000104936 xref: GENATLAS:DMPK xref: HGNC:2933 xref: IUPHAR:1505 xref: OMIM:605377 xref: UNIPROTKB/SWISSPROT:Q09013 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:273 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Steinert myotonic dystrophy property_value: alternative:term "DM" xsd:string property_value: alternative:term "DM protein kinase" xsd:string property_value: alternative:term "DM1" xsd:string property_value: alternative:term "DM1PK" xsd:string property_value: alternative:term "DMK" xsd:string property_value: alternative:term "dystrophia myotonica 1" xsd:string property_value: alternative:term "MDPK" xsd:string property_value: alternative:term "MT-PK" xsd:string property_value: alternative:term "myotonic dystrophy associated protein kinase" xsd:string property_value: alternative:term "myotonin protein kinase A" xsd:string property_value: alternative:term "thymopoietin homolog" xsd:string property_value: symbol "DMPK" xsd:string [Term] id: Orphanet:121134 name: dynein, axonemal, heavy chain 11 xref: ENSEMBL:ENSG00000105877 xref: GENATLAS:DNAH11 xref: HGNC:2942 xref: OMIM:603339 xref: UNIPROTKB/SWISSPROT:Q96DT5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "CILD7" xsd:string property_value: alternative:term "DNAHBL" xsd:string property_value: alternative:term "Dnahc11" xsd:string property_value: alternative:term "DNHBL" xsd:string property_value: alternative:term "DPL11" xsd:string property_value: alternative:term "dynein, axonemal, heavy polypeptide 11" xsd:string property_value: alternative:term "dynein, ciliary, heavy chain 11" xsd:string property_value: alternative:term "dynein, heavy chain beta-like" xsd:string property_value: symbol "DNAH11" xsd:string [Term] id: Orphanet:121137 name: dynein, axonemal, heavy chain 5 xref: ENSEMBL:ENSG00000039139 xref: GENATLAS:DNAH5 xref: HGNC:2950 xref: OMIM:603335 xref: UNIPROTKB/SWISSPROT:Q8TE73 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "CILD3" xsd:string property_value: alternative:term "Dnahc5" xsd:string property_value: alternative:term "dynein heavy chain 5" xsd:string property_value: alternative:term "dynein, axonemal, heavy polypeptide 5" xsd:string property_value: alternative:term "HL1" xsd:string property_value: alternative:term "KTGNR" xsd:string property_value: alternative:term "PCD" xsd:string property_value: symbol "DNAH5" xsd:string [Term] id: Orphanet:121143 name: dynein, axonemal, intermediate chain 1 xref: ENSEMBL:ENSG00000122735 xref: GENATLAS:DNAI1 xref: HGNC:2954 xref: OMIM:604366 xref: UNIPROTKB/SWISSPROT:Q9UI46 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "CILD1" xsd:string property_value: alternative:term "DIC1" xsd:string property_value: alternative:term "dynein, axonemal, intermediate polypeptide 1" xsd:string property_value: alternative:term "PCD" xsd:string property_value: symbol "DNAI1" xsd:string [Term] id: Orphanet:121147 name: dynamin 2 xref: ENSEMBL:ENSG00000079805 xref: GENATLAS:DNM2 xref: HGNC:2974 xref: OMIM:602378 xref: REACTOME:P50570 xref: UNIPROTKB/SWISSPROT:P50570 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100044 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant intermediate Charcot-Marie-Tooth disease type B relationship: Orphanet:317343 Orphanet:169189 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant centronuclear myopathy relationship: Orphanet:317343 Orphanet:228179 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Charcot-Marie-Tooth disease type 2M relationship: Orphanet:317343 Orphanet:363409 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fetal akinesia-cerebral and retinal hemorrhage syndrome property_value: alternative:term "CMTDI1" xsd:string property_value: alternative:term "CMTDIB" xsd:string property_value: alternative:term "cytoskeletal protein" xsd:string property_value: alternative:term "DI-CMTB" xsd:string property_value: alternative:term "DYN2" xsd:string property_value: alternative:term "dynamin II" xsd:string property_value: alternative:term "DYNII" xsd:string property_value: symbol "DNM2" xsd:string [Term] id: Orphanet:121150 name: DNA (cytosine-5-)-methyltransferase 3 beta xref: ENSEMBL:ENSG00000088305 xref: GENATLAS:DNMT3B xref: HGNC:2979 xref: OMIM:602900 xref: UNIPROTKB/SWISSPROT:Q9UBC3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2268 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! ICF syndrome property_value: symbol "DNMT3B" xsd:string [Term] id: Orphanet:121152 name: docking protein 7 xref: ENSEMBL:ENSG00000175920 xref: GENATLAS:DOK7 xref: HGNC:26594 xref: OMIM:610285 xref: UNIPROTKB/SWISSPROT:Q18PE1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98913 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Postsynaptic congenital myasthenic syndromes relationship: Orphanet:317345 Orphanet:994 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Fetal akinesia deformation sequence property_value: alternative:term "C4orf25" xsd:string property_value: alternative:term "chromosome 4 open reading frame 25" xsd:string property_value: alternative:term "Dok-7" xsd:string property_value: alternative:term "FLJ33718" xsd:string property_value: alternative:term "FLJ39137" xsd:string property_value: symbol "DOK7" xsd:string [Term] id: Orphanet:121158 name: dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) xref: ENSEMBL:ENSG00000172269 xref: GENATLAS:DPAGT1 xref: HGNC:2995 xref: OMIM:191350 xref: REACTOME:Q9H3H5 xref: UNIPROTKB/SWISSPROT:Q9H3H5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:353327 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital myasthenic syndromes with glycosylation defect relationship: Orphanet:317343 Orphanet:86309 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! DPAGT1-CDG property_value: alternative:term "ALG7" xsd:string property_value: alternative:term "CDG-Ij" xsd:string property_value: alternative:term "D11S366" xsd:string property_value: alternative:term "DGPT" xsd:string property_value: alternative:term "DPAGT" xsd:string property_value: alternative:term "DPAGT2" xsd:string property_value: alternative:term "GPT" xsd:string property_value: symbol "DPAGT1" xsd:string [Term] id: Orphanet:121167 name: dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit xref: ENSEMBL:ENSG00000000419 xref: GENATLAS:DPM1 xref: HGNC:3005 xref: OMIM:603503 xref: REACTOME:O60762 xref: UNIPROTKB/SWISSPROT:O60762 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79322 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! DPM1-CDG property_value: alternative:term "CDGIE" xsd:string property_value: alternative:term "DPM synthase complex, catalytic subunit" xsd:string property_value: alternative:term "MPDS" xsd:string property_value: symbol "DPM1" xsd:string [Term] id: Orphanet:121171 name: dihydropyrimidine dehydrogenase xref: ENSEMBL:ENSG00000188641 xref: GENATLAS:DPYD xref: HGNC:3012 xref: OMIM:612779 xref: REACTOME:Q12882 xref: UNIPROTKB/SWISSPROT:Q12882 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1675 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dihydropyrimidine dehydrogenase deficiency relationship: Orphanet:317349 Orphanet:293948 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 1p21.3 microdeletion syndrome property_value: alternative:term "DPD" xsd:string property_value: symbol "DPYD" xsd:string [Term] id: Orphanet:121174 name: dihydropyrimidinase xref: ENSEMBL:ENSG00000147647 xref: GENATLAS:DPYS xref: HGNC:3013 xref: OMIM:613326 xref: REACTOME:Q14117 xref: UNIPROTKB/SWISSPROT:Q14117 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:38874 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dihydropyrimidinuria property_value: alternative:term "DHPase" xsd:string property_value: symbol "DPYS" xsd:string [Term] id: Orphanet:121177 name: dopamine receptor D2 xref: ENSEMBL:ENSG00000149295 xref: GENATLAS:DRD2 xref: HGNC:3023 xref: IUPHAR:215 xref: OMIM:126450 xref: REACTOME:P14416 xref: UNIPROTKB/SWISSPROT:P14416 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:36899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myoclonus-dystonia syndrome property_value: symbol "DRD2" xsd:string [Term] id: Orphanet:121181 name: dopamine receptor D5 xref: ENSEMBL:ENSG00000169676 xref: GENATLAS:DRD5 xref: HGNC:3026 xref: IUPHAR:218 xref: OMIM:126453 xref: REACTOME:P21918 xref: UNIPROTKB/SWISSPROT:P21918 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:93955 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Benign essential blepharospasm relationship: Orphanet:317345 Orphanet:93962 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant cervical dystonia property_value: alternative:term "DRD1B" xsd:string property_value: alternative:term "DRD1L2" xsd:string property_value: symbol "DRD5" xsd:string [Term] id: Orphanet:121185 name: desmocollin 2 xref: ENSEMBL:ENSG00000134755 xref: GENATLAS:DSC2 xref: HGNC:3036 xref: OMIM:125645 xref: UNIPROTKB/SWISSPROT:Q02487 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:293888 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, left dominant form relationship: Orphanet:317343 Orphanet:293899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, biventricular form relationship: Orphanet:317343 Orphanet:293910 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, right dominant form property_value: alternative:term "CDHF2" xsd:string property_value: alternative:term "DSC3" xsd:string property_value: symbol "DSC2" xsd:string [Term] id: Orphanet:121189 name: desmoglein 1 xref: ENSEMBL:ENSG00000134760 xref: GENATLAS:DSG1 xref: HGNC:3048 xref: OMIM:125670 xref: REACTOME:Q02413 xref: UNIPROTKB/SWISSPROT:Q02413 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:369992 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe dermatitis-multiple allergies-metabolic wasting syndrome relationship: Orphanet:317343 Orphanet:369999 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Diffuse palmoplantar keratoderma with painful fissures relationship: Orphanet:317343 Orphanet:370002 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Focal palmoplantar keratoderma with joint keratoses relationship: Orphanet:317343 Orphanet:50942 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Keratosis palmoplantaris striata property_value: alternative:term "CDHF4" xsd:string property_value: alternative:term "DSG" xsd:string property_value: symbol "DSG1" xsd:string [Term] id: Orphanet:121193 name: desmoglein 2 xref: ENSEMBL:ENSG00000046604 xref: GENATLAS:DSG2 xref: HGNC:3049 xref: OMIM:125671 xref: REACTOME:Q14126 xref: UNIPROTKB/SWISSPROT:Q14126 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317343 Orphanet:293888 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, left dominant form relationship: Orphanet:317343 Orphanet:293899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, biventricular form relationship: Orphanet:317343 Orphanet:293910 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, right dominant form property_value: alternative:term "CDHF5" xsd:string property_value: symbol "DSG2" xsd:string [Term] id: Orphanet:121196 name: desmoplakin xref: ENSEMBL:ENSG00000096696 xref: GENATLAS:DSP xref: HGNC:3052 xref: OMIM:125647 xref: REACTOME:P15924 xref: UNIPROTKB/SWISSPROT:P15924 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:158687 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lethal acantholytic epidermolysis bullosa relationship: Orphanet:317343 Orphanet:293165 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Skin fragility-woolly hair-palmoplantar keratoderma syndrome relationship: Orphanet:317343 Orphanet:293888 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, left dominant form relationship: Orphanet:317343 Orphanet:293899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, biventricular form relationship: Orphanet:317343 Orphanet:293910 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, right dominant form relationship: Orphanet:317343 Orphanet:50942 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Keratosis palmoplantaris striata relationship: Orphanet:317343 Orphanet:65282 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome relationship: Orphanet:317345 Orphanet:2032 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic pulmonary fibrosis property_value: alternative:term "desmoplakin (DPI, DPII)" xsd:string property_value: alternative:term "DPI" xsd:string property_value: alternative:term "DPII" xsd:string property_value: alternative:term "KPPS2" xsd:string property_value: alternative:term "PPKS2" xsd:string property_value: symbol "DSP" xsd:string [Term] id: Orphanet:121202 name: dentin sialophosphoprotein xref: ENSEMBL:ENSG00000152591 xref: GENATLAS:DSPP xref: HGNC:3054 xref: OMIM:125485 xref: REACTOME:Q9NZW4 xref: UNIPROTKB/SWISSPROT:Q9NZW4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:166260 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dentinogenesis imperfecta type 2 relationship: Orphanet:317343 Orphanet:166265 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dentinogenesis imperfecta type 3 relationship: Orphanet:317343 Orphanet:99789 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dentin dysplasia type I relationship: Orphanet:317343 Orphanet:99791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dentin dysplasia type II property_value: alternative:term "DFNA39" xsd:string property_value: alternative:term "DGI1" xsd:string property_value: alternative:term "DMP3" xsd:string property_value: symbol "DSPP" xsd:string [Term] id: Orphanet:121219 name: dystrobrevin, alpha xref: ENSEMBL:ENSG00000134769 xref: GENATLAS:DTNA xref: HGNC:3057 xref: OMIM:601239 xref: UNIPROTKB/SWISSPROT:Q9Y4J8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:54260 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Left ventricular noncompaction property_value: alternative:term "D18S892E" xsd:string property_value: alternative:term "DRP3" xsd:string property_value: alternative:term "DTN" xsd:string property_value: alternative:term "DTN-1" xsd:string property_value: alternative:term "DTN-2" xsd:string property_value: alternative:term "DTN-3" xsd:string property_value: alternative:term "dystrophin-related protein 3" xsd:string property_value: symbol "DTNA" xsd:string [Term] id: Orphanet:121227 name: dystrobrevin binding protein 1 xref: ENSEMBL:ENSG00000047579 xref: GENATLAS:DTNBP1 xref: HGNC:17328 xref: OMIM:607145 xref: REACTOME:Q96EV8 xref: UNIPROTKB/SWISSPROT:Q96EV8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231531 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hermansky-Pudlak syndrome type 7 property_value: alternative:term "biogenesis of lysosomal organelles complex-1, subunit 8" xsd:string property_value: alternative:term "BLOC1S8" xsd:string property_value: alternative:term "DBND" xsd:string property_value: alternative:term "Dysbindin" xsd:string property_value: alternative:term "dysbindin-1" xsd:string property_value: alternative:term "HPS7" xsd:string property_value: alternative:term "My031" xsd:string property_value: symbol "DTNBP1" xsd:string [Term] id: Orphanet:121233 name: dual oxidase 2 xref: ENSEMBL:ENSG00000140279 xref: GENATLAS:DUOX2 xref: HGNC:13273 xref: OMIM:606759 xref: UNIPROTKB/SWISSPROT:Q9NRD8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:226316 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Genetic transient congenital hypothyroidism relationship: Orphanet:317343 Orphanet:95716 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial thyroid dyshormonogenesis property_value: alternative:term "dual oxidase-like domains 2" xsd:string property_value: alternative:term "flavoprotein NADPH oxidase" xsd:string property_value: alternative:term "LNOX2" xsd:string property_value: alternative:term "NADH/NADPH thyroid oxidase p138-tox" xsd:string property_value: alternative:term "NADPH oxidase/peroxidase DUOX2" xsd:string property_value: alternative:term "NADPH thyroid oxidase 2" xsd:string property_value: alternative:term "nicotinamide adenine dinucleotide phosphate oxidase" xsd:string property_value: alternative:term "P138(TOX)" xsd:string property_value: alternative:term "P138-TOX" xsd:string property_value: alternative:term "THOX2" xsd:string property_value: symbol "DUOX2" xsd:string [Term] id: Orphanet:121239 name: double homeobox 4 xref: ENSEMBL:ENSG00000258389 xref: GENATLAS:DUX4 xref: HGNC:3082 xref: OMIM:606009 xref: UNIPROTKB/SWISSPROT:Q9UBX2 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:269 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Facioscapulohumeral dystrophy property_value: alternative:term "Double homeobox, 4" xsd:string property_value: symbol "DUX4" xsd:string [Term] id: Orphanet:121241 name: dymeclin xref: ENSEMBL:ENSG00000141627 xref: GENATLAS:DYM xref: HGNC:21317 xref: OMIM:607461 xref: UNIPROTKB/SWISSPROT:Q7RTS9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178355 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Smith-McCort dysplasia relationship: Orphanet:317343 Orphanet:239 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dyggve-Melchior-Clausen disease property_value: alternative:term "DMC" xsd:string property_value: alternative:term "FLJ20071" xsd:string property_value: alternative:term "SMC" xsd:string property_value: symbol "DYM" xsd:string [Term] id: Orphanet:121246 name: dysferlin xref: ENSEMBL:ENSG00000135636 xref: GENATLAS:DYSF xref: HGNC:3097 xref: OMIM:603009 xref: UNIPROTKB/SWISSPROT:O75923 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178400 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Distal myopathy with anterior tibial onset relationship: Orphanet:317343 Orphanet:199329 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital myopathy, Paradas type relationship: Orphanet:317343 Orphanet:268 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive limb-girdle muscular dystrophy type 2B relationship: Orphanet:317343 Orphanet:45448 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Miyoshi myopathy property_value: alternative:term "Dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)" xsd:string property_value: alternative:term "FER1L1" xsd:string property_value: alternative:term "LGMD2B" xsd:string property_value: alternative:term "limb girdle muscular dystrophy 2B (autosomal recessive)" xsd:string property_value: symbol "DYSF" xsd:string [Term] id: Orphanet:121250 name: emopamil binding protein (sterol isomerase) xref: ENSEMBL:ENSG00000147155 xref: GENATLAS:EBP xref: HGNC:3133 xref: OMIM:300205 xref: REACTOME:Q15125 xref: UNIPROTKB/SWISSPROT:Q15125 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:35173 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked dominant chondrodysplasia punctata property_value: alternative:term "3-beta-hydroxysteroid-delta-8,delta-7-isomerase" xsd:string property_value: alternative:term "CDPX2" xsd:string property_value: alternative:term "CHO2" xsd:string property_value: alternative:term "Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)" xsd:string property_value: alternative:term "CPX" xsd:string property_value: alternative:term "CPXD" xsd:string property_value: alternative:term "emopamil-binding protein (sterol isomerase)" xsd:string property_value: alternative:term "sterol 8-isomerase" xsd:string property_value: symbol "EBP" xsd:string [Term] id: Orphanet:121255 name: endothelin converting enzyme 1 xref: ENSEMBL:ENSG00000117298 xref: GENATLAS:ECE1 xref: HGNC:3146 xref: IUPHAR:1615 xref: OMIM:600423 xref: UNIPROTKB/SWISSPROT:P42892 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:388 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hirschsprung disease property_value: alternative:term "ECE" xsd:string property_value: symbol "ECE1" xsd:string [Term] id: Orphanet:121261 name: extracellular matrix protein 1 xref: ENSEMBL:ENSG00000143369 xref: GENATLAS:ECM1 xref: HGNC:3153 xref: OMIM:602201 xref: UNIPROTKB/SWISSPROT:Q16610 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:530 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lipoid proteinosis property_value: symbol "ECM1" xsd:string [Term] id: Orphanet:121263 name: ectodysplasin A xref: ENSEMBL:ENSG00000158813 xref: GENATLAS:EDA xref: HGNC:3157 xref: OMIM:300451 xref: UNIPROTKB/SWISSPROT:Q92838 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:181 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked hypohidrotic ectodermal dysplasia relationship: Orphanet:317343 Orphanet:99798 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oligodontia property_value: alternative:term "ectodermal dysplasia 1, anhidrotic" xsd:string property_value: alternative:term "ED1" xsd:string property_value: alternative:term "ED1-A1" xsd:string property_value: alternative:term "ED1-A2" xsd:string property_value: alternative:term "EDA-A1" xsd:string property_value: alternative:term "EDA-A2" xsd:string property_value: alternative:term "EDA1" xsd:string property_value: alternative:term "EDA2" xsd:string property_value: alternative:term "HED" xsd:string property_value: alternative:term "ODT1" xsd:string property_value: alternative:term "oligodontia 1" xsd:string property_value: alternative:term "XHED" xsd:string property_value: alternative:term "XLHED" xsd:string property_value: symbol "EDA" xsd:string [Term] id: Orphanet:121273 name: ectodysplasin A receptor xref: ENSEMBL:ENSG00000135960 xref: GENATLAS:EDAR xref: HGNC:2895 xref: OMIM:604095 xref: UNIPROTKB/SWISSPROT:Q9UNE0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1810 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant hypohidrotic ectodermal dysplasia relationship: Orphanet:317343 Orphanet:248 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive hypohidrotic ectodermal dysplasia property_value: alternative:term "DL" xsd:string property_value: alternative:term "ectodysplasin 1, anhidrotic receptor" xsd:string property_value: alternative:term "ED1R" xsd:string property_value: alternative:term "ED3" xsd:string property_value: alternative:term "ED5" xsd:string property_value: alternative:term "EDA1R" xsd:string property_value: alternative:term "EDA3" xsd:string property_value: alternative:term "Edar" xsd:string property_value: symbol "EDAR" xsd:string [Term] id: Orphanet:121282 name: EDAR-associated death domain xref: ENSEMBL:ENSG00000186197 xref: GENATLAS:EDARADD xref: HGNC:14341 xref: OMIM:606603 xref: UNIPROTKB/SWISSPROT:Q8WWZ3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1810 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant hypohidrotic ectodermal dysplasia relationship: Orphanet:317343 Orphanet:248 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive hypohidrotic ectodermal dysplasia relationship: Orphanet:317343 Orphanet:99798 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oligodontia property_value: symbol "EDARADD" xsd:string [Term] id: Orphanet:121284 name: endothelin 3 xref: ENSEMBL:ENSG00000124205 xref: GENATLAS:EDN3 xref: HGNC:3178 xref: OMIM:131242 xref: REACTOME:P14138 xref: UNIPROTKB/SWISSPROT:P14138 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:661 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ondine syndrome relationship: Orphanet:317343 Orphanet:897 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Waardenburg-Shah syndrome relationship: Orphanet:317345 Orphanet:388 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hirschsprung disease property_value: alternative:term "ET3" xsd:string property_value: symbol "EDN3" xsd:string [Term] id: Orphanet:121287 name: endothelin receptor type B xref: ENSEMBL:ENSG00000136160 xref: GENATLAS:EDNRB xref: HGNC:3180 xref: IUPHAR:220 xref: OMIM:131244 xref: REACTOME:P24530 xref: UNIPROTKB/SWISSPROT:P24530 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:897 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Waardenburg-Shah syndrome relationship: Orphanet:317345 Orphanet:388 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hirschsprung disease property_value: alternative:term "ETB" xsd:string property_value: alternative:term "HSCR" xsd:string property_value: alternative:term "HSCR2" xsd:string property_value: symbol "EDNRB" xsd:string [Term] id: Orphanet:121292 name: EGF containing fibulin-like extracellular matrix protein 1 xref: ENSEMBL:ENSG00000115380 xref: GENATLAS:EFEMP1 xref: HGNC:3218 xref: OMIM:601548 xref: REACTOME:Q12805 xref: UNIPROTKB/SWISSPROT:Q12805 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:75376 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial drusen property_value: alternative:term "DHRD" xsd:string property_value: alternative:term "EGF-containing fibulin-like extracellular matrix protein 1" xsd:string property_value: alternative:term "FBLN3" xsd:string property_value: alternative:term "FBNL" xsd:string property_value: alternative:term "fibrillin-like" xsd:string property_value: alternative:term "fibulin 3" xsd:string property_value: alternative:term "MTLV" xsd:string property_value: alternative:term "S1-5" xsd:string property_value: symbol "EFEMP1" xsd:string [Term] id: Orphanet:121299 name: EGF containing fibulin-like extracellular matrix protein 2 xref: ENSEMBL:ENSG00000172638 xref: GENATLAS:EFEMP2 xref: HGNC:3219 xref: OMIM:604633 xref: REACTOME:O95967 xref: UNIPROTKB/SWISSPROT:O95967 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314718 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lethal arteriopathy syndrome due to FBLN4 deficiency relationship: Orphanet:317343 Orphanet:90349 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive cutis laxa type 1 property_value: alternative:term "EGF-containing fibulin-like extracellular matrix protein 2" xsd:string property_value: alternative:term "FBLN4" xsd:string property_value: alternative:term "fibulin 4" xsd:string property_value: alternative:term "UPH1" xsd:string property_value: symbol "EFEMP2" xsd:string [Term] id: Orphanet:121303 name: EF-hand domain (C-terminal) containing 1 xref: ENSEMBL:ENSG00000096093 xref: GENATLAS:EFHC1 xref: HGNC:16406 xref: OMIM:608815 xref: UNIPROTKB/SWISSPROT:Q5JVL4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:307 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Juvenile myoclonic epilepsy relationship: Orphanet:317345 Orphanet:1941 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juvenile absence epilepsy property_value: symbol "EFHC1" xsd:string [Term] id: Orphanet:121305 name: ephrin-B1 xref: ENSEMBL:ENSG00000090776 xref: GENATLAS:EFNB1 xref: HGNC:3226 xref: OMIM:300035 xref: UNIPROTKB/SWISSPROT:P98172 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1520 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Craniofrontonasal dysplasia property_value: alternative:term "CFNS" xsd:string property_value: alternative:term "craniofrontonasal syndrome (craniofrontonasal dysplasia)" xsd:string property_value: alternative:term "Elk-L" xsd:string property_value: alternative:term "EPLG2" xsd:string property_value: alternative:term "LERK2" xsd:string property_value: symbol "EFNB1" xsd:string [Term] id: Orphanet:121311 name: epidermal growth factor receptor xref: ENSEMBL:ENSG00000146648 xref: GENATLAS:EGFR xref: HGNC:3236 xref: IUPHAR:1797 xref: OMIM:131550 xref: REACTOME:P00533 xref: UNIPROTKB/SWISSPROT:P00533 is_a: Orphanet:C010 ! gene relationship: Orphanet:317344 Orphanet:251576 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gliosarcoma relationship: Orphanet:317344 Orphanet:251579 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Giant cell glioblastoma relationship: Orphanet:317348 Orphanet:251576 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gliosarcoma relationship: Orphanet:317348 Orphanet:251579 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Giant cell glioblastoma property_value: alternative:term "epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)" xsd:string property_value: alternative:term "Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)" xsd:string property_value: alternative:term "ERBB" xsd:string property_value: alternative:term "ERBB1" xsd:string property_value: alternative:term "erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)" xsd:string property_value: symbol "EGFR" xsd:string [Term] id: Orphanet:121314 name: early growth response 2 xref: ENSEMBL:ENSG00000122877 xref: GENATLAS:EGR2 xref: HGNC:3239 xref: OMIM:129010 xref: REACTOME:P11161 xref: UNIPROTKB/SWISSPROT:P11161 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101084 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Charcot-Marie-Tooth disease type 1D relationship: Orphanet:317343 Orphanet:64748 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dejerine-Sottas syndrome relationship: Orphanet:317343 Orphanet:99951 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Charcot-Marie-Tooth disease type 4E property_value: alternative:term "Early growth response 2 (Krox-20 homolog, Drosophila)" xsd:string property_value: alternative:term "Krox-20 homolog, Drosophila" xsd:string property_value: alternative:term "KROX20" xsd:string property_value: symbol "EGR2" xsd:string [Term] id: Orphanet:121317 name: eukaryotic translation initiation factor 2-alpha kinase 3 xref: ENSEMBL:ENSG00000172071 xref: GENATLAS:EIF2AK3 xref: HGNC:3255 xref: IUPHAR:2017 xref: OMIM:604032 xref: REACTOME:Q9NZJ5 xref: UNIPROTKB/SWISSPROT:Q9NZJ5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1667 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Wolcott-Rallison syndrome property_value: alternative:term "PEK" xsd:string property_value: alternative:term "PERK" xsd:string property_value: symbol "EIF2AK3" xsd:string [Term] id: Orphanet:121320 name: eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa xref: ENSEMBL:ENSG00000111361 xref: GENATLAS:EIF2B1 xref: HGNC:3257 xref: OMIM:606686 xref: REACTOME:Q14232 xref: UNIPROTKB/SWISSPROT:Q14232 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99853 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ovarioleukodystrophy relationship: Orphanet:317343 Orphanet:99854 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cree leukoencephalopathy property_value: alternative:term "EIF-2B" xsd:string property_value: alternative:term "EIF-2Balpha" xsd:string property_value: alternative:term "EIF2B" xsd:string property_value: alternative:term "EIF2BA" xsd:string property_value: alternative:term "eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)" xsd:string property_value: symbol "EIF2B1" xsd:string [Term] id: Orphanet:121326 name: eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa xref: ENSEMBL:ENSG00000119718 xref: GENATLAS:EIF2B2 xref: HGNC:3258 xref: OMIM:606454 xref: REACTOME:P49770 xref: UNIPROTKB/SWISSPROT:P49770 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99853 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ovarioleukodystrophy relationship: Orphanet:317343 Orphanet:99854 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cree leukoencephalopathy property_value: alternative:term "EIF-2Bbeta" xsd:string property_value: alternative:term "EIF2B" xsd:string property_value: alternative:term "eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)" xsd:string property_value: symbol "EIF2B2" xsd:string [Term] id: Orphanet:121330 name: eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa xref: ENSEMBL:ENSG00000070785 xref: GENATLAS:EIF2B3 xref: HGNC:3259 xref: OMIM:606273 xref: REACTOME:Q9NR50 xref: UNIPROTKB/SWISSPROT:Q9NR50 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99853 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ovarioleukodystrophy relationship: Orphanet:317343 Orphanet:99854 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cree leukoencephalopathy property_value: alternative:term "EIF-2B" xsd:string property_value: alternative:term "EIF2Bgamma" xsd:string property_value: alternative:term "eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)" xsd:string property_value: symbol "EIF2B3" xsd:string [Term] id: Orphanet:121334 name: eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa xref: ENSEMBL:ENSG00000115211 xref: GENATLAS:EIF2B4 xref: HGNC:3260 xref: OMIM:606687 xref: REACTOME:Q9UI10 xref: UNIPROTKB/SWISSPROT:Q9UI10 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99853 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ovarioleukodystrophy relationship: Orphanet:317343 Orphanet:99854 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cree leukoencephalopathy property_value: alternative:term "DKFZP586J0119" xsd:string property_value: alternative:term "EIF-2B" xsd:string property_value: alternative:term "EIF2B" xsd:string property_value: alternative:term "EIF2Bdelta" xsd:string property_value: alternative:term "eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)" xsd:string property_value: symbol "EIF2B4" xsd:string [Term] id: Orphanet:121340 name: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa xref: ENSEMBL:ENSG00000145191 xref: GENATLAS:EIF2B5 xref: HGNC:3261 xref: OMIM:603945 xref: REACTOME:Q13144 xref: UNIPROTKB/SWISSPROT:Q13144 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99853 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ovarioleukodystrophy relationship: Orphanet:317343 Orphanet:99854 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cree leukoencephalopathy property_value: alternative:term "EIF-2B" xsd:string property_value: alternative:term "EIF2Bepsilon" xsd:string property_value: alternative:term "eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)" xsd:string property_value: symbol "EIF2B5" xsd:string [Term] id: Orphanet:121344 name: adenosine monophosphate deaminase 1 xref: ENSEMBL:ENSG00000116748 xref: GENATLAS:AMPD1 xref: HGNC:468 xref: OMIM:102770 xref: REACTOME:P23109 xref: UNIPROTKB/SWISSPROT:P23109 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:45 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adenosine monophosphate deaminase deficiency property_value: alternative:term "Adenosine monophosphate deaminase 1 (isoform M)" xsd:string property_value: alternative:term "AMPD isoform M" xsd:string property_value: alternative:term "MAD" xsd:string property_value: alternative:term "MADA" xsd:string property_value: alternative:term "skeletal muscle AMPD" xsd:string property_value: symbol "AMPD1" xsd:string [Term] id: Orphanet:121350 name: adenosine monophosphate deaminase 3 xref: ENSEMBL:ENSG00000133805 xref: GENATLAS:AMPD3 xref: HGNC:470 xref: OMIM:102772 xref: REACTOME:Q01432 xref: UNIPROTKB/SWISSPROT:Q01432 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:45 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adenosine monophosphate deaminase deficiency property_value: alternative:term "Adenosine monophosphate deaminase (isoform E)" xsd:string property_value: alternative:term "erythrocyte-specific AMP deaminase" xsd:string property_value: symbol "AMPD3" xsd:string [Term] id: Orphanet:121352 name: aminomethyltransferase xref: ENSEMBL:ENSG00000145020 xref: GENATLAS:AMT xref: HGNC:473 xref: OMIM:238310 xref: UNIPROTKB/SWISSPROT:P48728 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289857 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal glycine encephalopathy relationship: Orphanet:317343 Orphanet:289860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile glycine encephalopathy relationship: Orphanet:317343 Orphanet:289863 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atypical glycine encephalopathy property_value: alternative:term "aminomethyltransferase (glycine cleavage system protein T)" xsd:string property_value: alternative:term "GCST" xsd:string property_value: alternative:term "glycine cleavage system protein T" xsd:string property_value: alternative:term "NKH" xsd:string property_value: symbol "AMT" xsd:string [Term] id: Orphanet:121356 name: ankyrin 1, erythrocytic xref: ENSEMBL:ENSG00000029534 xref: GENATLAS:ANK1 xref: HGNC:492 xref: OMIM:612641 xref: REACTOME:P16157 xref: UNIPROTKB/SWISSPROT:P16157 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:822 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary spherocytosis relationship: Orphanet:317349 Orphanet:251066 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 8p11.2 deletion syndrome property_value: alternative:term "ANK" xsd:string property_value: alternative:term "SPH1" xsd:string property_value: symbol "ANK1" xsd:string [Term] id: Orphanet:121360 name: ankyrin 2, neuronal xref: ENSEMBL:ENSG00000145362 xref: GENATLAS:ANK2 xref: HGNC:493 xref: OMIM:106410 xref: REACTOME:Q01484 xref: UNIPROTKB/SWISSPROT:Q01484 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101016 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Romano-Ward syndrome property_value: alternative:term "long (electrocardiographic) QT syndrome 4" xsd:string property_value: alternative:term "LQT4" xsd:string property_value: symbol "ANK2" xsd:string [Term] id: Orphanet:121363 name: ANKH inorganic pyrophosphate transport regulator xref: ENSEMBL:ENSG00000154122 xref: GENATLAS:ANKH xref: HGNC:15492 xref: OMIM:605145 xref: UNIPROTKB/SWISSPROT:Q9HCJ1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1416 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial articular chondrocalcinosis relationship: Orphanet:317343 Orphanet:1522 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Craniometaphyseal dysplasia property_value: alternative:term "ANK" xsd:string property_value: alternative:term "ankylosis, progressive (mouse) homolog" xsd:string property_value: alternative:term "Ankylosis, progressive homolog (mouse)" xsd:string property_value: alternative:term "CCAL2" xsd:string property_value: alternative:term "CMDJ" xsd:string property_value: alternative:term "CPPDD" xsd:string property_value: alternative:term "craniometaphyseal dysplasia, Jackson type (dominant)" xsd:string property_value: alternative:term "HANK" xsd:string property_value: symbol "ANKH" xsd:string [Term] id: Orphanet:121369 name: anthrax toxin receptor 2 xref: ENSEMBL:ENSG00000163297 xref: GENATLAS:ANTXR2 xref: HGNC:21732 xref: OMIM:608041 xref: UNIPROTKB/SWISSPROT:P58335 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2028 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juvenile hyaline fibromatosis relationship: Orphanet:317343 Orphanet:2176 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile systemic hyalinosis property_value: alternative:term "capillary morphogenesis protein 2" xsd:string property_value: alternative:term "CMG-2" xsd:string property_value: alternative:term "CMG2" xsd:string property_value: alternative:term "FLJ31074" xsd:string property_value: symbol "ANTXR2" xsd:string [Term] id: Orphanet:121374 name: adaptor-related protein complex 3, beta 1 subunit xref: ENSEMBL:ENSG00000132842 xref: GENATLAS:AP3B1 xref: HGNC:566 xref: OMIM:603401 xref: REACTOME:O00203 xref: UNIPROTKB/SWISSPROT:O00203 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:183678 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hermansky-Pudlak syndrome with neutropenia property_value: alternative:term "ADTB3A" xsd:string property_value: alternative:term "HPS2" xsd:string property_value: symbol "AP3B1" xsd:string [Term] id: Orphanet:121380 name: apolipoprotein A-I xref: ENSEMBL:ENSG00000118137 xref: GENATLAS:APOA1 xref: HGNC:600 xref: OMIM:107680 xref: REACTOME:P02647 xref: UNIPROTKB/SWISSPROT:P02647 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314701 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary systemic amyloidosis relationship: Orphanet:317343 Orphanet:425 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Apolipoprotein A-I deficiency relationship: Orphanet:317343 Orphanet:93560 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial renal amyloidosis due to Apolipoprotein AI variant property_value: symbol "APOA1" xsd:string [Term] id: Orphanet:121382 name: apolipoprotein A-V xref: ENSEMBL:ENSG00000110243 xref: GENATLAS:APOA5 xref: HGNC:17288 xref: OMIM:606368 xref: REACTOME:Q6Q788 xref: UNIPROTKB/SWISSPROT:Q6Q788 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:413 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hyperlipoproteinemia type 4 relationship: Orphanet:317343 Orphanet:70470 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperlipoproteinemia type 5 property_value: alternative:term "APOA-V" xsd:string property_value: alternative:term "RAP3" xsd:string property_value: symbol "APOA5" xsd:string [Term] id: Orphanet:121388 name: apolipoprotein C-II xref: ENSEMBL:ENSG00000234906 xref: GENATLAS:APOC2 xref: HGNC:609 xref: OMIM:608083 xref: REACTOME:P02655 xref: UNIPROTKB/SWISSPROT:P02655 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:309020 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial apolipoprotein C-II deficiency property_value: symbol "APOC2" xsd:string [Term] id: Orphanet:121390 name: apolipoprotein E xref: ENSEMBL:ENSG00000130203 xref: GENATLAS:APOE xref: HGNC:613 xref: OMIM:107741 xref: REACTOME:P02649 xref: UNIPROTKB/SWISSPROT:P02649 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:158029 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sea-blue histiocytosis relationship: Orphanet:317343 Orphanet:329481 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lipoprotein glomerulopathy relationship: Orphanet:317343 Orphanet:412 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperlipidemia type 3 property_value: alternative:term "AD2" xsd:string property_value: alternative:term "Alzheimer disease 2 (APOE*E4-associated, late onset)" xsd:string property_value: symbol "APOE" xsd:string [Term] id: Orphanet:121393 name: amyloid beta (A4) precursor protein xref: ENSEMBL:ENSG00000142192 xref: GENATLAS:APP xref: HGNC:620 xref: OMIM:104760 xref: REACTOME:P05067 xref: UNIPROTKB/SWISSPROT:P05067 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100006 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary cerebral hemorrhage with amyloidosis, Dutch type relationship: Orphanet:317343 Orphanet:1020 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early-onset autosomal dominant Alzheimer disease relationship: Orphanet:317343 Orphanet:324703 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary cerebral hemorrhage with amyloidosis, Piedmont type relationship: Orphanet:317343 Orphanet:324708 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary cerebral hemorrhage with amyloidosis, Iowa type relationship: Orphanet:317343 Orphanet:324713 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary cerebral hemorrhage with amyloidosis, Italian type relationship: Orphanet:317343 Orphanet:324718 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary cerebral hemorrhage with amyloidosis, Flemish type relationship: Orphanet:317343 Orphanet:324723 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary cerebral hemorrhage with amyloidosis, Arctic type property_value: alternative:term "AD1" xsd:string property_value: alternative:term "Alzheimer disease" xsd:string property_value: alternative:term "Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease)" xsd:string property_value: alternative:term "peptidase nexin-II" xsd:string property_value: symbol "APP" xsd:string [Term] id: Orphanet:1214 name: Progressive hemifacial atrophy xref: ICD10:G51.8 xref: OMIM:141300 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102005 ! Brain inflammatory disease relationship: part_of Orphanet:166484 ! Inflammatory and autoimmune disease with epilepsy property_value: alternative:term "Parry-Romberg syndrome" xsd:string [Term] id: Orphanet:121400 name: adenine phosphoribosyltransferase xref: ENSEMBL:ENSG00000198931 xref: GENATLAS:APRT xref: HGNC:626 xref: OMIM:102600 xref: REACTOME:P07741 xref: UNIPROTKB/SWISSPROT:P07741 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:976 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adenine phosphoribosyltransferase deficiency property_value: symbol "APRT" xsd:string [Term] id: Orphanet:121402 name: aprataxin xref: ENSEMBL:ENSG00000137074 xref: GENATLAS:APTX xref: HGNC:15984 xref: OMIM:606350 xref: UNIPROTKB/SWISSPROT:Q7Z2E3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1168 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ataxia - oculomotor apraxia type 1 property_value: alternative:term "AOA" xsd:string property_value: alternative:term "AOA1" xsd:string property_value: alternative:term "ataxia 1, early onset with hypoalbuminemia" xsd:string property_value: alternative:term "AXA1" xsd:string property_value: alternative:term "EAOH" xsd:string property_value: alternative:term "EOAHA" xsd:string property_value: alternative:term "FLJ20157" xsd:string property_value: symbol "APTX" xsd:string [Term] id: Orphanet:121410 name: aquaporin 2 (collecting duct) xref: ENSEMBL:ENSG00000167580 xref: GENATLAS:AQP2 xref: HGNC:634 xref: OMIM:107777 xref: REACTOME:P41181 xref: UNIPROTKB/SWISSPROT:P41181 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:223 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nephrogenic diabetes insipidus property_value: symbol "AQP2" xsd:string [Term] id: Orphanet:121412 name: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) xref: ENSEMBL:ENSG00000124198 xref: GENATLAS:ARFGEF2 xref: HGNC:15853 xref: OMIM:605371 xref: REACTOME:Q9Y6D5 xref: UNIPROTKB/SWISSPROT:Q9Y6D5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98892 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Periventricular nodular heterotopia property_value: alternative:term "BIG2" xsd:string property_value: alternative:term "Brefeldin A-inhibited guanine nucleotide-exchange protein 2" xsd:string property_value: symbol "ARFGEF2" xsd:string [Term] id: Orphanet:121415 name: arginase 1 xref: ENSEMBL:ENSG00000118520 xref: GENATLAS:ARG1 xref: HGNC:663 xref: OMIM:608313 xref: REACTOME:P05089 xref: UNIPROTKB/SWISSPROT:P05089 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Argininemia property_value: alternative:term "Arginase, liver" xsd:string property_value: symbol "ARG1" xsd:string [Term] id: Orphanet:121417 name: ADP-ribosylation factor-like 11 xref: ENSEMBL:ENSG00000152213 xref: GENATLAS:ARL11 xref: HGNC:24046 xref: OMIM:609351 xref: UNIPROTKB/SWISSPROT:Q969Q4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:67038 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! B-cell chronic lymphocytic leukemia property_value: alternative:term "ARLTS1" xsd:string property_value: alternative:term "FLJ33930" xsd:string property_value: symbol "ARL11" xsd:string [Term] id: Orphanet:121421 name: ADP-ribosylation factor-like 6 xref: ENSEMBL:ENSG00000113966 xref: GENATLAS:ARL6 xref: HGNC:13210 xref: OMIM:608845 xref: UNIPROTKB/SWISSPROT:Q9H0F7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bardet-Biedl syndrome relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "BBS3" xsd:string property_value: symbol "ARL6" xsd:string [Term] id: Orphanet:121424 name: mesencephalic astrocyte-derived neurotrophic factor xref: ENSEMBL:ENSG00000145050 xref: GENATLAS:MANF xref: HGNC:15461 xref: OMIM:601916 xref: UNIPROTKB/SWISSPROT:P55145 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1333 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial pancreatic carcinoma property_value: alternative:term "arginine-rich, mutated in early stage tumors" xsd:string property_value: alternative:term "ARMET" xsd:string property_value: alternative:term "ARP" xsd:string property_value: symbol "MANF" xsd:string [Term] id: Orphanet:121427 name: arylsulfatase A xref: ENSEMBL:ENSG00000100299 xref: GENATLAS:ARSA xref: HGNC:713 xref: OMIM:607574 xref: REACTOME:P15289 xref: UNIPROTKB/SWISSPROT:P15289 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:309256 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Metachromatic leukodystrophy, late infantile form relationship: Orphanet:317343 Orphanet:309263 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Metachromatic leukodystrophy, juvenile form relationship: Orphanet:317343 Orphanet:309271 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Metachromatic leukodystrophy, adult form property_value: alternative:term "metachromatic leucodystrophy" xsd:string property_value: symbol "ARSA" xsd:string [Term] id: Orphanet:121429 name: arylsulfatase B xref: ENSEMBL:ENSG00000113273 xref: GENATLAS:ARSB xref: HGNC:714 xref: OMIM:611542 xref: REACTOME:P15848 xref: UNIPROTKB/SWISSPROT:P15848 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:276212 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mucopolysaccharidosis type 6, rapidly progressing relationship: Orphanet:317343 Orphanet:276223 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mucopolysaccharidosis type 6, slowly progressing property_value: symbol "ARSB" xsd:string [Term] id: Orphanet:121431 name: arylsulfatase E (chondrodysplasia punctata 1) xref: ENSEMBL:ENSG00000157399 xref: GENATLAS:ARSE xref: HGNC:719 xref: OMIM:300180 xref: REACTOME:P51690 xref: UNIPROTKB/SWISSPROT:P51690 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79345 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brachytelephalangic chondrodysplasia punctata property_value: alternative:term "CDPX" xsd:string property_value: alternative:term "CDPX1" xsd:string property_value: symbol "ARSE" xsd:string [Term] id: Orphanet:121435 name: armadillo repeat gene deleted in velocardiofacial syndrome xref: ENSEMBL:ENSG00000099889 xref: GENATLAS:ARVCF xref: HGNC:728 xref: OMIM:602269 xref: UNIPROTKB/SWISSPROT:O00192 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:567 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 22q11.2 deletion syndrome property_value: alternative:term "Armadillo repeat gene deletes in velocardiofacial syndrome" xsd:string property_value: symbol "ARVCF" xsd:string [Term] id: Orphanet:121437 name: aristaless related homeobox xref: ENSEMBL:ENSG00000004848 xref: GENATLAS:ARX xref: HGNC:18060 xref: OMIM:300382 xref: UNIPROTKB/SWISSPROT:Q96QS3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1934 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early infantile epileptic encephalopathy relationship: Orphanet:317343 Orphanet:2508 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Micrencephaly - corpus callosum agenesis - abnormal genitalia relationship: Orphanet:317343 Orphanet:3175 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spasticity - intellectual deficit - X-linked epilepsy relationship: Orphanet:317343 Orphanet:3451 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! West syndrome relationship: Orphanet:317343 Orphanet:364063 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile epileptic-dyskinetic encephalopathy relationship: Orphanet:317343 Orphanet:452 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked lissencephaly with abnormal genitalia relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit relationship: Orphanet:317343 Orphanet:94083 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Partington syndrome property_value: alternative:term "cancer/testis antigen 121" xsd:string property_value: alternative:term "CT121" xsd:string property_value: alternative:term "EIEE1" xsd:string property_value: alternative:term "ISSX" xsd:string property_value: alternative:term "mental retardation, X-linked 29" xsd:string property_value: alternative:term "mental retardation, X-linked 32" xsd:string property_value: alternative:term "mental retardation, X-linked 33" xsd:string property_value: alternative:term "mental retardation, X-linked 36" xsd:string property_value: alternative:term "mental retardation, X-linked 38" xsd:string property_value: alternative:term "mental retardation, X-linked 43" xsd:string property_value: alternative:term "mental retardation, X-linked 54" xsd:string property_value: alternative:term "mental retardation, X-linked 76" xsd:string property_value: alternative:term "mental retardation, X-linked 87" xsd:string property_value: alternative:term "MRX29" xsd:string property_value: alternative:term "MRX32" xsd:string property_value: alternative:term "MRX33" xsd:string property_value: alternative:term "MRX36" xsd:string property_value: alternative:term "MRX38" xsd:string property_value: alternative:term "MRX43" xsd:string property_value: alternative:term "MRX54" xsd:string property_value: alternative:term "MRX76" xsd:string property_value: alternative:term "MRX87" xsd:string property_value: alternative:term "MRXS1" xsd:string property_value: alternative:term "PRTS" xsd:string property_value: symbol "ARX" xsd:string [Term] id: Orphanet:121449 name: N-acylsphingosine amidohydrolase (acid ceramidase) 1 xref: ENSEMBL:ENSG00000104763 xref: GENATLAS:ASAH1 xref: HGNC:735 xref: OMIM:613468 xref: REACTOME:Q13510 xref: UNIPROTKB/SWISSPROT:Q13510 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2590 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary myoclonus - progressive distal muscular atrophy relationship: Orphanet:317343 Orphanet:333 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Farber lipogranulomatosis property_value: alternative:term "AC" xsd:string property_value: alternative:term "ASAH" xsd:string property_value: alternative:term "FLJ21558" xsd:string property_value: alternative:term "N-acylsphingosine amidohydrolase (acid ceramidase)" xsd:string property_value: alternative:term "PHP32" xsd:string property_value: symbol "ASAH1" xsd:string [Term] id: Orphanet:121455 name: argininosuccinate lyase xref: ENSEMBL:ENSG00000126522 xref: GENATLAS:ASL xref: HGNC:746 xref: OMIM:608310 xref: REACTOME:P04424 xref: UNIPROTKB/SWISSPROT:P04424 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:23 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Argininosuccinic aciduria property_value: symbol "ASL" xsd:string [Term] id: Orphanet:121457 name: aspartoacylase xref: ENSEMBL:ENSG00000108381 xref: GENATLAS:ASPA xref: HGNC:756 xref: OMIM:608034 xref: UNIPROTKB/SWISSPROT:P45381 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314911 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe Canavan disease relationship: Orphanet:317343 Orphanet:314918 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mild Canavan disease property_value: alternative:term "ACY2" xsd:string property_value: alternative:term "aminoacylase 2" xsd:string property_value: alternative:term "ASP" xsd:string property_value: alternative:term "aspartoacylase (aminoacylase 2, Canavan disease)" xsd:string property_value: alternative:term "Aspartoacylase (Canavan disease)" xsd:string property_value: alternative:term "Canavan disease" xsd:string property_value: symbol "ASPA" xsd:string [Term] id: Orphanet:121461 name: asp (abnormal spindle) homolog, microcephaly associated (Drosophila) xref: ENSEMBL:ENSG00000066279 xref: GENATLAS:ASPM xref: HGNC:19048 xref: OMIM:605481 xref: UNIPROTKB/SWISSPROT:Q8IZT6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2512 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive primary microcephaly property_value: alternative:term "ASP" xsd:string property_value: alternative:term "asp (abnormal spindle)-like, microcephaly associated (Drosophila)" xsd:string property_value: alternative:term "Calmbp1" xsd:string property_value: alternative:term "FLJ10517" xsd:string property_value: alternative:term "FLJ10549" xsd:string property_value: alternative:term "MCPH5" xsd:string property_value: alternative:term "microcephaly, primary autosomal recessive 5" xsd:string property_value: symbol "ASPM" xsd:string [Term] id: Orphanet:121468 name: argininosuccinate synthase 1 xref: ENSEMBL:ENSG00000130707 xref: GENATLAS:ASS1 xref: HGNC:758 xref: OMIM:603470 xref: REACTOME:P00966 xref: UNIPROTKB/SWISSPROT:P00966 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:247546 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute neonatal citrullinemia type I relationship: Orphanet:317343 Orphanet:247573 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adult-onset citrullinemia type I property_value: alternative:term "argininosuccinate synthetase" xsd:string property_value: alternative:term "Argininosuccinate synthetase 1" xsd:string property_value: alternative:term "ASS" xsd:string property_value: alternative:term "CTLN1" xsd:string property_value: symbol "ASS1" xsd:string [Term] id: Orphanet:121472 name: ataxia, cerebellar, Cayman type xref: ENSEMBL:ENSG00000167654 xref: GENATLAS:ATCAY xref: HGNC:779 xref: OMIM:608179 xref: UNIPROTKB/SWISSPROT:Q86WG3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:94122 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cerebellar ataxia, Cayman type property_value: alternative:term "Ataxia, cerebellar, Cayman type (caytaxin)" xsd:string property_value: alternative:term "Cayman ataxia" xsd:string property_value: alternative:term "caytaxin" xsd:string property_value: symbol "ATCAY" xsd:string [Term] id: Orphanet:121474 name: ataxia telangiectasia mutated xref: ENSEMBL:ENSG00000149311 xref: GENATLAS:ATM xref: HGNC:795 xref: IUPHAR:1934 xref: OMIM:607585 xref: REACTOME:Q13315 xref: UNIPROTKB/SWISSPROT:Q13315 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ataxia-telangiectasia relationship: Orphanet:317343 Orphanet:370109 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ataxia-telangiectasia variant relationship: Orphanet:317343 Orphanet:370114 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined cervical dystonia relationship: Orphanet:317344 Orphanet:52416 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mantle cell lymphoma relationship: Orphanet:317344 Orphanet:67038 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! B-cell chronic lymphocytic leukemia property_value: alternative:term "ATA" xsd:string property_value: alternative:term "ataxia telangiectasia mutated (includes complementation groups A, C and D)" xsd:string property_value: alternative:term "ATC" xsd:string property_value: alternative:term "ATD" xsd:string property_value: alternative:term "ATDC" xsd:string property_value: alternative:term "TEL1" xsd:string property_value: alternative:term "TEL1, telomere maintenance 1, homolog (S. cerevisiae)" xsd:string property_value: alternative:term "TELO1" xsd:string property_value: symbol "ATM" xsd:string [Term] id: Orphanet:121482 name: atrophin 1 xref: ENSEMBL:ENSG00000111676 xref: GENATLAS:ATN1 xref: HGNC:3033 xref: OMIM:607462 xref: UNIPROTKB/SWISSPROT:P54259 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dentatorubral pallidoluysian atrophy property_value: alternative:term "B37" xsd:string property_value: alternative:term "D12S755E" xsd:string property_value: alternative:term "dentatorubral-pallidoluysian atrophy (atrophin-1)" xsd:string property_value: alternative:term "DRPLA" xsd:string property_value: symbol "ATN1" xsd:string [Term] id: Orphanet:121487 name: ATPase, class V, type 10A xref: ENSEMBL:ENSG00000206190 xref: GENATLAS:ATP10A xref: HGNC:13542 xref: OMIM:605855 xref: REACTOME:O60312 xref: UNIPROTKB/SWISSPROT:O60312 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:72 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Angelman syndrome property_value: alternative:term "ATP10C" xsd:string property_value: alternative:term "ATPase, Class V, type 10A" xsd:string property_value: alternative:term "ATPase, Class V, type 10C" xsd:string property_value: alternative:term "ATPVA" xsd:string property_value: alternative:term "ATPVC" xsd:string property_value: alternative:term "KIAA0566" xsd:string property_value: symbol "ATP10A" xsd:string [Term] id: Orphanet:121493 name: ATPase type 13A2 xref: ENSEMBL:ENSG00000159363 xref: GENATLAS:ATP13A2 xref: HGNC:30213 xref: OMIM:610513 xref: UNIPROTKB/SWISSPROT:Q9NQ11 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:306674 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kufor-Rakeb syndrome relationship: Orphanet:317343 Orphanet:314632 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Parkinsonim due to ATP13A2 deficiency property_value: alternative:term "CLN12" xsd:string property_value: alternative:term "HSA9947" xsd:string property_value: alternative:term "PARK9" xsd:string property_value: alternative:term "Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)" xsd:string property_value: symbol "ATP13A2" xsd:string [Term] id: Orphanet:121497 name: ATPase, Na+/K+ transporting, alpha 2 polypeptide xref: ENSEMBL:ENSG00000018625 xref: GENATLAS:ATP1A2 xref: HGNC:800 xref: OMIM:182340 xref: REACTOME:P50993 xref: UNIPROTKB/SWISSPROT:P50993 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2131 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alternating hemiplegia of childhood relationship: Orphanet:317343 Orphanet:569 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial or sporadic hemiplegic migraine property_value: alternative:term "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide" xsd:string property_value: alternative:term "FHM2" xsd:string property_value: alternative:term "MHP2" xsd:string property_value: alternative:term "migraine, hemiplegic 2" xsd:string property_value: alternative:term "sodium pump subunit alpha-2" xsd:string property_value: alternative:term "sodium-potassium ATPase catalytic subunit alpha-2" xsd:string property_value: alternative:term "sodium/potassium-transporting ATPase subunit alpha-2" xsd:string property_value: symbol "ATP1A2" xsd:string [Term] id: Orphanet:1215 name: Autosomal dominant optic atrophy plus syndrome xref: ICD10:H47.2 xref: ICD10:H90.3 xref: OMIM:165199 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:140456 ! Autosomal dominant hereditary axonal motor and sensory neuropathy relationship: part_of Orphanet:254807 ! Multiple mitochondrial DNA deletion syndrome relationship: part_of Orphanet:98672 ! Autosomal dominant optic atrophy property_value: alternative:term "DOA+" xsd:string property_value: alternative:term "Optic atrophy - deafness- polyneuropathy - myopathy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant optic atrophy plus syndrome (DOAplus) is a form of autosomal dominant optic atrophy (ADOA; see this term) associating optic atrophy with other clinical manifestations such sensorineural deafness, myopathy, progressive external ophthalmoplegia, ataxia, peripheral neuropathy, stroke or spastic paraplegia." xsd:string [Term] id: Orphanet:121501 name: ATPase, Na+/K+ transporting, alpha 3 polypeptide xref: ENSEMBL:ENSG00000105409 xref: GENATLAS:ATP1A3 xref: HGNC:801 xref: OMIM:182350 xref: REACTOME:P13637 xref: UNIPROTKB/SWISSPROT:P13637 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2131 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alternating hemiplegia of childhood relationship: Orphanet:317343 Orphanet:71517 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rapid-onset dystonia-parkinsonism property_value: alternative:term "dystonia 12" xsd:string property_value: alternative:term "DYT12" xsd:string property_value: alternative:term "sodium pump subunit alpha-3" xsd:string property_value: alternative:term "sodium-potassium ATPase catalytic subunit alpha-3" xsd:string property_value: alternative:term "sodium/potassium-transporting ATPase subunit alpha-3" xsd:string property_value: symbol "ATP1A3" xsd:string [Term] id: Orphanet:121506 name: eukaryotic translation initiation factor 4H xref: ENSEMBL:ENSG00000106682 xref: GENATLAS:EIF4H xref: HGNC:12741 xref: OMIM:603431 xref: REACTOME:Q15056 xref: UNIPROTKB/SWISSPROT:Q15056 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Williams syndrome property_value: alternative:term "KIAA0038" xsd:string property_value: alternative:term "WBSCR1" xsd:string property_value: alternative:term "Williams-Beuren syndrome chromosome region 1" xsd:string property_value: alternative:term "WSCR1" xsd:string property_value: symbol "EIF4H" xsd:string [Term] id: Orphanet:121511 name: elastase, neutrophil expressed xref: ENSEMBL:ENSG00000197561 xref: GENATLAS:ELANE xref: HGNC:3309 xref: IUPHAR:2358 xref: OMIM:130130 xref: REACTOME:P08246 xref: UNIPROTKB/SWISSPROT:P08246 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2686 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cyclic neutropenia relationship: Orphanet:317343 Orphanet:486 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant severe congenital neutropenia property_value: alternative:term "ELA2" xsd:string property_value: alternative:term "elastase 2, neutrophil" xsd:string property_value: alternative:term "HLE" xsd:string property_value: alternative:term "HNE" xsd:string property_value: alternative:term "leukocyte elastase" xsd:string property_value: alternative:term "medullasin" xsd:string property_value: alternative:term "NE" xsd:string property_value: alternative:term "neutrophil elastase" xsd:string property_value: symbol "ELANE" xsd:string [Term] id: Orphanet:121513 name: elaC ribonuclease Z 2 xref: ENSEMBL:ENSG00000006744 xref: GENATLAS:ELAC2 xref: HGNC:14198 xref: OMIM:605367 xref: UNIPROTKB/SWISSPROT:Q9BQ52 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1331 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial prostate cancer relationship: Orphanet:317343 Orphanet:369913 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined oxidative phosphorylation defect type 17 property_value: alternative:term "elaC (E. coli) homolog 2" xsd:string property_value: alternative:term "ElaC homolog 2 (E. coli)" xsd:string property_value: alternative:term "FLJ10530" xsd:string property_value: alternative:term "HPC2" xsd:string property_value: alternative:term "tRNase Z (long form)" xsd:string property_value: symbol "ELAC2" xsd:string [Term] id: Orphanet:121517 name: elastin xref: ENSEMBL:ENSG00000049540 xref: GENATLAS:ELN xref: HGNC:3327 xref: OMIM:130160 xref: REACTOME:P15502 xref: UNIPROTKB/SWISSPROT:P15502 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3193 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Supravalvular aortic stenosis relationship: Orphanet:317343 Orphanet:90348 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant cutis laxa relationship: Orphanet:317349 Orphanet:904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Williams syndrome property_value: alternative:term "Elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)" xsd:string property_value: alternative:term "supravalvular aortic stenosis" xsd:string property_value: alternative:term "SVAS" xsd:string property_value: alternative:term "tropoelastin" xsd:string property_value: alternative:term "WBS" xsd:string property_value: alternative:term "Williams-Beuren syndrome" xsd:string property_value: alternative:term "WS" xsd:string property_value: symbol "ELN" xsd:string [Term] id: Orphanet:121522 name: ELOVL fatty acid elongase 4 xref: ENSEMBL:ENSG00000118402 xref: GENATLAS:ELOVL4 xref: HGNC:14415 xref: OMIM:605512 xref: REACTOME:Q9GZR5 xref: UNIPROTKB/SWISSPROT:Q9GZR5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352333 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital ichthyosis - intellectual deficit - spastic quadriplegia relationship: Orphanet:317343 Orphanet:827 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Stargardt disease property_value: alternative:term "cancer/testis antigen 118" xsd:string property_value: alternative:term "CT118" xsd:string property_value: alternative:term "Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4" xsd:string property_value: alternative:term "STGD2" xsd:string property_value: alternative:term "STGD3" xsd:string property_value: symbol "ELOVL4" xsd:string [Term] id: Orphanet:121526 name: emerin xref: ENSEMBL:ENSG00000102119 xref: GENATLAS:EMD xref: HGNC:3331 xref: OMIM:300384 xref: REACTOME:P50402 xref: UNIPROTKB/SWISSPROT:P50402 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98863 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked Emery-Dreifuss muscular dystrophy property_value: alternative:term "Emerin (Emery-Dreifuss muscular dystrophy)" xsd:string property_value: alternative:term "Emery-Dreifuss muscular dystrophy" xsd:string property_value: alternative:term "LEM domain containing 5" xsd:string property_value: alternative:term "LEMD5" xsd:string property_value: alternative:term "STA" xsd:string property_value: symbol "EMD" xsd:string [Term] id: Orphanet:121529 name: empty spiracles homeobox 2 xref: ENSEMBL:ENSG00000170370 xref: GENATLAS:EMX2 xref: HGNC:3341 xref: OMIM:600035 xref: UNIPROTKB/SWISSPROT:Q04743 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:799 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Schizencephaly property_value: alternative:term "empty spiracles homolog 2 (Drosophila)" xsd:string property_value: symbol "EMX2" xsd:string [Term] id: Orphanet:121533 name: enamelin xref: ENSEMBL:ENSG00000132464 xref: GENATLAS:ENAM xref: HGNC:3344 xref: OMIM:606585 xref: UNIPROTKB/SWISSPROT:Q9NRM1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100031 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypoplastic amelogenesis imperfecta property_value: alternative:term "AIH2" xsd:string property_value: alternative:term "amelogenesis imperfecta 2, hypocalcification (autosomal dominant)" xsd:string property_value: symbol "ENAM" xsd:string [Term] id: Orphanet:121536 name: endoglin xref: ENSEMBL:ENSG00000106991 xref: GENATLAS:ENG xref: HGNC:3349 xref: OMIM:131195 xref: UNIPROTKB/SWISSPROT:P17813 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:774 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary hemorrhagic telangiectasia relationship: Orphanet:317345 Orphanet:231160 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial cerebral saccular aneurysm relationship: Orphanet:327767 Orphanet:329971 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Generalized juvenile polyposis/juvenile polyposis coli property_value: alternative:term "CD105" xsd:string property_value: alternative:term "END" xsd:string property_value: alternative:term "Endoglin (Osler-Rendu-Weber syndrome 1)" xsd:string property_value: alternative:term "HHT1" xsd:string property_value: alternative:term "ORW" xsd:string property_value: alternative:term "ORW1" xsd:string property_value: alternative:term "Osler-Rendu-Weber syndrome 1" xsd:string property_value: symbol "ENG" xsd:string [Term] id: Orphanet:121551 name: enolase 3 (beta, muscle) xref: ENSEMBL:ENSG00000108515 xref: GENATLAS:ENO3 xref: HGNC:3354 xref: OMIM:131370 xref: REACTOME:P13929 xref: UNIPROTKB/SWISSPROT:P13929 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99849 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to muscle beta-enolase deficiency property_value: alternative:term "enolase 3, (beta, muscle)" xsd:string property_value: symbol "ENO3" xsd:string [Term] id: Orphanet:121553 name: ectonucleotide pyrophosphatase/phosphodiesterase 1 xref: ENSEMBL:ENSG00000197594 xref: GENATLAS:ENPP1 xref: HGNC:3356 xref: OMIM:173335 xref: REACTOME:P22413 xref: UNIPROTKB/SWISSPROT:P22413 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289176 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive hypophosphatemic rickets relationship: Orphanet:317343 Orphanet:324561 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypopigmentation-punctate palmoplantar keratoderma syndrome relationship: Orphanet:317343 Orphanet:51608 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized arterial calcification of infancy property_value: alternative:term "M6S1" xsd:string property_value: alternative:term "NPPS" xsd:string property_value: alternative:term "PC-1" xsd:string property_value: alternative:term "PCA1" xsd:string property_value: alternative:term "PDNP1" xsd:string property_value: symbol "ENPP1" xsd:string [Term] id: Orphanet:121560 name: E1A binding protein p300 xref: ENSEMBL:ENSG00000100393 xref: GENATLAS:EP300 xref: HGNC:3373 xref: OMIM:602700 xref: REACTOME:Q09472 xref: UNIPROTKB/SWISSPROT:Q09472 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:353284 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rubinstein-Taybi syndrome due to EP300 haploinsufficiency property_value: alternative:term "histone acetyltransferase p300" xsd:string property_value: alternative:term "KAT3B" xsd:string property_value: alternative:term "p300" xsd:string property_value: symbol "EP300" xsd:string [Term] id: Orphanet:121563 name: erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) xref: ENSEMBL:ENSG00000159023 xref: GENATLAS:EPB41 xref: HGNC:3377 xref: OMIM:130500 xref: UNIPROTKB/SWISSPROT:P11171 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98864 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Common hereditary elliptocytosis relationship: Orphanet:317343 Orphanet:98865 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Homozygous hereditary elliptocytosis property_value: alternative:term "4.1R" xsd:string property_value: alternative:term "EL1" xsd:string property_value: symbol "EPB41" xsd:string [Term] id: Orphanet:121567 name: EPH receptor B2 xref: ENSEMBL:ENSG00000133216 xref: GENATLAS:EPHB2 xref: HGNC:3393 xref: IUPHAR:1831 xref: OMIM:600997 xref: REACTOME:P29323 xref: UNIPROTKB/SWISSPROT:P29323 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1331 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial prostate cancer property_value: alternative:term "DRT" xsd:string property_value: alternative:term "EphB2" xsd:string property_value: alternative:term "EPHT3" xsd:string property_value: alternative:term "ERK" xsd:string property_value: alternative:term "Hek5" xsd:string property_value: alternative:term "Tyro5" xsd:string property_value: symbol "EPHB2" xsd:string [Term] id: Orphanet:121574 name: epoxide hydrolase 1, microsomal (xenobiotic) xref: ENSEMBL:ENSG00000143819 xref: GENATLAS:EPHX1 xref: HGNC:3401 xref: OMIM:132810 xref: UNIPROTKB/SWISSPROT:P07099 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:238475 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hypercholanemia relationship: Orphanet:317345 Orphanet:1912 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Fetal hydantoin syndrome property_value: alternative:term "EPHX" xsd:string property_value: symbol "EPHX1" xsd:string [Term] id: Orphanet:121577 name: epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) xref: ENSEMBL:ENSG00000112425 xref: GENATLAS:EPM2A xref: HGNC:3413 xref: OMIM:607566 xref: UNIPROTKB/SWISSPROT:O95278 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:501 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lafora disease property_value: alternative:term "epilepsy, progressive myoclonus type 2, Lafora disease (laforin)" xsd:string property_value: alternative:term "LD" xsd:string property_value: alternative:term "LDE" xsd:string property_value: symbol "EPM2A" xsd:string [Term] id: Orphanet:121581 name: erythropoietin receptor xref: ENSEMBL:ENSG00000187266 xref: GENATLAS:EPOR xref: HGNC:3416 xref: IUPHAR:1718 xref: OMIM:133171 xref: UNIPROTKB/SWISSPROT:P19235 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90042 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary familial polycythemia property_value: symbol "EPOR" xsd:string [Term] id: Orphanet:121583 name: ELKS/RAB6-interacting/CAST family member 1 xref: ENSEMBL:ENSG00000082805 xref: GENATLAS:ERC1 xref: HGNC:17072 xref: OMIM:607127 xref: UNIPROTKB/SWISSPROT:Q8IUD2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Papillary or follicular thyroid carcinoma relationship: Orphanet:317349 Orphanet:280325 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Distal monosomy 12p property_value: alternative:term "CAST2" xsd:string property_value: alternative:term "ELKS" xsd:string property_value: alternative:term "KIAA1081" xsd:string property_value: alternative:term "MGC12974" xsd:string property_value: alternative:term "RAB6 interacting protein 2" xsd:string property_value: alternative:term "RAB6IP2" xsd:string property_value: symbol "ERC1" xsd:string [Term] id: Orphanet:121590 name: excision repair cross-complementing rodent repair deficiency, complementation group 2 xref: ENSEMBL:ENSG00000104884 xref: GENATLAS:ERCC2 xref: HGNC:3434 xref: OMIM:126340 xref: REACTOME:P18074 xref: UNIPROTKB/SWISSPROT:P18074 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1466 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! COFS syndrome relationship: Orphanet:317343 Orphanet:276258 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Xeroderma pigmentosum complementation group D relationship: Orphanet:317343 Orphanet:33364 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Trichothiodystrophy property_value: alternative:term "EM9" xsd:string property_value: alternative:term "Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)" xsd:string property_value: alternative:term "excision repair cross-complementing rodent repair deficiency, complementation group 2 protein" xsd:string property_value: alternative:term "MAG" xsd:string property_value: alternative:term "MGC102762" xsd:string property_value: alternative:term "MGC126218" xsd:string property_value: alternative:term "MGC126219" xsd:string property_value: alternative:term "xeroderma pigmentosum complementary group D" xsd:string property_value: alternative:term "XPD" xsd:string property_value: symbol "ERCC2" xsd:string [Term] id: Orphanet:121595 name: excision repair cross-complementing rodent repair deficiency, complementation group 4 xref: ENSEMBL:ENSG00000175595 xref: GENATLAS:ERCC4 xref: HGNC:3436 xref: OMIM:133520 xref: REACTOME:Q92889 xref: UNIPROTKB/SWISSPROT:Q92889 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:276264 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Xeroderma pigmentosum complementation group F relationship: Orphanet:317343 Orphanet:84 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fanconi anemia relationship: Orphanet:317343 Orphanet:90321 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cockayne syndrome type 1 property_value: alternative:term "FANCQ" xsd:string property_value: alternative:term "RAD1" xsd:string property_value: alternative:term "xeroderma pigmentosum, complementation group F" xsd:string property_value: alternative:term "XPF" xsd:string property_value: symbol "ERCC4" xsd:string [Term] id: Orphanet:121599 name: excision repair cross-complementing rodent repair deficiency, complementation group 6 xref: ENSEMBL:ENSG00000225830 xref: GENATLAS:ERCC6 xref: HGNC:3438 xref: OMIM:609413 xref: REACTOME:Q03468 xref: UNIPROTKB/SWISSPROT:Q03468 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1466 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! COFS syndrome relationship: Orphanet:317343 Orphanet:178338 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! UV-sensitive syndrome relationship: Orphanet:317343 Orphanet:90321 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cockayne syndrome type 1 relationship: Orphanet:317343 Orphanet:90322 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cockayne syndrome type 2 relationship: Orphanet:317343 Orphanet:90324 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cockayne syndrome type 3 property_value: alternative:term "ARMD5" xsd:string property_value: alternative:term "CKN2" xsd:string property_value: alternative:term "Cockayne syndrome B protein" xsd:string property_value: alternative:term "CSB" xsd:string property_value: alternative:term "RAD26" xsd:string property_value: symbol "ERCC6" xsd:string [Term] id: Orphanet:1216 name: Autosomal dominant congenital benign spinal muscular atrophy xref: ICD10:G12.2 xref: OMIM:600175 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:140465 ! Autosomal dominant distal hereditary motor neuropathy property_value: alternative:term "Autosomal dominant benign distal spinal muscular atrophy" xsd:string property_value: alternative:term "Congenital benign spinal muscular atrophy with contractures" xsd:string property_value: alternative:term "Congenital nonprogressive spinal muscular atrophy" xsd:string [Term] id: Orphanet:121604 name: excision repair cross-complementing rodent repair deficiency, complementation group 8 xref: ENSEMBL:ENSG00000049167 xref: GENATLAS:ERCC8 xref: HGNC:3439 xref: OMIM:609412 xref: REACTOME:Q13216 xref: UNIPROTKB/SWISSPROT:Q13216 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178338 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! UV-sensitive syndrome relationship: Orphanet:317343 Orphanet:90321 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cockayne syndrome type 1 relationship: Orphanet:317343 Orphanet:90322 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cockayne syndrome type 2 relationship: Orphanet:317343 Orphanet:90324 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cockayne syndrome type 3 property_value: alternative:term "CKN1" xsd:string property_value: alternative:term "Cockayne syndrome 1 (classical)" xsd:string property_value: alternative:term "CSA" xsd:string property_value: symbol "ERCC8" xsd:string [Term] id: Orphanet:121608 name: v-ets avian erythroblastosis virus E26 oncogene homolog xref: ENSEMBL:ENSG00000157554 xref: GENATLAS:ERG xref: HGNC:3446 xref: OMIM:165080 xref: UNIPROTKB/SWISSPROT:P11308 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:319 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ewing sarcoma relationship: Orphanet:317348 Orphanet:370334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Extraskeletal Ewing sarcoma relationship: Orphanet:317348 Orphanet:370348 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Peripheral primitive neuroectodermal tumor property_value: alternative:term "erg-3" xsd:string property_value: alternative:term "p55" xsd:string property_value: alternative:term "TMPRSS2-ERG prostate cancer specific" xsd:string property_value: alternative:term "transcriptional regulator ERG (transforming protein ERG)" xsd:string property_value: alternative:term "v-ets avian erythroblastosis virus E26 oncogene related" xsd:string property_value: alternative:term "V-ets erythroblastosis virus E26 oncogene homolog (avian)" xsd:string property_value: alternative:term "v-ets erythroblastosis virus E26 oncogene like" xsd:string property_value: symbol "ERG" xsd:string [Term] id: Orphanet:121610 name: establishment of sister chromatid cohesion N-acetyltransferase 2 xref: ENSEMBL:ENSG00000171320 xref: GENATLAS:ESCO2 xref: HGNC:27230 xref: OMIM:609353 xref: REACTOME:Q56NI9 xref: UNIPROTKB/SWISSPROT:Q56NI9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3103 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Roberts syndrome property_value: alternative:term "EFO2" xsd:string property_value: alternative:term "Establishment of cohesion 1 homolog 2 (S. cerevisiae)" xsd:string property_value: alternative:term "RBS" xsd:string property_value: alternative:term "Roberts syndrome" xsd:string property_value: symbol "ESCO2" xsd:string [Term] id: Orphanet:121619 name: electron-transfer-flavoprotein, alpha polypeptide xref: ENSEMBL:ENSG00000140374 xref: GENATLAS:ETFA xref: HGNC:3481 xref: OMIM:608053 xref: REACTOME:P13804 xref: UNIPROTKB/SWISSPROT:P13804 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:26791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glutaric acidemia type 2 property_value: alternative:term "Electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II)" xsd:string property_value: alternative:term "EMA" xsd:string property_value: alternative:term "GA2" xsd:string property_value: alternative:term "glutaric aciduria II" xsd:string property_value: alternative:term "MADD" xsd:string property_value: symbol "ETFA" xsd:string [Term] id: Orphanet:121624 name: electron-transfer-flavoprotein, beta polypeptide xref: ENSEMBL:ENSG00000105379 xref: GENATLAS:ETFB xref: HGNC:3482 xref: OMIM:130410 xref: REACTOME:P38117 xref: UNIPROTKB/SWISSPROT:P38117 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:26791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glutaric acidemia type 2 property_value: symbol "ETFB" xsd:string [Term] id: Orphanet:121626 name: electron-transferring-flavoprotein dehydrogenase xref: ENSEMBL:ENSG00000171503 xref: GENATLAS:ETFDH xref: HGNC:3483 xref: OMIM:231675 xref: REACTOME:Q16134 xref: UNIPROTKB/SWISSPROT:Q16134 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:26791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glutaric acidemia type 2 property_value: alternative:term "ETFQO" xsd:string property_value: symbol "ETFDH" xsd:string [Term] id: Orphanet:121629 name: ethylmalonic encephalopathy 1 xref: ENSEMBL:ENSG00000105755 xref: GENATLAS:ETHE1 xref: HGNC:23287 xref: OMIM:608451 xref: REACTOME:O95571 xref: UNIPROTKB/SWISSPROT:O95571 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:51188 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ethylmalonic encephalopathy property_value: alternative:term "HSCO" xsd:string property_value: alternative:term "YF13H12" xsd:string property_value: symbol "ETHE1" xsd:string [Term] id: Orphanet:121633 name: ets variant 1 xref: ENSEMBL:ENSG00000006468 xref: GENATLAS:ETV1 xref: HGNC:3490 xref: OMIM:600541 xref: UNIPROTKB/SWISSPROT:P50549 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:319 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ewing sarcoma property_value: alternative:term "ER81" xsd:string property_value: alternative:term "Ets variant gene 1" xsd:string property_value: symbol "ETV1" xsd:string [Term] id: Orphanet:121636 name: Ellis van Creveld syndrome xref: ENSEMBL:ENSG00000072840 xref: GENATLAS:EVC xref: HGNC:3497 xref: OMIM:604831 xref: UNIPROTKB/SWISSPROT:P57679 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ellis Van Creveld syndrome relationship: Orphanet:317343 Orphanet:952 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acrofacial dysostosis, Weyers type property_value: alternative:term "DWF-1" xsd:string property_value: symbol "EVC" xsd:string [Term] id: Orphanet:121639 name: Ellis van Creveld syndrome 2 xref: ENSEMBL:ENSG00000173040 xref: GENATLAS:EVC2 xref: HGNC:19747 xref: OMIM:607261 xref: UNIPROTKB/SWISSPROT:Q86UK5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ellis Van Creveld syndrome relationship: Orphanet:317343 Orphanet:952 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acrofacial dysostosis, Weyers type property_value: alternative:term "Ellis van Creveld syndrome 2 (limbin)" xsd:string property_value: alternative:term "LBN" xsd:string property_value: symbol "EVC2" xsd:string [Term] id: Orphanet:121642 name: EWS RNA-binding protein 1 xref: ENSEMBL:ENSG00000182944 xref: GENATLAS:EWSR1 xref: HGNC:3508 xref: OMIM:133450 xref: UNIPROTKB/SWISSPROT:Q01844 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:209916 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Extraskeletal myxoid chondrosarcoma relationship: Orphanet:317348 Orphanet:319 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ewing sarcoma relationship: Orphanet:317348 Orphanet:370334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Extraskeletal Ewing sarcoma relationship: Orphanet:317348 Orphanet:83469 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Desmoplastic small round cell tumor relationship: Orphanet:317348 Orphanet:97338 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Melanoma of soft part property_value: alternative:term "Ewing sarcoma breakpoint region 1" xsd:string property_value: alternative:term "EWS" xsd:string property_value: symbol "EWSR1" xsd:string [Term] id: Orphanet:121645 name: exostosin glycosyltransferase 1 xref: ENSEMBL:ENSG00000182197 xref: GENATLAS:EXT1 xref: HGNC:3512 xref: OMIM:608177 xref: REACTOME:Q16394 xref: UNIPROTKB/SWISSPROT:Q16394 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:321 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple osteochondromas relationship: Orphanet:317344 Orphanet:55880 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Chondrosarcoma relationship: Orphanet:317349 Orphanet:502 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Langer-Giedion syndrome property_value: alternative:term "Exostoses (multiple) 1" xsd:string property_value: alternative:term "exostosin 1" xsd:string property_value: alternative:term "Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase" xsd:string property_value: alternative:term "Langer-Giedion syndrome chromosome region" xsd:string property_value: alternative:term "LGCR" xsd:string property_value: alternative:term "LGS" xsd:string property_value: alternative:term "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase" xsd:string property_value: alternative:term "ttv" xsd:string property_value: symbol "EXT1" xsd:string [Term] id: Orphanet:121648 name: exostosin glycosyltransferase 2 xref: ENSEMBL:ENSG00000151348 xref: GENATLAS:EXT2 xref: HGNC:3513 xref: OMIM:608210 xref: REACTOME:Q93063 xref: UNIPROTKB/SWISSPROT:Q93063 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:321 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple osteochondromas relationship: Orphanet:317349 Orphanet:52022 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Potocki-Shaffer syndrome property_value: alternative:term "Exostoses (multiple) 2" xsd:string property_value: alternative:term "exostosin 2" xsd:string property_value: alternative:term "Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase" xsd:string property_value: alternative:term "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase" xsd:string property_value: alternative:term "SOTV" xsd:string property_value: symbol "EXT2" xsd:string [Term] id: Orphanet:121651 name: eyes absent homolog 1 (Drosophila) xref: ENSEMBL:ENSG00000104313 xref: GENATLAS:EYA1 xref: HGNC:3519 xref: OMIM:601653 xref: UNIPROTKB/SWISSPROT:Q99502 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:107 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! BOR syndrome relationship: Orphanet:317343 Orphanet:2792 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Otofaciocervical syndrome relationship: Orphanet:317343 Orphanet:52429 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Branchio-otic syndrome property_value: alternative:term "BOR" xsd:string property_value: alternative:term "eyes absent (Drosophila) homolog 1" xsd:string property_value: symbol "EYA1" xsd:string [Term] id: Orphanet:121654 name: eyes absent homolog 4 (Drosophila) xref: ENSEMBL:ENSG00000112319 xref: GENATLAS:EYA4 xref: HGNC:3522 xref: OMIM:603550 xref: UNIPROTKB/SWISSPROT:O95677 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:217622 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sensorineural deafness with dilated cardiomyopathy relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA property_value: alternative:term "CMD1J" xsd:string property_value: alternative:term "DFNA10" xsd:string property_value: alternative:term "eyes absent (Drosophila) homolog 4" xsd:string property_value: symbol "EYA4" xsd:string [Term] id: Orphanet:121658 name: coagulation factor X xref: ENSEMBL:ENSG00000126218 xref: GENATLAS:F10 xref: HGNC:3528 xref: IUPHAR:2359 xref: OMIM:613872 xref: REACTOME:P00742 xref: UNIPROTKB/SWISSPROT:P00742 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:328 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital factor X deficiency property_value: symbol "F10" xsd:string [Term] id: Orphanet:121660 name: coagulation factor XI xref: ENSEMBL:ENSG00000088926 xref: GENATLAS:F11 xref: HGNC:3529 xref: IUPHAR:2360 xref: OMIM:264900 xref: REACTOME:P03951 xref: UNIPROTKB/SWISSPROT:P03951 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:329 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital factor XI deficiency property_value: alternative:term "Coagulation factor XI (plasma thromboplastin antecedent)" xsd:string property_value: alternative:term "FXI" xsd:string property_value: alternative:term "plasma thromboplastin antecedent" xsd:string property_value: symbol "F11" xsd:string [Term] id: Orphanet:121663 name: coagulation factor XII (Hageman factor) xref: ENSEMBL:ENSG00000131187 xref: GENATLAS:F12 xref: HGNC:3530 xref: IUPHAR:2361 xref: OMIM:610619 xref: REACTOME:P00748 xref: UNIPROTKB/SWISSPROT:P00748 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100054 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary angioedema type 3 relationship: Orphanet:317343 Orphanet:330 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital factor XII deficiency property_value: symbol "F12" xsd:string [Term] id: Orphanet:121665 name: coagulation factor XIII, A1 polypeptide xref: ENSEMBL:ENSG00000124491 xref: GENATLAS:F13A1 xref: HGNC:3531 xref: OMIM:134570 xref: REACTOME:P00488 xref: UNIPROTKB/SWISSPROT:P00488 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:331 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital factor XIII deficiency property_value: alternative:term "F13A" xsd:string property_value: symbol "F13A1" xsd:string [Term] id: Orphanet:121668 name: coagulation factor XIII, B polypeptide xref: ENSEMBL:ENSG00000143278 xref: GENATLAS:F13B xref: HGNC:3534 xref: OMIM:134580 xref: REACTOME:P05160 xref: UNIPROTKB/SWISSPROT:P05160 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:331 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital factor XIII deficiency property_value: alternative:term "FXIIIB" xsd:string property_value: symbol "F13B" xsd:string [Term] id: Orphanet:121671 name: coagulation factor II (thrombin) xref: ENSEMBL:ENSG00000180210 xref: GENATLAS:F2 xref: HGNC:3535 xref: IUPHAR:2362 xref: OMIM:176930 xref: REACTOME:P00734 xref: UNIPROTKB/SWISSPROT:P00734 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:325 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital factor II deficiency property_value: alternative:term "prepro-coagulation factor II" xsd:string property_value: symbol "F2" xsd:string [Term] id: Orphanet:121673 name: coagulation factor V (proaccelerin, labile factor) xref: ENSEMBL:ENSG00000198734 xref: GENATLAS:F5 xref: HGNC:3542 xref: IUPHAR:2606 xref: OMIM:612309 xref: REACTOME:P12259 xref: UNIPROTKB/SWISSPROT:P12259 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:326 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital factor V deficiency relationship: Orphanet:317345 Orphanet:131 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Budd-Chiari syndrome property_value: symbol "F5" xsd:string [Term] id: Orphanet:121675 name: coagulation factor VII (serum prothrombin conversion accelerator) xref: ENSEMBL:ENSG00000057593 xref: GENATLAS:F7 xref: HGNC:3544 xref: IUPHAR:2363 xref: OMIM:613878 xref: REACTOME:P08709 xref: UNIPROTKB/SWISSPROT:P08709 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:327 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital factor VII deficiency property_value: alternative:term "eptacog alfa" xsd:string property_value: alternative:term "factor VII" xsd:string property_value: alternative:term "FVII coagulation protein" xsd:string property_value: symbol "F7" xsd:string [Term] id: Orphanet:121677 name: coagulation factor VIII, procoagulant component xref: ENSEMBL:ENSG00000185010 xref: GENATLAS:F8 xref: HGNC:3546 xref: IUPHAR:2607 xref: OMIM:300841 xref: REACTOME:P00451 xref: UNIPROTKB/SWISSPROT:P00451 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169802 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe hemophilia A relationship: Orphanet:317343 Orphanet:169805 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Moderately severe hemophilia A relationship: Orphanet:317343 Orphanet:169808 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mild hemophilia A relationship: Orphanet:317343 Orphanet:177926 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Symptomatic form of hemophilia A in female carriers property_value: alternative:term "Coagulation factor VIII, procoagulant component (hemophilia A)" xsd:string property_value: alternative:term "DXS1253E" xsd:string property_value: alternative:term "F8C" xsd:string property_value: alternative:term "Factor VIIIF8B" xsd:string property_value: alternative:term "FVIII" xsd:string property_value: alternative:term "HEMA" xsd:string property_value: alternative:term "hemophilia A" xsd:string property_value: symbol "F8" xsd:string [Term] id: Orphanet:121683 name: coagulation factor IX xref: ENSEMBL:ENSG00000101981 xref: GENATLAS:F9 xref: HGNC:3551 xref: IUPHAR:2364 xref: OMIM:300746 xref: REACTOME:P00740 xref: UNIPROTKB/SWISSPROT:P00740 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169793 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe hemophilia B relationship: Orphanet:317343 Orphanet:169796 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Moderately severe hemophilia B relationship: Orphanet:317343 Orphanet:169799 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mild hemophilia B relationship: Orphanet:317343 Orphanet:177929 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Symptomatic form of hemophilia B in female carriers property_value: alternative:term "Christmas disease" xsd:string property_value: alternative:term "Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)" xsd:string property_value: alternative:term "Factor IX" xsd:string property_value: alternative:term "FIX" xsd:string property_value: alternative:term "hemophilia B" xsd:string property_value: alternative:term "plasma thromboplastic component" xsd:string property_value: symbol "F9" xsd:string [Term] id: Orphanet:121686 name: fumarylacetoacetate hydrolase (fumarylacetoacetase) xref: ENSEMBL:ENSG00000103876 xref: GENATLAS:FAH xref: HGNC:3579 xref: OMIM:613871 xref: REACTOME:P16930 xref: UNIPROTKB/SWISSPROT:P16930 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:882 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tyrosinemia type 1 property_value: symbol "FAH" xsd:string [Term] id: Orphanet:121688 name: family with sequence similarity 126, member A xref: ENSEMBL:ENSG00000122591 xref: GENATLAS:FAM126A xref: HGNC:24587 xref: OMIM:610531 xref: UNIPROTKB/SWISSPROT:Q9BYI3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:85163 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypomyelination - congenital cataract property_value: alternative:term "down regulated by Ctnnb1, a" xsd:string property_value: alternative:term "DRCTNNB1A" xsd:string property_value: alternative:term "HCC" xsd:string property_value: alternative:term "HYCC1" xsd:string property_value: alternative:term "hyccin" xsd:string property_value: symbol "FAM126A" xsd:string [Term] id: Orphanet:121693 name: Fanconi anemia, complementation group A xref: ENSEMBL:ENSG00000187741 xref: GENATLAS:FANCA xref: HGNC:3582 xref: OMIM:607139 xref: REACTOME:O15360 xref: UNIPROTKB/SWISSPROT:O15360 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:84 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fanconi anemia property_value: alternative:term "FA-H" xsd:string property_value: alternative:term "FAA" xsd:string property_value: alternative:term "FACA" xsd:string property_value: alternative:term "FAH" xsd:string property_value: alternative:term "FANCH" xsd:string property_value: symbol "FANCA" xsd:string [Term] id: Orphanet:1217 name: Spinal atrophy - ophthalmoplegia - pyramidal syndrome xref: ICD10:G12.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:206710 ! Generalized bulbospinal muscular atrophy property_value: alternative:term "Hamano-Tsukamoto syndrome" xsd:string [Term] id: Orphanet:121700 name: Fanconi anemia, complementation group B xref: ENSEMBL:ENSG00000181544 xref: GENATLAS:FANCB xref: HGNC:3583 xref: OMIM:300515 xref: REACTOME:Q8NB91 xref: UNIPROTKB/SWISSPROT:Q8NB91 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3412 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! VACTERL with hydrocephalus relationship: Orphanet:317343 Orphanet:84 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fanconi anemia property_value: alternative:term "FAAP95" xsd:string property_value: alternative:term "FAB" xsd:string property_value: alternative:term "FLJ34064" xsd:string property_value: symbol "FANCB" xsd:string [Term] id: Orphanet:121705 name: Fanconi anemia, complementation group C xref: ENSEMBL:ENSG00000158169 xref: GENATLAS:FANCC xref: HGNC:3584 xref: OMIM:613899 xref: REACTOME:Q00597 xref: UNIPROTKB/SWISSPROT:Q00597 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:84 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fanconi anemia property_value: alternative:term "FA3" xsd:string property_value: alternative:term "FAC" xsd:string property_value: alternative:term "FACC" xsd:string property_value: symbol "FANCC" xsd:string [Term] id: Orphanet:121709 name: Fanconi anemia, complementation group D2 xref: ENSEMBL:ENSG00000144554 xref: GENATLAS:FANCD2 xref: HGNC:3585 xref: OMIM:613984 xref: REACTOME:Q9BXW9 xref: UNIPROTKB/SWISSPROT:Q9BXW9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:84 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fanconi anemia property_value: alternative:term "FA-D2" xsd:string property_value: alternative:term "FACD" xsd:string property_value: alternative:term "FAD" xsd:string property_value: alternative:term "FANCD" xsd:string property_value: symbol "FANCD2" xsd:string [Term] id: Orphanet:121715 name: Fanconi anemia, complementation group E xref: ENSEMBL:ENSG00000112039 xref: GENATLAS:FANCE xref: HGNC:3586 xref: OMIM:613976 xref: REACTOME:Q9HB96 xref: UNIPROTKB/SWISSPROT:Q9HB96 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:84 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fanconi anemia property_value: alternative:term "FACE" xsd:string property_value: alternative:term "FAE" xsd:string property_value: symbol "FANCE" xsd:string [Term] id: Orphanet:121719 name: Fanconi anemia, complementation group F xref: ENSEMBL:ENSG00000183161 xref: GENATLAS:FANCF xref: HGNC:3587 xref: OMIM:613897 xref: REACTOME:Q9NPI8 xref: UNIPROTKB/SWISSPROT:Q9NPI8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:84 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fanconi anemia property_value: alternative:term "FAF" xsd:string property_value: symbol "FANCF" xsd:string [Term] id: Orphanet:121722 name: Fanconi anemia, complementation group G xref: ENSEMBL:ENSG00000221829 xref: GENATLAS:FANCG xref: HGNC:3588 xref: OMIM:602956 xref: REACTOME:O15287 xref: UNIPROTKB/SWISSPROT:O15287 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:84 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fanconi anemia property_value: alternative:term "DNA repair protein XRCC9" xsd:string property_value: alternative:term "FAG" xsd:string property_value: alternative:term "X-ray repair complementing defective repair in Chinese hamster cells 9" xsd:string property_value: alternative:term "X-ray repair, complementing defective, in Chinese hamster, 9" xsd:string property_value: alternative:term "XRCC9" xsd:string property_value: symbol "FANCG" xsd:string [Term] id: Orphanet:121726 name: Fanconi anemia, complementation group L xref: ENSEMBL:ENSG00000115392 xref: GENATLAS:FANCL xref: HGNC:20748 xref: OMIM:608111 xref: REACTOME:Q9NW38 xref: UNIPROTKB/SWISSPROT:Q9NW38 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:84 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fanconi anemia property_value: alternative:term "FAAP43" xsd:string property_value: alternative:term "FLJ10335" xsd:string property_value: alternative:term "PHD finger protein 9" xsd:string property_value: alternative:term "PHF9" xsd:string property_value: alternative:term "Pog" xsd:string property_value: symbol "FANCL" xsd:string [Term] id: Orphanet:121730 name: Fanconi anemia, complementation group M xref: ENSEMBL:ENSG00000187790 xref: GENATLAS:FANCM xref: HGNC:23168 xref: OMIM:609644 xref: REACTOME:Q8IYD8 xref: UNIPROTKB/SWISSPROT:Q8IYD8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:84 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fanconi anemia property_value: alternative:term "FAAP250" xsd:string property_value: alternative:term "KIAA1596" xsd:string property_value: symbol "FANCM" xsd:string [Term] id: Orphanet:121733 name: Fas cell surface death receptor xref: ENSEMBL:ENSG00000026103 xref: GENATLAS:FAS xref: HGNC:11920 xref: OMIM:134637 xref: REACTOME:P25445 xref: UNIPROTKB/SWISSPROT:P25445 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3261 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autoimmune lymphoproliferative syndrome relationship: Orphanet:317344 Orphanet:3261 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autoimmune lymphoproliferative syndrome relationship: Orphanet:317345 Orphanet:85408 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Juvenile rheumatoid factor-negative polyarthritis relationship: Orphanet:317345 Orphanet:85410 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Oligoarticular juvenile arthritis property_value: alternative:term "APO-1" xsd:string property_value: alternative:term "APT1" xsd:string property_value: alternative:term "CD95" xsd:string property_value: alternative:term "Fas (TNF receptor superfamily, member 6)" xsd:string property_value: alternative:term "FAS1" xsd:string property_value: alternative:term "TNF receptor superfamily member 6" xsd:string property_value: alternative:term "TNFRSF6" xsd:string property_value: alternative:term "tumor necrosis factor receptor superfamily, member 6" xsd:string property_value: symbol "FAS" xsd:string [Term] id: Orphanet:121740 name: Fas ligand (TNF superfamily, member 6) xref: ENSEMBL:ENSG00000117560 xref: GENATLAS:FASLG xref: HGNC:11936 xref: OMIM:134638 xref: REACTOME:P48023 xref: UNIPROTKB/SWISSPROT:P48023 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3261 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autoimmune lymphoproliferative syndrome property_value: alternative:term "APT1LG1" xsd:string property_value: alternative:term "CD178" xsd:string property_value: alternative:term "FasL" xsd:string property_value: alternative:term "TNFSF6" xsd:string property_value: alternative:term "tumor necrosis factor (ligand) superfamily, member 6" xsd:string property_value: symbol "FASLG" xsd:string [Term] id: Orphanet:121746 name: fibulin 5 xref: ENSEMBL:ENSG00000140092 xref: GENATLAS:FBLN5 xref: HGNC:3602 xref: OMIM:604580 xref: REACTOME:Q9UBX5 xref: UNIPROTKB/SWISSPROT:Q9UBX5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280598 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary sensorimotor neuropathy with hyperelastic skin relationship: Orphanet:317343 Orphanet:90348 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant cutis laxa relationship: Orphanet:317343 Orphanet:90349 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive cutis laxa type 1 property_value: alternative:term "ARMD3" xsd:string property_value: alternative:term "DANCE" xsd:string property_value: alternative:term "EVEC" xsd:string property_value: alternative:term "UP50" xsd:string property_value: symbol "FBLN5" xsd:string [Term] id: Orphanet:121752 name: fibrillin 1 xref: ENSEMBL:ENSG00000166147 xref: GENATLAS:FBN1 xref: HGNC:3603 xref: OMIM:134797 xref: REACTOME:P35555 xref: UNIPROTKB/SWISSPROT:P35555 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1885 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated ectopia lentis relationship: Orphanet:317343 Orphanet:2084 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glaucoma - ectopia - microspherophakia - stiff joints - short stature relationship: Orphanet:317343 Orphanet:2623 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Geleophysic dysplasia relationship: Orphanet:317343 Orphanet:2833 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Stiff skin syndrome relationship: Orphanet:317343 Orphanet:284963 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Marfan syndrome type 1 relationship: Orphanet:317343 Orphanet:284979 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal Marfan syndrome relationship: Orphanet:317343 Orphanet:300382 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progeroid and marfanoid aspect-lipodystrophy syndrome relationship: Orphanet:317343 Orphanet:3449 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Weill-Marchesani syndrome relationship: Orphanet:317343 Orphanet:91387 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial thoracic aortic aneurysm and aortic dissection relationship: Orphanet:317343 Orphanet:969 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acromicric dysplasia relationship: Orphanet:317345 Orphanet:2462 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Shprintzen-Goldberg syndrome property_value: alternative:term "FBN" xsd:string property_value: alternative:term "fibrillin 1 (Marfan syndrome)" xsd:string property_value: alternative:term "Marfan syndrome" xsd:string property_value: alternative:term "MASS" xsd:string property_value: alternative:term "MFS1" xsd:string property_value: alternative:term "OCTD" xsd:string property_value: alternative:term "SGS" xsd:string property_value: alternative:term "WMS" xsd:string property_value: symbol "FBN1" xsd:string [Term] id: Orphanet:121760 name: fibrillin 2 xref: ENSEMBL:ENSG00000138829 xref: GENATLAS:FBN2 xref: HGNC:3604 xref: OMIM:612570 xref: REACTOME:P35556 xref: UNIPROTKB/SWISSPROT:P35556 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:115 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital contractural arachnodactyly property_value: alternative:term "CCA" xsd:string property_value: alternative:term "congenital contractural arachnodactyly" xsd:string property_value: alternative:term "DA9" xsd:string property_value: alternative:term "Fibrillin 2 (congenital contractural arachnodactyly)" xsd:string property_value: alternative:term "fibrillin 5" xsd:string property_value: symbol "FBN2" xsd:string [Term] id: Orphanet:121763 name: fructose-1,6-bisphosphatase 1 xref: ENSEMBL:ENSG00000165140 xref: GENATLAS:FBP1 xref: HGNC:3606 xref: OMIM:611570 xref: REACTOME:P09467 xref: UNIPROTKB/SWISSPROT:P09467 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:348 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fructose-1,6-bisphosphatase deficiency property_value: alternative:term "FBP" xsd:string property_value: symbol "FBP1" xsd:string [Term] id: Orphanet:121770 name: F-box and WD repeat domain containing 4 xref: ENSEMBL:ENSG00000107829 xref: GENATLAS:FBXW4 xref: HGNC:10847 xref: OMIM:608071 xref: REACTOME:P57775 xref: UNIPROTKB/SWISSPROT:P57775 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:2440 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Split hand-split foot malformation property_value: alternative:term "dactylin" xsd:string property_value: alternative:term "F-box and WD-40 domain protein 4" xsd:string property_value: alternative:term "Fbw4" xsd:string property_value: alternative:term "SHFM3" xsd:string property_value: alternative:term "split hand/foot malformation (ectrodactyly) type 3" xsd:string property_value: symbol "FBXW4" xsd:string [Term] id: Orphanet:121775 name: fukutin xref: ENSEMBL:ENSG00000106692 xref: GENATLAS:FKTN xref: HGNC:3622 xref: OMIM:607440 xref: UNIPROTKB/SWISSPROT:O75072 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317343 Orphanet:206554 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive limb-girdle muscular dystrophy type 2M relationship: Orphanet:317343 Orphanet:370980 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital muscular dystrophy without intellectual disability relationship: Orphanet:317343 Orphanet:588 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Muscle-eye-brain disease relationship: Orphanet:317343 Orphanet:899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Walker-Warburg syndrome property_value: alternative:term "FCMD" xsd:string property_value: alternative:term "Fukuyama type congenital muscular dystrophy (fukutin)" xsd:string property_value: alternative:term "LGMD2M" xsd:string property_value: symbol "FKTN" xsd:string [Term] id: Orphanet:121784 name: ferrochelatase xref: ENSEMBL:ENSG00000066926 xref: GENATLAS:FECH xref: HGNC:3647 xref: OMIM:612386 xref: REACTOME:P22830 xref: UNIPROTKB/SWISSPROT:P22830 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79278 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Erythropoietic protoporphyria property_value: alternative:term "Ferrochelatase (protoporphyria)" xsd:string property_value: alternative:term "protoporphyria" xsd:string property_value: symbol "FECH" xsd:string [Term] id: Orphanet:121786 name: fibrinogen alpha chain xref: ENSEMBL:ENSG00000171560 xref: GENATLAS:FGA xref: HGNC:3661 xref: OMIM:134820 xref: REACTOME:P02671 xref: UNIPROTKB/SWISSPROT:P02671 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101041 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hypofibrinogenemia relationship: Orphanet:317343 Orphanet:248408 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hypodysfibrinogenemia relationship: Orphanet:317343 Orphanet:93562 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial renal amyloidosis due to fibrinogen A alpha-chain variant relationship: Orphanet:317343 Orphanet:98880 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial afibrinogenemia relationship: Orphanet:317343 Orphanet:98881 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial dysfibrinogenemia property_value: alternative:term "fibrinogen, A alpha polypeptide" xsd:string property_value: symbol "FGA" xsd:string [Term] id: Orphanet:121788 name: fibrinogen beta chain xref: ENSEMBL:ENSG00000171564 xref: GENATLAS:FGB xref: HGNC:3662 xref: OMIM:134830 xref: REACTOME:P02675 xref: UNIPROTKB/SWISSPROT:P02675 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101041 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hypofibrinogenemia relationship: Orphanet:317343 Orphanet:248408 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hypodysfibrinogenemia relationship: Orphanet:317343 Orphanet:98880 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial afibrinogenemia relationship: Orphanet:317343 Orphanet:98881 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial dysfibrinogenemia property_value: alternative:term "fibrinogen, B beta polypeptide" xsd:string property_value: symbol "FGB" xsd:string [Term] id: Orphanet:121790 name: FYVE, RhoGEF and PH domain containing 1 xref: ENSEMBL:ENSG00000102302 xref: GENATLAS:FGD1 xref: HGNC:3663 xref: OMIM:300546 xref: REACTOME:P98174 xref: UNIPROTKB/SWISSPROT:P98174 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:915 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Aarskog-Scott syndrome property_value: alternative:term "faciogenital dysplasia (Aarskog-Scott syndrome)" xsd:string property_value: alternative:term "FGDY" xsd:string property_value: alternative:term "FYVE, RhoGEF and PH domain containing 1 (faciogenital dysplasia)" xsd:string property_value: alternative:term "ZFYVE3" xsd:string property_value: symbol "FGD1" xsd:string [Term] id: Orphanet:121794 name: fibroblast growth factor 10 xref: ENSEMBL:ENSG00000070193 xref: GENATLAS:FGF10 xref: HGNC:3666 xref: OMIM:602115 xref: REACTOME:O15520 xref: UNIPROTKB/SWISSPROT:O15520 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2363 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lacrimo-auriculo-dento-digital syndrome relationship: Orphanet:317343 Orphanet:86815 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Aplasia of lacrimal and salivary glands property_value: symbol "FGF10" xsd:string [Term] id: Orphanet:121796 name: fibroblast growth factor 14 xref: ENSEMBL:ENSG00000102466 xref: GENATLAS:FGF14 xref: HGNC:3671 xref: OMIM:601515 xref: UNIPROTKB/SWISSPROT:Q92915 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98764 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 27 property_value: alternative:term "FHF4" xsd:string property_value: alternative:term "SCA27" xsd:string property_value: symbol "FGF14" xsd:string [Term] id: Orphanet:121800 name: fibroblast growth factor 23 xref: ENSEMBL:ENSG00000118972 xref: GENATLAS:FGF23 xref: HGNC:3680 xref: OMIM:605380 xref: REACTOME:Q9GZV9 xref: UNIPROTKB/SWISSPROT:Q9GZV9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:306661 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypercalcemic tumoral calcinosis relationship: Orphanet:317343 Orphanet:89937 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant hypophosphatemic rickets property_value: symbol "FGF23" xsd:string [Term] id: Orphanet:121802 name: fibroblast growth factor receptor 1 xref: ENSEMBL:ENSG00000077782 xref: GENATLAS:FGFR1 xref: HGNC:3688 xref: IUPHAR:1808 xref: OMIM:136350 xref: REACTOME:P11362 xref: UNIPROTKB/SWISSPROT:P11362 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2117 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hartsfield-Bixler-Demyer syndrome relationship: Orphanet:317343 Orphanet:2645 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteoglophonic dwarfism relationship: Orphanet:317343 Orphanet:3157 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Septo-optic dysplasia relationship: Orphanet:317343 Orphanet:3366 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated trigonocephaly relationship: Orphanet:317343 Orphanet:432 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Normosmic congenital hypogonadotropic hypogonadism relationship: Orphanet:317343 Orphanet:478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kallmann syndrome relationship: Orphanet:317343 Orphanet:93258 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pfeiffer syndrome type 1 relationship: Orphanet:317343 Orphanet:99798 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oligodontia relationship: Orphanet:317344 Orphanet:251612 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pilocytic astrocytoma relationship: Orphanet:317348 Orphanet:168953 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myeloid neoplasm associated with FGFR1 rearrangement relationship: Orphanet:317348 Orphanet:251576 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gliosarcoma relationship: Orphanet:317348 Orphanet:251579 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Giant cell glioblastoma property_value: alternative:term "BFGFR" xsd:string property_value: alternative:term "CD331" xsd:string property_value: alternative:term "CEK" xsd:string property_value: alternative:term "FLG" xsd:string property_value: alternative:term "FLT2" xsd:string property_value: alternative:term "Fms-related tyrosine kinase 2" xsd:string property_value: alternative:term "H2" xsd:string property_value: alternative:term "H3" xsd:string property_value: alternative:term "H4" xsd:string property_value: alternative:term "H5" xsd:string property_value: alternative:term "KAL2" xsd:string property_value: alternative:term "N-SAM" xsd:string property_value: alternative:term "Pfeiffer syndrome" xsd:string property_value: symbol "FGFR1" xsd:string [Term] id: Orphanet:121815 name: fibroblast growth factor receptor 3 xref: ENSEMBL:ENSG00000068078 xref: GENATLAS:FGFR3 xref: HGNC:3690 xref: IUPHAR:1810 xref: OMIM:134934 xref: REACTOME:P22607 xref: UNIPROTKB/SWISSPROT:P22607 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:15 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Achondroplasia relationship: Orphanet:317343 Orphanet:1555 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cutis gyrata - acanthosis nigricans - craniosynostosis relationship: Orphanet:317343 Orphanet:1860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thanatophoric dysplasia type 1 relationship: Orphanet:317343 Orphanet:2343 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated cloverleaf skull syndrome relationship: Orphanet:317343 Orphanet:2363 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lacrimo-auriculo-dento-digital syndrome relationship: Orphanet:317343 Orphanet:35098 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated plagiocephaly relationship: Orphanet:317343 Orphanet:35099 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated brachycephaly relationship: Orphanet:317343 Orphanet:429 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypochondroplasia relationship: Orphanet:317343 Orphanet:53271 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Muenke syndrome relationship: Orphanet:317343 Orphanet:85164 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Camptodactyly - tall stature - scoliosis - hearing loss relationship: Orphanet:317343 Orphanet:85165 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe achondroplasia - developmental delay - acanthosis nigricans relationship: Orphanet:317343 Orphanet:93262 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Crouzon syndrome - acanthosis nigricans relationship: Orphanet:317343 Orphanet:93274 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thanatophoric dysplasia type 2 relationship: Orphanet:317348 Orphanet:251576 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gliosarcoma relationship: Orphanet:317348 Orphanet:251579 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Giant cell glioblastoma relationship: Orphanet:327767 Orphanet:794 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Saethre-Chotzen syndrome property_value: alternative:term "ACH" xsd:string property_value: alternative:term "achondroplasia, thanatophoric dwarfism" xsd:string property_value: alternative:term "CD333" xsd:string property_value: alternative:term "CEK2" xsd:string property_value: alternative:term "Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)" xsd:string property_value: alternative:term "JTK4" xsd:string property_value: symbol "FGFR3" xsd:string [Term] id: Orphanet:121821 name: fibrinogen gamma chain xref: ENSEMBL:ENSG00000171557 xref: GENATLAS:FGG xref: HGNC:3694 xref: OMIM:134850 xref: REACTOME:P02679 xref: UNIPROTKB/SWISSPROT:P02679 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101041 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hypofibrinogenemia relationship: Orphanet:317343 Orphanet:248408 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hypodysfibrinogenemia relationship: Orphanet:317343 Orphanet:98880 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial afibrinogenemia relationship: Orphanet:317343 Orphanet:98881 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial dysfibrinogenemia property_value: alternative:term "fibrinogen, gamma polypeptide" xsd:string property_value: symbol "FGG" xsd:string [Term] id: Orphanet:121823 name: fumarate hydratase xref: ENSEMBL:ENSG00000091483 xref: GENATLAS:FH xref: HGNC:3700 xref: OMIM:136850 xref: REACTOME:P07954 xref: UNIPROTKB/SWISSPROT:P07954 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:24 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fumaric aciduria relationship: Orphanet:317345 Orphanet:523 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial leiomyomatosis property_value: alternative:term "fumarase" xsd:string property_value: symbol "FH" xsd:string [Term] id: Orphanet:121826 name: fragile histidine triad xref: ENSEMBL:ENSG00000189283 xref: GENATLAS:FHIT xref: HGNC:3701 xref: OMIM:601153 xref: UNIPROTKB/SWISSPROT:P49789 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:151 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial renal cell carcinoma property_value: alternative:term "AP3Aase" xsd:string property_value: alternative:term "FRA3B" xsd:string property_value: alternative:term "Fragile histidine triad gene" xsd:string property_value: symbol "FHIT" xsd:string [Term] id: Orphanet:121830 name: factor interacting with PAPOLA and CPSF1 xref: ENSEMBL:ENSG00000145216 xref: GENATLAS:FIP1L1 xref: HGNC:19124 xref: OMIM:607686 xref: UNIPROTKB/SWISSPROT:Q6UN15 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:3260 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Idiopathic hypereosinophilic syndrome property_value: alternative:term "DKFZp586K0717" xsd:string property_value: alternative:term "FIP1" xsd:string property_value: alternative:term "FIP1 like 1 (S. cerevisiae)" xsd:string property_value: alternative:term "FIP1L1 cleavage and polyadenylation specific factor subunit" xsd:string property_value: symbol "FIP1L1" xsd:string [Term] id: Orphanet:121833 name: FK506 binding protein 6, 36kDa xref: ENSEMBL:ENSG00000077800 xref: GENATLAS:FKBP6 xref: HGNC:3722 xref: OMIM:604839 xref: REACTOME:O75344 xref: UNIPROTKB/SWISSPROT:O75344 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Williams syndrome property_value: alternative:term "FK506 binding protein 6 (36kD)" xsd:string property_value: alternative:term "FK506-binding protein 6 (36kD)" xsd:string property_value: alternative:term "FKBP36" xsd:string property_value: alternative:term "immunophilin FKBP36" xsd:string property_value: alternative:term "peptidylprolyl cis-trans isomerase" xsd:string property_value: alternative:term "PPIase" xsd:string property_value: alternative:term "rotamase" xsd:string property_value: symbol "FKBP6" xsd:string [Term] id: Orphanet:121835 name: fukutin related protein xref: ENSEMBL:ENSG00000181027 xref: GENATLAS:FKRP xref: HGNC:17997 xref: OMIM:606596 xref: UNIPROTKB/SWISSPROT:Q9H9S5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:34515 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive limb-girdle muscular dystrophy type 2I relationship: Orphanet:317343 Orphanet:370959 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital muscular dystrophy with cerebellar involvement relationship: Orphanet:317343 Orphanet:370968 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital muscular dystrophy with intellectual disability relationship: Orphanet:317343 Orphanet:370980 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital muscular dystrophy without intellectual disability relationship: Orphanet:317343 Orphanet:588 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Muscle-eye-brain disease relationship: Orphanet:317343 Orphanet:899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Walker-Warburg syndrome property_value: alternative:term "LGMD2I" xsd:string property_value: alternative:term "MDC1C" xsd:string property_value: symbol "FKRP" xsd:string [Term] id: Orphanet:121839 name: folliculin xref: ENSEMBL:ENSG00000154803 xref: GENATLAS:FLCN xref: HGNC:27310 xref: OMIM:607273 xref: UNIPROTKB/SWISSPROT:Q8NFG4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:122 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Birt-Hogg-Dube syndrome relationship: Orphanet:317343 Orphanet:2903 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial spontaneous pneumothorax property_value: alternative:term "BHD" xsd:string property_value: alternative:term "MGC17998" xsd:string property_value: alternative:term "MGC23445" xsd:string property_value: symbol "FLCN" xsd:string [Term] id: Orphanet:121846 name: Fli-1 proto-oncogene, ETS transcription factor xref: ENSEMBL:ENSG00000151702 xref: GENATLAS:FLI1 xref: HGNC:3749 xref: OMIM:193067 xref: UNIPROTKB/SWISSPROT:Q01543 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:851 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Paris-Trousseau thrombocytopenia relationship: Orphanet:317348 Orphanet:319 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ewing sarcoma relationship: Orphanet:317348 Orphanet:370334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Extraskeletal Ewing sarcoma relationship: Orphanet:317348 Orphanet:370348 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Peripheral primitive neuroectodermal tumor property_value: alternative:term "EWSR2" xsd:string property_value: alternative:term "Friend leukemia virus integration 1" xsd:string property_value: alternative:term "SIC-1" xsd:string property_value: symbol "FLI1" xsd:string [Term] id: Orphanet:121850 name: flightless I homolog (Drosophila) xref: ENSEMBL:ENSG00000177731 xref: GENATLAS:FLII xref: HGNC:3750 xref: OMIM:600362 xref: UNIPROTKB/SWISSPROT:Q13045 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:819 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Smith-Magenis syndrome property_value: alternative:term "FLI" xsd:string property_value: alternative:term "Fli1" xsd:string property_value: alternative:term "flightless I (Drosophila) homolog" xsd:string property_value: alternative:term "FLIL" xsd:string property_value: alternative:term "MGC39265" xsd:string property_value: symbol "FLII" xsd:string [Term] id: Orphanet:121853 name: filamin A, alpha xref: ENSEMBL:ENSG00000196924 xref: GENATLAS:FLNA xref: HGNC:3754 xref: OMIM:300017 xref: REACTOME:P21333 xref: UNIPROTKB/SWISSPROT:P21333 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1826 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Frontometaphyseal dysplasia relationship: Orphanet:317343 Orphanet:1864 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital valvular dysplasia relationship: Orphanet:317343 Orphanet:2301 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital short bowel syndrome relationship: Orphanet:317343 Orphanet:2484 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteodysplasty, Melnick-Needles type relationship: Orphanet:317343 Orphanet:2978 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chronic intestinal pseudo-obstruction relationship: Orphanet:317343 Orphanet:82004 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos syndrome with periventricular heterotopia relationship: Orphanet:317343 Orphanet:88630 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Terminal osseous dysplasia - pigmentary defects relationship: Orphanet:317343 Orphanet:90650 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Otopalatodigital syndrome type 1 relationship: Orphanet:317343 Orphanet:90652 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Otopalatodigital syndrome type 2 relationship: Orphanet:317343 Orphanet:98892 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Periventricular nodular heterotopia property_value: alternative:term "ABP-280" xsd:string property_value: alternative:term "actin binding protein 280" xsd:string property_value: alternative:term "Filamin A, alpha (actin binding protein 280)" xsd:string property_value: alternative:term "FLN" xsd:string property_value: alternative:term "FLN1" xsd:string property_value: alternative:term "OPD1" xsd:string property_value: alternative:term "OPD2" xsd:string property_value: symbol "FLNA" xsd:string [Term] id: Orphanet:121860 name: filamin B, beta xref: ENSEMBL:ENSG00000136068 xref: GENATLAS:FLNB xref: HGNC:3755 xref: OMIM:603381 xref: REACTOME:O75369 xref: UNIPROTKB/SWISSPROT:O75369 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1190 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atelosteogenesis type I relationship: Orphanet:317343 Orphanet:1263 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Boomerang dysplasia relationship: Orphanet:317343 Orphanet:3275 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spondylocarpotarsal synostosis relationship: Orphanet:317343 Orphanet:503 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Larsen syndrome relationship: Orphanet:317343 Orphanet:56305 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atelosteogenesis type III property_value: alternative:term "ABP-278" xsd:string property_value: alternative:term "actin binding protein 278" xsd:string property_value: alternative:term "FH1" xsd:string property_value: alternative:term "Filamin B, beta (actin binding protein 278)" xsd:string property_value: alternative:term "FLN1L" xsd:string property_value: alternative:term "Larsen syndrome 1 (autosomal dominant)" xsd:string property_value: alternative:term "LRS1" xsd:string property_value: alternative:term "TABP" xsd:string property_value: alternative:term "TAP" xsd:string property_value: symbol "FLNB" xsd:string [Term] id: Orphanet:121867 name: filamin C, gamma xref: ENSEMBL:ENSG00000128591 xref: GENATLAS:FLNC xref: HGNC:3756 xref: OMIM:102565 xref: REACTOME:Q14315 xref: UNIPROTKB/SWISSPROT:Q14315 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171445 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Muscle filaminopathy relationship: Orphanet:317343 Orphanet:63273 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Distal myopathy with posterior leg and anterior hand involvement property_value: alternative:term "ABP-280" xsd:string property_value: alternative:term "ABPL" xsd:string property_value: alternative:term "actin binding protein 280" xsd:string property_value: alternative:term "Filamin C, gamma (actin binding protein 280)" xsd:string property_value: alternative:term "FLN2" xsd:string property_value: symbol "FLNC" xsd:string [Term] id: Orphanet:121872 name: fms-related tyrosine kinase 4 xref: ENSEMBL:ENSG00000037280 xref: GENATLAS:FLT4 xref: HGNC:3767 xref: IUPHAR:1814 xref: OMIM:136352 xref: REACTOME:P35916 xref: UNIPROTKB/SWISSPROT:P35916 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79452 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Milroy disease property_value: alternative:term "PCL" xsd:string property_value: alternative:term "VEGFR3" xsd:string property_value: symbol "FLT4" xsd:string [Term] id: Orphanet:121878 name: fragile X mental retardation 1 xref: ENSEMBL:ENSG00000102081 xref: GENATLAS:FMR1 xref: HGNC:3775 xref: OMIM:309550 xref: UNIPROTKB/SWISSPROT:Q06787 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:908 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fragile X syndrome relationship: Orphanet:317343 Orphanet:93256 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fragile X-associated tremor/ataxia syndrome relationship: Orphanet:317349 Orphanet:261483 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Xq27.3q28 duplication syndrome property_value: alternative:term "FMRP" xsd:string property_value: alternative:term "FRAXA" xsd:string property_value: alternative:term "MGC87458" xsd:string property_value: alternative:term "POF" xsd:string property_value: alternative:term "POF1" xsd:string property_value: alternative:term "premature ovarian failure 1" xsd:string property_value: symbol "FMR1" xsd:string [Term] id: Orphanet:121883 name: forkhead box C1 xref: ENSEMBL:ENSG00000054598 xref: GENATLAS:FOXC1 xref: HGNC:3800 xref: OMIM:601090 xref: UNIPROTKB/SWISSPROT:Q12948 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:708 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Peters anomaly relationship: Orphanet:317343 Orphanet:782 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Axenfeld-Rieger syndrome relationship: Orphanet:317343 Orphanet:91483 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rieger anomaly relationship: Orphanet:317343 Orphanet:98978 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Axenfeld anomaly property_value: alternative:term "ARA" xsd:string property_value: alternative:term "FKHL7" xsd:string property_value: alternative:term "FREAC3" xsd:string property_value: alternative:term "IGDA" xsd:string property_value: alternative:term "IHG1" xsd:string property_value: alternative:term "IRID1" xsd:string property_value: symbol "FOXC1" xsd:string [Term] id: Orphanet:121891 name: forkhead box C2 (MFH-1, mesenchyme forkhead 1) xref: ENSEMBL:ENSG00000176692 xref: GENATLAS:FOXC2 xref: HGNC:3801 xref: OMIM:602402 xref: UNIPROTKB/SWISSPROT:Q99958 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:33001 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lymphedema - distichiasis relationship: Orphanet:327767 Orphanet:662 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Yellow nail syndrome property_value: alternative:term "FKHL14" xsd:string property_value: alternative:term "MFH-1" xsd:string property_value: symbol "FOXC2" xsd:string [Term] id: Orphanet:121895 name: forkhead box E1 (thyroid transcription factor 2) xref: ENSEMBL:ENSG00000178919 xref: GENATLAS:FOXE1 xref: HGNC:3806 xref: OMIM:602617 xref: UNIPROTKB/SWISSPROT:O00358 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1226 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bamforth syndrome relationship: Orphanet:317343 Orphanet:95713 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Athyreosis relationship: Orphanet:317343 Orphanet:95720 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thyroid hypoplasia relationship: Orphanet:317345 Orphanet:146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Papillary or follicular thyroid carcinoma property_value: alternative:term "FKHL15" xsd:string property_value: alternative:term "forkhead box E2" xsd:string property_value: alternative:term "FOXE2" xsd:string property_value: alternative:term "HFKH4" xsd:string property_value: alternative:term "TITF2" xsd:string property_value: alternative:term "TTF-2" xsd:string property_value: symbol "FOXE1" xsd:string [Term] id: Orphanet:1219 name: Aurocephalosyndactyly is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_794 with label: Saethre-Chotzen syndrome" xsd:string [Term] id: Orphanet:121900 name: forkhead box E3 xref: ENSEMBL:ENSG00000186790 xref: GENATLAS:FOXE3 xref: HGNC:3808 xref: OMIM:601094 xref: UNIPROTKB/SWISSPROT:Q13461 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:83461 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital primary aphakia relationship: Orphanet:317343 Orphanet:88632 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial ocular anterior segment mesenchymal dysgenesis property_value: alternative:term "FKHL12" xsd:string property_value: alternative:term "FREAC8" xsd:string property_value: symbol "FOXE3" xsd:string [Term] id: Orphanet:121904 name: forkhead box L2 xref: ENSEMBL:ENSG00000183770 xref: GENATLAS:FOXL2 xref: HGNC:1092 xref: OMIM:605597 xref: UNIPROTKB/SWISSPROT:P58012 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:261572 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Blepharophimosis - epicanthus inversus - ptosis due to a point mutation relationship: Orphanet:317349 Orphanet:261559 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion property_value: alternative:term "BPES" xsd:string property_value: alternative:term "BPES1" xsd:string property_value: symbol "FOXL2" xsd:string [Term] id: Orphanet:121908 name: forkhead box O1 xref: ENSEMBL:ENSG00000150907 xref: GENATLAS:FOXO1 xref: HGNC:3819 xref: OMIM:136533 xref: REACTOME:Q12778 xref: UNIPROTKB/SWISSPROT:Q12778 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:99756 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alveolar rhabdomyosarcoma property_value: alternative:term "FKH1" xsd:string property_value: alternative:term "FKHR" xsd:string property_value: alternative:term "forkhead homolog in rhabdomyosarcoma" xsd:string property_value: alternative:term "FOXO1A" xsd:string property_value: symbol "FOXO1" xsd:string [Term] id: Orphanet:121913 name: forkhead box P3 xref: ENSEMBL:ENSG00000049768 xref: GENATLAS:FOXP3 xref: HGNC:6106 xref: OMIM:300292 xref: UNIPROTKB/SWISSPROT:Q9BZS1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:37042 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome property_value: alternative:term "AIID" xsd:string property_value: alternative:term "DIETER" xsd:string property_value: alternative:term "immune dysregulation, polyendocrinopathy, enteropathy, X-linked" xsd:string property_value: alternative:term "IPEX" xsd:string property_value: alternative:term "JM2" xsd:string property_value: alternative:term "PIDX" xsd:string property_value: alternative:term "SCURFIN" xsd:string property_value: alternative:term "XPID" xsd:string property_value: symbol "FOXP3" xsd:string [Term] id: Orphanet:121922 name: Fraser syndrome 1 xref: ENSEMBL:ENSG00000138759 xref: GENATLAS:FRAS1 xref: HGNC:19185 xref: OMIM:607830 xref: UNIPROTKB/SWISSPROT:Q86XX4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2052 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fraser syndrome property_value: alternative:term "FLJ14927" xsd:string property_value: alternative:term "FLJ22031" xsd:string property_value: alternative:term "KIAA1500" xsd:string property_value: symbol "FRAS1" xsd:string [Term] id: Orphanet:121927 name: FRAS1 related extracellular matrix protein 2 xref: ENSEMBL:ENSG00000150893 xref: GENATLAS:FREM2 xref: HGNC:25396 xref: OMIM:608945 xref: UNIPROTKB/SWISSPROT:Q5SZK8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2052 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fraser syndrome property_value: alternative:term "DKFZp686J0811" xsd:string property_value: symbol "FREM2" xsd:string [Term] id: Orphanet:121930 name: FSHD region gene 1 xref: ENSEMBL:ENSG00000109536 xref: GENATLAS:FRG1 xref: HGNC:3954 xref: OMIM:601278 xref: UNIPROTKB/SWISSPROT:Q14331 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:269 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Facioscapulohumeral dystrophy property_value: alternative:term "FRG1A" xsd:string property_value: alternative:term "FSG1" xsd:string property_value: symbol "FRG1" xsd:string [Term] id: Orphanet:121938 name: fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) xref: ENSEMBL:ENSG00000186765 xref: GENATLAS:FSCN2 xref: HGNC:3960 xref: OMIM:607643 xref: UNIPROTKB/SWISSPROT:O14926 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)" xsd:string property_value: alternative:term "RFSN" xsd:string property_value: alternative:term "RP30" xsd:string property_value: symbol "FSCN2" xsd:string [Term] id: Orphanet:121941 name: follicle stimulating hormone, beta polypeptide xref: ENSEMBL:ENSG00000131808 xref: GENATLAS:FSHB xref: HGNC:3964 xref: OMIM:136530 xref: REACTOME:P01225 xref: UNIPROTKB/SWISSPROT:P01225 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:52901 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated follicle stimulating hormone deficiency property_value: alternative:term "follicle-stimulating hormone beta subunit" xsd:string property_value: alternative:term "follitropin, beta chain" xsd:string property_value: symbol "FSHB" xsd:string [Term] id: Orphanet:121943 name: follicle stimulating hormone receptor xref: ENSEMBL:ENSG00000170820 xref: GENATLAS:FSHR xref: HGNC:3969 xref: IUPHAR:253 xref: OMIM:136435 xref: REACTOME:P23945 xref: UNIPROTKB/SWISSPROT:P23945 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:243 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XX gonadal dysgenesis relationship: Orphanet:317343 Orphanet:64739 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ovarian hyperstimulation syndrome property_value: alternative:term "FSHRO" xsd:string property_value: alternative:term "LGR1" xsd:string property_value: alternative:term "ODG1" xsd:string property_value: symbol "FSHR" xsd:string [Term] id: Orphanet:121951 name: formimidoyltransferase cyclodeaminase xref: ENSEMBL:ENSG00000160282 xref: GENATLAS:FTCD xref: HGNC:3974 xref: OMIM:606806 xref: REACTOME:O95954 xref: UNIPROTKB/SWISSPROT:O95954 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:51208 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Formiminoglutamic aciduria property_value: alternative:term "Formiminotransferase cyclodeaminase" xsd:string property_value: symbol "FTCD" xsd:string [Term] id: Orphanet:121953 name: ferritin, light polypeptide xref: ENSEMBL:ENSG00000087086 xref: GENATLAS:FTL xref: HGNC:3999 xref: OMIM:134790 xref: REACTOME:P02792 xref: UNIPROTKB/SWISSPROT:P02792 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:157846 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neuroferritinopathy relationship: Orphanet:317343 Orphanet:163 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary hyperferritinemia with congenital cataracts relationship: Orphanet:317343 Orphanet:254704 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Genetic hyperferritinemia without iron overload property_value: alternative:term "ferritin L subunit" xsd:string property_value: alternative:term "ferritin L-chain" xsd:string property_value: alternative:term "ferritin light chain" xsd:string property_value: alternative:term "ferritin light polypeptide-like 3" xsd:string property_value: alternative:term "L apoferritin" xsd:string property_value: alternative:term "MGC71996" xsd:string property_value: alternative:term "NBIA3" xsd:string property_value: alternative:term "neurodegeneration with brain iron accumulation 3" xsd:string property_value: symbol "FTL" xsd:string [Term] id: Orphanet:121955 name: FtsJ RNA methyltransferase homolog 1 (E. coli) xref: ENSEMBL:ENSG00000068438 xref: GENATLAS:FTSJ1 xref: HGNC:13254 xref: OMIM:300499 xref: UNIPROTKB/SWISSPROT:Q9UET6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit property_value: alternative:term "CDLIV" xsd:string property_value: alternative:term "FtsJ homolog 1 (E. coli)" xsd:string property_value: alternative:term "JM23" xsd:string property_value: alternative:term "mental retardation, X-linked 44" xsd:string property_value: alternative:term "mental retardation, X-linked 9" xsd:string property_value: alternative:term "MRX44" xsd:string property_value: alternative:term "MRX9" xsd:string property_value: alternative:term "SPB1" xsd:string property_value: alternative:term "TRM7" xsd:string property_value: alternative:term "TRMT7" xsd:string property_value: alternative:term "tRNA methyltransferase 7 homolog (S. cerevisiae)" xsd:string property_value: symbol "FTSJ1" xsd:string [Term] id: Orphanet:121963 name: fucosidase, alpha-L- 1, tissue xref: ENSEMBL:ENSG00000179163 xref: GENATLAS:FUCA1 xref: HGNC:4006 xref: OMIM:612280 xref: UNIPROTKB/SWISSPROT:P04066 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:349 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fucosidosis property_value: symbol "FUCA1" xsd:string [Term] id: Orphanet:121965 name: frataxin xref: ENSEMBL:ENSG00000165060 xref: GENATLAS:FXN xref: HGNC:3951 xref: OMIM:606829 xref: REACTOME:Q16595 xref: UNIPROTKB/SWISSPROT:Q16595 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:95 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Friedreich ataxia property_value: alternative:term "CyaY" xsd:string property_value: alternative:term "FA" xsd:string property_value: alternative:term "FARR" xsd:string property_value: alternative:term "FRDA" xsd:string property_value: alternative:term "Friedreich ataxia" xsd:string property_value: alternative:term "X25" xsd:string property_value: symbol "FXN" xsd:string [Term] id: Orphanet:121972 name: FXYD domain containing ion transport regulator 2 xref: ENSEMBL:ENSG00000137731 xref: GENATLAS:FXYD2 xref: HGNC:4026 xref: IUPHAR:2610 xref: OMIM:601814 xref: REACTOME:P54710 xref: UNIPROTKB/SWISSPROT:P54710 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:34528 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant primary hypomagnesemia with hypocalcuria property_value: alternative:term "ATP1G1" xsd:string property_value: alternative:term "HOMG2" xsd:string property_value: alternative:term "hypomagnesemia 2, renal" xsd:string property_value: alternative:term "MGC12372" xsd:string property_value: symbol "FXYD2" xsd:string [Term] id: Orphanet:121977 name: frizzled family receptor 4 xref: ENSEMBL:ENSG00000174804 xref: GENATLAS:FZD4 xref: HGNC:4042 xref: IUPHAR:232 xref: OMIM:604579 xref: REACTOME:Q9ULV1 xref: UNIPROTKB/SWISSPROT:Q9ULV1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:891 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial exudative vitreoretinopathy relationship: Orphanet:317343 Orphanet:91495 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Persistent hyperplastic primary vitreous relationship: Orphanet:317345 Orphanet:90050 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Retinopathy of prematurity property_value: alternative:term "CD344" xsd:string property_value: alternative:term "EVR1" xsd:string property_value: alternative:term "exudative vitreoretinopathy 1" xsd:string property_value: alternative:term "frizzled (Drosophila) homolog 4" xsd:string property_value: alternative:term "frizzled 4, seven transmembrane spanning receptor" xsd:string property_value: alternative:term "Frizzled homolog 4 (Drosophila)" xsd:string property_value: symbol "FZD4" xsd:string [Term] id: Orphanet:121980 name: glucose-6-phosphatase, catalytic subunit xref: ENSEMBL:ENSG00000131482 xref: GENATLAS:G6PC xref: HGNC:4056 xref: OMIM:613742 xref: REACTOME:P35575 xref: UNIPROTKB/SWISSPROT:P35575 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79258 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to glucose-6-phosphatase deficiency type a property_value: alternative:term "G6PT" xsd:string property_value: alternative:term "glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)" xsd:string property_value: alternative:term "glycogen storage disease type I, von Gierke disease" xsd:string property_value: alternative:term "GSD1a" xsd:string property_value: symbol "G6PC" xsd:string [Term] id: Orphanet:121987 name: glucosidase, alpha; acid xref: ENSEMBL:ENSG00000171298 xref: GENATLAS:GAA xref: HGNC:4065 xref: IUPHAR:2611 xref: OMIM:606800 xref: UNIPROTKB/SWISSPROT:P10253 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:308552 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to acid maltase deficiency, infantile onset relationship: Orphanet:317343 Orphanet:308573 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to acid maltase deficiency, juvenile onset relationship: Orphanet:317343 Orphanet:308604 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to acid maltase deficiency, adult onset property_value: alternative:term "Glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)" xsd:string property_value: alternative:term "glycogen storage disease type II" xsd:string property_value: alternative:term "Pompe disease" xsd:string property_value: symbol "GAA" xsd:string [Term] id: Orphanet:121989 name: gamma-aminobutyric acid (GABA) A receptor, alpha 1 xref: ENSEMBL:ENSG00000022355 xref: GENATLAS:GABRA1 xref: HGNC:4075 xref: IUPHAR:404 xref: OMIM:137160 xref: REACTOME:P14867 xref: UNIPROTKB/SWISSPROT:P14867 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:307 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Juvenile myoclonic epilepsy relationship: Orphanet:317343 Orphanet:64280 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Childhood absence epilepsy property_value: alternative:term "EJM5" xsd:string property_value: alternative:term "GABA(A) receptor, alpha 1" xsd:string property_value: symbol "GABRA1" xsd:string [Term] id: Orphanet:121991 name: gamma-aminobutyric acid (GABA) A receptor, delta xref: ENSEMBL:ENSG00000187730 xref: GENATLAS:GABRD xref: HGNC:4084 xref: IUPHAR:416 xref: OMIM:137163 xref: UNIPROTKB/SWISSPROT:O14764 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:307 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Juvenile myoclonic epilepsy relationship: Orphanet:317343 Orphanet:36387 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized epilepsy with febrile seizures-plus context relationship: Orphanet:317349 Orphanet:1606 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 1p36 deletion syndrome property_value: alternative:term "GABA(A) receptor, delta" xsd:string property_value: symbol "GABRD" xsd:string [Term] id: Orphanet:121993 name: gamma-aminobutyric acid (GABA) A receptor, gamma 2 xref: ENSEMBL:ENSG00000113327 xref: GENATLAS:GABRG2 xref: HGNC:4087 xref: IUPHAR:414 xref: OMIM:137164 xref: REACTOME:P18507 xref: UNIPROTKB/SWISSPROT:P18507 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:33069 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Dravet syndrome relationship: Orphanet:317343 Orphanet:36387 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized epilepsy with febrile seizures-plus context relationship: Orphanet:317343 Orphanet:64280 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Childhood absence epilepsy property_value: alternative:term "GABA(A) receptor, gamma 2" xsd:string property_value: symbol "GABRG2" xsd:string [Term] id: Orphanet:121995 name: galactosylceramidase xref: ENSEMBL:ENSG00000054983 xref: GENATLAS:GALC xref: HGNC:4115 xref: OMIM:606890 xref: REACTOME:P54803 xref: UNIPROTKB/SWISSPROT:P54803 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:206436 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile Krabbe disease relationship: Orphanet:317343 Orphanet:206443 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Late-infantile/juvenile Krabbe disease relationship: Orphanet:317343 Orphanet:206448 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adult Krabbe disease property_value: alternative:term "galactosylceramidase (Krabbe disease)" xsd:string property_value: alternative:term "Krabbe disease" xsd:string property_value: symbol "GALC" xsd:string [Term] id: Orphanet:121997 name: UDP-galactose-4-epimerase xref: ENSEMBL:ENSG00000117308 xref: GENATLAS:GALE xref: HGNC:4116 xref: OMIM:606953 xref: REACTOME:Q14376 xref: UNIPROTKB/SWISSPROT:Q14376 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:308473 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Erythrocyte galactose epimerase deficiency relationship: Orphanet:317343 Orphanet:308487 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized galactose epimerase deficiency property_value: alternative:term "galactose-4-epimerase, UDP-" xsd:string property_value: alternative:term "SDR1E1" xsd:string property_value: alternative:term "short chain dehydrogenase/reductase family 1E, member 1" xsd:string property_value: alternative:term "UDP-glucose 4-epimerase" xsd:string property_value: symbol "GALE" xsd:string [Term] id: Orphanet:121999 name: galactokinase 1 xref: ENSEMBL:ENSG00000108479 xref: GENATLAS:GALK1 xref: HGNC:4118 xref: OMIM:604313 xref: REACTOME:P51570 xref: UNIPROTKB/SWISSPROT:P51570 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79237 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Galactokinase deficiency property_value: alternative:term "GALK" xsd:string property_value: symbol "GALK1" xsd:string [Term] id: Orphanet:122 name: Birt-Hogg-Dube syndrome xref: MEDDRA:10067736 xref: MESH:D058249 xref: OMIM:135150 xref: SNOMED CT:110985001 xref: UMLS:C0346010 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:319328 ! Inherited renal cell cancer-predisposing syndrome relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma property_value: alternative:term "Fibrofolliculomas with trichodiscomas and acrochordons" xsd:string [Term] id: Orphanet:122002 name: galactosamine (N-acetyl)-6-sulfate sulfatase xref: ENSEMBL:ENSG00000141012 xref: GENATLAS:GALNS xref: HGNC:4122 xref: OMIM:612222 xref: UNIPROTKB/SWISSPROT:P34059 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:309297 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mucopolysaccharidosis type 4A property_value: alternative:term "Galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA)" xsd:string property_value: alternative:term "GALNAC6S" xsd:string property_value: alternative:term "GAS" xsd:string property_value: alternative:term "Morquio syndrome" xsd:string property_value: alternative:term "mucopolysaccharidosis type IVA" xsd:string property_value: symbol "GALNS" xsd:string [Term] id: Orphanet:122006 name: UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) xref: ENSEMBL:ENSG00000115339 xref: GENATLAS:GALNT3 xref: HGNC:4125 xref: OMIM:601756 xref: REACTOME:Q14435 xref: UNIPROTKB/SWISSPROT:Q14435 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:306661 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypercalcemic tumoral calcinosis property_value: alternative:term "GalNAc-T3" xsd:string property_value: alternative:term "HFTC" xsd:string property_value: alternative:term "HHS" xsd:string property_value: symbol "GALNT3" xsd:string [Term] id: Orphanet:122009 name: galactose-1-phosphate uridylyltransferase xref: ENSEMBL:ENSG00000213930 xref: GENATLAS:GALT xref: HGNC:4135 xref: OMIM:606999 xref: REACTOME:P07902 xref: UNIPROTKB/SWISSPROT:P07902 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79239 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Classic galactosemia property_value: symbol "GALT" xsd:string [Term] id: Orphanet:122011 name: guanidinoacetate N-methyltransferase xref: ENSEMBL:ENSG00000130005 xref: GENATLAS:GAMT xref: HGNC:4136 xref: OMIM:601240 xref: REACTOME:Q14353 xref: UNIPROTKB/SWISSPROT:Q14353 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:382 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Guanidinoacetate methyltransferase deficiency property_value: alternative:term "PIG2" xsd:string property_value: alternative:term "TP53I2" xsd:string property_value: symbol "GAMT" xsd:string [Term] id: Orphanet:122015 name: gigaxonin xref: ENSEMBL:ENSG00000127688 xref: GENATLAS:GAN xref: HGNC:4137 xref: OMIM:605379 xref: REACTOME:Q9H2C0 xref: UNIPROTKB/SWISSPROT:Q9H2C0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:643 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Giant axonal neuropathy property_value: alternative:term "GAN1" xsd:string property_value: alternative:term "Giant axonal neuropathy (gigaxonin)" xsd:string property_value: alternative:term "kelch-like family member 16" xsd:string property_value: alternative:term "KLHL16" xsd:string property_value: symbol "GAN" xsd:string [Term] id: Orphanet:122022 name: glycyl-tRNA synthetase xref: ENSEMBL:ENSG00000106105 xref: GENATLAS:GARS xref: HGNC:4162 xref: OMIM:600287 xref: REACTOME:P41250 xref: UNIPROTKB/SWISSPROT:P41250 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:139536 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Distal hereditary motor neuropathy type 5 relationship: Orphanet:317343 Orphanet:99938 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Charcot-Marie-Tooth disease type 2D property_value: alternative:term "Charcot-Marie-Tooth neuropathy 2D" xsd:string property_value: alternative:term "CMT2D" xsd:string property_value: alternative:term "DSMAV" xsd:string property_value: alternative:term "glycine tRNA ligase" xsd:string property_value: alternative:term "GlyRS" xsd:string property_value: alternative:term "SMAD1" xsd:string property_value: symbol "GARS" xsd:string [Term] id: Orphanet:122028 name: GATA binding protein 1 (globin transcription factor 1) xref: ENSEMBL:ENSG00000102145 xref: GENATLAS:GATA1 xref: HGNC:4170 xref: OMIM:305371 xref: REACTOME:P15976 xref: UNIPROTKB/SWISSPROT:P15976 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231393 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Beta-thalassemia - X-linked thrombocytopenia relationship: Orphanet:317343 Orphanet:363727 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked dyserythropoetic anemia with abnormal platelets and neutropenia relationship: Orphanet:317343 Orphanet:67044 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thrombocytopenia with congenital dyserythropoietic anemia relationship: Orphanet:317343 Orphanet:79277 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital erythropoietic porphyria relationship: Orphanet:317348 Orphanet:86849 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Acute basophilic leukemia property_value: alternative:term "ERYF1" xsd:string property_value: alternative:term "GATA-1" xsd:string property_value: alternative:term "GATA-binding protein 1 (globin transcription factor 1)" xsd:string property_value: alternative:term "GF1" xsd:string property_value: alternative:term "NF-E1" xsd:string property_value: alternative:term "NFE1" xsd:string property_value: alternative:term "nuclear factor, erythroid 1" xsd:string property_value: symbol "GATA1" xsd:string [Term] id: Orphanet:122033 name: GATA binding protein 3 xref: ENSEMBL:ENSG00000107485 xref: GENATLAS:GATA3 xref: HGNC:4172 xref: OMIM:131320 xref: REACTOME:P23771 xref: UNIPROTKB/SWISSPROT:P23771 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2237 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypoparathyroidism - deafness - renal disease relationship: Orphanet:317345 Orphanet:99860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor B-cell acute lymphoblastic leukemia property_value: alternative:term "GATA-binding protein 3" xsd:string property_value: alternative:term "HDR" xsd:string property_value: symbol "GATA3" xsd:string [Term] id: Orphanet:122035 name: GATA binding protein 4 xref: ENSEMBL:ENSG00000136574 xref: GENATLAS:GATA4 xref: HGNC:4173 xref: OMIM:600576 xref: REACTOME:P43694 xref: UNIPROTKB/SWISSPROT:P43694 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1329 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Complete atrioventricular canal relationship: Orphanet:317343 Orphanet:1330 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Partial atrioventricular canal relationship: Orphanet:317343 Orphanet:1480 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ventricular septal defect relationship: Orphanet:317343 Orphanet:251510 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XY partial gonadal dysgenesis relationship: Orphanet:317343 Orphanet:99103 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atrial septal defect, ostium secundum type relationship: Orphanet:317345 Orphanet:3303 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Tetralogy of Fallot relationship: Orphanet:317345 Orphanet:334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial atrial fibrillation relationship: Orphanet:317349 Orphanet:251071 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 8p23.1 microdeletion syndrome property_value: alternative:term "GATA-binding protein 4" xsd:string property_value: symbol "GATA4" xsd:string [Term] id: Orphanet:122037 name: glycine amidinotransferase (L-arginine:glycine amidinotransferase) xref: ENSEMBL:ENSG00000171766 xref: GENATLAS:GATM xref: HGNC:4175 xref: OMIM:602360 xref: REACTOME:P50440 xref: UNIPROTKB/SWISSPROT:P50440 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:35704 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Arginine:glycine amidinotransferase deficiency property_value: alternative:term "AGAT" xsd:string property_value: symbol "GATM" xsd:string [Term] id: Orphanet:122039 name: glucosidase, beta, acid xref: ENSEMBL:ENSG00000177628 xref: GENATLAS:GBA xref: HGNC:4177 xref: OMIM:606463 xref: REACTOME:P04062 xref: UNIPROTKB/SWISSPROT:P04062 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2072 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gaucher disease - ophthalmoplegia - cardiovascular calcification relationship: Orphanet:317343 Orphanet:77259 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gaucher disease type 1 relationship: Orphanet:317343 Orphanet:77260 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gaucher disease type 2 relationship: Orphanet:317343 Orphanet:77261 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gaucher disease type 3 relationship: Orphanet:317343 Orphanet:85212 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fetal Gaucher disease relationship: Orphanet:317345 Orphanet:2828 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Young adult-onset Parkinsonism property_value: alternative:term "GBA1" xsd:string property_value: alternative:term "GLUC" xsd:string property_value: alternative:term "Glucosidase, beta; acid (includes glucosylceramidase)" xsd:string property_value: alternative:term "Glucosylceramidase" xsd:string property_value: symbol "GBA" xsd:string [Term] id: Orphanet:122043 name: glucan (1,4-alpha-), branching enzyme 1 xref: ENSEMBL:ENSG00000114480 xref: GENATLAS:GBE1 xref: HGNC:4180 xref: OMIM:607839 xref: REACTOME:Q04446 xref: UNIPROTKB/SWISSPROT:Q04446 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:206583 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adult polyglucosan body disease relationship: Orphanet:317343 Orphanet:308621 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form relationship: Orphanet:317343 Orphanet:308638 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form relationship: Orphanet:317343 Orphanet:308655 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form relationship: Orphanet:317343 Orphanet:308670 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form relationship: Orphanet:317343 Orphanet:308684 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form relationship: Orphanet:317343 Orphanet:308698 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form relationship: Orphanet:317343 Orphanet:308712 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form property_value: alternative:term "Andersen disease" xsd:string property_value: alternative:term "Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)" xsd:string property_value: alternative:term "glycogen branching enzyme" xsd:string property_value: alternative:term "glycogen storage disease type IV" xsd:string property_value: symbol "GBE1" xsd:string [Term] id: Orphanet:122045 name: glutaryl-CoA dehydrogenase xref: ENSEMBL:ENSG00000105607 xref: GENATLAS:GCDH xref: HGNC:4189 xref: OMIM:608801 xref: REACTOME:Q92947 xref: UNIPROTKB/SWISSPROT:Q92947 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:25 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glutaryl-CoA dehydrogenase deficiency property_value: alternative:term "ACAD5" xsd:string property_value: alternative:term "Glutaryl-Coenzyme A dehydrogenase" xsd:string property_value: symbol "GCDH" xsd:string [Term] id: Orphanet:122048 name: GTP cyclohydrolase 1 xref: ENSEMBL:ENSG00000131979 xref: GENATLAS:GCH1 xref: HGNC:4193 xref: OMIM:600225 xref: REACTOME:P30793 xref: UNIPROTKB/SWISSPROT:P30793 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2102 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! GTP cyclohydrolase I deficiency relationship: Orphanet:317343 Orphanet:98808 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant dopa-responsive dystonia property_value: alternative:term "dopa-responsive dystonia" xsd:string property_value: alternative:term "dystonia 14" xsd:string property_value: alternative:term "DYT14" xsd:string property_value: alternative:term "DYT5" xsd:string property_value: alternative:term "DYT5a" xsd:string property_value: alternative:term "GCH" xsd:string property_value: alternative:term "GTP cyclohydrolase 1 (dopa-responsive dystonia)" xsd:string property_value: alternative:term "GTPCH1" xsd:string property_value: symbol "GCH1" xsd:string [Term] id: Orphanet:122053 name: glucokinase (hexokinase 4) xref: ENSEMBL:ENSG00000106633 xref: GENATLAS:GCK xref: HGNC:4195 xref: OMIM:138079 xref: REACTOME:P35557 xref: UNIPROTKB/SWISSPROT:P35557 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:552 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MODY syndrome relationship: Orphanet:317343 Orphanet:79299 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperinsulinism due to glucokinase deficiency relationship: Orphanet:317343 Orphanet:99885 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Permanent neonatal diabetes mellitus property_value: alternative:term "Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)" xsd:string property_value: alternative:term "HK4" xsd:string property_value: alternative:term "maturity onset diabetes of the young 2" xsd:string property_value: alternative:term "MODY2" xsd:string property_value: symbol "GCK" xsd:string [Term] id: Orphanet:122057 name: glutamate-cysteine ligase, catalytic subunit xref: ENSEMBL:ENSG00000001084 xref: GENATLAS:GCLC xref: HGNC:4311 xref: OMIM:606857 xref: REACTOME:P48506 xref: UNIPROTKB/SWISSPROT:P48506 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:33574 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gamma-glutamylcysteine synthetase deficiency property_value: alternative:term "GCS" xsd:string property_value: alternative:term "GLCL" xsd:string property_value: alternative:term "GLCLC" xsd:string property_value: symbol "GCLC" xsd:string [Term] id: Orphanet:122062 name: glycine cleavage system protein H (aminomethyl carrier) xref: ENSEMBL:ENSG00000140905 xref: GENATLAS:GCSH xref: HGNC:4208 xref: OMIM:238330 xref: UNIPROTKB/SWISSPROT:P23434 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289857 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal glycine encephalopathy relationship: Orphanet:317343 Orphanet:289860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile glycine encephalopathy relationship: Orphanet:317343 Orphanet:289863 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atypical glycine encephalopathy property_value: alternative:term "lipoic acid-containing protein" xsd:string property_value: symbol "GCSH" xsd:string [Term] id: Orphanet:122064 name: ganglioside induced differentiation associated protein 1 xref: ENSEMBL:ENSG00000104381 xref: GENATLAS:GDAP1 xref: HGNC:15968 xref: OMIM:606598 xref: UNIPROTKB/SWISSPROT:Q8TB36 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101097 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive Charcot-Marie-Tooth disease with hoarseness relationship: Orphanet:317343 Orphanet:101102 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Charcot-Marie-Tooth disease type 2H relationship: Orphanet:317343 Orphanet:217055 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive intermediate Charcot-Marie-Tooth disease type A relationship: Orphanet:317343 Orphanet:99944 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Charcot-Marie-Tooth disease type 2K relationship: Orphanet:317343 Orphanet:99948 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Charcot-Marie-Tooth disease type 4A property_value: alternative:term "Charcot-Marie-Tooth neuropathy 4A" xsd:string property_value: alternative:term "CMT4" xsd:string property_value: alternative:term "CMT4A" xsd:string property_value: alternative:term "Ganglioside-induced differentiation-associated protein 1" xsd:string property_value: symbol "GDAP1" xsd:string [Term] id: Orphanet:122066 name: growth differentiation factor 5 xref: ENSEMBL:ENSG00000125965 xref: GENATLAS:GDF5 xref: HGNC:4220 xref: OMIM:601146 xref: REACTOME:P43026 xref: UNIPROTKB/SWISSPROT:P43026 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2098 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acromesomelic dysplasia, Grebe type relationship: Orphanet:317343 Orphanet:2639 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fibular aplasia - complex brachydactyly relationship: Orphanet:317343 Orphanet:3237 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple synostoses syndrome relationship: Orphanet:317343 Orphanet:3250 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Proximal symphalangism relationship: Orphanet:317343 Orphanet:63442 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Angel-shaped phalango-epiphyseal dysplasia relationship: Orphanet:317343 Orphanet:93384 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brachydactyly type C relationship: Orphanet:317343 Orphanet:93388 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brachydactyly type A1 relationship: Orphanet:317343 Orphanet:93396 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brachydactyly type A2 relationship: Orphanet:317343 Orphanet:968 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acromesomelic dysplasia, Hunter-Thomson type property_value: alternative:term "BMP14" xsd:string property_value: alternative:term "cartilage-derived morphogenetic protein-1" xsd:string property_value: alternative:term "CDMP1" xsd:string property_value: symbol "GDF5" xsd:string [Term] id: Orphanet:122069 name: GDP dissociation inhibitor 1 xref: ENSEMBL:ENSG00000203879 xref: GENATLAS:GDI1 xref: HGNC:4226 xref: OMIM:300104 xref: REACTOME:P31150 xref: UNIPROTKB/SWISSPROT:P31150 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit property_value: alternative:term "FLJ41411" xsd:string property_value: alternative:term "GDIL" xsd:string property_value: alternative:term "mental retardation, X-linked 41" xsd:string property_value: alternative:term "mental retardation, X-linked 48" xsd:string property_value: alternative:term "MRX41" xsd:string property_value: alternative:term "MRX48" xsd:string property_value: alternative:term "OPHN2" xsd:string property_value: alternative:term "rab GDP-dissociation inhibitor, alpha" xsd:string property_value: alternative:term "RABGDIA" xsd:string property_value: alternative:term "XAP-4" xsd:string property_value: symbol "GDI1" xsd:string [Term] id: Orphanet:122076 name: glial cell derived neurotrophic factor xref: ENSEMBL:ENSG00000168621 xref: GENATLAS:GDNF xref: HGNC:4232 xref: OMIM:600837 xref: REACTOME:P39905 xref: UNIPROTKB/SWISSPROT:P39905 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:661 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ondine syndrome relationship: Orphanet:317345 Orphanet:388 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hirschsprung disease property_value: alternative:term "astrocyte-derived trophic factor" xsd:string property_value: alternative:term "ATF1" xsd:string property_value: alternative:term "ATF2" xsd:string property_value: alternative:term "glial cell line derived neurotrophic factor" xsd:string property_value: alternative:term "glial derived neurotrophic factor" xsd:string property_value: alternative:term "HFB1-GDNF" xsd:string property_value: symbol "GDNF" xsd:string [Term] id: Orphanet:122078 name: glial fibrillary acidic protein xref: ENSEMBL:ENSG00000131095 xref: GENATLAS:GFAP xref: HGNC:4235 xref: OMIM:137780 xref: REACTOME:P14136 xref: UNIPROTKB/SWISSPROT:P14136 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363717 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alexander disease type I relationship: Orphanet:317343 Orphanet:363722 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alexander disease type II property_value: alternative:term "FLJ45472" xsd:string property_value: alternative:term "intermediate filament protein" xsd:string property_value: symbol "GFAP" xsd:string [Term] id: Orphanet:122080 name: growth factor independent 1 transcription repressor xref: ENSEMBL:ENSG00000162676 xref: GENATLAS:GFI1 xref: HGNC:4237 xref: OMIM:600871 xref: UNIPROTKB/SWISSPROT:Q99684 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:486 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant severe congenital neutropenia property_value: alternative:term "GFI-1" xsd:string property_value: alternative:term "GFI1A" xsd:string property_value: alternative:term "Growth factor independent 1" xsd:string property_value: alternative:term "ZNF163" xsd:string property_value: symbol "GFI1" xsd:string [Term] id: Orphanet:122083 name: gamma-glutamyl carboxylase xref: ENSEMBL:ENSG00000115486 xref: GENATLAS:GGCX xref: HGNC:4247 xref: IUPHAR:1268 xref: OMIM:137167 xref: REACTOME:P38435 xref: UNIPROTKB/SWISSPROT:P38435 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:91135 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency relationship: Orphanet:317343 Orphanet:98434 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary combined deficiency of vitamin K-dependent clotting factors property_value: alternative:term "vitamin K-dependent gamma-carboxylase" xsd:string property_value: alternative:term "VKCFD1" xsd:string property_value: symbol "GGCX" xsd:string [Term] id: Orphanet:122086 name: gamma-glutamyltransferase 1 xref: ENSEMBL:ENSG00000100031 xref: GENATLAS:GGT1 xref: HGNC:4250 xref: OMIM:612346 xref: REACTOME:P19440 xref: UNIPROTKB/SWISSPROT:P19440 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:33573 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gamma-glutamyl transpeptidase deficiency property_value: alternative:term "CD224" xsd:string property_value: alternative:term "D22S672" xsd:string property_value: alternative:term "D22S732" xsd:string property_value: alternative:term "GGT" xsd:string property_value: symbol "GGT1" xsd:string [Term] id: Orphanet:122092 name: growth hormone 1 xref: ENSEMBL:ENSG00000259384 xref: GENATLAS:GH1 xref: HGNC:4261 xref: OMIM:139250 xref: REACTOME:P01241 xref: UNIPROTKB/SWISSPROT:P01241 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231662 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated growth hormone deficiency type IA relationship: Orphanet:317343 Orphanet:231671 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated growth hormone deficiency type IB relationship: Orphanet:317343 Orphanet:231679 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated growth hormone deficiency type II relationship: Orphanet:317343 Orphanet:629 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Short stature due to growth hormone qualitative anomaly property_value: alternative:term "GH" xsd:string property_value: alternative:term "GH-N" xsd:string property_value: alternative:term "GHN" xsd:string property_value: alternative:term "hGH-N" xsd:string property_value: alternative:term "pituitary growth hormone" xsd:string property_value: alternative:term "somatotropin" xsd:string property_value: symbol "GH1" xsd:string [Term] id: Orphanet:122095 name: growth hormone receptor xref: ENSEMBL:ENSG00000112964 xref: GENATLAS:GHR xref: HGNC:4263 xref: IUPHAR:1720 xref: OMIM:600946 xref: REACTOME:P10912 xref: UNIPROTKB/SWISSPROT:P10912 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314802 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Short stature due to partial GHR deficiency relationship: Orphanet:317343 Orphanet:633 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Laron syndrome property_value: alternative:term "GHBP" xsd:string property_value: alternative:term "growth hormone binding protein" xsd:string property_value: symbol "GHR" xsd:string [Term] id: Orphanet:122097 name: growth hormone releasing hormone receptor xref: ENSEMBL:ENSG00000106128 xref: GENATLAS:GHRHR xref: HGNC:4266 xref: IUPHAR:247 xref: OMIM:139191 xref: REACTOME:Q02643 xref: UNIPROTKB/SWISSPROT:Q02643 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231671 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated growth hormone deficiency type IB property_value: symbol "GHRHR" xsd:string [Term] id: Orphanet:122099 name: gastric intrinsic factor (vitamin B synthesis) xref: ENSEMBL:ENSG00000134812 xref: GENATLAS:GIF xref: HGNC:4268 xref: OMIM:609342 xref: REACTOME:P27352 xref: UNIPROTKB/SWISSPROT:P27352 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:332 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital intrinsic factor deficiency property_value: alternative:term "IF" xsd:string property_value: alternative:term "IFMH" xsd:string property_value: alternative:term "INF" xsd:string property_value: alternative:term "TCN3" xsd:string property_value: symbol "GIF" xsd:string [Term] id: Orphanet:1221 name: Cheilitis glandularis xref: ICD10:K13.0 xref: MESH:C535921 xref: OMIM:118330 xref: SNOMED CT:26374003 xref: UMLS:C0267034 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:90077 ! Other acquired skin disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cheilitis glandularis (CG) is a rare acquired oral mucosal disease characterized by macrocheilia, caused by hyperplasia and swelling of the minor salivary glands, mucous and_or purulent secretion through enlarged excretory ductal orifice and variable degrees of inflammation." xsd:string [Term] id: Orphanet:122102 name: gap junction protein, alpha 1, 43kDa xref: ENSEMBL:ENSG00000152661 xref: GENATLAS:GJA1 xref: HGNC:4274 xref: OMIM:121014 xref: REACTOME:P17302 xref: UNIPROTKB/SWISSPROT:P17302 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1522 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Craniometaphyseal dysplasia relationship: Orphanet:317343 Orphanet:2710 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oculodentodigital dysplasia relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB relationship: Orphanet:317343 Orphanet:93404 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Syndactyly type 3 relationship: Orphanet:317345 Orphanet:2248 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypoplastic left heart syndrome property_value: alternative:term "connexin 43" xsd:string property_value: alternative:term "CX43" xsd:string property_value: alternative:term "gap junction protein, alpha 1, 43kDa (connexin 43)" xsd:string property_value: alternative:term "gap junction protein, alpha-like" xsd:string property_value: alternative:term "GJAL" xsd:string property_value: alternative:term "oculodentodigital dysplasia (syndactyly type III)" xsd:string property_value: alternative:term "ODD" xsd:string property_value: alternative:term "ODDD" xsd:string property_value: alternative:term "ODOD" xsd:string property_value: alternative:term "SDTY3" xsd:string property_value: symbol "GJA1" xsd:string [Term] id: Orphanet:122110 name: gap junction protein, gamma 2, 47kDa xref: ENSEMBL:ENSG00000198835 xref: GENATLAS:GJC2 xref: HGNC:17494 xref: OMIM:608803 xref: REACTOME:Q5T442 xref: UNIPROTKB/SWISSPROT:Q5T442 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280282 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pelizaeus-Merzbacher-like due to GJC2 mutation relationship: Orphanet:317343 Orphanet:320401 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 44 relationship: Orphanet:317343 Orphanet:79452 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Milroy disease property_value: alternative:term "connexin 47" xsd:string property_value: alternative:term "CX46.6" xsd:string property_value: alternative:term "CX47" xsd:string property_value: alternative:term "gap junction protein, alpha 12, 47kDa" xsd:string property_value: alternative:term "GJA12" xsd:string property_value: alternative:term "SPG44" xsd:string property_value: symbol "GJC2" xsd:string [Term] id: Orphanet:122114 name: gap junction protein, alpha 3, 46kDa xref: ENSEMBL:ENSG00000121743 xref: GENATLAS:GJA3 xref: HGNC:4277 xref: OMIM:121015 xref: REACTOME:Q9Y6H8 xref: UNIPROTKB/SWISSPROT:Q9Y6H8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98984 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pulverulent cataract relationship: Orphanet:317343 Orphanet:98986 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cataract, Coppock-like relationship: Orphanet:317343 Orphanet:98991 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nuclear cataract relationship: Orphanet:317343 Orphanet:98993 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Posterior polar cataract property_value: alternative:term "connexin 46" xsd:string property_value: alternative:term "CX46" xsd:string property_value: alternative:term "CZP3" xsd:string property_value: alternative:term "gap junction protein, alpha 3, 46kD (connexin 46)" xsd:string property_value: alternative:term "gap junction protein, alpha 3, 46kDa (connexin 46)" xsd:string property_value: symbol "GJA3" xsd:string [Term] id: Orphanet:122118 name: gap junction protein, alpha 8, 50kDa xref: ENSEMBL:ENSG00000121634 xref: GENATLAS:GJA8 xref: HGNC:4281 xref: OMIM:600897 xref: REACTOME:P48165 xref: UNIPROTKB/SWISSPROT:P48165 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1377 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cataract-microcornea syndrome relationship: Orphanet:317343 Orphanet:98984 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pulverulent cataract property_value: alternative:term "CAE" xsd:string property_value: alternative:term "CAE1" xsd:string property_value: alternative:term "connexin 50" xsd:string property_value: alternative:term "CX50" xsd:string property_value: alternative:term "CZP1" xsd:string property_value: alternative:term "gap junction protein, alpha 8, 50kD (connexin 50)" xsd:string property_value: alternative:term "gap junction protein, alpha 8, 50kDa (connexin 50)" xsd:string property_value: symbol "GJA8" xsd:string [Term] id: Orphanet:122124 name: gap junction protein, beta 1, 32kDa xref: ENSEMBL:ENSG00000169562 xref: GENATLAS:GJB1 xref: HGNC:4283 xref: OMIM:304040 xref: REACTOME:P08034 xref: UNIPROTKB/SWISSPROT:P08034 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101075 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked Charcot-Marie-Tooth disease type 1 relationship: Orphanet:317343 Orphanet:1175 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked progressive cerebellar ataxia property_value: alternative:term "Charcot-Marie-Tooth neuropathy, X-linked" xsd:string property_value: alternative:term "CMTX" xsd:string property_value: alternative:term "CMTX1" xsd:string property_value: alternative:term "connexin 32" xsd:string property_value: alternative:term "CX32" xsd:string property_value: alternative:term "gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)" xsd:string property_value: alternative:term "gap junction protein, beta 1, 32kDa (connexin 32)" xsd:string property_value: alternative:term "gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)" xsd:string property_value: symbol "GJB1" xsd:string [Term] id: Orphanet:122129 name: gap junction protein, beta 2, 26kDa xref: ENSEMBL:ENSG00000165474 xref: GENATLAS:GJB2 xref: HGNC:4284 xref: OMIM:121011 xref: REACTOME:P29033 xref: UNIPROTKB/SWISSPROT:P29033 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2202 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Palmoplantar keratoderma-deafness syndrome relationship: Orphanet:317343 Orphanet:2698 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome relationship: Orphanet:317343 Orphanet:330029 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypotrichosis-deafness syndrome relationship: Orphanet:317343 Orphanet:477 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! KID syndrome relationship: Orphanet:317343 Orphanet:494 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Keratoderma hereditarium mutilans relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB relationship: Orphanet:317344 Orphanet:166286 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Porokeratotic eccrine ostial and dermal duct nevus property_value: alternative:term "connexin 26" xsd:string property_value: alternative:term "CX26" xsd:string property_value: alternative:term "DFNA3" xsd:string property_value: alternative:term "DFNB1" xsd:string property_value: alternative:term "gap junction protein, beta 2, 26kD (connexin 26)" xsd:string property_value: alternative:term "gap junction protein, beta 2, 26kDa (connexin 26)" xsd:string property_value: alternative:term "NSRD1" xsd:string property_value: symbol "GJB2" xsd:string [Term] id: Orphanet:122135 name: gap junction protein, beta 3, 31kDa xref: ENSEMBL:ENSG00000188910 xref: GENATLAS:GJB3 xref: HGNC:4285 xref: OMIM:603324 xref: REACTOME:O75712 xref: UNIPROTKB/SWISSPROT:O75712 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:139512 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neuropathy with hearing impairment relationship: Orphanet:317343 Orphanet:317 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Erythrokeratodermia variabilis relationship: Orphanet:317343 Orphanet:495 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Transgrediens et progrediens palmoplantar keratoderma relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "connexin 31" xsd:string property_value: alternative:term "CX31" xsd:string property_value: alternative:term "DFNA2" xsd:string property_value: alternative:term "EKV" xsd:string property_value: alternative:term "erythrokeratodermia variabilis" xsd:string property_value: alternative:term "gap junction protein, beta 3, 31kD (connexin 31)" xsd:string property_value: alternative:term "gap junction protein, beta 3, 31kDa (connexin 31)" xsd:string property_value: symbol "GJB3" xsd:string [Term] id: Orphanet:122139 name: gap junction protein, beta 4, 30.3kDa xref: ENSEMBL:ENSG00000189433 xref: GENATLAS:GJB4 xref: HGNC:4286 xref: OMIM:605425 xref: REACTOME:Q9NTQ9 xref: UNIPROTKB/SWISSPROT:Q9NTQ9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:317 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Erythrokeratodermia variabilis property_value: alternative:term "connexin 30.3" xsd:string property_value: alternative:term "CX30.3" xsd:string property_value: alternative:term "Gap junction protein, beta 4" xsd:string property_value: alternative:term "gap junction protein, beta 4 (connexin 30.3)" xsd:string property_value: symbol "GJB4" xsd:string [Term] id: Orphanet:122142 name: gap junction protein, beta 6, 30kDa xref: ENSEMBL:ENSG00000121742 xref: GENATLAS:GJB6 xref: HGNC:4288 xref: OMIM:604418 xref: REACTOME:O95452 xref: UNIPROTKB/SWISSPROT:O95452 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:189 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hidrotic ectodermal dysplasia relationship: Orphanet:317343 Orphanet:477 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! KID syndrome relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "connexin 30" xsd:string property_value: alternative:term "CX30" xsd:string property_value: alternative:term "DFNA3" xsd:string property_value: alternative:term "ectodermal dysplasia 2, hidrotic (Clouston syndrome)" xsd:string property_value: alternative:term "ED2" xsd:string property_value: alternative:term "EDH" xsd:string property_value: alternative:term "Gap junction protein, beta 6" xsd:string property_value: alternative:term "gap junction protein, beta 6 (connexin 30)" xsd:string property_value: alternative:term "HED" xsd:string property_value: symbol "GJB6" xsd:string [Term] id: Orphanet:122149 name: glycerol kinase xref: ENSEMBL:ENSG00000198814 xref: GENATLAS:GK xref: HGNC:4289 xref: OMIM:300474 xref: REACTOME:P32189 xref: UNIPROTKB/SWISSPROT:P32189 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:284408 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycerol kinase deficiency, infantile form relationship: Orphanet:317343 Orphanet:284411 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycerol kinase deficiency, juvenile form relationship: Orphanet:317343 Orphanet:284414 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycerol kinase deficiency, adult form property_value: alternative:term "GK1" xsd:string property_value: alternative:term "GKD" xsd:string property_value: symbol "GK" xsd:string [Term] id: Orphanet:122153 name: galactosidase, alpha xref: ENSEMBL:ENSG00000102393 xref: GENATLAS:GLA xref: HGNC:4296 xref: OMIM:300644 xref: REACTOME:P06280 xref: UNIPROTKB/SWISSPROT:P06280 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:324 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fabry disease property_value: alternative:term "GALA" xsd:string property_value: symbol "GLA" xsd:string [Term] id: Orphanet:122156 name: galactosidase, beta 1 xref: ENSEMBL:ENSG00000170266 xref: GENATLAS:GLB1 xref: HGNC:4298 xref: OMIM:611458 xref: REACTOME:P16278 xref: UNIPROTKB/SWISSPROT:P16278 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:309310 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mucopolysaccharidosis type 4B relationship: Orphanet:317343 Orphanet:79255 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! GM1 gangliosidosis type 1 relationship: Orphanet:317343 Orphanet:79256 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! GM1 gangliosidosis type 2 relationship: Orphanet:317343 Orphanet:79257 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! GM1 gangliosidosis type 3 property_value: alternative:term "EBP" xsd:string property_value: alternative:term "elastin receptor 1 (67kD)" xsd:string property_value: alternative:term "elastin receptor 1, 67kDa" xsd:string property_value: alternative:term "ELNR1" xsd:string property_value: symbol "GLB1" xsd:string [Term] id: Orphanet:122160 name: glycine dehydrogenase (decarboxylating) xref: ENSEMBL:ENSG00000178445 xref: GENATLAS:GLDC xref: HGNC:4313 xref: OMIM:238300 xref: UNIPROTKB/SWISSPROT:P23378 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289857 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal glycine encephalopathy relationship: Orphanet:317343 Orphanet:289860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile glycine encephalopathy relationship: Orphanet:317343 Orphanet:289863 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atypical glycine encephalopathy property_value: alternative:term "GCSP" xsd:string property_value: alternative:term "glycine cleavage system protein P" xsd:string property_value: alternative:term "glycine decarboxylase" xsd:string property_value: alternative:term "glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)" xsd:string property_value: alternative:term "NKH" xsd:string property_value: symbol "GLDC" xsd:string [Term] id: Orphanet:122167 name: GLI family zinc finger 3 xref: ENSEMBL:ENSG00000106571 xref: GENATLAS:GLI3 xref: HGNC:4319 xref: OMIM:165240 xref: UNIPROTKB/SWISSPROT:P10071 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:295159 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Polysyndactyly, unilateral relationship: Orphanet:317343 Orphanet:295161 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Polysyndactyly, bilateral relationship: Orphanet:317343 Orphanet:295163 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Postaxial polydactyly type A, unilateral relationship: Orphanet:317343 Orphanet:295165 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Postaxial polydactyly type A, bilateral relationship: Orphanet:317343 Orphanet:295167 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Postaxial polydactyly type B, unilateral relationship: Orphanet:317343 Orphanet:295169 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Postaxial polydactyly type B, bilateral relationship: Orphanet:317343 Orphanet:36 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acrocallosal syndrome relationship: Orphanet:317343 Orphanet:380 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Greig cephalopolysyndactyly syndrome relationship: Orphanet:317343 Orphanet:672 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pallister-Hall syndrome property_value: alternative:term "ACLS" xsd:string property_value: alternative:term "DNA-binding protein" xsd:string property_value: alternative:term "GCPS" xsd:string property_value: alternative:term "GLI-Kruppel family member GLI3" xsd:string property_value: alternative:term "GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome)" xsd:string property_value: alternative:term "glioma-associated oncogene family zinc finger 3" xsd:string property_value: alternative:term "Greig cephalopolysyndactyly syndrome" xsd:string property_value: alternative:term "oncogene GLI3" xsd:string property_value: alternative:term "PAP-A" xsd:string property_value: alternative:term "PAPA" xsd:string property_value: alternative:term "PAPA1" xsd:string property_value: alternative:term "PAPB" xsd:string property_value: alternative:term "PHS" xsd:string property_value: alternative:term "PPDIV" xsd:string property_value: alternative:term "zinc finger protein GLI3" xsd:string property_value: symbol "GLI3" xsd:string [Term] id: Orphanet:122172 name: glomulin, FKBP associated protein xref: ENSEMBL:ENSG00000174842 xref: GENATLAS:GLMN xref: HGNC:14373 xref: OMIM:601749 xref: UNIPROTKB/SWISSPROT:Q92990 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:83454 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glomuvenous malformation property_value: alternative:term "FAP48" xsd:string property_value: alternative:term "FKBPAP" xsd:string property_value: alternative:term "GLML" xsd:string property_value: alternative:term "GVM" xsd:string property_value: alternative:term "venous malformation with glomus cells" xsd:string property_value: alternative:term "VMGLOM" xsd:string property_value: symbol "GLMN" xsd:string [Term] id: Orphanet:122179 name: glycine receptor, alpha 1 xref: ENSEMBL:ENSG00000145888 xref: GENATLAS:GLRA1 xref: HGNC:4326 xref: IUPHAR:423 xref: OMIM:138491 xref: REACTOME:P23415 xref: UNIPROTKB/SWISSPROT:P23415 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3197 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary hyperekplexia property_value: alternative:term "Glycine receptor, alpha 1 (startle disease/hyperekplexia)" xsd:string property_value: alternative:term "startle disease/hyperekplexia" xsd:string property_value: alternative:term "STHE" xsd:string property_value: alternative:term "stiff person syndrome" xsd:string property_value: symbol "GLRA1" xsd:string [Term] id: Orphanet:122182 name: glycine receptor, beta xref: ENSEMBL:ENSG00000109738 xref: GENATLAS:GLRB xref: HGNC:4329 xref: IUPHAR:427 xref: OMIM:138492 xref: REACTOME:P48167 xref: UNIPROTKB/SWISSPROT:P48167 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3197 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary hyperekplexia property_value: symbol "GLRB" xsd:string [Term] id: Orphanet:122188 name: glutamate dehydrogenase 1 xref: ENSEMBL:ENSG00000148672 xref: GENATLAS:GLUD1 xref: HGNC:4335 xref: OMIM:138130 xref: REACTOME:P00367 xref: UNIPROTKB/SWISSPROT:P00367 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:35878 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperinsulinism-hyperammonemia syndrome property_value: alternative:term "GDH" xsd:string property_value: alternative:term "GLUD" xsd:string property_value: symbol "GLUD1" xsd:string [Term] id: Orphanet:122192 name: GM2 ganglioside activator xref: ENSEMBL:ENSG00000196743 xref: GENATLAS:GM2A xref: HGNC:4367 xref: OMIM:613109 xref: REACTOME:P17900 xref: UNIPROTKB/SWISSPROT:P17900 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:309246 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! GM2-gangliosidosis, AB variant property_value: alternative:term "cerebroside sulfate activator protein" xsd:string property_value: alternative:term "GM2 ganglioside activator protein" xsd:string property_value: alternative:term "SAP-3" xsd:string property_value: alternative:term "sphingolipid activator protein 3" xsd:string property_value: symbol "GM2A" xsd:string [Term] id: Orphanet:122194 name: GNAS complex locus xref: ENSEMBL:ENSG00000087460 xref: GENATLAS:GNAS xref: HGNC:4392 xref: OMIM:139320 xref: UNIPROTKB/SWISSPROT:P63092 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2762 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive osseous heteroplasia relationship: Orphanet:317343 Orphanet:57782 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mazabraud syndrome relationship: Orphanet:317343 Orphanet:79443 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pseudohypoparathyroidism type 1A relationship: Orphanet:317343 Orphanet:79444 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pseudohypoparathyroidism type 1C relationship: Orphanet:317343 Orphanet:79445 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pseudopseudohypoparathyroidism relationship: Orphanet:317343 Orphanet:94089 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pseudohypoparathyroidism type 1B relationship: Orphanet:317344 Orphanet:562 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! McCune-Albright syndrome relationship: Orphanet:317344 Orphanet:93276 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Polyostotic fibrous dysplasia relationship: Orphanet:317344 Orphanet:93277 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Monostotic fibrous dysplasia property_value: alternative:term "GNAS1" xsd:string property_value: alternative:term "GNASXL" xsd:string property_value: alternative:term "GPSA" xsd:string property_value: alternative:term "guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1" xsd:string property_value: alternative:term "NESP" xsd:string property_value: alternative:term "NESP55" xsd:string property_value: alternative:term "SCG6" xsd:string property_value: alternative:term "secretogranin VI" xsd:string property_value: symbol "GNAS" xsd:string [Term] id: Orphanet:122202 name: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 xref: ENSEMBL:ENSG00000114349 xref: GENATLAS:GNAT1 xref: HGNC:4393 xref: OMIM:139330 xref: REACTOME:P11488 xref: UNIPROTKB/SWISSPROT:P11488 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:215 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital stationary night blindness property_value: symbol "GNAT1" xsd:string [Term] id: Orphanet:122204 name: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 xref: ENSEMBL:ENSG00000134183 xref: GENATLAS:GNAT2 xref: HGNC:4394 xref: OMIM:139340 xref: REACTOME:P19087 xref: UNIPROTKB/SWISSPROT:P19087 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1871 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive cone dystrophy relationship: Orphanet:317343 Orphanet:49382 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Achromatopsia property_value: alternative:term "ACHM4" xsd:string property_value: symbol "GNAT2" xsd:string [Term] id: Orphanet:122207 name: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase xref: ENSEMBL:ENSG00000159921 xref: GENATLAS:GNE xref: HGNC:23657 xref: OMIM:603824 xref: UNIPROTKB/SWISSPROT:Q9Y223 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3166 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sialuria relationship: Orphanet:317343 Orphanet:602 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Distal myopathy, Nonaka type property_value: alternative:term "IBM2" xsd:string property_value: alternative:term "Uae1" xsd:string property_value: alternative:term "UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase" xsd:string property_value: symbol "GNE" xsd:string [Term] id: Orphanet:122211 name: glyceronephosphate O-acyltransferase xref: ENSEMBL:ENSG00000116906 xref: GENATLAS:GNPAT xref: HGNC:4416 xref: OMIM:602744 xref: REACTOME:O15228 xref: UNIPROTKB/SWISSPROT:O15228 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:309796 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rhizomelic chondrodysplasia punctata type 2 property_value: alternative:term "DAP-AT" xsd:string property_value: alternative:term "DAPAT" xsd:string property_value: alternative:term "DHAPAT" xsd:string property_value: symbol "GNPAT" xsd:string [Term] id: Orphanet:122216 name: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits xref: ENSEMBL:ENSG00000111670 xref: GENATLAS:GNPTAB xref: HGNC:29670 xref: OMIM:607840 xref: UNIPROTKB/SWISSPROT:Q3T906 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:576 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mucolipidosis type 2 relationship: Orphanet:317343 Orphanet:577 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mucolipidosis type 3 property_value: alternative:term "GNPTA" xsd:string property_value: alternative:term "KIAA1208" xsd:string property_value: alternative:term "MGC4170" xsd:string property_value: symbol "GNPTAB" xsd:string [Term] id: Orphanet:122221 name: N-acetylglucosamine-1-phosphate transferase, gamma subunit xref: ENSEMBL:ENSG00000090581 xref: GENATLAS:GNPTG xref: HGNC:23026 xref: OMIM:607838 xref: UNIPROTKB/SWISSPROT:Q9UJJ9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:577 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mucolipidosis type 3 property_value: alternative:term "C16orf27" xsd:string property_value: alternative:term "c316G12.3" xsd:string property_value: alternative:term "CAB56184" xsd:string property_value: alternative:term "chromosome 16 open reading frame 27" xsd:string property_value: alternative:term "GlcNAc-phosphotransferase gamma-subunit" xsd:string property_value: alternative:term "GNPTAG" xsd:string property_value: alternative:term "N-acetylglucosamine-1-phosphotransferase, gamma subunit" xsd:string property_value: symbol "GNPTG" xsd:string [Term] id: Orphanet:122226 name: gonadotropin-releasing hormone receptor xref: ENSEMBL:ENSG00000109163 xref: GENATLAS:GNRHR xref: HGNC:4421 xref: IUPHAR:256 xref: OMIM:138850 xref: REACTOME:P30968 xref: UNIPROTKB/SWISSPROT:P30968 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:432 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Normosmic congenital hypogonadotropic hypogonadism property_value: alternative:term "GRHR" xsd:string property_value: alternative:term "LHRHR" xsd:string property_value: symbol "GNRHR" xsd:string [Term] id: Orphanet:122230 name: glucosamine (N-acetyl)-6-sulfatase xref: ENSEMBL:ENSG00000135677 xref: GENATLAS:GNS xref: HGNC:4422 xref: OMIM:607664 xref: REACTOME:P15586 xref: UNIPROTKB/SWISSPROT:P15586 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79272 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sanfilippo syndrome type D property_value: alternative:term "Glucosamine (N-acetyl)-6-sulfatase (Sanfilippo disease IIID)" xsd:string property_value: alternative:term "N-acetylglucosamine-6-sulfatase" xsd:string property_value: alternative:term "Sanfilippo disease IIID" xsd:string property_value: symbol "GNS" xsd:string [Term] id: Orphanet:122232 name: golgin A5 xref: ENSEMBL:ENSG00000066455 xref: GENATLAS:GOLGA5 xref: HGNC:4428 xref: OMIM:606918 xref: UNIPROTKB/SWISSPROT:Q8TBA6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Papillary or follicular thyroid carcinoma property_value: alternative:term "Golgi autoantigen, golgin subfamily a, 5" xsd:string property_value: alternative:term "golgi integral membrane protein 5" xsd:string property_value: alternative:term "golgin-84" xsd:string property_value: alternative:term "GOLIM5" xsd:string property_value: alternative:term "ret-II" xsd:string property_value: alternative:term "rfg5" xsd:string property_value: symbol "GOLGA5" xsd:string [Term] id: Orphanet:122237 name: glycoprotein Ib (platelet), alpha polypeptide xref: ENSEMBL:ENSG00000185245 xref: GENATLAS:GP1BA xref: HGNC:4439 xref: OMIM:606672 xref: REACTOME:P07359 xref: UNIPROTKB/SWISSPROT:P07359 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:274 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bernard-Soulier syndrome relationship: Orphanet:317343 Orphanet:52530 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Von Willebrand disease, platelet type relationship: Orphanet:327767 Orphanet:853 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Fetal and neonatal alloimmune thrombocytopenia property_value: alternative:term "CD42b" xsd:string property_value: alternative:term "GP1B" xsd:string property_value: symbol "GP1BA" xsd:string [Term] id: Orphanet:122241 name: glycoprotein Ib (platelet), beta polypeptide xref: ENSEMBL:ENSG00000203618 xref: GENATLAS:GP1BB xref: HGNC:4440 xref: OMIM:138720 xref: REACTOME:P13224 xref: UNIPROTKB/SWISSPROT:P13224 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:274 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bernard-Soulier syndrome relationship: Orphanet:317349 Orphanet:567 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 22q11.2 deletion syndrome relationship: Orphanet:327767 Orphanet:853 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Fetal and neonatal alloimmune thrombocytopenia property_value: alternative:term "CD42c" xsd:string property_value: symbol "GP1BB" xsd:string [Term] id: Orphanet:122244 name: glycoprotein IX (platelet) xref: ENSEMBL:ENSG00000169704 xref: GENATLAS:GP9 xref: HGNC:4444 xref: OMIM:173515 xref: REACTOME:P14770 xref: UNIPROTKB/SWISSPROT:P14770 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:274 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bernard-Soulier syndrome property_value: alternative:term "CD42a" xsd:string property_value: alternative:term "GPIX" xsd:string property_value: symbol "GP9" xsd:string [Term] id: Orphanet:122248 name: glypican 3 xref: ENSEMBL:ENSG00000147257 xref: GENATLAS:GPC3 xref: HGNC:4451 xref: OMIM:300037 xref: REACTOME:P51654 xref: UNIPROTKB/SWISSPROT:P51654 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:373 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Simpson-Golabi-Behmel syndrome property_value: alternative:term "DGSX" xsd:string property_value: alternative:term "glypican proteoglycan 3" xsd:string property_value: alternative:term "OCI-5" xsd:string property_value: alternative:term "SDYS" xsd:string property_value: alternative:term "SGB" xsd:string property_value: alternative:term "SGBS" xsd:string property_value: alternative:term "SGBS1" xsd:string property_value: symbol "GPC3" xsd:string [Term] id: Orphanet:122256 name: gephyrin xref: ENSEMBL:ENSG00000171723 xref: GENATLAS:GPHN xref: HGNC:15465 xref: OMIM:603930 xref: REACTOME:Q9NQX3 xref: UNIPROTKB/SWISSPROT:Q9NQX3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:308400 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C relationship: Orphanet:317343 Orphanet:3197 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary hyperekplexia property_value: alternative:term "KIAA1385" xsd:string property_value: symbol "GPHN" xsd:string [Term] id: Orphanet:122259 name: glucose-6-phosphate isomerase xref: ENSEMBL:ENSG00000105220 xref: GENATLAS:GPI xref: HGNC:4458 xref: OMIM:172400 xref: REACTOME:P06744 xref: UNIPROTKB/SWISSPROT:P06744 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:712 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemolytic anemia due to glucophosphate isomerase deficiency property_value: alternative:term "AMF" xsd:string property_value: alternative:term "Glucose phosphate isomerase" xsd:string property_value: alternative:term "NLK" xsd:string property_value: symbol "GPI" xsd:string [Term] id: Orphanet:122263 name: G protein-coupled receptor 143 xref: ENSEMBL:ENSG00000101850 xref: GENATLAS:GPR143 xref: HGNC:20145 xref: IUPHAR:203 xref: OMIM:300808 xref: UNIPROTKB/SWISSPROT:P51810 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:54 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked recessive ocular albinism property_value: alternative:term "OA1" xsd:string property_value: alternative:term "ocular albinism 1" xsd:string property_value: alternative:term "ocular albinism 1 (Nettleship-Falls)" xsd:string property_value: symbol "GPR143" xsd:string [Term] id: Orphanet:122266 name: G protein-coupled receptor 56 xref: ENSEMBL:ENSG00000205336 xref: GENATLAS:GPR56 xref: HGNC:4512 xref: IUPHAR:186 xref: OMIM:604110 xref: UNIPROTKB/SWISSPROT:Q9Y653 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101070 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bilateral frontoparietal polymicrogyria property_value: alternative:term "TM7LN4" xsd:string property_value: alternative:term "TM7XN1" xsd:string property_value: symbol "GPR56" xsd:string [Term] id: Orphanet:122270 name: G protein-coupled receptor 98 xref: ENSEMBL:ENSG00000164199 xref: GENATLAS:GPR98 xref: HGNC:17416 xref: IUPHAR:189 xref: OMIM:602851 xref: UNIPROTKB/SWISSPROT:Q8WXG9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231178 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Usher syndrome type 2 property_value: alternative:term "DKFZp761P0710" xsd:string property_value: alternative:term "FEB4" xsd:string property_value: alternative:term "KIAA0686" xsd:string property_value: alternative:term "MASS1" xsd:string property_value: alternative:term "monogenic, audiogenic seizure susceptibility 1 homolog (mouse)" xsd:string property_value: alternative:term "USH2C" xsd:string property_value: alternative:term "VLGR1b" xsd:string property_value: symbol "GPR98" xsd:string [Term] id: Orphanet:122278 name: glyoxylate reductase/hydroxypyruvate reductase xref: ENSEMBL:ENSG00000137106 xref: GENATLAS:GRHPR xref: HGNC:4570 xref: OMIM:604296 xref: REACTOME:Q9UBQ7 xref: UNIPROTKB/SWISSPROT:Q9UBQ7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93599 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary hyperoxaluria type 2 property_value: alternative:term "GLXR" xsd:string property_value: alternative:term "PH2" xsd:string property_value: alternative:term "primary hyperoxaluria type 2" xsd:string property_value: symbol "GRHPR" xsd:string [Term] id: Orphanet:122282 name: glutamate receptor, ionotropic, AMPA 3 xref: ENSEMBL:ENSG00000125675 xref: GENATLAS:GRIA3 xref: HGNC:4573 xref: IUPHAR:446 xref: OMIM:305915 xref: REACTOME:P42263 xref: UNIPROTKB/SWISSPROT:P42263 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:364028 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked intellectual disability due to GRIA3 anomalies property_value: alternative:term "GluA3" xsd:string property_value: alternative:term "GLUR3" xsd:string property_value: alternative:term "GLURC" xsd:string property_value: alternative:term "Glutamate receptor, ionotrophic, AMPA 3" xsd:string property_value: alternative:term "MRX94" xsd:string property_value: symbol "GRIA3" xsd:string [Term] id: Orphanet:122286 name: G protein-coupled receptor kinase 1 xref: ENSEMBL:ENSG00000185974 xref: GENATLAS:GRK1 xref: HGNC:10013 xref: IUPHAR:1465 xref: OMIM:180381 xref: REACTOME:Q15835 xref: UNIPROTKB/SWISSPROT:Q15835 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:75382 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oguchi disease property_value: alternative:term "GPRK1" xsd:string property_value: alternative:term "rhodopsin kinase" xsd:string property_value: alternative:term "RHOK" xsd:string property_value: alternative:term "RK" xsd:string property_value: symbol "GRK1" xsd:string [Term] id: Orphanet:122291 name: glutamate receptor, metabotropic 6 xref: ENSEMBL:ENSG00000113262 xref: GENATLAS:GRM6 xref: HGNC:4598 xref: IUPHAR:294 xref: OMIM:604096 xref: REACTOME:O15303 xref: UNIPROTKB/SWISSPROT:O15303 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:215 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital stationary night blindness property_value: alternative:term "GPRC1F" xsd:string property_value: alternative:term "mGlu6" xsd:string property_value: alternative:term "MGLUR6" xsd:string property_value: symbol "GRM6" xsd:string [Term] id: Orphanet:122296 name: gelsolin xref: ENSEMBL:ENSG00000148180 xref: GENATLAS:GSN xref: HGNC:4620 xref: OMIM:137350 xref: REACTOME:P06396 xref: UNIPROTKB/SWISSPROT:P06396 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:85448 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial amyloidosis, Finnish type property_value: alternative:term "amyloidosis, Finnish type" xsd:string property_value: alternative:term "DKFZp313L0718" xsd:string property_value: alternative:term "Gelsolin (amyloidosis, Finnish type)" xsd:string property_value: symbol "GSN" xsd:string [Term] id: Orphanet:122298 name: glutathione reductase xref: ENSEMBL:ENSG00000104687 xref: GENATLAS:GSR xref: HGNC:4623 xref: IUPHAR:2613 xref: OMIM:138300 xref: REACTOME:P00390 xref: UNIPROTKB/SWISSPROT:P00390 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90030 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemolytic anemia due to glutathione reductase deficiency property_value: symbol "GSR" xsd:string [Term] id: Orphanet:1223 name: Balantidiasis xref: ICD10:A07.0 xref: MEDDRA:10004080 xref: MESH:C531629 xref: MESH:D001447 xref: SNOMED CT:105638003 xref: SNOMED CT:56722001 xref: SNOMED CT:57725006 xref: UMLS:C0004692 xref: UMLS:C0276786 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease property_value: alternative:term "Balantidiosis" xsd:string property_value: alternative:term "Ciliary dysentery" xsd:string [Term] id: Orphanet:122300 name: glutathione synthetase xref: ENSEMBL:ENSG00000100983 xref: GENATLAS:GSS xref: HGNC:4624 xref: OMIM:601002 xref: REACTOME:P48637 xref: UNIPROTKB/SWISSPROT:P48637 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289846 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glutathione synthetase deficiency with 5-oxoprolinuria relationship: Orphanet:317343 Orphanet:289849 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glutathione synthetase deficiency without 5-oxoprolinuria property_value: symbol "GSS" xsd:string [Term] id: Orphanet:122302 name: general transcription factor IIH, polypeptide 5 xref: ENSEMBL:ENSG00000272047 xref: GENATLAS:GTF2H5 xref: HGNC:21157 xref: OMIM:608780 xref: UNIPROTKB/SWISSPROT:Q6ZYL4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:33364 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Trichothiodystrophy property_value: alternative:term "bA120J8.2" xsd:string property_value: alternative:term "C6orf175" xsd:string property_value: alternative:term "chromosome 6 open reading frame 175" xsd:string property_value: alternative:term "DNA repair syndrome trichothiodystrophy group A" xsd:string property_value: alternative:term "FLJ30544" xsd:string property_value: alternative:term "TFB5" xsd:string property_value: alternative:term "TFIIH" xsd:string property_value: alternative:term "trichothiodystrophy" xsd:string property_value: alternative:term "TTD" xsd:string property_value: alternative:term "TTD-A" xsd:string property_value: symbol "GTF2H5" xsd:string [Term] id: Orphanet:122310 name: general transcription factor IIi xref: ENSEMBL:ENSG00000077809 xref: GENATLAS:GTF2I xref: HGNC:4659 xref: OMIM:601679 xref: UNIPROTKB/SWISSPROT:P78347 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Williams syndrome property_value: alternative:term "BAP-135" xsd:string property_value: alternative:term "BTKAP1" xsd:string property_value: alternative:term "DIWS" xsd:string property_value: alternative:term "General transcription factor II, i" xsd:string property_value: alternative:term "IB291" xsd:string property_value: alternative:term "SPIN" xsd:string property_value: alternative:term "TFII-I" xsd:string property_value: alternative:term "WBSCR6" xsd:string property_value: symbol "GTF2I" xsd:string [Term] id: Orphanet:122319 name: GTF2I repeat domain containing 1 xref: ENSEMBL:ENSG00000006704 xref: GENATLAS:GTF2IRD1 xref: HGNC:4661 xref: OMIM:604318 xref: UNIPROTKB/SWISSPROT:Q9UHL9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Williams syndrome property_value: alternative:term "BEN" xsd:string property_value: alternative:term "binding factor for early enhancer" xsd:string property_value: alternative:term "Cream1" xsd:string property_value: alternative:term "GTF2I repeat domain-containing 1" xsd:string property_value: alternative:term "GTF3" xsd:string property_value: alternative:term "MusTRD1" xsd:string property_value: alternative:term "RBAP2" xsd:string property_value: alternative:term "WBSCR11" xsd:string property_value: alternative:term "WBSCR12" xsd:string property_value: symbol "GTF2IRD1" xsd:string [Term] id: Orphanet:122333 name: guanylate cyclase activator 1A (retina) xref: ENSEMBL:ENSG00000048545 xref: GENATLAS:GUCA1A xref: HGNC:4678 xref: OMIM:600364 xref: REACTOME:P43080 xref: UNIPROTKB/SWISSPROT:P43080 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1871 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive cone dystrophy relationship: Orphanet:317343 Orphanet:1872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone rod dystrophy property_value: alternative:term "C6orf131" xsd:string property_value: alternative:term "chromosome 6 open reading frame 131" xsd:string property_value: alternative:term "COD3" xsd:string property_value: alternative:term "cone dystrophy 3" xsd:string property_value: alternative:term "CORD14" xsd:string property_value: alternative:term "dJ139D8.6" xsd:string property_value: alternative:term "GCAP" xsd:string property_value: alternative:term "GCAP1" xsd:string property_value: alternative:term "GUCA" xsd:string property_value: alternative:term "GUCA1" xsd:string property_value: symbol "GUCA1A" xsd:string [Term] id: Orphanet:122340 name: guanylate cyclase 2D, membrane (retina-specific) xref: ENSEMBL:ENSG00000132518 xref: GENATLAS:GUCY2D xref: HGNC:4689 xref: IUPHAR:2031 xref: OMIM:600179 xref: REACTOME:Q02846 xref: UNIPROTKB/SWISSPROT:Q02846 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone rod dystrophy relationship: Orphanet:317343 Orphanet:65 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber congenital amaurosis relationship: Orphanet:317343 Orphanet:75377 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Central areolar choroidal dystrophy property_value: alternative:term "cone rod dystrophy 6" xsd:string property_value: alternative:term "CORD5" xsd:string property_value: alternative:term "CORD6" xsd:string property_value: alternative:term "CYGD" xsd:string property_value: alternative:term "GUC1A4" xsd:string property_value: alternative:term "GUC2D" xsd:string property_value: alternative:term "LCA" xsd:string property_value: alternative:term "LCA1" xsd:string property_value: alternative:term "retGC" xsd:string property_value: alternative:term "RETGC-1" xsd:string property_value: alternative:term "ROS-GC1" xsd:string property_value: symbol "GUCY2D" xsd:string [Term] id: Orphanet:122352 name: glucuronidase, beta xref: ENSEMBL:ENSG00000169919 xref: GENATLAS:GUSB xref: HGNC:4696 xref: OMIM:611499 xref: REACTOME:P08236 xref: UNIPROTKB/SWISSPROT:P08236 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:584 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mucopolysaccharidosis type 7 property_value: symbol "GUSB" xsd:string [Term] id: Orphanet:122354 name: glycogen synthase 2 (liver) xref: ENSEMBL:ENSG00000111713 xref: GENATLAS:GYS2 xref: HGNC:4707 xref: OMIM:138571 xref: REACTOME:P54840 xref: UNIPROTKB/SWISSPROT:P54840 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2089 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to hepatic glycogen synthase deficiency property_value: symbol "GYS2" xsd:string [Term] id: Orphanet:122356 name: hydroxyacyl-CoA dehydrogenase xref: ENSEMBL:ENSG00000138796 xref: GENATLAS:HADH xref: HGNC:4799 xref: OMIM:601609 xref: REACTOME:Q16836 xref: UNIPROTKB/SWISSPROT:Q16836 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:71212 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperinsulinism due to 3-hydroxylacyl-CoA dehydrogenase deficiency property_value: alternative:term "HADH1" xsd:string property_value: alternative:term "HADHSC" xsd:string property_value: alternative:term "Hydroxyacyl-Coenzyme A dehydrogenase" xsd:string property_value: alternative:term "L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain" xsd:string property_value: alternative:term "SCHAD" xsd:string property_value: symbol "HADH" xsd:string [Term] id: Orphanet:122361 name: histidine ammonia-lyase xref: ENSEMBL:ENSG00000084110 xref: GENATLAS:HAL xref: HGNC:4806 xref: OMIM:609457 xref: REACTOME:P42357 xref: UNIPROTKB/SWISSPROT:P42357 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2157 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Histidinemia property_value: alternative:term "HIS" xsd:string property_value: symbol "HAL" xsd:string [Term] id: Orphanet:122364 name: hepcidin antimicrobial peptide xref: ENSEMBL:ENSG00000105697 xref: GENATLAS:HAMP xref: HGNC:15598 xref: OMIM:606464 xref: UNIPROTKB/SWISSPROT:P81172 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79230 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemochromatosis type 2 property_value: alternative:term "HEPC" xsd:string property_value: alternative:term "HFE2B" xsd:string property_value: alternative:term "LEAP-1" xsd:string property_value: alternative:term "LEAP1" xsd:string property_value: symbol "HAMP" xsd:string [Term] id: Orphanet:122370 name: HCLS1 associated protein X-1 xref: ENSEMBL:ENSG00000143575 xref: GENATLAS:HAX1 xref: HGNC:16915 xref: OMIM:605998 xref: UNIPROTKB/SWISSPROT:O00165 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99749 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kostmann syndrome property_value: alternative:term "HCLS1 (and PKD2) associated protein" xsd:string property_value: alternative:term "HCLSBP1" xsd:string property_value: alternative:term "HS1BP1" xsd:string property_value: symbol "HAX1" xsd:string [Term] id: Orphanet:122374 name: hemoglobin, alpha 2 xref: ENSEMBL:ENSG00000188536 xref: GENATLAS:HBA2 xref: HGNC:4824 xref: OMIM:141850 xref: REACTOME:P69905 xref: UNIPROTKB/SWISSPROT:P69905 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:163596 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hb Bart's hydrops fetalis relationship: Orphanet:317343 Orphanet:330041 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant methemoglobinemia relationship: Orphanet:317343 Orphanet:93616 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemoglobin H disease relationship: Orphanet:317349 Orphanet:98791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 property_value: symbol "HBA2" xsd:string [Term] id: Orphanet:122376 name: hemoglobin, beta xref: ENSEMBL:ENSG00000244734 xref: GENATLAS:HBB xref: HGNC:4827 xref: OMIM:141900 xref: REACTOME:P68871 xref: UNIPROTKB/SWISSPROT:P68871 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178330 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Heinz body anemia relationship: Orphanet:317343 Orphanet:2132 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemoglobin C disease relationship: Orphanet:317343 Orphanet:2133 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemoglobin E disease relationship: Orphanet:317343 Orphanet:231214 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Beta-thalassemia major relationship: Orphanet:317343 Orphanet:231222 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Beta-thalassemia intermedia relationship: Orphanet:317343 Orphanet:231226 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dominant beta-thalassemia relationship: Orphanet:317343 Orphanet:231237 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Delta-beta-thalassemia relationship: Orphanet:317343 Orphanet:231242 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemoglobin C - beta-thalassemia relationship: Orphanet:317343 Orphanet:231249 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemoglobin E - beta-thalassemia relationship: Orphanet:317343 Orphanet:232 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sickle cell anemia relationship: Orphanet:317343 Orphanet:251359 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sickle cell - beta-thalassemia disease relationship: Orphanet:317343 Orphanet:251365 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sickle cell - hemoglobin C disease relationship: Orphanet:317343 Orphanet:251370 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sickle cell - hemoglobin D disease relationship: Orphanet:317343 Orphanet:251375 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sickle cell - hemoglobin E disease relationship: Orphanet:317343 Orphanet:251380 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary persistence of fetal hemoglobin - sickle cell disease relationship: Orphanet:317343 Orphanet:330041 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant methemoglobinemia relationship: Orphanet:317343 Orphanet:46532 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary persistence of fetal hemoglobin - beta-thalassemia relationship: Orphanet:317343 Orphanet:90039 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemoglobin D disease relationship: Orphanet:317348 Orphanet:330032 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemoglobin Lepore - beta-thalassemia property_value: alternative:term "beta-globin" xsd:string property_value: alternative:term "CD113t-C" xsd:string property_value: alternative:term "HBD" xsd:string property_value: symbol "HBB" xsd:string [Term] id: Orphanet:122378 name: holocytochrome c synthase xref: ENSEMBL:ENSG00000004961 xref: GENATLAS:HCCS xref: HGNC:4837 xref: OMIM:300056 xref: UNIPROTKB/SWISSPROT:P53701 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2556 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microphthalmia with linear skin defects syndrome property_value: alternative:term "CCHL" xsd:string property_value: alternative:term "cytochrome c heme-lyase" xsd:string property_value: alternative:term "Holocytochrome c synthase (cytochrome c heme-lyase)" xsd:string property_value: symbol "HCCS" xsd:string [Term] id: Orphanet:122381 name: hyperpolarization activated cyclic nucleotide-gated potassium channel 4 xref: ENSEMBL:ENSG00000138622 xref: GENATLAS:HCN4 xref: HGNC:16882 xref: IUPHAR:403 xref: OMIM:605206 xref: REACTOME:Q9Y3Q4 xref: UNIPROTKB/SWISSPROT:Q9Y3Q4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:130 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brugada syndrome relationship: Orphanet:317343 Orphanet:166282 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial sick sinus syndrome property_value: symbol "HCN4" xsd:string [Term] id: Orphanet:122383 name: hypocretin (orexin) neuropeptide precursor xref: ENSEMBL:ENSG00000161610 xref: GENATLAS:HCRT xref: HGNC:4847 xref: OMIM:602358 xref: REACTOME:O43612 xref: UNIPROTKB/SWISSPROT:O43612 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:2073 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Narcolepsy-cataplexy relationship: Orphanet:327767 Orphanet:83465 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Narcolepsy without cataplexy property_value: alternative:term "OX" xsd:string property_value: alternative:term "PPOX" xsd:string property_value: alternative:term "prepro-orexin" xsd:string property_value: symbol "HCRT" xsd:string [Term] id: Orphanet:122387 name: huntingtin xref: ENSEMBL:ENSG00000197386 xref: GENATLAS:HTT xref: HGNC:4851 xref: OMIM:613004 xref: UNIPROTKB/SWISSPROT:P42858 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:248111 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juvenile Huntington disease relationship: Orphanet:317343 Orphanet:399 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Huntington disease property_value: alternative:term "HD" xsd:string property_value: alternative:term "Huntingtin (Huntington disease)" xsd:string property_value: alternative:term "IT15" xsd:string property_value: symbol "HTT" xsd:string [Term] id: Orphanet:122391 name: histone deacetylase 9 xref: ENSEMBL:ENSG00000048052 xref: GENATLAS:HDAC9 xref: HGNC:14065 xref: IUPHAR:2620 xref: OMIM:606543 xref: REACTOME:Q9UKV0 xref: UNIPROTKB/SWISSPROT:Q9UKV0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:708 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Peters anomaly property_value: alternative:term "HD7" xsd:string property_value: alternative:term "HDAC" xsd:string property_value: alternative:term "HDAC7B" xsd:string property_value: alternative:term "KIAA0744" xsd:string property_value: alternative:term "MITR" xsd:string property_value: symbol "HDAC9" xsd:string [Term] id: Orphanet:122398 name: HESX homeobox 1 xref: ENSEMBL:ENSG00000163666 xref: GENATLAS:HESX1 xref: HGNC:4877 xref: OMIM:601802 xref: UNIPROTKB/SWISSPROT:Q9UBX0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:226307 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypothyroidism due to deficient transcription factors involved in pituitary development or function relationship: Orphanet:317343 Orphanet:3157 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Septo-optic dysplasia relationship: Orphanet:317343 Orphanet:478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kallmann syndrome relationship: Orphanet:317343 Orphanet:95494 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined pituitary hormone deficiencies, genetic forms relationship: Orphanet:317343 Orphanet:95496 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pituitary stalk interruption syndrome property_value: alternative:term "ANF" xsd:string property_value: alternative:term "homeobox, ES cell expressed 1" xsd:string property_value: alternative:term "RPX" xsd:string property_value: symbol "HESX1" xsd:string [Term] id: Orphanet:122402 name: hexosaminidase A (alpha polypeptide) xref: ENSEMBL:ENSG00000213614 xref: GENATLAS:HEXA xref: HGNC:4878 xref: OMIM:606869 xref: REACTOME:P06865 xref: UNIPROTKB/SWISSPROT:P06865 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:309178 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tay-Sachs disease, B variant, infantile form relationship: Orphanet:317343 Orphanet:309185 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tay-Sachs disease, B variant, juvenile form relationship: Orphanet:317343 Orphanet:309192 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tay-Sachs disease, B variant, adult form relationship: Orphanet:317343 Orphanet:309239 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tay-Sachs disease, B1 variant property_value: alternative:term "GM2 gangliosidosis" xsd:string property_value: alternative:term "Tay Sachs disease" xsd:string property_value: symbol "HEXA" xsd:string [Term] id: Orphanet:122404 name: hexosaminidase B (beta polypeptide) xref: ENSEMBL:ENSG00000049860 xref: GENATLAS:HEXB xref: HGNC:4879 xref: OMIM:606873 xref: REACTOME:P07686 xref: UNIPROTKB/SWISSPROT:P07686 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:309155 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sandhoff disease, infantile form relationship: Orphanet:317343 Orphanet:309162 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sandhoff disease, juvenile form relationship: Orphanet:317343 Orphanet:309169 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sandhoff disease, adult form property_value: symbol "HEXB" xsd:string [Term] id: Orphanet:122408 name: homogentisate 1,2-dioxygenase xref: ENSEMBL:ENSG00000113924 xref: GENATLAS:HGD xref: HGNC:4892 xref: OMIM:607474 xref: REACTOME:Q93099 xref: UNIPROTKB/SWISSPROT:Q93099 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:56 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alkaptonuria property_value: alternative:term "AKU" xsd:string property_value: alternative:term "HGO" xsd:string property_value: alternative:term "Homogentisate 1,2-dioxygenase (homogentisate oxidase)" xsd:string property_value: alternative:term "homogentisate oxidase" xsd:string property_value: symbol "HGD" xsd:string [Term] id: Orphanet:122412 name: heparan-alpha-glucosaminide N-acetyltransferase xref: ENSEMBL:ENSG00000165102 xref: GENATLAS:HGSNAT xref: HGNC:26527 xref: OMIM:610453 xref: UNIPROTKB/SWISSPROT:Q68CP4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79271 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sanfilippo syndrome type C property_value: alternative:term "FLJ32731" xsd:string property_value: alternative:term "HGNAT" xsd:string property_value: alternative:term "TMEM76" xsd:string property_value: alternative:term "transmembrane protein 76" xsd:string property_value: symbol "HGSNAT" xsd:string [Term] id: Orphanet:122417 name: hypermethylated in cancer 1 xref: ENSEMBL:ENSG00000177374 xref: GENATLAS:HIC1 xref: HGNC:4909 xref: OMIM:603825 xref: UNIPROTKB/SWISSPROT:Q14526 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:531 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Miller-Dieker syndrome property_value: alternative:term "ZBTB29" xsd:string property_value: alternative:term "ZNF901" xsd:string property_value: symbol "HIC1" xsd:string [Term] id: Orphanet:122420 name: hexokinase 1 xref: ENSEMBL:ENSG00000156515 xref: GENATLAS:HK1 xref: HGNC:4922 xref: OMIM:142600 xref: REACTOME:P19367 xref: UNIPROTKB/SWISSPROT:P19367 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90031 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Non-spherocytic hemolytic anemia due to hexokinase deficiency relationship: Orphanet:317343 Orphanet:99953 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Charcot-Marie-Tooth disease type 4G property_value: symbol "HK1" xsd:string [Term] id: Orphanet:122422 name: major histocompatibility complex, class I, B xref: ENSEMBL:ENSG00000234745 xref: GENATLAS:HLA-B xref: HGNC:4932 xref: OMIM:142830 xref: REACTOME:P01889 xref: UNIPROTKB/SWISSPROT:P30464 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:117 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Behçet disease relationship: Orphanet:317345 Orphanet:3287 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Takayasu arteritis relationship: Orphanet:317345 Orphanet:36426 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Stevens-Johnson syndrome property_value: alternative:term "ankylosing spondylitis" xsd:string property_value: alternative:term "AS" xsd:string property_value: symbol "HLA-B" xsd:string [Term] id: Orphanet:122424 name: major histocompatibility complex, class II, DR alpha xref: ENSEMBL:ENSG00000204287 xref: GENATLAS:HLA-DRA xref: HGNC:4947 xref: OMIM:142860 xref: REACTOME:P01903 xref: UNIPROTKB/SWISSPROT:P01903 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:505 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Graham Little-Piccardi-Lassueur syndrome property_value: alternative:term "HLA-DRA1" xsd:string property_value: symbol "HLA-DRA" xsd:string [Term] id: Orphanet:122427 name: major histocompatibility complex, class II, DR beta 1 xref: ENSEMBL:ENSG00000196126 xref: GENATLAS:HLA-DRB1 xref: HGNC:4948 xref: OMIM:142857 xref: REACTOME:P04229 xref: UNIPROTKB/SWISSPROT:P04229 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:2073 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Narcolepsy-cataplexy relationship: Orphanet:317345 Orphanet:220393 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Diffuse cutaneous systemic sclerosis relationship: Orphanet:317345 Orphanet:220402 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Limited cutaneous systemic sclerosis relationship: Orphanet:317345 Orphanet:220407 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Limited systemic sclerosis relationship: Orphanet:317345 Orphanet:545 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Follicular lymphoma relationship: Orphanet:317345 Orphanet:797 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Sarcoidosis relationship: Orphanet:317345 Orphanet:83465 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Narcolepsy without cataplexy relationship: Orphanet:317345 Orphanet:93567 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Pediatric systemic sclerosis relationship: Orphanet:327767 Orphanet:703 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Bullous pemphigoid property_value: alternative:term "HLA-DR1B" xsd:string property_value: symbol "HLA-DRB1" xsd:string [Term] id: Orphanet:122430 name: holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) xref: ENSEMBL:ENSG00000159267 xref: GENATLAS:HLCS xref: HGNC:4976 xref: OMIM:609018 xref: REACTOME:P50747 xref: UNIPROTKB/SWISSPROT:P50747 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79242 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Holocarboxylase synthetase deficiency property_value: alternative:term "HCS" xsd:string property_value: alternative:term "Holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)" xsd:string property_value: alternative:term "holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)" xsd:string property_value: symbol "HLCS" xsd:string [Term] id: Orphanet:122438 name: hydroxymethylbilane synthase xref: ENSEMBL:ENSG00000256269 xref: GENATLAS:HMBS xref: HGNC:4982 xref: OMIM:609806 xref: REACTOME:P08397 xref: UNIPROTKB/SWISSPROT:P08397 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79276 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute intermittent porphyria property_value: alternative:term "PBGD" xsd:string property_value: alternative:term "PORC" xsd:string property_value: alternative:term "porphobilinogen deaminase" xsd:string property_value: alternative:term "porphyria, acute; Chester type" xsd:string property_value: alternative:term "UPS" xsd:string property_value: alternative:term "uroporphyrinogen I synthase" xsd:string property_value: symbol "HMBS" xsd:string [Term] id: Orphanet:122447 name: 3-hydroxymethyl-3-methylglutaryl-CoA lyase xref: ENSEMBL:ENSG00000117305 xref: GENATLAS:HMGCL xref: HGNC:5005 xref: OMIM:613898 xref: REACTOME:P35914 xref: UNIPROTKB/SWISSPROT:P35914 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:20 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 3-hydroxy-3-methylglutaric aciduria property_value: alternative:term "3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase" xsd:string property_value: alternative:term "3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)" xsd:string property_value: alternative:term "HL" xsd:string property_value: alternative:term "hydroxymethylglutaricaciduria" xsd:string property_value: symbol "HMGCL" xsd:string [Term] id: Orphanet:122453 name: 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) xref: ENSEMBL:ENSG00000134240 xref: GENATLAS:HMGCS2 xref: HGNC:5008 xref: IUPHAR:2432 xref: OMIM:600234 xref: REACTOME:P54868 xref: UNIPROTKB/SWISSPROT:P54868 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:35701 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 3-hydroxy-3-methylglutaryl-CoA synthase deficiency property_value: alternative:term "3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)" xsd:string property_value: symbol "HMGCS2" xsd:string [Term] id: Orphanet:122455 name: hepatocyte nuclear factor 4, alpha xref: ENSEMBL:ENSG00000101076 xref: GENATLAS:HNF4A xref: HGNC:5024 xref: IUPHAR:608 xref: OMIM:600281 xref: REACTOME:P41235 xref: UNIPROTKB/SWISSPROT:P41235 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:263455 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperinsulinism due to HNF4A deficiency relationship: Orphanet:317343 Orphanet:552 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MODY syndrome property_value: alternative:term "HNF4" xsd:string property_value: alternative:term "MODY" xsd:string property_value: alternative:term "MODY1" xsd:string property_value: alternative:term "NR2A1" xsd:string property_value: alternative:term "TCF14" xsd:string property_value: symbol "HNF4A" xsd:string [Term] id: Orphanet:122462 name: homeobox A13 xref: ENSEMBL:ENSG00000106031 xref: GENATLAS:HOXA13 xref: HGNC:5102 xref: OMIM:142959 xref: UNIPROTKB/SWISSPROT:P31271 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2438 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hand-foot-genital syndrome relationship: Orphanet:317343 Orphanet:2957 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Guttmacher syndrome property_value: alternative:term "homeo box A13" xsd:string property_value: alternative:term "HOX1" xsd:string property_value: alternative:term "HOX1J" xsd:string property_value: symbol "HOXA13" xsd:string [Term] id: Orphanet:122466 name: homeobox D13 xref: ENSEMBL:ENSG00000128714 xref: GENATLAS:HOXD13 xref: HGNC:5136 xref: OMIM:142989 xref: UNIPROTKB/SWISSPROT:P35453 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:295195 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Synpolydactyly type 1 relationship: Orphanet:317343 Orphanet:93387 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brachydactyly type E relationship: Orphanet:317343 Orphanet:93406 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Syndactyly type 5 relationship: Orphanet:317343 Orphanet:93409 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brachydactyly-syndactyly, Zhao type relationship: Orphanet:317345 Orphanet:887 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! VACTERL/VATER association property_value: alternative:term "homeo box D13" xsd:string property_value: alternative:term "HOX4I" xsd:string property_value: alternative:term "SPD" xsd:string property_value: symbol "HOXD13" xsd:string [Term] id: Orphanet:122470 name: 4-hydroxyphenylpyruvate dioxygenase xref: ENSEMBL:ENSG00000158104 xref: GENATLAS:HPD xref: HGNC:5147 xref: IUPHAR:2621 xref: OMIM:609695 xref: REACTOME:P32754 xref: UNIPROTKB/SWISSPROT:P32754 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2118 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hawkinsinuria relationship: Orphanet:317343 Orphanet:69723 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tyrosinemia type 3 property_value: alternative:term "4-HPPD" xsd:string property_value: alternative:term "4HPPD" xsd:string property_value: alternative:term "GLOD3" xsd:string property_value: alternative:term "glyoxalase domain containing 3" xsd:string property_value: alternative:term "PPD" xsd:string property_value: symbol "HPD" xsd:string [Term] id: Orphanet:122476 name: hypoxanthine phosphoribosyltransferase 1 xref: ENSEMBL:ENSG00000165704 xref: GENATLAS:HPRT1 xref: HGNC:5157 xref: OMIM:308000 xref: REACTOME:P00492 xref: UNIPROTKB/SWISSPROT:P00492 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:510 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lesch-Nyhan syndrome relationship: Orphanet:317343 Orphanet:79233 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kelley-Seegmiller syndrome property_value: alternative:term "HGPRT" xsd:string property_value: alternative:term "HPRT" xsd:string property_value: alternative:term "Hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)" xsd:string property_value: alternative:term "Lesch-Nyhan syndrome" xsd:string property_value: symbol "HPRT1" xsd:string [Term] id: Orphanet:122480 name: Hermansky-Pudlak syndrome 1 xref: ENSEMBL:ENSG00000107521 xref: GENATLAS:HPS1 xref: HGNC:5163 xref: OMIM:604982 xref: UNIPROTKB/SWISSPROT:Q92902 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231500 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hermansky-Pudlak syndrome with pulmonary fibrosis property_value: alternative:term "Hermansky-Pudlak syndrome" xsd:string property_value: alternative:term "HPS" xsd:string property_value: symbol "HPS1" xsd:string [Term] id: Orphanet:122483 name: Hermansky-Pudlak syndrome 3 xref: ENSEMBL:ENSG00000163755 xref: GENATLAS:HPS3 xref: HGNC:15597 xref: OMIM:606118 xref: UNIPROTKB/SWISSPROT:Q969F9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231512 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hermansky-Pudlak syndrome without pulmonary fibrosis property_value: alternative:term "SUTAL" xsd:string property_value: symbol "HPS3" xsd:string [Term] id: Orphanet:122486 name: Hermansky-Pudlak syndrome 4 xref: ENSEMBL:ENSG00000100099 xref: GENATLAS:HPS4 xref: HGNC:15844 xref: OMIM:606682 xref: UNIPROTKB/SWISSPROT:Q9NQG7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231500 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hermansky-Pudlak syndrome with pulmonary fibrosis property_value: alternative:term "KIAA1667" xsd:string property_value: alternative:term "LE" xsd:string property_value: symbol "HPS4" xsd:string [Term] id: Orphanet:122490 name: Hermansky-Pudlak syndrome 5 xref: ENSEMBL:ENSG00000110756 xref: GENATLAS:HPS5 xref: HGNC:17022 xref: OMIM:607521 xref: UNIPROTKB/SWISSPROT:Q9UPZ3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231512 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hermansky-Pudlak syndrome without pulmonary fibrosis property_value: symbol "HPS5" xsd:string [Term] id: Orphanet:122492 name: Hermansky-Pudlak syndrome 6 xref: ENSEMBL:ENSG00000166189 xref: GENATLAS:HPS6 xref: HGNC:18817 xref: OMIM:607522 xref: UNIPROTKB/SWISSPROT:Q86YV9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231512 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hermansky-Pudlak syndrome without pulmonary fibrosis property_value: alternative:term "FLJ22501" xsd:string property_value: symbol "HPS6" xsd:string [Term] id: Orphanet:122495 name: hair growth associated xref: ENSEMBL:ENSG00000168453 xref: GENATLAS:HR xref: HGNC:5172 xref: OMIM:602302 xref: UNIPROTKB/SWISSPROT:O43593 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:444 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Marie Unna hereditary hypotrichosis relationship: Orphanet:317343 Orphanet:701 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alopecia universalis relationship: Orphanet:317343 Orphanet:86819 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atrichia with papular lesions property_value: alternative:term "ALUNC" xsd:string property_value: alternative:term "AU" xsd:string property_value: alternative:term "hairless (mouse) homolog" xsd:string property_value: alternative:term "Hairless homolog (mouse)" xsd:string property_value: symbol "HR" xsd:string [Term] id: Orphanet:122499 name: Harvey rat sarcoma viral oncogene homolog xref: ENSEMBL:ENSG00000174775 xref: GENATLAS:HRAS xref: HGNC:5173 xref: OMIM:190020 xref: REACTOME:P01112 xref: UNIPROTKB/SWISSPROT:P01112 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3071 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Costello syndrome relationship: Orphanet:317344 Orphanet:2612 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Linear nevus sebaceus syndrome relationship: Orphanet:317344 Orphanet:2874 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Phakomatosis pigmentokeratotica property_value: alternative:term "HRAS1" xsd:string property_value: alternative:term "V-Ha-ras Harvey rat sarcoma viral oncogene homolog" xsd:string property_value: symbol "HRAS" xsd:string [Term] id: Orphanet:1225 name: Baller-Gerold syndrome xref: ICD10:Q87.0 xref: MESH:C536788 xref: OMIM:218600 xref: SNOMED CT:77608001 xref: UMLS:C0265308 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis [Term] id: Orphanet:122502 name: hydroxysteroid (11-beta) dehydrogenase 2 xref: ENSEMBL:ENSG00000176387 xref: GENATLAS:HSD11B2 xref: HGNC:5209 xref: OMIM:614232 xref: UNIPROTKB/SWISSPROT:P80365 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:320 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Apparent mineralocorticoid excess property_value: alternative:term "SDR9C3" xsd:string property_value: alternative:term "short chain dehydrogenase/reductase family 9C, member 3" xsd:string property_value: symbol "HSD11B2" xsd:string [Term] id: Orphanet:122504 name: hydroxysteroid (17-beta) dehydrogenase 10 xref: ENSEMBL:ENSG00000072506 xref: GENATLAS:HSD17B10 xref: HGNC:4800 xref: OMIM:300256 xref: REACTOME:Q99714 xref: UNIPROTKB/SWISSPROT:Q99714 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:35123 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency relationship: Orphanet:317343 Orphanet:85295 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome property_value: alternative:term "17b-HSD10" xsd:string property_value: alternative:term "AB-binding alcohol dehydrogenase" xsd:string property_value: alternative:term "ABAD" xsd:string property_value: alternative:term "CAMR" xsd:string property_value: alternative:term "ERAB" xsd:string property_value: alternative:term "HADH2" xsd:string property_value: alternative:term "hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II" xsd:string property_value: alternative:term "mental retardation, X-linked, syndromic 10" xsd:string property_value: alternative:term "MHBD" xsd:string property_value: alternative:term "mitochondrial RNase P subunit 2" xsd:string property_value: alternative:term "MRPP2" xsd:string property_value: alternative:term "MRXS10" xsd:string property_value: alternative:term "SDR5C1" xsd:string property_value: alternative:term "short chain dehydrogenase/reductase family 5C, member 1" xsd:string property_value: alternative:term "type 10 17b-HSD" xsd:string property_value: alternative:term "type 10 17beta-hydroxysteroid dehydrogenase" xsd:string property_value: symbol "HSD17B10" xsd:string [Term] id: Orphanet:122511 name: hydroxysteroid (17-beta) dehydrogenase 3 xref: ENSEMBL:ENSG00000130948 xref: GENATLAS:HSD17B3 xref: HGNC:5212 xref: OMIM:605573 xref: REACTOME:P37058 xref: UNIPROTKB/SWISSPROT:P37058 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1331 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial prostate cancer relationship: Orphanet:317343 Orphanet:752 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency property_value: alternative:term "SDR12C2" xsd:string property_value: alternative:term "short chain dehydrogenase/reductase family 12C, member 2" xsd:string property_value: symbol "HSD17B3" xsd:string [Term] id: Orphanet:122513 name: hydroxysteroid (17-beta) dehydrogenase 4 xref: ENSEMBL:ENSG00000133835 xref: GENATLAS:HSD17B4 xref: HGNC:5213 xref: OMIM:601860 xref: REACTOME:P51659 xref: UNIPROTKB/SWISSPROT:P51659 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2855 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Perrault syndrome relationship: Orphanet:317343 Orphanet:300 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bifunctional enzyme deficiency property_value: alternative:term "17-beta-HSD IV" xsd:string property_value: alternative:term "17-beta-hydroxysteroid dehydrogenase 4" xsd:string property_value: alternative:term "17beta-estradiol dehydrogenase type IV" xsd:string property_value: alternative:term "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase" xsd:string property_value: alternative:term "beta-hydroxyacyl dehydrogenase" xsd:string property_value: alternative:term "beta-keto-reductase" xsd:string property_value: alternative:term "D-3-hydroxyacyl-CoA dehydratase" xsd:string property_value: alternative:term "D-bifunctional protein, peroxisomal" xsd:string property_value: alternative:term "DBP" xsd:string property_value: alternative:term "MFE-2" xsd:string property_value: alternative:term "peroxisomal multifunctional protein 2" xsd:string property_value: alternative:term "SDR8C1" xsd:string property_value: alternative:term "short chain dehydrogenase/reductase family 8C, member 1" xsd:string property_value: symbol "HSD17B4" xsd:string [Term] id: Orphanet:122515 name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 xref: ENSEMBL:ENSG00000203859 xref: GENATLAS:HSD3B2 xref: HGNC:5218 xref: IUPHAR:2622 xref: OMIM:613890 xref: REACTOME:P26439 xref: UNIPROTKB/SWISSPROT:P26439 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1331 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial prostate cancer relationship: Orphanet:317343 Orphanet:90791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency property_value: alternative:term "SDR11E2" xsd:string property_value: alternative:term "short chain dehydrogenase/reductase family 11E, member 2" xsd:string property_value: symbol "HSD3B2" xsd:string [Term] id: Orphanet:122517 name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 xref: ENSEMBL:ENSG00000099377 xref: GENATLAS:HSD3B7 xref: HGNC:18324 xref: OMIM:607764 xref: REACTOME:Q9H2F3 xref: UNIPROTKB/SWISSPROT:Q9H2F3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79301 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital bile acid synthesis defect type 1 property_value: alternative:term "C(27)-3BETA-HSD" xsd:string property_value: alternative:term "SDR11E3" xsd:string property_value: alternative:term "short chain dehydrogenase/reductase family 11E, member 3" xsd:string property_value: symbol "HSD3B7" xsd:string [Term] id: Orphanet:122520 name: heat shock transcription factor 4 xref: ENSEMBL:ENSG00000102878 xref: GENATLAS:HSF4 xref: HGNC:5227 xref: OMIM:602438 xref: UNIPROTKB/SWISSPROT:Q9ULV5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98995 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zonular cataract property_value: alternative:term "cataract, Marner" xsd:string property_value: alternative:term "CTM" xsd:string property_value: symbol "HSF4" xsd:string [Term] id: Orphanet:122526 name: heat shock 27kDa protein 1 xref: ENSEMBL:ENSG00000106211 xref: GENATLAS:HSPB1 xref: HGNC:5246 xref: OMIM:602195 xref: REACTOME:P04792 xref: UNIPROTKB/SWISSPROT:P04792 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:139525 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Distal hereditary motor neuropathy type 2 relationship: Orphanet:317343 Orphanet:99940 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Charcot-Marie-Tooth disease type 2F property_value: alternative:term "heat shock 27kD protein 1" xsd:string property_value: alternative:term "Hs.76067" xsd:string property_value: alternative:term "Hsp25" xsd:string property_value: alternative:term "HSP27" xsd:string property_value: alternative:term "HSP28" xsd:string property_value: symbol "HSPB1" xsd:string [Term] id: Orphanet:122532 name: heat shock 22kDa protein 8 xref: ENSEMBL:ENSG00000152137 xref: GENATLAS:HSPB8 xref: HGNC:30171 xref: OMIM:608014 xref: UNIPROTKB/SWISSPROT:Q9UJY1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:139525 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Distal hereditary motor neuropathy type 2 relationship: Orphanet:317343 Orphanet:99945 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Charcot-Marie-Tooth disease type 2L property_value: alternative:term "E2IG1" xsd:string property_value: alternative:term "H11" xsd:string property_value: alternative:term "heat shock 27kDa protein 8" xsd:string property_value: alternative:term "HSP22" xsd:string property_value: alternative:term "HspB8" xsd:string property_value: symbol "HSPB8" xsd:string [Term] id: Orphanet:122538 name: HSPB (heat shock 27kDa) associated protein 1 xref: ENSEMBL:ENSG00000169087 xref: GENATLAS:HSPBAP1 xref: HGNC:16389 xref: OMIM:608263 xref: UNIPROTKB/SWISSPROT:Q96EW2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:151 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial renal cell carcinoma property_value: alternative:term "FLJ22623" xsd:string property_value: alternative:term "HSPB (heat shock 27kD) associated protein 1" xsd:string property_value: alternative:term "PASS1" xsd:string property_value: symbol "HSPBAP1" xsd:string [Term] id: Orphanet:122542 name: heat shock 60kDa protein 1 (chaperonin) xref: ENSEMBL:ENSG00000144381 xref: GENATLAS:HSPD1 xref: HGNC:5261 xref: OMIM:118190 xref: REACTOME:P10809 xref: UNIPROTKB/SWISSPROT:P10809 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100994 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant spastic paraplegia type 13 relationship: Orphanet:317343 Orphanet:280288 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pelizaeus-Merzbacher-like due to HSPD1 mutation property_value: alternative:term "GROEL" xsd:string property_value: alternative:term "heat shock 60kD protein 1 (chaperonin)" xsd:string property_value: alternative:term "HSP60" xsd:string property_value: alternative:term "spastic paraplegia 13 (autosomal dominant)" xsd:string property_value: alternative:term "SPG13" xsd:string property_value: symbol "HSPD1" xsd:string [Term] id: Orphanet:122547 name: heparan sulfate proteoglycan 2 xref: ENSEMBL:ENSG00000142798 xref: GENATLAS:HSPG2 xref: HGNC:5273 xref: OMIM:142461 xref: REACTOME:P98160 xref: UNIPROTKB/SWISSPROT:P98160 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1865 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dyssegmental dysplasia, Silverman-Handmaker type relationship: Orphanet:317343 Orphanet:800 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Schwartz-Jampel syndrome property_value: alternative:term "perlecan" xsd:string property_value: alternative:term "perlecan proteoglycan" xsd:string property_value: alternative:term "PRCAN" xsd:string property_value: alternative:term "Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)" xsd:string property_value: alternative:term "SJS1" xsd:string property_value: symbol "HSPG2" xsd:string [Term] id: Orphanet:122552 name: HtrA serine peptidase 2 xref: ENSEMBL:ENSG00000115317 xref: GENATLAS:HTRA2 xref: HGNC:14348 xref: OMIM:606441 xref: UNIPROTKB/SWISSPROT:O43464 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2828 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Young adult-onset Parkinsonism property_value: alternative:term "OMI" xsd:string property_value: alternative:term "PARK13" xsd:string property_value: alternative:term "protease, serine, 25" xsd:string property_value: alternative:term "PRSS25" xsd:string property_value: symbol "HTRA2" xsd:string [Term] id: Orphanet:122556 name: hyaluronoglucosaminidase 1 xref: ENSEMBL:ENSG00000114378 xref: GENATLAS:HYAL1 xref: HGNC:5320 xref: OMIM:607071 xref: REACTOME:Q12794 xref: UNIPROTKB/SWISSPROT:Q12794 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:67041 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyaluronidase deficiency property_value: alternative:term "FUS2" xsd:string property_value: alternative:term "HYAL-1" xsd:string property_value: alternative:term "LUCA1" xsd:string property_value: alternative:term "NAT6" xsd:string property_value: symbol "HYAL1" xsd:string [Term] id: Orphanet:122562 name: hydrolethalus syndrome 1 xref: ENSEMBL:ENSG00000198331 xref: GENATLAS:HYLS1 xref: HGNC:26558 xref: OMIM:610693 xref: UNIPROTKB/SWISSPROT:Q96M11 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2189 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hydrolethalus property_value: alternative:term "FLJ32915" xsd:string property_value: symbol "HYLS1" xsd:string [Term] id: Orphanet:122565 name: inducible T-cell co-stimulator xref: ENSEMBL:ENSG00000163600 xref: GENATLAS:ICOS xref: HGNC:5351 xref: OMIM:604558 xref: REACTOME:Q9Y6W8 xref: UNIPROTKB/SWISSPROT:Q9Y6W8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1572 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Common variable immunodeficiency property_value: alternative:term "activation-inducible lymphocyte immunomediatory molecule" xsd:string property_value: alternative:term "AILIM" xsd:string property_value: alternative:term "CD278" xsd:string property_value: symbol "ICOS" xsd:string [Term] id: Orphanet:122569 name: iduronate 2-sulfatase xref: ENSEMBL:ENSG00000010404 xref: GENATLAS:IDS xref: HGNC:5389 xref: OMIM:300823 xref: REACTOME:P22304 xref: UNIPROTKB/SWISSPROT:P22304 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:217085 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mucopolysaccharidosis type 2, severe form relationship: Orphanet:317343 Orphanet:217093 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mucopolysaccharidosis type 2, attenuated form property_value: alternative:term "Hunter syndrome" xsd:string property_value: alternative:term "Iduronate 2-sulfatase (Hunter syndrome)" xsd:string property_value: alternative:term "SIDS" xsd:string property_value: symbol "IDS" xsd:string [Term] id: Orphanet:122572 name: iduronidase, alpha-L- xref: ENSEMBL:ENSG00000127415 xref: GENATLAS:IDUA xref: HGNC:5391 xref: OMIM:252800 xref: REACTOME:P35475 xref: UNIPROTKB/SWISSPROT:P35475 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93473 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hurler syndrome relationship: Orphanet:317343 Orphanet:93474 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Scheie syndrome relationship: Orphanet:317343 Orphanet:93476 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hurler-Scheie syndrome property_value: alternative:term "MPS1" xsd:string property_value: symbol "IDUA" xsd:string [Term] id: Orphanet:122574 name: interferon, gamma xref: ENSEMBL:ENSG00000111537 xref: GENATLAS:IFNG xref: HGNC:5438 xref: OMIM:147570 xref: REACTOME:P01579 xref: UNIPROTKB/SWISSPROT:P01579 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:88 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic aplastic anemia property_value: symbol "IFNG" xsd:string [Term] id: Orphanet:122576 name: interferon gamma receptor 1 xref: ENSEMBL:ENSG00000027697 xref: GENATLAS:IFNGR1 xref: HGNC:5439 xref: OMIM:107470 xref: REACTOME:P15260 xref: UNIPROTKB/SWISSPROT:P15260 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319569 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency relationship: Orphanet:317343 Orphanet:319581 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency relationship: Orphanet:317343 Orphanet:99898 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency property_value: alternative:term "CD119" xsd:string property_value: alternative:term "IFNGR" xsd:string property_value: symbol "IFNGR1" xsd:string [Term] id: Orphanet:122580 name: interferon gamma receptor 2 (interferon gamma transducer 1) xref: ENSEMBL:ENSG00000159128 xref: GENATLAS:IFNGR2 xref: HGNC:5440 xref: OMIM:147569 xref: REACTOME:P38484 xref: UNIPROTKB/SWISSPROT:P38484 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319547 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency relationship: Orphanet:317343 Orphanet:319574 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency relationship: Orphanet:317343 Orphanet:319589 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency property_value: alternative:term "AF-1" xsd:string property_value: alternative:term "IFNGT1" xsd:string property_value: symbol "IFNGR2" xsd:string [Term] id: Orphanet:122584 name: immunoglobulin (CD79A) binding protein 1 xref: ENSEMBL:ENSG00000089289 xref: GENATLAS:IGBP1 xref: HGNC:5461 xref: OMIM:300139 xref: UNIPROTKB/SWISSPROT:P78318 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:52055 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia property_value: alternative:term "alpha 4" xsd:string property_value: alternative:term "IBP1" xsd:string property_value: symbol "IGBP1" xsd:string [Term] id: Orphanet:122587 name: insulin-like growth factor 1 (somatomedin C) xref: ENSEMBL:ENSG00000017427 xref: GENATLAS:IGF1 xref: HGNC:5464 xref: OMIM:147440 xref: REACTOME:P05019 xref: UNIPROTKB/SWISSPROT:P05019 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:73272 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Growth delay due to insulin-like growth factor type 1 deficiency property_value: alternative:term "IGF1A" xsd:string property_value: symbol "IGF1" xsd:string [Term] id: Orphanet:122589 name: immunoglobulin heavy constant gamma 1 (G1m marker) xref: ENSEMBL:ENSG00000211896 xref: GENATLAS:IGHG1 xref: HGNC:5525 xref: OMIM:147100 xref: REACTOME:P01857 xref: UNIPROTKB/SWISSPROT:P01857 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:67038 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! B-cell chronic lymphocytic leukemia property_value: symbol "IGHG1" xsd:string [Term] id: Orphanet:122591 name: immunoglobulin heavy constant mu xref: ENSEMBL:ENSG00000211899 xref: GENATLAS:IGHM xref: HGNC:5541 xref: OMIM:147020 xref: REACTOME:P01871 xref: UNIPROTKB/SWISSPROT:P01871 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:33110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal agammaglobulinemia property_value: symbol "IGHM" xsd:string [Term] id: Orphanet:122593 name: immunoglobulin mu binding protein 2 xref: ENSEMBL:ENSG00000132740 xref: GENATLAS:IGHMBP2 xref: HGNC:5542 xref: OMIM:600502 xref: UNIPROTKB/SWISSPROT:P38935 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98920 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinal muscular atrophy with respiratory distress property_value: alternative:term "cardiac transcription factor 1" xsd:string property_value: alternative:term "CATF1" xsd:string property_value: alternative:term "HCSA" xsd:string property_value: alternative:term "HMN6" xsd:string property_value: alternative:term "SMARD1" xsd:string property_value: alternative:term "SMUBP2" xsd:string property_value: alternative:term "ZFAND7" xsd:string property_value: alternative:term "zinc finger, AN1-type domain 7" xsd:string property_value: symbol "IGHMBP2" xsd:string [Term] id: Orphanet:122598 name: immunoglobulin lambda-like polypeptide 1 xref: ENSEMBL:ENSG00000128322 xref: GENATLAS:IGLL1 xref: HGNC:5870 xref: OMIM:146770 xref: UNIPROTKB/SWISSPROT:P15814 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:33110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal agammaglobulinemia property_value: alternative:term "14,1" xsd:string property_value: alternative:term "14.1" xsd:string property_value: alternative:term "CD179B" xsd:string property_value: alternative:term "IGL5" xsd:string property_value: alternative:term "IGLL" xsd:string property_value: alternative:term "IGVPB" xsd:string property_value: symbol "IGLL1" xsd:string [Term] id: Orphanet:1226 name: Bamforth syndrome xref: ICD10:E03.1 xref: MESH:C537901 xref: OMIM:241850 xref: UMLS:C1855794 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:177107 ! Syndromic hypothyroidism property_value: alternative:term "Bamforth-Lazarus syndrome" xsd:string property_value: alternative:term "Hypothyroidism - cleft palate" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Bamforth syndrome is a rare form of syndromic congenital hypothyroidism that associates athyreosis and cleft palate." xsd:string [Term] id: Orphanet:122605 name: indian hedgehog xref: ENSEMBL:ENSG00000163501 xref: GENATLAS:IHH xref: HGNC:5956 xref: OMIM:600726 xref: REACTOME:Q14623 xref: UNIPROTKB/SWISSPROT:Q14623 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:63446 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acrocapitofemoral dysplasia relationship: Orphanet:317343 Orphanet:93388 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brachydactyly type A1 property_value: alternative:term "BDA1" xsd:string property_value: alternative:term "HHG2" xsd:string property_value: alternative:term "Indian hedgehog (Drosophila) homolog" xsd:string property_value: alternative:term "Indian hedgehog homolog (Drosophila)" xsd:string property_value: symbol "IHH" xsd:string [Term] id: Orphanet:122607 name: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein xref: ENSEMBL:ENSG00000070061 xref: GENATLAS:IKBKAP xref: HGNC:5959 xref: OMIM:603722 xref: REACTOME:O95163 xref: UNIPROTKB/SWISSPROT:O95163 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1764 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial dysautonomia property_value: alternative:term "DYS" xsd:string property_value: alternative:term "dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)" xsd:string property_value: alternative:term "elongator acetyltransferase complex subunit 1" xsd:string property_value: alternative:term "ELP1" xsd:string property_value: alternative:term "IKAP" xsd:string property_value: alternative:term "IKI3" xsd:string property_value: alternative:term "TOT1" xsd:string property_value: symbol "IKBKAP" xsd:string [Term] id: Orphanet:122614 name: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma xref: ENSEMBL:ENSG00000073009 xref: GENATLAS:IKBKG xref: HGNC:5961 xref: OMIM:300248 xref: REACTOME:Q9Y6K9 xref: UNIPROTKB/SWISSPROT:Q9Y6K9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319612 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency relationship: Orphanet:317343 Orphanet:464 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Incontinentia pigmenti relationship: Orphanet:317343 Orphanet:69088 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema relationship: Orphanet:317343 Orphanet:98813 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypohidrotic ectodermal dysplasia with immunodeficiency property_value: alternative:term "FIP-3" xsd:string property_value: alternative:term "FIP3" xsd:string property_value: alternative:term "Fip3p" xsd:string property_value: alternative:term "IKK-gamma" xsd:string property_value: alternative:term "incontinentia pigmenti" xsd:string property_value: alternative:term "IP1" xsd:string property_value: alternative:term "IP2" xsd:string property_value: alternative:term "NEMO" xsd:string property_value: alternative:term "ZC2HC9" xsd:string property_value: symbol "IKBKG" xsd:string [Term] id: Orphanet:122623 name: interleukin 10 xref: ENSEMBL:ENSG00000136634 xref: GENATLAS:IL10 xref: HGNC:5962 xref: OMIM:124092 xref: UNIPROTKB/SWISSPROT:P22301 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:238569 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive early-onset inflammatory bowel disease relationship: Orphanet:317345 Orphanet:117 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Behçet disease property_value: alternative:term "CSIF" xsd:string property_value: alternative:term "cytokine synthesis inhibitory factor" xsd:string property_value: alternative:term "IL-10" xsd:string property_value: alternative:term "IL10A" xsd:string property_value: alternative:term "T-cell growth inhibitory factor" xsd:string property_value: alternative:term "TGIF" xsd:string property_value: symbol "IL10" xsd:string [Term] id: Orphanet:122629 name: interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) xref: ENSEMBL:ENSG00000113302 xref: GENATLAS:IL12B xref: HGNC:5970 xref: OMIM:161561 xref: UNIPROTKB/SWISSPROT:P29460 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319558 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency relationship: Orphanet:317345 Orphanet:3287 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Takayasu arteritis property_value: alternative:term "CLMF" xsd:string property_value: alternative:term "CLMF2" xsd:string property_value: alternative:term "cytotoxic lymphocyte maturation factor 2, p40" xsd:string property_value: alternative:term "IL-12B" xsd:string property_value: alternative:term "IL12, subunit p40" xsd:string property_value: alternative:term "interleukin 12, p40" xsd:string property_value: alternative:term "interleukin-12 beta chain" xsd:string property_value: alternative:term "natural killer cell stimulatory factor, 40 kD subunit" xsd:string property_value: alternative:term "natural killer cell stimulatory factor-2" xsd:string property_value: alternative:term "NKSF" xsd:string property_value: alternative:term "NKSF2" xsd:string property_value: symbol "IL12B" xsd:string [Term] id: Orphanet:122634 name: interleukin 12 receptor, beta 1 xref: ENSEMBL:ENSG00000096996 xref: GENATLAS:IL12RB1 xref: HGNC:5971 xref: OMIM:601604 xref: UNIPROTKB/SWISSPROT:P42701 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319552 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency relationship: Orphanet:317345 Orphanet:186 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary biliary cirrhosis property_value: alternative:term "CD212" xsd:string property_value: alternative:term "IL12RB" xsd:string property_value: symbol "IL12RB1" xsd:string [Term] id: Orphanet:122638 name: interleukin 23 receptor xref: ENSEMBL:ENSG00000162594 xref: GENATLAS:IL23R xref: HGNC:19100 xref: OMIM:607562 xref: UNIPROTKB/SWISSPROT:Q5VWK5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:117 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Behçet disease property_value: alternative:term "IL-23R" xsd:string property_value: symbol "IL23R" xsd:string [Term] id: Orphanet:122641 name: interleukin 2 receptor, gamma xref: ENSEMBL:ENSG00000147168 xref: GENATLAS:IL2RG xref: HGNC:6010 xref: OMIM:308380 xref: REACTOME:P31785 xref: UNIPROTKB/SWISSPROT:P31785 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:276 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! T-B+ severe combined immunodeficiency due to gamma chain deficiency relationship: Orphanet:317343 Orphanet:39041 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Omenn syndrome property_value: alternative:term "CD132" xsd:string property_value: alternative:term "CIDX" xsd:string property_value: alternative:term "combined immunodeficiency, X-linked" xsd:string property_value: alternative:term "IMD4" xsd:string property_value: alternative:term "Interleukin 2 receptor, gamma (severe combined immunodeficiency)" xsd:string property_value: alternative:term "SCIDX1" xsd:string property_value: alternative:term "severe combined immunodeficiency" xsd:string property_value: symbol "IL2RG" xsd:string [Term] id: Orphanet:122649 name: IMP (inosine 5'-monophosphate) dehydrogenase 1 xref: ENSEMBL:ENSG00000106348 xref: GENATLAS:IMPDH1 xref: HGNC:6052 xref: IUPHAR:2624 xref: OMIM:146690 xref: REACTOME:P20839 xref: UNIPROTKB/SWISSPROT:P20839 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:65 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber congenital amaurosis relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "IMP (inosine monophosphate) dehydrogenase 1" xsd:string property_value: alternative:term "LCA11" xsd:string property_value: alternative:term "retinitis pigmentosa 10 (autosomal dominant)" xsd:string property_value: alternative:term "RP10" xsd:string property_value: alternative:term "sWSS2608" xsd:string property_value: symbol "IMPDH1" xsd:string [Term] id: Orphanet:122654 name: inhibitor of growth family, member 1 xref: ENSEMBL:ENSG00000153487 xref: GENATLAS:ING1 xref: HGNC:6062 xref: OMIM:601566 xref: UNIPROTKB/SWISSPROT:Q9UK53 is_a: Orphanet:C010 ! gene relationship: Orphanet:317344 Orphanet:67037 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Squamous cell carcinoma of head and neck property_value: alternative:term "growth inhibitor ING1" xsd:string property_value: alternative:term "growth inhibitory protein ING1" xsd:string property_value: alternative:term "inhibitor of growth 1" xsd:string property_value: alternative:term "p24ING1c" xsd:string property_value: alternative:term "p33" xsd:string property_value: alternative:term "p33ING1" xsd:string property_value: alternative:term "p33ING1b" xsd:string property_value: alternative:term "p47" xsd:string property_value: alternative:term "p47ING1a" xsd:string property_value: alternative:term "tumor suppressor ING1" xsd:string property_value: symbol "ING1" xsd:string [Term] id: Orphanet:122656 name: inhibitor of growth family, member 3 xref: ENSEMBL:ENSG00000071243 xref: GENATLAS:ING3 xref: HGNC:14587 xref: OMIM:607493 xref: REACTOME:Q9NXR8 xref: UNIPROTKB/SWISSPROT:Q9NXR8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317344 Orphanet:67037 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Squamous cell carcinoma of head and neck property_value: alternative:term "Eaf4" xsd:string property_value: alternative:term "FLJ20089" xsd:string property_value: alternative:term "MEAF4" xsd:string property_value: alternative:term "p47ING3" xsd:string property_value: symbol "ING3" xsd:string [Term] id: Orphanet:122664 name: insulin receptor xref: ENSEMBL:ENSG00000171105 xref: GENATLAS:INSR xref: HGNC:6091 xref: IUPHAR:1800 xref: OMIM:147670 xref: REACTOME:P06213 xref: UNIPROTKB/SWISSPROT:P06213 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2297 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Insulin-resistance syndrome type A relationship: Orphanet:317343 Orphanet:263458 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperinsulinism due to INSR deficiency relationship: Orphanet:317343 Orphanet:508 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leprechaunism relationship: Orphanet:317343 Orphanet:769 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rabson-Mendenhall syndrome property_value: alternative:term "CD220" xsd:string property_value: symbol "INSR" xsd:string [Term] id: Orphanet:122667 name: inversin xref: ENSEMBL:ENSG00000119509 xref: GENATLAS:INVS xref: HGNC:17870 xref: OMIM:243305 xref: UNIPROTKB/SWISSPROT:Q9Y283 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3156 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Senior-Loken syndrome relationship: Orphanet:317343 Orphanet:93591 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile autosomal recessive medullary cystic kidney disease property_value: alternative:term "nephrocystin 2" xsd:string property_value: alternative:term "nephronophthisis 2 (infantile)" xsd:string property_value: alternative:term "NPHP2" xsd:string property_value: symbol "INVS" xsd:string [Term] id: Orphanet:122670 name: IQ motif containing B1 xref: ENSEMBL:ENSG00000173226 xref: GENATLAS:IQCB1 xref: HGNC:28949 xref: OMIM:609237 xref: UNIPROTKB/SWISSPROT:Q15051 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3156 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Senior-Loken syndrome relationship: Orphanet:317343 Orphanet:65 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber congenital amaurosis property_value: alternative:term "IQ calmodulin-binding motif containing 1" xsd:string property_value: alternative:term "KIAA0036" xsd:string property_value: alternative:term "nephrocystin-5" xsd:string property_value: alternative:term "NPHP5" xsd:string property_value: symbol "IQCB1" xsd:string [Term] id: Orphanet:122674 name: interleukin-1 receptor-associated kinase 4 xref: ENSEMBL:ENSG00000198001 xref: GENATLAS:IRAK4 xref: HGNC:17967 xref: IUPHAR:2045 xref: OMIM:606883 xref: REACTOME:Q9NWZ3 xref: UNIPROTKB/SWISSPROT:Q9NWZ3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:70592 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency property_value: alternative:term "NY-REN-64" xsd:string property_value: symbol "IRAK4" xsd:string [Term] id: Orphanet:122684 name: interferon regulatory factor 6 xref: ENSEMBL:ENSG00000117595 xref: GENATLAS:IRF6 xref: HGNC:6121 xref: OMIM:607199 xref: REACTOME:O14896 xref: UNIPROTKB/SWISSPROT:O14896 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1300 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant popliteal pterygium syndrome relationship: Orphanet:317343 Orphanet:888 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Van der Woude syndrome relationship: Orphanet:317343 Orphanet:99798 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oligodontia property_value: alternative:term "LPS" xsd:string property_value: alternative:term "OFC6" xsd:string property_value: alternative:term "Van der Woude syndrome" xsd:string property_value: alternative:term "VWS" xsd:string property_value: alternative:term "VWS1" xsd:string property_value: symbol "IRF6" xsd:string [Term] id: Orphanet:122690 name: integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) xref: ENSEMBL:ENSG00000005961 xref: GENATLAS:ITGA2B xref: HGNC:6138 xref: OMIM:607759 xref: REACTOME:P08514 xref: UNIPROTKB/SWISSPROT:P08514 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:140957 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal dominant macrothrombocytopenia relationship: Orphanet:317343 Orphanet:849 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glanzmann thrombasthenia relationship: Orphanet:327767 Orphanet:853 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Fetal and neonatal alloimmune thrombocytopenia property_value: alternative:term "CD41" xsd:string property_value: alternative:term "CD41B" xsd:string property_value: alternative:term "GP2B" xsd:string property_value: alternative:term "integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)" xsd:string property_value: symbol "ITGA2B" xsd:string [Term] id: Orphanet:122695 name: integrin, alpha 6 xref: ENSEMBL:ENSG00000091409 xref: GENATLAS:ITGA6 xref: HGNC:6142 xref: OMIM:147556 xref: REACTOME:P23229 xref: UNIPROTKB/SWISSPROT:P23229 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79403 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Junctional epidermolysis bullosa - pyloric atresia property_value: alternative:term "CD49f" xsd:string property_value: symbol "ITGA6" xsd:string [Term] id: Orphanet:122698 name: integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) xref: ENSEMBL:ENSG00000160255 xref: GENATLAS:ITGB2 xref: HGNC:6155 xref: OMIM:600065 xref: REACTOME:P05107 xref: UNIPROTKB/SWISSPROT:P05107 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99842 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leukocyte adhesion deficiency type I property_value: alternative:term "CD18" xsd:string property_value: alternative:term "integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)" xsd:string property_value: alternative:term "LFA-1" xsd:string property_value: alternative:term "MAC-1" xsd:string property_value: alternative:term "MFI7" xsd:string property_value: symbol "ITGB2" xsd:string [Term] id: Orphanet:1227 name: Bangstad syndrome xref: ICD10:E31.8 xref: MESH:C537902 xref: OMIM:210740 xref: UMLS:C0342284 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101956 ! Polyendocrinopathy relationship: part_of Orphanet:183643 ! Genetic polyendocrinopathy property_value: alternative:term "Ataxia - diabetes - goiter - gonadal insufficiency" xsd:string [Term] id: Orphanet:122704 name: integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) xref: ENSEMBL:ENSG00000259207 xref: GENATLAS:ITGB3 xref: HGNC:6156 xref: OMIM:173470 xref: REACTOME:P05106 xref: UNIPROTKB/SWISSPROT:P05106 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:140957 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal dominant macrothrombocytopenia relationship: Orphanet:317343 Orphanet:849 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glanzmann thrombasthenia relationship: Orphanet:317345 Orphanet:853 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Fetal and neonatal alloimmune thrombocytopenia property_value: alternative:term "CD61" xsd:string property_value: alternative:term "GP3A" xsd:string property_value: alternative:term "GPIIIa" xsd:string property_value: alternative:term "platelet glycoprotein IIIa" xsd:string property_value: symbol "ITGB3" xsd:string [Term] id: Orphanet:122708 name: integrin, beta 4 xref: ENSEMBL:ENSG00000132470 xref: GENATLAS:ITGB4 xref: HGNC:6158 xref: OMIM:147557 xref: REACTOME:P16144 xref: UNIPROTKB/SWISSPROT:P16144 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:158684 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epidermolysis bullosa simplex with pyloric atresia relationship: Orphanet:317343 Orphanet:251393 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Localized junctional epidermolysis bullosa, non-Herlitz type relationship: Orphanet:317343 Orphanet:79402 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized junctional epidermolysis bullosa, non-Herlitz type relationship: Orphanet:317343 Orphanet:79403 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Junctional epidermolysis bullosa - pyloric atresia property_value: alternative:term "CD104" xsd:string property_value: symbol "ITGB4" xsd:string [Term] id: Orphanet:122711 name: integral membrane protein 2B xref: ENSEMBL:ENSG00000136156 xref: GENATLAS:ITM2B xref: HGNC:6174 xref: OMIM:603904 xref: REACTOME:Q9Y287 xref: UNIPROTKB/SWISSPROT:Q9Y287 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:97345 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial dementia, British type relationship: Orphanet:317343 Orphanet:97346 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial dementia, Danish type property_value: alternative:term "BRI" xsd:string property_value: alternative:term "BRICD2B" xsd:string property_value: alternative:term "BRICHOS domain containing 2B" xsd:string property_value: alternative:term "E25B" xsd:string property_value: alternative:term "E3-16" xsd:string property_value: symbol "ITM2B" xsd:string [Term] id: Orphanet:122716 name: isovaleryl-CoA dehydrogenase xref: ENSEMBL:ENSG00000128928 xref: GENATLAS:IVD xref: HGNC:6186 xref: OMIM:607036 xref: REACTOME:P26440 xref: UNIPROTKB/SWISSPROT:P26440 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:33 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isovaleric acidemia property_value: alternative:term "ACAD2" xsd:string property_value: alternative:term "isovaleryl CoA dehydrogenase" xsd:string property_value: alternative:term "Isovaleryl Coenzyme A dehydrogenase" xsd:string property_value: symbol "IVD" xsd:string [Term] id: Orphanet:122719 name: jagged 1 xref: ENSEMBL:ENSG00000101384 xref: GENATLAS:JAG1 xref: HGNC:6188 xref: OMIM:601920 xref: REACTOME:P78504 xref: UNIPROTKB/SWISSPROT:P78504 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:261619 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alagille syndrome due to a JAG1 point mutation relationship: Orphanet:317345 Orphanet:3303 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Tetralogy of Fallot relationship: Orphanet:317349 Orphanet:261600 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Alagille syndrome due to 20p12 microdeletion property_value: alternative:term "AGS" xsd:string property_value: alternative:term "AHD" xsd:string property_value: alternative:term "Alagille syndrome" xsd:string property_value: alternative:term "AWS" xsd:string property_value: alternative:term "CD339" xsd:string property_value: alternative:term "HJ1" xsd:string property_value: alternative:term "JAGL1" xsd:string property_value: symbol "JAG1" xsd:string [Term] id: Orphanet:122727 name: Janus kinase 2 xref: ENSEMBL:ENSG00000096968 xref: GENATLAS:JAK2 xref: HGNC:6192 xref: IUPHAR:2048 xref: OMIM:147796 xref: REACTOME:O60674 xref: UNIPROTKB/SWISSPROT:O60674 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:71493 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial thrombocytosis relationship: Orphanet:317344 Orphanet:3318 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Essential thrombocythemia relationship: Orphanet:317344 Orphanet:729 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Polycythemia vera relationship: Orphanet:317344 Orphanet:824 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myelofibrosis with myeloid metaplasia relationship: Orphanet:317345 Orphanet:131 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Budd-Chiari syndrome property_value: alternative:term "Janus kinase 2 (a protein tyrosine kinase)" xsd:string property_value: alternative:term "JTK10" xsd:string property_value: symbol "JAK2" xsd:string [Term] id: Orphanet:122729 name: Janus kinase 3 xref: ENSEMBL:ENSG00000105639 xref: GENATLAS:JAK3 xref: HGNC:6193 xref: IUPHAR:2049 xref: OMIM:600173 xref: REACTOME:P52333 xref: UNIPROTKB/SWISSPROT:P52333 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:35078 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! T-B+ severe combined immunodeficiency due to JAK3 deficiency property_value: alternative:term "JAK-3" xsd:string property_value: alternative:term "JAK3_HUMAN" xsd:string property_value: alternative:term "JAKL" xsd:string property_value: alternative:term "Janus kinase 3 (a protein tyrosine kinase, leukocyte)" xsd:string property_value: alternative:term "L-JAK" xsd:string property_value: alternative:term "leukocyte Janus kinase" xsd:string property_value: alternative:term "LJAK" xsd:string property_value: alternative:term "tyrosine-protein kinase JAK3" xsd:string property_value: symbol "JAK3" xsd:string [Term] id: Orphanet:122732 name: lysine (K)-specific demethylase 5C xref: ENSEMBL:ENSG00000126012 xref: GENATLAS:JARID1C xref: HGNC:11114 xref: OMIM:314690 xref: UNIPROTKB/SWISSPROT:P41229 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:85279 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Syndromic X-linked intellectual deficit due to JARID1C mutation property_value: alternative:term "DXS1272E" xsd:string property_value: alternative:term "JARID1C" xsd:string property_value: alternative:term "jumonji, AT rich interactive domain 1C" xsd:string property_value: alternative:term "Jumonji, AT rich interactive domain 1C (RBP2-like)" xsd:string property_value: alternative:term "SMCX" xsd:string property_value: alternative:term "Smcy homolog, X-linked (mouse)" xsd:string property_value: alternative:term "XE169" xsd:string property_value: symbol "KDM5C" xsd:string [Term] id: Orphanet:122737 name: junctophilin 3 xref: ENSEMBL:ENSG00000154118 xref: GENATLAS:JPH3 xref: HGNC:14203 xref: OMIM:605268 xref: UNIPROTKB/SWISSPROT:Q8WXH2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98934 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Huntington disease-like 2 property_value: alternative:term "CAGL237" xsd:string property_value: alternative:term "HDL2" xsd:string property_value: alternative:term "JP-3" xsd:string property_value: alternative:term "JP3" xsd:string property_value: alternative:term "TNRC22" xsd:string property_value: alternative:term "trinucleotide repeat containing 22" xsd:string property_value: symbol "JPH3" xsd:string [Term] id: Orphanet:122744 name: junction plakoglobin xref: ENSEMBL:ENSG00000173801 xref: GENATLAS:JUP xref: HGNC:6207 xref: OMIM:173325 xref: REACTOME:P14923 xref: UNIPROTKB/SWISSPROT:P14923 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:158687 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lethal acantholytic epidermolysis bullosa relationship: Orphanet:317343 Orphanet:293888 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, left dominant form relationship: Orphanet:317343 Orphanet:293899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, biventricular form relationship: Orphanet:317343 Orphanet:293910 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, right dominant form relationship: Orphanet:317343 Orphanet:34217 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Naxos disease property_value: alternative:term "catenin (cadherin-associated protein), gamma 80kDa" xsd:string property_value: alternative:term "CTNNG" xsd:string property_value: alternative:term "DP3" xsd:string property_value: alternative:term "DPIII" xsd:string property_value: alternative:term "PDGB" xsd:string property_value: alternative:term "PKGB" xsd:string property_value: symbol "JUP" xsd:string [Term] id: Orphanet:122751 name: Kallmann syndrome 1 sequence xref: ENSEMBL:ENSG00000011201 xref: GENATLAS:KAL1 xref: HGNC:6211 xref: OMIM:300836 xref: UNIPROTKB/SWISSPROT:P23352 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:432 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Normosmic congenital hypogonadotropic hypogonadism relationship: Orphanet:317343 Orphanet:478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kallmann syndrome property_value: alternative:term "ADMLX" xsd:string property_value: alternative:term "anosmin-1" xsd:string property_value: alternative:term "KAL" xsd:string property_value: alternative:term "KALIG-1" xsd:string property_value: alternative:term "WAP four-disulfide core domain 19" xsd:string property_value: alternative:term "WFDC19" xsd:string property_value: symbol "KAL1" xsd:string [Term] id: Orphanet:122756 name: potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) xref: ENSEMBL:ENSG00000111262 xref: GENATLAS:KCNA1 xref: HGNC:6218 xref: IUPHAR:538 xref: OMIM:176260 xref: REACTOME:Q09470 xref: UNIPROTKB/SWISSPROT:Q09470 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:199326 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated autosomal dominant hypomagnesemia, Glaudemans type relationship: Orphanet:317343 Orphanet:37612 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Episodic ataxia type 1 relationship: Orphanet:317343 Orphanet:972 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary continuous muscle fiber activity property_value: alternative:term "AEMK" xsd:string property_value: alternative:term "HUK1" xsd:string property_value: alternative:term "Kv1.1" xsd:string property_value: alternative:term "MBK1" xsd:string property_value: alternative:term "RBK1" xsd:string property_value: symbol "KCNA1" xsd:string [Term] id: Orphanet:122763 name: potassium voltage-gated channel, Isk-related family, member 1 xref: ENSEMBL:ENSG00000180509 xref: GENATLAS:KCNE1 xref: HGNC:6240 xref: OMIM:176261 xref: UNIPROTKB/SWISSPROT:P15382 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101016 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Romano-Ward syndrome relationship: Orphanet:317343 Orphanet:90647 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Jervell and Lange-Nielsen syndrome relationship: Orphanet:317346 Orphanet:334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial atrial fibrillation property_value: alternative:term "ISK" xsd:string property_value: alternative:term "JLNS2" xsd:string property_value: alternative:term "LQT5" xsd:string property_value: alternative:term "minK" xsd:string property_value: symbol "KCNE1" xsd:string [Term] id: Orphanet:122768 name: KCNE1-like xref: ENSEMBL:ENSG00000176076 xref: GENATLAS:KCNE1L xref: HGNC:6241 xref: OMIM:300328 xref: UNIPROTKB/SWISSPROT:Q9UJ90 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:86818 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis property_value: alternative:term "potassium voltage-gated channel, Isk-related family, member 1-like" xsd:string property_value: symbol "KCNE1L" xsd:string [Term] id: Orphanet:122770 name: potassium voltage-gated channel, Isk-related family, member 2 xref: ENSEMBL:ENSG00000159197 xref: GENATLAS:KCNE2 xref: HGNC:6242 xref: OMIM:603796 xref: UNIPROTKB/SWISSPROT:Q9Y6J6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101016 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Romano-Ward syndrome relationship: Orphanet:317343 Orphanet:334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial atrial fibrillation property_value: alternative:term "LQT6" xsd:string property_value: alternative:term "MiRP1" xsd:string property_value: symbol "KCNE2" xsd:string [Term] id: Orphanet:122773 name: potassium voltage-gated channel, Isk-related family, member 3 xref: ENSEMBL:ENSG00000175538 xref: GENATLAS:KCNE3 xref: HGNC:6243 xref: OMIM:604433 xref: UNIPROTKB/SWISSPROT:Q9Y6H6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:130 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brugada syndrome relationship: Orphanet:327767 Orphanet:681 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hypokalemic periodic paralysis property_value: alternative:term "HOKPP" xsd:string property_value: alternative:term "MiRP2" xsd:string property_value: symbol "KCNE3" xsd:string [Term] id: Orphanet:122777 name: potassium voltage-gated channel, subfamily H (eag-related), member 2 xref: ENSEMBL:ENSG00000055118 xref: GENATLAS:KCNH2 xref: HGNC:6251 xref: IUPHAR:572 xref: OMIM:152427 xref: REACTOME:Q12809 xref: UNIPROTKB/SWISSPROT:Q12809 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101016 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Romano-Ward syndrome relationship: Orphanet:317343 Orphanet:51083 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial short QT syndrome property_value: alternative:term "erg1" xsd:string property_value: alternative:term "HERG" xsd:string property_value: alternative:term "Kv11.1" xsd:string property_value: alternative:term "LQT2" xsd:string property_value: symbol "KCNH2" xsd:string [Term] id: Orphanet:122783 name: potassium inwardly-rectifying channel, subfamily J, member 1 xref: ENSEMBL:ENSG00000151704 xref: GENATLAS:KCNJ1 xref: HGNC:6255 xref: IUPHAR:429 xref: OMIM:600359 xref: REACTOME:P48048 xref: UNIPROTKB/SWISSPROT:P48048 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93604 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Antenatal Bartter syndrome property_value: alternative:term "Kir1.1" xsd:string property_value: alternative:term "ROMK1" xsd:string property_value: symbol "KCNJ1" xsd:string [Term] id: Orphanet:122787 name: potassium inwardly-rectifying channel, subfamily J, member 11 xref: ENSEMBL:ENSG00000187486 xref: GENATLAS:KCNJ11 xref: HGNC:6257 xref: IUPHAR:442 xref: OMIM:600937 xref: REACTOME:Q14654 xref: UNIPROTKB/SWISSPROT:Q14654 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:276580 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant hyperinsulinism due to Kir6.2 deficiency relationship: Orphanet:317343 Orphanet:276603 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency relationship: Orphanet:317343 Orphanet:552 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MODY syndrome relationship: Orphanet:317343 Orphanet:79134 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! DEND syndrome relationship: Orphanet:317343 Orphanet:79644 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive hyperinsulinism due to Kir6.2 deficiency relationship: Orphanet:317343 Orphanet:99885 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Permanent neonatal diabetes mellitus relationship: Orphanet:317343 Orphanet:99886 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Transient neonatal diabetes mellitus property_value: alternative:term "BIR" xsd:string property_value: alternative:term "Kir6.2" xsd:string property_value: symbol "KCNJ11" xsd:string [Term] id: Orphanet:122791 name: potassium inwardly-rectifying channel, subfamily J, member 2 xref: ENSEMBL:ENSG00000123700 xref: GENATLAS:KCNJ2 xref: HGNC:6263 xref: IUPHAR:430 xref: OMIM:600681 xref: REACTOME:P63252 xref: UNIPROTKB/SWISSPROT:P63252 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial atrial fibrillation relationship: Orphanet:317343 Orphanet:37553 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cardiodysrhythmic potassium-sensitive periodic paralysis relationship: Orphanet:317343 Orphanet:51083 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial short QT syndrome property_value: alternative:term "IRK1" xsd:string property_value: alternative:term "Kir2.1" xsd:string property_value: alternative:term "LQT7" xsd:string property_value: symbol "KCNJ2" xsd:string [Term] id: Orphanet:122795 name: potassium large conductance calcium-activated channel, subfamily M, alpha member 1 xref: ENSEMBL:ENSG00000156113 xref: GENATLAS:KCNMA1 xref: HGNC:6284 xref: IUPHAR:380 xref: OMIM:600150 xref: REACTOME:Q12791 xref: UNIPROTKB/SWISSPROT:Q12791 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79137 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized epilepsy - paroxysmal dyskinesia property_value: alternative:term "BK channel alpha subunit" xsd:string property_value: alternative:term "KCa1.1" xsd:string property_value: alternative:term "mSLO1" xsd:string property_value: alternative:term "SLO" xsd:string property_value: symbol "KCNMA1" xsd:string [Term] id: Orphanet:1228 name: Banki syndrome xref: ICD10:Q68.1 xref: OMIM:109300 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93459 ! Syndrome with synostosis or other joint formation defect [Term] id: Orphanet:122800 name: potassium voltage-gated channel, KQT-like subfamily, member 1 xref: ENSEMBL:ENSG00000053918 xref: GENATLAS:KCNQ1 xref: HGNC:6294 xref: IUPHAR:560 xref: OMIM:607542 xref: REACTOME:P51787 xref: UNIPROTKB/SWISSPROT:P51787 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101016 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Romano-Ward syndrome relationship: Orphanet:317343 Orphanet:334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial atrial fibrillation relationship: Orphanet:317343 Orphanet:51083 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial short QT syndrome relationship: Orphanet:317343 Orphanet:90647 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Jervell and Lange-Nielsen syndrome property_value: alternative:term "Jervell and Lange-Nielsen syndrome 1" xsd:string property_value: alternative:term "JLNS1" xsd:string property_value: alternative:term "KCNA8" xsd:string property_value: alternative:term "KCNA9" xsd:string property_value: alternative:term "Kv7.1" xsd:string property_value: alternative:term "KVLQT1" xsd:string property_value: alternative:term "LQT" xsd:string property_value: alternative:term "LQT1" xsd:string property_value: symbol "KCNQ1" xsd:string [Term] id: Orphanet:122808 name: potassium voltage-gated channel, KQT-like subfamily, member 2 xref: ENSEMBL:ENSG00000075043 xref: GENATLAS:KCNQ2 xref: HGNC:6296 xref: IUPHAR:561 xref: OMIM:602235 xref: REACTOME:O43526 xref: UNIPROTKB/SWISSPROT:O43526 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:140927 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Benign familial neonatal-infantile seizures relationship: Orphanet:317343 Orphanet:1934 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early infantile epileptic encephalopathy relationship: Orphanet:317343 Orphanet:1949 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Benign familial neonatal seizures relationship: Orphanet:317343 Orphanet:306 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Benign familial infantile seizures property_value: alternative:term "BFNC" xsd:string property_value: alternative:term "EBN" xsd:string property_value: alternative:term "EBN1" xsd:string property_value: alternative:term "ENB1" xsd:string property_value: alternative:term "HNSPC" xsd:string property_value: alternative:term "KCNA11" xsd:string property_value: alternative:term "Kv7.2" xsd:string property_value: symbol "KCNQ2" xsd:string [Term] id: Orphanet:122817 name: potassium voltage-gated channel, KQT-like subfamily, member 3 xref: ENSEMBL:ENSG00000184156 xref: GENATLAS:KCNQ3 xref: HGNC:6297 xref: IUPHAR:562 xref: OMIM:602232 xref: REACTOME:O43525 xref: UNIPROTKB/SWISSPROT:O43525 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1949 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Benign familial neonatal seizures relationship: Orphanet:317343 Orphanet:306 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Benign familial infantile seizures relationship: Orphanet:317345 Orphanet:307 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Juvenile myoclonic epilepsy property_value: alternative:term "EBN2" xsd:string property_value: alternative:term "Kv7.3" xsd:string property_value: symbol "KCNQ3" xsd:string [Term] id: Orphanet:122821 name: potassium voltage-gated channel, KQT-like subfamily, member 4 xref: ENSEMBL:ENSG00000117013 xref: GENATLAS:KCNQ4 xref: HGNC:6298 xref: IUPHAR:563 xref: OMIM:603537 xref: REACTOME:P56696 xref: UNIPROTKB/SWISSPROT:P56696 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA property_value: alternative:term "DFNA2" xsd:string property_value: alternative:term "Kv7.4" xsd:string property_value: symbol "KCNQ4" xsd:string [Term] id: Orphanet:122825 name: keratocan xref: ENSEMBL:ENSG00000139330 xref: GENATLAS:KERA xref: HGNC:6309 xref: OMIM:603288 xref: REACTOME:O60938 xref: UNIPROTKB/SWISSPROT:O60938 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:53691 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital cornea plana property_value: alternative:term "CNA2" xsd:string property_value: alternative:term "keratocan proteoglycan" xsd:string property_value: alternative:term "SLRR2B" xsd:string property_value: symbol "KERA" xsd:string [Term] id: Orphanet:122829 name: ketohexokinase (fructokinase) xref: ENSEMBL:ENSG00000138030 xref: GENATLAS:KHK xref: HGNC:6315 xref: OMIM:614058 xref: REACTOME:P50053 xref: UNIPROTKB/SWISSPROT:P50053 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2056 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Essential fructosuria property_value: symbol "KHK" xsd:string [Term] id: Orphanet:122831 name: KIAA0196 xref: ENSEMBL:ENSG00000164961 xref: GENATLAS:KIAA0196 xref: HGNC:28984 xref: OMIM:610657 xref: UNIPROTKB/SWISSPROT:Q12768 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100989 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant spastic paraplegia type 8 relationship: Orphanet:317343 Orphanet:7 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 3C syndrome property_value: alternative:term "spastic paraplegia 8 (autosomal dominant)" xsd:string property_value: alternative:term "SPG8" xsd:string property_value: alternative:term "strumpellin" xsd:string property_value: symbol "KIAA0196" xsd:string [Term] id: Orphanet:122834 name: KIAA1279 xref: ENSEMBL:ENSG00000198954 xref: GENATLAS:KIAA1279 xref: HGNC:23419 xref: OMIM:609367 xref: UNIPROTKB/SWISSPROT:Q96EK5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:66629 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Goldberg-Shprintzen megacolon syndrome property_value: alternative:term "DKFZP586B0923" xsd:string property_value: alternative:term "TTC20" xsd:string property_value: symbol "KIAA1279" xsd:string [Term] id: Orphanet:122838 name: KIAA2022 xref: ENSEMBL:ENSG00000050030 xref: GENATLAS:KIAA2022 xref: HGNC:29433 xref: OMIM:300524 xref: UNIPROTKB/SWISSPROT:Q5QGS0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:85277 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intellectual deficit, X-linked, Cantagrel type property_value: alternative:term "XLMR-related protein, neurite extension" xsd:string property_value: alternative:term "XPN" xsd:string property_value: symbol "KIAA2022" xsd:string [Term] id: Orphanet:122840 name: kinesin family member 1B xref: ENSEMBL:ENSG00000054523 xref: GENATLAS:KIF1B xref: HGNC:16636 xref: OMIM:605995 xref: UNIPROTKB/SWISSPROT:O60333 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99946 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Charcot-Marie-Tooth disease type 2A1 property_value: alternative:term "CMT2" xsd:string property_value: alternative:term "CMT2A" xsd:string property_value: alternative:term "HMSNII" xsd:string property_value: alternative:term "KIAA0591" xsd:string property_value: alternative:term "KLP" xsd:string property_value: symbol "KIF1B" xsd:string [Term] id: Orphanet:122847 name: kinesin family member 21A xref: ENSEMBL:ENSG00000139116 xref: GENATLAS:KIF21A xref: HGNC:19349 xref: OMIM:608283 xref: UNIPROTKB/SWISSPROT:Q7Z4S6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:45358 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital fibrosis of extraocular muscles property_value: alternative:term "FEOM1" xsd:string property_value: alternative:term "fibrosis of the extraocular muscles, congenital, 1" xsd:string property_value: alternative:term "FLJ20052" xsd:string property_value: symbol "KIF21A" xsd:string [Term] id: Orphanet:122851 name: kinesin family member 5A xref: ENSEMBL:ENSG00000155980 xref: GENATLAS:KIF5A xref: HGNC:6323 xref: OMIM:602821 xref: REACTOME:Q12840 xref: UNIPROTKB/SWISSPROT:Q12840 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100991 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant spastic paraplegia type 10 relationship: Orphanet:317343 Orphanet:324611 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation property_value: alternative:term "D12S1889" xsd:string property_value: alternative:term "MY050" xsd:string property_value: alternative:term "NKHC" xsd:string property_value: alternative:term "spastic paraplegia 10 (autosomal dominant)" xsd:string property_value: alternative:term "SPG10" xsd:string property_value: symbol "KIF5A" xsd:string [Term] id: Orphanet:122857 name: KISS1 receptor xref: ENSEMBL:ENSG00000116014 xref: GENATLAS:KISS1R xref: HGNC:4510 xref: IUPHAR:266 xref: OMIM:604161 xref: REACTOME:Q969F8 xref: UNIPROTKB/SWISSPROT:Q969F8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:432 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Normosmic congenital hypogonadotropic hypogonadism relationship: Orphanet:317343 Orphanet:478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kallmann syndrome property_value: alternative:term "AXOR12" xsd:string property_value: alternative:term "G protein-coupled receptor 54" xsd:string property_value: alternative:term "GPR54" xsd:string property_value: alternative:term "HOT7T175" xsd:string property_value: symbol "KISS1R" xsd:string [Term] id: Orphanet:122862 name: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog xref: ENSEMBL:ENSG00000157404 xref: GENATLAS:KIT xref: HGNC:6342 xref: IUPHAR:1805 xref: OMIM:164920 xref: REACTOME:P10721 xref: UNIPROTKB/SWISSPROT:P10721 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280785 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bullous diffuse cutaneous mastocytosis relationship: Orphanet:317343 Orphanet:280794 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pseudoxanthomatous diffuse cutaneous mastocytosis relationship: Orphanet:317343 Orphanet:2884 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Piebaldism relationship: Orphanet:317343 Orphanet:79455 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cutaneous mastocytoma relationship: Orphanet:317343 Orphanet:79457 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maculopapular cutaneous mastocytosis relationship: Orphanet:317343 Orphanet:90389 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Telangiectasia macularis eruptiva perstans relationship: Orphanet:317344 Orphanet:158796 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Classic mast cell leukemia relationship: Orphanet:317344 Orphanet:158799 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Aleukemic mast cell leukemia relationship: Orphanet:317344 Orphanet:44890 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gastrointestinal stromal tumor relationship: Orphanet:317344 Orphanet:98834 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Acute myeloblastic leukemia with maturation relationship: Orphanet:317344 Orphanet:98848 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Indolent systemic mastocytosis relationship: Orphanet:317344 Orphanet:98849 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease relationship: Orphanet:317344 Orphanet:98850 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Aggressive systemic mastocytosis relationship: Orphanet:317347 Orphanet:102724 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute myeloid leukemia with t(8;21)(q22;q22) translocation relationship: Orphanet:317347 Orphanet:98829 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) property_value: alternative:term "C-Kit" xsd:string property_value: alternative:term "CD117" xsd:string property_value: alternative:term "PBT" xsd:string property_value: alternative:term "piebald trait" xsd:string property_value: alternative:term "SCFR" xsd:string property_value: symbol "KIT" xsd:string [Term] id: Orphanet:122868 name: Kruppel-like factor 11 xref: ENSEMBL:ENSG00000172059 xref: GENATLAS:KLF11 xref: HGNC:11811 xref: OMIM:603301 xref: UNIPROTKB/SWISSPROT:O14901 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:552 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MODY syndrome property_value: alternative:term "MODY7" xsd:string property_value: alternative:term "TGFB inducible early growth response 2" xsd:string property_value: alternative:term "TIEG2" xsd:string property_value: alternative:term "Tieg3" xsd:string property_value: symbol "KLF11" xsd:string [Term] id: Orphanet:122872 name: kallikrein B, plasma (Fletcher factor) 1 xref: ENSEMBL:ENSG00000164344 xref: GENATLAS:KLKB1 xref: HGNC:6371 xref: IUPHAR:2379 xref: OMIM:229000 xref: REACTOME:P03952 xref: UNIPROTKB/SWISSPROT:P03952 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:749 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital prekallikrein deficiency property_value: alternative:term "KLK3" xsd:string property_value: symbol "KLKB1" xsd:string [Term] id: Orphanet:122875 name: kininogen 1 xref: ENSEMBL:ENSG00000113889 xref: GENATLAS:KNG1 xref: HGNC:6383 xref: OMIM:612358 xref: REACTOME:P01042 xref: UNIPROTKB/SWISSPROT:P01042 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:483 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital high-molecular-weight kininogen deficiency property_value: alternative:term "alpha-2-thiol proteinase inhibitor" xsd:string property_value: alternative:term "BDK" xsd:string property_value: alternative:term "BK" xsd:string property_value: alternative:term "bradykinin" xsd:string property_value: alternative:term "kininogen" xsd:string property_value: alternative:term "KNG" xsd:string property_value: symbol "KNG1" xsd:string [Term] id: Orphanet:122879 name: Kirsten rat sarcoma viral oncogene homolog xref: ENSEMBL:ENSG00000133703 xref: GENATLAS:KRAS xref: HGNC:6407 xref: OMIM:190070 xref: REACTOME:P01116 xref: UNIPROTKB/SWISSPROT:P01116 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1333 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial pancreatic carcinoma relationship: Orphanet:317343 Orphanet:1340 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cardiofaciocutaneous syndrome relationship: Orphanet:317343 Orphanet:3071 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Costello syndrome relationship: Orphanet:317343 Orphanet:648 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Noonan syndrome relationship: Orphanet:317344 Orphanet:251612 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pilocytic astrocytoma relationship: Orphanet:317344 Orphanet:2612 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Linear nevus sebaceus syndrome relationship: Orphanet:317344 Orphanet:86834 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Juvenile myelomonocytic leukemia relationship: Orphanet:317347 Orphanet:144 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary nonpolyposis colon cancer property_value: alternative:term "KRAS1" xsd:string property_value: alternative:term "KRAS2" xsd:string property_value: alternative:term "v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog" xsd:string property_value: alternative:term "V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog" xsd:string property_value: symbol "KRAS" xsd:string [Term] id: Orphanet:122883 name: KRIT1, ankyrin repeat containing xref: ENSEMBL:ENSG00000001631 xref: GENATLAS:KRIT1 xref: HGNC:1573 xref: OMIM:604214 xref: UNIPROTKB/SWISSPROT:O00522 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:221061 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary cerebral cavernous malformation property_value: alternative:term "CAM" xsd:string property_value: alternative:term "CCM1" xsd:string property_value: alternative:term "cerebral cavernous malformations 1" xsd:string property_value: symbol "KRIT1" xsd:string [Term] id: Orphanet:122887 name: keratin 1 xref: ENSEMBL:ENSG00000167768 xref: GENATLAS:KRT1 xref: HGNC:6412 xref: OMIM:139350 xref: UNIPROTKB/SWISSPROT:P04264 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2199 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epidermolytic palmoplantar keratoderma relationship: Orphanet:317343 Orphanet:281139 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Annular epidermolytic ichthyosis relationship: Orphanet:317343 Orphanet:312 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epidermolytic ichthyosis relationship: Orphanet:317343 Orphanet:50942 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Keratosis palmoplantaris striata relationship: Orphanet:317343 Orphanet:79503 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ichthyosis hystrix of Curth-Macklin property_value: alternative:term "EHK1" xsd:string property_value: alternative:term "epidermolytic hyperkeratosis 1" xsd:string property_value: alternative:term "KRT1A" xsd:string property_value: symbol "KRT1" xsd:string [Term] id: Orphanet:122891 name: keratin 10 xref: ENSEMBL:ENSG00000186395 xref: GENATLAS:KRT10 xref: HGNC:6413 xref: OMIM:148080 xref: UNIPROTKB/SWISSPROT:P13645 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:281139 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Annular epidermolytic ichthyosis relationship: Orphanet:317343 Orphanet:281190 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital reticular ichthyosiform erythroderma relationship: Orphanet:317343 Orphanet:312 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epidermolytic ichthyosis property_value: alternative:term "CK10" xsd:string property_value: alternative:term "cytokeratin 10" xsd:string property_value: alternative:term "epidermolytic hyperkeratosis" xsd:string property_value: alternative:term "K10" xsd:string property_value: alternative:term "keratosis palmaris et plantaris" xsd:string property_value: alternative:term "KPP" xsd:string property_value: symbol "KRT10" xsd:string [Term] id: Orphanet:122894 name: keratin 12 xref: ENSEMBL:ENSG00000187242 xref: GENATLAS:KRT12 xref: HGNC:6414 xref: OMIM:601687 xref: UNIPROTKB/SWISSPROT:Q99456 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98954 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Meesmann corneal dystrophy property_value: alternative:term "K12" xsd:string property_value: alternative:term "Keratin 12 (Meesmann corneal dystrophy)" xsd:string property_value: alternative:term "Meesmann corneal dystrophy" xsd:string property_value: symbol "KRT12" xsd:string [Term] id: Orphanet:122897 name: keratin 14 xref: ENSEMBL:ENSG00000186847 xref: GENATLAS:KRT14 xref: HGNC:6416 xref: OMIM:148066 xref: REACTOME:P02533 xref: UNIPROTKB/SWISSPROT:P02533 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:69087 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Naegeli-Franceschetti-Jadassohn syndrome relationship: Orphanet:317343 Orphanet:79396 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epidermolysis bullosa simplex, Dowling-Meara type relationship: Orphanet:317343 Orphanet:79397 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epidermolysis bullosa simplex with mottled pigmentation relationship: Orphanet:317343 Orphanet:79399 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized epidermolysis bullosa simplex, non-Dowling-Meara type relationship: Orphanet:317343 Orphanet:79400 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Localized epidermolysis bullosa simplex relationship: Orphanet:317343 Orphanet:86920 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dermatopathia pigmentosa reticularis relationship: Orphanet:317343 Orphanet:89838 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive epidermolysis bullosa simplex property_value: alternative:term "EBS3" xsd:string property_value: alternative:term "EBS4" xsd:string property_value: alternative:term "epidermolysis bullosa simplex, Dowling-Meara, Koebner" xsd:string property_value: alternative:term "Keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)" xsd:string property_value: symbol "KRT14" xsd:string [Term] id: Orphanet:1229 name: Congenital intrauterine infection-like syndrome xref: ICD10:Q87.8 xref: OMIM:251290 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:71859 ! Rare genetic neurological disease relationship: part_of Orphanet:98006 ! Rare neurologic disease property_value: alternative:term "Baraitser-Brett-Piesowicz syndrome" xsd:string property_value: alternative:term "Baraitser-Reardon syndrome" xsd:string property_value: alternative:term "Microcephaly - intracranial calcification - intellectual deficit" xsd:string property_value: alternative:term "Pseudo-TORCH syndrome" xsd:string [Term] id: Orphanet:122901 name: keratin 16 xref: ENSEMBL:ENSG00000186832 xref: GENATLAS:KRT16 xref: HGNC:6423 xref: OMIM:148067 xref: UNIPROTKB/SWISSPROT:P08779 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2199 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epidermolytic palmoplantar keratoderma relationship: Orphanet:317343 Orphanet:2309 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pachyonychia congenita property_value: alternative:term "focal non-epidermolytic palmoplantar keratoderma" xsd:string property_value: alternative:term "Keratin 16 (focal non-epidermolytic palmoplantar keratoderma)" xsd:string property_value: alternative:term "NEPPK" xsd:string property_value: symbol "KRT16" xsd:string [Term] id: Orphanet:122904 name: keratin 17 xref: ENSEMBL:ENSG00000128422 xref: GENATLAS:KRT17 xref: HGNC:6427 xref: OMIM:148069 xref: UNIPROTKB/SWISSPROT:Q04695 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2309 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pachyonychia congenita relationship: Orphanet:317343 Orphanet:841 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sebocystomatosis property_value: alternative:term "PCHC1" xsd:string property_value: symbol "KRT17" xsd:string [Term] id: Orphanet:122907 name: keratin 2 xref: ENSEMBL:ENSG00000172867 xref: GENATLAS:KRT2 xref: HGNC:6439 xref: OMIM:600194 xref: UNIPROTKB/SWISSPROT:P35908 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:455 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Superficial epidermolytic ichthyosis property_value: alternative:term "epidermal ichthyosis bullosa of Siemens" xsd:string property_value: alternative:term "Keratin 2 (epidermal ichthyosis bullosa of Siemens)" xsd:string property_value: alternative:term "keratin 2A (epidermal ichthyosis bullosa of Siemens)" xsd:string property_value: alternative:term "KRT2A" xsd:string property_value: alternative:term "KRTE" xsd:string property_value: symbol "KRT2" xsd:string [Term] id: Orphanet:122911 name: keratin 3 xref: ENSEMBL:ENSG00000186442 xref: GENATLAS:KRT3 xref: HGNC:6440 xref: OMIM:148043 xref: UNIPROTKB/SWISSPROT:P12035 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98954 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Meesmann corneal dystrophy property_value: alternative:term "CK3" xsd:string property_value: alternative:term "cytokeratin 3" xsd:string property_value: alternative:term "K3" xsd:string property_value: alternative:term "keratin, type II cytoskeletal 3" xsd:string property_value: symbol "KRT3" xsd:string [Term] id: Orphanet:122913 name: keratin 5 xref: ENSEMBL:ENSG00000186081 xref: GENATLAS:KRT5 xref: HGNC:6442 xref: OMIM:148040 xref: REACTOME:P13647 xref: UNIPROTKB/SWISSPROT:P13647 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:158681 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epidermolysis bullosa simplex with circinate migratory erythema relationship: Orphanet:317343 Orphanet:79145 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dowling-Degos disease relationship: Orphanet:317343 Orphanet:79396 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epidermolysis bullosa simplex, Dowling-Meara type relationship: Orphanet:317343 Orphanet:79397 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epidermolysis bullosa simplex with mottled pigmentation relationship: Orphanet:317343 Orphanet:79399 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized epidermolysis bullosa simplex, non-Dowling-Meara type relationship: Orphanet:317343 Orphanet:79400 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Localized epidermolysis bullosa simplex property_value: alternative:term "EBS2" xsd:string property_value: alternative:term "epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types" xsd:string property_value: alternative:term "Keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)" xsd:string property_value: alternative:term "KRT5A" xsd:string property_value: symbol "KRT5" xsd:string [Term] id: Orphanet:122917 name: keratin 6A xref: ENSEMBL:ENSG00000205420 xref: GENATLAS:KRT6A xref: HGNC:6443 xref: OMIM:148041 xref: UNIPROTKB/SWISSPROT:P02538 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2309 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pachyonychia congenita property_value: alternative:term "CK6C" xsd:string property_value: alternative:term "CK6D" xsd:string property_value: alternative:term "K6C" xsd:string property_value: alternative:term "K6D" xsd:string property_value: alternative:term "keratin 6C" xsd:string property_value: alternative:term "keratin 6D" xsd:string property_value: alternative:term "KRT6C" xsd:string property_value: alternative:term "KRT6D" xsd:string property_value: symbol "KRT6A" xsd:string [Term] id: Orphanet:122925 name: keratin 6B xref: ENSEMBL:ENSG00000185479 xref: GENATLAS:KRT6B xref: HGNC:6444 xref: OMIM:148042 xref: UNIPROTKB/SWISSPROT:P04259 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2309 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pachyonychia congenita property_value: alternative:term "keratin-like 1 (a type II keratin sequence)" xsd:string property_value: alternative:term "KRTL1" xsd:string property_value: symbol "KRT6B" xsd:string [Term] id: Orphanet:122928 name: keratin 81 xref: ENSEMBL:ENSG00000205426 xref: GENATLAS:KRT81 xref: HGNC:6458 xref: OMIM:602153 xref: UNIPROTKB/SWISSPROT:Q14533 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:573 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Monilethrix property_value: alternative:term "hard keratin type II 1" xsd:string property_value: alternative:term "Hb-1" xsd:string property_value: alternative:term "keratin, hair, basic, 1" xsd:string property_value: alternative:term "KRTHB1" xsd:string property_value: symbol "KRT81" xsd:string [Term] id: Orphanet:122932 name: keratin 83 xref: ENSEMBL:ENSG00000170523 xref: GENATLAS:KRT83 xref: HGNC:6460 xref: OMIM:602765 xref: UNIPROTKB/SWISSPROT:P78385 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:573 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Monilethrix property_value: alternative:term "hard keratin type II" xsd:string property_value: alternative:term "Hb-3" xsd:string property_value: alternative:term "keratin, hair, basic, 3" xsd:string property_value: alternative:term "KRTHB3" xsd:string property_value: symbol "KRT83" xsd:string [Term] id: Orphanet:122936 name: keratin 85 xref: ENSEMBL:ENSG00000135443 xref: GENATLAS:KRT85 xref: HGNC:6462 xref: OMIM:602767 xref: UNIPROTKB/SWISSPROT:P78386 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:69084 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pure hair and nail ectodermal dysplasia property_value: alternative:term "hard keratin type II" xsd:string property_value: alternative:term "Hb-5" xsd:string property_value: alternative:term "keratin, hair, basic, 5" xsd:string property_value: alternative:term "KRTHB5" xsd:string property_value: symbol "KRT85" xsd:string [Term] id: Orphanet:122940 name: keratin 86 xref: ENSEMBL:ENSG00000170442 xref: GENATLAS:KRT86 xref: HGNC:6463 xref: OMIM:601928 xref: UNIPROTKB/SWISSPROT:O43790 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:573 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Monilethrix property_value: alternative:term "hard keratin type II 6" xsd:string property_value: alternative:term "Hb6" xsd:string property_value: alternative:term "keratin, hair, basic, 6 (monilethrix)" xsd:string property_value: alternative:term "KRTHB6" xsd:string property_value: alternative:term "MNX" xsd:string property_value: symbol "KRT86" xsd:string [Term] id: Orphanet:122945 name: keratin 9 xref: ENSEMBL:ENSG00000171403 xref: GENATLAS:KRT9 xref: HGNC:6447 xref: OMIM:607606 xref: UNIPROTKB/SWISSPROT:P35527 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2199 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epidermolytic palmoplantar keratoderma property_value: alternative:term "CK-9" xsd:string property_value: alternative:term "cytokeratin 9" xsd:string property_value: alternative:term "epidermolytic palmoplantar keratoderma" xsd:string property_value: alternative:term "EPPK" xsd:string property_value: alternative:term "K9" xsd:string property_value: alternative:term "Keratin 9 (epidermolytic palmoplantar keratoderma)" xsd:string property_value: alternative:term "type I cytoskeletal 9" xsd:string property_value: symbol "KRT9" xsd:string [Term] id: Orphanet:122948 name: L1 cell adhesion molecule xref: ENSEMBL:ENSG00000198910 xref: GENATLAS:L1CAM xref: HGNC:6470 xref: OMIM:308840 xref: REACTOME:P32004 xref: UNIPROTKB/SWISSPROT:P32004 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1497 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked complicated corpus callosum dysgenesis relationship: Orphanet:317343 Orphanet:2182 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hydrocephalus with stenosis of aqueduct of Sylvius relationship: Orphanet:317343 Orphanet:2466 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MASA syndrome relationship: Orphanet:317343 Orphanet:306617 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked complicated spastic paraplegia type 1 relationship: Orphanet:317345 Orphanet:388 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hirschsprung disease property_value: alternative:term "antigen identified by monoclonal antibody R1" xsd:string property_value: alternative:term "CD171" xsd:string property_value: alternative:term "HSAS" xsd:string property_value: alternative:term "HSAS1" xsd:string property_value: alternative:term "MASA" xsd:string property_value: alternative:term "MIC5" xsd:string property_value: alternative:term "S10" xsd:string property_value: alternative:term "SPG1" xsd:string property_value: symbol "L1CAM" xsd:string [Term] id: Orphanet:122957 name: L-2-hydroxyglutarate dehydrogenase xref: ENSEMBL:ENSG00000087299 xref: GENATLAS:L2HGDH xref: HGNC:20499 xref: OMIM:609584 xref: REACTOME:Q9H9P8 xref: UNIPROTKB/SWISSPROT:Q9H9P8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79314 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! L-2-hydroxyglutaric aciduria property_value: alternative:term "2-hydroxyglutarate dehydrogenase" xsd:string property_value: alternative:term "C14orf160" xsd:string property_value: alternative:term "chromosome 14 open reading frame 160" xsd:string property_value: alternative:term "FLJ12618" xsd:string property_value: symbol "L2HGDH" xsd:string [Term] id: Orphanet:122961 name: laminin, alpha 2 xref: ENSEMBL:ENSG00000196569 xref: GENATLAS:LAMA2 xref: HGNC:6482 xref: OMIM:156225 xref: REACTOME:P24043 xref: UNIPROTKB/SWISSPROT:P24043 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:258 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital muscular dystrophy type 1A property_value: alternative:term "congenital muscular dystrophy" xsd:string property_value: alternative:term "Laminin, alpha 2 (merosin, congenital muscular dystrophy)" xsd:string property_value: alternative:term "LAMM" xsd:string property_value: alternative:term "merosin" xsd:string property_value: symbol "LAMA2" xsd:string [Term] id: Orphanet:122964 name: laminin, alpha 3 xref: ENSEMBL:ENSG00000053747 xref: GENATLAS:LAMA3 xref: HGNC:6483 xref: OMIM:600805 xref: REACTOME:Q16787 xref: UNIPROTKB/SWISSPROT:Q16787 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2407 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! LOC syndrome relationship: Orphanet:317343 Orphanet:79402 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized junctional epidermolysis bullosa, non-Herlitz type relationship: Orphanet:317343 Orphanet:79404 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Junctional epidermolysis bullosa, Herlitz type property_value: alternative:term "BM600-150kDa" xsd:string property_value: alternative:term "epiligrin" xsd:string property_value: alternative:term "kalinin-165kDa" xsd:string property_value: alternative:term "laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)" xsd:string property_value: alternative:term "LAMNA" xsd:string property_value: alternative:term "nicein-150kDa" xsd:string property_value: symbol "LAMA3" xsd:string [Term] id: Orphanet:122971 name: laminin, beta 2 (laminin S) xref: ENSEMBL:ENSG00000172037 xref: GENATLAS:LAMB2 xref: HGNC:6487 xref: OMIM:150325 xref: REACTOME:P55268 xref: UNIPROTKB/SWISSPROT:P55268 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2670 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pierson syndrome relationship: Orphanet:317343 Orphanet:306507 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! LAMB-2-related infantile-onset nephrotic syndrome relationship: Orphanet:317343 Orphanet:98915 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Synaptic congenital myasthenic syndromes property_value: alternative:term "laminin S" xsd:string property_value: alternative:term "LAMS" xsd:string property_value: symbol "LAMB2" xsd:string [Term] id: Orphanet:122974 name: laminin, beta 3 xref: ENSEMBL:ENSG00000196878 xref: GENATLAS:LAMB3 xref: HGNC:6490 xref: OMIM:150310 xref: REACTOME:Q13751 xref: UNIPROTKB/SWISSPROT:Q13751 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79402 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized junctional epidermolysis bullosa, non-Herlitz type relationship: Orphanet:317343 Orphanet:79404 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Junctional epidermolysis bullosa, Herlitz type property_value: alternative:term "BM600-125kDa" xsd:string property_value: alternative:term "kalinin-140kDa" xsd:string property_value: alternative:term "laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))" xsd:string property_value: alternative:term "LAMNB1" xsd:string property_value: alternative:term "nicein-125kDa" xsd:string property_value: symbol "LAMB3" xsd:string [Term] id: Orphanet:122980 name: laminin, gamma 2 xref: ENSEMBL:ENSG00000058085 xref: GENATLAS:LAMC2 xref: HGNC:6493 xref: OMIM:150292 xref: REACTOME:Q13753 xref: UNIPROTKB/SWISSPROT:Q13753 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79402 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized junctional epidermolysis bullosa, non-Herlitz type relationship: Orphanet:317343 Orphanet:79404 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Junctional epidermolysis bullosa, Herlitz type relationship: Orphanet:317343 Orphanet:79405 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Junctional epidermolysis bullosa inversa property_value: alternative:term "BM600-100kDa" xsd:string property_value: alternative:term "EBR2" xsd:string property_value: alternative:term "EBR2A" xsd:string property_value: alternative:term "kalinin-105kDa" xsd:string property_value: alternative:term "LAMB2T" xsd:string property_value: alternative:term "laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))" xsd:string property_value: alternative:term "LAMNB2" xsd:string property_value: alternative:term "nicein-100kDa" xsd:string property_value: symbol "LAMC2" xsd:string [Term] id: Orphanet:122989 name: lysosomal-associated membrane protein 2 xref: ENSEMBL:ENSG00000005893 xref: GENATLAS:LAMP2 xref: HGNC:6501 xref: OMIM:309060 xref: REACTOME:P13473 xref: UNIPROTKB/SWISSPROT:P13473 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:34587 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to LAMP-2 deficiency property_value: alternative:term "CD107b" xsd:string property_value: symbol "LAMP2" xsd:string [Term] id: Orphanet:122992 name: like-glycosyltransferase xref: ENSEMBL:ENSG00000133424 xref: GENATLAS:LARGE xref: HGNC:6511 xref: OMIM:603590 xref: UNIPROTKB/SWISSPROT:O95461 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:370968 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital muscular dystrophy with intellectual disability relationship: Orphanet:317343 Orphanet:588 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Muscle-eye-brain disease relationship: Orphanet:317343 Orphanet:899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Walker-Warburg syndrome property_value: alternative:term "KIAA0609" xsd:string property_value: symbol "LARGE" xsd:string [Term] id: Orphanet:122995 name: linker for activation of T cells family, member 2 xref: ENSEMBL:ENSG00000086730 xref: GENATLAS:LAT2 xref: HGNC:12749 xref: OMIM:605719 xref: REACTOME:Q9GZY6 xref: UNIPROTKB/SWISSPROT:Q9GZY6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Williams syndrome property_value: alternative:term "HSPC046" xsd:string property_value: alternative:term "LAB" xsd:string property_value: alternative:term "linker for activation of B cells" xsd:string property_value: alternative:term "linker for activation of T cells, transmembrane adaptor 2" xsd:string property_value: alternative:term "non-T cell activation linker" xsd:string property_value: alternative:term "NTAL" xsd:string property_value: alternative:term "WBSCR15" xsd:string property_value: alternative:term "WBSCR5" xsd:string property_value: alternative:term "Williams-Beuren syndrome chromosome region 5" xsd:string property_value: alternative:term "WSCR5" xsd:string property_value: symbol "LAT2" xsd:string [Term] id: Orphanet:123 name: Björnstad syndrome xref: MESH:C537633 xref: OMIM:262000 xref: SNOMED CT:67817003 xref: UMLS:C0266006 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309136 ! Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes relationship: part_of Orphanet:79366 ! Isolated hair shaft abnormality property_value: alternative:term "Deafness - pili torti - hypogonadism" xsd:string [Term] id: Orphanet:123003 name: lamin B receptor xref: ENSEMBL:ENSG00000143815 xref: GENATLAS:LBR xref: HGNC:6518 xref: OMIM:600024 xref: REACTOME:Q14739 xref: UNIPROTKB/SWISSPROT:Q14739 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1426 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Greenberg dysplasia relationship: Orphanet:317345 Orphanet:779 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Reynolds syndrome property_value: alternative:term "DHCR14B" xsd:string property_value: alternative:term "TDRD18" xsd:string property_value: alternative:term "tudor domain containing 18" xsd:string property_value: symbol "LBR" xsd:string [Term] id: Orphanet:123006 name: lecithin-cholesterol acyltransferase xref: ENSEMBL:ENSG00000213398 xref: GENATLAS:LCAT xref: HGNC:6522 xref: OMIM:606967 xref: REACTOME:P04180 xref: UNIPROTKB/SWISSPROT:P04180 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79292 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fish-eye disease relationship: Orphanet:317343 Orphanet:79293 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial LCAT deficiency property_value: symbol "LCAT" xsd:string [Term] id: Orphanet:123008 name: lactase xref: ENSEMBL:ENSG00000115850 xref: GENATLAS:LCT xref: HGNC:6530 xref: OMIM:603202 xref: REACTOME:P09848 xref: UNIPROTKB/SWISSPROT:P09848 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:53690 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital lactase deficiency property_value: symbol "LCT" xsd:string [Term] id: Orphanet:123010 name: LIM domain binding 3 xref: ENSEMBL:ENSG00000122367 xref: GENATLAS:LDB3 xref: HGNC:15710 xref: OMIM:605906 xref: UNIPROTKB/SWISSPROT:O75112 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317343 Orphanet:609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tibial muscular dystrophy relationship: Orphanet:317343 Orphanet:98912 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! ZASP-related myofibrillar myopathy relationship: Orphanet:317345 Orphanet:54260 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Left ventricular noncompaction property_value: alternative:term "cypher" xsd:string property_value: alternative:term "KIAA0613" xsd:string property_value: alternative:term "oracle" xsd:string property_value: alternative:term "PDLIM6" xsd:string property_value: alternative:term "Z-band alternatively spliced PDZ motif protein" xsd:string property_value: alternative:term "ZASP" xsd:string property_value: symbol "LDB3" xsd:string [Term] id: Orphanet:123015 name: lactate dehydrogenase A xref: ENSEMBL:ENSG00000134333 xref: GENATLAS:LDHA xref: HGNC:6535 xref: OMIM:150000 xref: REACTOME:P00338 xref: UNIPROTKB/SWISSPROT:P00338 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:284426 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency property_value: symbol "LDHA" xsd:string [Term] id: Orphanet:123017 name: lactate dehydrogenase B xref: ENSEMBL:ENSG00000111716 xref: GENATLAS:LDHB xref: HGNC:6541 xref: OMIM:150100 xref: REACTOME:P07195 xref: UNIPROTKB/SWISSPROT:P07195 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:284435 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency property_value: symbol "LDHB" xsd:string [Term] id: Orphanet:123031 name: LEM domain containing 3 xref: ENSEMBL:ENSG00000174106 xref: GENATLAS:LEMD3 xref: HGNC:28887 xref: OMIM:607844 xref: REACTOME:Q9Y2U8 xref: UNIPROTKB/SWISSPROT:Q9Y2U8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1306 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Buschke-Ollendorff syndrome relationship: Orphanet:317343 Orphanet:166119 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated osteopoikilosis relationship: Orphanet:317343 Orphanet:1879 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Melorheostosis with osteopoikilosis relationship: Orphanet:317349 Orphanet:94063 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 12q14 microdeletion syndrome property_value: alternative:term "MAN1" xsd:string property_value: symbol "LEMD3" xsd:string [Term] id: Orphanet:123034 name: leptin xref: ENSEMBL:ENSG00000174697 xref: GENATLAS:LEP xref: HGNC:6553 xref: OMIM:164160 xref: REACTOME:P41159 xref: UNIPROTKB/SWISSPROT:P41159 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:66628 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Obesity due to congenital leptin deficiency property_value: alternative:term "leptin (murine obesity homolog)" xsd:string property_value: alternative:term "Leptin (obesity homolog, mouse)" xsd:string property_value: alternative:term "OB" xsd:string property_value: alternative:term "OBS" xsd:string property_value: symbol "LEP" xsd:string [Term] id: Orphanet:123038 name: leptin receptor xref: ENSEMBL:ENSG00000116678 xref: GENATLAS:LEPR xref: HGNC:6554 xref: OMIM:601007 xref: REACTOME:P48357 xref: UNIPROTKB/SWISSPROT:P48357 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:179494 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Obesity due to leptin receptor gene deficiency property_value: alternative:term "CD295" xsd:string property_value: alternative:term "OBR" xsd:string property_value: symbol "LEPR" xsd:string [Term] id: Orphanet:123042 name: leucine-rich, glioma inactivated 1 xref: ENSEMBL:ENSG00000108231 xref: GENATLAS:LGI1 xref: HGNC:6572 xref: OMIM:604619 xref: UNIPROTKB/SWISSPROT:O95970 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101046 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant epilepsy with auditory features property_value: alternative:term "epilepsy, partial" xsd:string property_value: alternative:term "EPITEMPIN" xsd:string property_value: alternative:term "EPT" xsd:string property_value: alternative:term "ETL1" xsd:string property_value: alternative:term "IB1099" xsd:string property_value: symbol "LGI1" xsd:string [Term] id: Orphanet:123046 name: luteinizing hormone beta polypeptide xref: ENSEMBL:ENSG00000104826 xref: GENATLAS:LHB xref: HGNC:6584 xref: OMIM:152780 xref: REACTOME:P01229 xref: UNIPROTKB/SWISSPROT:P01229 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:325448 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leydig cell hypoplasia due to LHB deficiency property_value: alternative:term "CGB4" xsd:string property_value: alternative:term "hLHB" xsd:string property_value: alternative:term "interstitial cell stimulating hormone, beta chain" xsd:string property_value: alternative:term "LSH-B" xsd:string property_value: alternative:term "luteinizing hormone beta subunit" xsd:string property_value: alternative:term "lutropin, beta chain" xsd:string property_value: symbol "LHB" xsd:string [Term] id: Orphanet:123048 name: luteinizing hormone/choriogonadotropin receptor xref: ENSEMBL:ENSG00000138039 xref: GENATLAS:LHCGR xref: HGNC:6585 xref: IUPHAR:254 xref: OMIM:152790 xref: REACTOME:P22888 xref: UNIPROTKB/SWISSPROT:P22888 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3000 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Testotoxicosis relationship: Orphanet:317343 Orphanet:96265 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leydig cell hypoplasia due to complete LH resistance relationship: Orphanet:317343 Orphanet:96266 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leydig cell hypoplasia due to partial LH resistance property_value: alternative:term "HHG" xsd:string property_value: alternative:term "hypergonadotropic hypogonadism" xsd:string property_value: alternative:term "LCGR" xsd:string property_value: alternative:term "LGR2" xsd:string property_value: alternative:term "LHR" xsd:string property_value: alternative:term "ULG5" xsd:string property_value: symbol "LHCGR" xsd:string [Term] id: Orphanet:123053 name: LIM homeobox 3 xref: ENSEMBL:ENSG00000107187 xref: GENATLAS:LHX3 xref: HGNC:6595 xref: OMIM:600577 xref: UNIPROTKB/SWISSPROT:Q9UBR4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:226307 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypothyroidism due to deficient transcription factors involved in pituitary development or function relationship: Orphanet:317343 Orphanet:231720 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nonacquired combined pituitary hormone deficiency with spine abnormalities property_value: symbol "LHX3" xsd:string [Term] id: Orphanet:123055 name: leukemia inhibitory factor receptor alpha xref: ENSEMBL:ENSG00000113594 xref: GENATLAS:LIFR xref: HGNC:6597 xref: OMIM:151443 xref: UNIPROTKB/SWISSPROT:P42702 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3206 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Stüve-Wiedemann syndrome property_value: alternative:term "CD118" xsd:string property_value: alternative:term "leukemia inhibitory factor receptor" xsd:string property_value: symbol "LIFR" xsd:string [Term] id: Orphanet:123058 name: ligase IV, DNA, ATP-dependent xref: ENSEMBL:ENSG00000174405 xref: GENATLAS:LIG4 xref: HGNC:6601 xref: OMIM:601837 xref: REACTOME:P49917 xref: UNIPROTKB/SWISSPROT:P49917 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:39041 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Omenn syndrome relationship: Orphanet:317343 Orphanet:99812 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! LIG4 syndrome property_value: alternative:term "DNA joinase" xsd:string property_value: alternative:term "DNA repair enzyme" xsd:string property_value: alternative:term "polydeoxyribonucleotide synthase [ATP] 4" xsd:string property_value: alternative:term "polynucleotide ligase" xsd:string property_value: alternative:term "sealase" xsd:string property_value: symbol "LIG4" xsd:string [Term] id: Orphanet:123060 name: LIM domain kinase 1 xref: ENSEMBL:ENSG00000106683 xref: GENATLAS:LIMK1 xref: HGNC:6613 xref: IUPHAR:2054 xref: OMIM:601329 xref: REACTOME:P53667 xref: UNIPROTKB/SWISSPROT:P53667 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Williams syndrome property_value: alternative:term "LIMK" xsd:string property_value: symbol "LIMK1" xsd:string [Term] id: Orphanet:123063 name: lipase A, lysosomal acid, cholesterol esterase xref: ENSEMBL:ENSG00000107798 xref: GENATLAS:LIPA xref: HGNC:6617 xref: OMIM:613497 xref: UNIPROTKB/SWISSPROT:P38571 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:75233 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Wolman disease relationship: Orphanet:317343 Orphanet:75234 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cholesteryl ester storage disease property_value: alternative:term "CESD" xsd:string property_value: alternative:term "LAL" xsd:string property_value: alternative:term "Lipase A, lysosomal acid, cholesterol esterase (Wolman disease)" xsd:string property_value: alternative:term "Wolman disease" xsd:string property_value: symbol "LIPA" xsd:string [Term] id: Orphanet:123067 name: lipase, member I xref: ENSEMBL:ENSG00000188992 xref: GENATLAS:LIPI xref: HGNC:18821 xref: OMIM:609252 xref: UNIPROTKB/SWISSPROT:Q6XZB0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:413 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hyperlipoproteinemia type 4 property_value: alternative:term "cancer/testis antigen 17" xsd:string property_value: alternative:term "CT17" xsd:string property_value: alternative:term "LPDL" xsd:string property_value: alternative:term "membrane-associated phospholipase A1 beta" xsd:string property_value: alternative:term "mPA-PLA1beta" xsd:string property_value: alternative:term "PLA1C" xsd:string property_value: alternative:term "PRED5" xsd:string property_value: symbol "LIPI" xsd:string [Term] id: Orphanet:123070 name: lipopolysaccharide-induced TNF factor xref: ENSEMBL:ENSG00000189067 xref: GENATLAS:LITAF xref: HGNC:16841 xref: OMIM:603795 xref: UNIPROTKB/SWISSPROT:Q99732 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101083 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Charcot-Marie-Tooth disease type 1C property_value: alternative:term "FLJ38636" xsd:string property_value: alternative:term "PIG7" xsd:string property_value: alternative:term "SIMPLE" xsd:string property_value: alternative:term "TP53I7" xsd:string property_value: symbol "LITAF" xsd:string [Term] id: Orphanet:123076 name: lectin, mannose-binding, 1 xref: ENSEMBL:ENSG00000074695 xref: GENATLAS:LMAN1 xref: HGNC:6631 xref: OMIM:601567 xref: REACTOME:P49257 xref: UNIPROTKB/SWISSPROT:P49257 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:35909 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined deficiency of factor V and factor VIII property_value: alternative:term "coagulation factor V-factor VIII combined deficiency" xsd:string property_value: alternative:term "endoplasmic reticulum-golgi intermediate compartment protein 53" xsd:string property_value: alternative:term "ERGIC-53" xsd:string property_value: alternative:term "ERGIC53" xsd:string property_value: alternative:term "F5F8D" xsd:string property_value: alternative:term "FMFD1" xsd:string property_value: alternative:term "gp58" xsd:string property_value: alternative:term "MCFD1" xsd:string property_value: alternative:term "MR60" xsd:string property_value: symbol "LMAN1" xsd:string [Term] id: Orphanet:123085 name: limb development membrane protein 1 xref: ENSEMBL:ENSG00000105983 xref: GENATLAS:LMBR1 xref: HGNC:13243 xref: OMIM:605522 xref: UNIPROTKB/SWISSPROT:Q8WVP7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2950 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Triphalangeal thumb - polysyndactyly syndrome relationship: Orphanet:317343 Orphanet:295069 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Radial hemimelia, unilateral relationship: Orphanet:317343 Orphanet:295071 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Radial hemimelia, bilateral relationship: Orphanet:317343 Orphanet:295116 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adactyly of foot, unilateral relationship: Orphanet:317343 Orphanet:295118 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adactyly of foot, bilateral relationship: Orphanet:317343 Orphanet:295148 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Polydactyly of a triphalangeal thumb, unilateral relationship: Orphanet:317343 Orphanet:295150 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Polydactyly of a triphalangeal thumb, bilateral relationship: Orphanet:317343 Orphanet:3332 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypoplastic tibiae - postaxial polydactyly relationship: Orphanet:317343 Orphanet:93405 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Syndactyly type 4 property_value: alternative:term "ACHP" xsd:string property_value: alternative:term "C7orf2" xsd:string property_value: alternative:term "chromosome 7 open reading frame 2" xsd:string property_value: alternative:term "FLJ11665" xsd:string property_value: alternative:term "Limb region 1 homolog (mouse)" xsd:string property_value: alternative:term "ZRS" xsd:string property_value: symbol "LMBR1" xsd:string [Term] id: Orphanet:123090 name: lamin A/C xref: ENSEMBL:ENSG00000160789 xref: GENATLAS:LMNA xref: HGNC:6636 xref: OMIM:150330 xref: REACTOME:P02545 xref: UNIPROTKB/SWISSPROT:P02545 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:137871 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Laminopathy type Decaudain-Vigouroux relationship: Orphanet:317343 Orphanet:157973 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital muscular dystrophy due to LMNA mutation relationship: Orphanet:317343 Orphanet:1662 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lethal restrictive dermopathy relationship: Orphanet:317343 Orphanet:168796 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Heart-hand syndrome, Slovenian type relationship: Orphanet:317343 Orphanet:2229 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dilated cardiomyopathy - hypergonadotropic hypogonadism relationship: Orphanet:317343 Orphanet:2348 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial partial lipodystrophy, Dunnigan type relationship: Orphanet:317343 Orphanet:264 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant limb-girdle muscular dystrophy type 1B relationship: Orphanet:317343 Orphanet:280365 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal codominant severe lipodystrophic laminopathy relationship: Orphanet:317343 Orphanet:293888 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, left dominant form relationship: Orphanet:317343 Orphanet:293899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, biventricular form relationship: Orphanet:317343 Orphanet:293910 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, right dominant form relationship: Orphanet:317343 Orphanet:300751 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial dilated cardiomyopathy with conduction defect due to LMNA mutation relationship: Orphanet:317343 Orphanet:363618 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! LMNA-related cardiocutaneous progeria syndrome relationship: Orphanet:317343 Orphanet:740 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hutchinson-Gilford progeria syndrome relationship: Orphanet:317343 Orphanet:79084 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial partial lipodystrophy, Köbberling type relationship: Orphanet:317343 Orphanet:79474 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atypical Werner syndrome relationship: Orphanet:317343 Orphanet:90153 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mandibuloacral dysplasia with type A lipodystrophy relationship: Orphanet:317343 Orphanet:98853 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Emery-Dreifuss muscular dystrophy relationship: Orphanet:317343 Orphanet:98855 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive Emery-Dreifuss muscular dystrophy relationship: Orphanet:317343 Orphanet:98856 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Charcot-Marie-Tooth disease type 2B1 relationship: Orphanet:317343 Orphanet:99706 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progeria-associated arthropathy relationship: Orphanet:317345 Orphanet:54260 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Left ventricular noncompaction property_value: alternative:term "cardiomyopathy, dilated 1A (autosomal dominant)" xsd:string property_value: alternative:term "CMD1A" xsd:string property_value: alternative:term "HGPS" xsd:string property_value: alternative:term "lamin A/C-like 1" xsd:string property_value: alternative:term "LGMD1B" xsd:string property_value: alternative:term "limb girdle muscular dystrophy 1B (autosomal dominant)" xsd:string property_value: alternative:term "LMN1" xsd:string property_value: alternative:term "LMNL1" xsd:string property_value: alternative:term "PRO1" xsd:string property_value: alternative:term "progeria 1 (Hutchinson-Gilford type)" xsd:string property_value: symbol "LMNA" xsd:string [Term] id: Orphanet:123095 name: lamin B1 xref: ENSEMBL:ENSG00000113368 xref: GENATLAS:LMNB1 xref: HGNC:6637 xref: OMIM:150340 xref: REACTOME:P20700 xref: UNIPROTKB/SWISSPROT:P20700 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99027 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adult-onset autosomal dominant leukodystrophy property_value: symbol "LMNB1" xsd:string [Term] id: Orphanet:1231 name: Barber-Say syndrome xref: ICD10:Q87.0 xref: MESH:C537908 xref: OMIM:209885 xref: SNOMED CT:408537003 xref: UMLS:C1319466 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:79365 ! Hypertrichosis relationship: part_of Orphanet:98563 ! Microblepharon - ablephara relationship: part_of Orphanet:98568 ! Congenital entropion relationship: part_of Orphanet:98571 ! Secondary ectropion property_value: alternative:term "Hypertrichosis - atrophic skin - ectropion - macrostomia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia." xsd:string [Term] id: Orphanet:123102 name: LIM homeobox transcription factor 1, beta xref: ENSEMBL:ENSG00000136944 xref: GENATLAS:LMX1B xref: HGNC:6654 xref: OMIM:602575 xref: UNIPROTKB/SWISSPROT:O60663 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2614 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nail-patella syndrome property_value: alternative:term "NPS1" xsd:string property_value: symbol "LMX1B" xsd:string [Term] id: Orphanet:123105 name: loricrin xref: ENSEMBL:ENSG00000203782 xref: GENATLAS:LOR xref: HGNC:6663 xref: OMIM:152445 xref: UNIPROTKB/SWISSPROT:P23490 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:316 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive symmetric erythrokeratodermia relationship: Orphanet:317343 Orphanet:79395 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Keratoderma hereditarium mutilans with ichthyosis property_value: symbol "LOR" xsd:string [Term] id: Orphanet:123109 name: lipin 2 xref: ENSEMBL:ENSG00000101577 xref: GENATLAS:LPIN2 xref: HGNC:14450 xref: OMIM:605519 xref: REACTOME:Q92539 xref: UNIPROTKB/SWISSPROT:Q92539 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:77297 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Majeed syndrome property_value: alternative:term "KIAA0249" xsd:string property_value: symbol "LPIN2" xsd:string [Term] id: Orphanet:123112 name: lipoprotein lipase xref: ENSEMBL:ENSG00000175445 xref: GENATLAS:LPL xref: HGNC:6677 xref: OMIM:609708 xref: REACTOME:P06858 xref: UNIPROTKB/SWISSPROT:P06858 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:309015 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial lipoprotein lipase deficiency relationship: Orphanet:317343 Orphanet:70470 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperlipoproteinemia type 5 property_value: alternative:term "LIPD" xsd:string property_value: symbol "LPL" xsd:string [Term] id: Orphanet:123115 name: low density lipoprotein receptor-related protein 5 xref: ENSEMBL:ENSG00000162337 xref: GENATLAS:LRP5 xref: HGNC:6697 xref: OMIM:603506 xref: UNIPROTKB/SWISSPROT:O75197 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178377 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteosclerosis - developmental delay - craniosynostosis relationship: Orphanet:317343 Orphanet:2783 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant osteopetrosis type 1 relationship: Orphanet:317343 Orphanet:2788 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteoporosis - pseudoglioma relationship: Orphanet:317343 Orphanet:2790 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant osteosclerosis, Worth type relationship: Orphanet:317343 Orphanet:3416 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hyperostosis corticalis generalisata relationship: Orphanet:317343 Orphanet:891 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial exudative vitreoretinopathy relationship: Orphanet:317345 Orphanet:85193 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic juvenile osteoporosis relationship: Orphanet:317345 Orphanet:90050 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Retinopathy of prematurity property_value: alternative:term "BMND1" xsd:string property_value: alternative:term "EVR1" xsd:string property_value: alternative:term "exudative vitreoretinopathy 1" xsd:string property_value: alternative:term "HBM" xsd:string property_value: alternative:term "LR3" xsd:string property_value: alternative:term "LRP7" xsd:string property_value: alternative:term "OPPG" xsd:string property_value: alternative:term "OPS" xsd:string property_value: alternative:term "OPTA1" xsd:string property_value: alternative:term "osteoporosis pseudoglioma syndrome" xsd:string property_value: alternative:term "VBCH2" xsd:string property_value: symbol "LRP5" xsd:string [Term] id: Orphanet:123124 name: leucine-rich pentatricopeptide repeat containing xref: ENSEMBL:ENSG00000138095 xref: GENATLAS:LRPPRC xref: HGNC:15714 xref: OMIM:607544 xref: UNIPROTKB/SWISSPROT:P42704 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:70472 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital lactic acidosis, Saguenay-Lac-St. Jean type property_value: alternative:term "GP130" xsd:string property_value: alternative:term "Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)" xsd:string property_value: alternative:term "Leucine-rich PPR-motif containing" xsd:string property_value: alternative:term "LRP130" xsd:string property_value: alternative:term "LSFC" xsd:string property_value: symbol "LRPPRC" xsd:string [Term] id: Orphanet:123129 name: leucine rich repeat containing 8 family, member A xref: ENSEMBL:ENSG00000136802 xref: GENATLAS:LRRC8A xref: HGNC:19027 xref: OMIM:608360 xref: UNIPROTKB/SWISSPROT:Q8IWT6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:33110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal agammaglobulinemia property_value: alternative:term "FLJ10337" xsd:string property_value: alternative:term "KIAA1437" xsd:string property_value: alternative:term "leucine rich repeat containing 8" xsd:string property_value: alternative:term "LRRC8" xsd:string property_value: symbol "LRRC8A" xsd:string [Term] id: Orphanet:123131 name: mannosidase, beta A, lysosomal xref: ENSEMBL:ENSG00000109323 xref: GENATLAS:MANBA xref: HGNC:6831 xref: OMIM:609489 xref: UNIPROTKB/SWISSPROT:O00462 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:118 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Beta-mannosidosis property_value: symbol "MANBA" xsd:string [Term] id: Orphanet:123133 name: monoamine oxidase A xref: ENSEMBL:ENSG00000189221 xref: GENATLAS:MAOA xref: HGNC:6833 xref: OMIM:309850 xref: REACTOME:P21397 xref: UNIPROTKB/SWISSPROT:P21397 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3057 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Monoamine oxidase A deficiency property_value: symbol "MAOA" xsd:string [Term] id: Orphanet:123135 name: mitogen-activated protein kinase kinase 1 xref: ENSEMBL:ENSG00000169032 xref: GENATLAS:MAP2K1 xref: HGNC:6840 xref: IUPHAR:2062 xref: OMIM:176872 xref: REACTOME:Q02750 xref: UNIPROTKB/SWISSPROT:Q02750 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1340 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cardiofaciocutaneous syndrome property_value: alternative:term "MAPKK1" xsd:string property_value: alternative:term "MEK1" xsd:string property_value: alternative:term "PRKMK1" xsd:string property_value: symbol "MAP2K1" xsd:string [Term] id: Orphanet:123140 name: mitogen-activated protein kinase kinase 2 xref: ENSEMBL:ENSG00000126934 xref: GENATLAS:MAP2K2 xref: HGNC:6842 xref: IUPHAR:2063 xref: OMIM:601263 xref: REACTOME:P36507 xref: UNIPROTKB/SWISSPROT:P36507 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1340 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cardiofaciocutaneous syndrome property_value: alternative:term "MEK2" xsd:string property_value: alternative:term "PRKMK2" xsd:string property_value: symbol "MAP2K2" xsd:string [Term] id: Orphanet:123144 name: microtubule-associated protein tau xref: ENSEMBL:ENSG00000186868 xref: GENATLAS:MAPT xref: HGNC:6893 xref: OMIM:157140 xref: REACTOME:P10636 xref: UNIPROTKB/SWISSPROT:P10636 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:100069 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Semantic dementia relationship: Orphanet:317345 Orphanet:100070 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Progressive non-fluent aphasia relationship: Orphanet:317345 Orphanet:240071 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Classical progressive supranuclear palsy relationship: Orphanet:317345 Orphanet:240085 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive supranuclear palsy - parkinsonism relationship: Orphanet:317345 Orphanet:240094 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive supranuclear palsy - pure akinesia with gait freezing relationship: Orphanet:317345 Orphanet:240103 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive supranuclear palsy - corticobasal syndrome relationship: Orphanet:317345 Orphanet:240112 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive supranuclear palsy - progressive non fluent aphasia relationship: Orphanet:317345 Orphanet:275864 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Behavioral variant of frontotemporal dementia property_value: alternative:term "DDPAC" xsd:string property_value: alternative:term "FLJ31424" xsd:string property_value: alternative:term "FTDP-17" xsd:string property_value: alternative:term "G protein beta1/gamma2 subunit-interacting factor 1" xsd:string property_value: alternative:term "MAPTL" xsd:string property_value: alternative:term "MGC138549" xsd:string property_value: alternative:term "microtubule-associated protein tau, isoform 4" xsd:string property_value: alternative:term "MSTD" xsd:string property_value: alternative:term "MTBT1" xsd:string property_value: alternative:term "MTBT2" xsd:string property_value: alternative:term "PPND" xsd:string property_value: alternative:term "tau" xsd:string property_value: symbol "MAPT" xsd:string [Term] id: Orphanet:123154 name: microtubule associated serine/threonine kinase-like xref: ENSEMBL:ENSG00000120539 xref: GENATLAS:MASTL xref: HGNC:19042 xref: IUPHAR:1514 xref: OMIM:608221 xref: REACTOME:Q96GX5 xref: UNIPROTKB/SWISSPROT:Q96GX5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:168629 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal thrombocytopenia with normal platelets property_value: alternative:term "FLJ14813" xsd:string property_value: alternative:term "THC2" xsd:string property_value: symbol "MASTL" xsd:string [Term] id: Orphanet:123158 name: matrilin 3 xref: ENSEMBL:ENSG00000132031 xref: GENATLAS:MATN3 xref: HGNC:6909 xref: OMIM:602109 xref: REACTOME:O15232 xref: UNIPROTKB/SWISSPROT:O15232 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:156728 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spondyloepimetaphyseal dysplasia, matrilin-3 type relationship: Orphanet:317343 Orphanet:93311 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple epiphyseal dysplasia type 5 property_value: alternative:term "EDM5" xsd:string property_value: alternative:term "HOA" xsd:string property_value: symbol "MATN3" xsd:string [Term] id: Orphanet:123161 name: melanocortin 2 receptor (adrenocorticotropic hormone) xref: ENSEMBL:ENSG00000185231 xref: GENATLAS:MC2R xref: HGNC:6930 xref: IUPHAR:283 xref: OMIM:607397 xref: REACTOME:Q01718 xref: UNIPROTKB/SWISSPROT:Q01718 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:361 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial glucocorticoid deficiency property_value: alternative:term "ACTHR" xsd:string property_value: symbol "MC2R" xsd:string [Term] id: Orphanet:123164 name: methylcrotonoyl-CoA carboxylase 1 (alpha) xref: ENSEMBL:ENSG00000078070 xref: GENATLAS:MCCC1 xref: HGNC:6936 xref: OMIM:609010 xref: REACTOME:Q96RQ3 xref: UNIPROTKB/SWISSPROT:Q96RQ3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:6 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated 3-methylcrotonyl-CoA carboxylase deficiency property_value: alternative:term "MCCA" xsd:string property_value: alternative:term "Methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)" xsd:string property_value: symbol "MCCC1" xsd:string [Term] id: Orphanet:123167 name: methylcrotonoyl-CoA carboxylase 2 (beta) xref: ENSEMBL:ENSG00000131844 xref: GENATLAS:MCCC2 xref: HGNC:6937 xref: OMIM:609014 xref: REACTOME:Q9HCC0 xref: UNIPROTKB/SWISSPROT:Q9HCC0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:6 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated 3-methylcrotonyl-CoA carboxylase deficiency property_value: alternative:term "MCCB" xsd:string property_value: alternative:term "Methylcrotonoyl-Coenzyme A carboxylase 2 (beta)" xsd:string property_value: symbol "MCCC2" xsd:string [Term] id: Orphanet:123170 name: multiple coagulation factor deficiency 2 xref: ENSEMBL:ENSG00000180398 xref: GENATLAS:MCFD2 xref: HGNC:18451 xref: OMIM:607788 xref: REACTOME:Q8NI22 xref: UNIPROTKB/SWISSPROT:Q8NI22 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:35909 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined deficiency of factor V and factor VIII property_value: alternative:term "F5F8D" xsd:string property_value: alternative:term "LMAN1IP" xsd:string property_value: alternative:term "SDNSF" xsd:string property_value: symbol "MCFD2" xsd:string [Term] id: Orphanet:123175 name: mucolipin 1 xref: ENSEMBL:ENSG00000090674 xref: GENATLAS:MCOLN1 xref: HGNC:13356 xref: IUPHAR:501 xref: OMIM:605248 xref: REACTOME:Q9GZU1 xref: UNIPROTKB/SWISSPROT:Q9GZU1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:578 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mucolipidosis type 4 property_value: alternative:term "ML4" xsd:string property_value: alternative:term "MLIV" xsd:string property_value: alternative:term "MST080" xsd:string property_value: alternative:term "MSTP080" xsd:string property_value: alternative:term "TRPM-L1" xsd:string property_value: alternative:term "TRPML1" xsd:string property_value: symbol "MCOLN1" xsd:string [Term] id: Orphanet:123183 name: microcephalin 1 xref: ENSEMBL:ENSG00000147316 xref: GENATLAS:MCPH1 xref: HGNC:6954 xref: OMIM:607117 xref: REACTOME:Q8NEM0 xref: UNIPROTKB/SWISSPROT:Q8NEM0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2512 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive primary microcephaly relationship: Orphanet:317343 Orphanet:52183 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Premature chromosome condensation with microcephaly and intellectual deficit property_value: alternative:term "BRCT-repeat inhibitor of TERT expression 1" xsd:string property_value: alternative:term "BRIT1" xsd:string property_value: alternative:term "FLJ12847" xsd:string property_value: alternative:term "Microcephaly, primary autosomal recessive 1" xsd:string property_value: symbol "MCPH1" xsd:string [Term] id: Orphanet:123186 name: methyl CpG binding protein 2 (Rett syndrome) xref: ENSEMBL:ENSG00000169057 xref: GENATLAS:MECP2 xref: HGNC:6990 xref: OMIM:300005 xref: UNIPROTKB/SWISSPROT:P51608 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:209370 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe neonatal-onset encephalopathy with microcephaly relationship: Orphanet:317343 Orphanet:3077 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intellectual deficit, X-linked - psychosis - macroorchidism relationship: Orphanet:317343 Orphanet:3095 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atypical Rett syndrome relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit relationship: Orphanet:317343 Orphanet:778 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rett syndrome relationship: Orphanet:317349 Orphanet:1762 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Trisomy Xq28 property_value: alternative:term "mental retardation, X-linked 16" xsd:string property_value: alternative:term "mental retardation, X-linked 79" xsd:string property_value: alternative:term "MRX16" xsd:string property_value: alternative:term "MRX79" xsd:string property_value: alternative:term "RTT" xsd:string property_value: symbol "MECP2" xsd:string [Term] id: Orphanet:123191 name: Mediterranean fever xref: ENSEMBL:ENSG00000103313 xref: GENATLAS:MEFV xref: HGNC:6998 xref: OMIM:608107 xref: REACTOME:O15553 xref: UNIPROTKB/SWISSPROT:O15553 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:342 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial Mediterranean fever relationship: Orphanet:317345 Orphanet:117 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Behçet disease relationship: Orphanet:317345 Orphanet:329967 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Intermittent hydrarthrosis property_value: alternative:term "FMF" xsd:string property_value: alternative:term "MEF" xsd:string property_value: alternative:term "pyrin" xsd:string property_value: alternative:term "TRIM20" xsd:string property_value: symbol "MEFV" xsd:string [Term] id: Orphanet:123196 name: multiple endocrine neoplasia I xref: ENSEMBL:ENSG00000133895 xref: GENATLAS:MEN1 xref: HGNC:7010 xref: OMIM:613733 xref: REACTOME:O00255 xref: UNIPROTKB/SWISSPROT:O00255 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:652 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Multiple endocrine neoplasia type 1 relationship: Orphanet:317343 Orphanet:913 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zollinger-Ellison syndrome relationship: Orphanet:317343 Orphanet:99877 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial parathyroid adenoma relationship: Orphanet:317343 Orphanet:99879 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated hyperparathyroidism property_value: alternative:term "menin" xsd:string property_value: symbol "MEN1" xsd:string [Term] id: Orphanet:123198 name: c-mer proto-oncogene tyrosine kinase xref: ENSEMBL:ENSG00000153208 xref: GENATLAS:MERTK xref: HGNC:7027 xref: IUPHAR:1837 xref: OMIM:604705 xref: REACTOME:Q12866 xref: UNIPROTKB/SWISSPROT:Q12866 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "mer" xsd:string property_value: alternative:term "RP38" xsd:string property_value: symbol "MERTK" xsd:string [Term] id: Orphanet:123201 name: met proto-oncogene xref: ENSEMBL:ENSG00000105976 xref: GENATLAS:MET xref: HGNC:7029 xref: IUPHAR:1815 xref: OMIM:164860 xref: REACTOME:P08581 xref: UNIPROTKB/SWISSPROT:P08581 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:47044 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial papillary renal cell carcinoma relationship: Orphanet:317344 Orphanet:33402 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hepatocellular carcinoma, childhood-onset property_value: alternative:term "hepatocyte growth factor receptor" xsd:string property_value: alternative:term "HGFR" xsd:string property_value: alternative:term "Met proto-oncogene (hepatocyte growth factor receptor)" xsd:string property_value: alternative:term "RCCP2" xsd:string property_value: symbol "MET" xsd:string [Term] id: Orphanet:123207 name: mitofusin 2 xref: ENSEMBL:ENSG00000116688 xref: GENATLAS:MFN2 xref: HGNC:16877 xref: OMIM:608507 xref: REACTOME:O95140 xref: UNIPROTKB/SWISSPROT:O95140 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1215 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant optic atrophy plus syndrome relationship: Orphanet:317343 Orphanet:64751 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary motor and sensory neuropathy type 5 relationship: Orphanet:317343 Orphanet:90118 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe early-onset axonal neuropathy due to MFN2 deficiency relationship: Orphanet:317343 Orphanet:90120 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary motor and sensory neuropathy type 6 relationship: Orphanet:317343 Orphanet:99947 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Charcot-Marie-Tooth disease type 2A2 property_value: alternative:term "CMT2A2" xsd:string property_value: alternative:term "CPRP1" xsd:string property_value: alternative:term "KIAA0214" xsd:string property_value: alternative:term "MARF" xsd:string property_value: symbol "MFN2" xsd:string [Term] id: Orphanet:123212 name: membrane frizzled-related protein xref: ENSEMBL:ENSG00000235718 xref: GENATLAS:MFRP xref: HGNC:18121 xref: OMIM:606227 xref: UNIPROTKB/SWISSPROT:Q9BY79 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:251279 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen relationship: Orphanet:317343 Orphanet:35612 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nanophthalmia property_value: alternative:term "C1QTNF5" xsd:string property_value: alternative:term "complement C1q tumor necrosis factor-related protein 5 precursor variant 1" xsd:string property_value: alternative:term "FLJ30570" xsd:string property_value: alternative:term "membrane-type frizzled-related protein" xsd:string property_value: alternative:term "NNO2" xsd:string property_value: alternative:term "rd6" xsd:string property_value: symbol "MFRP" xsd:string [Term] id: Orphanet:123216 name: mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase xref: ENSEMBL:ENSG00000168282 xref: GENATLAS:MGAT2 xref: HGNC:7045 xref: OMIM:602616 xref: REACTOME:Q10469 xref: UNIPROTKB/SWISSPROT:Q10469 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79329 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MGAT2-CDG property_value: alternative:term "GNT-II" xsd:string property_value: symbol "MGAT2" xsd:string [Term] id: Orphanet:123219 name: matrix Gla protein xref: ENSEMBL:ENSG00000111341 xref: GENATLAS:MGP xref: HGNC:7060 xref: OMIM:154870 xref: UNIPROTKB/SWISSPROT:P08493 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:85202 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Keutel syndrome property_value: symbol "MGP" xsd:string [Term] id: Orphanet:123221 name: midline 1 (Opitz/BBB syndrome) xref: ENSEMBL:ENSG00000101871 xref: GENATLAS:MID1 xref: HGNC:7095 xref: OMIM:300552 xref: UNIPROTKB/SWISSPROT:O15344 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:306597 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked Opitz G/BBB syndrome property_value: alternative:term "FXY" xsd:string property_value: alternative:term "OS" xsd:string property_value: alternative:term "RNF59" xsd:string property_value: alternative:term "TRIM18" xsd:string property_value: symbol "MID1" xsd:string [Term] id: Orphanet:123227 name: macrophage migration inhibitory factor (glycosylation-inhibiting factor) xref: ENSEMBL:ENSG00000240972 xref: GENATLAS:MIF xref: HGNC:7097 xref: OMIM:153620 xref: UNIPROTKB/SWISSPROT:P14174 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:85414 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Systemic-onset juvenile idiopathic arthritis property_value: alternative:term "GIF" xsd:string property_value: alternative:term "GLIF" xsd:string property_value: symbol "MIF" xsd:string [Term] id: Orphanet:123238 name: major intrinsic protein of lens fiber xref: ENSEMBL:ENSG00000135517 xref: GENATLAS:MIP xref: HGNC:7103 xref: OMIM:154050 xref: REACTOME:P30301 xref: UNIPROTKB/SWISSPROT:P30301 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98985 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cataract with Y-shaped suture opacities relationship: Orphanet:317343 Orphanet:98989 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cerulean cataract relationship: Orphanet:317343 Orphanet:98991 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nuclear cataract relationship: Orphanet:317343 Orphanet:98994 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Total congenital cataract relationship: Orphanet:317343 Orphanet:98995 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zonular cataract property_value: alternative:term "AQP0" xsd:string property_value: alternative:term "aquaporin 0" xsd:string property_value: alternative:term "LIM1" xsd:string property_value: alternative:term "MP26" xsd:string property_value: symbol "MIP" xsd:string [Term] id: Orphanet:123243 name: microphthalmia-associated transcription factor xref: ENSEMBL:ENSG00000187098 xref: GENATLAS:MITF xref: HGNC:7105 xref: OMIM:156845 xref: UNIPROTKB/SWISSPROT:O75030 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352740 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ocular albinism with congenital sensorineural deafness relationship: Orphanet:317343 Orphanet:42665 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tietz syndrome relationship: Orphanet:317343 Orphanet:895 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Waardenburg syndrome type 2 relationship: Orphanet:317345 Orphanet:293822 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MITF-related melanoma and renal cell carcinoma predisposition syndrome relationship: Orphanet:317345 Orphanet:319276 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Clear cell renal carcinoma relationship: Orphanet:317345 Orphanet:319298 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Papillary renal cell carcinoma property_value: alternative:term "bHLHe32" xsd:string property_value: alternative:term "homolog of mouse microphthalmia" xsd:string property_value: alternative:term "MI" xsd:string property_value: alternative:term "Waardenburg syndrome, type 2A" xsd:string property_value: alternative:term "WS2" xsd:string property_value: alternative:term "WS2A" xsd:string property_value: symbol "MITF" xsd:string [Term] id: Orphanet:123245 name: McKusick-Kaufman syndrome (Gen) xref: ENSEMBL:ENSG00000125863 xref: GENATLAS:MKKS xref: HGNC:7108 xref: OMIM:604896 xref: UNIPROTKB/SWISSPROT:Q9NPJ1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bardet-Biedl syndrome relationship: Orphanet:317343 Orphanet:2377 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Laurence-Moon syndrome relationship: Orphanet:317343 Orphanet:2473 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! McKusick-Kaufman syndrome property_value: alternative:term "BBS6" xsd:string property_value: symbol "MKKS" xsd:string [Term] id: Orphanet:123253 name: Meckel syndrome, type 1 xref: ENSEMBL:ENSG00000011143 xref: GENATLAS:MKS1 xref: HGNC:7121 xref: OMIM:609883 xref: UNIPROTKB/SWISSPROT:Q9NXB0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bardet-Biedl syndrome relationship: Orphanet:317343 Orphanet:564 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Meckel syndrome property_value: alternative:term "BBS13" xsd:string property_value: alternative:term "FLJ20345" xsd:string property_value: alternative:term "MKS" xsd:string property_value: alternative:term "POC12" xsd:string property_value: alternative:term "POC12 centriolar protein homolog (Chlamydomonas)" xsd:string property_value: symbol "MKS1" xsd:string [Term] id: Orphanet:123257 name: megalencephalic leukoencephalopathy with subcortical cysts 1 xref: ENSEMBL:ENSG00000100427 xref: GENATLAS:MLC1 xref: HGNC:17082 xref: OMIM:605908 xref: UNIPROTKB/SWISSPROT:Q15049 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Megalencephalic leukoencephalopathy with subcortical cysts property_value: alternative:term "KIAA0027" xsd:string property_value: alternative:term "LVM" xsd:string property_value: alternative:term "MLC" xsd:string property_value: alternative:term "VL" xsd:string property_value: symbol "MLC1" xsd:string [Term] id: Orphanet:123263 name: mutL homolog 1 xref: ENSEMBL:ENSG00000076242 xref: GENATLAS:MLH1 xref: HGNC:7127 xref: OMIM:120436 xref: REACTOME:P40692 xref: UNIPROTKB/SWISSPROT:P40692 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:144 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary nonpolyposis colon cancer relationship: Orphanet:317343 Orphanet:252202 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Constitutional mismatch repair deficiency syndrome relationship: Orphanet:317343 Orphanet:587 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Muir-Torre syndrome relationship: Orphanet:317343 Orphanet:99817 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Non-polyposis Turcot syndrome property_value: alternative:term "COCA2" xsd:string property_value: alternative:term "FCC2" xsd:string property_value: alternative:term "HNPCC" xsd:string property_value: alternative:term "HNPCC2" xsd:string property_value: alternative:term "mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)" xsd:string property_value: alternative:term "MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)" xsd:string property_value: symbol "MLH1" xsd:string [Term] id: Orphanet:123269 name: mutL homolog 3 xref: ENSEMBL:ENSG00000119684 xref: GENATLAS:MLH3 xref: HGNC:7128 xref: OMIM:604395 xref: REACTOME:Q9UHC1 xref: UNIPROTKB/SWISSPROT:Q9UHC1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:144 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary nonpolyposis colon cancer property_value: alternative:term "mutL (E. coli) homolog 3" xsd:string property_value: alternative:term "MutL homolog 3 (E. coli)" xsd:string property_value: symbol "MLH3" xsd:string [Term] id: Orphanet:123271 name: lysine (K)-specific methyltransferase 2A xref: ENSEMBL:ENSG00000118058 xref: GENATLAS:MLL xref: HGNC:7132 xref: OMIM:159555 xref: UNIPROTKB/SWISSPROT:Q03164 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319182 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Wiedemann-Steiner syndrome relationship: Orphanet:317348 Orphanet:98835 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute undifferentiated leukemia relationship: Orphanet:317348 Orphanet:98836 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bilineal acute leukemia relationship: Orphanet:317348 Orphanet:98837 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute biphenotypic leukemia relationship: Orphanet:317348 Orphanet:99860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor B-cell acute lymphoblastic leukemia relationship: Orphanet:317349 Orphanet:98831 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Acute myeloid leukemia with 11q23 abnormalities property_value: alternative:term "ALL-1" xsd:string property_value: alternative:term "CXXC7" xsd:string property_value: alternative:term "HRX" xsd:string property_value: alternative:term "HTRX1" xsd:string property_value: alternative:term "MLL" xsd:string property_value: alternative:term "MLL1A" xsd:string property_value: alternative:term "myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)" xsd:string property_value: alternative:term "Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)" xsd:string property_value: alternative:term "TRX1" xsd:string property_value: symbol "KMT2A" xsd:string [Term] id: Orphanet:123279 name: melanophilin xref: ENSEMBL:ENSG00000115648 xref: GENATLAS:MLPH xref: HGNC:29643 xref: OMIM:606526 xref: UNIPROTKB/SWISSPROT:Q9BV36 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Griscelli disease type 3 property_value: alternative:term "exophilin-3" xsd:string property_value: alternative:term "l(1)-3Rk" xsd:string property_value: alternative:term "l1Rk3" xsd:string property_value: alternative:term "ln" xsd:string property_value: alternative:term "Slac-2a" xsd:string property_value: symbol "MLPH" xsd:string [Term] id: Orphanet:123286 name: MLX interacting protein-like xref: ENSEMBL:ENSG00000009950 xref: GENATLAS:MLXIPL xref: HGNC:12744 xref: OMIM:605678 xref: REACTOME:Q9NP71 xref: UNIPROTKB/SWISSPROT:Q9NP71 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Williams syndrome property_value: alternative:term "bHLHd14" xsd:string property_value: alternative:term "carbohydrate response element binding protein" xsd:string property_value: alternative:term "CHREBP" xsd:string property_value: alternative:term "MIO" xsd:string property_value: alternative:term "MONDOB" xsd:string property_value: alternative:term "WBSCR14" xsd:string property_value: alternative:term "Williams Beuren syndrome chromosome region 14" xsd:string property_value: alternative:term "WS-bHLH" xsd:string property_value: symbol "MLXIPL" xsd:string [Term] id: Orphanet:123290 name: malonyl-CoA decarboxylase xref: ENSEMBL:ENSG00000103150 xref: GENATLAS:MLYCD xref: HGNC:7150 xref: OMIM:606761 xref: REACTOME:O95822 xref: UNIPROTKB/SWISSPROT:O95822 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:943 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Malonic aciduria property_value: alternative:term "hMCD" xsd:string property_value: alternative:term "MCD" xsd:string property_value: symbol "MLYCD" xsd:string [Term] id: Orphanet:123294 name: methylmalonic aciduria (cobalamin deficiency) cblA type xref: ENSEMBL:ENSG00000151611 xref: GENATLAS:MMAA xref: HGNC:18871 xref: OMIM:607481 xref: REACTOME:Q8IVH4 xref: UNIPROTKB/SWISSPROT:Q8IVH4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79310 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Vitamin B12-responsive methylmalonic acidemia type cblA property_value: alternative:term "cblA" xsd:string property_value: alternative:term "methylmalonic aciduria (cobalamin deficiency) type A" xsd:string property_value: symbol "MMAA" xsd:string [Term] id: Orphanet:123296 name: methylmalonic aciduria (cobalamin deficiency) cblB type xref: ENSEMBL:ENSG00000139428 xref: GENATLAS:MMAB xref: HGNC:19331 xref: OMIM:607568 xref: REACTOME:Q96EY8 xref: UNIPROTKB/SWISSPROT:Q96EY8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79311 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Vitamin B12-responsive methylmalonic acidemia type cblB property_value: alternative:term "ATP:cob(I)alamin adenosyltransferase" xsd:string property_value: alternative:term "cblB" xsd:string property_value: alternative:term "methylmalonic aciduria (cobalamin deficiency) type B" xsd:string property_value: symbol "MMAB" xsd:string [Term] id: Orphanet:123301 name: leucine-rich repeat kinase 2 xref: ENSEMBL:ENSG00000188906 xref: GENATLAS:LRRK2 xref: HGNC:18618 xref: IUPHAR:2059 xref: OMIM:609007 xref: UNIPROTKB/SWISSPROT:Q5S007 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2828 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Young adult-onset Parkinsonism property_value: alternative:term "DKFZp434H2111" xsd:string property_value: alternative:term "FLJ45829" xsd:string property_value: alternative:term "PARK8" xsd:string property_value: alternative:term "Parkinson disease (autosomal dominant) 8" xsd:string property_value: alternative:term "RIPK7" xsd:string property_value: alternative:term "ROCO2" xsd:string property_value: symbol "LRRK2" xsd:string [Term] id: Orphanet:123313 name: leukotriene C4 synthase xref: ENSEMBL:ENSG00000213316 xref: GENATLAS:LTC4S xref: HGNC:6719 xref: OMIM:246530 xref: REACTOME:Q16873 xref: UNIPROTKB/SWISSPROT:Q16873 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79507 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypotonia - failure to thrive - microcephaly property_value: alternative:term "MGC33147" xsd:string property_value: symbol "LTC4S" xsd:string [Term] id: Orphanet:123318 name: lysosomal trafficking regulator xref: ENSEMBL:ENSG00000143669 xref: GENATLAS:LYST xref: HGNC:1968 xref: OMIM:606897 xref: UNIPROTKB/SWISSPROT:Q99698 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:167 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chédiak-Higashi syndrome relationship: Orphanet:317343 Orphanet:352723 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Attenuated Chédiak-Higashi syndrome property_value: alternative:term "Chediak-Higashi syndrome 1" xsd:string property_value: alternative:term "CHS" xsd:string property_value: alternative:term "CHS1" xsd:string property_value: symbol "LYST" xsd:string [Term] id: Orphanet:123322 name: lysozyme xref: ENSEMBL:ENSG00000090382 xref: GENATLAS:LYZ xref: HGNC:6740 xref: OMIM:153450 xref: REACTOME:P61626 xref: UNIPROTKB/SWISSPROT:P61626 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93561 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial renal amyloidosis due to lysozyme variant property_value: alternative:term "Lysozyme (renal amyloidosis)" xsd:string property_value: alternative:term "renal amyloidosis" xsd:string property_value: symbol "LYZ" xsd:string [Term] id: Orphanet:123324 name: MAGE-like 2 xref: ENSEMBL:ENSG00000254585 xref: GENATLAS:MAGEL2 xref: HGNC:6814 xref: OMIM:605283 xref: UNIPROTKB/SWISSPROT:Q9UJ55 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:177910 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Prader-Willi syndrome due to imprinting mutation relationship: Orphanet:317349 Orphanet:177901 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 relationship: Orphanet:317349 Orphanet:177904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 relationship: Orphanet:317349 Orphanet:98754 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 property_value: alternative:term "NDNL1" xsd:string property_value: alternative:term "nM15" xsd:string property_value: symbol "MAGEL2" xsd:string [Term] id: Orphanet:123328 name: mannosidase, alpha, class 2B, member 1 xref: ENSEMBL:ENSG00000104774 xref: GENATLAS:MAN2B1 xref: HGNC:6826 xref: OMIM:609458 xref: UNIPROTKB/SWISSPROT:O00754 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:309282 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alpha-mannosidosis, infantile form relationship: Orphanet:317343 Orphanet:309288 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alpha-mannosidosis, adult form property_value: alternative:term "LAMAN" xsd:string property_value: alternative:term "MANB" xsd:string property_value: symbol "MAN2B1" xsd:string [Term] id: Orphanet:123334 name: acyl-CoA dehydrogenase family, member 9 xref: ENSEMBL:ENSG00000177646 xref: GENATLAS:ACAD9 xref: HGNC:21497 xref: OMIM:611103 xref: UNIPROTKB/SWISSPROT:Q9H845 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency relationship: Orphanet:317343 Orphanet:99901 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acyl-CoA dehydrogenase 9 deficiency property_value: alternative:term "Acyl-Coenzyme A dehydrogenase family, member 9" xsd:string property_value: alternative:term "MGC14452" xsd:string property_value: alternative:term "NPD002" xsd:string property_value: symbol "ACAD9" xsd:string [Term] id: Orphanet:123336 name: acyl-CoA dehydrogenase family, member 8 xref: ENSEMBL:ENSG00000151498 xref: GENATLAS:ACAD8 xref: HGNC:87 xref: OMIM:604773 xref: REACTOME:Q9UKU7 xref: UNIPROTKB/SWISSPROT:Q9UKU7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79159 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isobutyryl-CoA dehydrogenase deficiency property_value: alternative:term "acyl-Coenzyme A dehydrogenase family, member 8" xsd:string property_value: symbol "ACAD8" xsd:string [Term] id: Orphanet:123340 name: H19, imprinted maternally expressed transcript (non-protein coding) xref: ENSEMBL:ENSG00000130600 xref: GENATLAS:H19 xref: HGNC:4713 xref: OMIM:103280 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2128 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemihypertrophy relationship: Orphanet:317343 Orphanet:231117 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 relationship: Orphanet:317343 Orphanet:231140 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Silver-Russell syndrome due to imprinting defect of 11p15 relationship: Orphanet:317343 Orphanet:231144 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Silver-Russell syndrome due to 11p15 microduplication relationship: Orphanet:317349 Orphanet:231127 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Beckwith-Wiedemann syndrome due to 11p15 microdeletion relationship: Orphanet:317349 Orphanet:654 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nephroblastoma property_value: alternative:term "ASM" xsd:string property_value: alternative:term "ASM1" xsd:string property_value: alternative:term "D11S813E" xsd:string property_value: alternative:term "H19, imprinted maternally expressed untranslated mRNA" xsd:string property_value: alternative:term "LINC00008" xsd:string property_value: alternative:term "long intergenic non-protein coding RNA 8" xsd:string property_value: alternative:term "NCRNA00008" xsd:string property_value: alternative:term "non-protein coding RNA 8" xsd:string property_value: symbol "H19" xsd:string [Term] id: Orphanet:123345 name: wingless-type MMTV integration site family, member 10A xref: ENSEMBL:ENSG00000135925 xref: GENATLAS:WNT10A xref: HGNC:13829 xref: OMIM:606268 xref: REACTOME:Q9GZT5 xref: UNIPROTKB/SWISSPROT:Q9GZT5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:248 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive hypohidrotic ectodermal dysplasia relationship: Orphanet:317343 Orphanet:2721 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Odonto-onycho-dermal dysplasia relationship: Orphanet:317343 Orphanet:50944 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Schöpf-Schulz-Passarge syndrome relationship: Orphanet:317343 Orphanet:99798 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oligodontia property_value: symbol "WNT10A" xsd:string [Term] id: Orphanet:123347 name: homeobox A11 xref: ENSEMBL:ENSG00000005073 xref: GENATLAS:HOXA11  xref: HGNC:5101 xref: OMIM:142958 xref: UNIPROTKB/SWISSPROT:P31270 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:71289 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Radio-ulnar synostosis - amegakaryocytic thrombocytopenia property_value: alternative:term "homeo box A11" xsd:string property_value: alternative:term "HOX1" xsd:string property_value: alternative:term "HOX1I" xsd:string property_value: symbol "HOXA11" xsd:string [Term] id: Orphanet:123352 name: mirror-image polydactyly 1 xref: ENSEMBL:ENSG00000151338 xref: GENATLAS:MIPOL1 xref: HGNC:21460 xref: OMIM:606850 xref: UNIPROTKB/SWISSPROT:Q8TD10 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2378 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Laurin-Sandrow syndrome property_value: symbol "MIPOL1" xsd:string [Term] id: Orphanet:123357 name: component of oligomeric golgi complex 8 xref: ENSEMBL:ENSG00000213380 xref: GENATLAS:COG8 xref: HGNC:18623 xref: OMIM:606979 xref: UNIPROTKB/SWISSPROT:Q96MW5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:95428 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! COG8-CDG property_value: alternative:term "DOR1" xsd:string property_value: alternative:term "FLJ22315" xsd:string property_value: symbol "COG8" xsd:string [Term] id: Orphanet:123359 name: crystallin, beta B1 xref: ENSEMBL:ENSG00000100122 xref: GENATLAS:CRYBB1 xref: HGNC:2397 xref: OMIM:600929 xref: UNIPROTKB/SWISSPROT:P53674 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1377 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cataract-microcornea syndrome relationship: Orphanet:317343 Orphanet:98984 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pulverulent cataract relationship: Orphanet:317343 Orphanet:98991 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nuclear cataract property_value: symbol "CRYBB1" xsd:string [Term] id: Orphanet:123364 name: homeobox A1 xref: ENSEMBL:ENSG00000105991 xref: GENATLAS:HOXA1 xref: HGNC:5099 xref: OMIM:142955 xref: UNIPROTKB/SWISSPROT:P49639 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:69737 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bosley-Salih-Alorainy syndrome relationship: Orphanet:317343 Orphanet:69739 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Athabaskan brainstem dysgenesis syndrome property_value: alternative:term "homeo box A1" xsd:string property_value: alternative:term "HOX1" xsd:string property_value: alternative:term "HOX1F" xsd:string property_value: symbol "HOXA1" xsd:string [Term] id: Orphanet:123369 name: transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) xref: ENSEMBL:ENSG00000168394 xref: GENATLAS:TAP1 xref: HGNC:43 xref: OMIM:170260 xref: REACTOME:Q03518 xref: UNIPROTKB/SWISSPROT:Q03518 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:34592 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency by defective expression of HLA class 1 property_value: alternative:term "ABCB2" xsd:string property_value: alternative:term "D6S114E" xsd:string property_value: alternative:term "PSF1" xsd:string property_value: alternative:term "RING4" xsd:string property_value: symbol "TAP1" xsd:string [Term] id: Orphanet:123371 name: TAP binding protein (tapasin) xref: ENSEMBL:ENSG00000231925 xref: GENATLAS:TAPBP xref: HGNC:11566 xref: OMIM:601962 xref: REACTOME:O15533 xref: UNIPROTKB/SWISSPROT:O15533 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:34592 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency by defective expression of HLA class 1 property_value: alternative:term "TAPA" xsd:string property_value: symbol "TAPBP" xsd:string [Term] id: Orphanet:123373 name: RAB23, member RAS oncogene family xref: ENSEMBL:ENSG00000112210 xref: GENATLAS:RAB23 xref: HGNC:14263 xref: OMIM:606144 xref: UNIPROTKB/SWISSPROT:Q9ULC3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:65759 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Carpenter syndrome property_value: symbol "RAB23" xsd:string [Term] id: Orphanet:123375 name: dolichol kinase xref: ENSEMBL:ENSG00000175283 xref: GENATLAS:DOLK xref: HGNC:23406 xref: OMIM:610746 xref: REACTOME:Q9UPQ8 xref: UNIPROTKB/SWISSPROT:Q9UPQ8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317343 Orphanet:91131 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! DK1-CDG property_value: alternative:term "DK1" xsd:string property_value: alternative:term "dolichol kinase 1" xsd:string property_value: alternative:term "KIAA1094" xsd:string property_value: alternative:term "TMEM15" xsd:string property_value: alternative:term "transmembrane protein 15" xsd:string property_value: symbol "DOLK" xsd:string [Term] id: Orphanet:123381 name: cytokine receptor-like factor 1 xref: ENSEMBL:ENSG00000006016 xref: GENATLAS:CRLF1 xref: HGNC:2364 xref: OMIM:604237 xref: UNIPROTKB/SWISSPROT:O75462 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1545 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Crisponi syndrome relationship: Orphanet:317343 Orphanet:157820 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cold-induced sweating syndrome property_value: alternative:term "CISS" xsd:string property_value: alternative:term "CISS1" xsd:string property_value: alternative:term "CLF" xsd:string property_value: alternative:term "CLF-1" xsd:string property_value: alternative:term "cold-induced sweating syndrome" xsd:string property_value: symbol "CRLF1" xsd:string [Term] id: Orphanet:123389 name: aminoadipate-semialdehyde synthase xref: ENSEMBL:ENSG00000008311 xref: GENATLAS:AASS xref: HGNC:17366 xref: OMIM:605113 xref: REACTOME:Q9UDR5 xref: UNIPROTKB/SWISSPROT:Q9UDR5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2203 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperlysinemia relationship: Orphanet:317343 Orphanet:3124 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Saccharopinuria property_value: alternative:term "Aminoadipate-semialdehyde synthase gene" xsd:string property_value: alternative:term "LKRSDH" xsd:string property_value: alternative:term "LORSDH" xsd:string property_value: symbol "AASS" xsd:string [Term] id: Orphanet:123393 name: adenomatous polyposis coli xref: ENSEMBL:ENSG00000134982 xref: GENATLAS:APC xref: HGNC:583 xref: OMIM:611731 xref: REACTOME:P25054 xref: UNIPROTKB/SWISSPROT:P25054 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:247806 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! APC-related attenuated familial adenomatous polyposis relationship: Orphanet:317343 Orphanet:79665 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gardner syndrome relationship: Orphanet:317343 Orphanet:99818 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Turcot syndrome with polyposis relationship: Orphanet:317344 Orphanet:873 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Desmoid tumor relationship: Orphanet:317349 Orphanet:261584 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial adenomatous polyposis due to 5q22.2 microdeletion property_value: alternative:term "adenomatosis polyposis coli" xsd:string property_value: alternative:term "Adenomatosis polyposis coli gene" xsd:string property_value: alternative:term "DP2" xsd:string property_value: alternative:term "DP2.5" xsd:string property_value: alternative:term "DP3" xsd:string property_value: alternative:term "PPP1R46" xsd:string property_value: alternative:term "protein phosphatase 1, regulatory subunit 46" xsd:string property_value: symbol "APC" xsd:string [Term] id: Orphanet:1234 name: Bartsocas-Papas syndrome xref: ICD10:Q87.2 xref: OMIM:263650 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183533 ! Genetic multiple congenital anomalies/dysmorphic syndrome relationship: part_of Orphanet:294963 ! Popliteal pterygium syndrome relationship: part_of Orphanet:68341 ! Multiple congenital anomalies/dysmorphic syndrome relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Autosomal recessive popliteal pterygium syndrome" xsd:string property_value: alternative:term "Lethal popliteal pterygium syndrome" xsd:string [Term] id: Orphanet:123406 name: Bloom syndrome, RecQ helicase-like xref: ENSEMBL:ENSG00000197299 xref: GENATLAS:BLM xref: HGNC:1058 xref: OMIM:604610 xref: REACTOME:P54132 xref: UNIPROTKB/SWISSPROT:P54132 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:125 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bloom syndrome property_value: alternative:term "Bloom syndrome" xsd:string property_value: alternative:term "Bloom syndrome gene" xsd:string property_value: alternative:term "BS" xsd:string property_value: alternative:term "RECQ2" xsd:string property_value: alternative:term "RECQL3" xsd:string property_value: symbol "BLM" xsd:string [Term] id: Orphanet:123411 name: hemochromatosis xref: ENSEMBL:ENSG00000010704 xref: GENATLAS:HFE xref: HGNC:4886 xref: OMIM:613609 xref: UNIPROTKB/SWISSPROT:Q30201 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79473 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Porphyria variegata relationship: Orphanet:317345 Orphanet:101330 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Porphyria cutanea tarda property_value: alternative:term "Hemochromatosis gene" xsd:string property_value: alternative:term "high Fe" xsd:string property_value: alternative:term "HLA-H" xsd:string property_value: symbol "HFE" xsd:string [Term] id: Orphanet:123414 name: hemochromatosis type 2 (juvenile) xref: ENSEMBL:ENSG00000168509 xref: GENATLAS:HFE2 xref: HGNC:4887 xref: OMIM:608374 xref: REACTOME:Q6ZVN8 xref: UNIPROTKB/SWISSPROT:Q6ZVN8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79230 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemochromatosis type 2 property_value: alternative:term "haemojuvelin" xsd:string property_value: alternative:term "Hemochromatosis type 2 (juvenile) gene" xsd:string property_value: alternative:term "hemojuvelin" xsd:string property_value: alternative:term "HFE2A" xsd:string property_value: alternative:term "HJV" xsd:string property_value: alternative:term "JH" xsd:string property_value: alternative:term "repulsive guidance molecule c" xsd:string property_value: alternative:term "RGMC" xsd:string property_value: symbol "HFE2" xsd:string [Term] id: Orphanet:123421 name: proopiomelanocortin xref: ENSEMBL:ENSG00000115138 xref: GENATLAS:POMC xref: HGNC:9201 xref: OMIM:176830 xref: REACTOME:P01189 xref: UNIPROTKB/SWISSPROT:P01189 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:71526 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Obesity due to pro-opiomelanocortin deficiency property_value: alternative:term "ACTH" xsd:string property_value: alternative:term "adrenocorticotropic hormone" xsd:string property_value: alternative:term "adrenocorticotropin" xsd:string property_value: alternative:term "alpha-melanocyte stimulating hormone" xsd:string property_value: alternative:term "beta-endorphin" xsd:string property_value: alternative:term "beta-lipotropin" xsd:string property_value: alternative:term "beta-melanocyte stimulating hormone" xsd:string property_value: alternative:term "CLIP" xsd:string property_value: alternative:term "LPH" xsd:string property_value: alternative:term "MSH" xsd:string property_value: alternative:term "NPP" xsd:string property_value: alternative:term "opiomelanocortin prepropeptide" xsd:string property_value: alternative:term "POC" xsd:string property_value: alternative:term "Proopiomelanocortin gene" xsd:string property_value: symbol "POMC" xsd:string [Term] id: Orphanet:123426 name: solute carrier family 3 (amino acid transporter heavy chain), member 1 xref: ENSEMBL:ENSG00000138079 xref: GENATLAS:SLC3A1 xref: HGNC:11025 xref: OMIM:104614 xref: REACTOME:Q07837 xref: UNIPROTKB/SWISSPROT:Q07837 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:238523 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atypical hypotonia - cystinuria syndrome relationship: Orphanet:317343 Orphanet:93612 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cystinuria type A relationship: Orphanet:317349 Orphanet:163690 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hypotonia - cystinuria syndrome relationship: Orphanet:317349 Orphanet:163693 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 2p21 microdeletion syndrome property_value: alternative:term "ATR1" xsd:string property_value: alternative:term "CSNU1" xsd:string property_value: alternative:term "D2H" xsd:string property_value: alternative:term "NBAT" xsd:string property_value: alternative:term "RBAT" xsd:string property_value: alternative:term "Solute carrier family 3 (cystine and activator, dibasic and neutral amino acid transporters/transport), member 1" xsd:string property_value: symbol "SLC3A1" xsd:string [Term] id: Orphanet:123431 name: sclerostin xref: ENSEMBL:ENSG00000167941 xref: GENATLAS:SOST xref: HGNC:13771 xref: OMIM:605740 xref: UNIPROTKB/SWISSPROT:Q9BQB4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1513 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Craniodiaphyseal dysplasia relationship: Orphanet:317343 Orphanet:3152 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sclerosteosis relationship: Orphanet:317349 Orphanet:3416 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hyperostosis corticalis generalisata property_value: alternative:term "sclerosteosis" xsd:string property_value: alternative:term "Sclerosteosis gene" xsd:string property_value: alternative:term "VBCH" xsd:string property_value: symbol "SOST" xsd:string [Term] id: Orphanet:123433 name: methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria xref: ENSEMBL:ENSG00000132763 xref: GENATLAS:MMACHC xref: HGNC:24525 xref: OMIM:609831 xref: REACTOME:Q9Y4U1 xref: UNIPROTKB/SWISSPROT:Q9Y4U1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79282 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Methylmalonic acidemia with homocystinuria, type cblC property_value: alternative:term "cblC" xsd:string property_value: alternative:term "DKFZP564I122" xsd:string property_value: symbol "MMACHC" xsd:string [Term] id: Orphanet:123436 name: matrix metallopeptidase 13 (collagenase 3) xref: ENSEMBL:ENSG00000137745 xref: GENATLAS:MMP13 xref: HGNC:7159 xref: IUPHAR:1637 xref: OMIM:600108 xref: REACTOME:P45452 xref: UNIPROTKB/SWISSPROT:P45452 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1040 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Metaphyseal anadysplasia relationship: Orphanet:317343 Orphanet:93356 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spondyloepimetaphyseal dysplasia, Missouri type property_value: alternative:term "CLG3" xsd:string property_value: alternative:term "collagenase 3" xsd:string property_value: alternative:term "matrix metalloproteinase 13 (collagenase 3)" xsd:string property_value: symbol "MMP13" xsd:string [Term] id: Orphanet:123439 name: matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) xref: ENSEMBL:ENSG00000087245 xref: GENATLAS:MMP2 xref: HGNC:7166 xref: IUPHAR:1629 xref: OMIM:120360 xref: REACTOME:P08253 xref: UNIPROTKB/SWISSPROT:P08253 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3460 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Torg-Winchester syndrome relationship: Orphanet:317343 Orphanet:85196 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nodulosis-arthropathy-osteolysis syndrome property_value: alternative:term "CLG4" xsd:string property_value: alternative:term "CLG4A" xsd:string property_value: alternative:term "matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)" xsd:string property_value: alternative:term "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)" xsd:string property_value: alternative:term "TBE-1" xsd:string property_value: symbol "MMP2" xsd:string [Term] id: Orphanet:123447 name: molybdenum cofactor sulfurase xref: ENSEMBL:ENSG00000075643 xref: GENATLAS:MOCOS xref: HGNC:18234 xref: OMIM:613274 xref: REACTOME:Q96EN8 xref: UNIPROTKB/SWISSPROT:Q96EN8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93602 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Xanthinuria type II property_value: alternative:term "FLJ20733" xsd:string property_value: alternative:term "HMCS" xsd:string property_value: alternative:term "MOS" xsd:string property_value: symbol "MOCOS" xsd:string [Term] id: Orphanet:123452 name: molybdenum cofactor synthesis 1 xref: ENSEMBL:ENSG00000124615 xref: GENATLAS:MOCS1 xref: HGNC:7190 xref: OMIM:603707 xref: REACTOME:Q9NZB8 xref: UNIPROTKB/SWISSPROT:Q9NZB8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:308386 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A property_value: alternative:term "MOCOD" xsd:string property_value: symbol "MOCS1" xsd:string [Term] id: Orphanet:123455 name: molybdenum cofactor synthesis 2 xref: ENSEMBL:ENSG00000164172 xref: GENATLAS:MOCS2 xref: HGNC:7193 xref: OMIM:603708 xref: REACTOME:O96033 xref: UNIPROTKB/SWISSPROT:O96033 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:308393 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B property_value: alternative:term "MOCO1" xsd:string property_value: symbol "MOCS2" xsd:string [Term] id: Orphanet:123458 name: mannose-P-dolichol utilization defect 1 xref: ENSEMBL:ENSG00000129255 xref: GENATLAS:MPDU1 xref: HGNC:7207 xref: OMIM:604041 xref: UNIPROTKB/SWISSPROT:O75352 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79323 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MPDU1-CDG property_value: alternative:term "CDGIf" xsd:string property_value: alternative:term "Lec35" xsd:string property_value: alternative:term "PQLC5" xsd:string property_value: alternative:term "SL15" xsd:string property_value: symbol "MPDU1" xsd:string [Term] id: Orphanet:123463 name: mannose phosphate isomerase xref: ENSEMBL:ENSG00000178802 xref: GENATLAS:MPI xref: HGNC:7216 xref: OMIM:154550 xref: REACTOME:P34949 xref: UNIPROTKB/SWISSPROT:P34949 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79319 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MPI-CDG property_value: alternative:term "mannose-6-phosphate isomerase" xsd:string property_value: symbol "MPI" xsd:string [Term] id: Orphanet:123465 name: myeloproliferative leukemia virus oncogene xref: ENSEMBL:ENSG00000117400 xref: GENATLAS:MPL xref: HGNC:7217 xref: IUPHAR:1722 xref: OMIM:159530 xref: REACTOME:P40238 xref: UNIPROTKB/SWISSPROT:P40238 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3319 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital amegakaryocytic thrombocytopenia relationship: Orphanet:317343 Orphanet:71493 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial thrombocytosis relationship: Orphanet:317344 Orphanet:3318 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Essential thrombocythemia relationship: Orphanet:317344 Orphanet:729 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Polycythemia vera relationship: Orphanet:317344 Orphanet:824 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myelofibrosis with myeloid metaplasia property_value: alternative:term "CD110" xsd:string property_value: alternative:term "TPOR" xsd:string property_value: symbol "MPL" xsd:string [Term] id: Orphanet:123468 name: myeloperoxidase xref: ENSEMBL:ENSG00000005381 xref: GENATLAS:MPO xref: HGNC:7218 xref: OMIM:606989 xref: UNIPROTKB/SWISSPROT:P05164 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2587 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myeloperoxidase deficiency property_value: symbol "MPO" xsd:string [Term] id: Orphanet:123470 name: MpV17 mitochondrial inner membrane protein xref: ENSEMBL:ENSG00000115204 xref: GENATLAS:MPV17 xref: HGNC:7224 xref: OMIM:137960 xref: UNIPROTKB/SWISSPROT:P39210 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:255229 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Navajo neurohepatopathy property_value: alternative:term "glomerulosclerosis" xsd:string property_value: alternative:term "MpV17 transgene, murine homolog, glomerulosclerosis" xsd:string property_value: alternative:term "SYM1" xsd:string property_value: symbol "MPV17" xsd:string [Term] id: Orphanet:123473 name: myelin protein zero xref: ENSEMBL:ENSG00000158887 xref: GENATLAS:MPZ xref: HGNC:7225 xref: OMIM:159440 xref: UNIPROTKB/SWISSPROT:P25189 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100046 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant intermediate Charcot-Marie-Tooth disease type D relationship: Orphanet:317343 Orphanet:101082 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Charcot-Marie-Tooth disease type 1B relationship: Orphanet:317343 Orphanet:3115 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Roussy-Lévy syndrome relationship: Orphanet:317343 Orphanet:324585 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain relationship: Orphanet:317343 Orphanet:64748 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dejerine-Sottas syndrome relationship: Orphanet:317343 Orphanet:99942 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Charcot-Marie-Tooth disease type 2I relationship: Orphanet:317343 Orphanet:99943 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Charcot-Marie-Tooth disease type 2J property_value: alternative:term "Charcot-Marie-Tooth neuropathy 1B" xsd:string property_value: alternative:term "CMT1" xsd:string property_value: alternative:term "CMT1B" xsd:string property_value: alternative:term "HMSNIB" xsd:string property_value: alternative:term "Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)" xsd:string property_value: symbol "MPZ" xsd:string [Term] id: Orphanet:123478 name: melanocortin 2 receptor accessory protein xref: ENSEMBL:ENSG00000170262 xref: GENATLAS:MRAP xref: HGNC:1304 xref: OMIM:609196 xref: UNIPROTKB/SWISSPROT:Q8TCY5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:361 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial glucocorticoid deficiency property_value: alternative:term "B27" xsd:string property_value: alternative:term "C21orf61" xsd:string property_value: alternative:term "chromosome 21 open reading frame 61" xsd:string property_value: alternative:term "FALP" xsd:string property_value: symbol "MRAP" xsd:string [Term] id: Orphanet:123483 name: MRE11 meiotic recombination 11 homolog A (S. cerevisiae) xref: ENSEMBL:ENSG00000020922 xref: GENATLAS:MRE11A xref: HGNC:7230 xref: OMIM:600814 xref: REACTOME:P49959 xref: UNIPROTKB/SWISSPROT:P49959 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:145 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary breast and ovarian cancer syndrome relationship: Orphanet:317343 Orphanet:251347 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ataxia-telangiectasia-like disorder property_value: alternative:term "AT-like disease" xsd:string property_value: alternative:term "ATLD" xsd:string property_value: alternative:term "meiotic recombination (S. cerevisiae) 11 homolog A" xsd:string property_value: alternative:term "MRE11" xsd:string property_value: symbol "MRE11A" xsd:string [Term] id: Orphanet:123487 name: mutS homolog 2 xref: ENSEMBL:ENSG00000095002 xref: GENATLAS:MSH2 xref: HGNC:7325 xref: OMIM:609309 xref: UNIPROTKB/SWISSPROT:P43246 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:144 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary nonpolyposis colon cancer relationship: Orphanet:317343 Orphanet:252202 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Constitutional mismatch repair deficiency syndrome relationship: Orphanet:317343 Orphanet:587 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Muir-Torre syndrome relationship: Orphanet:317343 Orphanet:99817 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Non-polyposis Turcot syndrome property_value: alternative:term "COCA1" xsd:string property_value: alternative:term "HNPCC" xsd:string property_value: alternative:term "HNPCC1" xsd:string property_value: alternative:term "mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)" xsd:string property_value: alternative:term "MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)" xsd:string property_value: symbol "MSH2" xsd:string [Term] id: Orphanet:123492 name: mutS homolog 6 xref: ENSEMBL:ENSG00000116062 xref: GENATLAS:MSH6 xref: HGNC:7329 xref: OMIM:600678 xref: UNIPROTKB/SWISSPROT:P52701 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:144 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary nonpolyposis colon cancer relationship: Orphanet:317343 Orphanet:252202 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Constitutional mismatch repair deficiency syndrome relationship: Orphanet:317343 Orphanet:587 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Muir-Torre syndrome relationship: Orphanet:317343 Orphanet:99817 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Non-polyposis Turcot syndrome property_value: alternative:term "GTBP" xsd:string property_value: alternative:term "mutS (E. coli) homolog 6" xsd:string property_value: alternative:term "MutS homolog 6 (E. coli)" xsd:string property_value: symbol "MSH6" xsd:string [Term] id: Orphanet:123495 name: msh homeobox 1 xref: ENSEMBL:ENSG00000163132 xref: GENATLAS:MSX1 xref: HGNC:7391 xref: OMIM:142983 xref: UNIPROTKB/SWISSPROT:P28360 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2228 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypodontia - dysplasia of nails relationship: Orphanet:317343 Orphanet:99798 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oligodontia property_value: alternative:term "HOX7" xsd:string property_value: alternative:term "HYD1" xsd:string property_value: alternative:term "msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)" xsd:string property_value: alternative:term "msh homeobox homolog 1 (Drosophila)" xsd:string property_value: alternative:term "OFC5" xsd:string property_value: symbol "MSX1" xsd:string [Term] id: Orphanet:1235 name: Ectodermal dysplasia - absent dermatoglyphs is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_1658 with label: Absence of fingerprints - congenital milia" xsd:string [Term] id: Orphanet:123500 name: msh homeobox 2 xref: ENSEMBL:ENSG00000120149 xref: GENATLAS:MSX2 xref: HGNC:7392 xref: OMIM:123101 xref: UNIPROTKB/SWISSPROT:P35548 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1541 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Craniosynostosis, Boston type relationship: Orphanet:317343 Orphanet:251290 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Parietal foramina with cleidocranial dysplasia relationship: Orphanet:317343 Orphanet:60015 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Parietal foramina property_value: alternative:term "craniosynostosis, type 2" xsd:string property_value: alternative:term "CRS2" xsd:string property_value: alternative:term "FPP" xsd:string property_value: alternative:term "HOX8" xsd:string property_value: alternative:term "MSH" xsd:string property_value: alternative:term "msh (Drosophila) homeo box homolog 2" xsd:string property_value: alternative:term "msh homeobox homolog 2 (Drosophila)" xsd:string property_value: alternative:term "parietal foramina 1" xsd:string property_value: alternative:term "PFM" xsd:string property_value: alternative:term "PFM1" xsd:string property_value: symbol "MSX2" xsd:string [Term] id: Orphanet:123508 name: mitochondrially encoded ATP synthase 6 xref: ENSEMBL:ENSG00000198899 xref: GENATLAS:MT-ATP6 xref: HGNC:7414 xref: OMIM:516060 xref: REACTOME:P00846 xref: UNIPROTKB/SWISSPROT:P00846 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:104 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber hereditary optic neuropathy relationship: Orphanet:317343 Orphanet:225154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial infantile bilateral striatal necrosis relationship: Orphanet:317343 Orphanet:255210 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited Leigh syndrome relationship: Orphanet:317343 Orphanet:320360 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited spastic paraplegia relationship: Orphanet:317343 Orphanet:644 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! NARP syndrome property_value: alternative:term "ATP synthase 6" xsd:string property_value: alternative:term "ATP6" xsd:string property_value: alternative:term "ATPase-6" xsd:string property_value: alternative:term "MTATP6" xsd:string property_value: alternative:term "RP" xsd:string property_value: alternative:term "spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit" xsd:string property_value: alternative:term "Su6m" xsd:string property_value: symbol "MT-ATP6" xsd:string [Term] id: Orphanet:123512 name: mitochondrially encoded cytochrome c oxidase I xref: ENSEMBL:ENSG00000198804 xref: GENATLAS:MT-CO1 xref: HGNC:7419 xref: OMIM:516030 xref: REACTOME:P00395 xref: UNIPROTKB/SWISSPROT:P00395 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:168609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure relationship: Orphanet:317343 Orphanet:254905 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated cytochrome C oxidase deficiency relationship: Orphanet:317343 Orphanet:255210 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited Leigh syndrome relationship: Orphanet:317343 Orphanet:550 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MELAS syndrome relationship: Orphanet:317343 Orphanet:90641 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial nonsyndromic sensorineural deafness relationship: Orphanet:317343 Orphanet:99845 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Genetic recurrent myoglobinuria relationship: Orphanet:327767 Orphanet:104 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber hereditary optic neuropathy property_value: alternative:term "COI" xsd:string property_value: alternative:term "COX1" xsd:string property_value: alternative:term "cytochrome c oxidase I" xsd:string property_value: alternative:term "MTCO1" xsd:string property_value: symbol "MT-CO1" xsd:string [Term] id: Orphanet:123516 name: mitochondrially encoded cytochrome c oxidase II xref: ENSEMBL:ENSG00000198712 xref: GENATLAS:MT-CO2 xref: HGNC:7421 xref: OMIM:516040 xref: REACTOME:P00403 xref: UNIPROTKB/SWISSPROT:P00403 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:254905 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated cytochrome C oxidase deficiency relationship: Orphanet:317343 Orphanet:255210 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited Leigh syndrome relationship: Orphanet:317343 Orphanet:550 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MELAS syndrome property_value: alternative:term "CO2" xsd:string property_value: alternative:term "COX2" xsd:string property_value: alternative:term "cytochrome c oxidase II" xsd:string property_value: alternative:term "MTCO2" xsd:string property_value: symbol "MT-CO2" xsd:string [Term] id: Orphanet:123520 name: mitochondrially encoded cytochrome c oxidase III xref: ENSEMBL:ENSG00000198938 xref: GENATLAS:MT-CO3 xref: HGNC:7422 xref: OMIM:516050 xref: REACTOME:P00414 xref: UNIPROTKB/SWISSPROT:P00414 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:104 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber hereditary optic neuropathy relationship: Orphanet:317343 Orphanet:254905 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated cytochrome C oxidase deficiency relationship: Orphanet:317343 Orphanet:255210 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited Leigh syndrome relationship: Orphanet:317343 Orphanet:550 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MELAS syndrome relationship: Orphanet:317343 Orphanet:99845 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Genetic recurrent myoglobinuria property_value: alternative:term "CO3" xsd:string property_value: alternative:term "COIII" xsd:string property_value: alternative:term "COX3" xsd:string property_value: alternative:term "cytochrome c oxidase III" xsd:string property_value: alternative:term "MTCO3" xsd:string property_value: symbol "MT-CO3" xsd:string [Term] id: Orphanet:123524 name: mitochondrially encoded cytochrome b xref: ENSEMBL:ENSG00000198727 xref: GENATLAS:MT-CYB xref: HGNC:7427 xref: OMIM:516020 xref: REACTOME:P00156 xref: UNIPROTKB/SWISSPROT:P00156 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:104 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber hereditary optic neuropathy relationship: Orphanet:317343 Orphanet:137675 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Histiocytoid cardiomyopathy relationship: Orphanet:317343 Orphanet:1460 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated CoQ-cytochrome C reductase deficiency property_value: alternative:term "COB" xsd:string property_value: alternative:term "CYTB" xsd:string property_value: alternative:term "cytochrome b" xsd:string property_value: alternative:term "MTCYB" xsd:string property_value: alternative:term "UQCR3" xsd:string property_value: symbol "MT-CYB" xsd:string [Term] id: Orphanet:123529 name: methylenetetrahydrofolate reductase (NAD(P)H) xref: ENSEMBL:ENSG00000177000 xref: GENATLAS:MTHFR xref: HGNC:7436 xref: OMIM:607093 xref: REACTOME:P42898 xref: UNIPROTKB/SWISSPROT:P42898 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:395 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Homocystinuria due to methylene tetrahydrofolate reductase deficiency relationship: Orphanet:317345 Orphanet:1048 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated anencephaly/exencephaly relationship: Orphanet:317345 Orphanet:268377 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Total spina bifida aperta relationship: Orphanet:317345 Orphanet:268384 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thoracolumbosacral spina bifida aperta relationship: Orphanet:317345 Orphanet:268388 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lumbosacral spina bifida aperta relationship: Orphanet:317345 Orphanet:268392 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervical spina bifida aperta relationship: Orphanet:317345 Orphanet:268397 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervicothoracic spina bifida aperta relationship: Orphanet:317345 Orphanet:268740 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Upper thoracic spina bifida aperta relationship: Orphanet:317345 Orphanet:268748 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Total spina bifida cystica relationship: Orphanet:317345 Orphanet:268752 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thoracolumbosacral spina bifida cystica relationship: Orphanet:317345 Orphanet:268758 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lumbosacral spina bifida cystica relationship: Orphanet:317345 Orphanet:268762 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervical spina bifida cystica relationship: Orphanet:317345 Orphanet:268766 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervicothoracic spina bifida cystica relationship: Orphanet:317345 Orphanet:268770 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Upper thoracic spina bifida cystica relationship: Orphanet:317345 Orphanet:90070 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Methotrexate poisoning property_value: alternative:term "5,10-methylenetetrahydrofolate reductase (NADPH)" xsd:string property_value: symbol "MTHFR" xsd:string [Term] id: Orphanet:123531 name: myotubularin 1 xref: ENSEMBL:ENSG00000171100 xref: GENATLAS:MTM1 xref: HGNC:7448 xref: OMIM:300415 xref: REACTOME:Q13496 xref: UNIPROTKB/SWISSPROT:Q13496 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:596 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! X-linked centronuclear myopathy property_value: alternative:term "myotubular myopathy 1" xsd:string property_value: symbol "MTM1" xsd:string [Term] id: Orphanet:123533 name: myotubularin related protein 2 xref: ENSEMBL:ENSG00000087053 xref: GENATLAS:MTMR2 xref: HGNC:7450 xref: OMIM:603557 xref: REACTOME:Q13614 xref: UNIPROTKB/SWISSPROT:Q13614 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99955 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Charcot-Marie-Tooth disease type 4B1 property_value: alternative:term "CMT4B" xsd:string property_value: alternative:term "KIAA1073" xsd:string property_value: symbol "MTMR2" xsd:string [Term] id: Orphanet:123537 name: mitochondrially encoded NADH dehydrogenase 1 xref: ENSEMBL:ENSG00000198888 xref: GENATLAS:MT-ND1 xref: HGNC:7455 xref: OMIM:516000 xref: REACTOME:P03886 xref: UNIPROTKB/SWISSPROT:P03886 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:104 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber hereditary optic neuropathy relationship: Orphanet:317343 Orphanet:255210 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited Leigh syndrome relationship: Orphanet:317343 Orphanet:550 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MELAS syndrome property_value: alternative:term "complex I ND1 subunit" xsd:string property_value: alternative:term "MTND1" xsd:string property_value: alternative:term "NAD1" xsd:string property_value: alternative:term "NADH dehydrogenase 1" xsd:string property_value: alternative:term "NADH-ubiquinone oxidoreductase chain 1" xsd:string property_value: alternative:term "ND1" xsd:string property_value: symbol "MT-ND1" xsd:string [Term] id: Orphanet:123542 name: mitochondrially encoded NADH dehydrogenase 2 xref: ENSEMBL:ENSG00000198763 xref: GENATLAS:MT-ND2 xref: HGNC:7456 xref: OMIM:516001 xref: REACTOME:P03891 xref: UNIPROTKB/SWISSPROT:P03891 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:104 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber hereditary optic neuropathy relationship: Orphanet:317343 Orphanet:255210 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited Leigh syndrome relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency property_value: alternative:term "complex I ND2 subunit" xsd:string property_value: alternative:term "MTND2" xsd:string property_value: alternative:term "NAD2" xsd:string property_value: alternative:term "NADH dehydrogenase 2" xsd:string property_value: alternative:term "NADH-ubiquinone oxidoreductase chain 2" xsd:string property_value: alternative:term "ND2" xsd:string property_value: symbol "MT-ND2" xsd:string [Term] id: Orphanet:123547 name: mitochondrially encoded NADH dehydrogenase 3 xref: ENSEMBL:ENSG00000198840 xref: GENATLAS:MT-ND3 xref: HGNC:7458 xref: OMIM:516002 xref: REACTOME:P03897 xref: UNIPROTKB/SWISSPROT:P03897 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:255199 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Sporadic Leigh syndrome relationship: Orphanet:317343 Orphanet:255210 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited Leigh syndrome relationship: Orphanet:317343 Orphanet:99718 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber 'plus' disease property_value: alternative:term "complex I ND3 subunit" xsd:string property_value: alternative:term "MTND3" xsd:string property_value: alternative:term "NAD3" xsd:string property_value: alternative:term "NADH dehydrogenase 3" xsd:string property_value: alternative:term "NADH-ubiquinone oxidoreductase chain 3" xsd:string property_value: alternative:term "ND3" xsd:string property_value: symbol "MT-ND3" xsd:string [Term] id: Orphanet:123552 name: mitochondrially encoded NADH dehydrogenase 4 xref: ENSEMBL:ENSG00000198886 xref: GENATLAS:MT-ND4 xref: HGNC:7459 xref: OMIM:516003 xref: REACTOME:P03905 xref: UNIPROTKB/SWISSPROT:P03905 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:104 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber hereditary optic neuropathy relationship: Orphanet:317343 Orphanet:168609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure relationship: Orphanet:317343 Orphanet:255210 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited Leigh syndrome relationship: Orphanet:317343 Orphanet:550 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MELAS syndrome relationship: Orphanet:317343 Orphanet:99718 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber 'plus' disease property_value: alternative:term "complex I ND4 subunit" xsd:string property_value: alternative:term "MTND4" xsd:string property_value: alternative:term "NAD4" xsd:string property_value: alternative:term "NADH dehydrogenase 4" xsd:string property_value: alternative:term "NADH-ubiquinone oxidoreductase chain 4" xsd:string property_value: alternative:term "ND4" xsd:string property_value: symbol "MT-ND4" xsd:string [Term] id: Orphanet:123557 name: mitochondrially encoded NADH dehydrogenase 4L xref: ENSEMBL:ENSG00000212907 xref: GENATLAS:MT-ND4L xref: HGNC:7460 xref: OMIM:516004 xref: REACTOME:P03901 xref: UNIPROTKB/SWISSPROT:P03901 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:104 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber hereditary optic neuropathy property_value: alternative:term "complex I ND4L subunit" xsd:string property_value: alternative:term "MTND4L" xsd:string property_value: alternative:term "NAD4L" xsd:string property_value: alternative:term "NADH dehydrogenase 4L" xsd:string property_value: alternative:term "NADH-ubiquinone oxidoreductase chain 4L" xsd:string property_value: alternative:term "ND4L" xsd:string property_value: symbol "MT-ND4L" xsd:string [Term] id: Orphanet:123562 name: mitochondrially encoded NADH dehydrogenase 5 xref: ENSEMBL:ENSG00000198786 xref: GENATLAS:MT-ND5 xref: HGNC:7461 xref: OMIM:516005 xref: REACTOME:P03915 xref: UNIPROTKB/SWISSPROT:P03915 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:104 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber hereditary optic neuropathy relationship: Orphanet:317343 Orphanet:255199 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Sporadic Leigh syndrome relationship: Orphanet:317343 Orphanet:255210 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited Leigh syndrome relationship: Orphanet:317343 Orphanet:550 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MELAS syndrome relationship: Orphanet:317343 Orphanet:551 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MERRF syndrome property_value: alternative:term "complex I ND5 subunit" xsd:string property_value: alternative:term "MTND5" xsd:string property_value: alternative:term "NAD5" xsd:string property_value: alternative:term "NADH dehydrogenase 5" xsd:string property_value: alternative:term "NADH-ubiquinone oxidoreductase chain 5" xsd:string property_value: alternative:term "ND5" xsd:string property_value: symbol "MT-ND5" xsd:string [Term] id: Orphanet:123567 name: mitochondrially encoded NADH dehydrogenase 6 xref: ENSEMBL:ENSG00000198695 xref: GENATLAS:MT-ND6 xref: HGNC:7462 xref: OMIM:516006 xref: REACTOME:P03923 xref: UNIPROTKB/SWISSPROT:P03923 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:104 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber hereditary optic neuropathy relationship: Orphanet:317343 Orphanet:255199 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Sporadic Leigh syndrome relationship: Orphanet:317343 Orphanet:255210 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited Leigh syndrome relationship: Orphanet:317343 Orphanet:550 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MELAS syndrome relationship: Orphanet:317343 Orphanet:99718 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber 'plus' disease property_value: alternative:term "complex I ND6 subunit" xsd:string property_value: alternative:term "MTND6" xsd:string property_value: alternative:term "NAD6" xsd:string property_value: alternative:term "NADH dehydrogenase 6" xsd:string property_value: alternative:term "NADH-ubiquinone oxidoreductase chain 6" xsd:string property_value: alternative:term "ND6" xsd:string property_value: symbol "MT-ND6" xsd:string [Term] id: Orphanet:123572 name: 5-methyltetrahydrofolate-homocysteine methyltransferase xref: ENSEMBL:ENSG00000116984 xref: GENATLAS:MTR xref: HGNC:7468 xref: OMIM:156570 xref: REACTOME:Q99707 xref: UNIPROTKB/SWISSPROT:Q99707 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2170 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Methylcobalamin deficiency type cblG property_value: alternative:term "cblG" xsd:string property_value: symbol "MTR" xsd:string [Term] id: Orphanet:123574 name: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase xref: ENSEMBL:ENSG00000124275 xref: GENATLAS:MTRR xref: HGNC:7473 xref: OMIM:602568 xref: REACTOME:Q9UBK8 xref: UNIPROTKB/SWISSPROT:Q9UBK8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2169 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Methylcobalamin deficiency type cblE property_value: alternative:term "cblE" xsd:string property_value: symbol "MTRR" xsd:string [Term] id: Orphanet:123576 name: microsomal triglyceride transfer protein xref: ENSEMBL:ENSG00000138823 xref: GENATLAS:MTTP xref: HGNC:7467 xref: OMIM:157147 xref: REACTOME:P55157 xref: UNIPROTKB/SWISSPROT:P55157 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:14 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Abetalipoproteinemia property_value: alternative:term "ABL" xsd:string property_value: alternative:term "microsomal triglyceride transfer protein (large polypeptide, 88kD)" xsd:string property_value: alternative:term "microsomal triglyceride transfer protein (large polypeptide, 88kDa)" xsd:string property_value: alternative:term "MTP" xsd:string property_value: symbol "MTTP" xsd:string [Term] id: Orphanet:123583 name: methylmalonyl CoA mutase xref: ENSEMBL:ENSG00000146085 xref: GENATLAS:MUT xref: HGNC:7526 xref: OMIM:609058 xref: REACTOME:P22033 xref: UNIPROTKB/SWISSPROT:P22033 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289916 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Vitamin B12-unresponsive methylmalonic acidemia type mut0 relationship: Orphanet:317343 Orphanet:79312 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Vitamin B12-unresponsive methylmalonic acidemia type mut- property_value: alternative:term "Methylmalonyl Coenzyme A mutase" xsd:string property_value: symbol "MUT" xsd:string [Term] id: Orphanet:123585 name: mutY homolog xref: ENSEMBL:ENSG00000132781 xref: GENATLAS:MUTYH xref: HGNC:7527 xref: OMIM:604933 xref: REACTOME:Q9UIF7 xref: UNIPROTKB/SWISSPROT:Q9UIF7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:247798 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MUTYH-related attenuated familial adenomatous polyposis relationship: Orphanet:317343 Orphanet:26106 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial gastric cancer property_value: alternative:term "mutY (E. coli) homolog" xsd:string property_value: alternative:term "MutY homolog (E. coli)" xsd:string property_value: alternative:term "MYH" xsd:string property_value: symbol "MUTYH" xsd:string [Term] id: Orphanet:123588 name: mevalonate kinase xref: ENSEMBL:ENSG00000110921 xref: GENATLAS:MVK xref: HGNC:7530 xref: IUPHAR:640 xref: OMIM:251170 xref: REACTOME:Q03426 xref: UNIPROTKB/SWISSPROT:Q03426 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:29 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mevalonic aciduria relationship: Orphanet:317343 Orphanet:343 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperimmunoglobulinemia D with periodic fever relationship: Orphanet:317343 Orphanet:79152 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Disseminated superficial actinic porokeratosis property_value: alternative:term "LH receptor mRNA-binding protein" xsd:string property_value: alternative:term "LRBP" xsd:string property_value: alternative:term "Mevalonate kinase (mevalonic aciduria)" xsd:string property_value: alternative:term "mevalonic aciduria" xsd:string property_value: alternative:term "MK" xsd:string property_value: symbol "MVK" xsd:string [Term] id: Orphanet:123590 name: MAX interactor 1, dimerization protein xref: ENSEMBL:ENSG00000119950 xref: GENATLAS:MXI1 xref: HGNC:7534 xref: OMIM:600020 xref: UNIPROTKB/SWISSPROT:P50539 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1331 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial prostate cancer property_value: alternative:term "bHLHc11" xsd:string property_value: alternative:term "MAD2" xsd:string property_value: alternative:term "MAX interacting protein 1" xsd:string property_value: alternative:term "MAX interactor 1" xsd:string property_value: alternative:term "MXD2" xsd:string property_value: alternative:term "MXI" xsd:string property_value: symbol "MXI1" xsd:string [Term] id: Orphanet:123595 name: myosin binding protein C, cardiac xref: ENSEMBL:ENSG00000134571 xref: GENATLAS:MYBPC3 xref: HGNC:7551 xref: OMIM:600958 xref: REACTOME:Q14896 xref: UNIPROTKB/SWISSPROT:Q14896 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317345 Orphanet:54260 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Left ventricular noncompaction property_value: alternative:term "CMH4" xsd:string property_value: alternative:term "FHC" xsd:string property_value: alternative:term "MYBP-C" xsd:string property_value: alternative:term "myosin-binding protein C, cardiac" xsd:string property_value: symbol "MYBPC3" xsd:string [Term] id: Orphanet:123600 name: v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog xref: ENSEMBL:ENSG00000134323 xref: GENATLAS:MYCN xref: HGNC:7559 xref: OMIM:164840 xref: UNIPROTKB/SWISSPROT:P04198 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1305 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Feingold syndrome relationship: Orphanet:317347 Orphanet:635 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Neuroblastoma relationship: Orphanet:317349 Orphanet:1305 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Feingold syndrome property_value: alternative:term "bHLHe37" xsd:string property_value: alternative:term "MYCNOT" xsd:string property_value: alternative:term "N-myc" xsd:string property_value: alternative:term "NMYC" xsd:string property_value: alternative:term "V-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)" xsd:string property_value: symbol "MYCN" xsd:string [Term] id: Orphanet:123603 name: myogenic factor 6 (herculin) xref: ENSEMBL:ENSG00000111046 xref: GENATLAS:MYF6 xref: HGNC:7566 xref: OMIM:159991 xref: REACTOME:P23409 xref: UNIPROTKB/SWISSPROT:P23409 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169189 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant centronuclear myopathy property_value: alternative:term "bHLHc4" xsd:string property_value: alternative:term "MRF4" xsd:string property_value: alternative:term "muscle-specific regulatory factor 4" xsd:string property_value: symbol "MYF6" xsd:string [Term] id: Orphanet:123606 name: myosin, heavy chain 11, smooth muscle xref: ENSEMBL:ENSG00000133392 xref: GENATLAS:MYH11 xref: HGNC:7569 xref: OMIM:160745 xref: REACTOME:P35749 xref: UNIPROTKB/SWISSPROT:P35749 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:229 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial aortic dissection relationship: Orphanet:317343 Orphanet:91387 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial thoracic aortic aneurysm and aortic dissection relationship: Orphanet:317348 Orphanet:98829 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) property_value: alternative:term "myosin, heavy polypeptide 11, smooth muscle" xsd:string property_value: alternative:term "SMHC" xsd:string property_value: alternative:term "SMMHC" xsd:string property_value: symbol "MYH11" xsd:string [Term] id: Orphanet:123610 name: myosin, heavy chain 14, non-muscle xref: ENSEMBL:ENSG00000105357 xref: GENATLAS:MYH14 xref: HGNC:23212 xref: OMIM:608568 xref: REACTOME:Q7Z406 xref: UNIPROTKB/SWISSPROT:Q7Z406 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA property_value: alternative:term "DFNA4" xsd:string property_value: alternative:term "FLJ13881" xsd:string property_value: alternative:term "KIAA2034" xsd:string property_value: alternative:term "MHC16" xsd:string property_value: alternative:term "MYH17" xsd:string property_value: alternative:term "Myosin, heavy chain 14" xsd:string property_value: alternative:term "myosin, heavy polypeptide 14" xsd:string property_value: symbol "MYH14" xsd:string [Term] id: Orphanet:123615 name: myosin, heavy chain 2, skeletal muscle, adult xref: ENSEMBL:ENSG00000125414 xref: GENATLAS:MYH2 xref: HGNC:7572 xref: OMIM:160740 xref: REACTOME:Q9UKX2 xref: UNIPROTKB/SWISSPROT:Q9UKX2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363677 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Childhood-onset autosomal recessive myopathy with external ophthalmoplegia relationship: Orphanet:317343 Orphanet:79091 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia property_value: alternative:term "MYH2A" xsd:string property_value: alternative:term "MYHas8" xsd:string property_value: alternative:term "MyHC-2A" xsd:string property_value: alternative:term "MyHC-IIa" xsd:string property_value: alternative:term "MYHSA2" xsd:string property_value: alternative:term "myosin, heavy polypeptide 2, skeletal muscle, adult" xsd:string property_value: symbol "MYH2" xsd:string [Term] id: Orphanet:123617 name: myosin, heavy chain 3, skeletal muscle, embryonic xref: ENSEMBL:ENSG00000109063 xref: GENATLAS:MYH3 xref: HGNC:7573 xref: OMIM:160720 xref: REACTOME:P11055 xref: UNIPROTKB/SWISSPROT:P11055 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Digitotalar dysmorphism relationship: Orphanet:317343 Orphanet:1147 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sheldon-Hall syndrome relationship: Orphanet:317343 Orphanet:2053 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Freeman-Sheldon syndrome property_value: alternative:term "HEMHC" xsd:string property_value: alternative:term "muscle embryonic myosin heavy chain 3" xsd:string property_value: alternative:term "MYHC-EMB" xsd:string property_value: alternative:term "MYHSE1" xsd:string property_value: alternative:term "myosin, heavy polypeptide 3, skeletal muscle, embryonic" xsd:string property_value: alternative:term "myosin, skeletal, heavy chain, embryonic 1" xsd:string property_value: alternative:term "SMHCE" xsd:string property_value: symbol "MYH3" xsd:string [Term] id: Orphanet:123619 name: myosin, heavy chain 6, cardiac muscle, alpha xref: ENSEMBL:ENSG00000197616 xref: GENATLAS:MYH6 xref: HGNC:7576 xref: OMIM:160710 xref: REACTOME:P13533 xref: UNIPROTKB/SWISSPROT:P13533 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99103 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atrial septal defect, ostium secundum type relationship: Orphanet:317345 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317345 Orphanet:166282 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial sick sinus syndrome property_value: alternative:term "cardiomyopathy, hypertrophic 1" xsd:string property_value: alternative:term "Myosin, heavy chain 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)" xsd:string property_value: alternative:term "myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)" xsd:string property_value: symbol "MYH6" xsd:string [Term] id: Orphanet:123621 name: myosin, heavy chain 7, cardiac muscle, beta xref: ENSEMBL:ENSG00000092054 xref: GENATLAS:MYH7 xref: HGNC:7577 xref: OMIM:160760 xref: REACTOME:P12883 xref: UNIPROTKB/SWISSPROT:P12883 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317343 Orphanet:1880 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ebstein malformation relationship: Orphanet:317343 Orphanet:324604 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Classic multiminicore myopathy relationship: Orphanet:317343 Orphanet:53698 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyaline body myopathy relationship: Orphanet:317343 Orphanet:59135 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Laing distal myopathy relationship: Orphanet:317343 Orphanet:85146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Scapuloperoneal amyotrophy relationship: Orphanet:317345 Orphanet:54260 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Left ventricular noncompaction property_value: alternative:term "CMD1S" xsd:string property_value: alternative:term "CMH1" xsd:string property_value: alternative:term "MPD1" xsd:string property_value: alternative:term "myopathy, distal 1" xsd:string property_value: alternative:term "myosin, heavy polypeptide 7, cardiac muscle, beta" xsd:string property_value: symbol "MYH7" xsd:string [Term] id: Orphanet:123626 name: myosin, heavy chain 8, skeletal muscle, perinatal xref: ENSEMBL:ENSG00000133020 xref: GENATLAS:MYH8 xref: HGNC:7578 xref: OMIM:160741 xref: REACTOME:P13535 xref: UNIPROTKB/SWISSPROT:P13535 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319340 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Carney complex-trismus-pseudocamptodactyly syndrome relationship: Orphanet:317343 Orphanet:3377 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Trismus - pseudocamptodactyly property_value: alternative:term "MyHC-peri" xsd:string property_value: alternative:term "MyHC-pn" xsd:string property_value: alternative:term "myosin, heavy polypeptide 8, skeletal muscle, perinatal" xsd:string property_value: symbol "MYH8" xsd:string [Term] id: Orphanet:123628 name: myosin, heavy chain 9, non-muscle xref: ENSEMBL:ENSG00000100345 xref: GENATLAS:MYH9 xref: HGNC:7579 xref: OMIM:160775 xref: REACTOME:P35579 xref: UNIPROTKB/SWISSPROT:P35579 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA property_value: alternative:term "DFNA17" xsd:string property_value: alternative:term "EPSTS" xsd:string property_value: alternative:term "FTNS" xsd:string property_value: alternative:term "MHA" xsd:string property_value: alternative:term "myosin, heavy polypeptide 9, non-muscle" xsd:string property_value: alternative:term "NMHC-II-A" xsd:string property_value: alternative:term "NMMHCA" xsd:string property_value: alternative:term "nonmuscle myosin heavy chain II-A" xsd:string property_value: symbol "MYH9" xsd:string [Term] id: Orphanet:123631 name: myosin, light chain 2, regulatory, cardiac, slow xref: ENSEMBL:ENSG00000111245 xref: GENATLAS:MYL2 xref: HGNC:7583 xref: OMIM:160781 xref: REACTOME:P10916 xref: UNIPROTKB/SWISSPROT:P10916 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2020 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital fiber-type disproportion myopathy property_value: alternative:term "cardiac ventricular myosin light chain 2" xsd:string property_value: alternative:term "CMH10" xsd:string property_value: alternative:term "myosin, light polypeptide 2, regulatory, cardiac, slow" xsd:string property_value: symbol "MYL2" xsd:string [Term] id: Orphanet:123641 name: myosin XVA xref: ENSEMBL:ENSG00000091536 xref: GENATLAS:MYO15A xref: HGNC:7594 xref: OMIM:602666 xref: UNIPROTKB/SWISSPROT:Q9UKN7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "DFNB3" xsd:string property_value: alternative:term "MYO15" xsd:string property_value: symbol "MYO15A" xsd:string [Term] id: Orphanet:123645 name: myosin VA (heavy chain 12, myoxin) xref: ENSEMBL:ENSG00000197535 xref: GENATLAS:MYO5A xref: HGNC:7602 xref: OMIM:160777 xref: REACTOME:Q9Y4I1 xref: UNIPROTKB/SWISSPROT:Q9Y4I1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:33445 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neuroectodermal melanolysosomal disease relationship: Orphanet:317343 Orphanet:79476 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Griscelli disease type 1 relationship: Orphanet:317343 Orphanet:79478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Griscelli disease type 3 property_value: alternative:term "GS1" xsd:string property_value: alternative:term "MYH12" xsd:string property_value: alternative:term "MYO5" xsd:string property_value: alternative:term "myosin heavy chain 12" xsd:string property_value: alternative:term "myosin V" xsd:string property_value: alternative:term "myosin VA (heavy polypeptide 12, myoxin)" xsd:string property_value: alternative:term "myosin, heavy polypeptide kinase" xsd:string property_value: alternative:term "myoxin" xsd:string property_value: alternative:term "MYR12" xsd:string property_value: symbol "MYO5A" xsd:string [Term] id: Orphanet:123648 name: myosin VI xref: ENSEMBL:ENSG00000196586 xref: GENATLAS:MYO6 xref: HGNC:7605 xref: OMIM:600970 xref: REACTOME:Q9UM54 xref: UNIPROTKB/SWISSPROT:Q9UM54 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:228012 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive sensorineural hearing loss - hypertrophic cardiomyopathy relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "deafness, autosomal recessive 37" xsd:string property_value: alternative:term "DFNA22" xsd:string property_value: alternative:term "DFNB37" xsd:string property_value: alternative:term "KIAA0389" xsd:string property_value: symbol "MYO6" xsd:string [Term] id: Orphanet:123653 name: myosin VIIA xref: ENSEMBL:ENSG00000137474 xref: GENATLAS:MYO7A xref: HGNC:7606 xref: OMIM:276903 xref: UNIPROTKB/SWISSPROT:Q13402 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231169 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Usher syndrome type 1 relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "DFNA11" xsd:string property_value: alternative:term "DFNB2" xsd:string property_value: alternative:term "myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))" xsd:string property_value: alternative:term "NSRD2" xsd:string property_value: alternative:term "USH1B" xsd:string property_value: symbol "MYO7A" xsd:string [Term] id: Orphanet:123659 name: myocilin, trabecular meshwork inducible glucocorticoid response xref: ENSEMBL:ENSG00000034971 xref: GENATLAS:MYOC xref: HGNC:7610 xref: OMIM:601652 xref: UNIPROTKB/SWISSPROT:Q99972 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98976 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital glaucoma relationship: Orphanet:317343 Orphanet:98977 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juvenile glaucoma property_value: alternative:term "GLC1A" xsd:string property_value: alternative:term "JOAG1" xsd:string property_value: alternative:term "TIGR" xsd:string property_value: symbol "MYOC" xsd:string [Term] id: Orphanet:123664 name: myotilin xref: ENSEMBL:ENSG00000120729 xref: GENATLAS:MYOT xref: HGNC:12399 xref: OMIM:604103 xref: UNIPROTKB/SWISSPROT:Q9UBF9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:266 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant limb-girdle muscular dystrophy type 1A relationship: Orphanet:317343 Orphanet:268129 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spheroid body myopathy relationship: Orphanet:317343 Orphanet:98911 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myotilin-related myofibrillar myopathy without spheroid body property_value: alternative:term "LGMD1" xsd:string property_value: alternative:term "LGMD1A" xsd:string property_value: alternative:term "limb-girdle muscular dystrophy 1A (autosomal dominant)" xsd:string property_value: alternative:term "titin immunoglobulin domain protein (myotilin)" xsd:string property_value: alternative:term "TTID" xsd:string property_value: symbol "MYOT" xsd:string [Term] id: Orphanet:123669 name: N-acetylgalactosaminidase, alpha- xref: ENSEMBL:ENSG00000198951 xref: GENATLAS:NAGA xref: HGNC:7631 xref: OMIM:104170 xref: UNIPROTKB/SWISSPROT:P17050 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79279 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alpha-N-acetylgalactosaminidase deficiency type 1 relationship: Orphanet:317343 Orphanet:79280 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alpha-N-acetylgalactosaminidase deficiency type 2 relationship: Orphanet:317343 Orphanet:79281 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alpha-N-acetylgalactosaminidase deficiency type 3 property_value: alternative:term "D22S674" xsd:string property_value: symbol "NAGA" xsd:string [Term] id: Orphanet:123672 name: N-acetylglucosaminidase, alpha xref: ENSEMBL:ENSG00000108784 xref: GENATLAS:NAGLU xref: HGNC:7632 xref: OMIM:609701 xref: REACTOME:P54802 xref: UNIPROTKB/SWISSPROT:P54802 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79270 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sanfilippo syndrome type B property_value: alternative:term "N-acetylglucosaminidase, alpha- (Sanfilippo disease IIIB)" xsd:string property_value: alternative:term "NAG" xsd:string property_value: alternative:term "Sanfilippo disease IIIB" xsd:string property_value: symbol "NAGLU" xsd:string [Term] id: Orphanet:123675 name: N-acetylglutamate synthase xref: ENSEMBL:ENSG00000161653 xref: GENATLAS:NAGS xref: HGNC:17996 xref: OMIM:608300 xref: REACTOME:Q8N159 xref: UNIPROTKB/SWISSPROT:Q8N159 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:927 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperammonemia due to N-acetylglutamate synthetase deficiency property_value: alternative:term "AGAS" xsd:string property_value: alternative:term "ARGA" xsd:string property_value: alternative:term "NAT7" xsd:string property_value: symbol "NAGS" xsd:string [Term] id: Orphanet:123680 name: NLR family, apoptosis inhibitory protein xref: ENSEMBL:ENSG00000249437 xref: GENATLAS:NAIP xref: HGNC:7634 xref: OMIM:600355 xref: UNIPROTKB/SWISSPROT:Q13075 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:83330 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Proximal spinal muscular atrophy type 1 relationship: Orphanet:317343 Orphanet:83418 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Proximal spinal muscular atrophy type 2 relationship: Orphanet:317343 Orphanet:83419 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Proximal spinal muscular atrophy type 3 property_value: alternative:term "baculoviral IAP repeat-containing 1" xsd:string property_value: alternative:term "BIRC1" xsd:string property_value: alternative:term "NLR family, BIR domain containing 1" xsd:string property_value: alternative:term "NLRB1" xsd:string property_value: alternative:term "nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1" xsd:string property_value: symbol "NAIP" xsd:string [Term] id: Orphanet:123688 name: nibrin xref: ENSEMBL:ENSG00000104320 xref: GENATLAS:NBN xref: HGNC:7652 xref: OMIM:602667 xref: REACTOME:O60934 xref: UNIPROTKB/SWISSPROT:O60934 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:145 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary breast and ovarian cancer syndrome relationship: Orphanet:317343 Orphanet:647 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nijmegen breakage syndrome relationship: Orphanet:317345 Orphanet:1331 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial prostate cancer property_value: alternative:term "AT-V1" xsd:string property_value: alternative:term "AT-V2" xsd:string property_value: alternative:term "ATV" xsd:string property_value: alternative:term "NBS" xsd:string property_value: alternative:term "NBS1" xsd:string property_value: alternative:term "Nijmegen breakage syndrome 1 (nibrin)" xsd:string property_value: symbol "NBN" xsd:string [Term] id: Orphanet:123695 name: neutrophil cytosolic factor 1 xref: ENSEMBL:ENSG00000158517 xref: GENATLAS:NCF1 xref: HGNC:7660 xref: OMIM:608512 xref: REACTOME:P14598 xref: UNIPROTKB/SWISSPROT:P14598 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:379 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chronic granulomatous disease property_value: alternative:term "chronic granulomatous disease, autosomal 1" xsd:string property_value: alternative:term "NADPH oxidase organizer 2" xsd:string property_value: alternative:term "NCF1A" xsd:string property_value: alternative:term "neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)" xsd:string property_value: alternative:term "Neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1)" xsd:string property_value: alternative:term "NOXO2" xsd:string property_value: alternative:term "p47phox" xsd:string property_value: alternative:term "SH3PXD1A" xsd:string property_value: symbol "NCF1" xsd:string [Term] id: Orphanet:1237 name: Beemer-Ertbruggen syndrome xref: ICD10:Q87.8 xref: MESH:C537668 xref: OMIM:209970 xref: UMLS:C1859526 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Hydrocephalus - cardiac malformation - dense bones" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents and is characterized by hydrocephalus, cardiac malformation, dense bones, unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. No new articles since 1984" xsd:string [Term] id: Orphanet:123701 name: neutrophil cytosolic factor 2 xref: ENSEMBL:ENSG00000116701 xref: GENATLAS:NCF2 xref: HGNC:7661 xref: OMIM:608515 xref: REACTOME:P19878 xref: UNIPROTKB/SWISSPROT:P19878 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:379 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chronic granulomatous disease property_value: alternative:term "chronic granulomatous disease, autosomal 2" xsd:string property_value: alternative:term "NADPH oxidase activator 2" xsd:string property_value: alternative:term "neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)" xsd:string property_value: alternative:term "Neutrophil cytosolic factor 2 (65kDa, chronic granulomatous disease, autosomal 2)" xsd:string property_value: alternative:term "NOXA2" xsd:string property_value: alternative:term "p67phox" xsd:string property_value: symbol "NCF2" xsd:string [Term] id: Orphanet:123710 name: necdin, melanoma antigen (MAGE) family member xref: ENSEMBL:ENSG00000182636 xref: GENATLAS:NDN xref: HGNC:7675 xref: OMIM:602117 xref: UNIPROTKB/SWISSPROT:Q99608 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:177910 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Prader-Willi syndrome due to imprinting mutation relationship: Orphanet:317349 Orphanet:177901 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 relationship: Orphanet:317349 Orphanet:177904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 relationship: Orphanet:317349 Orphanet:98754 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 property_value: alternative:term "HsT16328" xsd:string property_value: alternative:term "necdin (mouse) homolog" xsd:string property_value: alternative:term "Necdin homolog (mouse)" xsd:string property_value: alternative:term "Prader-Willi syndrome chromosome region" xsd:string property_value: alternative:term "PWCR" xsd:string property_value: symbol "NDN" xsd:string [Term] id: Orphanet:123713 name: Norrie disease (pseudoglioma) xref: ENSEMBL:ENSG00000124479 xref: GENATLAS:NDP xref: HGNC:7678 xref: OMIM:300658 xref: UNIPROTKB/SWISSPROT:Q00604 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:649 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Norrie disease relationship: Orphanet:317343 Orphanet:891 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial exudative vitreoretinopathy relationship: Orphanet:317343 Orphanet:91495 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Persistent hyperplastic primary vitreous relationship: Orphanet:317345 Orphanet:90050 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Retinopathy of prematurity relationship: Orphanet:327767 Orphanet:190 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Coats disease property_value: alternative:term "EVR2" xsd:string property_value: alternative:term "exudative vitreoretinopathy 2 (X-linked)" xsd:string property_value: alternative:term "norrin" xsd:string property_value: symbol "NDP" xsd:string [Term] id: Orphanet:123716 name: N-myc downstream regulated 1 xref: ENSEMBL:ENSG00000104419 xref: GENATLAS:NDRG1 xref: HGNC:7679 xref: OMIM:605262 xref: UNIPROTKB/SWISSPROT:Q92597 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99950 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Charcot-Marie-Tooth disease type 4D property_value: alternative:term "CAP43" xsd:string property_value: alternative:term "DRG1" xsd:string property_value: alternative:term "N-myc downstream regulated gene 1" xsd:string property_value: alternative:term "NDR1" xsd:string property_value: alternative:term "RTP" xsd:string property_value: alternative:term "TDD5" xsd:string property_value: symbol "NDRG1" xsd:string [Term] id: Orphanet:123723 name: NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 xref: ENSEMBL:ENSG00000164182 xref: GENATLAS:NDUFAF2 xref: HGNC:28086 xref: OMIM:609653 xref: UNIPROTKB/SWISSPROT:Q8N183 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency property_value: alternative:term "B17.2L" xsd:string property_value: alternative:term "mimitin" xsd:string property_value: alternative:term "MMTN" xsd:string property_value: alternative:term "Myc-induced mitochondrial protein" xsd:string property_value: alternative:term "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2" xsd:string property_value: alternative:term "NDUFA12-like" xsd:string property_value: alternative:term "NDUFA12L" xsd:string property_value: symbol "NDUFAF2" xsd:string [Term] id: Orphanet:123727 name: NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) xref: ENSEMBL:ENSG00000023228 xref: GENATLAS:NDUFS1 xref: HGNC:7707 xref: OMIM:157655 xref: REACTOME:P28331 xref: UNIPROTKB/SWISSPROT:P28331 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:255241 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with leukodystrophy relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency property_value: alternative:term "CI-75k" xsd:string property_value: alternative:term "complex I 75kDa subunit" xsd:string property_value: alternative:term "NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)" xsd:string property_value: alternative:term "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial" xsd:string property_value: symbol "NDUFS1" xsd:string [Term] id: Orphanet:123729 name: NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) xref: ENSEMBL:ENSG00000158864 xref: GENATLAS:NDUFS2 xref: HGNC:7708 xref: OMIM:602985 xref: REACTOME:O75306 xref: UNIPROTKB/SWISSPROT:O75306 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency property_value: alternative:term "CI-49" xsd:string property_value: alternative:term "complex I 49kDa subunit" xsd:string property_value: alternative:term "NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)" xsd:string property_value: alternative:term "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial" xsd:string property_value: symbol "NDUFS2" xsd:string [Term] id: Orphanet:123731 name: NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) xref: ENSEMBL:ENSG00000213619 xref: GENATLAS:NDUFS3 xref: HGNC:7710 xref: OMIM:603846 xref: REACTOME:O75489 xref: UNIPROTKB/SWISSPROT:O75489 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:255241 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with leukodystrophy relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency property_value: alternative:term "CI-30" xsd:string property_value: alternative:term "complex I 30kDa subunit" xsd:string property_value: alternative:term "NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)" xsd:string property_value: alternative:term "NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial" xsd:string property_value: symbol "NDUFS3" xsd:string [Term] id: Orphanet:123733 name: NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) xref: ENSEMBL:ENSG00000164258 xref: GENATLAS:NDUFS4 xref: HGNC:7711 xref: OMIM:602694 xref: REACTOME:O43181 xref: UNIPROTKB/SWISSPROT:O43181 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:255241 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with leukodystrophy relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency property_value: alternative:term "AQDQ" xsd:string property_value: alternative:term "CI-18" xsd:string property_value: alternative:term "complex I 18kDa subunit" xsd:string property_value: alternative:term "NADH dehydrogenase (ubiquinone) Fe-S protein 4 (18kD) (NADH-coenzyme Q reductase)" xsd:string property_value: symbol "NDUFS4" xsd:string [Term] id: Orphanet:123736 name: NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) xref: ENSEMBL:ENSG00000145494 xref: GENATLAS:NDUFS6 xref: HGNC:7713 xref: OMIM:603848 xref: REACTOME:O75380 xref: UNIPROTKB/SWISSPROT:O75380 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency property_value: alternative:term "CI-13kA" xsd:string property_value: alternative:term "complex I 13kDa subunit A" xsd:string property_value: alternative:term "NADH dehydrogenase (ubiquinone) Fe-S protein 6 (13kD) (NADH-coenzyme Q reductase)" xsd:string property_value: alternative:term "NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial" xsd:string property_value: symbol "NDUFS6" xsd:string [Term] id: Orphanet:123738 name: NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) xref: ENSEMBL:ENSG00000115286 xref: GENATLAS:NDUFS7 xref: HGNC:7714 xref: OMIM:601825 xref: REACTOME:O75251 xref: UNIPROTKB/SWISSPROT:O75251 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:255241 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with leukodystrophy relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency property_value: alternative:term "CI-20" xsd:string property_value: alternative:term "complex I 20kDa subunit" xsd:string property_value: alternative:term "FLJ45860" xsd:string property_value: alternative:term "FLJ46880" xsd:string property_value: alternative:term "NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (NADH-coenzyme Q reductase)" xsd:string property_value: alternative:term "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial" xsd:string property_value: alternative:term "PSST" xsd:string property_value: symbol "NDUFS7" xsd:string [Term] id: Orphanet:123743 name: NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) xref: ENSEMBL:ENSG00000110717 xref: GENATLAS:NDUFS8 xref: HGNC:7715 xref: OMIM:602141 xref: REACTOME:O00217 xref: UNIPROTKB/SWISSPROT:O00217 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:255241 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with leukodystrophy relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency property_value: alternative:term "CI-23k" xsd:string property_value: alternative:term "complex I 23kDa subunit" xsd:string property_value: alternative:term "NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme Q reductase)" xsd:string property_value: alternative:term "NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial" xsd:string property_value: alternative:term "TYKY" xsd:string property_value: symbol "NDUFS8" xsd:string [Term] id: Orphanet:123745 name: NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa xref: ENSEMBL:ENSG00000167792 xref: GENATLAS:NDUFV1 xref: HGNC:7716 xref: OMIM:161015 xref: REACTOME:P49821 xref: UNIPROTKB/SWISSPROT:P49821 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:255241 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with leukodystrophy relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency property_value: alternative:term "CI-51K" xsd:string property_value: alternative:term "complex I 51kDa subunit" xsd:string property_value: alternative:term "NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)" xsd:string property_value: alternative:term "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial" xsd:string property_value: symbol "NDUFV1" xsd:string [Term] id: Orphanet:123747 name: NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa xref: ENSEMBL:ENSG00000178127 xref: GENATLAS:NDUFV2 xref: HGNC:7717 xref: OMIM:600532 xref: REACTOME:P19404 xref: UNIPROTKB/SWISSPROT:P19404 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency property_value: alternative:term "CI-24k" xsd:string property_value: alternative:term "complex I 24kDa subunit" xsd:string property_value: alternative:term "NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)" xsd:string property_value: alternative:term "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial" xsd:string property_value: symbol "NDUFV2" xsd:string [Term] id: Orphanet:123749 name: nebulin xref: ENSEMBL:ENSG00000183091 xref: GENATLAS:NEB xref: HGNC:7720 xref: OMIM:161650 xref: REACTOME:P20929 xref: UNIPROTKB/SWISSPROT:P20929 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171430 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe congenital nemaline myopathy relationship: Orphanet:317343 Orphanet:171433 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intermediate nemaline myopathy relationship: Orphanet:317343 Orphanet:171436 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Typical nemaline myopathy relationship: Orphanet:317343 Orphanet:171439 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Childhood-onset nemaline myopathy property_value: alternative:term "NEB177D" xsd:string property_value: alternative:term "NEM2" xsd:string property_value: alternative:term "nemaline myopathy type 2" xsd:string property_value: symbol "NEB" xsd:string [Term] id: Orphanet:123752 name: neurofilament, heavy polypeptide xref: ENSEMBL:ENSG00000100285 xref: GENATLAS:NEFH xref: HGNC:7737 xref: OMIM:162230 xref: UNIPROTKB/SWISSPROT:P12036 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis property_value: alternative:term "Neurofilament, heavy polypeptide 200kDa" xsd:string property_value: symbol "NEFH" xsd:string [Term] id: Orphanet:123754 name: neurofilament, light polypeptide xref: ENSEMBL:ENSG00000104725 xref: GENATLAS:NEFL xref: HGNC:7739 xref: OMIM:162280 xref: REACTOME:P07196 xref: UNIPROTKB/SWISSPROT:P07196 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101085 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Charcot-Marie-Tooth disease type 1F relationship: Orphanet:317343 Orphanet:228374 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe early-onset axonal neuropathy due to NEFL deficiency relationship: Orphanet:317343 Orphanet:99939 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Charcot-Marie-Tooth disease type 2E property_value: alternative:term "CMT1F" xsd:string property_value: alternative:term "CMT2E" xsd:string property_value: alternative:term "Neurofilament, light polypeptide 68kDa" xsd:string property_value: alternative:term "NF68" xsd:string property_value: alternative:term "NFL" xsd:string property_value: symbol "NEFL" xsd:string [Term] id: Orphanet:123757 name: NMDA receptor synaptonuclear signaling and neuronal migration factor xref: ENSEMBL:ENSG00000165802 xref: GENATLAS:NELF xref: HGNC:29843 xref: OMIM:608137 xref: UNIPROTKB/SWISSPROT:Q6X4W1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:432 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Normosmic congenital hypogonadotropic hypogonadism relationship: Orphanet:317343 Orphanet:478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kallmann syndrome property_value: alternative:term "Nasal embryonic LHRH factor" xsd:string property_value: alternative:term "NELF" xsd:string property_value: symbol "NSMF" xsd:string [Term] id: Orphanet:123759 name: sialidase 1 (lysosomal sialidase) xref: ENSEMBL:ENSG00000204386 xref: GENATLAS:NEU1 xref: HGNC:7758 xref: OMIM:608272 xref: REACTOME:Q99519 xref: UNIPROTKB/SWISSPROT:Q99519 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:812 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sialidosis type 1 relationship: Orphanet:317343 Orphanet:93399 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juvenile sialidosis type 2 relationship: Orphanet:317343 Orphanet:93400 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital sialidosis type 2 property_value: alternative:term "NEU" xsd:string property_value: symbol "NEU1" xsd:string [Term] id: Orphanet:123762 name: neuronal differentiation 1 xref: ENSEMBL:ENSG00000162992 xref: GENATLAS:NEUROD1 xref: HGNC:7762 xref: OMIM:601724 xref: REACTOME:Q13562 xref: UNIPROTKB/SWISSPROT:Q13562 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:552 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MODY syndrome property_value: alternative:term "beta-cell E-box transactivator 2" xsd:string property_value: alternative:term "BETA2" xsd:string property_value: alternative:term "BHF-1" xsd:string property_value: alternative:term "bHLHa3" xsd:string property_value: alternative:term "MODY6" xsd:string property_value: alternative:term "NEUROD" xsd:string property_value: alternative:term "Neurogenic differentiation 1" xsd:string property_value: alternative:term "neurogenic helix-loop-helix protein NEUROD" xsd:string property_value: symbol "NEUROD1" xsd:string [Term] id: Orphanet:123767 name: neurogenin 3 xref: ENSEMBL:ENSG00000122859 xref: GENATLAS:NEUROG3 xref: HGNC:13806 xref: OMIM:604882 xref: REACTOME:Q9Y4Z2 xref: UNIPROTKB/SWISSPROT:Q9Y4Z2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:83620 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells property_value: alternative:term "Atoh5" xsd:string property_value: alternative:term "bHLHa7" xsd:string property_value: alternative:term "Math4B" xsd:string property_value: alternative:term "ngn3" xsd:string property_value: symbol "NEUROG3" xsd:string [Term] id: Orphanet:123772 name: neurofibromin 1 xref: ENSEMBL:ENSG00000196712 xref: GENATLAS:NF1 xref: HGNC:7765 xref: OMIM:613113 xref: UNIPROTKB/SWISSPROT:P21359 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3444 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Watson syndrome relationship: Orphanet:317343 Orphanet:363700 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neurofibromatosis type 1 due to NF1mutation or intragenic deletion relationship: Orphanet:317343 Orphanet:648 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Noonan syndrome relationship: Orphanet:317344 Orphanet:86834 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Juvenile myelomonocytic leukemia relationship: Orphanet:317349 Orphanet:139474 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 17q11.2 microduplication syndrome relationship: Orphanet:317349 Orphanet:97685 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 17q11 microdeletion syndrome property_value: alternative:term "neurofibromatosis" xsd:string property_value: alternative:term "von Recklinghausen disease" xsd:string property_value: alternative:term "Watson disease" xsd:string property_value: symbol "NF1" xsd:string [Term] id: Orphanet:123774 name: neurofibromin 2 (merlin) xref: ENSEMBL:ENSG00000186575 xref: GENATLAS:NF2 xref: HGNC:7773 xref: OMIM:607379 xref: UNIPROTKB/SWISSPROT:P35240 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:637 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neurofibromatosis type 2 relationship: Orphanet:317347 Orphanet:93921 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Neurofibromatosis type 3 property_value: alternative:term "Merlin" xsd:string property_value: alternative:term "moesin-ezrin-radixin like" xsd:string property_value: alternative:term "Neurofibromin 2 (bilateral acoustic neuroma)" xsd:string property_value: alternative:term "schwannomin" xsd:string property_value: symbol "NF2" xsd:string [Term] id: Orphanet:123777 name: nerve growth factor (beta polypeptide) xref: ENSEMBL:ENSG00000134259 xref: GENATLAS:NGF xref: HGNC:7808 xref: OMIM:162030 xref: REACTOME:P01138 xref: UNIPROTKB/SWISSPROT:P01138 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:64752 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary sensory and autonomic neuropathy type 5 property_value: alternative:term "Nerve growth factor, beta polypeptide" xsd:string property_value: alternative:term "NGFB" xsd:string property_value: symbol "NGF" xsd:string [Term] id: Orphanet:123779 name: NHL repeat containing E3 ubiquitin protein ligase 1 xref: ENSEMBL:ENSG00000187566 xref: GENATLAS:NHLRC1 xref: HGNC:21576 xref: OMIM:608072 xref: REACTOME:Q6VVB1 xref: UNIPROTKB/SWISSPROT:Q6VVB1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:501 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lafora disease property_value: alternative:term "bA204B7.2" xsd:string property_value: alternative:term "epilepsy, progressive myoclonus type 2B" xsd:string property_value: alternative:term "EPM2B" xsd:string property_value: alternative:term "malin" xsd:string property_value: alternative:term "NHL repeat containing 1" xsd:string property_value: symbol "NHLRC1" xsd:string [Term] id: Orphanet:123783 name: Nance-Horan syndrome (congenital cataracts and dental anomalies) xref: ENSEMBL:ENSG00000188158 xref: GENATLAS:NHS xref: HGNC:7820 xref: OMIM:300457 xref: UNIPROTKB/SWISSPROT:Q6T4R5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:627 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nance-Horan syndrome relationship: Orphanet:317343 Orphanet:98991 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nuclear cataract relationship: Orphanet:317343 Orphanet:98994 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Total congenital cataract property_value: symbol "NHS" xsd:string [Term] id: Orphanet:123785 name: non imprinted in Prader-Willi/Angelman syndrome 1 xref: ENSEMBL:ENSG00000170113 xref: GENATLAS:NIPA1 xref: HGNC:17043 xref: OMIM:608145 xref: UNIPROTKB/SWISSPROT:Q7RTP0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100988 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant spastic paraplegia type 6 property_value: alternative:term "MGC35570" xsd:string property_value: alternative:term "spastic paraplegia 6 (autosomal dominant)" xsd:string property_value: alternative:term "SPG6" xsd:string property_value: symbol "NIPA1" xsd:string [Term] id: Orphanet:123789 name: Nipped-B homolog (Drosophila) xref: ENSEMBL:ENSG00000164190 xref: GENATLAS:NIPBL xref: HGNC:28862 xref: OMIM:608667 xref: REACTOME:Q6KC79 xref: UNIPROTKB/SWISSPROT:Q6KC79 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:199 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cornelia de Lange syndrome relationship: Orphanet:317349 Orphanet:329802 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 5p13 microduplication syndrome property_value: alternative:term "DKFZp434L1319" xsd:string property_value: alternative:term "FLJ11203" xsd:string property_value: alternative:term "FLJ12597" xsd:string property_value: alternative:term "FLJ13354" xsd:string property_value: alternative:term "FLJ13648" xsd:string property_value: alternative:term "IDN3" xsd:string property_value: alternative:term "Scc2" xsd:string property_value: alternative:term "sister chromatid cohesion 2 homolog (yeast)" xsd:string property_value: symbol "NIPBL" xsd:string [Term] id: Orphanet:123797 name: NK2 homeobox 5 xref: ENSEMBL:ENSG00000183072 xref: GENATLAS:NKX2-5 xref: HGNC:2488 xref: OMIM:600584 xref: UNIPROTKB/SWISSPROT:P52952 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101351 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated congenital asplenia relationship: Orphanet:317343 Orphanet:1479 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atrial septal defect - atrioventricular conduction defects relationship: Orphanet:317343 Orphanet:1480 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ventricular septal defect relationship: Orphanet:317343 Orphanet:2248 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypoplastic left heart syndrome relationship: Orphanet:317343 Orphanet:95713 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Athyreosis relationship: Orphanet:317343 Orphanet:95720 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thyroid hypoplasia relationship: Orphanet:317343 Orphanet:99103 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atrial septal defect, ostium secundum type relationship: Orphanet:317345 Orphanet:3303 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Tetralogy of Fallot relationship: Orphanet:317346 Orphanet:334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial atrial fibrillation relationship: Orphanet:317346 Orphanet:871 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial progressive cardiac conduction defect property_value: alternative:term "cardiac-specific homeo box" xsd:string property_value: alternative:term "CSX" xsd:string property_value: alternative:term "CSX1" xsd:string property_value: alternative:term "NK2 transcription factor related, locus 5 (Drosophila)" xsd:string property_value: alternative:term "NKX2.5" xsd:string property_value: alternative:term "NKX2E" xsd:string property_value: alternative:term "NKX4-1" xsd:string property_value: alternative:term "tinman paralog (Drosophila)" xsd:string property_value: symbol "NKX2-5" xsd:string [Term] id: Orphanet:123821 name: NLR family, pyrin domain containing 3 xref: ENSEMBL:ENSG00000162711 xref: GENATLAS:NLRP3 xref: HGNC:16400 xref: OMIM:606416 xref: REACTOME:Q96P20 xref: UNIPROTKB/SWISSPROT:Q96P20 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:47045 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial cold urticaria relationship: Orphanet:317343 Orphanet:575 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Muckle-Wells syndrome relationship: Orphanet:317343 Orphanet:93365 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CINCA syndrome with NLRP3 mutations property_value: alternative:term "AGTAVPRL" xsd:string property_value: alternative:term "AII" xsd:string property_value: alternative:term "AVP" xsd:string property_value: alternative:term "C1orf7" xsd:string property_value: alternative:term "CIAS1" xsd:string property_value: alternative:term "CLR1.1" xsd:string property_value: alternative:term "cold autoinflammatory syndrome 1" xsd:string property_value: alternative:term "Cryopyrin" xsd:string property_value: alternative:term "FCAS" xsd:string property_value: alternative:term "FCU" xsd:string property_value: alternative:term "MWS" xsd:string property_value: alternative:term "NALP3" xsd:string property_value: alternative:term "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3" xsd:string property_value: alternative:term "PYPAF1" xsd:string property_value: symbol "NLRP3" xsd:string [Term] id: Orphanet:123834 name: NLR family, pyrin domain containing 7 xref: ENSEMBL:ENSG00000167634 xref: GENATLAS:NLRP7 xref: HGNC:22947 xref: OMIM:609661 xref: UNIPROTKB/SWISSPROT:Q8WX94 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:254688 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Complete hydatidiform mole relationship: Orphanet:317343 Orphanet:254693 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Partial hydatidiform mole property_value: alternative:term "CLR19.4" xsd:string property_value: alternative:term "NACHT, leucine rich repeat and PYD containing 7" xsd:string property_value: alternative:term "NALP7" xsd:string property_value: alternative:term "NOD12" xsd:string property_value: alternative:term "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7" xsd:string property_value: alternative:term "PAN7" xsd:string property_value: alternative:term "PYPAF3" xsd:string property_value: symbol "NLRP7" xsd:string [Term] id: Orphanet:123845 name: nucleotide-binding oligomerization domain containing 2 xref: ENSEMBL:ENSG00000167207 xref: GENATLAS:NOD2 xref: HGNC:5331 xref: OMIM:605956 xref: REACTOME:Q9HC29 xref: UNIPROTKB/SWISSPROT:Q9HC29 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90340 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Blau syndrome relationship: Orphanet:317345 Orphanet:117 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Behçet disease property_value: alternative:term "BLAU" xsd:string property_value: alternative:term "CARD15" xsd:string property_value: alternative:term "caspase recruitment domain family, member 15" xsd:string property_value: alternative:term "CD" xsd:string property_value: alternative:term "CLR16.3" xsd:string property_value: alternative:term "IBD1" xsd:string property_value: alternative:term "NLR family, CARD domain containing 2" xsd:string property_value: alternative:term "NLRC2" xsd:string property_value: alternative:term "NOD-like receptor C2" xsd:string property_value: alternative:term "nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2" xsd:string property_value: alternative:term "PSORAS1" xsd:string property_value: symbol "NOD2" xsd:string [Term] id: Orphanet:123854 name: noggin xref: ENSEMBL:ENSG00000183691 xref: GENATLAS:NOG xref: HGNC:7866 xref: OMIM:602991 xref: REACTOME:Q13253 xref: UNIPROTKB/SWISSPROT:Q13253 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:140908 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brachydactyly type B2 relationship: Orphanet:317343 Orphanet:140917 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Stapes ankylosis with broad thumbs and toes relationship: Orphanet:317343 Orphanet:1412 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tarsal-carpal coalition syndrome relationship: Orphanet:317343 Orphanet:3237 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple synostoses syndrome relationship: Orphanet:317343 Orphanet:3250 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Proximal symphalangism property_value: alternative:term "SYM1" xsd:string property_value: alternative:term "symphalangism 1 (proximal)" xsd:string property_value: alternative:term "synostoses (multiple) syndrome 1" xsd:string property_value: alternative:term "SYNS1" xsd:string property_value: symbol "NOG" xsd:string [Term] id: Orphanet:123858 name: notch 2 xref: ENSEMBL:ENSG00000134250 xref: GENATLAS:NOTCH2 xref: HGNC:7882 xref: OMIM:600275 xref: REACTOME:Q04721 xref: UNIPROTKB/SWISSPROT:Q04721 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:261629 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alagille syndrome due to a NOTCH2 point mutation relationship: Orphanet:317343 Orphanet:955 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acroosteolysis, dominant type property_value: alternative:term "Notch (Drosophila) homolog 2" xsd:string property_value: alternative:term "Notch homolog 2 (Drosophila)" xsd:string property_value: symbol "NOTCH2" xsd:string [Term] id: Orphanet:123860 name: notch 3 xref: ENSEMBL:ENSG00000074181 xref: GENATLAS:NOTCH3 xref: HGNC:7883 xref: OMIM:600276 xref: REACTOME:Q9UM47 xref: UNIPROTKB/SWISSPROT:Q9UM47 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:136 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CADASIL relationship: Orphanet:317343 Orphanet:2591 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile myofibromatosis property_value: alternative:term "CADASIL" xsd:string property_value: alternative:term "CASIL" xsd:string property_value: alternative:term "Notch (Drosophila) homolog 3" xsd:string property_value: alternative:term "Notch homolog 3 (Drosophila)" xsd:string property_value: symbol "NOTCH3" xsd:string [Term] id: Orphanet:123864 name: purine nucleoside phosphorylase xref: ENSEMBL:ENSG00000198805 xref: GENATLAS:NP xref: HGNC:7892 xref: OMIM:164050 xref: REACTOME:P00491 xref: UNIPROTKB/SWISSPROT:P00491 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:760 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Purine nucleoside phosphorylase deficiency property_value: alternative:term "NP" xsd:string property_value: alternative:term "nucleoside phosphorylase" xsd:string property_value: alternative:term "PUNP" xsd:string property_value: symbol "PNP" xsd:string [Term] id: Orphanet:123868 name: Niemann-Pick disease, type C1 xref: ENSEMBL:ENSG00000141458 xref: GENATLAS:NPC1 xref: HGNC:7897 xref: OMIM:607623 xref: UNIPROTKB/SWISSPROT:O15118 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:216972 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Niemann-Pick disease type C, severe perinatal form relationship: Orphanet:317343 Orphanet:216975 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Niemann-Pick disease type C, severe early infantile neurologic onset relationship: Orphanet:317343 Orphanet:216978 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Niemann-Pick disease type C, late infantile neurologic onset relationship: Orphanet:317343 Orphanet:216981 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Niemann-Pick disease type C, juvenile neurologic onset relationship: Orphanet:317343 Orphanet:216986 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Niemann-Pick disease type C, adult neurologic onset property_value: symbol "NPC1" xsd:string [Term] id: Orphanet:123870 name: Niemann-Pick disease, type C2 xref: ENSEMBL:ENSG00000119655 xref: GENATLAS:NPC2 xref: HGNC:14537 xref: OMIM:601015 xref: UNIPROTKB/SWISSPROT:P61916 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:216972 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Niemann-Pick disease type C, severe perinatal form relationship: Orphanet:317343 Orphanet:216975 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Niemann-Pick disease type C, severe early infantile neurologic onset relationship: Orphanet:317343 Orphanet:216978 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Niemann-Pick disease type C, late infantile neurologic onset relationship: Orphanet:317343 Orphanet:216981 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Niemann-Pick disease type C, juvenile neurologic onset relationship: Orphanet:317343 Orphanet:216986 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Niemann-Pick disease type C, adult neurologic onset property_value: alternative:term "EDDM1" xsd:string property_value: alternative:term "epididymal protein 1" xsd:string property_value: alternative:term "HE1" xsd:string property_value: alternative:term "NP-C2" xsd:string property_value: symbol "NPC2" xsd:string [Term] id: Orphanet:123874 name: nephronophthisis 1 (juvenile) xref: ENSEMBL:ENSG00000144061 xref: GENATLAS:NPHP1 xref: HGNC:7905 xref: OMIM:607100 xref: UNIPROTKB/SWISSPROT:O15259 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220497 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with renal defect relationship: Orphanet:317343 Orphanet:3156 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Senior-Loken syndrome relationship: Orphanet:317343 Orphanet:93592 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juvenile autosomal recessive medullary cystic kidney disease property_value: alternative:term "JBTS4" xsd:string property_value: alternative:term "nephrocystin-1" xsd:string property_value: alternative:term "NPH1" xsd:string property_value: symbol "NPHP1" xsd:string [Term] id: Orphanet:123878 name: nephronophthisis 3 (adolescent) xref: ENSEMBL:ENSG00000113971 xref: GENATLAS:NPHP3 xref: HGNC:7907 xref: OMIM:608002 xref: UNIPROTKB/SWISSPROT:Q7Z494 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:294415 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Renal-hepatic-pancreatic dysplasia relationship: Orphanet:317343 Orphanet:3032 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! NPHP3-related Meckel-like syndrome relationship: Orphanet:317343 Orphanet:3156 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Senior-Loken syndrome relationship: Orphanet:317343 Orphanet:93589 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Late-onset autosomal recessive medullary cystic kidney disease property_value: alternative:term "FLJ30691" xsd:string property_value: alternative:term "FLJ36696" xsd:string property_value: alternative:term "KIAA2000" xsd:string property_value: alternative:term "Meckel syndrome, type 7" xsd:string property_value: alternative:term "MKS7" xsd:string property_value: alternative:term "nephrocystin-3" xsd:string property_value: alternative:term "NPH3" xsd:string property_value: symbol "NPHP3" xsd:string [Term] id: Orphanet:123884 name: nephronophthisis 4 xref: ENSEMBL:ENSG00000131697 xref: GENATLAS:NPHP4 xref: HGNC:19104 xref: OMIM:607215 xref: REACTOME:O75161 xref: UNIPROTKB/SWISSPROT:O75161 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3156 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Senior-Loken syndrome relationship: Orphanet:317343 Orphanet:93592 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juvenile autosomal recessive medullary cystic kidney disease property_value: alternative:term "KIAA0673" xsd:string property_value: alternative:term "nephrocystin-4" xsd:string property_value: alternative:term "nephroretinin" xsd:string property_value: alternative:term "POC10" xsd:string property_value: alternative:term "POC10 centriolar protein homolog (Chlamydomonas)" xsd:string property_value: alternative:term "SLSN4" xsd:string property_value: symbol "NPHP4" xsd:string [Term] id: Orphanet:123889 name: nephrosis 1, congenital, Finnish type (nephrin) xref: ENSEMBL:ENSG00000161270 xref: GENATLAS:NPHS1 xref: HGNC:7908 xref: OMIM:602716 xref: REACTOME:O60500 xref: UNIPROTKB/SWISSPROT:O60500 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:839 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital nephrotic syndrome, Finnish type relationship: Orphanet:317343 Orphanet:93213 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis relationship: Orphanet:317343 Orphanet:93214 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation relationship: Orphanet:317343 Orphanet:93216 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes property_value: alternative:term "CNF" xsd:string property_value: alternative:term "NPHN" xsd:string property_value: symbol "NPHS1" xsd:string [Term] id: Orphanet:123893 name: nephrosis 2, idiopathic, steroid-resistant (podocin) xref: ENSEMBL:ENSG00000116218 xref: GENATLAS:NPHS2 xref: HGNC:13394 xref: OMIM:604766 xref: REACTOME:Q9NP85 xref: UNIPROTKB/SWISSPROT:Q9NP85 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93213 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis relationship: Orphanet:317343 Orphanet:93216 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes relationship: Orphanet:317343 Orphanet:93218 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis relationship: Orphanet:317343 Orphanet:93221 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes property_value: alternative:term "PDCN" xsd:string property_value: alternative:term "SRN1" xsd:string property_value: symbol "NPHS2" xsd:string [Term] id: Orphanet:123897 name: natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) xref: ENSEMBL:ENSG00000159899 xref: GENATLAS:NPR2 xref: HGNC:7944 xref: OMIM:108961 xref: UNIPROTKB/SWISSPROT:P20594 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:329191 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tall stature - scoliosis - macrodactyly of the great toes relationship: Orphanet:317343 Orphanet:40 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acromesomelic dysplasia, Maroteaux type property_value: alternative:term "acromesomelic dysplasia, Maroteaux type" xsd:string property_value: alternative:term "AMDM" xsd:string property_value: alternative:term "ANPb" xsd:string property_value: alternative:term "ANPRB" xsd:string property_value: alternative:term "GUCY2B" xsd:string property_value: alternative:term "NPRB" xsd:string property_value: symbol "NPR2" xsd:string [Term] id: Orphanet:1239 name: Behr syndrome xref: ICD10:G98 xref: MESH:C537669 xref: OMIM:210000 xref: UMLS:C0221061 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98677 ! Autosomal recessive syndromic optic atrophy [Term] id: Orphanet:123902 name: nuclear receptor subfamily 0, group B, member 1 xref: ENSEMBL:ENSG00000169297 xref: GENATLAS:NR0B1 xref: HGNC:7960 xref: IUPHAR:635 xref: OMIM:300473 xref: REACTOME:P51843 xref: UNIPROTKB/SWISSPROT:P51843 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:242 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XY complete gonadal dysgenesis relationship: Orphanet:317343 Orphanet:251510 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XY partial gonadal dysgenesis relationship: Orphanet:317343 Orphanet:95702 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cytomegalic congenital adrenal hypoplasia property_value: alternative:term "AHC" xsd:string property_value: alternative:term "AHCH" xsd:string property_value: alternative:term "DAX1" xsd:string property_value: alternative:term "dosage-sensitive sex reversal" xsd:string property_value: alternative:term "DSS" xsd:string property_value: symbol "NR0B1" xsd:string [Term] id: Orphanet:123912 name: nuclear receptor subfamily 2, group E, member 3 xref: ENSEMBL:ENSG00000031544 xref: GENATLAS:NR2E3 xref: HGNC:7974 xref: IUPHAR:616 xref: OMIM:604485 xref: REACTOME:Q9Y5X4 xref: UNIPROTKB/SWISSPROT:Q9Y5X4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:53540 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Goldmann-Favre syndrome relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "PNR" xsd:string property_value: alternative:term "rd7" xsd:string property_value: alternative:term "RP37" xsd:string property_value: symbol "NR2E3" xsd:string [Term] id: Orphanet:123916 name: nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) xref: ENSEMBL:ENSG00000113580 xref: GENATLAS:NR3C1 xref: HGNC:7978 xref: IUPHAR:625 xref: OMIM:138040 xref: REACTOME:P04150 xref: UNIPROTKB/SWISSPROT:P04150 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:786 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glucocorticoid resistance property_value: alternative:term "GR" xsd:string property_value: alternative:term "GRL" xsd:string property_value: alternative:term "nuclear receptor subfamily 3, group C, member 1" xsd:string property_value: symbol "NR3C1" xsd:string [Term] id: Orphanet:123920 name: nuclear receptor subfamily 3, group C, member 2 xref: ENSEMBL:ENSG00000151623 xref: GENATLAS:NR3C2 xref: HGNC:7979 xref: IUPHAR:626 xref: OMIM:600983 xref: REACTOME:P08235 xref: UNIPROTKB/SWISSPROT:P08235 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171871 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Renal pseudohypoaldosteronism type 1 relationship: Orphanet:317343 Orphanet:88660 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pseudohyperaldosteronism type 2 property_value: alternative:term "MLR" xsd:string property_value: alternative:term "MR" xsd:string property_value: symbol "NR3C2" xsd:string [Term] id: Orphanet:123930 name: neural retina leucine zipper xref: ENSEMBL:ENSG00000129535 xref: GENATLAS:NRL xref: HGNC:8002 xref: OMIM:162080 xref: UNIPROTKB/SWISSPROT:P54845 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "D14S46E" xsd:string property_value: alternative:term "NRL-MAF" xsd:string property_value: alternative:term "RP27" xsd:string property_value: symbol "NRL" xsd:string [Term] id: Orphanet:123934 name: neurturin xref: ENSEMBL:ENSG00000171119 xref: GENATLAS:NRTN xref: HGNC:8007 xref: OMIM:602018 xref: REACTOME:Q99748 xref: UNIPROTKB/SWISSPROT:Q99748 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:388 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hirschsprung disease property_value: alternative:term "NTN" xsd:string property_value: symbol "NRTN" xsd:string [Term] id: Orphanet:123937 name: nuclear receptor binding SET domain protein 1 xref: ENSEMBL:ENSG00000165671 xref: GENATLAS:NSD1 xref: HGNC:14234 xref: OMIM:606681 xref: UNIPROTKB/SWISSPROT:Q96L73 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:238613 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Beckwith-Wiedemann syndrome due to NSD1 mutation relationship: Orphanet:317343 Orphanet:3447 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Weaver syndrome relationship: Orphanet:317343 Orphanet:821 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sotos syndrome relationship: Orphanet:317349 Orphanet:228415 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 5q35 microduplication syndrome property_value: alternative:term "ARA267" xsd:string property_value: alternative:term "FLJ22263" xsd:string property_value: alternative:term "KMT3B" xsd:string property_value: alternative:term "Sotos syndrome" xsd:string property_value: alternative:term "STO" xsd:string property_value: symbol "NSD1" xsd:string [Term] id: Orphanet:123942 name: NAD(P) dependent steroid dehydrogenase-like xref: ENSEMBL:ENSG00000147383 xref: GENATLAS:NSDHL xref: HGNC:13398 xref: OMIM:300275 xref: REACTOME:Q15738 xref: UNIPROTKB/SWISSPROT:Q15738 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:139 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CHILD syndrome relationship: Orphanet:317343 Orphanet:251383 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CK syndrome property_value: alternative:term "H105e3" xsd:string property_value: alternative:term "SDR31E1" xsd:string property_value: alternative:term "short chain dehydrogenase/reductase family 31E, member 1" xsd:string property_value: alternative:term "XAP104" xsd:string property_value: symbol "NSDHL" xsd:string [Term] id: Orphanet:123953 name: 5'-nucleotidase, cytosolic IIIA xref: ENSEMBL:ENSG00000122643 xref: GENATLAS:NT5C3 xref: HGNC:17820 xref: OMIM:606224 xref: REACTOME:Q9H0P0 xref: UNIPROTKB/SWISSPROT:Q9H0P0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:35120 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency property_value: alternative:term "5'-nucleotidase, cytosolic III" xsd:string property_value: alternative:term "cN-III" xsd:string property_value: alternative:term "hUMP1" xsd:string property_value: alternative:term "lupin" xsd:string property_value: alternative:term "NT5C3" xsd:string property_value: alternative:term "p36" xsd:string property_value: alternative:term "P5'N-1" xsd:string property_value: alternative:term "PN-I" xsd:string property_value: alternative:term "POMP" xsd:string property_value: alternative:term "PSN1" xsd:string property_value: alternative:term "UMPH" xsd:string property_value: alternative:term "UMPH1" xsd:string property_value: symbol "NT5C3A" xsd:string [Term] id: Orphanet:123961 name: neurotrophic tyrosine kinase, receptor, type 1 xref: ENSEMBL:ENSG00000198400 xref: GENATLAS:NTRK1 xref: HGNC:8031 xref: IUPHAR:1817 xref: OMIM:191315 xref: REACTOME:P04629 xref: UNIPROTKB/SWISSPROT:P04629 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:642 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary sensory and autonomic neuropathy type 4 relationship: Orphanet:317343 Orphanet:64752 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary sensory and autonomic neuropathy type 5 relationship: Orphanet:317343 Orphanet:99361 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial medullary thyroid carcinoma relationship: Orphanet:317348 Orphanet:146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Papillary or follicular thyroid carcinoma property_value: alternative:term "high affinity nerve growth factor receptor" xsd:string property_value: alternative:term "MTC" xsd:string property_value: alternative:term "TRK" xsd:string property_value: alternative:term "TRKA" xsd:string property_value: symbol "NTRK1" xsd:string [Term] id: Orphanet:123966 name: nyctalopin xref: ENSEMBL:ENSG00000188937 xref: GENATLAS:NYX xref: HGNC:8082 xref: OMIM:300278 xref: UNIPROTKB/SWISSPROT:Q9GZU5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:215 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital stationary night blindness property_value: alternative:term "CLRP" xsd:string property_value: alternative:term "CSNB1" xsd:string property_value: alternative:term "CSNB4" xsd:string property_value: symbol "NYX" xsd:string [Term] id: Orphanet:123971 name: ornithine aminotransferase xref: ENSEMBL:ENSG00000065154 xref: GENATLAS:OAT xref: HGNC:8091 xref: OMIM:613349 xref: REACTOME:P04181 xref: UNIPROTKB/SWISSPROT:P04181 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:414 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gyrate atrophy of choroid and retina property_value: alternative:term "gyrate atrophy" xsd:string property_value: alternative:term "HOGA" xsd:string property_value: alternative:term "Ornithine aminotransferase" xsd:string property_value: alternative:term "Ornithine aminotransferase (gyrate atrophy)" xsd:string property_value: alternative:term "ornithine aminotransferase precursor" xsd:string property_value: symbol "OAT" xsd:string [Term] id: Orphanet:123974 name: oculocutaneous albinism II xref: ENSEMBL:ENSG00000104044 xref: GENATLAS:OCA2 xref: HGNC:8101 xref: OMIM:611409 xref: UNIPROTKB/SWISSPROT:Q04671 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79432 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oculocutaneous albinism type 2 relationship: Orphanet:317349 Orphanet:177901 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 relationship: Orphanet:317349 Orphanet:177904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 relationship: Orphanet:317349 Orphanet:72 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Angelman syndrome relationship: Orphanet:317349 Orphanet:98754 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 property_value: alternative:term "BEY" xsd:string property_value: alternative:term "BEY1" xsd:string property_value: alternative:term "BEY2" xsd:string property_value: alternative:term "D15S12" xsd:string property_value: alternative:term "EYCL" xsd:string property_value: alternative:term "EYCL2" xsd:string property_value: alternative:term "EYCL3" xsd:string property_value: alternative:term "eye color 2 (central brown)" xsd:string property_value: alternative:term "eye color 3 (brown)" xsd:string property_value: alternative:term "melanocyte-specific transporter protein" xsd:string property_value: alternative:term "oculocutaneous albinism II (pink-eye dilution (murine) homolog)" xsd:string property_value: alternative:term "Oculocutaneous albinism II (pink-eye dilution homolog, mouse)" xsd:string property_value: alternative:term "P" xsd:string property_value: symbol "OCA2" xsd:string [Term] id: Orphanet:123978 name: oculocerebrorenal syndrome of Lowe xref: ENSEMBL:ENSG00000122126 xref: GENATLAS:OCRL xref: HGNC:8108 xref: OMIM:300535 xref: REACTOME:Q01968 xref: UNIPROTKB/SWISSPROT:Q01968 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:534 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oculocerebrorenal syndrome relationship: Orphanet:317343 Orphanet:93623 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dent disease type 2 property_value: alternative:term "INPP5F" xsd:string property_value: alternative:term "OCRL1" xsd:string property_value: symbol "OCRL" xsd:string [Term] id: Orphanet:123982 name: oral-facial-digital syndrome 1 xref: ENSEMBL:ENSG00000046651 xref: GENATLAS:OFD1 xref: HGNC:2567 xref: OMIM:300170 xref: REACTOME:O75665 xref: UNIPROTKB/SWISSPROT:O75665 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia relationship: Orphanet:317343 Orphanet:2750 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Orofaciodigital syndrome type 1 relationship: Orphanet:317343 Orphanet:2754 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with orofaciodigital defect relationship: Orphanet:317343 Orphanet:79022 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Simpson-Golabi-Behmel syndrome type 2 relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "71-7A" xsd:string property_value: alternative:term "CXorf5" xsd:string property_value: alternative:term "JBTS10" xsd:string property_value: alternative:term "retinitis pigmentosa 23 (X-linked recessive)" xsd:string property_value: alternative:term "RP23" xsd:string property_value: symbol "OFD1" xsd:string [Term] id: Orphanet:123986 name: oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) xref: ENSEMBL:ENSG00000105953 xref: GENATLAS:OGDH xref: HGNC:8124 xref: OMIM:613022 xref: REACTOME:Q02218 xref: UNIPROTKB/SWISSPROT:Q02218 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:31 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oxoglutaricaciduria property_value: alternative:term "E1k" xsd:string property_value: symbol "OGDH" xsd:string [Term] id: Orphanet:123996 name: optic atrophy 1 (autosomal dominant) xref: ENSEMBL:ENSG00000198836 xref: GENATLAS:OPA1 xref: HGNC:8140 xref: OMIM:605290 xref: UNIPROTKB/SWISSPROT:O60313 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1215 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant optic atrophy plus syndrome relationship: Orphanet:317343 Orphanet:3212 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant optic atrophy and congenital deafness relationship: Orphanet:317343 Orphanet:98673 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant optic atrophy, classic type property_value: alternative:term "Dynamin-like 120 kDa protein, mitochondrial" xsd:string property_value: alternative:term "dynamin-like guanosine triphosphatase" xsd:string property_value: alternative:term "FLJ12460" xsd:string property_value: alternative:term "KIAA0567" xsd:string property_value: alternative:term "largeG" xsd:string property_value: alternative:term "MGM1" xsd:string property_value: alternative:term "mitochondrial dynamin-like GTPase" xsd:string property_value: alternative:term "NPG" xsd:string property_value: alternative:term "NTG" xsd:string property_value: symbol "OPA1" xsd:string [Term] id: Orphanet:124 name: Blackfan-Diamond anemia xref: ICD10:D61.0 xref: MESH:D029503 xref: OMIM:105650 xref: OMIM:606129 xref: OMIM:606164 xref: OMIM:610629 xref: OMIM:612527 xref: OMIM:612528 xref: OMIM:612561 xref: OMIM:612562 xref: OMIM:612563 xref: OMIM:613308 xref: OMIM:613309 xref: OMIM:614900 xref: OMIM:615550 xref: SNOMED CT:88854002 xref: UMLS:C1260899 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:68383 ! Rare constitutional medullar aplasia relationship: part_of Orphanet:79191 ! Disorder of purine metabolism property_value: alternative:term "Aase syndrome" xsd:string property_value: alternative:term "Aase-Smith II syndrome" xsd:string property_value: alternative:term "Congenital hypoplastic anemia, Blackfan-Diamond type" xsd:string property_value: alternative:term "Congenital PRCA" xsd:string property_value: alternative:term "Congenital pure red cell aplasia" xsd:string [Term] id: Orphanet:1240 name: Metaphyseal acroscyphodysplasia xref: ICD10:Q78.5 xref: MESH:C537350 xref: OMIM:250215 xref: UMLS:C1855243 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93430 ! Multiple metaphyseal dysplasia property_value: alternative:term "Bellini syndrome" xsd:string property_value: alternative:term "Intellectual deficit - short stature - wedge shaped epiphyses of knees" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Metaphyseal acroscyphodysplasia is a bone dysplasia characterized by severe growth retardation, micromelia predominating in the lower limbs, knee flexion, and severe brachydactyly and typical cup-shaped, large metaphyses." xsd:string [Term] id: Orphanet:124003 name: optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) xref: ENSEMBL:ENSG00000125741 xref: GENATLAS:OPA3 xref: HGNC:8142 xref: OMIM:606580 xref: UNIPROTKB/SWISSPROT:Q9H6K4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:67036 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant optic atrophy and cataract relationship: Orphanet:317343 Orphanet:67047 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 3-methylglutaconic aciduria type 3 property_value: alternative:term "FLJ22187" xsd:string property_value: alternative:term "MGA3" xsd:string property_value: symbol "OPA3" xsd:string [Term] id: Orphanet:124007 name: opsin 1 (cone pigments), long-wave-sensitive xref: ENSEMBL:ENSG00000102076 xref: GENATLAS:OPN1LW xref: HGNC:9936 xref: OMIM:300822 xref: REACTOME:P04000 xref: UNIPROTKB/SWISSPROT:P04000 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:16 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Blue cone monochromatism relationship: Orphanet:317343 Orphanet:1872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone rod dystrophy property_value: alternative:term "CBBM" xsd:string property_value: alternative:term "CBP" xsd:string property_value: alternative:term "COD5" xsd:string property_value: alternative:term "color blindness, protan" xsd:string property_value: alternative:term "cone dystrophy 5 (X-linked)" xsd:string property_value: alternative:term "Opsin 1 (cone pigments), long-wave-sensitive (color blindness, protan)" xsd:string property_value: alternative:term "RCP" xsd:string property_value: alternative:term "red cone photoreceptor pigment" xsd:string property_value: symbol "OPN1LW" xsd:string [Term] id: Orphanet:124012 name: opsin 1 (cone pigments), medium-wave-sensitive xref: ENSEMBL:ENSG00000147380 xref: GENATLAS:OPN1MW xref: HGNC:4206 xref: OMIM:300821 xref: REACTOME:P04001 xref: UNIPROTKB/SWISSPROT:P04001 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:16 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Blue cone monochromatism relationship: Orphanet:317343 Orphanet:1872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone rod dystrophy property_value: alternative:term "CBBM" xsd:string property_value: alternative:term "CBD" xsd:string property_value: alternative:term "COD5" xsd:string property_value: alternative:term "color blindness, deutan" xsd:string property_value: alternative:term "cone dystrophy 5 (X-linked)" xsd:string property_value: alternative:term "GCP" xsd:string property_value: alternative:term "green cone photoreceptor pigment" xsd:string property_value: alternative:term "OPN1MW1" xsd:string property_value: alternative:term "Opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)" xsd:string property_value: symbol "OPN1MW" xsd:string [Term] id: Orphanet:124018 name: opsin 1 (cone pigments), short-wave-sensitive xref: ENSEMBL:ENSG00000128617 xref: GENATLAS:OPN1SW xref: HGNC:1012 xref: OMIM:613522 xref: REACTOME:P03999 xref: UNIPROTKB/SWISSPROT:P03999 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88629 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tritanopia property_value: alternative:term "BCP" xsd:string property_value: alternative:term "Blue cone photoreceptor pigment" xsd:string property_value: alternative:term "Blue-sensitive opsin" xsd:string property_value: alternative:term "BOP" xsd:string property_value: alternative:term "CBT" xsd:string property_value: alternative:term "Color blindness, tritan" xsd:string property_value: symbol "OPN1SW" xsd:string [Term] id: Orphanet:124021 name: optineurin xref: ENSEMBL:ENSG00000123240 xref: GENATLAS:OPTN xref: HGNC:17142 xref: OMIM:602432 xref: REACTOME:Q96CV9 xref: UNIPROTKB/SWISSPROT:Q96CV9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis property_value: alternative:term "FIP2" xsd:string property_value: alternative:term "glaucoma 1, open angle, E (adult-onset)" xsd:string property_value: alternative:term "GLC1E" xsd:string property_value: alternative:term "HIP7" xsd:string property_value: alternative:term "HYPL" xsd:string property_value: alternative:term "NRP" xsd:string property_value: alternative:term "TFIIIA-INTP" xsd:string property_value: symbol "OPTN" xsd:string [Term] id: Orphanet:124029 name: osteopetrosis associated transmembrane protein 1 xref: ENSEMBL:ENSG00000081087 xref: GENATLAS:OSTM1 xref: HGNC:21652 xref: OMIM:607649 xref: REACTOME:Q86WC4 xref: UNIPROTKB/SWISSPROT:Q86WC4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:85179 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile osteopetrosis with neuroaxonal dysplasia property_value: alternative:term "GL" xsd:string property_value: alternative:term "HSPC019" xsd:string property_value: symbol "OSTM1" xsd:string [Term] id: Orphanet:124033 name: ornithine carbamoyltransferase xref: ENSEMBL:ENSG00000036473 xref: GENATLAS:OTC xref: HGNC:8512 xref: OMIM:300461 xref: REACTOME:P00480 xref: UNIPROTKB/SWISSPROT:P00480 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:664 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ornithine transcarbamylase deficiency property_value: symbol "OTC" xsd:string [Term] id: Orphanet:124035 name: otoferlin xref: ENSEMBL:ENSG00000115155 xref: GENATLAS:OTOF xref: HGNC:8515 xref: OMIM:603681 xref: UNIPROTKB/SWISSPROT:Q9HC10 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "DFNB6" xsd:string property_value: alternative:term "DFNB9" xsd:string property_value: alternative:term "FER1L2" xsd:string property_value: symbol "OTOF" xsd:string [Term] id: Orphanet:124040 name: orthodenticle homeobox 2 xref: ENSEMBL:ENSG00000165588 xref: GENATLAS:OTX2 xref: HGNC:8522 xref: OMIM:600037 xref: UNIPROTKB/SWISSPROT:P32243 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178364 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Syndromic microphthalmia type 5 relationship: Orphanet:317343 Orphanet:2542 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated anophthalmia - microphthalmia relationship: Orphanet:317343 Orphanet:3157 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Septo-optic dysplasia relationship: Orphanet:317343 Orphanet:95494 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined pituitary hormone deficiencies, genetic forms relationship: Orphanet:317346 Orphanet:990 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Agnathia - holoprosencephaly - situs inversus property_value: alternative:term "orthodenticle homolog 2 (Drosophila)" xsd:string property_value: symbol "OTX2" xsd:string [Term] id: Orphanet:124042 name: 3-oxoacid CoA transferase 1 xref: ENSEMBL:ENSG00000083720 xref: GENATLAS:OXCT1 xref: HGNC:8527 xref: OMIM:601424 xref: REACTOME:P55809 xref: UNIPROTKB/SWISSPROT:P55809 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:832 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Succinyl-CoA:3-ketoacid CoA transferase deficiency property_value: alternative:term "3-oxoacid CoA transferase" xsd:string property_value: alternative:term "OXCT" xsd:string property_value: alternative:term "SCOT" xsd:string property_value: symbol "OXCT1" xsd:string [Term] id: Orphanet:124046 name: purinergic receptor P2Y, G-protein coupled, 12 xref: ENSEMBL:ENSG00000169313 xref: GENATLAS:P2RY12 xref: HGNC:18124 xref: IUPHAR:328 xref: OMIM:600515 xref: REACTOME:Q9H244 xref: UNIPROTKB/SWISSPROT:Q9H244 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:36355 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! P2Y12 defect property_value: alternative:term "HORK3" xsd:string property_value: alternative:term "P2Y12" xsd:string property_value: alternative:term "SP1999" xsd:string property_value: symbol "P2RY12" xsd:string [Term] id: Orphanet:124051 name: poly(A) binding protein, nuclear 1 xref: ENSEMBL:ENSG00000100836 xref: GENATLAS:PABPN1 xref: HGNC:8565 xref: OMIM:602279 xref: REACTOME:Q86U42 xref: UNIPROTKB/SWISSPROT:Q86U42 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:270 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oculopharyngeal muscular dystrophy property_value: alternative:term "OPMD" xsd:string property_value: alternative:term "PAB2" xsd:string property_value: alternative:term "PABP2" xsd:string property_value: alternative:term "poly(A)-binding protein, nuclear 1" xsd:string property_value: symbol "PABPN1" xsd:string [Term] id: Orphanet:124056 name: PARK2 co-regulated xref: ENSEMBL:ENSG00000112530 xref: GENATLAS:PACRG xref: HGNC:19152 xref: OMIM:608427 xref: UNIPROTKB/SWISSPROT:Q96M98 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2828 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Young adult-onset Parkinsonism property_value: alternative:term "FLJ32724" xsd:string property_value: alternative:term "Glup" xsd:string property_value: alternative:term "HAK005771" xsd:string property_value: alternative:term "PARK2CRG" xsd:string property_value: symbol "PACRG" xsd:string [Term] id: Orphanet:124062 name: platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) xref: ENSEMBL:ENSG00000007168 xref: GENATLAS:PAFAH1B1 xref: HGNC:8574 xref: OMIM:601545 xref: REACTOME:P43034 xref: UNIPROTKB/SWISSPROT:P43034 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:95232 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lissencephaly due to LIS1 mutation relationship: Orphanet:317344 Orphanet:99796 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Subcortical band heterotopia relationship: Orphanet:317349 Orphanet:217385 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 17p13.3 microduplication syndrome relationship: Orphanet:317349 Orphanet:531 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Miller-Dieker syndrome property_value: alternative:term "LIS1" xsd:string property_value: alternative:term "MDCR" xsd:string property_value: alternative:term "MDS" xsd:string property_value: alternative:term "Miller-Dieker syndrome chromosome region" xsd:string property_value: alternative:term "PAFAH" xsd:string property_value: alternative:term "platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)" xsd:string property_value: alternative:term "Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa" xsd:string property_value: alternative:term "platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)" xsd:string property_value: symbol "PAFAH1B1" xsd:string [Term] id: Orphanet:124068 name: phenylalanine hydroxylase xref: ENSEMBL:ENSG00000171759 xref: GENATLAS:PAH xref: HGNC:8582 xref: IUPHAR:1240 xref: OMIM:612349 xref: REACTOME:P00439 xref: UNIPROTKB/SWISSPROT:P00439 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2209 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternal hyperphenylalaninemia relationship: Orphanet:317343 Orphanet:293284 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria relationship: Orphanet:317343 Orphanet:79253 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mild phenylketonuria relationship: Orphanet:317343 Orphanet:79254 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Classical phenylketonuria relationship: Orphanet:317343 Orphanet:79651 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mild hyperphenylalaninemia property_value: alternative:term "PH" xsd:string property_value: alternative:term "phenylalanine 4-monooxygenase" xsd:string property_value: symbol "PAH" xsd:string [Term] id: Orphanet:124070 name: pantothenate kinase 2 xref: ENSEMBL:ENSG00000125779 xref: GENATLAS:PANK2 xref: HGNC:15894 xref: OMIM:606157 xref: REACTOME:Q9BZ23 xref: UNIPROTKB/SWISSPROT:Q9BZ23 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:216866 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Classic pantothenate kinase-associated neurodegeneration relationship: Orphanet:317343 Orphanet:216873 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atypical pantothenate kinase-associated neurodegeneration property_value: alternative:term "C20orf48" xsd:string property_value: alternative:term "FLJ11729" xsd:string property_value: alternative:term "Hallervorden-Spatz syndrome" xsd:string property_value: alternative:term "HARP" xsd:string property_value: alternative:term "HSS" xsd:string property_value: alternative:term "NBIA1" xsd:string property_value: alternative:term "neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)" xsd:string property_value: alternative:term "Pantothenate kinase 2 (Hallervorden-Spatz syndrome)" xsd:string property_value: alternative:term "PKAN" xsd:string property_value: symbol "PANK2" xsd:string [Term] id: Orphanet:124077 name: 3'-phosphoadenosine 5'-phosphosulfate synthase 2 xref: ENSEMBL:ENSG00000198682 xref: GENATLAS:PAPSS2 xref: HGNC:8604 xref: OMIM:603005 xref: REACTOME:O95340 xref: UNIPROTKB/SWISSPROT:O95340 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93282 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spondyloepimetaphyseal dysplasia, Pakistani type relationship: Orphanet:317343 Orphanet:93303 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brachyolmia type 1, Toledo type property_value: alternative:term "ATPSK2" xsd:string property_value: symbol "PAPSS2" xsd:string [Term] id: Orphanet:124080 name: parkin RBR E3 ubiquitin protein ligase xref: ENSEMBL:ENSG00000185345 xref: GENATLAS:PARK2 xref: HGNC:8607 xref: OMIM:602544 xref: REACTOME:O60260 xref: UNIPROTKB/SWISSPROT:O60260 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2828 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Young adult-onset Parkinsonism property_value: alternative:term "AR-JP" xsd:string property_value: alternative:term "E3 ubiquitin ligase" xsd:string property_value: alternative:term "parkin" xsd:string property_value: alternative:term "Parkinson disease (autosomal recessive, juvenile) 2, parkin" xsd:string property_value: alternative:term "parkinson protein 2, E3 ubiquitin protein ligase (parkin)" xsd:string property_value: alternative:term "PDJ" xsd:string property_value: alternative:term "PRKN" xsd:string property_value: symbol "PARK2" xsd:string [Term] id: Orphanet:124084 name: parkinson protein 7 xref: ENSEMBL:ENSG00000116288 xref: GENATLAS:PARK7 xref: HGNC:16369 xref: OMIM:602533 xref: UNIPROTKB/SWISSPROT:Q99497 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2828 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Young adult-onset Parkinsonism relationship: Orphanet:317345 Orphanet:90020 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Amyotrophic lateral sclerosis-parkinsonism-dementia complex property_value: alternative:term "DJ-1" xsd:string property_value: alternative:term "DJ1" xsd:string property_value: alternative:term "Parkinson disease (autosomal recessive, early onset) 7" xsd:string property_value: symbol "PARK7" xsd:string [Term] id: Orphanet:124088 name: paired box 2 xref: ENSEMBL:ENSG00000075891 xref: GENATLAS:PAX2 xref: HGNC:8616 xref: OMIM:167409 xref: UNIPROTKB/SWISSPROT:Q02962 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1475 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Renal coloboma syndrome property_value: alternative:term "paired box gene 2" xsd:string property_value: symbol "PAX2" xsd:string [Term] id: Orphanet:124090 name: paired box 3 xref: ENSEMBL:ENSG00000135903 xref: GENATLAS:PAX3 xref: HGNC:8617 xref: OMIM:606597 xref: UNIPROTKB/SWISSPROT:P23760 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1529 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Craniofacial-deafness-hand syndrome relationship: Orphanet:317343 Orphanet:894 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Waardenburg syndrome type 1 relationship: Orphanet:317343 Orphanet:896 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Waardenburg syndrome type 3 relationship: Orphanet:317348 Orphanet:99756 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alveolar rhabdomyosarcoma property_value: alternative:term "HUP2" xsd:string property_value: alternative:term "paired box gene 3 (Waardenburg syndrome 1)" xsd:string property_value: alternative:term "Waardenburg syndrome 1" xsd:string property_value: alternative:term "WS1" xsd:string property_value: symbol "PAX3" xsd:string [Term] id: Orphanet:124094 name: paired box 6 xref: ENSEMBL:ENSG00000007372 xref: GENATLAS:PAX6 xref: HGNC:8620 xref: OMIM:607108 xref: REACTOME:P26367 xref: UNIPROTKB/SWISSPROT:P26367 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1065 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Aniridia - cerebellar ataxia - intellectual deficit relationship: Orphanet:317343 Orphanet:137902 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated optic nerve hypoplasia relationship: Orphanet:317343 Orphanet:2253 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Foveal hypoplasia - presenile cataract relationship: Orphanet:317343 Orphanet:2334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant keratitis relationship: Orphanet:317343 Orphanet:250923 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated aniridia relationship: Orphanet:317343 Orphanet:35737 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Morning glory syndrome relationship: Orphanet:317343 Orphanet:708 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Peters anomaly relationship: Orphanet:317349 Orphanet:893 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! WAGR syndrome property_value: alternative:term "AN" xsd:string property_value: alternative:term "AN2" xsd:string property_value: alternative:term "aniridia, keratitis" xsd:string property_value: alternative:term "D11S812E" xsd:string property_value: alternative:term "paired box gene 6 (aniridia, keratitis)" xsd:string property_value: alternative:term "WAGR" xsd:string property_value: symbol "PAX6" xsd:string [Term] id: Orphanet:1241 name: Bencze syndrome xref: ICD10:Q67.4 xref: OMIM:141350 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Hemifacial hyperplasia - strabismus" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving abnormal growth of the facial skeleton, its soft tissue structure and organs and is characterized by mild facial asymmetry with unaffected neurocranium and eyeball, as well as esotropia, amblyopia and/or convergent strabismus, and occasional submucous cleft palate. Transmission is autosomal dominant. No new updates since 1979." xsd:string [Term] id: Orphanet:124100 name: paired box 7 xref: ENSEMBL:ENSG00000009709 xref: GENATLAS:PAX7 xref: HGNC:8621 xref: OMIM:167410 xref: UNIPROTKB/SWISSPROT:P23759 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:99756 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alveolar rhabdomyosarcoma property_value: alternative:term "Hup1" xsd:string property_value: alternative:term "paired box gene 7" xsd:string property_value: symbol "PAX7" xsd:string [Term] id: Orphanet:124103 name: paired box 8 xref: ENSEMBL:ENSG00000125618 xref: GENATLAS:PAX8 xref: HGNC:8622 xref: OMIM:167415 xref: UNIPROTKB/SWISSPROT:Q06710 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:95713 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Athyreosis relationship: Orphanet:317343 Orphanet:95720 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thyroid hypoplasia property_value: alternative:term "paired box gene 8" xsd:string property_value: symbol "PAX8" xsd:string [Term] id: Orphanet:124105 name: paired box 9 xref: ENSEMBL:ENSG00000198807 xref: GENATLAS:PAX9 xref: HGNC:8623 xref: OMIM:167416 xref: UNIPROTKB/SWISSPROT:P55771 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99798 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oligodontia property_value: alternative:term "paired box gene 9" xsd:string property_value: symbol "PAX9" xsd:string [Term] id: Orphanet:124107 name: pyruvate carboxylase xref: ENSEMBL:ENSG00000173599 xref: GENATLAS:PC xref: HGNC:8636 xref: OMIM:608786 xref: REACTOME:P11498 xref: UNIPROTKB/SWISSPROT:P11498 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:353308 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pyruvate carboxylase deficiency, infantile type relationship: Orphanet:317343 Orphanet:353314 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pyruvate carboxylase deficiency, severe neonatal type relationship: Orphanet:317343 Orphanet:353320 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pyruvate carboxylase deficiency, benign type property_value: alternative:term "PCB" xsd:string property_value: symbol "PC" xsd:string [Term] id: Orphanet:124110 name: pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha xref: ENSEMBL:ENSG00000166228 xref: GENATLAS:PCBD1 xref: HGNC:8646 xref: OMIM:126090 xref: REACTOME:P61457 xref: UNIPROTKB/SWISSPROT:P61457 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1578 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dehydratase deficiency property_value: alternative:term "6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)" xsd:string property_value: alternative:term "DCOH" xsd:string property_value: alternative:term "dimerizing cofactor for HNF1" xsd:string property_value: alternative:term "PCBD" xsd:string property_value: alternative:term "PCD" xsd:string property_value: alternative:term "Pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1)" xsd:string property_value: alternative:term "pterin-4-alpha carbinolamine dehydratase" xsd:string property_value: alternative:term "Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic nuclear factor 1-alpha)" xsd:string property_value: symbol "PCBD1" xsd:string [Term] id: Orphanet:124115 name: propionyl CoA carboxylase, alpha polypeptide xref: ENSEMBL:ENSG00000175198 xref: GENATLAS:PCCA xref: HGNC:8653 xref: OMIM:232000 xref: REACTOME:P05165 xref: UNIPROTKB/SWISSPROT:P05165 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:35 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Propionic acidemia property_value: alternative:term "Propionyl Coenzyme A carboxylase, alpha polypeptide" xsd:string property_value: symbol "PCCA" xsd:string [Term] id: Orphanet:124117 name: propionyl CoA carboxylase, beta polypeptide xref: ENSEMBL:ENSG00000114054 xref: GENATLAS:PCCB xref: HGNC:8654 xref: OMIM:232050 xref: REACTOME:P05166 xref: UNIPROTKB/SWISSPROT:P05166 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:35 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Propionic acidemia property_value: alternative:term "Propionyl Coenzyme A carboxylase, beta polypeptide" xsd:string property_value: symbol "PCCB" xsd:string [Term] id: Orphanet:124119 name: protocadherin-related 15 xref: ENSEMBL:ENSG00000150275 xref: GENATLAS:PCDH15 xref: HGNC:14674 xref: OMIM:605514 xref: UNIPROTKB/SWISSPROT:Q96QU1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231169 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Usher syndrome type 1 relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "cadherin-related family member 15" xsd:string property_value: alternative:term "CDHR15" xsd:string property_value: alternative:term "deafness, autosomal recessive 23" xsd:string property_value: alternative:term "DFNB23" xsd:string property_value: alternative:term "Protocadherin 15" xsd:string property_value: alternative:term "USH1F" xsd:string property_value: symbol "PCDH15" xsd:string [Term] id: Orphanet:124123 name: phosphoenolpyruvate carboxykinase 1 (soluble) xref: ENSEMBL:ENSG00000124253 xref: GENATLAS:PCK1 xref: HGNC:8724 xref: OMIM:614168 xref: REACTOME:P35558 xref: UNIPROTKB/SWISSPROT:P35558 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79316 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Phosphoenolpyruvate carboxykinase 1 deficiency property_value: alternative:term "PEPCK-C" xsd:string property_value: symbol "PCK1" xsd:string [Term] id: Orphanet:124125 name: phosphoenolpyruvate carboxykinase 2 (mitochondrial) xref: ENSEMBL:ENSG00000100889 xref: GENATLAS:PCK2 xref: HGNC:8725 xref: OMIM:614095 xref: REACTOME:Q16822 xref: UNIPROTKB/SWISSPROT:Q16822 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79317 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Phosphoenolpyruvate carboxykinase 2 deficiency property_value: alternative:term "PEPCK" xsd:string property_value: alternative:term "PEPCK2" xsd:string property_value: symbol "PCK2" xsd:string [Term] id: Orphanet:124129 name: pericentriolar material 1 xref: ENSEMBL:ENSG00000078674 xref: GENATLAS:PCM1 xref: HGNC:8727 xref: OMIM:600299 xref: REACTOME:Q15154 xref: UNIPROTKB/SWISSPROT:Q15154 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Papillary or follicular thyroid carcinoma property_value: alternative:term "PTC4" xsd:string property_value: symbol "PCM1" xsd:string [Term] id: Orphanet:124131 name: proprotein convertase subtilisin/kexin type 1 xref: ENSEMBL:ENSG00000175426 xref: GENATLAS:PCSK1 xref: HGNC:8743 xref: IUPHAR:2382 xref: OMIM:162150 xref: REACTOME:P29120 xref: UNIPROTKB/SWISSPROT:P29120 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:71528 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Obesity due to prohormone convertase I deficiency property_value: alternative:term "NEC1" xsd:string property_value: alternative:term "neuroendocrine convertase 1" xsd:string property_value: alternative:term "PC1" xsd:string property_value: alternative:term "PC3" xsd:string property_value: alternative:term "prohormone convertase 1" xsd:string property_value: alternative:term "prohormone convertase 3" xsd:string property_value: alternative:term "proprotein convertase 1" xsd:string property_value: alternative:term "SPC3" xsd:string property_value: symbol "PCSK1" xsd:string [Term] id: Orphanet:124142 name: programmed cell death 10 xref: ENSEMBL:ENSG00000114209 xref: GENATLAS:PDCD10 xref: HGNC:8761 xref: OMIM:609118 xref: UNIPROTKB/SWISSPROT:Q9BUL8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:221061 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary cerebral cavernous malformation property_value: alternative:term "CCM3" xsd:string property_value: alternative:term "cerebral cavernous malformations 3" xsd:string property_value: alternative:term "TFAR15" xsd:string property_value: symbol "PDCD10" xsd:string [Term] id: Orphanet:124146 name: phosphodiesterase 6A, cGMP-specific, rod, alpha xref: ENSEMBL:ENSG00000132915 xref: GENATLAS:PDE6A xref: HGNC:8785 xref: OMIM:180071 xref: REACTOME:P16499 xref: UNIPROTKB/SWISSPROT:P16499 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "PDEA" xsd:string property_value: alternative:term "RP43" xsd:string property_value: symbol "PDE6A" xsd:string [Term] id: Orphanet:124149 name: phosphodiesterase 6B, cGMP-specific, rod, beta xref: ENSEMBL:ENSG00000133256 xref: GENATLAS:PDE6B xref: HGNC:8786 xref: OMIM:180072 xref: REACTOME:P35913 xref: UNIPROTKB/SWISSPROT:P35913 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:215 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital stationary night blindness relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "congenital stationary night blindness 3, autosomal dominant" xsd:string property_value: alternative:term "CSNB3" xsd:string property_value: alternative:term "PDEB" xsd:string property_value: alternative:term "Phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant)" xsd:string property_value: alternative:term "rd1" xsd:string property_value: alternative:term "RP40" xsd:string property_value: symbol "PDE6B" xsd:string [Term] id: Orphanet:124154 name: platelet-derived growth factor receptor, alpha polypeptide xref: ENSEMBL:ENSG00000134853 xref: GENATLAS:PDGFRA xref: HGNC:8803 xref: IUPHAR:1803 xref: OMIM:173490 xref: REACTOME:P16234 xref: UNIPROTKB/SWISSPROT:P16234 is_a: Orphanet:C010 ! gene relationship: Orphanet:317344 Orphanet:44890 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gastrointestinal stromal tumor relationship: Orphanet:317348 Orphanet:168947 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myeloid neoplasm associated with PDGFRA rearrangement relationship: Orphanet:317348 Orphanet:3260 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Idiopathic hypereosinophilic syndrome relationship: Orphanet:317348 Orphanet:99860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor B-cell acute lymphoblastic leukemia property_value: alternative:term "CD140a" xsd:string property_value: alternative:term "PDGFR2" xsd:string property_value: symbol "PDGFRA" xsd:string [Term] id: Orphanet:124161 name: pyruvate dehydrogenase (lipoamide) alpha 1 xref: ENSEMBL:ENSG00000131828 xref: GENATLAS:PDHA1 xref: HGNC:8806 xref: OMIM:300502 xref: REACTOME:P08559 xref: UNIPROTKB/SWISSPROT:P08559 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:70474 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with cardiomyopathy relationship: Orphanet:317343 Orphanet:79243 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pyruvate dehydrogenase E1-alpha deficiency property_value: alternative:term "PDHA" xsd:string property_value: symbol "PDHA1" xsd:string [Term] id: Orphanet:124164 name: pyruvate dehydrogenase (lipoamide) beta xref: ENSEMBL:ENSG00000168291 xref: GENATLAS:PDHB xref: HGNC:8808 xref: OMIM:179060 xref: REACTOME:P11177 xref: UNIPROTKB/SWISSPROT:P11177 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:255138 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pyruvate dehydrogenase E1-beta deficiency property_value: symbol "PDHB" xsd:string [Term] id: Orphanet:124166 name: pyruvate dehydrogenase complex, component X xref: ENSEMBL:ENSG00000110435 xref: GENATLAS:PDHX xref: HGNC:21350 xref: OMIM:608769 xref: REACTOME:O00330 xref: UNIPROTKB/SWISSPROT:O00330 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:255182 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pyruvate dehydrogenase E3-binding protein deficiency property_value: alternative:term "DLDBP" xsd:string property_value: alternative:term "E3BP" xsd:string property_value: alternative:term "OPDX" xsd:string property_value: alternative:term "PDX1" xsd:string property_value: alternative:term "proX" xsd:string property_value: symbol "PDHX" xsd:string [Term] id: Orphanet:124173 name: pancreatic and duodenal homeobox 1 xref: ENSEMBL:ENSG00000139515 xref: GENATLAS:PDX1 xref: HGNC:6107 xref: OMIM:600733 xref: REACTOME:P52945 xref: UNIPROTKB/SWISSPROT:P52945 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2805 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Partial pancreatic agenesis relationship: Orphanet:317343 Orphanet:552 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MODY syndrome relationship: Orphanet:317343 Orphanet:99885 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Permanent neonatal diabetes mellitus property_value: alternative:term "IDX-1" xsd:string property_value: alternative:term "insulin promoter factor 1, homeodomain transcription factor" xsd:string property_value: alternative:term "IPF1" xsd:string property_value: alternative:term "MODY4" xsd:string property_value: alternative:term "PDX-1" xsd:string property_value: alternative:term "somatostatin transcription factor 1" xsd:string property_value: alternative:term "STF-1" xsd:string property_value: symbol "PDX1" xsd:string [Term] id: Orphanet:124187 name: peptidase D xref: ENSEMBL:ENSG00000124299 xref: GENATLAS:PEPD xref: HGNC:8840 xref: IUPHAR:2389 xref: OMIM:613230 xref: UNIPROTKB/SWISSPROT:P12955 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:742 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Prolidase deficiency property_value: alternative:term "prolidase" xsd:string property_value: symbol "PEPD" xsd:string [Term] id: Orphanet:124189 name: peroxisomal biogenesis factor 1 xref: ENSEMBL:ENSG00000127980 xref: GENATLAS:PEX1 xref: HGNC:8850 xref: OMIM:602136 xref: UNIPROTKB/SWISSPROT:O43933 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:44 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal adrenoleukodystrophy relationship: Orphanet:317343 Orphanet:772 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile Refsum disease relationship: Orphanet:317343 Orphanet:912 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zellweger syndrome property_value: alternative:term "Peroxisome biogenesis factor 1" xsd:string property_value: alternative:term "Zellweger syndrome" xsd:string property_value: alternative:term "Zellweger syndrome 1" xsd:string property_value: alternative:term "ZWS" xsd:string property_value: alternative:term "ZWS1" xsd:string property_value: symbol "PEX1" xsd:string [Term] id: Orphanet:124191 name: peroxisomal biogenesis factor 10 xref: ENSEMBL:ENSG00000157911 xref: GENATLAS:PEX10 xref: HGNC:8851 xref: OMIM:602859 xref: UNIPROTKB/SWISSPROT:O60683 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:247815 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive ataxia due to PEX10 deficiency relationship: Orphanet:317343 Orphanet:44 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal adrenoleukodystrophy relationship: Orphanet:317343 Orphanet:772 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile Refsum disease relationship: Orphanet:317343 Orphanet:912 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zellweger syndrome property_value: alternative:term "Peroxisome biogenesis factor 10" xsd:string property_value: alternative:term "RNF69" xsd:string property_value: symbol "PEX10" xsd:string [Term] id: Orphanet:124194 name: peroxisomal biogenesis factor 12 xref: ENSEMBL:ENSG00000108733 xref: GENATLAS:PEX12 xref: HGNC:8854 xref: OMIM:601758 xref: UNIPROTKB/SWISSPROT:O00623 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:44 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal adrenoleukodystrophy relationship: Orphanet:317343 Orphanet:772 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile Refsum disease relationship: Orphanet:317343 Orphanet:912 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zellweger syndrome property_value: symbol "PEX12" xsd:string [Term] id: Orphanet:124196 name: peroxisomal biogenesis factor 13 xref: ENSEMBL:ENSG00000162928 xref: GENATLAS:PEX13 xref: HGNC:8855 xref: OMIM:601789 xref: UNIPROTKB/SWISSPROT:Q92968 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:44 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal adrenoleukodystrophy relationship: Orphanet:317343 Orphanet:772 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile Refsum disease relationship: Orphanet:317343 Orphanet:912 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zellweger syndrome property_value: alternative:term "Peroxisome biogenesis factor 13" xsd:string property_value: symbol "PEX13" xsd:string [Term] id: Orphanet:124198 name: peroxisomal biogenesis factor 14 xref: ENSEMBL:ENSG00000142655 xref: GENATLAS:PEX14 xref: HGNC:8856 xref: OMIM:601791 xref: UNIPROTKB/SWISSPROT:O75381 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:44 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal adrenoleukodystrophy relationship: Orphanet:317343 Orphanet:772 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile Refsum disease relationship: Orphanet:317343 Orphanet:912 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zellweger syndrome property_value: symbol "PEX14" xsd:string [Term] id: Orphanet:124200 name: peroxisomal biogenesis factor 16 xref: ENSEMBL:ENSG00000121680 xref: GENATLAS:PEX16 xref: HGNC:8857 xref: OMIM:603360 xref: UNIPROTKB/SWISSPROT:Q9Y5Y5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:44 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal adrenoleukodystrophy relationship: Orphanet:317343 Orphanet:772 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile Refsum disease relationship: Orphanet:317343 Orphanet:912 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zellweger syndrome property_value: symbol "PEX16" xsd:string [Term] id: Orphanet:124202 name: peroxisomal biogenesis factor 19 xref: ENSEMBL:ENSG00000162735 xref: GENATLAS:PEX19 xref: HGNC:9713 xref: OMIM:600279 xref: REACTOME:P40855 xref: UNIPROTKB/SWISSPROT:P40855 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:44 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal adrenoleukodystrophy relationship: Orphanet:317343 Orphanet:772 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile Refsum disease relationship: Orphanet:317343 Orphanet:912 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zellweger syndrome property_value: alternative:term "D1S2223E" xsd:string property_value: alternative:term "HK33" xsd:string property_value: alternative:term "housekeeping gene, 33kD" xsd:string property_value: alternative:term "peroxisomal farnesylated protein" xsd:string property_value: alternative:term "PMP1" xsd:string property_value: alternative:term "PMPI" xsd:string property_value: alternative:term "PXF" xsd:string property_value: alternative:term "PXMP1" xsd:string property_value: symbol "PEX19" xsd:string [Term] id: Orphanet:124206 name: peroxisomal biogenesis factor 26 xref: ENSEMBL:ENSG00000215193 xref: GENATLAS:PEX26 xref: HGNC:22965 xref: OMIM:608666 xref: UNIPROTKB/SWISSPROT:Q7Z412 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:44 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal adrenoleukodystrophy relationship: Orphanet:317343 Orphanet:772 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile Refsum disease relationship: Orphanet:317343 Orphanet:912 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zellweger syndrome property_value: alternative:term "FLJ20695" xsd:string property_value: alternative:term "Peroxisome biogenesis factor 26" xsd:string property_value: symbol "PEX26" xsd:string [Term] id: Orphanet:124209 name: peroxisomal biogenesis factor 3 xref: ENSEMBL:ENSG00000034693 xref: GENATLAS:PEX3 xref: HGNC:8858 xref: OMIM:603164 xref: REACTOME:P56589 xref: UNIPROTKB/SWISSPROT:P56589 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:44 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal adrenoleukodystrophy relationship: Orphanet:317343 Orphanet:772 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile Refsum disease relationship: Orphanet:317343 Orphanet:912 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zellweger syndrome property_value: symbol "PEX3" xsd:string [Term] id: Orphanet:124211 name: peroxisomal biogenesis factor 5 xref: ENSEMBL:ENSG00000139197 xref: GENATLAS:PEX5 xref: HGNC:9719 xref: OMIM:600414 xref: UNIPROTKB/SWISSPROT:P50542 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:44 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal adrenoleukodystrophy relationship: Orphanet:317343 Orphanet:772 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile Refsum disease relationship: Orphanet:317343 Orphanet:912 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zellweger syndrome property_value: alternative:term "peroxisome receptor 1" xsd:string property_value: alternative:term "PTS1R" xsd:string property_value: alternative:term "PXR1" xsd:string property_value: symbol "PEX5" xsd:string [Term] id: Orphanet:124215 name: peroxisomal biogenesis factor 6 xref: ENSEMBL:ENSG00000124587 xref: GENATLAS:PEX6 xref: HGNC:8859 xref: OMIM:601498 xref: UNIPROTKB/SWISSPROT:Q13608 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:44 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal adrenoleukodystrophy relationship: Orphanet:317343 Orphanet:772 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile Refsum disease relationship: Orphanet:317343 Orphanet:912 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zellweger syndrome property_value: alternative:term "PAF-2" xsd:string property_value: alternative:term "PXAAA1" xsd:string property_value: symbol "PEX6" xsd:string [Term] id: Orphanet:124219 name: peroxisomal biogenesis factor 7 xref: ENSEMBL:ENSG00000112357 xref: GENATLAS:PEX7 xref: HGNC:8860 xref: OMIM:601757 xref: UNIPROTKB/SWISSPROT:O00628 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:309789 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rhizomelic chondrodysplasia punctata type 1 relationship: Orphanet:317343 Orphanet:773 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Refsum disease property_value: alternative:term "PTS2R" xsd:string property_value: alternative:term "RD" xsd:string property_value: alternative:term "Refsum disease" xsd:string property_value: symbol "PEX7" xsd:string [Term] id: Orphanet:124223 name: phosphofructokinase, muscle xref: ENSEMBL:ENSG00000152556 xref: GENATLAS:PFKM xref: HGNC:8877 xref: OMIM:610681 xref: REACTOME:P08237 xref: UNIPROTKB/SWISSPROT:P08237 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:371 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to muscle phosphofructokinase deficiency property_value: alternative:term "PFK-1" xsd:string property_value: alternative:term "PFKX" xsd:string property_value: alternative:term "phosphofructokinase, polypeptide X" xsd:string property_value: symbol "PFKM" xsd:string [Term] id: Orphanet:124227 name: phosphoglycerate kinase 1 xref: ENSEMBL:ENSG00000102144 xref: GENATLAS:PGK1 xref: HGNC:8896 xref: OMIM:311800 xref: REACTOME:P00558 xref: UNIPROTKB/SWISSPROT:P00558 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:713 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to phosphoglycerate kinase 1 deficiency property_value: symbol "PGK1" xsd:string [Term] id: Orphanet:124229 name: phosphoglucomutase 1 xref: ENSEMBL:ENSG00000079739 xref: GENATLAS:PGM1 xref: HGNC:8905 xref: OMIM:171900 xref: REACTOME:P36871 xref: UNIPROTKB/SWISSPROT:P36871 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319646 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! PGM-CDG relationship: Orphanet:317343 Orphanet:711 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to phosphoglucomutase deficiency property_value: symbol "PGM1" xsd:string [Term] id: Orphanet:124239 name: phosphate regulating endopeptidase homolog, X-linked xref: ENSEMBL:ENSG00000102174 xref: GENATLAS:PHEX xref: HGNC:8918 xref: OMIM:300550 xref: UNIPROTKB/SWISSPROT:P78562 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:89936 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked hypophosphatemia property_value: alternative:term "HPDR" xsd:string property_value: alternative:term "HPDR1" xsd:string property_value: alternative:term "HYP" xsd:string property_value: alternative:term "HYP1" xsd:string property_value: alternative:term "PEX" xsd:string property_value: alternative:term "Phosphate regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D resistant rickets)" xsd:string property_value: alternative:term "phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)" xsd:string property_value: alternative:term "XLH" xsd:string property_value: symbol "PHEX" xsd:string [Term] id: Orphanet:1243 name: Best vitelliform macular dystrophy xref: ICD10:H35.5 xref: OMIM:153700 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98664 ! Genetic macular dystrophy property_value: alternative:term "Best disease" xsd:string property_value: alternative:term "Best macular dystrophy" xsd:string property_value: alternative:term "BMD" xsd:string property_value: alternative:term "BVMD" xsd:string property_value: alternative:term "Dystrophie maculaire héréditaire de Best" xsd:string property_value: alternative:term "Early-onset vitelliform macular dystrophy" xsd:string property_value: alternative:term "Juvenile-onset vitelliform macular dystrophy" xsd:string property_value: alternative:term "Polymorphic vitelline macular degeneration" xsd:string property_value: alternative:term "Vitelliform macular dystrophy type 2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and decrease in the Arden ratio secondary to egg yolk-like lesion located in the foveal or parafoveal region." xsd:string [Term] id: Orphanet:1245 name: BIDS syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_33364 with label: Trichothiodystrophy" xsd:string [Term] id: Orphanet:1246 name: Brachydactyly - nystagmus - cerebellar ataxia xref: ICD10:Q87.8 xref: OMIM:113400 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit property_value: alternative:term "Biemond syndrome" xsd:string [Term] id: Orphanet:1247 name: Schistosomiasis xref: ICD10:B65 xref: MEDDRA:10039603 xref: MESH:D012552 xref: OMIM:181460 xref: SNOMED CT:10087007 xref: SNOMED CT:105661001 xref: UMLS:C0036323 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:163588 ! Rare parasitic disease [Term] id: Orphanet:1248 name: Maxillo-nasal dysplasia xref: ICD10:Q75.8 xref: OMIM:155050 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Binder syndrome" xsd:string property_value: alternative:term "Maxillo-nasal dysostosis" xsd:string [Term] id: Orphanet:1249 name: Binswanger disease xref: ICD10:I67.3 xref: MEDDRA:10058321 xref: UMLS:C0270786 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease relationship: part_of Orphanet:98549 ! Cerebrovascular dementia [Term] id: Orphanet:125 name: Bloom syndrome xref: ICD10:Q87.1 xref: ICD10:Q99.8 xref: MESH:D001816 xref: OMIM:210900 xref: SNOMED CT:4434006 xref: UMLS:C0005859 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139021 ! Malformation syndrome with short stature relationship: part_of Orphanet:169346 ! DNA repair defect other than combined T-cell and B-cell immunodeficiencies relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:183490 ! Genetic photodermatosis relationship: part_of Orphanet:183570 ! Genetic malformation syndrome with short stature relationship: part_of Orphanet:68347 ! Tumor of hematopoietic and lymphoid tissues relationship: part_of Orphanet:79390 ! Rare photodermatosis relationship: part_of Orphanet:98709 ! Ectodermal malformation syndrome associated with ocular features property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Bloom syndrome is a rare autosomal recessive disorder belonging to a group of chromosomal breakage syndromes, and is characterized by marked genetic instability, including a high level of sister chromatid exchanges, associated with a greatly increased predisposition to a wide range of cancers commonly affecting the general population. The constant clinical features of BS are proportionate pre- and postnatal growth retardation and cancer predisposition. Additional clinical features include dolichocephaly, facial sun-sensitive telangiectatic erythema, patchy areas of hyper- and hypopigmentation of the skin and moderate to severe immunodeficiency manifested by recurrent respiratory tract and gastrointestinal infections." xsd:string [Term] id: Orphanet:1251 name: Blepharo-facio-skeletal syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_2353 with label: Schilbach-Rott syndrome" xsd:string [Term] id: Orphanet:1252 name: Blepharonasofacial malformation syndrome xref: ICD10:Q87.0 xref: OMIM:110050 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:156246 ! Nose and cavum anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Pashayan syndrome" xsd:string property_value: alternative:term "Pashayan-Prozansky syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability." xsd:string [Term] id: Orphanet:1253 name: Ascher syndrome xref: ICD10:Q87.0 xref: OMIM:109900 xref: SNOMED CT:28599006 xref: UMLS:C0339085 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Blepharochalasis - double lip" xsd:string [Term] id: Orphanet:1256 name: Blepharophimosis - radioulnar synostosis is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:93459 ! Syndrome with synostosis or other joint formation defect relationship: part_of Orphanet:98578 ! Ptosis property_value: alternative:term "Jorgenson-Lenz syndrome" xsd:string [Term] id: Orphanet:1258 name: Blepharoptosis - cleft palate - ectrodactyly - dental anomalies is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component property_value: alternative:term "Rodini-Richieri Costa syndrome" xsd:string [Term] id: Orphanet:1259 name: Blepharoptosis - myopia - ectopia lentis xref: ICD10:Q15.8 xref: MESH:C536236 xref: OMIM:110150 xref: UMLS:C1862259 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: part_of Orphanet:98653 ! Lens position anomaly [Term] id: Orphanet:126 name: Blepharophimosis - epicanthus inversus - ptosis xref: ICD10:Q10.3 xref: OMIM:110100 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: part_of Orphanet:95710 ! Non-acquired premature ovarian failure relationship: part_of Orphanet:98571 ! Secondary ectropion relationship: part_of Orphanet:98575 ! Telecanthus relationship: part_of Orphanet:98578 ! Ptosis property_value: alternative:term "Blepharophimosis types 1 and 2" xsd:string [Term] id: Orphanet:1260 name: Sino-auricular heart block xref: ICD10:I45.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease [Term] id: Orphanet:1261 name: Bonnemann-Meinecke-Reich syndrome xref: ICD10:Q04.8 xref: OMIM:225755 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Encephalopathy - intracerebral calcification - retinal degeneration" xsd:string [Term] id: Orphanet:1262 name: Böök syndrome xref: ICD10:Q82.4 xref: OMIM:112300 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Böök syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases in 4 generations) and one isolated case and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features described in the isolated affected individual include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics." xsd:string [Term] id: Orphanet:1263 name: Boomerang dysplasia xref: ICD10:Q87.1 xref: MESH:C536573 xref: OMIM:112310 xref: SNOMED CT:254054000 xref: UMLS:C0432201 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93425 ! Filamin-related bone disorder relationship: part_of Orphanet:93441 ! Primary bone dysplasia with multiple joint dislocations property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones." xsd:string [Term] id: Orphanet:1264 name: Tricho-retino-dento-digital syndrome xref: ICD10:Q82.4 xref: OMIM:191482 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Bork syndrome" xsd:string property_value: alternative:term "Uncombable hair - retinal pigmentary dystrophy - dental anomalies - brachydactyly" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore hyperactivity and a mild intellectual deficit have been reported in affected patients." xsd:string [Term] id: Orphanet:1266 name: Dermato-cardio-skeletal syndrome, Borrone type xref: ICD10:Q87.8 xref: OMIM:211170 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dermato-cardio-skeletal syndrome, Borrone type, is a dysmorphic syndrome characterized by a coarse facies with full lips, severe acne (acne conglobata), mitral valve prolapse, brachydactyly and vertebral abnormalities. The onset of debilitating dermato-cardio-skeletal manifestations has been reported from around puberty. With age and the progressive nature of this disorder, osteolysis, flexion contractures of large joints, gingival hypertrophy and thick skin have been reported." xsd:string [Term] id: Orphanet:1267 name: Botulism xref: ICD10:A05.1 xref: MEDDRA:10006041 xref: MESH:D001906 xref: SNOMED CT:398565003 xref: SNOMED CT:414531002 xref: UMLS:C0006057 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease relationship: part_of Orphanet:98494 ! Acquired neuromuscular junction disease [Term] id: Orphanet:127 name: Borjeson-Forssman-Lehmann syndrome xref: ICD10:Q87.8 xref: MESH:C536575 xref: OMIM:301900 xref: SNOMED CT:21634003 xref: UMLS:C0265339 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:240371 ! Syndromic obesity relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit relationship: part_of Orphanet:98578 ! Ptosis property_value: alternative:term "BFLS" xsd:string property_value: alternative:term "Intelectual deficiency - epilepsy - endocrine disorders" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes." xsd:string [Term] id: Orphanet:1270 name: Bowen-Conradi syndrome xref: ICD10:Q02 xref: MESH:C537081 xref: OMIM:211180 xref: UMLS:C1859405 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:269528 ! Syndrome with microcephaly as major feature property_value: alternative:term "Bowen syndrome, Hutterite type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." xsd:string [Term] id: Orphanet:1271 name: Bowen syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_912 with label: Zellweger syndrome" xsd:string [Term] id: Orphanet:1272 name: Fine-Lubinsky syndrome xref: ICD10:Q87.8 xref: MESH:C537933 xref: OMIM:601353 xref: UMLS:C0795941 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:98641 ! Syndromic cataract property_value: alternative:term "Brachycephaly - deafness - cataract - intellectual deficit" xsd:string [Term] id: Orphanet:1275 name: Brachydactyly - elbow wrist dysplasia xref: ICD10:Q73.8 xref: OMIM:186550 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: alternative:term "Brachydactyly - joint dysplasia" xsd:string property_value: alternative:term "Liebenberg syndrome" xsd:string [Term] id: Orphanet:1276 name: Brachydactyly - arterial hypertension xref: ICD10:I10 xref: OMIM:112410 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:156629 ! Genetic hypertension relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Brachydactyly - arterial hypertension syndrome is characterised by the association of brachydactyly and severe hypertension that responds to antihypertensive drugs." xsd:string [Term] id: Orphanet:1277 name: Brachydactyly - mesomelia - intellectual deficit - heart defects xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Stratton-Garcia-Young syndrome" xsd:string [Term] id: Orphanet:1278 name: Brachydactyly - preaxial hallux varus xref: ICD10:Q73.8 xref: OMIM:112450 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly [Term] id: Orphanet:128 name: Diphyllobothriasis xref: ICD10:B70.0 xref: SNOMED CT:29061002 xref: UMLS:C0277032 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:163588 ! Rare parasitic disease property_value: alternative:term "Bothriocephalosis" xsd:string [Term] id: Orphanet:129 name: Pseudo-pelade of Brocq xref: ICD10:L66.0 xref: MESH:C531609 xref: SNOMED CT:238731001 xref: UMLS:C0086873 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79364 ! Alopecia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation." xsd:string [Term] id: Orphanet:1292 name: Brachymorphism - onychodysplasia - dysphalangism xref: ICD10:Q87.1 xref: MESH:C536242 xref: OMIM:113477 xref: UMLS:C1862082 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: alternative:term "BOD syndrome" xsd:string property_value: alternative:term "Senior syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare bone disease that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual deficit. Coffin-Siris syndrome (see this term) and BOD syndrome have been suggested to possibly be allelic variants." xsd:string [Term] id: Orphanet:1293 name: Brachyolmia xref: ICD10:Q76.3 xref: MESH:C537098 xref: OMIM:113500 xref: OMIM:271530 xref: OMIM:271630 xref: OMIM:601216 xref: OMIM:613678 xref: SNOMED CT:254088006 xref: UMLS:C0432228 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93434 ! Spondylodysplastic dysplasia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Brachyolmia is a rare clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones." xsd:string [Term] id: Orphanet:1295 name: Brachytelephalangy - dysmorphism - Kallmann syndrome xref: OMIM:113480 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly [Term] id: Orphanet:1296 name: Lambert syndrome xref: ICD10:Q87.8 xref: MESH:C538396 xref: OMIM:245550 xref: UMLS:C1855551 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:156202 ! Otomandibular dysplasia associated with monogenic syndromes relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome property_value: alternative:term "Branchial dysplasia - intellectual deficit - inguinal hernia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit." xsd:string [Term] id: Orphanet:1297 name: Branchio-oculo-facial syndrome xref: ICD10:Q18.8 xref: OMIM:113620 xref: UMLS:C0376524 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "BOFS" xsd:string [Term] id: Orphanet:1299 name: Branchio-skeleto-genital syndrome xref: ICD10:Q87.8 xref: OMIM:211380 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Brachio-skeleto-genital syndrome is a multiple congenital anomalies syndrome characterised by intellectual deficit, maxillary hypoplasia, mandibular prognathism, dental cysts, a broad nasal bridge, hypertelorism, bifid uvula or partial cleft plate, pectus excavatum, fused cervical spinous processes, penoscrotal hypospadias, and Schmorl nodes (vertical disc herniations through the cartilaginous vertebral body endplates)." xsd:string [Term] id: Orphanet:13 name: 6-pyruvoyl-tetrahydropterin synthase deficiency xref: ICD10:E70.1 xref: MESH:C535325 xref: OMIM:261640 xref: UMLS:C0878676 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:238583 ! Hyperphenylalaninemia property_value: alternative:term "Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency" xsd:string [Term] id: Orphanet:130 name: Brugada syndrome xref: ICD10:I47.2 xref: MEDDRA:10059027 xref: MESH:D053840 xref: OMIM:601144 xref: OMIM:611777 xref: OMIM:611875 xref: OMIM:611876 xref: OMIM:612838 xref: OMIM:613119 xref: OMIM:613120 xref: OMIM:613123 xref: SNOMED CT:418818005 xref: UMLS:C1142166 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease property_value: alternative:term "Bangungut" xsd:string property_value: alternative:term "Dream disease" xsd:string property_value: alternative:term "Idiopathic ventricular fibrillation, Brugada type" xsd:string property_value: alternative:term "Pokkuri death syndrome" xsd:string property_value: alternative:term "Sudden unexplained nocturnal death syndrome" xsd:string property_value: alternative:term "SUNDS" xsd:string [Term] id: Orphanet:1300 name: Autosomal dominant popliteal pterygium syndrome xref: ICD10:Q87.2 xref: OMIM:119500 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations relationship: part_of Orphanet:294963 ! Popliteal pterygium syndrome relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:98565 ! Syndromic ankyloblepharon property_value: alternative:term "Facio-genito-popliteal syndrome" xsd:string property_value: alternative:term "Popliteal web syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant popliteal pterygium syndrome (PPS) is a rare genetic malformative disorder characterized by cleft lip with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, and syndactyly of fingers and/or toes." xsd:string [Term] id: Orphanet:1301 name: Bronchiectasis - oligospermia is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_3471 with label: Young syndrome" xsd:string [Term] id: Orphanet:1302 name: Cryptogenic organizing pneumonia xref: ICD10:J84.8 xref: MESH:D018549 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98300 ! Idiopathic interstitial pneumonia property_value: alternative:term "Bronchiolitis obliterans organizing pneumonia" xsd:string [Term] id: Orphanet:1303 name: Bronchiolitis obliterans with obstructive pulmonary disease xref: ICD10:J44.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101944 ! Rare pulmonary disease property_value: alternative:term "BOOP" xsd:string property_value: alternative:term "Constrictive bronchiolitis" xsd:string property_value: alternative:term "Obliterative bronchiolitis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Bronchiolitis obliterans syndrome (BOS) is a lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction." xsd:string [Term] id: Orphanet:1304 name: Brucellosis xref: ICD10:A23.0 xref: ICD10:A23.1 xref: ICD10:A23.2 xref: ICD10:A23.3 xref: ICD10:A23.8 xref: ICD10:A23.9 xref: MEDDRA:10006500 xref: MESH:D002006 xref: SNOMED CT:75702008 xref: UMLS:C0006309 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease [Term] id: Orphanet:1305 name: Feingold syndrome xref: ICD10:Q87.8 xref: OMIM:164280 xref: OMIM:614326 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:108993 ! Nonsyndromic respiratory or mediastinal malformation relationship: part_of Orphanet:108995 ! Syndromic respiratory or mediastinal malformation relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:182111 ! Respiratory malformation relationship: part_of Orphanet:183622 ! Genetic respiratory malformation relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: alternative:term "Brunner-Winter syndrome" xsd:string property_value: alternative:term "Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum" xsd:string property_value: alternative:term "Microcephaly - intellectual deficit - tracheoesophageal fistula" xsd:string property_value: alternative:term "Microcephaly - oculo-digito-esophageal-duodenal syndrome" xsd:string property_value: alternative:term "MMT" xsd:string property_value: alternative:term "MODED syndrome" xsd:string property_value: alternative:term "Oculo-digito-esophageal-duodenal syndrome" xsd:string property_value: alternative:term "ODED syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Feingold syndrome (FS) is a rare inherited disease characterized by microcephaly, short stature and numerous digital anomalies and is comprised of FS type 1 (FS1) and FS type 2 (FS2)." xsd:string [Term] id: Orphanet:1306 name: Buschke-Ollendorff syndrome xref: ICD10:Q78.8 xref: MESH:C537415 xref: OMIM:166700 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:228215 ! Genetic dermis elastic tissue disorder relationship: part_of Orphanet:2781 ! Osteopetrosis property_value: alternative:term "Disseminated dermatofibrosis with osteopoikilosis" xsd:string [Term] id: Orphanet:1307 name: Distal limb deficiencies - micrognathia syndrome xref: ICD10:Q92.3 xref: OMIM:246560 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:262914 ! Partial duplication of the long arm of chromosome 10 relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "10q24 microduplication syndrome" xsd:string property_value: alternative:term "Buttiens-Fryns syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate." xsd:string [Term] id: Orphanet:1308 name: C syndrome xref: ICD10:Q87.8 xref: OMIM:211750 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Opitz trigonocephaly syndrome" xsd:string property_value: alternative:term "Trigonocephaly C syndrome" xsd:string [Term] id: Orphanet:1309 name: Medullary sponge kidney xref: ICD10:Q61.5 xref: MEDDRA:10027104 xref: MESH:D007691 xref: SNOMED CT:236443009 xref: UMLS:C0022681 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:357506 ! Genetic nonsyndromic renal or urinary tract malformation relationship: part_of Orphanet:93546 ! Nonsyndromic renal or urinary tract malformation property_value: alternative:term "Cacchi-Ricci disease" xsd:string property_value: alternative:term "MSK" xsd:string property_value: alternative:term "Precalicial canalicular ectasia" xsd:string [Term] id: Orphanet:131 name: Budd-Chiari syndrome xref: ICD10:I82.0 xref: MEDDRA:10006537 xref: MESH:D006502 xref: OMIM:600880 xref: SNOMED CT:82385007 xref: UMLS:C0856761 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:101938 ! Rare vascular liver disease [Term] id: Orphanet:1310 name: Caffey disease xref: ICD10:M89.8 xref: OMIM:114000 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93443 ! Neonatal osteosclerotic dysplasia property_value: alternative:term "Infantile cortical hyperostosis" xsd:string [Term] id: Orphanet:1314 name: Symmetrical thalamic calcifications xref: ICD10:G93.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:1317 name: CAMFAK syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_1466 with label: COFS syndrome" xsd:string [Term] id: Orphanet:1318 name: Campomelia, Cumming type xref: ICD10:Q87.8 xref: MESH:C537966 xref: OMIM:211890 xref: UMLS:C1859371 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:89832 ! Syndromic lymphedema relationship: part_of Orphanet:93439 ! Bent bone dysplasia [Term] id: Orphanet:1319 name: Camptobrachydactyly xref: ICD10:Q74.8 xref: MESH:C537967 xref: OMIM:114150 xref: UMLS:C1861963 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. No new updates since 1972." xsd:string [Term] id: Orphanet:132 name: Butyrylcholinesterase deficiency xref: MESH:C537417 xref: SNOMED CT:360589003 xref: UMLS:C1283400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:79219 ! Metabolic disease involving other neurotransmitter deficiency [Term] id: Orphanet:1320 name: Camptocormia xref: ICD10:M43.8 xref: MEDDRA:10069646 xref: MESH:C537968 xref: SNOMED CT:13534001 xref: UMLS:C0264162 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206638 ! Acquired skeletal muscle disease property_value: alternative:term "Camptocormism" xsd:string [Term] id: Orphanet:132262 name: fibroblast growth factor receptor 2 xref: ENSEMBL:ENSG00000066468 xref: GENATLAS:FGFR2 xref: HGNC:3689 xref: IUPHAR:1809 xref: OMIM:176943 xref: REACTOME:P21802 xref: UNIPROTKB/SWISSPROT:P21802 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1540 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Jackson-Weiss syndrome relationship: Orphanet:317343 Orphanet:1555 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cutis gyrata - acanthosis nigricans - craniosynostosis relationship: Orphanet:317343 Orphanet:168624 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial scaphocephaly syndrome, McGillivray type relationship: Orphanet:317343 Orphanet:207 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Crouzon disease relationship: Orphanet:317343 Orphanet:2363 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lacrimo-auriculo-dento-digital syndrome relationship: Orphanet:317343 Orphanet:313855 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! FGFR2-related bent bone dysplasia relationship: Orphanet:317343 Orphanet:83 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Antley-Bixler syndrome relationship: Orphanet:317343 Orphanet:87 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Apert syndrome relationship: Orphanet:317343 Orphanet:93258 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pfeiffer syndrome type 1 relationship: Orphanet:317343 Orphanet:93259 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pfeiffer syndrome type 2 relationship: Orphanet:317343 Orphanet:93260 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pfeiffer syndrome type 3 relationship: Orphanet:327767 Orphanet:794 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Saethre-Chotzen syndrome property_value: alternative:term "bacteria-expressed kinase" xsd:string property_value: alternative:term "BEK" xsd:string property_value: alternative:term "CD332" xsd:string property_value: alternative:term "CEK3" xsd:string property_value: alternative:term "CFD1" xsd:string property_value: alternative:term "craniofacial dysostosis 1" xsd:string property_value: alternative:term "Crouzon syndrome" xsd:string property_value: alternative:term "ECT1" xsd:string property_value: alternative:term "Jackson-Weiss syndrome" xsd:string property_value: alternative:term "JWS" xsd:string property_value: alternative:term "K-SAM" xsd:string property_value: alternative:term "keratinocyte growth factor receptor" xsd:string property_value: alternative:term "KGFR" xsd:string property_value: alternative:term "Pfeiffer syndrome" xsd:string property_value: alternative:term "TK14" xsd:string property_value: alternative:term "TK25" xsd:string property_value: symbol "FGFR2" xsd:string [Term] id: Orphanet:132264 name: excision repair cross-complementing rodent repair deficiency, complementation group 3 xref: ENSEMBL:ENSG00000163161 xref: GENATLAS:ERCC3 xref: HGNC:3435 xref: OMIM:133510 xref: REACTOME:P19447 xref: UNIPROTKB/SWISSPROT:P19447 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:276252 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Xeroderma pigmentosum complementation group B relationship: Orphanet:317343 Orphanet:33364 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Trichothiodystrophy property_value: alternative:term "BTF2" xsd:string property_value: alternative:term "GTF2H" xsd:string property_value: alternative:term "RAD25" xsd:string property_value: alternative:term "TFIIH" xsd:string property_value: alternative:term "xeroderma pigmentosum group B complementing" xsd:string property_value: alternative:term "XPB" xsd:string property_value: symbol "ERCC3" xsd:string [Term] id: Orphanet:132271 name: excision repair cross-complementing rodent repair deficiency, complementation group 5 xref: ENSEMBL:ENSG00000134899 xref: GENATLAS:ERCC5 xref: HGNC:3437 xref: OMIM:133530 xref: REACTOME:P28715 xref: UNIPROTKB/SWISSPROT:P28715 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1466 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! COFS syndrome relationship: Orphanet:317343 Orphanet:276267 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Xeroderma pigmentosum complementation group G property_value: alternative:term "Cockayne syndrome" xsd:string property_value: alternative:term "ERCM2" xsd:string property_value: alternative:term "xeroderma pigmentosum, complementation group G" xsd:string property_value: alternative:term "XPGC" xsd:string property_value: symbol "ERCC5" xsd:string [Term] id: Orphanet:132285 name: androgen receptor xref: ENSEMBL:ENSG00000169083 xref: GENATLAS:AR xref: HGNC:644 xref: IUPHAR:628 xref: OMIM:313700 xref: REACTOME:P10275 xref: UNIPROTKB/SWISSPROT:P10275 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:440 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hypospadias relationship: Orphanet:317343 Orphanet:481 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kennedy disease relationship: Orphanet:317343 Orphanet:90797 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Partial androgen insensitivity syndrome relationship: Orphanet:317343 Orphanet:99429 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Complete androgen insensitivity syndrome property_value: alternative:term "AIS" xsd:string property_value: alternative:term "DHTR" xsd:string property_value: alternative:term "dihydrotestosterone receptor" xsd:string property_value: alternative:term "HUMARA" xsd:string property_value: alternative:term "Kennedy disease" xsd:string property_value: alternative:term "NR3C4" xsd:string property_value: alternative:term "SBMA" xsd:string property_value: alternative:term "SMAX1" xsd:string property_value: alternative:term "spinal and bulbar muscular atrophy" xsd:string property_value: alternative:term "testicular feminization" xsd:string property_value: symbol "AR" xsd:string [Term] id: Orphanet:1325 name: Camptodactyly - taurinuria xref: ICD10:Q68.1 xref: MESH:C537972 xref: UMLS:C2931681 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:109009 ! Syndrome with limb malformations as a major feature property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Camptodactyly-taurinuria syndrome is characterized by the association of a hand malformation involving a contracture deformity of the proximal interphalangeal joints of the fingers with increased excretion of taurine." xsd:string [Term] id: Orphanet:1326 name: Camptodactyly syndrome, Guadalajara type 2 xref: ICD10:Q87.1 xref: MESH:C537971 xref: OMIM:211920 xref: UMLS:C2931680 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomalies syndrome characterized by a distinct intrauterine growth retardation, skeletal dysplasia with multiple dysmorphisms including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, patella hypoplasia, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. No new updates since 1985." xsd:string [Term] id: Orphanet:1327 name: Camptodactyly syndrome, Guadalajara type 1 xref: ICD10:Q87.1 xref: MESH:C537970 xref: OMIM:211910 xref: UMLS:C2931679 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies." xsd:string [Term] id: Orphanet:1328 name: Camurati-Engelmann disease xref: ICD10:Q78.3 xref: MESH:D003966 xref: OMIM:131300 xref: UMLS:C0011989 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density property_value: alternative:term "Progressive diaphyseal dysplasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." xsd:string [Term] id: Orphanet:1329 name: Complete atrioventricular canal xref: ICD10:Q21.2 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98722 ! Atrioventricular canal defect property_value: alternative:term "CAVC" xsd:string property_value: alternative:term "Common atrioventricular canal" xsd:string property_value: alternative:term "Complete atrioventricular septal defect" xsd:string [Term] id: Orphanet:133 name: Chronic berylliosis xref: ICD10:J63.2 xref: MEDDRA:10004485 xref: MESH:D001607 xref: SNOMED CT:18121009 xref: UMLS:C0221052 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182098 ! Pneumoconiosis property_value: alternative:term "Berylliosis" xsd:string property_value: alternative:term "Beryllium granulomatosis" xsd:string property_value: alternative:term "Beryllium pneumonosis" xsd:string property_value: alternative:term "Chronic beryllium disease" xsd:string property_value: alternative:term "Chronic beryllium lung disease" xsd:string [Term] id: Orphanet:1330 name: Partial atrioventricular canal xref: ICD10:Q21.2 xref: MESH:C536112 xref: UMLS:C0344735 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:98722 ! Atrioventricular canal defect property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by a primum atrial septal defect (ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea." xsd:string [Term] id: Orphanet:1331 name: Familial prostate cancer xref: ICD10:C61 xref: MESH:C537243 xref: OMIM:176807 xref: OMIM:300147 xref: OMIM:300704 xref: OMIM:601518 xref: OMIM:602759 xref: OMIM:603688 xref: OMIM:608656 xref: OMIM:608658 xref: OMIM:609299 xref: OMIM:609558 xref: OMIM:610321 xref: OMIM:610997 xref: OMIM:611100 xref: OMIM:611868 xref: OMIM:611928 xref: OMIM:611955 xref: OMIM:611958 xref: OMIM:611959 xref: OMIM:614731 xref: UMLS:C2931456 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:156619 ! Rare genetic urogenital disease relationship: part_of Orphanet:271844 ! Genetic urogenital tumor relationship: part_of Orphanet:98058 ! Rare urinary tract tumor property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." xsd:string [Term] id: Orphanet:1332 name: Medullary thyroid carcinoma xref: ICD10:C73 xref: MEDDRA:10027101 xref: MESH:C536914 xref: SNOMED CT:255032005 xref: UMLS:C0238462 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:100088 ! Thyroid carcinoma property_value: alternative:term "MTC" xsd:string [Term] id: Orphanet:1333 name: Familial pancreatic carcinoma xref: ICD10:C25 xref: MESH:C535837 xref: OMIM:260350 xref: OMIM:606856 xref: OMIM:613347 xref: OMIM:613348 xref: OMIM:614320 xref: UMLS:C2931038 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:165661 ! Genetic pancreatic disease relationship: part_of Orphanet:217074 ! Pancreatic carcinoma property_value: alternative:term "Familial pancreatic cancer" xsd:string [Term] id: Orphanet:1334 name: Chronic mucocutaneous candidiasis xref: ICD10:B37.2 xref: MEDDRA:10009007 xref: MESH:D002178 xref: OMIM:114580 xref: OMIM:212050 xref: OMIM:247650 xref: OMIM:252250 xref: OMIM:607644 xref: OMIM:613108 xref: OMIM:613953 xref: OMIM:613956 xref: OMIM:614162 xref: OMIM:615527 xref: SNOMED CT:234568006 xref: UMLS:C0006845 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183494 ! Genetic immune deficiency with skin involvement relationship: part_of Orphanet:183710 ! Genetic susceptibility to infections due to particular pathogens relationship: part_of Orphanet:79391 ! Immune deficiency with skin involvement property_value: alternative:term "Chronic mucocutaneous candidosis" xsd:string property_value: alternative:term "CMC" xsd:string [Term] id: Orphanet:133452 name: survival of motor neuron 1, telomeric xref: ENSEMBL:ENSG00000172062 xref: GENATLAS:SMN1 xref: HGNC:11117 xref: OMIM:600354 xref: REACTOME:Q16637 xref: UNIPROTKB/SWISSPROT:Q16637 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:83330 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Proximal spinal muscular atrophy type 1 relationship: Orphanet:317343 Orphanet:83418 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Proximal spinal muscular atrophy type 2 relationship: Orphanet:317343 Orphanet:83419 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Proximal spinal muscular atrophy type 3 relationship: Orphanet:317343 Orphanet:83420 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Proximal spinal muscular atrophy type 4 property_value: alternative:term "BCD541" xsd:string property_value: alternative:term "gemin-1" xsd:string property_value: alternative:term "GEMIN1" xsd:string property_value: alternative:term "SMA" xsd:string property_value: alternative:term "SMA1" xsd:string property_value: alternative:term "SMA2" xsd:string property_value: alternative:term "SMA3" xsd:string property_value: alternative:term "SMA@" xsd:string property_value: alternative:term "SMNT" xsd:string property_value: alternative:term "spinal muscular atrophy (Werdnig-Hoffmann disease, Kugelberg-Welander disease)" xsd:string property_value: alternative:term "TDRD16A" xsd:string property_value: alternative:term "tudor domain containing 16A" xsd:string property_value: symbol "SMN1" xsd:string [Term] id: Orphanet:1335 name: Cantrell pentalogy xref: ICD10:Q89.7 xref: MESH:D058502 xref: OMIM:313850 xref: SNOMED CT:281587000 xref: UMLS:C0559483 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108979 ! Syndromic diaphragmatic or abdominal wall malformation relationship: part_of Orphanet:180779 ! Syndromic diaphragmatic or thoracic malformation relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Thoraco-abdominal syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "'Cantrell pentalogy is a malformation syndrome of unknown etiology that consists of the following five features: midline supraumbilical abdominal wall defects; deficiency of the anterior diaphragm; defects in the diaphragmatic pericardium; defects of the lower sternum and congenital intracardiac defects, with exteriorisation of the heart, or 'ectopia cordis', being the most severe malformation. '" xsd:string [Term] id: Orphanet:1336 name: Hyperkeratosis-hyperpigmentation syndrome xref: ICD10:L81.8 xref: ICD10:Q82.8 xref: OMIM:144190 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:308031 ! Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. No new updates since 1993." xsd:string [Term] id: Orphanet:1338 name: Heart defect - tongue hamartoma - polysyndactyly xref: ICD10:Q87.8 xref: MESH:C535849 xref: OMIM:217085 xref: UMLS:C2931046 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Ostravik-Lindemann-Solberg syndrome" xsd:string [Term] id: Orphanet:134 name: Ketoacidosis due to beta-ketothiolase deficiency xref: ICD10:E71.1 xref: OMIM:203750 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79163 ! Classic organic aciduria property_value: alternative:term "Alpha-methyl-acetoacetyl-CoA thiolase deficiency" xsd:string [Term] id: Orphanet:1340 name: Cardiofaciocutaneous syndrome xref: ICD10:Q87.8 xref: MESH:C535579 xref: OMIM:115150 xref: OMIM:615278 xref: OMIM:615279 xref: OMIM:615280 xref: SNOMED CT:403770008 xref: UMLS:C1275081 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:98733 ! Noonan syndrome and Noonan-related syndrome property_value: alternative:term "CFC syndrome" xsd:string [Term] id: Orphanet:1342 name: Heart-hand syndrome type 3 xref: ICD10:Q87.2 xref: OMIM:140450 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:228184 ! Heart-hand syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Atriodigital dysplasia type 3" xsd:string property_value: alternative:term "Cardiomelic syndrome type 3" xsd:string property_value: alternative:term "Heart-hand syndrome, Spanish type" xsd:string property_value: alternative:term "Heart-limb syndrome type 3" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Heart-hand syndrome type 3 is a very rare heart-hand syndrome (see this term), described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands (see this term), affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle." xsd:string [Term] id: Orphanet:1344 name: Atrial stand still xref: ICD10:I45.5 xref: OMIM:108770 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease relationship: part_of Orphanet:217635 ! Familial restrictive cardiomyopathy property_value: alternative:term "Atrial cardiomyopathy with heart block" xsd:string [Term] id: Orphanet:1345 name: Cardiomyopathy - cataract - hip spine disease is_a: Orphanet:377792 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:217619 ! Syndrome associated with dilated cardiomyopathy property_value: alternative:term "Krasnow-Qazi syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy associated the extracardiac manifestations premature cataracts and articular disease of the hips and spine including hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. No new updates since 1985." xsd:string [Term] id: Orphanet:1349 name: Maternally-inherited cardiomyopathy and hearing loss xref: ICD10:I42.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:217587 ! Mitochondrial disease with hypertrophic cardiomyopathy property_value: alternative:term "Maternally-inherited cardiomyopathy and deafness" xsd:string property_value: alternative:term "tRNA-LYS-related cardiomyopathy - hearing loss" xsd:string [Term] id: Orphanet:135 name: CACH syndrome xref: ICD10:E75.2 xref: MESH:C537420 xref: OMIM:603896 xref: UMLS:C1858991 xref: UMLS:C2931489 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:68356 ! Leukodystrophy property_value: alternative:term "Childhood ataxia with diffuse central nervous system hypomyelination" xsd:string property_value: alternative:term "Leukoencephalopathy with vanishing white matter" xsd:string property_value: alternative:term "Myelinosis centralis diffusa" xsd:string [Term] id: Orphanet:1350 name: Heart-hand syndrome type 2 xref: ICD10:Q87.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:228184 ! Heart-hand syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Atriodigital dysplasia type 2" xsd:string property_value: alternative:term "Tabatznik syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation)." xsd:string [Term] id: Orphanet:1352 name: Atrioventricular defect - blepharophimosis -radial defects xref: ICD10:Q87.8 xref: OMIM:600123 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:156532 ! Rare syndrome with cardiac malformations relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:98578 ! Ptosis property_value: alternative:term "Houlston-Ironton-Temple syndrome" xsd:string [Term] id: Orphanet:1354 name: Heart defects - limb shortening xref: ICD10:Q87.2 xref: MESH:C535850 xref: OMIM:212135 xref: UMLS:C1859327 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit [Term] id: Orphanet:1355 name: Heart defect - round face - congenital developmental delay xref: ICD10:Q87.8 xref: OMIM:270460 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Sonoda syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Heart defect – round face – congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit." xsd:string [Term] id: Orphanet:1358 name: Carey-Fineman-Ziter syndrome xref: ICD10:Q87.0 xref: OMIM:254940 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "Myopathy - Moebius - Robin syndrome" xsd:string [Term] id: Orphanet:1359 name: Carney complex xref: ICD10:D44.8 xref: MESH:D056733 xref: OMIM:160980 xref: OMIM:605244 xref: SNOMED CT:239132009 xref: UMLS:C0406810 xref: UMLS:C2607929 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100091 ! Adrenal/paraganglial tumor relationship: part_of Orphanet:100094 ! Multiple polyglandular tumor relationship: part_of Orphanet:168194 ! Rare cardiac tumor relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:271841 ! Genetic cardiac tumor relationship: part_of Orphanet:314749 ! Rare disease with Cushing syndrome as a major feature relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin relationship: part_of Orphanet:98587 ! Palpebral lentiginosis relationship: part_of Orphanet:98591 ! Mesenchymatous palpebral tumor property_value: alternative:term "Carney syndrome" xsd:string property_value: alternative:term "Myxoma - spotty pigmentation - endocrine overactivity" xsd:string [Term] id: Orphanet:136 name: CADASIL xref: ICD10:F01.1 xref: ICD10:I67.8 xref: MEDDRA:10065551 xref: MESH:D046589 xref: OMIM:125310 xref: SNOMED CT:390936003 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:183503 ! Genetic central nervous system and retinal vascular disease relationship: part_of Orphanet:371439 ! Genetic cerebrovascular dementia relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease relationship: part_of Orphanet:98549 ! Cerebrovascular dementia relationship: part_of Orphanet:98692 ! Nervous system anomaly with eye involvement property_value: alternative:term "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy" xsd:string property_value: alternative:term "Hereditary multi-infarct dementia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients." xsd:string [Term] id: Orphanet:1361 name: Carnosinemia xref: ICD10:E70.8 xref: OMIM:212200 xref: SNOMED CT:410052008 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79187 ! Disorder of peptide metabolism property_value: alternative:term "Carnosinase deficiency" xsd:string [Term] id: Orphanet:1366 name: Autosomal recessive palmoplantar keratoderma and congenital alopecia xref: ICD10:Q82.8 xref: ICD10:Q84.0 xref: MESH:C535336 xref: OMIM:212360 xref: UMLS:C1859316 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:307804 ! Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia" xsd:string property_value: alternative:term "Cataract - alopecia - sclerodactyly" xsd:string property_value: alternative:term "Palmoplantar keratoderma and congenital alopecia, Wallis type" xsd:string property_value: alternative:term "PPK-CA, Wallis type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum." xsd:string [Term] id: Orphanet:1368 name: Cataract - ataxia - deafness xref: MESH:C538283 xref: OMIM:212710 xref: UMLS:C0796123 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183518 ! Rare hereditary ataxia relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:1369 name: Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy xref: ICD10:Q87.8 xref: MESH:C538280 xref: OMIM:212350 xref: OMIM:615418 xref: UMLS:C1859317 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:217587 ! Mitochondrial disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:254830 ! Mitochondrial substrate carrier disorder relationship: part_of Orphanet:352312 ! Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement relationship: part_of Orphanet:98647 ! Cardiac disease with cataract property_value: alternative:term "Sengers syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a fatal mitochondrial disease disorder characterized by cataracts, cardio- and skeletal myopathy, exercise intolerance and lactic acidosis. CCM may be progressive or manifest as an acute, neonatal lethal encephalomyopathy." xsd:string [Term] id: Orphanet:137 name: Congenital disorder of glycosylation xref: ICD10:E77.8 is_a: Orphanet:68367 ! Inborn errors of metabolism property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome" xsd:string property_value: alternative:term "CDG" xsd:string [Term] id: Orphanet:1373 name: Cataract - aberrant oral frenula - growth delay xref: ICD10:Q87.8 xref: OMIM:115645 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:98641 ! Syndromic cataract property_value: alternative:term "Wellesley-Carman-French syndrome" xsd:string [Term] id: Orphanet:1375 name: Cataract - hypertrichosis - intellectual deficit xref: ICD10:Q87.8 xref: OMIM:211770 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:79365 ! Hypertrichosis relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:98641 ! Syndromic cataract property_value: alternative:term "CAHMR syndrome" xsd:string [Term] id: Orphanet:137577 name: Neonatal hypoxic and ischemic brain injury is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98006 ! Rare neurologic disease property_value: alternative:term "HIE" xsd:string property_value: alternative:term "Hypoxic and ischemic brain injury in the newborn" xsd:string property_value: alternative:term "Hypoxic-ischemic encephalopathy" xsd:string property_value: alternative:term "Perinatal asphyxia" xsd:string property_value: alternative:term "Perinatal hypoxia" xsd:string [Term] id: Orphanet:137583 name: Vulvar intraepithelial neoplasia is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:180312 ! Rare vulvovaginal tumor property_value: alternative:term "Vulvar intraepithelial tumor" xsd:string [Term] id: Orphanet:137586 name: Herpes simplex virus keratitis xref: ICD10:B00.5+ xref: ICD10:H19.1* is_a: Orphanet:182214 ! Rare inflammatory eye disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Herpetic keratitis" xsd:string property_value: alternative:term "HSV keratitis" xsd:string [Term] id: Orphanet:137593 name: Infectious epithelial keratitis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:137586 ! Herpes simplex virus keratitis [Term] id: Orphanet:137596 name: Neurotrophic keratopathy xref: MEDDRA:10069732 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:137586 ! Herpes simplex virus keratitis property_value: alternative:term "Neurotrophic keratitis" xsd:string [Term] id: Orphanet:137599 name: Stromal keratitis xref: SNOMED CT:1763009 xref: UMLS:C1318020 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:137586 ! Herpes simplex virus keratitis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases." xsd:string [Term] id: Orphanet:1376 name: Congenital cataract - ichthyosis xref: MESH:C538281 xref: OMIM:212400 xref: UMLS:C1859315 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:281244 ! Autosomal ichthyosis syndrome with other associated signs relationship: part_of Orphanet:98649 ! Dentocutaneous disease with cataract [Term] id: Orphanet:137602 name: Endotheliitis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:137586 ! Herpes simplex virus keratitis [Term] id: Orphanet:137605 name: Legius syndrome xref: ICD10:Q85.0 xref: MESH:C548032 xref: OMIM:611431 xref: UMLS:C1969623 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis property_value: alternative:term "Neurofibromatosis 1-like syndrome" xsd:string property_value: alternative:term "NF1-like syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Legius syndrome, also known as NF1-like syndrome, is a very rare, genetic, skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling." xsd:string [Term] id: Orphanet:137608 name: Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:211240 ! Genetic vascular anomaly relationship: part_of Orphanet:211266 ! Arteriovenous malformation relationship: part_of Orphanet:294057 ! Rare nevus relationship: part_of Orphanet:306498 ! PTEN hamartoma tumor syndrome relationship: part_of Orphanet:93460 ! Overgrowth syndrome relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis property_value: alternative:term "SOLAMEN syndrome" xsd:string [Term] id: Orphanet:137617 name: Nephrogenic systemic fibrosis xref: MEDDRA:10067467 xref: SNOMED CT:424114000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:90077 ! Other acquired skin disease property_value: alternative:term "Nephrogenic fibrosing dermopathy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease." xsd:string [Term] id: Orphanet:137622 name: Intractable diarrhea - choanal atresia - eye anomalies is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:156246 ! Nose and cavum anomaly relationship: part_of Orphanet:363300 ! Genetic intractable diarrhea of infancy relationship: part_of Orphanet:73014 ! Intractable diarrhea of infancy [Term] id: Orphanet:137625 name: Glycogen storage disease due to muscle and heart glycogen synthase deficiency xref: ICD10:E74.0 xref: OMIM:611556 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:217572 ! Glycogen storage disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:308520 ! Glycogen storage disease due to glycogen synthase deficiency property_value: alternative:term "Glycogen storage disease type 0b" xsd:string property_value: alternative:term "Glycogenosis due to muscle and heart glycogen synthase deficiency" xsd:string property_value: alternative:term "Glycogenosis type 0b" xsd:string property_value: alternative:term "GSD due to muscle and heart glycogen synthase deficiency" xsd:string property_value: alternative:term "GSD type 0b" xsd:string [Term] id: Orphanet:137628 name: Cardiac anomalies - heterotaxy xref: ICD10:Q28.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:156532 ! Rare syndrome with cardiac malformations [Term] id: Orphanet:137631 name: Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis xref: ICD10:D82.8 xref: OMIM:611926 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183710 ! Genetic susceptibility to infections due to particular pathogens relationship: part_of Orphanet:264665 ! Primary interstitial lung disease specific to childhood relationship: part_of Orphanet:264992 ! Genetic interstitial lung disease relationship: part_of Orphanet:325109 ! Syndrome with 46,XX disorder of sex development relationship: part_of Orphanet:325638 ! Syndrome with disorder of sex development of gynecological interest [Term] id: Orphanet:137634 name: Overgrowth - macrocephaly - facial dysmorphism xref: OMIM:614192 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93460 ! Overgrowth syndrome property_value: alternative:term "RNF135-related overgrowth syndrome" xsd:string [Term] id: Orphanet:137639 name: Leukoencephalopathy - ataxia - hypodontia - hypomyelination xref: OMIM:607694 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:289494 ! Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism property_value: alternative:term "Ataxia - delayed dentition - hypomyelination" xsd:string [Term] id: Orphanet:137646 name: Bardet-Biedl syndrome 12 xref: ENSEMBL:ENSG00000181004 xref: GENATLAS:BBS12 xref: HGNC:26648 xref: OMIM:610683 xref: UNIPROTKB/SWISSPROT:Q6ZW61 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bardet-Biedl syndrome property_value: alternative:term "C4orf24" xsd:string property_value: alternative:term "chromosome 4 open reading frame 24" xsd:string property_value: alternative:term "FLJ35630" xsd:string property_value: alternative:term "FLJ41559" xsd:string property_value: symbol "BBS12" xsd:string [Term] id: Orphanet:137653 name: Microcephaly - digital anomalies - intellectual deficit is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:269528 ! Syndrome with microcephaly as major feature property_value: alternative:term "Kelly-Kirson-Wyatt syndrome" xsd:string [Term] id: Orphanet:137658 name: Microcephaly - intellectual deficit - phalangeal and neurological anomalies xref: OMIM:615236 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:269528 ! Syndrome with microcephaly as major feature property_value: alternative:term "Woods-Crouchman-Huson syndrome" xsd:string [Term] id: Orphanet:137667 name: Capillary malformation - arteriovenous malformation xref: ICD10:Q27.3 xref: OMIM:608354 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:211240 ! Genetic vascular anomaly relationship: part_of Orphanet:211247 ! Capillary malformation relationship: part_of Orphanet:211266 ! Arteriovenous malformation property_value: alternative:term "CM-AVM" xsd:string [Term] id: Orphanet:137672 name: Pellucid marginal degeneration is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101949 ! Rare acquired eye disease [Term] id: Orphanet:137675 name: Histiocytoid cardiomyopathy xref: ICD10:I42.0 xref: MESH:C535584 xref: OMIM:212080 xref: OMIM:500000 xref: UMLS:C1708371 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease relationship: part_of Orphanet:217613 ! Mitochondrial disease with dilated cardiomyopathy property_value: alternative:term "Foamy myocardial transformation of infancy" xsd:string property_value: alternative:term "Infantile cardiomyopathy with histiocytoid change" xsd:string property_value: alternative:term "Infantile xanthomatous cardiomyopathy" xsd:string property_value: alternative:term "Oncocytic cardiomyopathy" xsd:string [Term] id: Orphanet:137678 name: Czech dysplasia, metatarsal type xref: ICD10:Q77.7 xref: MESH:C535766 xref: OMIM:609162 xref: UMLS:C1836683 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:93421 ! Type 2 collagen-related bone disorder [Term] id: Orphanet:137681 name: Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 xref: ICD10:E88.8 xref: OMIM:609060 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: alternative:term "Hepatoencephalopathy due to COXPD1" xsd:string [Term] id: Orphanet:137686 name: Asherman syndrome xref: ICD10:N85.6 xref: MEDDRA:10022821 xref: MEDDRA:10053868 xref: SNOMED CT:361115000 xref: SNOMED CT:48236007 xref: UMLS:C0156372 xref: UMLS:C1704274 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:180205 ! Rare non-malformative utero-vaginal or vulvo-vaginal disease property_value: alternative:term "Intrauterine adhesions" xsd:string property_value: alternative:term "Intrauterine synechiae" xsd:string [Term] id: Orphanet:1377 name: Cataract-microcornea syndrome xref: ICD10:Q13.8 xref: MESH:C538287 xref: OMIM:116200 xref: OMIM:601547 xref: OMIM:604219 xref: UMLS:C1861829 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: part_of Orphanet:98641 ! Syndromic cataract [Term] id: Orphanet:137754 name: Neurological conditions associated with aminoacylase 1 deficiency xref: ICD10:E72.8 xref: OMIM:609924 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:308448 ! Aminoacylase deficiency relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "ACY1D" xsd:string property_value: alternative:term "N-acyl-L-amino acid amidohydrolase deficiency" xsd:string [Term] id: Orphanet:137776 name: Lethal congenital contracture syndrome type 2 xref: ICD10:Q68.8 xref: OMIM:607598 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:294965 ! Lethal congenital contracture syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "LCCS2" xsd:string property_value: alternative:term "Multiple contracture syndrome, Israeli-Bedouin type" xsd:string [Term] id: Orphanet:137783 name: Lethal congenital contracture syndrome type 3 xref: ICD10:Q68.8 xref: OMIM:611369 xref: OMIM:614915 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:294965 ! Lethal congenital contracture syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "LCCS3" xsd:string [Term] id: Orphanet:137807 name: Primary cutaneous amyloidosis xref: ICD10:E85.4+ xref: ICD10:L99.0* xref: MEDDRA:10011659 xref: SNOMED CT:201337008 xref: SNOMED CT:282834007 xref: UMLS:C0268397 is_a: Orphanet:79381 ! Unclassified dermis disorder relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "PLCA" xsd:string property_value: alternative:term "Primary localized cutaneous amyloidosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis (see these terms)." xsd:string [Term] id: Orphanet:137810 name: Nodular cutaneous amyloidosis xref: ICD10:E85.4+ xref: ICD10:L99.0* xref: MEDDRA:10056953 xref: UMLS:C0546394 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:137807 ! Primary cutaneous amyloidosis property_value: alternative:term "PLCNA" xsd:string property_value: alternative:term "Primary localized cutaneous nodular amyloidosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as Sjögren’s syndrome and CREST syndrome (see these terms)." xsd:string [Term] id: Orphanet:137814 name: Macular amyloidosis xref: ICD10:E85.4+ xref: ICD10:L99.0* is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:137807 ! Primary cutaneous amyloidosis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis." xsd:string [Term] id: Orphanet:137817 name: Arachnoiditis xref: MEDDRA:10003074 xref: MESH:D001100 xref: OMIM:182950 xref: SNOMED CT:8217007 xref: UMLS:C0003708 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98006 ! Rare neurologic disease property_value: alternative:term "Adhesive arachnoiditis" xsd:string property_value: alternative:term "Chronic arachnoiditis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Arachnoiditis (ARC) is a chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems." xsd:string [Term] id: Orphanet:137820 name: Rare endometriosis xref: ICD10:N80 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:180199 ! Non-malformative external or internal genital disease [Term] id: Orphanet:137831 name: X-linked intellectual deficit - cerebellar hypoplasia xref: OMIM:300486 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:269523 ! Syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:269567 ! Genetic syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Oligophrenin-1 syndrome" xsd:string property_value: alternative:term "OPHN1 syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities." xsd:string [Term] id: Orphanet:137834 name: Frank-Ter Haar syndrome xref: OMIM:249420 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:364541 ! Fronto-otopalatodigital syndrome property_value: alternative:term "Ter Haar syndrome" xsd:string [Term] id: Orphanet:137839 name: Lemierre syndrome xref: ICD10:I80.8 xref: MEDDRA:10065552 xref: MESH:D057831 xref: UMLS:C0343525 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease property_value: alternative:term "Lemierre postanginal sepsis" xsd:string property_value: alternative:term "Postanginal sepsis secondary to orophyngeal infection" xsd:string property_value: alternative:term "Septic phlebitis of the internal jugular vein" xsd:string [Term] id: Orphanet:137862 name: Martinez-Frias syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_293864 with label: Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome" xsd:string [Term] id: Orphanet:137867 name: Madras motor neuron disease xref: ICD10:G12.2 xref: SNOMED CT:230255008 xref: UMLS:C0393551 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98505 ! Genetic motor neuron disease property_value: alternative:term "MMND" xsd:string [Term] id: Orphanet:137871 name: Laminopathy type Decaudain-Vigouroux xref: ICD10:E13 xref: ICD10:E78.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181368 ! Insulin-resistance syndrome relationship: part_of Orphanet:181422 ! Rare hyperlipidemia property_value: alternative:term "Laminopathy with severe metabolic syndrome and myopathy" xsd:string [Term] id: Orphanet:137888 name: Auriculocondylar syndrome xref: ICD10:Q75.8 xref: MESH:C538270 xref: OMIM:602483 xref: OMIM:614669 xref: UMLS:C1865295 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:141132 ! Oculo-auriculo-vertebral spectrum relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome property_value: alternative:term "Question mark ear syndrome" xsd:string [Term] id: Orphanet:137893 name: Male infertility associated with large-headed multiflagellar polyploid spermatozoa xref: ICD10:N46 xref: OMIM:243060 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:275742 ! Genetic infertility relationship: part_of Orphanet:98048 ! Rare male infertility [Term] id: Orphanet:137898 name: Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation xref: ICD10:E75.2 xref: OMIM:611105 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182073 ! Syndromic neurometabolic disease with non-X-linked intellectual deficit relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis relationship: part_of Orphanet:68356 ! Leukodystrophy property_value: alternative:term "LBSL" xsd:string [Term] id: Orphanet:137902 name: Isolated optic nerve hypoplasia xref: ICD10:H47.0 xref: OMIM:165550 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98671 ! Optic neuropathy [Term] id: Orphanet:137905 name: Syndromic optic nerve hypoplasia is_a: Orphanet:98671 ! Optic neuropathy [Term] id: Orphanet:137908 name: Hypotonia with lactic acidemia and hyperammonemia xref: ICD10:E88.8 xref: OMIM:611719 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: alternative:term "Combined oxidative phosphorylation defect type 5" xsd:string property_value: alternative:term "COXPD5" xsd:string [Term] id: Orphanet:137911 name: Autism - facial port-wine stain is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:180772 ! Rare disease with autism [Term] id: Orphanet:137914 name: Choanal atresia xref: ICD10:Q30.0 xref: MEDDRA:10008587 xref: MESH:D002754 xref: OMIM:608911 xref: SNOMED CT:204508009 xref: UMLS:C0008297 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:156246 ! Nose and cavum anomaly [Term] id: Orphanet:137917 name: Unilateral choanal atresia xref: ICD10:Q30.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:137914 ! Choanal atresia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Unilateral choanal atresia is a congenital anomaly with a usually sporadic etiology that is more commonly seen in females than males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition." xsd:string [Term] id: Orphanet:137920 name: Bilateral choanal atresia xref: ICD10:Q30.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:137914 ! Choanal atresia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Bilateral choanal atresia is a congenital anomaly of usually sporadic origin (but some familial cases have been reported), more commonly seen in females than in males (2:1), where the nose is blocked on both sides by bony or soft tissue formed during embryological development and is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth." xsd:string [Term] id: Orphanet:137923 name: Cervicofacial lymphatic malformation xref: ICD10:D18.1 xref: OMIM:257350 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:155832 ! Rare head and neck malformation relationship: part_of Orphanet:2415 ! Lymphatic malformation [Term] id: Orphanet:137926 name: Primary laryngeal lymphangioma is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:156249 ! Larynx anomaly [Term] id: Orphanet:137929 name: Neonatal brainstem dysfunction is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:137932 name: Congenital laryngeal palsy xref: ICD10:J38.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:156249 ! Larynx anomaly relationship: part_of Orphanet:98006 ! Rare neurologic disease property_value: alternative:term "Congenital vocal cord paralysis" xsd:string [Term] id: Orphanet:137935 name: Laryngotracheal angioma xref: ICD10:D18.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:156249 ! Larynx anomaly relationship: part_of Orphanet:210592 ! Giant infantile hemangioma [Term] id: Orphanet:137959 name: thromboxane A synthase 1 (platelet) xref: ENSEMBL:ENSG00000059377 xref: GENATLAS:TBXAS1 xref: HGNC:11609 xref: OMIM:274180 xref: REACTOME:P24557 xref: UNIPROTKB/SWISSPROT:P24557 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1802 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ghosal hematodiaphyseal dysplasia property_value: alternative:term "CYP5" xsd:string property_value: alternative:term "CYP5A1" xsd:string property_value: alternative:term "cytochrome P450, family 5, subfamily A, polypeptide 1" xsd:string property_value: alternative:term "THAS" xsd:string property_value: alternative:term "Thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A)" xsd:string property_value: alternative:term "thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)" xsd:string property_value: alternative:term "TS" xsd:string property_value: alternative:term "TXAS" xsd:string property_value: alternative:term "TXS" xsd:string property_value: symbol "TBXAS1" xsd:string [Term] id: Orphanet:137988 name: adaptor-related protein complex 1, sigma 2 subunit xref: ENSEMBL:ENSG00000182287 xref: GENATLAS:AP1S2 xref: HGNC:560 xref: OMIM:300629 xref: REACTOME:P56377 xref: UNIPROTKB/SWISSPROT:P56377 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1568 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures relationship: Orphanet:317343 Orphanet:85335 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fried syndrome property_value: alternative:term "mental retardation, X-linked 59" xsd:string property_value: alternative:term "MRX59" xsd:string property_value: alternative:term "SIGMA1B" xsd:string property_value: symbol "AP1S2" xsd:string [Term] id: Orphanet:138 name: CHARGE syndrome xref: ICD10:Q87.8 xref: MEDDRA:10064063 xref: MESH:D058747 xref: OMIM:214800 xref: SNOMED CT:47535005 xref: UMLS:C0265354 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations relationship: part_of Orphanet:156532 ! Rare syndrome with cardiac malformations relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:174590 ! Congenital hypogonadotropic hypogonadism relationship: part_of Orphanet:181387 ! Syndrome with hypogonadotropic hypogonadism relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:98655 ! Lens shape anomaly property_value: alternative:term "CHARGE association" xsd:string property_value: alternative:term "Coloboma - heart defects - atresia choanae - retardation of growth and development - genitourinary problems - ear abnormalities" xsd:string property_value: alternative:term "Hall-Hittner syndrome" xsd:string [Term] id: Orphanet:1380 name: Cataract - nephropathy - encephalopathy xref: ICD10:Q87.8 xref: OMIM:218900 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Crome syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cataract - nephropathy - encephalopathy describes a lethal combination of manifestations including small stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. No new updates since 1963." xsd:string [Term] id: Orphanet:138041 name: Pierre Robin syndrome associated with collagen disease is_a: Orphanet:138044 ! Syndromic Pierre Robin syndrome is_a: Orphanet:363294 ! Genetic syndromic Pierre Robin syndrome property_value: alternative:term "Pierre Robin sequence associated with collagen disease" xsd:string [Term] id: Orphanet:138044 name: Syndromic Pierre Robin syndrome is_a: Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations [Term] id: Orphanet:138047 name: Pierre Robin syndrome associated with a chromosomal anomaly is_a: Orphanet:138044 ! Syndromic Pierre Robin syndrome is_a: Orphanet:363294 ! Genetic syndromic Pierre Robin syndrome property_value: alternative:term "Pierre Robin sequence associated with a chromosomal anomaly" xsd:string [Term] id: Orphanet:138050 name: Pierre Robin syndrome associated with branchial archs anomalies is_a: Orphanet:138044 ! Syndromic Pierre Robin syndrome is_a: Orphanet:363294 ! Genetic syndromic Pierre Robin syndrome property_value: alternative:term "Pierre Robin sequence associated with branchial archs anomalies" xsd:string [Term] id: Orphanet:138055 name: Pierre Robin syndrome associated with bone disease is_a: Orphanet:138044 ! Syndromic Pierre Robin syndrome is_a: Orphanet:363294 ! Genetic syndromic Pierre Robin syndrome property_value: alternative:term "Pierre Robin sequence associated with bone disease" xsd:string [Term] id: Orphanet:138059 name: Teratogenic Pierre Robin syndrome is_a: Orphanet:138044 ! Syndromic Pierre Robin syndrome property_value: alternative:term "Teratogenic Pierre Robin sequence" xsd:string [Term] id: Orphanet:138063 name: Syndrome associated with Pierre Robin syndrome is_a: Orphanet:138044 ! Syndromic Pierre Robin syndrome is_a: Orphanet:363294 ! Genetic syndromic Pierre Robin syndrome property_value: alternative:term "Syndrome associated with Pierre Robin sequence" xsd:string [Term] id: Orphanet:138066 name: Pierre Robin syndrome associated with miscellaneous anomalies is_a: Orphanet:138044 ! Syndromic Pierre Robin syndrome is_a: Orphanet:363294 ! Genetic syndromic Pierre Robin syndrome property_value: alternative:term "Pierre Robin sequence associated with miscellaneous anomalies" xsd:string [Term] id: Orphanet:1381 name: Cataract - intellectual deficit - anal atresia - urinary defects xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:98641 ! Syndromic cataract property_value: alternative:term "Karandikar-Maria-Kamble syndrome" xsd:string [Term] id: Orphanet:138233 name: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit xref: ENSEMBL:ENSG00000084754 xref: GENATLAS:HADHA xref: HGNC:4801 xref: OMIM:600890 xref: REACTOME:P40939 xref: UNIPROTKB/SWISSPROT:P40939 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:5 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency relationship: Orphanet:317343 Orphanet:746 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial trifunctional protein deficiency relationship: Orphanet:317345 Orphanet:243367 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Acute fatty liver of pregnancy property_value: alternative:term "gastrin-binding protein" xsd:string property_value: alternative:term "GBP" xsd:string property_value: alternative:term "hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase, alpha subunit" xsd:string property_value: alternative:term "LCEH" xsd:string property_value: alternative:term "LCHAD" xsd:string property_value: alternative:term "long-chain 2-enoyl-CoA hydratase" xsd:string property_value: alternative:term "long-chain-3-hydroxyacyl-CoA dehydrogenase" xsd:string property_value: alternative:term "mitochondrial trifunctional protein, alpha subunit" xsd:string property_value: alternative:term "MTPA" xsd:string property_value: symbol "HADHA" xsd:string [Term] id: Orphanet:1383 name: Cataract - deafness - hypogonadism xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Schaap-Taylor-Baraitser syndrome" xsd:string [Term] id: Orphanet:138359 name: NME/NM23 family member 8 xref: ENSEMBL:ENSG00000086288 xref: GENATLAS:TXNDC3 xref: HGNC:16473 xref: OMIM:607421 xref: UNIPROTKB/SWISSPROT:Q8N427 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "CILD6" xsd:string property_value: alternative:term "NM23-H8" xsd:string property_value: alternative:term "Sperm-specific thioredoxin 2" xsd:string property_value: alternative:term "SPTRX2" xsd:string property_value: alternative:term "Thioredoxin domain containing 3 (spermatozoa)" xsd:string property_value: alternative:term "TXNDC3" xsd:string property_value: symbol "NME8" xsd:string [Term] id: Orphanet:138361 name: NLR family, pyrin domain containing 12 xref: ENSEMBL:ENSG00000142405 xref: GENATLAS:NLRP12 xref: HGNC:22938 xref: OMIM:609648 xref: UNIPROTKB/SWISSPROT:P59046 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:247868 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! NLRP12-associated hereditary periodic fever syndrome property_value: alternative:term "CLR19.3" xsd:string property_value: alternative:term "Monarch1" xsd:string property_value: alternative:term "NACHT, leucine rich repeat and PYD containing 12" xsd:string property_value: alternative:term "NALP12" xsd:string property_value: alternative:term "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12" xsd:string property_value: alternative:term "PAN6" xsd:string property_value: alternative:term "PYPAF7" xsd:string property_value: alternative:term "RNO2" xsd:string property_value: symbol "NLRP12" xsd:string [Term] id: Orphanet:138366 name: fms-related tyrosine kinase 3 xref: ENSEMBL:ENSG00000122025 xref: GENATLAS:FLT3 xref: HGNC:3765 xref: IUPHAR:1807 xref: OMIM:136351 xref: UNIPROTKB/SWISSPROT:P36888 is_a: Orphanet:C010 ! gene relationship: Orphanet:317344 Orphanet:517 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Acute myelomonocytic leukemia relationship: Orphanet:317344 Orphanet:98832 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Minimally differentiated acute myeloblastic leukemia relationship: Orphanet:317344 Orphanet:98833 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Acute myeloblastic leukemia without maturation relationship: Orphanet:317344 Orphanet:98834 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Acute myeloblastic leukemia with maturation relationship: Orphanet:317344 Orphanet:98837 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute biphenotypic leukemia relationship: Orphanet:317344 Orphanet:99860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor B-cell acute lymphoblastic leukemia relationship: Orphanet:317344 Orphanet:99861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor T-cell acute lymphoblastic leukemia relationship: Orphanet:317347 Orphanet:102724 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute myeloid leukemia with t(8;21)(q22;q22) translocation relationship: Orphanet:317347 Orphanet:98829 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) property_value: alternative:term "CD135" xsd:string property_value: alternative:term "FLK2" xsd:string property_value: alternative:term "STK1" xsd:string property_value: symbol "FLT3" xsd:string [Term] id: Orphanet:138376 name: platelet-derived growth factor receptor, beta polypeptide xref: ENSEMBL:ENSG00000113721 xref: GENATLAS:PDGFRB xref: HGNC:8804 xref: IUPHAR:1804 xref: OMIM:173410 xref: REACTOME:P09619 xref: UNIPROTKB/SWISSPROT:P09619 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1980 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bilateral striopallidodentate calcinosis relationship: Orphanet:317343 Orphanet:2591 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile myofibromatosis relationship: Orphanet:317348 Orphanet:168950 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myeloid neoplasm associated with PDGFRB rearrangement relationship: Orphanet:317348 Orphanet:3260 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Idiopathic hypereosinophilic syndrome relationship: Orphanet:317348 Orphanet:86830 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Unclassified chronic myeloproliferative disease relationship: Orphanet:317348 Orphanet:98823 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chronic myelomonocytic leukemia property_value: alternative:term "CD140b" xsd:string property_value: alternative:term "JTK12" xsd:string property_value: alternative:term "PDGFR" xsd:string property_value: alternative:term "PDGFR1" xsd:string property_value: symbol "PDGFRB" xsd:string [Term] id: Orphanet:138383 name: LIM homeobox 4 xref: ENSEMBL:ENSG00000121454 xref: GENATLAS:LHX4 xref: HGNC:21734 xref: OMIM:602146 xref: UNIPROTKB/SWISSPROT:Q969G2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:226307 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypothyroidism due to deficient transcription factors involved in pituitary development or function relationship: Orphanet:317343 Orphanet:85442 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Short stature - pituitary and cerebellar defects - small sella turcica relationship: Orphanet:317343 Orphanet:95496 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pituitary stalk interruption syndrome property_value: alternative:term "Gsh4" xsd:string property_value: symbol "LHX4" xsd:string [Term] id: Orphanet:138386 name: SRY (sex determining region Y)-box 3 xref: ENSEMBL:ENSG00000134595 xref: GENATLAS:SOX3 xref: HGNC:11199 xref: OMIM:313430 xref: UNIPROTKB/SWISSPROT:P41225 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3157 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Septo-optic dysplasia relationship: Orphanet:317343 Orphanet:393 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XX testicular disorder of sex development relationship: Orphanet:317343 Orphanet:67045 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked intellectual deficit with isolated growth hormone deficiency relationship: Orphanet:317343 Orphanet:79495 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked congenital generalized hypertrichosis relationship: Orphanet:317343 Orphanet:90695 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Panhypopituitarism property_value: alternative:term "Panhypopituitarism" xsd:string property_value: alternative:term "PHP" xsd:string property_value: symbol "SOX3" xsd:string [Term] id: Orphanet:138447 name: Fanconi anemia, complementation group I xref: ENSEMBL:ENSG00000140525 xref: GENATLAS:FANCI xref: HGNC:25568 xref: OMIM:611360 xref: REACTOME:Q9NVI1 xref: UNIPROTKB/SWISSPROT:Q9NVI1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:84 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fanconi anemia property_value: alternative:term "FLJ10719" xsd:string property_value: alternative:term "KIAA1794" xsd:string property_value: symbol "FANCI" xsd:string [Term] id: Orphanet:138451 name: telomerase reverse transcriptase xref: ENSEMBL:ENSG00000164362 xref: GENATLAS:TERT xref: HGNC:11730 xref: OMIM:187270 xref: REACTOME:O14746 xref: UNIPROTKB/SWISSPROT:O14746 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1775 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dyskeratosis congenita relationship: Orphanet:317343 Orphanet:3322 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hoyeraal-Hreidarsson syndrome relationship: Orphanet:317345 Orphanet:2032 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic pulmonary fibrosis relationship: Orphanet:317345 Orphanet:618 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial melanoma relationship: Orphanet:317345 Orphanet:88 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic aplastic anemia property_value: alternative:term "EST2" xsd:string property_value: alternative:term "hEST2" xsd:string property_value: alternative:term "TCS1" xsd:string property_value: alternative:term "TP2" xsd:string property_value: alternative:term "TRT" xsd:string property_value: symbol "TERT" xsd:string [Term] id: Orphanet:138457 name: telomerase RNA component xref: ENSEMBL:ENSG00000200182 xref: GENATLAS:TERC xref: HGNC:11727 xref: OMIM:602322 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1775 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dyskeratosis congenita relationship: Orphanet:317345 Orphanet:2032 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic pulmonary fibrosis relationship: Orphanet:317345 Orphanet:88 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic aplastic anemia property_value: alternative:term "hTR" xsd:string property_value: alternative:term "SCARNA19" xsd:string property_value: alternative:term "small Cajal body-specific RNA 19" xsd:string property_value: alternative:term "TR" xsd:string property_value: alternative:term "TRC3" xsd:string property_value: symbol "TERC" xsd:string [Term] id: Orphanet:138462 name: interleukin 6 (interferon, beta 2) xref: ENSEMBL:ENSG00000136244 xref: GENATLAS:IL6 xref: HGNC:6018 xref: OMIM:147620 xref: REACTOME:P05231 xref: UNIPROTKB/SWISSPROT:P05231 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:85414 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Systemic-onset juvenile idiopathic arthritis property_value: alternative:term "BSF2" xsd:string property_value: alternative:term "HGF" xsd:string property_value: alternative:term "HSF" xsd:string property_value: alternative:term "IFBN2" xsd:string property_value: alternative:term "IFNB2" xsd:string property_value: alternative:term "IL-6" xsd:string property_value: symbol "IL6" xsd:string [Term] id: Orphanet:138467 name: nucleoporin 62kDa xref: ENSEMBL:ENSG00000213024 xref: GENATLAS:NUP62 xref: HGNC:8066 xref: OMIM:605815 xref: REACTOME:P37198 xref: UNIPROTKB/SWISSPROT:P37198 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:225154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial infantile bilateral striatal necrosis property_value: alternative:term "DKFZp547L134" xsd:string property_value: alternative:term "FLJ20822" xsd:string property_value: alternative:term "FLJ43869" xsd:string property_value: alternative:term "IBSN" xsd:string property_value: alternative:term "MGC841" xsd:string property_value: alternative:term "nuclear pore glycoprotein p62" xsd:string property_value: alternative:term "Nucleoporin 62 KDa" xsd:string property_value: alternative:term "nucleoporin 62kD" xsd:string property_value: alternative:term "p62" xsd:string property_value: alternative:term "SNDI" xsd:string property_value: symbol "NUP62" xsd:string [Term] id: Orphanet:138472 name: SIX homeobox 5 xref: ENSEMBL:ENSG00000177045 xref: GENATLAS:SIX5 xref: HGNC:10891 xref: OMIM:600963 xref: UNIPROTKB/SWISSPROT:Q8N196 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:107 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! BOR syndrome property_value: alternative:term "DMAHP" xsd:string property_value: alternative:term "sine oculis homeobox (Drosophila) homolog 5" xsd:string property_value: alternative:term "sine oculis homeobox homolog 5 (Drosophila)" xsd:string property_value: symbol "SIX5" xsd:string [Term] id: Orphanet:138475 name: patatin-like phospholipase domain containing 2 xref: ENSEMBL:ENSG00000177666 xref: GENATLAS:PNPLA2 xref: HGNC:30802 xref: OMIM:609059 xref: REACTOME:Q96AD5 xref: UNIPROTKB/SWISSPROT:Q96AD5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98908 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neutral lipid storage myopathy property_value: alternative:term "ATGL" xsd:string property_value: alternative:term "desnutrin" xsd:string property_value: alternative:term "FP17548" xsd:string property_value: alternative:term "iPLA2zeta" xsd:string property_value: alternative:term "TTS-2.2" xsd:string property_value: symbol "PNPLA2" xsd:string [Term] id: Orphanet:138480 name: structural maintenance of chromosomes 3 xref: ENSEMBL:ENSG00000108055 xref: GENATLAS:SMC3 xref: HGNC:2468 xref: OMIM:606062 xref: REACTOME:Q9UQE7 xref: UNIPROTKB/SWISSPROT:Q9UQE7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:199 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cornelia de Lange syndrome property_value: alternative:term "BAM" xsd:string property_value: alternative:term "Bamacan" xsd:string property_value: alternative:term "bamacan proteoglycan" xsd:string property_value: alternative:term "chondroitin sulfate proteoglycan 6 (bamacan)" xsd:string property_value: alternative:term "CSPG6" xsd:string property_value: alternative:term "HCAP" xsd:string property_value: alternative:term "SMC3L1" xsd:string property_value: symbol "SMC3" xsd:string [Term] id: Orphanet:138486 name: mediator complex subunit 12 xref: ENSEMBL:ENSG00000184634 xref: GENATLAS:MED12 xref: HGNC:11957 xref: OMIM:300188 xref: REACTOME:Q93074 xref: UNIPROTKB/SWISSPROT:Q93074 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:293707 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Blepharophimosis-intellectual deficit syndrome, MKB type relationship: Orphanet:317343 Orphanet:776 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked intellectual deficit with marfanoid habitus relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit property_value: alternative:term "CAGH45" xsd:string property_value: alternative:term "FG syndrome 1" xsd:string property_value: alternative:term "FGS1" xsd:string property_value: alternative:term "HOPA" xsd:string property_value: alternative:term "KIAA0192" xsd:string property_value: alternative:term "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "OKS" xsd:string property_value: alternative:term "OPA1" xsd:string property_value: alternative:term "TNRC11" xsd:string property_value: alternative:term "TRAP230" xsd:string property_value: alternative:term "trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)" xsd:string property_value: symbol "MED12" xsd:string [Term] id: Orphanet:138499 name: CD96 molecule xref: ENSEMBL:ENSG00000153283 xref: GENATLAS:CD96 xref: HGNC:16892 xref: OMIM:606037 xref: REACTOME:P40200 xref: UNIPROTKB/SWISSPROT:P40200 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1308 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! C syndrome property_value: alternative:term "CD96 antigen" xsd:string property_value: alternative:term "TACTILE" xsd:string property_value: symbol "CD96" xsd:string [Term] id: Orphanet:138503 name: gap junction protein, alpha 5, 40kDa xref: ENSEMBL:ENSG00000143140 xref: GENATLAS:GJA5 xref: HGNC:4279 xref: OMIM:121013 xref: REACTOME:P36382 xref: UNIPROTKB/SWISSPROT:P36382 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1344 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atrial stand still relationship: Orphanet:317343 Orphanet:334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial atrial fibrillation relationship: Orphanet:317345 Orphanet:3303 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Tetralogy of Fallot property_value: alternative:term "connexin 40" xsd:string property_value: alternative:term "CX40" xsd:string property_value: alternative:term "gap junction protein, alpha 5, 40kD (connexin 40)" xsd:string property_value: alternative:term "gap junction protein, alpha 5, 40kDa (connexin 40)" xsd:string property_value: symbol "GJA5" xsd:string [Term] id: Orphanet:138509 name: family with sequence similarity 20, member C xref: ENSEMBL:ENSG00000177706 xref: GENATLAS:FAM20C xref: HGNC:22140 xref: OMIM:611061 xref: UNIPROTKB/SWISSPROT:Q8IXL6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1832 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lethal osteosclerotic bone dysplasia property_value: alternative:term "dentin matrix protein 4" xsd:string property_value: alternative:term "DKFZp547D065" xsd:string property_value: alternative:term "DMP4" xsd:string property_value: alternative:term IMAGE:4942737 xsd:string property_value: symbol "FAM20C" xsd:string [Term] id: Orphanet:138514 name: SATB homeobox 2 xref: ENSEMBL:ENSG00000119042 xref: GENATLAS:SATB2 xref: HGNC:21637 xref: OMIM:608148 xref: UNIPROTKB/SWISSPROT:Q9UPW6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:251019 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 2q32q33 microdeletion syndrome relationship: Orphanet:317349 Orphanet:251028 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 2q33.1 microdeletion syndrome property_value: alternative:term "FLJ21474" xsd:string property_value: alternative:term "KIAA1034" xsd:string property_value: alternative:term "SATB family member 2" xsd:string property_value: symbol "SATB2" xsd:string [Term] id: Orphanet:138516 name: GLI family zinc finger 2 xref: ENSEMBL:ENSG00000074047 xref: GENATLAS:GLI2 xref: HGNC:4318 xref: OMIM:165230 xref: UNIPROTKB/SWISSPROT:P10070 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220386 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Semilobar holoprosencephaly relationship: Orphanet:317343 Orphanet:280195 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Septopreoptic holoprosencephaly relationship: Orphanet:317343 Orphanet:280200 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microform holoprosencephaly relationship: Orphanet:317343 Orphanet:93924 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93925 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93926 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Midline interhemispheric variant of holoprosencephaly relationship: Orphanet:317343 Orphanet:95494 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined pituitary hormone deficiencies, genetic forms property_value: alternative:term "GLI-Kruppel family member GLI2" xsd:string property_value: alternative:term "glioma-associated oncogene family zinc finger 2" xsd:string property_value: alternative:term "HPE9" xsd:string property_value: alternative:term "tax helper protein 1" xsd:string property_value: alternative:term "tax helper protein 2" xsd:string property_value: alternative:term "tax-responsive element-2 holding protein" xsd:string property_value: alternative:term "THP1" xsd:string property_value: alternative:term "THP2" xsd:string property_value: symbol "GLI2" xsd:string [Term] id: Orphanet:138518 name: teratocarcinoma-derived growth factor 1 xref: ENSEMBL:ENSG00000241186 xref: GENATLAS:TDGF1 xref: HGNC:11701 xref: OMIM:187395 xref: REACTOME:P13385 xref: UNIPROTKB/SWISSPROT:P13385 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220386 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Semilobar holoprosencephaly relationship: Orphanet:317343 Orphanet:280195 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Septopreoptic holoprosencephaly relationship: Orphanet:317343 Orphanet:280200 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microform holoprosencephaly relationship: Orphanet:317343 Orphanet:93924 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93925 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93926 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Midline interhemispheric variant of holoprosencephaly property_value: alternative:term "CR" xsd:string property_value: alternative:term "CRIPTO" xsd:string property_value: alternative:term "Cripto-1" xsd:string property_value: symbol "TDGF1" xsd:string [Term] id: Orphanet:138523 name: signal transducer and activator of transcription 3 (acute-phase response factor) xref: ENSEMBL:ENSG00000168610 xref: GENATLAS:STAT3 xref: HGNC:11364 xref: OMIM:102582 xref: REACTOME:P40763 xref: UNIPROTKB/SWISSPROT:P40763 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2314 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant hyper-IgE syndrome property_value: alternative:term "APRF" xsd:string property_value: symbol "STAT3" xsd:string [Term] id: Orphanet:138526 name: stimulated by retinoic acid 6 xref: ENSEMBL:ENSG00000137868 xref: GENATLAS:STRA6 xref: HGNC:30650 xref: OMIM:610745 xref: REACTOME:Q9BX79 xref: UNIPROTKB/SWISSPROT:Q9BX79 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2470 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Matthew-Wood syndrome relationship: Orphanet:317343 Orphanet:98938 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Colobomatous microphthalmia property_value: alternative:term "FLJ12541" xsd:string property_value: alternative:term "stimulated by retinoic acid 6 homolog (mouse)" xsd:string property_value: alternative:term "Stimulated by retinoic acid gene 6 homolog (mouse)" xsd:string property_value: symbol "STRA6" xsd:string [Term] id: Orphanet:138530 name: renin xref: ENSEMBL:ENSG00000143839 xref: GENATLAS:REN xref: HGNC:9958 xref: IUPHAR:2413 xref: OMIM:179820 xref: REACTOME:P00797 xref: UNIPROTKB/SWISSPROT:P00797 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:217330 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperuricemia - anemia - renal failure relationship: Orphanet:317343 Orphanet:97369 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Renal tubular dysgenesis of genetic origin property_value: symbol "REN" xsd:string [Term] id: Orphanet:138533 name: angiotensin II receptor, type 1 xref: ENSEMBL:ENSG00000144891 xref: GENATLAS:AGTR1 xref: HGNC:336 xref: IUPHAR:34 xref: OMIM:106165 xref: REACTOME:P30556 xref: UNIPROTKB/SWISSPROT:P30556 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:97369 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Renal tubular dysgenesis of genetic origin property_value: alternative:term "AG2S" xsd:string property_value: alternative:term "AGTR1A" xsd:string property_value: alternative:term "AGTR1B" xsd:string property_value: alternative:term "angiotensin receptor 1B" xsd:string property_value: alternative:term "AT1" xsd:string property_value: alternative:term "AT1B" xsd:string property_value: alternative:term "AT2R1" xsd:string property_value: alternative:term "AT2R1A" xsd:string property_value: alternative:term "AT2R1B" xsd:string property_value: alternative:term "HAT1R" xsd:string property_value: symbol "AGTR1" xsd:string [Term] id: Orphanet:138543 name: spermine synthase xref: ENSEMBL:ENSG00000102172 xref: GENATLAS:SMS xref: HGNC:11123 xref: OMIM:300105 xref: REACTOME:P52788 xref: UNIPROTKB/SWISSPROT:P52788 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3063 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intellectual deficit, X-linked, Snyder type property_value: alternative:term "MRSR" xsd:string property_value: alternative:term "Snyder-Robinson X-linked mental retardation syndrome" xsd:string property_value: alternative:term "SPMSY" xsd:string property_value: alternative:term "SpS" xsd:string property_value: alternative:term "SRS" xsd:string property_value: symbol "SMS" xsd:string [Term] id: Orphanet:138557 name: VANGL planar cell polarity protein 1 xref: ENSEMBL:ENSG00000173218 xref: GENATLAS:VANGL1 xref: HGNC:15512 xref: OMIM:610132 xref: UNIPROTKB/SWISSPROT:Q8TAA9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:1768 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial caudal dysgenesis relationship: Orphanet:317345 Orphanet:268377 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Total spina bifida aperta relationship: Orphanet:317345 Orphanet:268384 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thoracolumbosacral spina bifida aperta relationship: Orphanet:317345 Orphanet:268388 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lumbosacral spina bifida aperta relationship: Orphanet:317345 Orphanet:268392 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervical spina bifida aperta relationship: Orphanet:317345 Orphanet:268397 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervicothoracic spina bifida aperta relationship: Orphanet:317345 Orphanet:268740 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Upper thoracic spina bifida aperta relationship: Orphanet:317345 Orphanet:268748 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Total spina bifida cystica relationship: Orphanet:317345 Orphanet:268752 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thoracolumbosacral spina bifida cystica relationship: Orphanet:317345 Orphanet:268758 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lumbosacral spina bifida cystica relationship: Orphanet:317345 Orphanet:268762 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervical spina bifida cystica relationship: Orphanet:317345 Orphanet:268766 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervicothoracic spina bifida cystica relationship: Orphanet:317345 Orphanet:268770 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Upper thoracic spina bifida cystica relationship: Orphanet:317345 Orphanet:3027 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Caudal regression sequence property_value: alternative:term "STB2" xsd:string property_value: alternative:term "vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)" xsd:string property_value: alternative:term "Vang-like 1 (van gogh, Drosophila)" xsd:string property_value: symbol "VANGL1" xsd:string [Term] id: Orphanet:138561 name: methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 xref: ENSEMBL:ENSG00000100714 xref: GENATLAS:MTHFD1 xref: HGNC:7432 xref: OMIM:172460 xref: REACTOME:P11586 xref: UNIPROTKB/SWISSPROT:P11586 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:268377 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Total spina bifida aperta relationship: Orphanet:317345 Orphanet:268384 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thoracolumbosacral spina bifida aperta relationship: Orphanet:317345 Orphanet:268388 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lumbosacral spina bifida aperta relationship: Orphanet:317345 Orphanet:268392 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervical spina bifida aperta relationship: Orphanet:317345 Orphanet:268397 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervicothoracic spina bifida aperta relationship: Orphanet:317345 Orphanet:268740 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Upper thoracic spina bifida aperta relationship: Orphanet:317345 Orphanet:268748 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Total spina bifida cystica relationship: Orphanet:317345 Orphanet:268752 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thoracolumbosacral spina bifida cystica relationship: Orphanet:317345 Orphanet:268758 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lumbosacral spina bifida cystica relationship: Orphanet:317345 Orphanet:268762 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervical spina bifida cystica relationship: Orphanet:317345 Orphanet:268766 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervicothoracic spina bifida cystica relationship: Orphanet:317345 Orphanet:268770 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Upper thoracic spina bifida cystica property_value: alternative:term "formyltetrahydrofolate synthetase" xsd:string property_value: alternative:term "methenyltetrahydrofolate cyclohydrolase" xsd:string property_value: alternative:term "methylenetetrahydrofolate dehydrogenase 1" xsd:string property_value: alternative:term "MTHFC" xsd:string property_value: alternative:term "MTHFD" xsd:string property_value: symbol "MTHFD1" xsd:string [Term] id: Orphanet:138568 name: amnion associated transmembrane protein xref: ENSEMBL:ENSG00000166126 xref: GENATLAS:AMN xref: HGNC:14604 xref: OMIM:605799 xref: REACTOME:Q9BXJ7 xref: UNIPROTKB/SWISSPROT:Q9BXJ7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:35858 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gräsbeck-Imerslund disease property_value: alternative:term "amnionless" xsd:string property_value: alternative:term "Amnionless homolog (mouse)" xsd:string property_value: symbol "AMN" xsd:string [Term] id: Orphanet:138570 name: FYVE, RhoGEF and PH domain containing 4 xref: ENSEMBL:ENSG00000139132 xref: GENATLAS:FGD4 xref: HGNC:19125 xref: OMIM:611104 xref: REACTOME:Q96M96 xref: UNIPROTKB/SWISSPROT:Q96M96 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99954 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Charcot-Marie-Tooth disease type 4H property_value: alternative:term "CMT4H" xsd:string property_value: alternative:term "FGD1 family, member 4" xsd:string property_value: alternative:term "Frabin" xsd:string property_value: alternative:term "FRABP" xsd:string property_value: alternative:term "ZFYVE6" xsd:string property_value: symbol "FGD4" xsd:string [Term] id: Orphanet:138575 name: C1q and tumor necrosis factor related protein 5 xref: ENSEMBL:ENSG00000223953 xref: GENATLAS:C1QTNF5 xref: HGNC:14344 xref: OMIM:608752 xref: UNIPROTKB/SWISSPROT:Q9BXJ0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:67042 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Late-onset retinal degeneration property_value: alternative:term "complement C1q tumor necrosis factor-related protein 5 precursor variant 3" xsd:string property_value: alternative:term "complement-c1q tumor necrosis factor-related protein 5" xsd:string property_value: alternative:term "CTRP5" xsd:string property_value: alternative:term "DKFZp586B0621" xsd:string property_value: alternative:term "LORD" xsd:string property_value: symbol "C1QTNF5" xsd:string [Term] id: Orphanet:138578 name: insulin-like growth factor 1 receptor xref: ENSEMBL:ENSG00000140443 xref: GENATLAS:IGF1R xref: HGNC:5465 xref: IUPHAR:1801 xref: OMIM:147370 xref: REACTOME:P08069 xref: UNIPROTKB/SWISSPROT:P08069 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:73273 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Growth delay due to insulin-like growth factor I resistance property_value: alternative:term "CD221" xsd:string property_value: alternative:term "IGFIR" xsd:string property_value: alternative:term "IGFR" xsd:string property_value: alternative:term "JTK13" xsd:string property_value: alternative:term "MGC18216" xsd:string property_value: symbol "IGF1R" xsd:string [Term] id: Orphanet:138583 name: PHD finger protein 8 xref: ENSEMBL:ENSG00000172943 xref: GENATLAS:PHF8 xref: HGNC:20672 xref: OMIM:300560 xref: REACTOME:Q9UPP1 xref: UNIPROTKB/SWISSPROT:Q9UPP1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:85287 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intellectual deficit, X-linked, Siderius type property_value: alternative:term "JHDM1F" xsd:string property_value: alternative:term "jumonji C domain-containing histone demethylase 1F" xsd:string property_value: alternative:term "KIAA1111" xsd:string property_value: alternative:term "ZNF422" xsd:string property_value: symbol "PHF8" xsd:string [Term] id: Orphanet:138671 name: hemoglobin, alpha 1 xref: ENSEMBL:ENSG00000206172 xref: GENATLAS:HBA1 xref: HGNC:4823 xref: OMIM:141800 xref: REACTOME:P69905 xref: UNIPROTKB/SWISSPROT:P69905 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:163596 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hb Bart's hydrops fetalis relationship: Orphanet:317343 Orphanet:330041 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant methemoglobinemia relationship: Orphanet:317343 Orphanet:93616 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemoglobin H disease relationship: Orphanet:317349 Orphanet:98791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 property_value: symbol "HBA1" xsd:string [Term] id: Orphanet:138681 name: split hand/foot malformation (ectrodactyly) type 1 xref: ENSEMBL:ENSG00000127922 xref: GENATLAS:SHFM1 xref: HGNC:10845 xref: OMIM:601285 xref: UNIPROTKB/SWISSPROT:P60896 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2440 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Split hand-split foot malformation property_value: alternative:term "deleted in split-hand/foot 1" xsd:string property_value: alternative:term "DSS1" xsd:string property_value: alternative:term "ECD" xsd:string property_value: alternative:term "SEM1" xsd:string property_value: alternative:term "SHFD1" xsd:string property_value: alternative:term "Shfdg1" xsd:string property_value: alternative:term "SHSF1" xsd:string property_value: symbol "SHFM1" xsd:string [Term] id: Orphanet:1387 name: Cataract - intellectual deficit - hypogonadism xref: ICD10:Q87.8 xref: OMIM:212720 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:181387 ! Syndrome with hypogonadotropic hypogonadism relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:98641 ! Syndromic cataract property_value: alternative:term "Martsolf syndrome" xsd:string [Term] id: Orphanet:138702 name: retina and anterior neural fold homeobox 2 xref: ENSEMBL:ENSG00000173976 xref: GENATLAS:RAX2 xref: HGNC:18286 xref: OMIM:610362 xref: UNIPROTKB/SWISSPROT:Q96IS3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone rod dystrophy property_value: alternative:term "ARMD6" xsd:string property_value: alternative:term "CORD11" xsd:string property_value: alternative:term "MGC15631" xsd:string property_value: alternative:term "RAXL1" xsd:string property_value: alternative:term "retina and anterior neural fold homeobox like 1" xsd:string property_value: symbol "RAX2" xsd:string [Term] id: Orphanet:138706 name: HtrA serine peptidase 1 xref: ENSEMBL:ENSG00000166033 xref: GENATLAS:HTRA1 xref: HGNC:9476 xref: OMIM:602194 xref: UNIPROTKB/SWISSPROT:Q92743 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:199354 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CARASIL property_value: alternative:term "ARMD7" xsd:string property_value: alternative:term "HtrA" xsd:string property_value: alternative:term "IGFBP5-protease" xsd:string property_value: alternative:term "protease, serine, 11 (IGF binding)" xsd:string property_value: alternative:term "PRSS11" xsd:string property_value: symbol "HTRA1" xsd:string [Term] id: Orphanet:138711 name: KCNQ1 opposite strand/antisense transcript 1 (non-protein coding) xref: ENSEMBL:ENSG00000269821 xref: GENATLAS:KCNQ1OT1 xref: HGNC:6295 xref: OMIM:604115 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2128 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemihypertrophy relationship: Orphanet:317343 Orphanet:231117 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 relationship: Orphanet:317349 Orphanet:231127 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Beckwith-Wiedemann syndrome due to 11p15 microdeletion property_value: alternative:term "KCNQ1 antisense RNA 2 (non-protein coding)" xsd:string property_value: alternative:term "KCNQ1 overlapping transcript 1 (non-protein coding)" xsd:string property_value: alternative:term "KCNQ1-AS2" xsd:string property_value: alternative:term "KvDMR1" xsd:string property_value: alternative:term "KvLQT1-AS" xsd:string property_value: alternative:term "LIT1" xsd:string property_value: alternative:term "NCRNA00012" xsd:string property_value: alternative:term "non-protein coding RNA 12" xsd:string property_value: symbol "KCNQ1OT1" xsd:string [Term] id: Orphanet:138719 name: cytochrome b-245, alpha polypeptide xref: ENSEMBL:ENSG00000051523 xref: GENATLAS:CYBA xref: HGNC:2577 xref: OMIM:608508 xref: REACTOME:P13498 xref: UNIPROTKB/SWISSPROT:P13498 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:379 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chronic granulomatous disease property_value: alternative:term "flavocytochrome b-558 alpha polypeptide" xsd:string property_value: alternative:term "p22-PHOX" xsd:string property_value: symbol "CYBA" xsd:string [Term] id: Orphanet:138722 name: v-raf-1 murine leukemia viral oncogene homolog 1 xref: ENSEMBL:ENSG00000132155 xref: GENATLAS:RAF1 xref: HGNC:9829 xref: IUPHAR:2184 xref: OMIM:164760 xref: REACTOME:P04049 xref: UNIPROTKB/SWISSPROT:P04049 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:500 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! LEOPARD syndrome relationship: Orphanet:317343 Orphanet:648 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Noonan syndrome relationship: Orphanet:317348 Orphanet:251612 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pilocytic astrocytoma property_value: alternative:term "c-Raf" xsd:string property_value: alternative:term "CRAF" xsd:string property_value: alternative:term "Raf-1" xsd:string property_value: symbol "RAF1" xsd:string [Term] id: Orphanet:138732 name: X-linked inhibitor of apoptosis xref: ENSEMBL:ENSG00000101966 xref: GENATLAS:XIAP xref: HGNC:592 xref: OMIM:300079 xref: REACTOME:P98170 xref: UNIPROTKB/SWISSPROT:P98170 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2442 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked lymphoproliferative disease property_value: alternative:term "API3" xsd:string property_value: alternative:term "Baculoviral IAP repeat-containing 4" xsd:string property_value: alternative:term "BIRC4" xsd:string property_value: alternative:term "hILP" xsd:string property_value: symbol "XIAP" xsd:string [Term] id: Orphanet:138742 name: RNA component of mitochondrial RNA processing endoribonuclease xref: ENSEMBL:ENSG00000199916 xref: GENATLAS:RMRP xref: HGNC:10031 xref: OMIM:157660 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:175 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cartilage-hair hypoplasia relationship: Orphanet:317343 Orphanet:39041 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Omenn syndrome relationship: Orphanet:317343 Orphanet:93347 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Anauxetic dysplasia property_value: alternative:term "cartilage-hair hypoplasia" xsd:string property_value: alternative:term "CHH" xsd:string property_value: alternative:term "NME1" xsd:string property_value: alternative:term "RMRPR" xsd:string property_value: alternative:term "RRP2" xsd:string property_value: symbol "RMRP" xsd:string [Term] id: Orphanet:1388 name: Catel-Manzke syndrome xref: ICD10:Q87.8 xref: MESH:C535347 xref: OMIM:302380 xref: UMLS:C1844887 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome" xsd:string property_value: alternative:term "Index finger anomaly - Pierre Robin syndrome" xsd:string property_value: alternative:term "Micrognathia digital syndrome" xsd:string property_value: alternative:term "Palatodigital syndrome, Catel-Manzke type" xsd:string property_value: alternative:term "Pierre Robin sequence - hyperphalangy - clinodactyly" xsd:string property_value: alternative:term "Pierre Robin syndrome - hyperphalangy - clinodactyly" xsd:string property_value: alternative:term "Pierre Robin syndrome with hyperphalangy and clinodactyly" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis." xsd:string [Term] id: Orphanet:138820 name: motor neuron and pancreas homeobox 1 xref: ENSEMBL:ENSG00000130675 xref: GENATLAS:MNX1 xref: HGNC:4979 xref: OMIM:142994 xref: UNIPROTKB/SWISSPROT:P50219 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1552 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Currarino triad property_value: alternative:term "HB9" xsd:string property_value: alternative:term "HLXB9" xsd:string property_value: alternative:term "homeo box HB9" xsd:string property_value: alternative:term "homeobox HB9" xsd:string property_value: alternative:term "HOXHB9" xsd:string property_value: alternative:term "SCRA1" xsd:string property_value: symbol "MNX1" xsd:string [Term] id: Orphanet:138829 name: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit xref: ENSEMBL:ENSG00000138029 xref: GENATLAS:HADHB xref: HGNC:4803 xref: OMIM:143450 xref: REACTOME:P55084 xref: UNIPROTKB/SWISSPROT:P55084 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:746 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial trifunctional protein deficiency property_value: alternative:term "Hydroxyacyl-Coenzyme A dehydrogenase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit" xsd:string property_value: alternative:term "mitochondrial trifunctional protein, beta subunit" xsd:string property_value: alternative:term "MTPB" xsd:string property_value: symbol "HADHB" xsd:string [Term] id: Orphanet:138831 name: actin, alpha 2, smooth muscle, aorta xref: ENSEMBL:ENSG00000107796 xref: GENATLAS:ACTA2 xref: HGNC:130 xref: OMIM:102620 xref: REACTOME:P62736 xref: UNIPROTKB/SWISSPROT:P62736 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:91387 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial thoracic aortic aneurysm and aortic dissection relationship: Orphanet:317345 Orphanet:2573 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Moyamoya disease property_value: alternative:term "ACTSA" xsd:string property_value: symbol "ACTA2" xsd:string [Term] id: Orphanet:138843 name: leucine proline-enriched proteoglycan (leprecan) 1 xref: ENSEMBL:ENSG00000117385 xref: GENATLAS:LEPRE1 xref: HGNC:19316 xref: OMIM:610339 xref: REACTOME:Q32P28 xref: UNIPROTKB/SWISSPROT:Q32P28 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:216804 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 2 relationship: Orphanet:317343 Orphanet:216812 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 3 property_value: alternative:term "GROS1" xsd:string property_value: alternative:term "growth suppressor 1" xsd:string property_value: alternative:term "LEPRECAN" xsd:string property_value: alternative:term "MGC117314" xsd:string property_value: alternative:term "P3H1" xsd:string property_value: alternative:term "prolyl 3-hydroxylase 1" xsd:string property_value: symbol "LEPRE1" xsd:string [Term] id: Orphanet:138847 name: cartilage associated protein xref: ENSEMBL:ENSG00000170275 xref: GENATLAS:CRTAP xref: HGNC:2379 xref: OMIM:605497 xref: REACTOME:O75718 xref: UNIPROTKB/SWISSPROT:O75718 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:216804 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 2 relationship: Orphanet:317343 Orphanet:216812 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 3 relationship: Orphanet:317343 Orphanet:216820 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 4 property_value: alternative:term "CASP" xsd:string property_value: alternative:term "leprecan-like 3" xsd:string property_value: alternative:term "LEPREL3" xsd:string property_value: symbol "CRTAP" xsd:string [Term] id: Orphanet:138851 name: caspase 8, apoptosis-related cysteine peptidase xref: ENSEMBL:ENSG00000064012 xref: GENATLAS:CASP8 xref: HGNC:1509 xref: IUPHAR:1624 xref: OMIM:601763 xref: REACTOME:Q14790 xref: UNIPROTKB/SWISSPROT:Q14790 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:275517 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autoimmune lymphoproliferative syndrome with recurrent infections property_value: alternative:term "Casp-8" xsd:string property_value: alternative:term "caspase 8, apoptosis-related cysteine protease" xsd:string property_value: alternative:term "FLICE" xsd:string property_value: alternative:term "MACH" xsd:string property_value: alternative:term "MCH5" xsd:string property_value: symbol "CASP8" xsd:string [Term] id: Orphanet:138895 name: mitochondrially encoded tRNA leucine 1 (UUA/G) xref: ENSEMBL:ENSG00000209082 xref: GENATLAS:MT-TL1 xref: HGNC:7490 xref: OMIM:590050 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:225 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited diabetes and deafness relationship: Orphanet:317343 Orphanet:255210 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited Leigh syndrome relationship: Orphanet:317343 Orphanet:324525 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation relationship: Orphanet:317343 Orphanet:480 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kearns-Sayre syndrome relationship: Orphanet:317343 Orphanet:550 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MELAS syndrome relationship: Orphanet:317343 Orphanet:551 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MERRF syndrome relationship: Orphanet:317343 Orphanet:663 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited progressive external ophthalmoplegia property_value: alternative:term "MTTL1" xsd:string property_value: alternative:term "tRNA leucine 1 (UUA/G)" xsd:string property_value: alternative:term "TRNL1" xsd:string property_value: symbol "MT-TL1" xsd:string [Term] id: Orphanet:1389 name: Cortical blindness - intellectual deficit - polydactyly xref: OMIM:218010 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:138900 name: mitochondrially encoded tRNA lysine xref: ENSEMBL:ENSG00000210156 xref: GENATLAS:MT-TK xref: HGNC:7489 xref: OMIM:590060 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1349 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited cardiomyopathy and hearing loss relationship: Orphanet:317343 Orphanet:225 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited diabetes and deafness relationship: Orphanet:317343 Orphanet:255210 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited Leigh syndrome relationship: Orphanet:317343 Orphanet:551 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MERRF syndrome property_value: alternative:term "MERRF" xsd:string property_value: alternative:term "MTTK" xsd:string property_value: alternative:term "tRNA lysine" xsd:string property_value: alternative:term "trnK" xsd:string property_value: symbol "MT-TK" xsd:string [Term] id: Orphanet:138902 name: mitochondrially encoded 12S RNA xref: ENSEMBL:ENSG00000211459 xref: GENATLAS:MT-RNR1 xref: HGNC:7470 xref: OMIM:561000 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:168609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure relationship: Orphanet:317343 Orphanet:90641 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial nonsyndromic sensorineural deafness relationship: Orphanet:327767 Orphanet:551 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MERRF syndrome property_value: alternative:term "12S RNA" xsd:string property_value: alternative:term "MTRNR1" xsd:string property_value: symbol "MT-RNR1" xsd:string [Term] id: Orphanet:138906 name: mitochondrially encoded tRNA glutamine xref: ENSEMBL:ENSG00000210107 xref: GENATLAS:MT-TQ xref: HGNC:7495 xref: OMIM:590030 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:550 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MELAS syndrome relationship: Orphanet:317343 Orphanet:551 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MERRF syndrome property_value: alternative:term "MTTQ" xsd:string property_value: alternative:term "tRNA glutamine" xsd:string property_value: alternative:term "trnQ" xsd:string property_value: symbol "MT-TQ" xsd:string [Term] id: Orphanet:139 name: CHILD syndrome xref: ICD10:Q87.8 xref: OMIM:308050 xref: SNOMED CT:17608003 xref: UMLS:C0265267 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139009 ! Developmental anomaly of metabolic origin relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:281210 ! X-linked ichthyosis syndrome relationship: part_of Orphanet:294057 ! Rare nevus relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:79195 ! Sterol biosynthesis disorder relationship: part_of Orphanet:93442 ! Chondrodysplasia punctata property_value: alternative:term "CHILD nevus" xsd:string property_value: alternative:term "Congenital hemidysplasia with ichthyosiform nevus and limbs defects" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies." xsd:string [Term] id: Orphanet:1390 name: Night blindness - skeletal anomalies - dysmorphism xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Hunter-Thompson-Reed syndrome" xsd:string [Term] id: Orphanet:139009 name: Developmental anomaly of metabolic origin is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis [Term] id: Orphanet:139012 name: Rare bone development disorder is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis property_value: alternative:term "Rare skeletal development disorder" xsd:string [Term] id: Orphanet:139021 name: Malformation syndrome with short stature is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis [Term] id: Orphanet:139024 name: Overgrowth/obesity syndrome is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis [Term] id: Orphanet:139027 name: Malformation syndrome with skin/mucosae involvement is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis [Term] id: Orphanet:139030 name: Malformation syndrome with connective tissue involvement is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis [Term] id: Orphanet:139033 name: Progeroid syndrome is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis [Term] id: Orphanet:139036 name: Branchial arch or oral-acral syndrome is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis [Term] id: Orphanet:139039 name: Orofacial clefting syndrome is_a: Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations [Term] id: Orphanet:139042 name: Malformation syndrome with odontal and/or periodontal component xref: ICD10:K00 is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis is_a: Orphanet:98026 ! Rare odontologic disease [Term] id: Orphanet:139106 name: protease, serine, 2 (trypsin 2) xref: ENSEMBL:ENSG00000262739 xref: GENATLAS:PRSS2 xref: HGNC:9483 xref: IUPHAR:2398 xref: OMIM:601564 xref: REACTOME:P07478 xref: UNIPROTKB/SWISSPROT:P07478 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:676 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary chronic pancreatitis property_value: alternative:term "TRY2" xsd:string property_value: symbol "PRSS2" xsd:string [Term] id: Orphanet:139109 name: chymotrypsin C (caldecrin) xref: ENSEMBL:ENSG00000162438 xref: GENATLAS:CTRC xref: HGNC:2523 xref: IUPHAR:2341 xref: OMIM:601405 xref: UNIPROTKB/SWISSPROT:Q99895 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:103918 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tropical pancreatitis relationship: Orphanet:327767 Orphanet:676 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary chronic pancreatitis property_value: alternative:term "CLCR" xsd:string property_value: alternative:term "ELA4" xsd:string property_value: alternative:term "elastase 4" xsd:string property_value: symbol "CTRC" xsd:string [Term] id: Orphanet:139142 name: aldo-keto reductase family 1, member D1 xref: ENSEMBL:ENSG00000122787 xref: GENATLAS:AKR1D1 xref: HGNC:388 xref: OMIM:604741 xref: REACTOME:P51857 xref: UNIPROTKB/SWISSPROT:P51857 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79303 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital bile acid synthesis defect type 2 property_value: alternative:term "Aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)" xsd:string property_value: alternative:term "delta 4-3-ketosteroid-5-beta-reductase" xsd:string property_value: alternative:term "SRD5B1" xsd:string property_value: alternative:term "SRDB5" xsd:string property_value: symbol "AKR1D1" xsd:string [Term] id: Orphanet:139145 name: B-cell CLL/lymphoma 11A (zinc finger protein) xref: ENSEMBL:ENSG00000119866 xref: GENATLAS:BCL11A xref: HGNC:13221 xref: OMIM:606557 xref: UNIPROTKB/SWISSPROT:Q9H165 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:46532 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary persistence of fetal hemoglobin - beta-thalassemia property_value: alternative:term "BCL11A-L" xsd:string property_value: alternative:term "BCL11A-S" xsd:string property_value: alternative:term "BCL11A-XL" xsd:string property_value: alternative:term "CTIP1" xsd:string property_value: alternative:term "ecotropic viral integration site 9" xsd:string property_value: alternative:term "Evi9" xsd:string property_value: alternative:term "HBFQTL5" xsd:string property_value: alternative:term "ZNF856" xsd:string property_value: symbol "BCL11A" xsd:string [Term] id: Orphanet:139150 name: bridging integrator 1 xref: ENSEMBL:ENSG00000136717 xref: GENATLAS:BIN1 xref: HGNC:1052 xref: OMIM:601248 xref: UNIPROTKB/SWISSPROT:O00499 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169186 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive centronuclear myopathy property_value: alternative:term "AMPH2" xsd:string property_value: alternative:term "amphiphysin II" xsd:string property_value: alternative:term "AMPHL" xsd:string property_value: alternative:term "SH3P9" xsd:string property_value: symbol "BIN1" xsd:string [Term] id: Orphanet:139158 name: charged multivesicular body protein 4B xref: ENSEMBL:ENSG00000101421 xref: GENATLAS:CHMP4B xref: HGNC:16171 xref: OMIM:610897 xref: REACTOME:Q9H444 xref: UNIPROTKB/SWISSPROT:Q9H444 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98993 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Posterior polar cataract property_value: alternative:term "C20orf178" xsd:string property_value: alternative:term "Chromatin modifying protein 4B" xsd:string property_value: alternative:term "chromosome 20 open reading frame 178" xsd:string property_value: alternative:term "dJ553F4.4" xsd:string property_value: alternative:term "Shax1" xsd:string property_value: alternative:term "SNF7-2" xsd:string property_value: alternative:term "VPS32B" xsd:string property_value: symbol "CHMP4B" xsd:string [Term] id: Orphanet:139163 name: excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) xref: ENSEMBL:ENSG00000012061 xref: GENATLAS:ERCC1 xref: HGNC:3433 xref: OMIM:126380 xref: REACTOME:P07992 xref: UNIPROTKB/SWISSPROT:P07992 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1466 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! COFS syndrome relationship: Orphanet:317343 Orphanet:90322 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cockayne syndrome type 2 property_value: alternative:term "RAD10" xsd:string property_value: symbol "ERCC1" xsd:string [Term] id: Orphanet:139165 name: ets variant 6 xref: ENSEMBL:ENSG00000139083 xref: GENATLAS:ETV6 xref: HGNC:3495 xref: OMIM:600618 xref: UNIPROTKB/SWISSPROT:P41212 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:2030 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fibrosarcoma relationship: Orphanet:317348 Orphanet:98823 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chronic myelomonocytic leukemia relationship: Orphanet:317348 Orphanet:99860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor B-cell acute lymphoblastic leukemia property_value: alternative:term "Ets variant gene 6 (TEL oncogene)" xsd:string property_value: alternative:term "TEL" xsd:string property_value: alternative:term "TEL oncogene" xsd:string property_value: symbol "ETV6" xsd:string [Term] id: Orphanet:139168 name: kallikrein-related peptidase 4 xref: ENSEMBL:ENSG00000167749 xref: GENATLAS:KLK4 xref: HGNC:6365 xref: IUPHAR:2374 xref: OMIM:603767 xref: UNIPROTKB/SWISSPROT:Q9Y5K2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100033 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypomaturation amelogenesis imperfecta property_value: alternative:term "EMSP" xsd:string property_value: alternative:term "EMSP1" xsd:string property_value: alternative:term "kallikrein 4 (prostase, enamel matrix, prostate)" xsd:string property_value: alternative:term "KLK-L1" xsd:string property_value: alternative:term "PRSS17" xsd:string property_value: alternative:term "PSTS" xsd:string property_value: symbol "KLK4" xsd:string [Term] id: Orphanet:139173 name: mesoderm posterior 2 homolog (mouse) xref: ENSEMBL:ENSG00000188095 xref: GENATLAS:MESP2 xref: HGNC:29659 xref: OMIM:605195 xref: UNIPROTKB/SWISSPROT:Q0VG99 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2311 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spondylocostal dysostosis property_value: alternative:term "bHLHc6" xsd:string property_value: alternative:term "Mesoderm posterior 2 homolog" xsd:string property_value: alternative:term "SCDO2" xsd:string property_value: symbol "MESP2" xsd:string [Term] id: Orphanet:139176 name: matrix metallopeptidase 20 xref: ENSEMBL:ENSG00000137674 xref: GENATLAS:MMP20 xref: HGNC:7167 xref: IUPHAR:1643 xref: OMIM:604629 xref: REACTOME:O60882 xref: UNIPROTKB/SWISSPROT:O60882 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100033 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypomaturation amelogenesis imperfecta property_value: alternative:term "enamelysin" xsd:string property_value: alternative:term "Matrix metallopeptidase 20 (enamelysin)" xsd:string property_value: alternative:term "matrix metalloproteinase 20 (enamelysin)" xsd:string property_value: symbol "MMP20" xsd:string [Term] id: Orphanet:139178 name: myotubularin related protein 14 xref: ENSEMBL:ENSG00000163719 xref: GENATLAS:MTMR14 xref: HGNC:26190 xref: OMIM:611089 xref: REACTOME:Q8NCE2 xref: UNIPROTKB/SWISSPROT:Q8NCE2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169189 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant centronuclear myopathy property_value: alternative:term "C3orf29" xsd:string property_value: alternative:term "chromosome 3 open reading frame 29" xsd:string property_value: alternative:term "egg-derived tyrosine phosphatase homolog (Drosophila)" xsd:string property_value: alternative:term "FLJ22405" xsd:string property_value: alternative:term "FLJ90311" xsd:string property_value: alternative:term "hEDTP" xsd:string property_value: alternative:term "hJumpy" xsd:string property_value: symbol "MTMR14" xsd:string [Term] id: Orphanet:139184 name: NLR family, pyrin domain containing 1 xref: ENSEMBL:ENSG00000091592 xref: GENATLAS:NLRP1 xref: HGNC:14374 xref: OMIM:606636 xref: REACTOME:Q9C000 xref: UNIPROTKB/SWISSPROT:Q9C000 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352662 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis relationship: Orphanet:317345 Orphanet:247871 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Vitiligo-associated autoimmune disease property_value: alternative:term "CARD7" xsd:string property_value: alternative:term "CLR17.1" xsd:string property_value: alternative:term "DEFCAP" xsd:string property_value: alternative:term "DKFZp586O1822" xsd:string property_value: alternative:term "KIAA0926" xsd:string property_value: alternative:term "NAC" xsd:string property_value: alternative:term "NACHT, leucine rich repeat and PYD (pyrin domain) containing 1" xsd:string property_value: alternative:term "NALP1" xsd:string property_value: alternative:term "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1" xsd:string property_value: symbol "NLRP1" xsd:string [Term] id: Orphanet:139187 name: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa xref: ENSEMBL:ENSG00000125356 xref: GENATLAS:NDUFA1 xref: HGNC:7683 xref: OMIM:300078 xref: REACTOME:O15239 xref: UNIPROTKB/SWISSPROT:O15239 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency property_value: alternative:term "CI-MWFE" xsd:string property_value: alternative:term "complex I MWFE subunit" xsd:string property_value: alternative:term "MWFE" xsd:string property_value: alternative:term "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)" xsd:string property_value: alternative:term "NADH:ubiquinone oxidoreductase (complex 1)" xsd:string property_value: alternative:term "type I dehydrogenase" xsd:string property_value: symbol "NDUFA1" xsd:string [Term] id: Orphanet:139189 name: partner and localizer of BRCA2 xref: ENSEMBL:ENSG00000083093 xref: GENATLAS:PALB2 xref: HGNC:26144 xref: OMIM:610355 xref: REACTOME:Q86YC2 xref: UNIPROTKB/SWISSPROT:Q86YC2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:145 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary breast and ovarian cancer syndrome relationship: Orphanet:317343 Orphanet:84 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fanconi anemia relationship: Orphanet:317345 Orphanet:1333 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial pancreatic carcinoma property_value: alternative:term "FANCN" xsd:string property_value: alternative:term "Fanconi anemia, complementation group N" xsd:string property_value: alternative:term "FLJ21816" xsd:string property_value: symbol "PALB2" xsd:string [Term] id: Orphanet:139193 name: solute carrier family 46 (folate transporter), member 1 xref: ENSEMBL:ENSG00000076351 xref: GENATLAS:SLC46A1 xref: HGNC:30521 xref: OMIM:611672 xref: REACTOME:Q96NT5 xref: UNIPROTKB/SWISSPROT:Q96NT5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90045 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary folate malabsorption property_value: alternative:term "HCP1" xsd:string property_value: alternative:term "heme carrier protein 1" xsd:string property_value: alternative:term "MGC9564" xsd:string property_value: alternative:term "PCFT" xsd:string property_value: alternative:term "proton-coupled folate transporter" xsd:string property_value: alternative:term "solute carrier family 46, member 1" xsd:string property_value: symbol "SLC46A1" xsd:string [Term] id: Orphanet:139197 name: solute carrier family 35 (CMP-sialic acid transporter), member A1 xref: ENSEMBL:ENSG00000164414 xref: GENATLAS:SLC35A1 xref: HGNC:11021 xref: OMIM:605634 xref: REACTOME:P78382 xref: UNIPROTKB/SWISSPROT:P78382 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:238459 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! SLC35A1-CDG property_value: alternative:term "CMPST" xsd:string property_value: alternative:term "hCST" xsd:string property_value: alternative:term "solute carrier family 35 (UDP-galactose transporter), member 1" xsd:string property_value: symbol "SLC35A1" xsd:string [Term] id: Orphanet:139199 name: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa xref: ENSEMBL:ENSG00000147133 xref: GENATLAS:TAF1 xref: HGNC:11535 xref: IUPHAR:2231 xref: OMIM:313650 xref: REACTOME:P21675 xref: UNIPROTKB/SWISSPROT:P21675 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:53351 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked dystonia-parkinsonism property_value: alternative:term "BA2R" xsd:string property_value: alternative:term "CCG1" xsd:string property_value: alternative:term "CCGS" xsd:string property_value: alternative:term "dystonia 3 (with Parkinsonism)" xsd:string property_value: alternative:term "DYT3" xsd:string property_value: alternative:term "DYT3/TAF1" xsd:string property_value: alternative:term "KAT4" xsd:string property_value: alternative:term "NSCL2" xsd:string property_value: alternative:term "TAF2A" xsd:string property_value: alternative:term "TAFII250" xsd:string property_value: alternative:term "TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD" xsd:string property_value: symbol "TAF1" xsd:string [Term] id: Orphanet:139217 name: deafness, autosomal recessive 31 xref: ENSEMBL:ENSG00000095397 xref: GENATLAS:DFNB31 xref: HGNC:16361 xref: OMIM:607928 xref: UNIPROTKB/SWISSPROT:Q9P202 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231178 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Usher syndrome type 2 relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "CIP98" xsd:string property_value: alternative:term "CIP998" xsd:string property_value: alternative:term "PDZD7B" xsd:string property_value: alternative:term "USH2D" xsd:string property_value: alternative:term "whirlin" xsd:string property_value: alternative:term "WHRN" xsd:string property_value: symbol "DFNB31" xsd:string [Term] id: Orphanet:1393 name: Cerebro-costo-mandibular syndrome xref: ICD10:Q87.8 xref: OMIM:117650 xref: SNOMED CT:51780007 xref: UMLS:C0265342 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:93454 ! Dysostosis with predominant vertebral and costal involvement property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis." xsd:string [Term] id: Orphanet:139373 name: Recessive hereditary methemoglobinemia type 1 xref: ICD10:D74.0 xref: OMIM:250800 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:621 ! Hereditary methemoglobinemia property_value: alternative:term "NADH-cytochrome b5reductase deficiency type 1" xsd:string property_value: alternative:term "NADH-diaphorase deficiency type 1" xsd:string property_value: alternative:term "Recessive congenital methemoglobinemia type 1" xsd:string [Term] id: Orphanet:139380 name: Recessive hereditary methemoglobinemia type 2 xref: ICD10:D74.0 xref: OMIM:250800 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:621 ! Hereditary methemoglobinemia property_value: alternative:term "NADH-cytochrome b5reductase deficiency type 2" xsd:string property_value: alternative:term "NADH-diaphorase deficiency type 2" xsd:string property_value: alternative:term "Recessive congenital methemoglobinemia type 2" xsd:string [Term] id: Orphanet:139390 name: Isolated craniosynostosis xref: ICD10:Q75.0 is_a: Orphanet:1531 ! Craniosynostosis [Term] id: Orphanet:139393 name: Syndromic craniosynostosis is_a: Orphanet:1531 ! Craniosynostosis [Term] id: Orphanet:139396 name: X-linked cerebral adrenoleukodystrophy xref: ICD10:E71.3 xref: OMIM:300100 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182076 ! Syndromic neurometabolic disease with X-linked intellectual deficit relationship: part_of Orphanet:43 ! X-linked adrenoleukodystrophy property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency." xsd:string [Term] id: Orphanet:139399 name: Adrenomyeloneuropathy xref: ICD10:E71.3 xref: OMIM:300100 xref: UMLS:C1527231 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:43 ! X-linked adrenoleukodystrophy property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males." xsd:string [Term] id: Orphanet:1394 name: Cerebro-facio-thoracic dysplasia xref: ICD10:Q87.5 xref: OMIM:213980 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:93454 ! Dysostosis with predominant vertebral and costal involvement property_value: alternative:term "Pascual-Castroviejo syndrome type 1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities." xsd:string [Term] id: Orphanet:139402 name: Drug rash with eosinophilia and systemic symptoms is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:293815 ! Toxic dermatosis relationship: part_of Orphanet:79384 ! Rare urticaria property_value: alternative:term "DRESS syndrome" xsd:string property_value: alternative:term "Drug reaction eosinophilic systemic syndrome" xsd:string [Term] id: Orphanet:139406 name: Encephalopathy due to prosaposin deficiency xref: ICD10:E75.2 xref: OMIM:611721 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:371442 ! Sphingolipidosis with epilepsy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79225 ! Sphingolipidosis property_value: alternative:term "Combined prosaposin deficiency" xsd:string [Term] id: Orphanet:139411 name: Carney triad xref: ICD10:D44.8 xref: OMIM:604287 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100094 ! Multiple polyglandular tumor [Term] id: Orphanet:139414 name: Congenital panfollicular nevus is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294057 ! Rare nevus [Term] id: Orphanet:139417 name: Acute transverse myelitis xref: ICD10:G37.3 xref: SNOMED CT:47000000 xref: UMLS:C0270627 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102000 ! Medullar disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM; see this term) or secondary to a known cause (SATM; see this term)." xsd:string [Term] id: Orphanet:139420 name: Secondary acute transverse myelitis xref: ICD10:G37.3 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139417 ! Acute transverse myelitis property_value: alternative:term "Disease-associated transverse myelitis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Secondary acute transverse myelitis (ATM) is characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease." xsd:string [Term] id: Orphanet:139423 name: Idiopathic acute transverse myelitis xref: ICD10:G37.3 is_a: Orphanet:139417 ! Acute transverse myelitis relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "ATM/TM" xsd:string [Term] id: Orphanet:139426 name: Perioral myoclonia with absences is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98259 ! Childhood-onset epilepsy syndrome property_value: alternative:term "POMA" xsd:string [Term] id: Orphanet:139431 name: Jeavons syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98259 ! Childhood-onset epilepsy syndrome property_value: alternative:term "EMEA" xsd:string property_value: alternative:term "Eyelid myoclonia with and without absences" xsd:string [Term] id: Orphanet:139436 name: Multicentric reticulohistiocytosis xref: ICD10:D76.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:157987 ! Non-Langerhans cell histiocytosis relationship: part_of Orphanet:240266 ! Systemic non-Langerhans cell histiocytosis property_value: alternative:term "Giant cell histiocytomatosis" xsd:string property_value: alternative:term "Lipoid dermatoarthritis" xsd:string [Term] id: Orphanet:139441 name: Hypomyelination with atrophy of basal ganglia and cerebellum xref: ICD10:E75.2 xref: OMIM:612438 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68356 ! Leukodystrophy property_value: alternative:term "H-ABC" xsd:string [Term] id: Orphanet:139444 name: Leukoencephalopathy with bilateral anterior temporal lobe cysts xref: ICD10:E75.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68356 ! Leukodystrophy [Term] id: Orphanet:139447 name: Progressive cavitating leukoencephalopathy xref: ICD10:E75.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68356 ! Leukodystrophy [Term] id: Orphanet:139450 name: Microtia - eye coloboma - imperforation of the nasolacrimal duct xref: ICD10:Q15.8 xref: OMIM:611863 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:98558 ! Rare eye disease due to a differentiation anomaly property_value: alternative:term "Balikova-Vermeesch syndrome" xsd:string [Term] id: Orphanet:139455 name: Retinopathy, Burgess-Black type xref: ICD10:H35.5 xref: OMIM:611809 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:71862 ! Retinal dystrophy property_value: alternative:term "Autosomal recessive bestrophinopathy" xsd:string [Term] id: Orphanet:139466 name: SERKAL syndrome xref: OMIM:611812 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:325109 ! Syndrome with 46,XX disorder of sex development property_value: alternative:term "Sex reversion - kidneys, adrenal and lung dysgenesis" xsd:string [Term] id: Orphanet:139471 name: Microphthalmia with brain and digit anomalies xref: ICD10:Q11.2 xref: OMIM:607932 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:202948 ! Syndromic microphthalmia property_value: alternative:term "Bakrania-Ragge syndrome" xsd:string property_value: alternative:term "MCOPS6" xsd:string property_value: alternative:term "Syndromic microphthalmia type 6" xsd:string [Term] id: Orphanet:139474 name: 17q11.2 microduplication syndrome xref: ICD10:Q92.3 xref: OMIM:613675 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:262968 ! Partial duplication of the long arm of chromosome 17 property_value: alternative:term "Dup(17)(q11.2)" xsd:string property_value: alternative:term "Grisart-Destrée syndrome" xsd:string property_value: alternative:term "Trisomy 17q11.2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit." xsd:string [Term] id: Orphanet:139477 name: Al-Gazali-Dattani syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_324737 with label: SRD5A3-CDG" xsd:string [Term] id: Orphanet:139480 name: Autosomal recessive spastic paraplegia type 39 xref: ICD10:G11.4 xref: OMIM:612020 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100981 ! Autosomal recessive complex spastic paraplegia relationship: part_of Orphanet:352306 ! Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement property_value: alternative:term "Spastic paraplegia due to neuropathy target esterase mutation" xsd:string property_value: alternative:term "Spastic paraplegia due to NTE mutation" xsd:string property_value: alternative:term "SPG39" xsd:string [Term] id: Orphanet:139485 name: Autosomal recessive ataxia due to ubiquinone deficiency xref: ICD10:G11.1 xref: OMIM:612016 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:1172 ! Autosomal recessive cerebellar ataxia relationship: part_of Orphanet:35656 ! Coenzyme Q10 deficiency property_value: alternative:term "ARCA2" xsd:string property_value: alternative:term "Autosomal recessive ataxia due to coenzyme Q10 deficiency" xsd:string property_value: alternative:term "Autosomal recessive cerebellar ataxia type 2" xsd:string property_value: alternative:term "Autosomal recessive spinocerebellar ataxia type 9" xsd:string property_value: alternative:term "SCAR9" xsd:string [Term] id: Orphanet:139491 name: Hemochromatosis type 4 xref: ICD10:E83.1 xref: MESH:C537249 xref: OMIM:606069 xref: UMLS:C1853733 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:220489 ! Rare hereditary hemochromatosis property_value: alternative:term "Autosomal dominant hereditary hemochromatosis" xsd:string property_value: alternative:term "Ferroportin disease" xsd:string property_value: alternative:term "Hemochromatosis due to defect in ferroportin" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." xsd:string [Term] id: Orphanet:139507 name: African iron overload xref: ICD10:E83.1 xref: OMIM:601195 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:309842 ! Disorder of iron metabolism and transport property_value: alternative:term "Bantu siderosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis." xsd:string [Term] id: Orphanet:139512 name: Neuropathy with hearing impairment xref: ICD10:G60.0 xref: ICD10:H90.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:140453 ! Autosomal dominant hereditary demyelinating motor and sensory neuropathy relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:139515 name: Charcot-Marie-Tooth disease type 4J xref: ICD10:G60.0 xref: OMIM:611228 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:64749 ! Charcot-Marie-Tooth disease type 4 property_value: alternative:term "CMT4J" xsd:string [Term] id: Orphanet:139518 name: Distal hereditary motor neuropathy type 1 xref: ICD10:G12.2 xref: OMIM:182960 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:140465 ! Autosomal dominant distal hereditary motor neuropathy property_value: alternative:term "Autosomal dominant distal juvenile spinal muscular atrophy type 1" xsd:string property_value: alternative:term "dHMN1" xsd:string [Term] id: Orphanet:139525 name: Distal hereditary motor neuropathy type 2 xref: ICD10:G12.2 xref: OMIM:158590 xref: OMIM:608634 xref: OMIM:613376 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: part_of Orphanet:140465 ! Autosomal dominant distal hereditary motor neuropathy property_value: alternative:term "dHMN2" xsd:string property_value: alternative:term "Distal spinal muscular atrophy type 2" xsd:string property_value: alternative:term "dSMA2" xsd:string [Term] id: Orphanet:139536 name: Distal hereditary motor neuropathy type 5 xref: ICD10:G12.2 xref: OMIM:600794 xref: OMIM:614751 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: part_of Orphanet:140465 ! Autosomal dominant distal hereditary motor neuropathy property_value: alternative:term "dHMN5" xsd:string property_value: alternative:term "Distal spinal muscular atrophy type 5" xsd:string [Term] id: Orphanet:139547 name: Distal spinal muscular atrophy type 3 xref: ICD10:G12.2 xref: OMIM:607088 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:140468 ! Autosomal recessive distal hereditary motor neuropathy property_value: alternative:term "Autosomal recessive distal spinal muscular atrophy type 3" xsd:string property_value: alternative:term "dHMN3 and dHMN4" xsd:string property_value: alternative:term "Distal hereditary motor neuropathy type 3 and type 4" xsd:string property_value: alternative:term "dSMA3" xsd:string [Term] id: Orphanet:139552 name: Distal hereditary motor neuropathy, Jerash type xref: ICD10:G12.2 xref: OMIM:605726 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:140468 ! Autosomal recessive distal hereditary motor neuropathy property_value: alternative:term "Autosomal recessive distal spinal muscular atrophy type 2" xsd:string property_value: alternative:term "dHMNJ" xsd:string [Term] id: Orphanet:139557 name: X-linked distal spinal muscular atrophy xref: ICD10:G12.2 xref: OMIM:300489 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:206713 ! Distal spinal muscular atrophy relationship: part_of Orphanet:53739 ! Distal hereditary motor neuropathy property_value: alternative:term "X-linked dHMN" xsd:string property_value: alternative:term "X-linked distal hereditary motor neuropathy" xsd:string property_value: alternative:term "X-linked dSMA" xsd:string [Term] id: Orphanet:139564 name: Hereditary sensory and autonomic neuropathy type 1B xref: ICD10:G60.8 xref: OMIM:608088 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:140474 ! Autosomal dominant hereditary sensory and autonomic neuropathy property_value: alternative:term "Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux" xsd:string property_value: alternative:term "HSAN with cough and gastroesophageal reflux" xsd:string property_value: alternative:term "HSAN1B" xsd:string [Term] id: Orphanet:139573 name: Hereditary sensory and autonomic neuropathy with deafness and global delay xref: ICD10:G60.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:140477 ! Autosomal recessive hereditary sensory and autonomic neuropathy property_value: alternative:term "HSAN with deafness and global delay" xsd:string [Term] id: Orphanet:139578 name: Hereditary sensory and autonomic neuropathy with spastic paraplegia xref: ICD10:G60.8 xref: OMIM:256840 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100981 ! Autosomal recessive complex spastic paraplegia relationship: part_of Orphanet:140477 ! Autosomal recessive hereditary sensory and autonomic neuropathy property_value: alternative:term "HSAN with spastic paraplegia" xsd:string [Term] id: Orphanet:139583 name: X-linked hereditary sensory and autonomic neuropathy with deafness xref: ICD10:G60.8 xref: OMIM:300614 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:140471 ! Hereditary sensory and autonomic neuropathy property_value: alternative:term "X-linked auditory neuropathy with peripheral sensory neuropathy type 1" xsd:string property_value: alternative:term "X-linked HSAN with deafness" xsd:string [Term] id: Orphanet:139589 name: Distal hereditary motor neuropathy type 7 xref: ICD10:G12.2 xref: OMIM:158580 xref: OMIM:607641 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:140465 ! Autosomal dominant distal hereditary motor neuropathy property_value: alternative:term "dHMN7" xsd:string property_value: alternative:term "Distal spinal muscular atrophy with vocal cord paralysis" xsd:string [Term] id: Orphanet:1396 name: Cerebro-reno-digital syndrome xref: ICD10:Q87.8 xref: OMIM:609345 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:93587 ! Familial cystic renal disease [Term] id: Orphanet:1397 name: Cerebellum agenesis - hydrocephaly xref: ICD10:Q04.3 xref: OMIM:307010 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:139778 name: melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) xref: ENSEMBL:ENSG00000258839 xref: GENATLAS:MC1R xref: HGNC:6929 xref: IUPHAR:282 xref: OMIM:155555 xref: REACTOME:Q01726 xref: UNIPROTKB/SWISSPROT:Q01726 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:618 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial melanoma relationship: Orphanet:317346 Orphanet:626 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Large congenital melanocytic nevus relationship: Orphanet:317346 Orphanet:79432 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oculocutaneous albinism type 2 property_value: alternative:term "MSH-R" xsd:string property_value: symbol "MC1R" xsd:string [Term] id: Orphanet:139780 name: transmembrane protease, serine 6 xref: ENSEMBL:ENSG00000187045 xref: GENATLAS:TMPRSS6 xref: HGNC:16517 xref: IUPHAR:2422 xref: OMIM:609862 xref: UNIPROTKB/SWISSPROT:Q8IU80 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:209981 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! IRIDA syndrome property_value: alternative:term "FLJ30744" xsd:string property_value: symbol "TMPRSS6" xsd:string [Term] id: Orphanet:139795 name: Usher syndrome 1E (autosomal recessive, severe) xref: HGNC:12599 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231169 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Usher syndrome type 1 property_value: symbol "USH1E" xsd:string [Term] id: Orphanet:1398 name: Isolated cerebellar hypoplasia/agenesis xref: ICD10:Q04.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:269224 ! Global cerebellar malformation [Term] id: Orphanet:139802 name: family with sequence similarity 83, member H xref: ENSEMBL:ENSG00000180921 xref: GENATLAS:FAM83H xref: HGNC:24797 xref: OMIM:611927 xref: UNIPROTKB/SWISSPROT:Q6ZRV2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100032 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypocalcified amelogenesis imperfecta property_value: alternative:term "FLJ46072" xsd:string property_value: symbol "FAM83H" xsd:string [Term] id: Orphanet:139855 name: fibulin 1 xref: ENSEMBL:ENSG00000077942 xref: GENATLAS:FBLN1 xref: HGNC:3600 xref: OMIM:135820 xref: REACTOME:P23142 xref: UNIPROTKB/SWISSPROT:P23142 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:295197 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Synpolydactyly type 2 property_value: alternative:term "FBLN" xsd:string property_value: symbol "FBLN1" xsd:string [Term] id: Orphanet:139899 name: dystonia 7, torsion (autosomal dominant) xref: HGNC:3107 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:93963 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal dominant focal dystonia, DYT7 type property_value: symbol "DYT7" xsd:string [Term] id: Orphanet:1399 name: Richards-Rundle syndrome xref: ICD10:G60.2 xref: MESH:C535674 xref: OMIM:245100 xref: UMLS:C0796136 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183518 ! Rare hereditary ataxia relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Ketoaciduria - intellectual deficit - ataxia - deafness" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Richards-Rundle syndrome is a very rare disorder characterized by autosomal recessive ataxia, hearing loss, mental deterioration, peripheral muscle wasting, hypergonadotrophic hypogonadism and ketoaciduria." xsd:string [Term] id: Orphanet:139906 name: tyrosyl-tRNA synthetase xref: ENSEMBL:ENSG00000134684 xref: GENATLAS:YARS xref: HGNC:12840 xref: OMIM:603623 xref: REACTOME:P54577 xref: UNIPROTKB/SWISSPROT:P54577 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100045 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant intermediate Charcot-Marie-Tooth disease type C property_value: alternative:term "tyrosine tRNA ligase 1, cytoplasmic" xsd:string property_value: alternative:term "tyrRS" xsd:string property_value: alternative:term "YRS" xsd:string property_value: alternative:term "YTS" xsd:string property_value: symbol "YARS" xsd:string [Term] id: Orphanet:14 name: Abetalipoproteinemia xref: ICD10:E78.6 xref: MESH:D000012 xref: OMIM:200100 xref: SNOMED CT:190787008 xref: UMLS:C0000744 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:104005 ! Intestinal disease due to fat malabsorption relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:31154 ! Hypobetalipoproteinemia relationship: part_of Orphanet:363306 ! Genetic intestinal disease due to fat malabsorption relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:98096 ! Autosomal recessive metabolic cerebellar ataxia relationship: part_of Orphanet:98366 ! Constitutional hemolytic anemia due to acanthocytosis relationship: part_of Orphanet:98713 ! Metabolic disease with pigmentary retinitis property_value: alternative:term "Bassen-Kornzweig disease" xsd:string property_value: alternative:term "Homozygous familial hypobetalipoproteinemia" xsd:string [Term] id: Orphanet:140 name: Campomelic dysplasia xref: ICD10:Q87.1 xref: MESH:D055036 xref: OMIM:114290 xref: OMIM:211990 xref: OMIM:602196 xref: SNOMED CT:74928006 xref: UMLS:C1861922 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:325638 ! Syndrome with disorder of sex development of gynecological interest relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:93439 ! Bent bone dysplasia relationship: part_of Orphanet:98087 ! Syndrome with 46,XY disorder of sex development property_value: alternative:term "Campomelic dwarfism" xsd:string [Term] id: Orphanet:140036 name: ubiquitin-like modifier activating enzyme 1 xref: ENSEMBL:ENSG00000130985 xref: GENATLAS:UBA1 xref: HGNC:12469 xref: OMIM:314370 xref: REACTOME:P22314 xref: UNIPROTKB/SWISSPROT:P22314 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1145 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked distal arthrogryposis multiplex congenita property_value: alternative:term "A1S9T" xsd:string property_value: alternative:term "GXP1" xsd:string property_value: alternative:term "POC20" xsd:string property_value: alternative:term "POC20 centriolar protein homolog (Chlamydomonas)" xsd:string property_value: alternative:term "UBA1, ubiquitin-activating enzyme E1 homolog (yeast)" xsd:string property_value: alternative:term "UBE1" xsd:string property_value: alternative:term "UBE1X" xsd:string property_value: alternative:term "UBEX1" xsd:string property_value: alternative:term "ubiquitin-activating enzyme E1" xsd:string property_value: alternative:term "ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)" xsd:string property_value: symbol "UBA1" xsd:string [Term] id: Orphanet:140041 name: oncostatin M receptor xref: ENSEMBL:ENSG00000145623 xref: GENATLAS:OSMR xref: HGNC:8507 xref: OMIM:601743 xref: UNIPROTKB/SWISSPROT:Q99650 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:353220 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial primary localized cutaneous amyloidosis property_value: alternative:term "OSMRB" xsd:string property_value: symbol "OSMR" xsd:string [Term] id: Orphanet:140044 name: four and a half LIM domains 1 xref: ENSEMBL:ENSG00000022267 xref: GENATLAS:FHL1 xref: HGNC:3702 xref: OMIM:300163 xref: UNIPROTKB/SWISSPROT:Q13642 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178461 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked myopathy with postural muscle atrophy relationship: Orphanet:317343 Orphanet:85146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Scapuloperoneal amyotrophy relationship: Orphanet:317343 Orphanet:97239 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Reducing body myopathy relationship: Orphanet:317343 Orphanet:98863 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked Emery-Dreifuss muscular dystrophy property_value: alternative:term "bA535K18.1" xsd:string property_value: alternative:term "FHL1B" xsd:string property_value: alternative:term "FLH1A" xsd:string property_value: alternative:term "Four-and-a-half LIM domains 1" xsd:string property_value: alternative:term "KYO-T" xsd:string property_value: alternative:term "LIM protein SLIMMER" xsd:string property_value: alternative:term "MGC111107" xsd:string property_value: alternative:term "SLIM1" xsd:string property_value: alternative:term "XMPMA" xsd:string property_value: symbol "FHL1" xsd:string [Term] id: Orphanet:140047 name: bone morphogenetic protein 4 xref: ENSEMBL:ENSG00000125378 xref: GENATLAS:BMP4 xref: HGNC:1071 xref: OMIM:112262 xref: REACTOME:P12644 xref: UNIPROTKB/SWISSPROT:P12644 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:139471 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microphthalmia with brain and digit anomalies relationship: Orphanet:317349 Orphanet:264200 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 14q22q23 microdeletion syndrome property_value: alternative:term "BMP2B" xsd:string property_value: symbol "BMP4" xsd:string [Term] id: Orphanet:140050 name: TERF1 (TRF1)-interacting nuclear factor 2 xref: ENSEMBL:ENSG00000092330 xref: GENATLAS:TINF2 xref: HGNC:11824 xref: OMIM:604319 xref: REACTOME:Q9BSI4 xref: UNIPROTKB/SWISSPROT:Q9BSI4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1775 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dyskeratosis congenita relationship: Orphanet:317343 Orphanet:3088 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinopathy - anemia- central nervous system anomalies relationship: Orphanet:317343 Orphanet:3322 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hoyeraal-Hreidarsson syndrome property_value: alternative:term "TIN2" xsd:string property_value: symbol "TINF2" xsd:string [Term] id: Orphanet:140053 name: aarF domain containing kinase 3 xref: ENSEMBL:ENSG00000163050 xref: GENATLAS:CABC1 xref: HGNC:16812 xref: IUPHAR:1927 xref: OMIM:606980 xref: UNIPROTKB/SWISSPROT:Q8NI60 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:139485 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive ataxia due to ubiquinone deficiency property_value: alternative:term "CABC1" xsd:string property_value: alternative:term "Chaperone, ABC1 activity of bc1 complex homolog (S. pombe)" xsd:string property_value: alternative:term "chaperone, ABC1 activity of bc1 complex like (S. pombe)" xsd:string property_value: alternative:term "chaperone-ABC1 (activity of bc1 complex, S.pombe)-like" xsd:string property_value: alternative:term "Coenzyme Q8 homolog" xsd:string property_value: alternative:term "coenzyme Q8 homolog (yeast)" xsd:string property_value: alternative:term "COQ8" xsd:string property_value: alternative:term "SCAR9" xsd:string property_value: symbol "ADCK3" xsd:string [Term] id: Orphanet:140058 name: solute carrier family 16, member 12 xref: ENSEMBL:ENSG00000152779 xref: GENATLAS:SLC16A12 xref: HGNC:23094 xref: OMIM:611910 xref: UNIPROTKB/SWISSPROT:Q6ZSM3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:247794 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juvenile cataract - microcornea - renal glucosuria property_value: alternative:term "MCT12" xsd:string property_value: alternative:term "monocarboxylic acid transporter 12" xsd:string property_value: alternative:term "Solute carrier family 16 (monocarboxylic acid transporters), member 12" xsd:string property_value: alternative:term "Solute carrier family 16, member 12 (monocarboxylic acid transporter 12)" xsd:string property_value: symbol "SLC16A12" xsd:string [Term] id: Orphanet:140067 name: dynactin 1 xref: ENSEMBL:ENSG00000204843 xref: GENATLAS:DCTN1 xref: HGNC:2711 xref: OMIM:601143 xref: REACTOME:Q14203 xref: UNIPROTKB/SWISSPROT:Q14203 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:139589 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Distal hereditary motor neuropathy type 7 relationship: Orphanet:317343 Orphanet:178509 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Perry syndrome relationship: Orphanet:327767 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis property_value: alternative:term "dynactin 1 (p150, Glued (Drosophila) homolog)" xsd:string property_value: alternative:term "Dynactin 1 (p150, glued homolog, Drosophila)" xsd:string property_value: alternative:term "p150 glued homolog (Drosophila)" xsd:string property_value: symbol "DCTN1" xsd:string [Term] id: Orphanet:140069 name: mitochondrial ribosomal protein S22 xref: ENSEMBL:ENSG00000175110 xref: GENATLAS:MRPS22 xref: HGNC:14508 xref: OMIM:605810 xref: UNIPROTKB/SWISSPROT:P82650 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:137908 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypotonia with lactic acidemia and hyperammonemia property_value: alternative:term "C3orf5" xsd:string property_value: alternative:term "GIBT" xsd:string property_value: alternative:term "GK002" xsd:string property_value: alternative:term "MRP-S22" xsd:string property_value: symbol "MRPS22" xsd:string [Term] id: Orphanet:140074 name: ring finger protein 135 xref: ENSEMBL:ENSG00000181481 xref: GENATLAS:RNF135 xref: HGNC:21158 xref: OMIM:611358 xref: REACTOME:Q8IUD6 xref: UNIPROTKB/SWISSPROT:Q8IUD6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:137634 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Overgrowth - macrocephaly - facial dysmorphism relationship: Orphanet:317349 Orphanet:97685 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 17q11 microdeletion syndrome property_value: alternative:term "MGC13061" xsd:string property_value: alternative:term "riplet" xsd:string property_value: symbol "RNF135" xsd:string [Term] id: Orphanet:1401 name: CHAND syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_1071 with label: Ankyloblepharon - ectodermal defects - cleft lip/palate" xsd:string [Term] id: Orphanet:140162 name: Inherited cancer-predisposing syndrome is_a: Orphanet:250908 ! Rare oncologic disease is_a: Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:140286 name: Secondary hypoparathyroidism due to impaired parathormon secretion xref: ICD10:E20.8 is_a: Orphanet:181405 ! Rare hypoparathyroidism [Term] id: Orphanet:140436 name: Primary intraosseous vascular malformation xref: ICD10:D18.0 xref: OMIM:606893 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:211237 ! Vascular tumor relationship: part_of Orphanet:235832 ! Congenital vascular bone syndrome property_value: alternative:term "Intraosseous hemangioma" xsd:string property_value: alternative:term "Osseous vascular malformation" xsd:string [Term] id: Orphanet:140450 name: Hereditary motor and sensory neuropathy xref: ICD10:G60.0 xref: MESH:D015417 xref: SNOMED CT:398100001 xref: UMLS:C0027888 is_a: Orphanet:98497 ! Genetic peripheral neuropathy [Term] id: Orphanet:140453 name: Autosomal dominant hereditary demyelinating motor and sensory neuropathy xref: ICD10:G60.0 is_a: Orphanet:140450 ! Hereditary motor and sensory neuropathy [Term] id: Orphanet:140456 name: Autosomal dominant hereditary axonal motor and sensory neuropathy xref: ICD10:G60.0 is_a: Orphanet:140450 ! Hereditary motor and sensory neuropathy [Term] id: Orphanet:140459 name: Autosomal recessive hereditary demyelinating motor and sensory neuropathy xref: ICD10:G60.0 is_a: Orphanet:140450 ! Hereditary motor and sensory neuropathy [Term] id: Orphanet:140462 name: X-linked recessive hereditary axonal motor and sensory neuropathy xref: ICD10:G60.0 is_a: Orphanet:140450 ! Hereditary motor and sensory neuropathy [Term] id: Orphanet:140465 name: Autosomal dominant distal hereditary motor neuropathy xref: ICD10:G12.1 is_a: Orphanet:206713 ! Distal spinal muscular atrophy is_a: Orphanet:53739 ! Distal hereditary motor neuropathy property_value: alternative:term "Autosomal dominant dHMN" xsd:string property_value: alternative:term "Autosomal dominant distal spinal muscular atrophy" xsd:string [Term] id: Orphanet:140468 name: Autosomal recessive distal hereditary motor neuropathy xref: ICD10:G12.2 is_a: Orphanet:206713 ! Distal spinal muscular atrophy is_a: Orphanet:53739 ! Distal hereditary motor neuropathy property_value: alternative:term "Autosomal recessive dHMN" xsd:string property_value: alternative:term "Autosomal recessive distal spinal muscular atrophy" xsd:string property_value: alternative:term "Autosomal recessive dSMA" xsd:string [Term] id: Orphanet:140471 name: Hereditary sensory and autonomic neuropathy xref: ICD10:G60.8 xref: MESH:D009477 xref: SNOMED CT:128205005 xref: UMLS:C0027889 is_a: Orphanet:98497 ! Genetic peripheral neuropathy [Term] id: Orphanet:140474 name: Autosomal dominant hereditary sensory and autonomic neuropathy xref: ICD10:G60.8 is_a: Orphanet:140471 ! Hereditary sensory and autonomic neuropathy [Term] id: Orphanet:140477 name: Autosomal recessive hereditary sensory and autonomic neuropathy xref: ICD10:G60.8 is_a: Orphanet:140471 ! Hereditary sensory and autonomic neuropathy [Term] id: Orphanet:140481 name: Autosomal dominant slowed nerve conduction velocity xref: ICD10:G60.0 xref: OMIM:608236 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:140453 ! Autosomal dominant hereditary demyelinating motor and sensory neuropathy [Term] id: Orphanet:140514 name: mitochondrially encoded tRNA glutamic acid xref: ENSEMBL:ENSG00000210194 xref: GENATLAS:MT-TE xref: HGNC:7479 xref: OMIM:590025 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:225 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited diabetes and deafness relationship: Orphanet:317343 Orphanet:254864 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial myopathy with reversible cytochrome C oxidase deficiency relationship: Orphanet:317343 Orphanet:2596 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myopathy and diabetes mellitus property_value: alternative:term "MTTE" xsd:string property_value: alternative:term "tRNA glutamic acid" xsd:string property_value: alternative:term "trnE" xsd:string property_value: symbol "MT-TE" xsd:string [Term] id: Orphanet:140526 name: Leber congenital amaurosis 5 xref: ENSEMBL:ENSG00000135338 xref: GENATLAS:LCA5 xref: HGNC:31923 xref: OMIM:611408 xref: UNIPROTKB/SWISSPROT:Q86VQ0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:364055 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe early-childhood-onset retinal dystrophy relationship: Orphanet:317343 Orphanet:65 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber congenital amaurosis property_value: alternative:term "C6orf152" xsd:string property_value: alternative:term "chromosome 6 open reading frame 152" xsd:string property_value: alternative:term "lebercilin" xsd:string property_value: symbol "LCA5" xsd:string [Term] id: Orphanet:140541 name: RPGRIP1-like xref: ENSEMBL:ENSG00000103494 xref: GENATLAS:RPGRIP1L xref: HGNC:29168 xref: OMIM:610937 xref: UNIPROTKB/SWISSPROT:Q68CZ1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1454 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with hepatic defect relationship: Orphanet:317343 Orphanet:220497 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with renal defect relationship: Orphanet:317343 Orphanet:564 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Meckel syndrome property_value: alternative:term "CORS3" xsd:string property_value: alternative:term "fantom homolog" xsd:string property_value: alternative:term "FTM" xsd:string property_value: alternative:term "JBTS7" xsd:string property_value: alternative:term "KIAA1005" xsd:string property_value: alternative:term "Meckel syndrome, type 5" xsd:string property_value: alternative:term "MKS5" xsd:string property_value: alternative:term "NPHP8" xsd:string property_value: symbol "RPGRIP1L" xsd:string [Term] id: Orphanet:140560 name: ATP-binding cassette, sub-family A (ABC1), member 3 xref: ENSEMBL:ENSG00000167972 xref: GENATLAS:ABCA3 xref: HGNC:33 xref: OMIM:601615 xref: REACTOME:Q99758 xref: UNIPROTKB/SWISSPROT:Q99758 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:217563 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal acute respiratory distress with surfactant metabolism deficiency relationship: Orphanet:317343 Orphanet:264675 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital pulmonary alveolar proteinosis property_value: alternative:term "ABC-C" xsd:string property_value: alternative:term "ABC3" xsd:string property_value: alternative:term "EST111653" xsd:string property_value: alternative:term "LBM180" xsd:string property_value: symbol "ABCA3" xsd:string [Term] id: Orphanet:140567 name: v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog xref: ENSEMBL:ENSG00000178573 xref: GENATLAS:MAF xref: HGNC:6776 xref: OMIM:177075 xref: UNIPROTKB/SWISSPROT:O75444 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1377 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cataract-microcornea syndrome relationship: Orphanet:317343 Orphanet:98984 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pulverulent cataract relationship: Orphanet:317343 Orphanet:98989 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cerulean cataract property_value: alternative:term "c-MAF" xsd:string property_value: alternative:term "V-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian)" xsd:string property_value: symbol "MAF" xsd:string [Term] id: Orphanet:1406 name: Charlie M syndrome xref: ICD10:Q87.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:2749 ! Oro-mandibular-limb hypogenesis syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit [Term] id: Orphanet:140653 name: Neuro-ophthalmological disease is_a: Orphanet:101435 ! Rare genetic eye disease [Term] id: Orphanet:1408 name: Hair defect - photosensitivity - intellectual deficit xref: OMIM:234030 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:79367 ! Syndromic hair shaft abnormality property_value: alternative:term "Calderon-Gonzalez Cantu syndrome" xsd:string [Term] id: Orphanet:140874 name: Joubert syndrome and related disorders is_a: Orphanet:98095 ! Autosomal recessive congenital cerebellar ataxia property_value: alternative:term "JSRD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa." xsd:string [Term] id: Orphanet:140896 name: Severe acute respiratory syndrome xref: ICD10:U04 xref: MEDDRA:10061982 xref: MESH:D045169 xref: SNOMED CT:398447004 xref: UMLS:C1175175 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101944 ! Rare pulmonary disease relationship: part_of Orphanet:163585 ! Rare viral disease property_value: alternative:term "SARS" xsd:string property_value: alternative:term "SARS-associated coronavirus" xsd:string property_value: alternative:term "SARS-CoV" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Severe acute respiratory syndrome is an infectious acute pulmonary disease induced by a coronavirus. It begins with flu-like symptoms, including high fever that may be accompanied by headache and muscle aches, cough, and shortness of breath. Most people with SARS subsequently develop pneumonia." xsd:string [Term] id: Orphanet:1409 name: Woolly hair - hypotrichosis - everted lower lip - outstanding ears xref: MESH:C536746 xref: OMIM:278200 xref: UMLS:C0406718 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79367 ! Syndromic hair shaft abnormality property_value: alternative:term "Salamon syndrome" xsd:string property_value: alternative:term "Wooly hair - hypotrichosis - everted lower lip - outstanding ears" xsd:string [Term] id: Orphanet:140905 name: Hyperlipidemia due to hepatic triglyceride lipase deficiency xref: ICD10:E78.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:181428 ! Hyperalphalipoproteinemia [Term] id: Orphanet:140908 name: Brachydactyly type B2 xref: ICD10:Q73.8 xref: OMIM:611377 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly [Term] id: Orphanet:140917 name: Stapes ankylosis with broad thumbs and toes xref: ICD10:Q87.8 xref: OMIM:184460 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Teunissen-Cremers syndrome" xsd:string [Term] id: Orphanet:140922 name: Autosomal recessive limb-girdle muscular dystrophy type 2J xref: ICD10:G71.0 xref: OMIM:608807 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:102015 ! Autosomal recessive limb-girdle muscular dystrophy relationship: part_of Orphanet:209053 ! Qualitative or quantitative defects of titin property_value: alternative:term "LGMD2J" xsd:string [Term] id: Orphanet:140927 name: Benign familial neonatal-infantile seizures xref: ICD10:G40.4 xref: MEDDRA:10067866 xref: OMIM:607745 xref: SNOMED CT:230410004 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:166311 ! Benign partial infantile seizures relationship: part_of Orphanet:166475 ! Idiopathic or cryptogenic familial epileptic syndrome with identified loci/genes property_value: alternative:term "Benign neonatal-infantile epilepsy" xsd:string property_value: alternative:term "BFNIS" xsd:string [Term] id: Orphanet:140933 name: Linear atrophoderma of Moulin xref: SNOMED CT:403395007 xref: UMLS:C1274753 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183472 ! Genetic dermis disorder relationship: part_of Orphanet:79377 ! Dermis disorder [Term] id: Orphanet:140941 name: Short stature due to primary acid-labile subunit deficiency xref: ICD10:E34.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181393 ! Growth hormone insensitivity syndrome [Term] id: Orphanet:140944 name: CLOVE syndrome xref: ICD10:Q87.3 xref: OMIM:612918 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183484 ! Genetic subcutaneous tissue disease relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:211277 ! Complex - combined vascular malformation relationship: part_of Orphanet:294057 ! Rare nevus relationship: part_of Orphanet:79382 ! Subcutaneous tissue disease property_value: alternative:term "Congenital lipomatous overgrowth - vascular malformation - epidermal nevi" xsd:string [Term] id: Orphanet:140952 name: Syndactyly - telecanthus - anogenital and renal malformations xref: ICD10:Q87.8 xref: OMIM:300707 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "STAR syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia." xsd:string [Term] id: Orphanet:140957 name: Autosomal dominant macrothrombocytopenia xref: ICD10:D69.4 xref: OMIM:187800 xref: OMIM:613112 xref: OMIM:615193 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:220452 ! Inherited giant platelet disorder property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets." xsd:string [Term] id: Orphanet:140963 name: Bilateral microtia - deafness - cleft palate xref: OMIM:612290 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:140966 name: Palmoplantar keratoderma, Nagashima type xref: ICD10:Q82.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98356 ! Autosomal recessive isolated diffuse palmoplantar keratoderma property_value: alternative:term "Palmoplantar hyperkeratosis, Nagashima type" xsd:string property_value: alternative:term "PPK, Nagashima type" xsd:string [Term] id: Orphanet:140969 name: Saldino-Mainzer syndrome xref: ICD10:Q87.5 xref: MESH:C535463 xref: OMIM:266920 xref: UMLS:C1849437 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93436 ! Acromelic dysplasia relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa property_value: alternative:term "Conorenal syndrome" xsd:string property_value: alternative:term "Renal dysplasia - retinal pigmentary dystrophy - cerebellar ataxia - skeletal dysplasia" xsd:string [Term] id: Orphanet:140976 name: RHYNS syndrome xref: MESH:C537612 xref: OMIM:602152 xref: UMLS:C1865794 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93587 ! Familial cystic renal disease relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa property_value: alternative:term "Retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia" xsd:string [Term] id: Orphanet:140989 name: Primary central nervous system vasculitis xref: ICD10:I67.7 xref: MESH:C535276 xref: MESH:D020293 xref: SNOMED CT:230733004 xref: UMLS:C0751881 xref: UMLS:C2930862 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:156143 ! Predominantly medium-vessel vasculitis relationship: part_of Orphanet:183503 ! Genetic central nervous system and retinal vascular disease relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease property_value: alternative:term "Isolated angiitis of the central nervous system" xsd:string property_value: alternative:term "PACNS" xsd:string property_value: alternative:term "PCNSV" xsd:string property_value: alternative:term "Primary angiitis of the central nervous system" xsd:string property_value: alternative:term "Primary vasculitis of the central nervous system" xsd:string [Term] id: Orphanet:140997 name: Orofaciodigital syndrome xref: ICD10:Q87.0 xref: SNOMED CT:52868006 is_a: Orphanet:139036 ! Branchial arch or oral-acral syndrome is_a: Orphanet:156215 ! Oromandibular-limb anomalies syndrome is_a: Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations is_a: Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome is_a: Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "OFD" xsd:string property_value: alternative:term "Oral-facial-digital syndrome" xsd:string [Term] id: Orphanet:141 name: Canavan disease xref: ICD10:E75.2 xref: MEDDRA:10067608 xref: MESH:D017825 xref: OMIM:271900 xref: SNOMED CT:80544005 xref: UMLS:C0206307 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:225689 ! Amino acid or protein metabolism disease with epilepsy relationship: part_of Orphanet:308448 ! Aminoacylase deficiency relationship: part_of Orphanet:68356 ! Leukodystrophy relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "ACY2 deficiency" xsd:string property_value: alternative:term "Aminoacylase 2 deficiency" xsd:string property_value: alternative:term "Aspartoacylase deficiency" xsd:string property_value: alternative:term "Spongy degeneration of the brain" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay." xsd:string [Term] id: Orphanet:1410 name: Uncombable hair syndrome xref: ICD10:Q84.1 xref: MESH:C536939 xref: OMIM:191480 xref: SNOMED CT:254230001 xref: UMLS:C0432347 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79366 ! Isolated hair shaft abnormality property_value: alternative:term "Pili trianguli et canaliculi" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia." xsd:string [Term] id: Orphanet:141000 name: Orofaciodigital syndrome type 11 xref: ICD10:Q87.0 xref: OMIM:612913 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:140997 ! Orofaciodigital syndrome property_value: alternative:term "OFD11" xsd:string property_value: alternative:term "Oral-facial-digital syndrome type 11" xsd:string property_value: alternative:term "Oral-facial-digital syndrome, Gabrielli type" xsd:string property_value: alternative:term "Orofaciodigital syndrome, Gabrielli type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Oral-facial-digital syndrome type 11 is an extremely rare, sporadic form of oral-facial-digital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe mental retardation, deafness and congenital heart defects." xsd:string [Term] id: Orphanet:141007 name: Orofaciodigital syndrome type 9 xref: ICD10:Q87.0 xref: OMIM:258865 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:140997 ! Orofaciodigital syndrome property_value: alternative:term "OFD9" xsd:string property_value: alternative:term "Oral-facial-digital syndrome type 9" xsd:string property_value: alternative:term "Oral-facial-digital syndrome with retinal abnormalities" xsd:string property_value: alternative:term "Orofaciodigital syndrome with retinal abnormalities" xsd:string [Term] id: Orphanet:141013 name: First branchial cleft anomaly xref: ICD10:Q18.0 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:155835 ! Cysts and fistulae of the face and oral cavity property_value: alternative:term "First branchial cleft cyst" xsd:string property_value: alternative:term "First branchial cleft fistula" xsd:string [Term] id: Orphanet:141022 name: Second branchial cleft anomaly xref: ICD10:Q18.0 xref: OMIM:113600 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:155835 ! Cysts and fistulae of the face and oral cavity property_value: alternative:term "Second branchial cleft cyst" xsd:string property_value: alternative:term "Second branchial cleft fistula" xsd:string [Term] id: Orphanet:141030 name: Third branchial cleft anomaly xref: ICD10:Q18.0 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:155835 ! Cysts and fistulae of the face and oral cavity property_value: alternative:term "Third branchial cleft cyst" xsd:string property_value: alternative:term "Third branchial cleft fistula" xsd:string [Term] id: Orphanet:141037 name: Fourth branchial cleft anomaly xref: ICD10:Q18.0 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:155835 ! Cysts and fistulae of the face and oral cavity property_value: alternative:term "Fourth branchial cleft cyst" xsd:string property_value: alternative:term "Fourth branchial cleft fistula" xsd:string [Term] id: Orphanet:141046 name: Cervical dermoid cyst xref: ICD10:Q18.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:155835 ! Cysts and fistulae of the face and oral cavity property_value: alternative:term "Dermoid cyst of the neck" xsd:string [Term] id: Orphanet:141051 name: Facial dermoid cyst xref: ICD10:Q18.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:155835 ! Cysts and fistulae of the face and oral cavity property_value: alternative:term "Dermoid cyst of the face" xsd:string [Term] id: Orphanet:141061 name: Commissural lip fistula xref: ICD10:Q38.0 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:155835 ! Cysts and fistulae of the face and oral cavity [Term] id: Orphanet:141064 name: Lower lip fistula xref: ICD10:Q38.0 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:155835 ! Cysts and fistulae of the face and oral cavity [Term] id: Orphanet:141067 name: Cervicofacial fibrochondroma is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:155835 ! Cysts and fistulae of the face and oral cavity property_value: alternative:term "Cervicofacial enchondroma" xsd:string [Term] id: Orphanet:141071 name: Digestive duplication cyst of the tongue xref: ICD10:Q38.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:155835 ! Cysts and fistulae of the face and oral cavity property_value: alternative:term "Enteric duplication cyst of the tongue" xsd:string property_value: alternative:term "Foregut duplication cyst of the tongue" xsd:string property_value: alternative:term "Gastric duplication cyst of the tongue" xsd:string [Term] id: Orphanet:141074 name: External auditory canal aplasia/hypoplasia xref: ICD10:Q16.1 xref: OMIM:108760 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:156243 ! Pinnae and external auditory canal anomaly property_value: alternative:term "External auditory canal stenosis/atresia" xsd:string [Term] id: Orphanet:141077 name: Epignathus xref: ICD10:D10.5 xref: SNOMED CT:31248004 xref: UMLS:C0266725 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:156246 ! Nose and cavum anomaly relationship: part_of Orphanet:883 ! Teratoma property_value: alternative:term "Oropharyngeal teratoma" xsd:string [Term] id: Orphanet:141083 name: Nasolacrimal duct cyst xref: ICD10:H04.6 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:156246 ! Nose and cavum anomaly property_value: alternative:term "Congenital nasolacrimal duct obstruction" xsd:string property_value: alternative:term "Congenital nasolacrimal mucocele" xsd:string property_value: alternative:term "Dacryocystocele" xsd:string [Term] id: Orphanet:141091 name: Polyrrhinia xref: ICD10:Q30.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:156246 ! Nose and cavum anomaly property_value: alternative:term "Double nose" xsd:string [Term] id: Orphanet:141096 name: Supernumerary nostril xref: ICD10:Q30.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:156246 ! Nose and cavum anomaly [Term] id: Orphanet:141099 name: Proboscis lateralis xref: ICD10:Q30.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:156246 ! Nose and cavum anomaly property_value: alternative:term "Congenital tubular nose" xsd:string [Term] id: Orphanet:141103 name: Nasal dermoid cyst xref: ICD10:Q18.8 xref: OMIM:600679 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:155835 ! Cysts and fistulae of the face and oral cavity property_value: alternative:term "Nasal dermoid sinus cyst" xsd:string [Term] id: Orphanet:141107 name: Nasopharyngeal teratoma xref: ICD10:D10.6 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:156246 ! Nose and cavum anomaly relationship: part_of Orphanet:883 ! Teratoma property_value: alternative:term "Teratoma of the nasopharynx" xsd:string [Term] id: Orphanet:141112 name: Nasal glial heterotopia is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:156246 ! Nose and cavum anomaly relationship: part_of Orphanet:98061 ! Rare otorhinolaryngologic tumor property_value: alternative:term "Nasal glioma" xsd:string [Term] id: Orphanet:141115 name: Nasal ganglioglioma is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:156246 ! Nose and cavum anomaly relationship: part_of Orphanet:251949 ! Ganglioglioma relationship: part_of Orphanet:98061 ! Rare otorhinolaryngologic tumor property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components that manifests as a nasal glioma and that can be endonasal, extranasal or both and is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction." xsd:string [Term] id: Orphanet:141118 name: Nasal encephalocele xref: ICD10:Q01.1 xref: SNOMED CT:65455002 xref: UMLS:C0014066 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:156246 ! Nose and cavum anomaly relationship: part_of Orphanet:199647 ! Isolated encephalocele [Term] id: Orphanet:141121 name: Congenital subglottic stenosis xref: ICD10:Q31.1 xref: SNOMED CT:204552001 xref: UMLS:C0396051 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:156249 ! Larynx anomaly [Term] id: Orphanet:141124 name: Congenital laryngeal cyst xref: ICD10:Q31.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:156249 ! Larynx anomaly [Term] id: Orphanet:141127 name: Congenital tracheal stenosis xref: ICD10:Q32.1 xref: MESH:C536975 xref: OMIM:603569 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:156252 ! Tracheal anomaly [Term] id: Orphanet:141132 name: Oculo-auriculo-vertebral spectrum is_a: Orphanet:155896 ! Otomandibular dysplasia property_value: alternative:term "OAV spectrum" xsd:string property_value: alternative:term "Unilateral or bilateral and asymmetric otomandibular dysplasia" xsd:string [Term] id: Orphanet:141136 name: Hemifacial microsomia xref: ICD10:Q75.8 xref: SNOMED CT:254025006 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:141132 ! Oculo-auriculo-vertebral spectrum property_value: alternative:term "First branchial arch syndrome" xsd:string property_value: alternative:term "Laterofacial microsomia" xsd:string property_value: alternative:term "Otomandibular dysostosis" xsd:string property_value: alternative:term "Otomandibular syndrome" xsd:string [Term] id: Orphanet:141145 name: Hemifacial hypertrophy xref: ICD10:Q67.4 xref: OMIM:133900 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:156207 ! Macroglossia [Term] id: Orphanet:141148 name: Hemifacial myohyperplasia xref: ICD10:Q67.4 xref: MESH:C535862 xref: OMIM:606773 xref: UMLS:C1847521 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:156207 ! Macroglossia [Term] id: Orphanet:141152 name: Isolated congenital hypoglossia/aglossia xref: ICD10:Q38.3 xref: OMIM:612776 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:156212 ! Hypoglossia/aglossia [Term] id: Orphanet:141163 name: Glossopalatine ankylosis is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2749 ! Oro-mandibular-limb hypogenesis syndrome property_value: alternative:term "Cosack syndrome" xsd:string [Term] id: Orphanet:141168 name: Frontonasal arteriovenous malformation xref: ICD10:Q27.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:156230 ! Facial arteriovenous malformation [Term] id: Orphanet:141171 name: Maxillary arteriovenous malformation xref: ICD10:Q27.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:156230 ! Facial arteriovenous malformation [Term] id: Orphanet:141174 name: Mandibular arteriovenous malformation xref: ICD10:Q27.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:156230 ! Facial arteriovenous malformation [Term] id: Orphanet:141179 name: Non-involuting congenital hemangioma xref: ICD10:D18.0 xref: SNOMED CT:399973007 xref: UMLS:C1275417 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:211237 ! Vascular tumor property_value: alternative:term "NICH" xsd:string [Term] id: Orphanet:141184 name: Rapidly involuting congenital hemangioma xref: ICD10:D18.0 xref: SNOMED CT:400162006 xref: UMLS:C1275421 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:211237 ! Vascular tumor property_value: alternative:term "RICH" xsd:string [Term] id: Orphanet:141189 name: Cerebrofacial arteriovenous metameric syndrome xref: ICD10:Q28.2 is_a: Orphanet:102006 ! Neurovascular malformation is_a: Orphanet:211266 ! Arteriovenous malformation property_value: alternative:term "CAMS" xsd:string [Term] id: Orphanet:141194 name: Cerebrofacial arteriovenous metameric syndrome type 1 xref: ICD10:Q28.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:141189 ! Cerebrofacial arteriovenous metameric syndrome property_value: alternative:term "CAMS 1" xsd:string [Term] id: Orphanet:141199 name: Cerebrofacial arteriovenous metameric syndrome type 3 xref: ICD10:Q28.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:141189 ! Cerebrofacial arteriovenous metameric syndrome property_value: alternative:term "CAMS 3" xsd:string [Term] id: Orphanet:1412 name: Tarsal-carpal coalition syndrome xref: ICD10:Q74.8 xref: MESH:C536943 xref: OMIM:186400 xref: OMIM:186570 xref: UMLS:C1861305 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:93459 ! Syndrome with synostosis or other joint formation defect [Term] id: Orphanet:141209 name: Diffuse lymphatic malformation xref: ICD10:D18.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:79489 ! Macrocystic lymphatic malformation property_value: alternative:term "Diffuse lymphangioma" xsd:string property_value: alternative:term "Diffuse lymphangiomatosis" xsd:string property_value: alternative:term "Disseminated lymphangioma" xsd:string property_value: alternative:term "Disseminated lymphangiomatosis" xsd:string property_value: alternative:term "Disseminated lymphatic malformation" xsd:string [Term] id: Orphanet:141214 name: Congenital syngnathia xref: ICD10:Q67.4 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations property_value: alternative:term "Congenital maxillomandibular fusion" xsd:string [Term] id: Orphanet:141219 name: Nasal dorsum fistula/cyst xref: ICD10:Q18.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:155835 ! Cysts and fistulae of the face and oral cavity [Term] id: Orphanet:141229 name: Facial cleft xref: ICD10:Q18.8 is_a: Orphanet:155832 ! Rare head and neck malformation is_a: Orphanet:68329 ! Rare maxillo-facial surgical disease property_value: alternative:term "Craniofacial cleft" xsd:string [Term] id: Orphanet:141234 name: Median facial cleft xref: ICD10:Q18.8 is_a: Orphanet:141229 ! Facial cleft property_value: alternative:term "Midline facial cleft" xsd:string property_value: alternative:term "Tessier number 0-14 and 30 facial cleft" xsd:string [Term] id: Orphanet:141239 name: Median cleft of the upper lip and maxilla xref: ICD10:Q18.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:141234 ! Median facial cleft [Term] id: Orphanet:141242 name: Paramedian nasal cleft xref: ICD10:Q18.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:155867 ! Paramedian facial cleft property_value: alternative:term "Cleft nose" xsd:string property_value: alternative:term "Tessier number 1 cleft" xsd:string [Term] id: Orphanet:141253 name: Oblique facial cleft xref: ICD10:Q18.8 is_a: Orphanet:141229 ! Facial cleft is_a: Orphanet:183583 ! Genetic head and neck malformation property_value: alternative:term "Orbitofacial cleft" xsd:string [Term] id: Orphanet:141258 name: Tessier number 4 facial cleft xref: ICD10:Q18.8 xref: OMIM:600251 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:141253 ! Oblique facial cleft [Term] id: Orphanet:141261 name: Tessier number 5 facial cleft xref: ICD10:Q18.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:141253 ! Oblique facial cleft [Term] id: Orphanet:141265 name: Tessier number 6 facial cleft xref: ICD10:Q18.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:141253 ! Oblique facial cleft [Term] id: Orphanet:141269 name: Lateral facial cleft xref: ICD10:Q18.8 is_a: Orphanet:141229 ! Facial cleft is_a: Orphanet:183583 ! Genetic head and neck malformation property_value: alternative:term "Tessier number 7 facial cleft" xsd:string property_value: alternative:term "Transverse facial cleft" xsd:string [Term] id: Orphanet:141276 name: Commissural facial cleft xref: ICD10:Q18.4 xref: OMIM:613545 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:141269 ! Lateral facial cleft property_value: alternative:term "Macrostomia" xsd:string [Term] id: Orphanet:141288 name: Midline cervical cleft xref: ICD10:Q18.8 xref: SNOMED CT:403557001 xref: UMLS:C1274890 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:141234 ! Median facial cleft [Term] id: Orphanet:141327 name: Orofaciodigital syndrome type 12 xref: ICD10:Q87.0 xref: MESH:C548034 xref: UMLS:C2932679 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:140997 ! Orofaciodigital syndrome property_value: alternative:term "OFD12" xsd:string property_value: alternative:term "Oral-facial-digital syndrome type 12" xsd:string [Term] id: Orphanet:141330 name: Orofaciodigital syndrome type 13 xref: ICD10:Q87.0 xref: MESH:C548035 xref: UMLS:C2932680 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:140997 ! Orofaciodigital syndrome property_value: alternative:term "OFD13" xsd:string property_value: alternative:term "Oral-facial-digital syndrome type 13" xsd:string [Term] id: Orphanet:141333 name: Biemond syndrome type 2 xref: OMIM:210350 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139021 ! Malformation syndrome with short stature relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome" xsd:string [Term] id: Orphanet:1414 name: Cholestasis - lymphedema xref: ICD10:Q82.0 xref: OMIM:214900 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101939 ! Rare parenchymatous liver disease relationship: part_of Orphanet:156604 ! Genetic parenchymatous liver disease relationship: part_of Orphanet:89832 ! Syndromic lymphedema property_value: alternative:term "Aagenaes syndrome" xsd:string [Term] id: Orphanet:1415 name: Cholestasis - pigmentary retinopathy - cleft palate xref: OMIM:612726 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome property_value: alternative:term "Hardikar syndrome" xsd:string [Term] id: Orphanet:1416 name: Familial articular chondrocalcinosis xref: ICD10:M11.1 xref: OMIM:118600 xref: OMIM:600668 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182231 ! Rare rheumatologic disease property_value: alternative:term "Calcium pyrophosphate deposition disease" xsd:string property_value: alternative:term "Calcium pyrophosphate dihydrate crystal deposition disease" xsd:string property_value: alternative:term "CPPD" xsd:string property_value: alternative:term "CPPDD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial calcium pyrophosphate deposition (CPPD) is a chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA)." xsd:string [Term] id: Orphanet:142 name: Anaplastic thyroid carcinoma xref: ICD10:C73 xref: MEDDRA:10002240 xref: MESH:C536910 xref: SNOMED CT:255031003 xref: UMLS:C0238461 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:100088 ! Thyroid carcinoma [Term] id: Orphanet:1420 name: Lethal chondrodysplasia, Moerman type is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93465 ! Lethal chondrodysplasia property_value: alternative:term "Moerman-Vandenberghe-Fryns syndrome" xsd:string [Term] id: Orphanet:1421 name: Lethal chondrodysplasia, Seller type xref: OMIM:601376 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93465 ! Lethal chondrodysplasia [Term] id: Orphanet:1422 name: Chondrodysplasia - disorder of sex development xref: ICD10:Q87.1 xref: OMIM:600092 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:325638 ! Syndrome with disorder of sex development of gynecological interest relationship: part_of Orphanet:364536 ! Primary bone dysplasia with micromelia relationship: part_of Orphanet:98087 ! Syndrome with 46,XY disorder of sex development property_value: alternative:term "Chondrodysplasia - pseudohermaphrodism" xsd:string property_value: alternative:term "Nivelon-Nivelon-Mabille syndrome" xsd:string [Term] id: Orphanet:1423 name: Lethal recessive chondrodysplasia xref: ICD10:Q78.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93465 ! Lethal chondrodysplasia property_value: alternative:term "Maroteaux-Stanescu-Cousin syndrome" xsd:string [Term] id: Orphanet:1425 name: Desbuquois syndrome xref: ICD10:Q78.8 xref: MESH:C535943 xref: OMIM:251450 xref: OMIM:300881 xref: SNOMED CT:254099008 xref: UMLS:C0432242 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139030 ! Malformation syndrome with connective tissue involvement relationship: part_of Orphanet:93441 ! Primary bone dysplasia with multiple joint dislocations property_value: alternative:term "Desbuquois dysplasia" xsd:string [Term] id: Orphanet:1426 name: Greenberg dysplasia xref: ICD10:Q77.3 xref: MESH:C537299 xref: OMIM:215140 xref: SNOMED CT:389261002 xref: UMLS:C1300226 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79195 ! Sterol biosynthesis disorder relationship: part_of Orphanet:93442 ! Chondrodysplasia punctata property_value: alternative:term "Hydrops - ectopic calcification - motheaten" xsd:string property_value: alternative:term "Skeletal dysplasia, Greenberg type" xsd:string [Term] id: Orphanet:1427 name: Otospondylomegaepiphyseal dysplasia xref: ICD10:Q77.7 xref: OMIM:215150 xref: SNOMED CT:254060000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:93421 ! Type 2 collagen-related bone disorder relationship: part_of Orphanet:93422 ! Type 11 collagen-related bone disorder property_value: alternative:term "OSMED" xsd:string [Term] id: Orphanet:1428 name: Familial chondromalacia patellae xref: ICD10:M22.4 xref: OMIM:168900 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93455 ! Patellar dysostosis property_value: alternative:term "Patellofemoral syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission." xsd:string [Term] id: Orphanet:1429 name: Benign familial chorea xref: ICD10:G25.5 xref: OMIM:118700 xref: OMIM:215450 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:158266 ! Huntington disease-like syndrome relationship: part_of Orphanet:306719 ! Neurodegenerative disease with chorea property_value: alternative:term "Hereditary benign chorea" xsd:string [Term] id: Orphanet:143 name: Parathyroid carcinoma xref: ICD10:C75.0 xref: OMIM:608266 xref: SNOMED CT:255037004 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:100090 ! Rare parathyroid tumor relationship: part_of Orphanet:181408 ! Rare hyperparathyroidism [Term] id: Orphanet:1431 name: Paroxysmal dyskinesia xref: ICD10:G24.8 xref: MESH:D002819 xref: UMLS:C0752210 is_a: Orphanet:200037 ! Paroxysmal dystonia is_a: Orphanet:31709 ! Infantile convulsions and choreoathetosis relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Paroxysmal dyskinesias (PD) are rare heterogenous groups of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief duration alteration. PD include paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exercise-induced dyskinesia (PED)." xsd:string [Term] id: Orphanet:1432 name: Autosomal dominant chorioretinopathy - microcephaly is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_2526 with label: Microcephaly - lymphedema - chorioretinopathy" xsd:string [Term] id: Orphanet:1433 name: Choroidal atrophy - alopecia is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Moloney syndrome" xsd:string property_value: alternative:term "Regional choroidal atrophy and alopecia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy, sometimes regional, together with other ectodermal dysplasia features, including fine and sparse hair; absent or decreased lashes and eyebrows; and possibly mild visual loss and dysplastic, thick and grooved nails." xsd:string [Term] id: Orphanet:1434 name: Choroideremia - hypopituitarism is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98662 ! Unclassified familial retinal dystrophy [Term] id: Orphanet:1435 name: Choroideremia - deafness - obesity xref: OMIM:303110 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:240371 ! Syndromic obesity relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98662 ! Unclassified familial retinal dystrophy property_value: alternative:term "Ayazi syndrome" xsd:string [Term] id: Orphanet:1436 name: Skeletal dysplasia - intellectual deficit xref: ICD10:Q87.5 xref: OMIM:309620 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:93434 ! Spondylodysplastic dysplasia relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Christian syndrome" xsd:string [Term] id: Orphanet:1437 name: Ring chromosome 1 xref: ICD10:Q93.2 xref: MESH:C535361 xref: SNOMED CT:47017007 xref: UMLS:C0265395 xref: UMLS:C1519099 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:363203 ! Ring chromosome [Term] id: Orphanet:1438 name: Ring chromosome 10 xref: ICD10:Q93.2 xref: MESH:C538086 xref: SNOMED CT:86997002 xref: UMLS:C0265438 xref: UMLS:C2931727 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:363203 ! Ring chromosome [Term] id: Orphanet:1439 name: Ring chromosome 12 xref: ICD10:Q93.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:363203 ! Ring chromosome [Term] id: Orphanet:144 name: Hereditary nonpolyposis colon cancer xref: ICD10:C18 xref: MEDDRA:10051981 xref: MESH:D003123 xref: OMIM:120435 xref: OMIM:609310 xref: OMIM:613244 xref: OMIM:614331 xref: OMIM:614337 xref: OMIM:614350 xref: OMIM:614385 xref: SNOMED CT:315058005 xref: UMLS:C1333990 is_a: Orphanet:104011 ! Intestinal tumor is_a: Orphanet:140162 ! Inherited cancer-predisposing syndrome is_a: Orphanet:213517 ! Familial ovarian cancer is_a: Orphanet:271835 ! Genetic digestive tract tumor relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Familial nonpolyposis colon cancer" xsd:string property_value: alternative:term "Familial nonpolyposis colorectal cancer" xsd:string property_value: alternative:term "Hereditary nonpolyposis colorectal cancer" xsd:string property_value: alternative:term "HNPCC" xsd:string property_value: alternative:term "Lynch syndrome" xsd:string [Term] id: Orphanet:1440 name: Ring chromosome 14 xref: ICD10:Q93.2 xref: MESH:C535487 xref: UMLS:C2930916 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:166469 ! Chromosomal anomaly with epilepsy as a major feature relationship: part_of Orphanet:363203 ! Ring chromosome [Term] id: Orphanet:1441 name: Ring chromosome 17 xref: ICD10:Q93.2 xref: MESH:C538046 xref: UMLS:C2931714 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:363203 ! Ring chromosome [Term] id: Orphanet:1442 name: Ring chromosome 18 xref: ICD10:Q93.2 xref: MESH:C538304 xref: SNOMED CT:88154004 xref: UMLS:C0265475 xref: UMLS:C2931809 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:363203 ! Ring chromosome [Term] id: Orphanet:1443 name: Ring chromosome 19 xref: ICD10:Q93.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:363203 ! Ring chromosome [Term] id: Orphanet:1444 name: Ring chromosome 20 xref: ICD10:Q93.2 xref: MESH:C535369 xref: SNOMED CT:23686004 xref: UMLS:C0265482 xref: UMLS:C2930886 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:166469 ! Chromosomal anomaly with epilepsy as a major feature relationship: part_of Orphanet:363203 ! Ring chromosome [Term] id: Orphanet:1445 name: Ring chromosome 21 xref: ICD10:Q93.2 xref: MESH:C537109 xref: SNOMED CT:31325007 xref: UMLS:C0265487 xref: UMLS:C2931422 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:363203 ! Ring chromosome [Term] id: Orphanet:1446 name: Ring chromosome 22 xref: ICD10:Q93.2 xref: MESH:C536795 xref: SNOMED CT:13555004 xref: UMLS:C0265492 xref: UMLS:C2931325 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:363203 ! Ring chromosome [Term] id: Orphanet:1447 name: Ring chromosome 4 xref: ICD10:Q93.2 xref: MESH:C537636 xref: SNOMED CT:81678004 xref: UMLS:C0265407 xref: UMLS:C2931556 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:363203 ! Ring chromosome [Term] id: Orphanet:1448 name: Ring chromosome 6 xref: ICD10:Q93.2 xref: MESH:C537763 xref: UMLS:C0795814 xref: UMLS:C2931604 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:363203 ! Ring chromosome [Term] id: Orphanet:1449 name: Ring chromosome 7 xref: ICD10:Q93.2 xref: MESH:C537813 xref: UMLS:C0795818 xref: UMLS:C2931622 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:363203 ! Ring chromosome [Term] id: Orphanet:145 name: Hereditary breast and ovarian cancer syndrome xref: ICD10:C50 xref: ICD10:C56 xref: OMIM:604370 xref: OMIM:612555 xref: OMIM:613399 xref: OMIM:614291 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:180257 ! Rare malignant breast tumor relationship: part_of Orphanet:183731 ! Rare genetic gynecological and obstetrical diseases relationship: part_of Orphanet:213517 ! Familial ovarian cancer [Term] id: Orphanet:1450 name: Ring chromosome 8 xref: ICD10:Q93.2 xref: MESH:C537824 xref: UMLS:C2931633 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:363203 ! Ring chromosome [Term] id: Orphanet:1451 name: CINCA syndrome xref: ICD10:G03.1 xref: ICD10:G44.8 xref: ICD10:L50.8 xref: ICD10:M08.9 xref: OMIM:607115 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:208650 ! Cryopyrin-associated periodic syndrome relationship: part_of Orphanet:280926 ! Systemic diseases with anterior uveitis property_value: alternative:term "Chronic infantile neurological cutaneous articular syndrome" xsd:string property_value: alternative:term "Infantile-onset multisystem inflammatory disease" xsd:string property_value: alternative:term "IOMID syndrome" xsd:string property_value: alternative:term "Neonatal-onset multisystem inflammatory disease" xsd:string property_value: alternative:term "NOMID syndrome" xsd:string property_value: alternative:term "Prieur-Griscelli syndrome" xsd:string [Term] id: Orphanet:1452 name: Cleidocranial dysplasia xref: ICD10:Q74.0 xref: MESH:D002973 xref: OMIM:119600 xref: OMIM:216330 xref: SNOMED CT:65976001 xref: UMLS:C0008928 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:183542 ! Genetic cranial malformation relationship: part_of Orphanet:93451 ! Cleidocranial dysplasia and isolated cranial ossification defect relationship: part_of Orphanet:98038 ! Cranial malformation property_value: alternative:term "Cleidocranial dysostosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities." xsd:string [Term] id: Orphanet:1453 name: Cleidorhizomelic syndrome xref: OMIM:119650 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93438 ! Mesomelic and rhizo-mesomelic dysplasia property_value: alternative:term "Rhizomelic shortness with clavicular defect" xsd:string property_value: alternative:term "Wallis-Zieff-Goldblatt syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly with hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. To date cleidorhizomelic syndrome has been reported in one family (mother and son) suspecting an autosomal dominant transmission. No new updates since 1988." xsd:string [Term] id: Orphanet:1454 name: Joubert syndrome with hepatic defect xref: ICD10:K74.0 xref: ICD10:Q04.3 xref: OMIM:216360 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:140874 ! Joubert syndrome and related disorders relationship: part_of Orphanet:269523 ! Syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:269567 ! Genetic syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "Cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis" xsd:string property_value: alternative:term "COACH syndrome" xsd:string property_value: alternative:term "Gentile syndrome" xsd:string property_value: alternative:term "Joubert syndrome with congenital hepatic fibrosis" xsd:string property_value: alternative:term "JS-H" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF)." xsd:string [Term] id: Orphanet:1455 name: Autosomal dominant coarctation of aorta xref: ICD10:Q25.1 xref: MESH:C531623 xref: UMLS:C2930803 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:1457 ! Aorta coarctation [Term] id: Orphanet:1456 name: Atypical coarctation of aorta xref: ICD10:Q25.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:1457 ! Aorta coarctation property_value: alternative:term "Coarctation of the abdominal aorta" xsd:string property_value: alternative:term "Mid-aortic dysplastic syndrome" xsd:string property_value: alternative:term "Mid-aortic syndrome" xsd:string property_value: alternative:term "Midaortic syndrome" xsd:string property_value: alternative:term "Middle aortic syndrome" xsd:string [Term] id: Orphanet:1457 name: Aorta coarctation xref: ICD10:Q25.1 xref: MEDDRA:10009807 xref: MESH:C531623 xref: MESH:D001017 xref: OMIM:120000 xref: SNOMED CT:7305005 xref: UMLS:C0003492 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98718 ! Aortic malformation [Term] id: Orphanet:1458 name: CODAS syndrome xref: ICD10:Q87.8 xref: MESH:C536434 xref: OMIM:600373 xref: UMLS:C1838180 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Cerebro-oculo-dento-auriculo-skeletal syndrome" xsd:string [Term] id: Orphanet:1459 name: Celiac disease, epilepsy and cerebral calcification syndrome xref: OMIM:226810 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:166484 ! Inflammatory and autoimmune disease with epilepsy property_value: alternative:term "CEC" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications." xsd:string [Term] id: Orphanet:146 name: Papillary or follicular thyroid carcinoma xref: ICD10:C73 xref: OMIM:188470 xref: OMIM:188550 xref: OMIM:607464 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:100088 ! Thyroid carcinoma property_value: alternative:term "Well-differentiated thyroid carcinoma" xsd:string [Term] id: Orphanet:1460 name: Isolated CoQ-cytochrome C reductase deficiency xref: ICD10:G71.3 xref: OMIM:124000 xref: OMIM:615157 xref: OMIM:615158 xref: OMIM:615159 xref: OMIM:615160 xref: OMIM:615453 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: part_of Orphanet:254846 ! Isolated oxidative phosphorylation complex disorder property_value: alternative:term "Isolated coenzyme Q-cytochrome C reductase deficiency" xsd:string property_value: alternative:term "Isolated mitochondrial respiratory chain complex III deficiency" xsd:string property_value: alternative:term "Isolated ubiquinone-cytochrome C reductase deficiency" xsd:string [Term] id: Orphanet:1461 name: Criss-cross heart xref: ICD10:Q24.8 xref: SNOMED CT:253269002 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98730 ! Atrioventricular discordance property_value: alternative:term "Criss-cross atrioventricular relationships" xsd:string property_value: alternative:term "Superoinferior ventricles" xsd:string property_value: alternative:term "Twisted atrioventricular connections" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects." xsd:string [Term] id: Orphanet:1463 name: Triatrial heart xref: ICD10:Q24.2 is_a: Orphanet:98727 ! Atrial defect and interauricular communication property_value: alternative:term "Cor triatriatum" xsd:string [Term] id: Orphanet:1464 name: Univentricular heart xref: ICD10:Q20.4 xref: MEDDRA:10045545 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95483 ! Univentricular cardiopathy property_value: alternative:term "Double inlet left ventricle" xsd:string [Term] id: Orphanet:1465 name: Coffin-Siris syndrome xref: ICD10:Q87.1 xref: MESH:C536436 xref: OMIM:135900 xref: OMIM:614562 xref: OMIM:614607 xref: OMIM:614608 xref: OMIM:614609 xref: SNOMED CT:10007009 xref: UMLS:C0265338 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit,developmental delay, intellectual deficit, coarse facial features, and other variable clinical manifestations." xsd:string [Term] id: Orphanet:1466 name: COFS syndrome xref: ICD10:Q87.1 xref: OMIM:214150 xref: OMIM:610756 xref: OMIM:610758 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:191 ! Cockayne syndrome relationship: part_of Orphanet:202948 ! Syndromic microphthalmia property_value: alternative:term "Cerebrooculofacioskeletal syndrome" xsd:string property_value: alternative:term "Pena-Shokeir syndrome type 2" xsd:string [Term] id: Orphanet:1467 name: Cogan syndrome xref: ICD10:H16.3 xref: MEDDRA:10056667 xref: MESH:D055952 xref: SNOMED CT:405810005 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:156140 ! Predominantly large-vessel vasculitis [Term] id: Orphanet:147 name: Carbamoylphosphate synthetase deficiency xref: ICD10:E72.2 xref: MEDDRA:10058297 xref: OMIM:237300 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79167 ! Disorder of urea cycle metabolism and ammonia detoxification property_value: alternative:term "Carbamoyl phosphate synthetase 1 deficiency" xsd:string property_value: alternative:term "CPS1 deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Carbamyl phosphate synthetase deficiency is an urea cycle disorder strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis." xsd:string [Term] id: Orphanet:1471 name: Coloboma of macula - brachydactyly type B xref: ICD10:Q87.1 xref: MESH:C535969 xref: OMIM:120400 xref: UMLS:C1852752 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98665 ! Colobomatous and areolar dystrophy property_value: alternative:term "Sorsby syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Coloboma of macula - brachydactyly type B syndrome is characterised by the association of pigmented macular coloboma and brachydactyly type B. Other anomalies may include: sensorineural hearing loss, oligodontia (partial absence of teeth), absent kidney, double uterus and double vagina." xsd:string [Term] id: Orphanet:1473 name: Uveal coloboma - cleft lip and palate - intellectual deficit xref: ICD10:Q12.2 xref: OMIM:120433 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:1474 name: Colobomatous - microphthalmia - heart disease - hearing loss is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_138 with label: CHARGE syndrome" xsd:string [Term] id: Orphanet:1475 name: Renal coloboma syndrome xref: ICD10:Q14.2 xref: ICD10:Q60.4 xref: OMIM:120330 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:98558 ! Rare eye disease due to a differentiation anomaly property_value: alternative:term "Coloboma of optic nerve with renal disease" xsd:string property_value: alternative:term "Papillo-renal syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia." xsd:string [Term] id: Orphanet:1478 name: Interauricular communication xref: ICD10:Q21.1 xref: MEDDRA:10003664 xref: MEDDRA:10068864 xref: MESH:D006344 xref: OMIM:108800 xref: OMIM:607941 xref: OMIM:611363 xref: OMIM:612794 xref: OMIM:613087 xref: OMIM:614089 xref: OMIM:614433 xref: OMIM:614475 xref: SNOMED CT:253366007 xref: SNOMED CT:405752007 xref: SNOMED CT:70142008 xref: UMLS:C0018817 xref: UMLS:C2609256 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:271853 ! Genetic cardiac anomaly relationship: part_of Orphanet:98727 ! Atrial defect and interauricular communication property_value: alternative:term "ASD" xsd:string property_value: alternative:term "Atrial septal defect" xsd:string [Term] id: Orphanet:1479 name: Atrial septal defect - atrioventricular conduction defects xref: ICD10:Q24.8 xref: OMIM:108900 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease relationship: part_of Orphanet:156532 ! Rare syndrome with cardiac malformations property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block." xsd:string [Term] id: Orphanet:148 name: Multiple carboxylase deficiency xref: ICD10:E53.8 xref: MEDDRA:10028176 xref: MESH:D009100 xref: UMLS:C0026755 is_a: Orphanet:79163 ! Classic organic aciduria is_a: Orphanet:79217 ! Other metabolic disease with skin involvement relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "MCD" xsd:string [Term] id: Orphanet:1480 name: Ventricular septal defect xref: ICD10:Q21.0 xref: MEDDRA:10047298 xref: MESH:D006345 xref: OMIM:614429 xref: OMIM:614431 xref: OMIM:614432 xref: SNOMED CT:30288003 xref: UMLS:C0018818 is_a: Orphanet:271853 ! Genetic cardiac anomaly is_a: Orphanet:88991 ! Congenital heart malformation relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108923 ! 1 / 1000 property_value: alternative:term "Interventricular communication" xsd:string property_value: alternative:term "VSD" xsd:string [Term] id: Orphanet:1482 name: Gonococcal conjunctivitis xref: ICD10:A54.3+ xref: ICD10:H13.1* xref: SNOMED CT:231858009 xref: UMLS:C0339166 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:182214 ! Rare inflammatory eye disease [Term] id: Orphanet:1484 name: Contractures - ectodermal dysplasia - cleft lip/palate xref: ICD10:Q87.8 xref: MESH:C535465 xref: MESH:C538135 xref: OMIM:301815 xref: UMLS:C1844935 xref: UMLS:C2931745 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Ladda-Zonana-Ramer syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Contractures - ectodermal dysplasia - cleft lip/palate syndrome is characterised by severe congenital contractures, multiple cutaneous manifestations of ectodermal dysplasia, cleft lip/palate, and psychomotor and growth impairment." xsd:string [Term] id: Orphanet:1485 name: Arthrogryposis - hyperkeratosis, lethal form xref: OMIM:208158 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:1037 ! Arthrogryposis multiplex congenita property_value: alternative:term "Johnston-Aarons-Schelley syndrome" xsd:string [Term] id: Orphanet:1486 name: Lethal congenital contracture syndrome type 1 xref: ICD10:Q68.8 xref: MESH:C537194 xref: OMIM:253310 xref: UMLS:C1854664 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108993 ! Nonsyndromic respiratory or mediastinal malformation relationship: part_of Orphanet:108995 ! Syndromic respiratory or mediastinal malformation relationship: part_of Orphanet:182108 ! Thoracic malformation relationship: part_of Orphanet:294965 ! Lethal congenital contracture syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Herva disease" xsd:string property_value: alternative:term "LCCS1" xsd:string property_value: alternative:term "Multiple contracture syndrome, Finnish type" xsd:string [Term] id: Orphanet:1487 name: Cooks syndrome xref: ICD10:Q84.6 xref: OMIM:106995 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Anonychia - onychodystrophy with hypoplasia or absence of distal phalanges" xsd:string property_value: alternative:term "ODP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cooks syndrome is characterized by nail anomalies ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails), associated with brachydactyly of the fifth finger, and digitalization of the thumbs (triphalangism)." xsd:string [Term] id: Orphanet:1488 name: Cooper-Jabs syndrome xref: ICD10:Q87.8 xref: OMIM:209770 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Aural atresia - multiple congenital anomalies - intellectual deficit" xsd:string [Term] id: Orphanet:1489 name: Whooping cough xref: ICD10:A37 xref: MEDDRA:10034738 xref: MEDDRA:10047974 xref: MESH:D014917 xref: SNOMED CT:27836007 xref: UMLS:C0043167 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease property_value: alternative:term "Pertussis" xsd:string [Term] id: Orphanet:1490 name: Corneal dystrophy - perceptive deafness xref: ICD10:H18.5 xref: MESH:C535473 xref: OMIM:217400 xref: UMLS:C1857572 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98628 ! Syndromic corneal dystrophy property_value: alternative:term "CDPD" xsd:string property_value: alternative:term "Corneal dystrophy with progressive deafness" xsd:string property_value: alternative:term "Harboyan syndrome" xsd:string [Term] id: Orphanet:1492 name: Corpus callosum agenesis - double urinary collecting system is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:199639 ! Syndrome with corpus callosum agenesis /dysgenesis as a major feature property_value: alternative:term "Ben Ari-Shuper-Mimouni syndrome" xsd:string [Term] id: Orphanet:1493 name: Vici syndrome xref: ICD10:Q87.8 xref: OMIM:242840 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:199639 ! Syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:269573 ! Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Corpus callosum agenesis - cataract - immunodeficiency" xsd:string property_value: alternative:term "Dionisi-Vici-Sabetta-Gambarara syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Vici syndrome (VICIS) is a very rare congenital multisystem disorder characterized by agenesis of the corpus callosum, cataracts, hypotonia, developmental delay, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency." xsd:string [Term] id: Orphanet:1495 name: Intellectual deficit - hypoplastic corpus callosum - preauricular tag xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:199639 ! Syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:269573 ! Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature property_value: alternative:term "Da Silva syndrome" xsd:string [Term] id: Orphanet:1496 name: Corpus callosum agenesis - neuronopathy xref: ICD10:G60.0 xref: MESH:C536446 xref: OMIM:218000 xref: UMLS:C0795950 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:199639 ! Syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:207012 ! Spinal muscular atrophy associated with central nervous system anomaly relationship: part_of Orphanet:269573 ! Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature property_value: alternative:term "Andermann syndrome" xsd:string property_value: alternative:term "Charlevoix disease" xsd:string [Term] id: Orphanet:1497 name: X-linked complicated corpus callosum dysgenesis xref: ICD10:Q04.8 xref: OMIM:304100 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:275543 ! L1 syndrome property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum." xsd:string [Term] id: Orphanet:15 name: Achondroplasia xref: ICD10:Q77.4 xref: MEDDRA:10000452 xref: MESH:D000130 xref: OMIM:100800 xref: SNOMED CT:86268005 xref: UMLS:C0001080 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:364536 ! Primary bone dysplasia with micromelia relationship: part_of Orphanet:93420 ! FGFR3-related chondrodysplasia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia." xsd:string [Term] id: Orphanet:150 name: Nasopharyngeal carcinoma xref: ICD10:C11 xref: OMIM:161550 xref: OMIM:607107 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:289651 ! Epstein-Barr Virus-associated carcinoma relationship: part_of Orphanet:98060 ! Rare respiratory tumor relationship: part_of Orphanet:98061 ! Rare otorhinolaryngologic tumor [Term] id: Orphanet:1501 name: Adrenocortical carcinoma xref: ICD10:C74.0 xref: ICD10:E24.8 xref: MEDDRA:10001388 xref: MESH:D018268 xref: OMIM:202300 xref: SNOMED CT:2227007 xref: UMLS:C0206686 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:100091 ! Adrenal/paraganglial tumor relationship: part_of Orphanet:93618 ! Rare cause of hypertension relationship: part_of Orphanet:99893 ! ACTH-independent Cushing syndrome [Term] id: Orphanet:1505 name: Short rib-polydactyly syndrome xref: ICD10:Q77.2 xref: MESH:D012779 xref: SNOMED CT:205484001 xref: UMLS:C0036996 is_a: Orphanet:182108 ! Thoracic malformation is_a: Orphanet:93426 ! Short rib dysplasia relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:1506 name: Thin ribs - tubular bones - dysmorphism xref: ICD10:Q87.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93440 ! Slender bone dysplasia property_value: alternative:term "Sharma-Kapoor-Ramji syndrome" xsd:string [Term] id: Orphanet:1507 name: Autosomal recessive Robinow syndrome xref: ICD10:Q87.1 xref: MESH:C535863 xref: OMIM:268310 xref: UMLS:C1849334 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:97360 ! Robinow syndrome property_value: alternative:term "Costovertebral segmentation defect - mesomelia" xsd:string property_value: alternative:term "COVESDEM syndrome" xsd:string property_value: alternative:term "RRS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia." xsd:string [Term] id: Orphanet:1508 name: Coxoauricular syndrome xref: ICD10:Q87.1 xref: OMIM:122780 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93441 ! Primary bone dysplasia with multiple joint dislocations [Term] id: Orphanet:1509 name: Coxo-podo-patellar syndrome xref: ICD10:Q74.1 xref: OMIM:147891 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93455 ! Patellar dysostosis property_value: alternative:term "Ischiopatellar dysplasia" xsd:string property_value: alternative:term "Scott-Taor syndrome" xsd:string property_value: alternative:term "Small patella syndrome" xsd:string property_value: alternative:term "SPS" xsd:string [Term] id: Orphanet:151 name: Familial renal cell carcinoma xref: ICD10:C64 xref: MESH:C536851 xref: UMLS:C2931352 is_a: Orphanet:183595 ! Genetic renal tumor is_a: Orphanet:93619 ! Rare renal tumor relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 [Term] id: Orphanet:1512 name: Crane-Heise syndrome xref: ICD10:Q87.5 xref: MESH:C536452 xref: OMIM:218090 xref: UMLS:C1857532 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles." xsd:string [Term] id: Orphanet:1513 name: Craniodiaphyseal dysplasia xref: ICD10:M85.2 xref: OMIM:122860 xref: OMIM:218300 xref: SNOMED CT:205506004 xref: UMLS:C0410539 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183542 ! Genetic cranial malformation relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density relationship: part_of Orphanet:98038 ! Cranial malformation property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity." xsd:string [Term] id: Orphanet:1514 name: Craniodigital syndrome - intellectual deficit xref: ICD10:Q87.0 xref: OMIM:312860 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Scott craniodigital syndrome" xsd:string property_value: alternative:term "Scott-Bryant-Graham syndrome" xsd:string [Term] id: Orphanet:1515 name: Cranioectodermal dysplasia xref: ICD10:Q87.5 xref: OMIM:218330 xref: OMIM:613610 xref: OMIM:614099 xref: OMIM:614378 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:1505 ! Short rib-polydactyly syndrome relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "CED" xsd:string property_value: alternative:term "Sensenbrenner syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)." xsd:string [Term] id: Orphanet:1516 name: Craniofacial dyssynostosis xref: ICD10:Q87.0 xref: MESH:C536455 xref: OMIM:218350 xref: UMLS:C1857511 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183542 ! Genetic cranial malformation relationship: part_of Orphanet:98038 ! Cranial malformation [Term] id: Orphanet:1517 name: Hypertrichotic osteochondrodysplasia, Cantu type xref: ICD10:Q87.3 xref: MESH:C535572 xref: OMIM:239850 xref: UMLS:C0795905 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:93453 ! Dysostosis with predominant craniofacial involvement property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism." xsd:string [Term] id: Orphanet:1519 name: Hypertelorism, Teebi type xref: ICD10:Q87.0 xref: OMIM:145420 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:183542 ! Genetic cranial malformation relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:98038 ! Cranial malformation property_value: alternative:term "Brachycephalofrontonasal dysplasia" xsd:string property_value: alternative:term "Craniofrontonasal dysplasia, Teebi type" xsd:string property_value: alternative:term "Teebi hypertelorism syndrome" xsd:string property_value: alternative:term "Teebi syndrome" xsd:string [Term] id: Orphanet:1520 name: Craniofrontonasal dysplasia xref: ICD10:Q87.1 xref: MESH:C536456 xref: OMIM:304110 xref: UMLS:C0220767 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:183542 ! Genetic cranial malformation relationship: part_of Orphanet:364574 ! Acrofacial dysostosis relationship: part_of Orphanet:98038 ! Cranial malformation relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "CFND" xsd:string property_value: alternative:term "CFNS" xsd:string property_value: alternative:term "Craniofrontonasal syndrome" xsd:string [Term] id: Orphanet:1521 name: Craniofrontonasal dysplasia - Poland anomaly xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:180193 ! Syndromic breast hypoplasia/aplasia relationship: part_of Orphanet:183542 ! Genetic cranial malformation relationship: part_of Orphanet:98038 ! Cranial malformation property_value: alternative:term "Webster-Deming syndrome" xsd:string [Term] id: Orphanet:1522 name: Craniometaphyseal dysplasia xref: ICD10:Q78.8 xref: OMIM:123000 xref: OMIM:218400 xref: SNOMED CT:36601008 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density property_value: alternative:term "CMD" xsd:string [Term] id: Orphanet:1524 name: Craniomicromelic syndrome xref: ICD10:Q87.0 xref: OMIM:602558 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis [Term] id: Orphanet:1525 name: Cranio-osteoarthropathy xref: ICD10:M89.4 xref: OMIM:259100 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:248095 ! Primary hypertrophic osteoarthropathy property_value: alternative:term "Currarino disease" xsd:string property_value: alternative:term "Currarino idiopathic osteoarthropathy" xsd:string property_value: alternative:term "Reginato-Schiapachasse syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis." xsd:string [Term] id: Orphanet:1527 name: Craniosynostosis, Philadelphia type xref: ICD10:Q87.0 xref: OMIM:185900 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Craniosynostosis, Philadelphia type is a rare syndromic craniosynostosis (see this term) characterized by sagittal craniosynostosis and complete soft-tissue syndactyly." xsd:string [Term] id: Orphanet:1528 name: Craniotelencephalic dysplasia xref: ICD10:Q04.3 xref: MESH:C535597 xref: OMIM:218670 xref: UMLS:C1857471 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102010 ! Other syndrome with lissencephaly as a major feature relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis [Term] id: Orphanet:1529 name: Craniofacial-deafness-hand syndrome xref: ICD10:Q87.0 xref: MESH:C536453 xref: OMIM:122880 xref: UMLS:C1852510 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "CDHS" xsd:string property_value: alternative:term "Sommer-Young-Wee-Frye syndrome" xsd:string [Term] id: Orphanet:1530 name: Craniosynostosis - cataract is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis [Term] id: Orphanet:1531 name: Craniosynostosis xref: ICD10:Q75.0 xref: MEDDRA:10048907 xref: MEDDRA:10049889 xref: MESH:D003398 xref: SNOMED CT:57219006 xref: UMLS:C0010278 is_a: Orphanet:183542 ! Genetic cranial malformation is_a: Orphanet:364559 ! Dysostosis is_a: Orphanet:98038 ! Cranial malformation property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable Craniosynostosis may occur in an isolated setting or as part of a syndrome." xsd:string [Term] id: Orphanet:1532 name: Gómez-López-Hernández syndrome xref: ICD10:Q07.8 xref: OMIM:601853 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:269523 ! Syndrome with a cerebellar malformation as major feature property_value: alternative:term "Cerebellotrigeminal - dermal dysplasia" xsd:string property_value: alternative:term "Craniosynostosis - alopecia - brain defect" xsd:string [Term] id: Orphanet:1533 name: Craniosynostosis - fibular aplasia xref: ICD10:Q87.2 xref: OMIM:218550 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis property_value: alternative:term "Lowry syndrome" xsd:string [Term] id: Orphanet:1535 name: Craniosynostosis - dysmorphism - brachydactyly xref: ICD10:Q87.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis property_value: alternative:term "Glass-Chapman-Hockley syndrome" xsd:string [Term] id: Orphanet:1538 name: Craniosynostosis - Dandy-Walker malformation - hydrocephalus xref: ICD10:Q03.1 xref: ICD10:Q75.0 xref: OMIM:123155 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:169163 ! Familial scaphocephaly syndrome relationship: part_of Orphanet:269546 ! Syndrome with a Dandy-Walker malformation as major feature relationship: part_of Orphanet:269570 ! Genetic syndrome with a Dandy-Walker malformation as major feature property_value: alternative:term "Braddock-Jones-Superneau syndrome" xsd:string [Term] id: Orphanet:154 name: Familial isolated dilated cardiomyopathy xref: ICD10:I42.0 xref: OMIM:302045 xref: OMIM:600884 xref: OMIM:601154 xref: OMIM:601493 xref: OMIM:601494 xref: OMIM:604145 xref: OMIM:604288 xref: OMIM:604765 xref: OMIM:605582 xref: OMIM:606685 xref: OMIM:607482 xref: OMIM:607487 xref: OMIM:608569 xref: OMIM:609909 xref: OMIM:609915 xref: OMIM:611407 xref: OMIM:611615 xref: OMIM:611878 xref: OMIM:611879 xref: OMIM:611880 xref: OMIM:612158 xref: OMIM:612877 xref: OMIM:613122 xref: OMIM:613172 xref: OMIM:613252 xref: OMIM:613286 xref: OMIM:613424 xref: OMIM:613426 xref: OMIM:613642 xref: OMIM:613694 xref: OMIM:613697 xref: OMIM:613740 xref: OMIM:613881 xref: OMIM:614672 xref: OMIM:615184 xref: OMIM:615235 xref: OMIM:615248 xref: OMIM:615373 xref: OMIM:615396 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:207085 ! Qualitative or quantitative defects of dystrophin relationship: part_of Orphanet:217607 ! Familial dilated cardiomyopathy property_value: alternative:term "Familial or idiopathic dilated cardiomyopathy" xsd:string [Term] id: Orphanet:1540 name: Jackson-Weiss syndrome xref: ICD10:Q87.8 xref: MESH:C537559 xref: OMIM:123150 xref: UMLS:C0795998 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis property_value: alternative:term "Craniosynostosis - midfacial hypoplasia - foot abnormalities" xsd:string property_value: alternative:term "JWS" xsd:string [Term] id: Orphanet:1541 name: Craniosynostosis, Boston type xref: ICD10:Q75.8 xref: OMIM:604757 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis property_value: alternative:term "Craniosynostosis, Warman type" xsd:string property_value: alternative:term "Warman-Mulliken-Hayward syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Craniosynostosis, Boston type (CSB) is a rare syndromic craniosynostosis chiefly characterized by forehead retrusion, frontal bossing, turribrachycephaly, and cloverleaf skull with no apparent hand or foot abnormalities." xsd:string [Term] id: Orphanet:1544 name: Adolescent benign focal crisis xref: ICD10:G40.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98260 ! Adolescent-onset epilepsy syndrome [Term] id: Orphanet:1545 name: Crisponi syndrome xref: ICD10:Q87.8 xref: MESH:C536214 xref: OMIM:601378 xref: UMLS:C1832409 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:1037 ! Arthrogryposis multiplex congenita relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:1546 name: Cryptococcosis xref: ICD10:B45 xref: MEDDRA:10011490 xref: MESH:D003453 xref: SNOMED CT:42386007 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163588 ! Rare parasitic disease [Term] id: Orphanet:1547 name: Cryptomicrotia - brachydactyly - excess fingertip arch xref: ICD10:Q87.8 xref: OMIM:123560 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Cryptomicrotia-brachydactyly syndrome" xsd:string property_value: alternative:term "Tonoki-Ohura-Niikawa syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cryptomicrotia - brachydactyly - excess fingertip arch describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits ii through v, hypoplastic toenails and excess fingertip arch patterns, reported in one family (mother and son) to date. Cryptomicrotia - brachydactyly - excess fingertip arch is suggested to follow an autosomal dominant transmission. No new updates since 1988." xsd:string [Term] id: Orphanet:1548 name: Cryptorchidism - arachnodactyly - intellectual deficit xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Van Benthem-Driessen-Hanveld syndrome" xsd:string [Term] id: Orphanet:1549 name: Cryptosporidiosis xref: ICD10:A07.2 xref: MEDDRA:10011502 xref: MESH:D003457 xref: SNOMED CT:240370009 xref: SNOMED CT:58777003 xref: UMLS:C0010418 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163588 ! Rare parasitic disease [Term] id: Orphanet:1551 name: Familial benign copper deficiency xref: ICD10:E83.0 xref: MESH:C535468 xref: OMIM:121270 xref: UMLS:C1852576 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:309839 ! Disorder of copper metabolism [Term] id: Orphanet:1552 name: Currarino triad xref: ICD10:Q42 xref: MESH:C536221 xref: OMIM:176450 xref: SNOMED CT:413936007 xref: UMLS:C1531773 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:180148 ! Syndromic uterovaginal malformation relationship: part_of Orphanet:93454 ! Dysostosis with predominant vertebral and costal involvement property_value: alternative:term "Currarino syndrome" xsd:string [Term] id: Orphanet:1553 name: Curry-Jones syndrome xref: ICD10:Q87.0 xref: OMIM:601707 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:199639 ! Syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "Corpus callosum agenesis - polysyndactyly" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Curry-Jones syndrome is a rare syndromic craniosynsostosis chiefly characterized by unilateral craniofacial malformations, polysyndactyly, and defects in skin and gastrointestinal tract development." xsd:string [Term] id: Orphanet:1555 name: Cutis gyrata - acanthosis nigricans - craniosynostosis xref: ICD10:Q87.8 xref: OMIM:123790 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:183472 ! Genetic dermis disorder relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:79381 ! Unclassified dermis disorder property_value: alternative:term "Beare-Stevenson cutis gyrata syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cutis Gyrata - Acanthosis nigricans - craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a rare autosomal dominant disorder characterized by cutis gyrata, craniosynostosis, acanthosis nigricans, anogenital anomalies, and an intellectual disability." xsd:string [Term] id: Orphanet:1556 name: Cutis marmorata telangiectatica congenita xref: ICD10:Q82.8 xref: MESH:C536226 xref: OMIM:219250 xref: UMLS:C0345419 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:211247 ! Capillary malformation relationship: part_of Orphanet:79379 ! Skin vascular disease property_value: alternative:term "CMTC" xsd:string [Term] id: Orphanet:1557 name: Cutis verticis gyrata - intellectual deficit is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_357225 with label: Primary non-essential cutis verticis gyrata" xsd:string [Term] id: Orphanet:155832 name: Rare head and neck malformation is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis [Term] id: Orphanet:155835 name: Cysts and fistulae of the face and oral cavity xref: ICD10:Q18.0 is_a: Orphanet:96333 ! Rare otorhinolaryngological malformation [Term] id: Orphanet:155838 name: Pinnae fistula or cyst xref: ICD10:Q18.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:155835 ! Cysts and fistulae of the face and oral cavity [Term] id: Orphanet:155867 name: Paramedian facial cleft xref: ICD10:Q18.8 is_a: Orphanet:141229 ! Facial cleft property_value: alternative:term "Tessier number 1-1 and 2-12 facial cleft" xsd:string [Term] id: Orphanet:155878 name: Submucosal cleft palate xref: ICD10:Q35.9 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:2014 ! Cleft palate [Term] id: Orphanet:155884 name: Coloboma of superior eyelid xref: ICD10:Q10.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:141253 ! Oblique facial cleft property_value: alternative:term "Superior palpebral coloboma" xsd:string [Term] id: Orphanet:155889 name: Coloboma of inferior eyelid xref: ICD10:Q10.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:141253 ! Oblique facial cleft property_value: alternative:term "Inferior palpebral coloboma" xsd:string [Term] id: Orphanet:155896 name: Otomandibular dysplasia is_a: Orphanet:68329 ! Rare maxillo-facial surgical disease is_a: Orphanet:96333 ! Rare otorhinolaryngological malformation [Term] id: Orphanet:155899 name: Mandibulofacial dysostosis xref: ICD10:Q75.4 xref: MEDDRA:10051456 xref: MESH:D008342 xref: UMLS:C0242387 is_a: Orphanet:155896 ! Otomandibular dysplasia property_value: alternative:term "Bilateral and symmetric oto-mandibular dysplasia" xsd:string [Term] id: Orphanet:156 name: Carnitine palmitoyl transferase 1A deficiency xref: ICD10:E71.3 xref: OMIM:255120 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309130 ! Disorder of carnitine cycle and carnitine transport property_value: alternative:term "Carnitine palmitoyl transferase IA deficiency" xsd:string property_value: alternative:term "CPT1A deficiency" xsd:string property_value: alternative:term "Hepatic carnitine palmitoyl transferase 1 deficiency" xsd:string property_value: alternative:term "Hepatic carnitine palmitoyl transferase I deficiency" xsd:string property_value: alternative:term "L-CPT1 deficiency" xsd:string property_value: alternative:term "L-CPTI deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure." xsd:string [Term] id: Orphanet:1560 name: Cysticercosis xref: ICD10:B69 xref: MEDDRA:10011775 xref: MESH:D003551 xref: SNOMED CT:105684008 xref: SNOMED CT:59051007 xref: UMLS:C0010678 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163588 ! Rare parasitic disease [Term] id: Orphanet:156005 name: Primary glaucoma is_a: Orphanet:359 ! Hereditary glaucoma [Term] id: Orphanet:156071 name: Keratoconus xref: ICD10:H18.6 xref: MEDDRA:10023353 xref: MESH:D007640 xref: SNOMED CT:65636009 xref: UMLS:C0022578 is_a: Orphanet:101435 ! Rare genetic eye disease [Term] id: Orphanet:156077 name: NK2 homeobox 1 xref: ENSEMBL:ENSG00000136352 xref: GENATLAS:NKX2-1 xref: HGNC:11825 xref: OMIM:600635 xref: UNIPROTKB/SWISSPROT:P43699 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1429 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Benign familial chorea relationship: Orphanet:317343 Orphanet:209905 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brain-lung-thyroid syndrome relationship: Orphanet:317343 Orphanet:95713 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Athyreosis relationship: Orphanet:317343 Orphanet:95720 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thyroid hypoplasia relationship: Orphanet:317345 Orphanet:146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Papillary or follicular thyroid carcinoma property_value: alternative:term "BCH" xsd:string property_value: alternative:term "benign chorea" xsd:string property_value: alternative:term "benign chorea gene" xsd:string property_value: alternative:term "NKX2A" xsd:string property_value: alternative:term "Thyroid transcription factor 1" xsd:string property_value: alternative:term "TITF1" xsd:string property_value: alternative:term "TTF-1" xsd:string property_value: alternative:term "TTF1" xsd:string property_value: symbol "NKX2-1" xsd:string [Term] id: Orphanet:1561 name: Fatal infantile cytochrome C oxidase deficiency xref: ICD10:G71.3 xref: OMIM:604377 xref: OMIM:615119 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:2443 ! Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies property_value: alternative:term "Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency" xsd:string property_value: alternative:term "Fatal infantile COX deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy." xsd:string [Term] id: Orphanet:156140 name: Predominantly large-vessel vasculitis is_a: Orphanet:52759 ! Vasculitis [Term] id: Orphanet:156143 name: Predominantly medium-vessel vasculitis is_a: Orphanet:52759 ! Vasculitis [Term] id: Orphanet:156146 name: Predominantly small-vessel vasculitis is_a: Orphanet:52759 ! Vasculitis [Term] id: Orphanet:156149 name: Immune complex mediated vasculitis is_a: Orphanet:156146 ! Predominantly small-vessel vasculitis [Term] id: Orphanet:156152 name: Anti-neutrophil cytoplasmic antibody-associated vasculitis xref: MESH:D056648 xref: UMLS:C2717865 is_a: Orphanet:156146 ! Predominantly small-vessel vasculitis is_a: Orphanet:264973 ! Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis property_value: alternative:term "AAV" xsd:string property_value: alternative:term "ANCA-associated vasculitis" xsd:string property_value: alternative:term "Antineutrophil cytoplasmic antibody-associated vasculitis" xsd:string [Term] id: Orphanet:156156 name: Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98305 ! Genetic lipodystrophy [Term] id: Orphanet:156159 name: Isolated dystonia xref: ICD10:G24.1 is_a: Orphanet:68363 ! Rare dystonia property_value: alternative:term "Pure dystonia" xsd:string [Term] id: Orphanet:1562 name: Dacryocystitis - osteopoikilosis xref: MESH:C536061 xref: OMIM:166705 xref: UMLS:C1833698 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density property_value: alternative:term "Gunal-Seber-Basaran syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dacryocystitis - osteopoikilosis syndrome is characterized by the association of dacryocystitis and osteopoikilosis. Dacryocystitis, an infection of the lacrymal sac, is likely to develop in case of stenosis of lacrymal canal, this stenosis being linked with the bone defect." xsd:string [Term] id: Orphanet:156202 name: Otomandibular dysplasia associated with monogenic syndromes is_a: Orphanet:155896 ! Otomandibular dysplasia [Term] id: Orphanet:156207 name: Macroglossia xref: ICD10:Q38.2 xref: MEDDRA:10025391 xref: MESH:C531735 xref: MESH:D008260 xref: SNOMED CT:270516002 xref: UMLS:C0009677 xref: UMLS:C0024421 is_a: Orphanet:155832 ! Rare head and neck malformation is_a: Orphanet:183583 ! Genetic head and neck malformation is_a: Orphanet:68329 ! Rare maxillo-facial surgical disease [Term] id: Orphanet:156212 name: Hypoglossia/aglossia xref: ICD10:Q38.3 is_a: Orphanet:155832 ! Rare head and neck malformation is_a: Orphanet:183583 ! Genetic head and neck malformation is_a: Orphanet:68329 ! Rare maxillo-facial surgical disease [Term] id: Orphanet:156215 name: Oromandibular-limb anomalies syndrome is_a: Orphanet:156212 ! Hypoglossia/aglossia [Term] id: Orphanet:156224 name: Paralytic facial malformation xref: ICD10:Q87.0 is_a: Orphanet:155832 ! Rare head and neck malformation is_a: Orphanet:183583 ! Genetic head and neck malformation is_a: Orphanet:68329 ! Rare maxillo-facial surgical disease [Term] id: Orphanet:156230 name: Facial arteriovenous malformation xref: ICD10:Q27.3 is_a: Orphanet:211266 ! Arteriovenous malformation [Term] id: Orphanet:156237 name: Syndrome or malformation associated with head and neck malformations is_a: Orphanet:68329 ! Rare maxillo-facial surgical disease is_a: Orphanet:96333 ! Rare otorhinolaryngological malformation [Term] id: Orphanet:156243 name: Pinnae and external auditory canal anomaly is_a: Orphanet:96333 ! Rare otorhinolaryngological malformation [Term] id: Orphanet:156246 name: Nose and cavum anomaly xref: ICD10:Q30 is_a: Orphanet:96333 ! Rare otorhinolaryngological malformation [Term] id: Orphanet:156249 name: Larynx anomaly xref: ICD10:Q31 is_a: Orphanet:96333 ! Rare otorhinolaryngological malformation [Term] id: Orphanet:156252 name: Tracheal anomaly is_a: Orphanet:96333 ! Rare otorhinolaryngological malformation [Term] id: Orphanet:1563 name: Dahlberg-Borer-Newcomer syndrome xref: ICD10:Q87.8 xref: MESH:C535769 xref: OMIM:247410 xref: UMLS:C1855477 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:181402 ! Syndrome with hypoparathyroidism relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:89832 ! Syndromic lymphedema property_value: alternative:term "Dahlberg syndrome" xsd:string property_value: alternative:term "Lymphedema - hypoparathyroidism syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapsed and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthrichoses, nail abnormalities. Inheritance is not clear but includes autosomal recessive and X-linked recessive inheritance." xsd:string [Term] id: Orphanet:1564 name: Dandy-Walker malformation - facial hemangioma xref: ICD10:Q03.1 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:211237 ! Vascular tumor relationship: part_of Orphanet:269546 ! Syndrome with a Dandy-Walker malformation as major feature [Term] id: Orphanet:156532 name: Rare syndrome with cardiac malformations is_a: Orphanet:97965 ! Rare surgical cardiac disease is_a: Orphanet:98054 ! Rare genetic cardiac disease [Term] id: Orphanet:1566 name: Dandy-Walker malformation - postaxial polydactyly xref: ICD10:Q87.8 xref: MESH:C535771 xref: OMIM:220220 xref: UMLS:C1857351 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "DWM with postaxial polydactyly" xsd:string property_value: alternative:term "Pierquin syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dandy-Walker malformation with postaxial polydactyly is a syndromic disorder with as a major feature the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by posterior fossa cyst communicating with the fourth ventricle, partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly include tetramelic postaxial polydactyly of hands and feet with possible enlargement of fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals." xsd:string [Term] id: Orphanet:156601 name: Rare genetic hepatic disease is_a: Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:156604 name: Genetic parenchymatous liver disease is_a: Orphanet:156601 ! Rare genetic hepatic disease [Term] id: Orphanet:156607 name: Genetic biliary tract disease is_a: Orphanet:156601 ! Rare genetic hepatic disease [Term] id: Orphanet:156610 name: Rare genetic respiratory disease is_a: Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:156619 name: Rare genetic urogenital disease is_a: Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:156622 name: Genetic urogenital tract malformation is_a: Orphanet:156619 ! Rare genetic urogenital disease [Term] id: Orphanet:156629 name: Genetic hypertension is_a: Orphanet:93618 ! Rare cause of hypertension is_a: Orphanet:98056 ! Rare genetic renal disease [Term] id: Orphanet:156638 name: Rare genetic endocrine disease is_a: Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:156723 name: Piepkorn dysplasia is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_1263 with label: Boomerang dysplasia" xsd:string [Term] id: Orphanet:156728 name: Spondyloepimetaphyseal dysplasia, matrilin-3 type xref: ICD10:Q77.7 xref: OMIM:608728 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia property_value: alternative:term "SEMD, MATN3-related" xsd:string property_value: alternative:term "SEMD, matrilin-3 type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands." xsd:string [Term] id: Orphanet:156731 name: Dyssegmental dysplasia, Rolland-Desbuquois type xref: ICD10:Q77.7 xref: MESH:C537999 xref: OMIM:224400 xref: SNOMED CT:95243004 xref: UMLS:C0432209 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia [Term] id: Orphanet:1568 name: Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures xref: ICD10:Q23.8 xref: OMIM:304340 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:269546 ! Syndrome with a Dandy-Walker malformation as major feature relationship: part_of Orphanet:269567 ! Genetic syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition." xsd:string [Term] id: Orphanet:1569 name: De Sanctis-Cacchione syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_910 with label: Xeroderma pigmentosum" xsd:string [Term] id: Orphanet:157 name: Carnitine palmitoyl transferase II deficiency xref: ICD10:E71.3 xref: MESH:C535589 xref: OMIM:255110 xref: OMIM:600649 xref: OMIM:608836 xref: SNOMED CT:238002005 xref: UMLS:C0342790 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206953 ! Muscular lipidosis relationship: part_of Orphanet:309130 ! Disorder of carnitine cycle and carnitine transport property_value: alternative:term "Carnitine palmitoyltransferase deficiency type 2" xsd:string property_value: alternative:term "CPT2" xsd:string property_value: alternative:term "CPTII" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form (see these terms)." xsd:string [Term] id: Orphanet:1570 name: Symbrachydactyly of hands and feet xref: ICD10:Q73.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:294937 ! Brachydactyly relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: alternative:term "De Smet-Fabry-Fryns syndrome" xsd:string [Term] id: Orphanet:1571 name: Knobloch syndrome xref: ICD10:Q15.8 xref: MESH:C537209 xref: OMIM:267750 xref: UMLS:C1849409 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:98670 ! Vitreoretinal degeneration property_value: alternative:term "Knobloch-Layer syndrome" xsd:string property_value: alternative:term "Retinal detachment - occipital encephalocele" xsd:string [Term] id: Orphanet:1572 name: Common variable immunodeficiency xref: ICD10:D83 xref: MEDDRA:10021449 xref: MESH:D017074 xref: OMIM:146830 xref: OMIM:240500 xref: OMIM:607594 xref: OMIM:613493 xref: OMIM:613494 xref: OMIM:613495 xref: OMIM:613496 xref: OMIM:614699 xref: OMIM:614700 xref: OMIM:615559 xref: OMIM:615577 xref: SNOMED CT:23238000 xref: UMLS:C0009447 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:101977 ! Immunodeficiency predominantly affecting antibody production relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome property_value: alternative:term "CVID" xsd:string property_value: alternative:term "Idiopathic immunoglobulin deficiency" xsd:string property_value: alternative:term "Primary antibody deficiency" xsd:string property_value: alternative:term "Primary hypogammaglobulinemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria." xsd:string [Term] id: Orphanet:157215 name: Hereditary hypophosphatemic rickets with hypercalciuria xref: ICD10:E83.3 xref: OMIM:241530 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:437 ! Hypophosphatemic rickets property_value: alternative:term "HHRH" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia." xsd:string [Term] id: Orphanet:1573 name: Hypotrichosis with juvenile macular degeneration xref: ICD10:Q84.0 xref: OMIM:601553 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy property_value: alternative:term "HJMD" xsd:string property_value: alternative:term "Hypotrichosis with juvenile macular dystrophy" xsd:string [Term] id: Orphanet:1574 name: Retinal degeneration - nanophthalmos - glaucoma xref: OMIM:267760 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: part_of Orphanet:71862 ! Retinal dystrophy property_value: alternative:term "Mackay-Shek-Carr syndrome" xsd:string [Term] id: Orphanet:1576 name: Infantile bilateral striatal necrosis xref: ICD10:G23.2 xref: OMIM:271930 xref: OMIM:500003 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:306695 ! Miscellaneous movement disorder due to neurodegenerative disease relationship: part_of Orphanet:307058 ! Miscellaneous movement disorder due to genetic neurodegenerative disease property_value: alternative:term "IBSN" xsd:string property_value: alternative:term "Infantile striatonigral degeneration" xsd:string property_value: alternative:term "Infantile striatonigral necrosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)." xsd:string [Term] id: Orphanet:157713 name: Congenital or early infantile CACH syndrome xref: ICD10:E75.2 xref: OMIM:603896 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:135 ! CACH syndrome [Term] id: Orphanet:157716 name: Late infantile CACH syndrome xref: ICD10:E75.2 xref: OMIM:603896 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:135 ! CACH syndrome [Term] id: Orphanet:157719 name: Juvenile or adult CACH syndrome xref: ICD10:E75.2 xref: OMIM:603896 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:135 ! CACH syndrome [Term] id: Orphanet:157769 name: Situs ambiguus xref: ICD10:Q89.3 xref: MEDDRA:10059119 xref: SNOMED CT:14821001 xref: UMLS:C0266642 xref: UMLS:C1167664 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:271853 ! Genetic cardiac anomaly relationship: part_of Orphanet:450 ! Heterotaxia property_value: alternative:term "Incomplete situs inversus" xsd:string property_value: alternative:term "Partial situs inversus" xsd:string property_value: alternative:term "Situs ambiguous" xsd:string [Term] id: Orphanet:157788 name: Hypospadias - hypertelorism - coloboma and deafness xref: ICD10:Q87.0 xref: OMIM:603463 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98558 ! Rare eye disease due to a differentiation anomaly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hypospadias-hypertelorism-coloboma and deafness is a very rare syndrome consisting of short stature, facial dysmorphism, hypospadias and mixed hearing loss." xsd:string [Term] id: Orphanet:157791 name: Epithelioid hemangioendothelioma xref: ICD10:D18.0 xref: MESH:D018323 xref: SNOMED CT:403981003 xref: SNOMED CT:84290008 xref: UMLS:C0206732 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:211237 ! Vascular tumor [Term] id: Orphanet:157794 name: Hereditary mixed polyposis syndrome xref: ICD10:D12.6 xref: OMIM:601228 xref: OMIM:610069 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:104010 ! Intestinal polyposis syndrome relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:363314 ! Genetic intestinal polyposis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated." xsd:string [Term] id: Orphanet:157798 name: Hyperplastic polyposis syndrome xref: ICD10:D12.6 xref: OMIM:175020 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:104010 ! Intestinal polyposis syndrome relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:363314 ! Genetic intestinal polyposis [Term] id: Orphanet:1578 name: Dehydratase deficiency xref: ICD10:E70.1 xref: OMIM:264070 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:238583 ! Hyperphenylalaninemia property_value: alternative:term "Hyperphenylalaninemia due to dehydratase deficiency" xsd:string property_value: alternative:term "Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency" xsd:string [Term] id: Orphanet:157801 name: Mesoaxial synostotic syndactyly with phalangeal reduction xref: ICD10:Q70 xref: OMIM:609432 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90025 ! Syndactyly property_value: alternative:term "MSSD" xsd:string property_value: alternative:term "Syndactyly type 9" xsd:string property_value: alternative:term "Syndactyly, Malik-Percin type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly." xsd:string [Term] id: Orphanet:157808 name: Congenital pseudoarthrosis of the limbs xref: OMIM:609143 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:109011 ! Nonsyndromic limb malformation relationship: part_of Orphanet:364568 ! Dysostosis with limb anomaly as a major feature [Term] id: Orphanet:157820 name: Cold-induced sweating syndrome xref: ICD10:G60.8 xref: OMIM:272430 xref: OMIM:610313 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:140477 ! Autosomal recessive hereditary sensory and autonomic neuropathy property_value: alternative:term "CISS" xsd:string [Term] id: Orphanet:157823 name: Klüver-Bucy syndrome xref: MEDDRA:10066431 xref: MESH:D020232 xref: UMLS:C0270707 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:166490 ! Infectious disease with epilepsy relationship: part_of Orphanet:98252 ! Infectious encephalitis [Term] id: Orphanet:157826 name: Congenital epulis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:71209 ! Rare soft tissue tumor property_value: alternative:term "Congenital gingival cell tumor" xsd:string property_value: alternative:term "Congenital granular cell tumor" xsd:string [Term] id: Orphanet:157832 name: Craniorhiny xref: ICD10:Q30.8 xref: OMIM:123050 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:156246 ! Nose and cavum anomaly [Term] id: Orphanet:157835 name: Paroxysmal hemicrania xref: ICD10:G44.8 xref: MEDDRA:10019461 xref: MESH:D051302 xref: SNOMED CT:443094001 xref: UMLS:C1399352 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98022 ! Rare headache [Term] id: Orphanet:157843 name: Trigeminal autonomic cephalalgia xref: ICD10:G44.8 xref: MESH:D051303 xref: UMLS:C1565172 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98022 ! Rare headache [Term] id: Orphanet:157846 name: Neuroferritinopathy xref: ICD10:G23.0 xref: MESH:C548080 xref: OMIM:606159 xref: UMLS:C1853578 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:158266 ! Huntington disease-like syndrome relationship: part_of Orphanet:309842 ! Disorder of iron metabolism and transport relationship: part_of Orphanet:385 ! Neurodegeneration with brain iron accumulation property_value: alternative:term "Adult basal ganglia disease" xsd:string property_value: alternative:term "Ferritin-related neurodegeneration" xsd:string property_value: alternative:term "Hereditary ferritinopathy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits." xsd:string [Term] id: Orphanet:157850 name: Pantothenate kinase-associated neurodegeneration xref: ICD10:G23.0 xref: MESH:D006211 xref: OMIM:234200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:263440 ! Neuroacanthocytosis relationship: part_of Orphanet:309833 ! Disorder of other vitamins and cofactors metabolism and transport relationship: part_of Orphanet:352306 ! Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement relationship: part_of Orphanet:385 ! Neurodegeneration with brain iron accumulation relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa relationship: part_of Orphanet:98713 ! Metabolic disease with pigmentary retinitis property_value: alternative:term "Hallervorden-Spatz syndrome" xsd:string property_value: alternative:term "NBIA1" xsd:string property_value: alternative:term "Neurodegeneration with brain iron accumulation type 1" xsd:string property_value: alternative:term "PKAN" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA; see this term), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system." xsd:string [Term] id: Orphanet:157855 name: HARP syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_216866 with label: Classic pantothenate kinase associated neurodegeneration" xsd:string [Term] id: Orphanet:157941 name: Huntington disease-like 1 xref: OMIM:603218 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:280400 ! Inherited prion disease relationship: part_of Orphanet:306719 ! Neurodegenerative disease with chorea property_value: alternative:term "Early onset prion disease with prominent psychiatric features" xsd:string property_value: alternative:term "HDL1" xsd:string [Term] id: Orphanet:157946 name: Huntington disease-like 3 xref: OMIM:604802 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:158266 ! Huntington disease-like syndrome relationship: part_of Orphanet:306695 ! Miscellaneous movement disorder due to neurodegenerative disease relationship: part_of Orphanet:307058 ! Miscellaneous movement disorder due to genetic neurodegenerative disease property_value: alternative:term "HDL3" xsd:string [Term] id: Orphanet:157949 name: Combined immunodeficiency with skin granulomas xref: ICD10:D81.1 xref: OMIM:233650 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency relationship: part_of Orphanet:183494 ! Genetic immune deficiency with skin involvement relationship: part_of Orphanet:79391 ! Immune deficiency with skin involvement property_value: alternative:term "CID due to RAG 1/2 deficiency" xsd:string property_value: alternative:term "Combined immunodeficiency due to RAG 1/2 deficiency" xsd:string [Term] id: Orphanet:157954 name: ANE syndrome xref: OMIM:612079 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:181387 ! Syndrome with hypogonadotropic hypogonadism relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:79364 ! Alopecia relationship: part_of Orphanet:95495 ! Disease associated with nonacquired combined pituitary hormone deficiency property_value: alternative:term "Alopecia - progressive neurological defect - endocrinopathy" xsd:string [Term] id: Orphanet:157962 name: Oculoauricular syndrome, Schorderet type xref: ICD10:Q87.8 xref: OMIM:612109 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98554 ! Major induction processes eye anomaly [Term] id: Orphanet:157965 name: Ehlers-Danlos syndrome, spondylocheirodysplastic type xref: ICD10:Q79.6 xref: OMIM:612350 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:98249 ! Ehlers-Danlos syndrome property_value: alternative:term "EDS, spondylocheirodysplastic type" xsd:string [Term] id: Orphanet:157973 name: Congenital muscular dystrophy due to LMNA mutation xref: ICD10:G71.2 xref: OMIM:613205 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:97242 ! Congenital muscular dystrophy property_value: alternative:term "L-CMD" xsd:string property_value: alternative:term "LMNA-related congenital muscular dystrophy" xsd:string [Term] id: Orphanet:157987 name: Non-Langerhans cell histiocytosis xref: ICD10:D76.3 xref: MESH:D015616 xref: UMLS:C0019624 is_a: Orphanet:290836 ! Systemic disease with skin involvement [Term] id: Orphanet:157991 name: Generalized eruptive histiocytosis xref: ICD10:D76.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:157987 ! Non-Langerhans cell histiocytosis property_value: alternative:term "Generalized eruptive histiocytoma" xsd:string [Term] id: Orphanet:157997 name: Benign cephalic histiocytosis xref: ICD10:D76.3 xref: SNOMED CT:255192005 xref: UMLS:C0347403 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:157987 ! Non-Langerhans cell histiocytosis [Term] id: Orphanet:158 name: Carnitine uptake deficiency xref: ICD10:E71.3 xref: OMIM:212140 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206953 ! Muscular lipidosis relationship: part_of Orphanet:217616 ! Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy relationship: part_of Orphanet:309130 ! Disorder of carnitine cycle and carnitine transport property_value: alternative:term "Carnitine brain transporter deficiency" xsd:string property_value: alternative:term "Primary systemic carnitine deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Carnitine uptake deficiency is a fatty acid disorder due to defective carnitine transporters, resulting in progressive hypokinetic dilated cardiomyopathy that is generally associated with muscular weakness. This last sign may be major and result in proximal myopathy and amyotrophy. Hypoglycemia- and hypoketosis-linked coma or acute hepatic injuries such as Reye's syndrome may occur after periods of fasting or infections." xsd:string [Term] id: Orphanet:1580 name: Distal monosomy 10p xref: ICD10:Q93.5 xref: OMIM:601362 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:261938 ! Partial deletion of the short arm of chromosome 10 property_value: alternative:term "Distal 10p deletion" xsd:string property_value: alternative:term "Monosomy 10pter" xsd:string property_value: alternative:term "Telomeric deletion 10p" xsd:string [Term] id: Orphanet:158000 name: Juvenile xanthogranuloma xref: ICD10:D76.3 xref: MESH:D014972 xref: SNOMED CT:400031009 xref: SNOMED CT:400204000 xref: UMLS:C0043324 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:157987 ! Non-Langerhans cell histiocytosis [Term] id: Orphanet:158003 name: Xanthoma disseminatum xref: ICD10:D76.3 xref: SNOMED CT:399970005 xref: UMLS:C0043322 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:157987 ! Non-Langerhans cell histiocytosis property_value: alternative:term "Montgomery syndrome" xsd:string [Term] id: Orphanet:158008 name: Papular xanthoma xref: ICD10:D76.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:157987 ! Non-Langerhans cell histiocytosis [Term] id: Orphanet:158011 name: Necrobiotic xanthogranuloma xref: ICD10:D76.3 xref: MESH:D058252 xref: SNOMED CT:404164003 xref: UMLS:C1275339 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:157987 ! Non-Langerhans cell histiocytosis [Term] id: Orphanet:158014 name: Rosaï-Dorfman disease xref: ICD10:D76.3 xref: OMIM:602782 xref: SNOMED CT:34287003 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:240266 ! Systemic non-Langerhans cell histiocytosis property_value: alternative:term "Destombes-Rosaï-Dorfman disease" xsd:string property_value: alternative:term "Rosaï-Dorfman-Destombes disease" xsd:string property_value: alternative:term "SHML" xsd:string property_value: alternative:term "Sinus histiocytosis with massive lymphadenopathy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Rosai-Dorfman disease is a rare benign non-Langerhans cell histiocytosis characterized by the development of large painless histiocytic masses in the lymph nodes, predominantly of the cervical region. Extranodal involvement can also be observed, such as in the skin, respiratory tract, bones, genitourinary system, soft tissue, oral cavity, and central nervous system. Additional findings may include fever, malaise, epistaxis, night sweats, weight loss, leukocytosis, elevated erythrocyte sedimentation rate and hypergammaglobulinemia." xsd:string [Term] id: Orphanet:158019 name: Indeterminate cell histiocytosis xref: ICD10:D76.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:157987 ! Non-Langerhans cell histiocytosis [Term] id: Orphanet:158022 name: Progressive nodular histiocytosis xref: ICD10:D76.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:157987 ! Non-Langerhans cell histiocytosis [Term] id: Orphanet:158025 name: Hereditary progressive mucinous histiocytosis xref: ICD10:D76.3 xref: OMIM:142630 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:157987 ! Non-Langerhans cell histiocytosis [Term] id: Orphanet:158029 name: Sea-blue histiocytosis xref: ICD10:D76.3 xref: OMIM:269600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:240266 ! Systemic non-Langerhans cell histiocytosis relationship: part_of Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:158032 name: Hemophagocytic syndrome xref: SNOMED CT:127069007 is_a: Orphanet:98004 ! Rare immune disease property_value: alternative:term "Hemophagocytic lymphohistiocytosis" xsd:string property_value: alternative:term "HLH" xsd:string [Term] id: Orphanet:158038 name: Primary hemophagocytic lymphohistiocytosis is_a: Orphanet:158032 ! Hemophagocytic syndrome is_a: Orphanet:169361 ! Immune dysregulation disease with immunodeficiency property_value: alternative:term "Genetic hemophagocytic lymphohistiocytosis" xsd:string [Term] id: Orphanet:158041 name: Secondary hemophagocytic lymphohistiocytosis is_a: Orphanet:158032 ! Hemophagocytic syndrome property_value: alternative:term "Acquired hemophagocytic lymphohistiocytosis" xsd:string property_value: alternative:term "Reactive hemophagocytic syndrome" xsd:string [Term] id: Orphanet:158048 name: Hemophagocytic syndrome associated with an infection xref: SNOMED CT:190959006 is_a: Orphanet:377793 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! particular clinical situation in a disease or syndrome relationship: part_of Orphanet:158041 ! Secondary hemophagocytic lymphohistiocytosis property_value: alternative:term "IAHS" xsd:string property_value: alternative:term "VAHS" xsd:string property_value: alternative:term "Virus-associated hemophagocytis syndrome" xsd:string [Term] id: Orphanet:158057 name: Acquired hemophagocytic lymphohistiocytosis associated with a malignant disease is_a: Orphanet:377793 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! particular clinical situation in a disease or syndrome relationship: part_of Orphanet:158041 ! Secondary hemophagocytic lymphohistiocytosis [Term] id: Orphanet:158061 name: Macrophage activation syndrome xref: MEDDRA:10053867 xref: MESH:D055501 xref: SNOMED CT:430478003 xref: UMLS:C1096155 is_a: Orphanet:377792 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical syndrome relationship: part_of Orphanet:158041 ! Secondary hemophagocytic lymphohistiocytosis relationship: part_of Orphanet:182222 ! Rare systemic disease [Term] id: Orphanet:158065 name: aspartyl-tRNA synthetase 2, mitochondrial xref: ENSEMBL:ENSG00000117593 xref: GENATLAS:DARS2 xref: HGNC:25538 xref: OMIM:610956 xref: REACTOME:Q6PI48 xref: UNIPROTKB/SWISSPROT:Q6PI48 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:137898 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation property_value: alternative:term "Aspartate tRNA ligase 2, mitochondrial" xsd:string property_value: alternative:term "FLJ10514" xsd:string property_value: symbol "DARS2" xsd:string [Term] id: Orphanet:158072 name: pyruvate dehyrogenase phosphatase catalytic subunit 1 xref: ENSEMBL:ENSG00000164951 xref: GENATLAS:PDP1 xref: HGNC:9279 xref: OMIM:605993 xref: REACTOME:Q9P0J1 xref: UNIPROTKB/SWISSPROT:Q9P0J1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79246 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pyruvate dehydrogenase phosphatase deficiency property_value: alternative:term "PDH" xsd:string property_value: alternative:term "PDP" xsd:string property_value: alternative:term "PPM2C" xsd:string property_value: alternative:term "protein phosphatase 2C, magnesium-dependent, catalytic subunit" xsd:string property_value: symbol "PDP1" xsd:string [Term] id: Orphanet:158077 name: trehalase (brush-border membrane glycoprotein) xref: ENSEMBL:ENSG00000118094 xref: GENATLAS:TREH xref: HGNC:12266 xref: OMIM:275360 xref: REACTOME:O43280 xref: UNIPROTKB/SWISSPROT:O43280 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:103909 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Diarrhea-vomiting due to trehalase deficiency property_value: alternative:term "alpha,alpha-trehalase" xsd:string property_value: alternative:term "alpha,alpha-trehalose glucohydrolase" xsd:string property_value: alternative:term "MGC129621" xsd:string property_value: alternative:term "TRE" xsd:string property_value: alternative:term "TREA" xsd:string property_value: symbol "TREH" xsd:string [Term] id: Orphanet:158087 name: patatin-like phospholipase domain containing 6 xref: ENSEMBL:ENSG00000032444 xref: GENATLAS:PNPLA6 xref: HGNC:16268 xref: OMIM:603197 xref: UNIPROTKB/SWISSPROT:Q8IY17 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:139480 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 39 property_value: alternative:term "iPLA2delta" xsd:string property_value: alternative:term "neuropathy target esterase" xsd:string property_value: alternative:term "NTE" xsd:string property_value: alternative:term "SPG39" xsd:string property_value: alternative:term "SWS" xsd:string property_value: symbol "PNPLA6" xsd:string [Term] id: Orphanet:1581 name: Non-distal monosomy 10q xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262083 ! Partial monosomy of the long arm of chromosome 10 property_value: alternative:term "Non-distal 10q deletion" xsd:string property_value: alternative:term "Non-telomeric monosomy 10q" xsd:string [Term] id: Orphanet:158124 name: Genetic dementia is_a: Orphanet:71859 ! Rare genetic neurological disease [Term] id: Orphanet:158266 name: Huntington disease-like syndrome is_a: Orphanet:183500 ! Genetic neurodegenerative disease is_a: Orphanet:89043 ! Rare dementia property_value: alternative:term "Huntington disease phenocopy syndrome" xsd:string [Term] id: Orphanet:158300 name: Rare genetic hematologic disease is_a: Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:158372 name: B-cell CLL/lymphoma 6 xref: ENSEMBL:ENSG00000113916 xref: GENATLAS:BCL6 xref: HGNC:1001 xref: OMIM:109565 xref: UNIPROTKB/SWISSPROT:P41182 is_a: Orphanet:C010 ! gene relationship: Orphanet:317344 Orphanet:98838 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary mediastinal large B-cell lymphoma relationship: Orphanet:317344 Orphanet:98839 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intravascular large B-cell lymphoma relationship: Orphanet:317348 Orphanet:545 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Follicular lymphoma property_value: alternative:term "B-cell CLL/lymphoma 6 (zinc finger protein 51)" xsd:string property_value: alternative:term "BCL5" xsd:string property_value: alternative:term "BCL6A" xsd:string property_value: alternative:term "LAZ3" xsd:string property_value: alternative:term "ZBTB27" xsd:string property_value: alternative:term "zinc finger protein 51" xsd:string property_value: alternative:term "ZNF51" xsd:string property_value: symbol "BCL6" xsd:string [Term] id: Orphanet:158379 name: complement factor B xref: ENSEMBL:ENSG00000243649 xref: GENATLAS:CFB xref: HGNC:1037 xref: IUPHAR:2339 xref: OMIM:138470 xref: REACTOME:P00751 xref: UNIPROTKB/SWISSPROT:P00751 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:93578 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Atypical hemolytic uremic syndrome with B factor anomaly property_value: alternative:term "B-factor, properdin" xsd:string property_value: alternative:term "BF" xsd:string property_value: alternative:term "BFD" xsd:string property_value: alternative:term "H2-Bf" xsd:string property_value: symbol "CFB" xsd:string [Term] id: Orphanet:158382 name: ribosomal protein S17 xref: ENSEMBL:ENSG00000184779 xref: GENATLAS:RPS17 xref: HGNC:10397 xref: OMIM:180472 xref: REACTOME:P08708 xref: UNIPROTKB/SWISSPROT:P08708 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:124 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Blackfan-Diamond anemia property_value: alternative:term "MGC72007" xsd:string property_value: alternative:term "RPS17L1" xsd:string property_value: alternative:term "RPS17L2" xsd:string property_value: alternative:term "S17" xsd:string property_value: symbol "RPS17" xsd:string [Term] id: Orphanet:158384 name: ATXN8 opposite strand (non-protein coding) xref: ENSEMBL:ENSG00000230223 xref: GENATLAS:ATXN8OS xref: HGNC:10561 xref: OMIM:603680 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98760 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 8 property_value: alternative:term "Ataxin 8 opposite strand" xsd:string property_value: alternative:term "kelch-like 1 antisense (Drosophila)" xsd:string property_value: alternative:term "KLHL1AS" xsd:string property_value: alternative:term "NCRNA00003" xsd:string property_value: alternative:term "non-protein coding RNA 3" xsd:string property_value: alternative:term "SCA8" xsd:string property_value: alternative:term "spinocerebellar ataxia 8" xsd:string property_value: symbol "ATXN8OS" xsd:string [Term] id: Orphanet:158386 name: bone morphogenetic protein 15 xref: ENSEMBL:ENSG00000130385 xref: GENATLAS:BMP15 xref: HGNC:1068 xref: OMIM:300247 xref: UNIPROTKB/SWISSPROT:O95972 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:243 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XX gonadal dysgenesis property_value: alternative:term "GDF9B" xsd:string property_value: symbol "BMP15" xsd:string [Term] id: Orphanet:158388 name: sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A xref: ENSEMBL:ENSG00000196189 xref: GENATLAS:SEMA4A xref: HGNC:10729 xref: OMIM:607292 xref: REACTOME:Q9H3S1 xref: UNIPROTKB/SWISSPROT:Q9H3S1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone rod dystrophy relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "CORD10" xsd:string property_value: alternative:term "FLJ12287" xsd:string property_value: alternative:term "RP35" xsd:string property_value: alternative:term "SEMAB" xsd:string property_value: alternative:term "SemB" xsd:string property_value: symbol "SEMA4A" xsd:string [Term] id: Orphanet:158394 name: sema domain, seven thrombospondin repeats, transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A xref: ENSEMBL:ENSG00000112902 xref: GENATLAS:SEMA5A xref: HGNC:10736 xref: OMIM:609297 xref: REACTOME:Q13591 xref: UNIPROTKB/SWISSPROT:Q13591 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:281 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Monosomy 5p property_value: alternative:term "SEMAF" xsd:string property_value: alternative:term "semF" xsd:string property_value: symbol "SEMA5A" xsd:string [Term] id: Orphanet:158398 name: single-minded family bHLH transcription factor 1 xref: ENSEMBL:ENSG00000112246 xref: GENATLAS:SIM1 xref: HGNC:10882 xref: OMIM:603128 xref: UNIPROTKB/SWISSPROT:P81133 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:369873 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Obesity due to SIM1 deficiency relationship: Orphanet:317349 Orphanet:171829 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 6q16 deletion syndrome property_value: alternative:term "bHLHe14" xsd:string property_value: alternative:term "single-minded (Drosophila) homolog 1" xsd:string property_value: alternative:term "Single-minded homolog 1 (Drosophila)" xsd:string property_value: symbol "SIM1" xsd:string [Term] id: Orphanet:158401 name: solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 xref: ENSEMBL:ENSG00000018280 xref: GENATLAS:SLC11A1 xref: HGNC:10907 xref: OMIM:600266 xref: REACTOME:P49279 xref: UNIPROTKB/SWISSPROT:P49279 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:3389 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Tuberculosis property_value: alternative:term "LSH" xsd:string property_value: alternative:term "natural resistance-associated macrophage protein 1" xsd:string property_value: alternative:term "NRAMP" xsd:string property_value: alternative:term "NRAMP1" xsd:string property_value: alternative:term "Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1" xsd:string property_value: symbol "SLC11A1" xsd:string [Term] id: Orphanet:158407 name: solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 xref: ENSEMBL:ENSG00000075415 xref: GENATLAS:SLC25A3 xref: HGNC:10989 xref: OMIM:600370 xref: UNIPROTKB/SWISSPROT:Q00325 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:91130 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cardiomyopathy - hypotonia - lactic acidosis property_value: alternative:term "'Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3'" xsd:string property_value: alternative:term "PHC" xsd:string property_value: symbol "SLC25A3" xsd:string [Term] id: Orphanet:158410 name: solute carrier family 2 (facilitated glucose transporter), member 1 xref: ENSEMBL:ENSG00000117394 xref: GENATLAS:SLC2A1 xref: HGNC:11005 xref: OMIM:138140 xref: REACTOME:P11166 xref: UNIPROTKB/SWISSPROT:P11166 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:168577 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary cryohydrocytosis with reduced stomatin relationship: Orphanet:317343 Orphanet:1942 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epilepsy with myoclonic-astatic seizures relationship: Orphanet:317343 Orphanet:53583 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity relationship: Orphanet:317343 Orphanet:64280 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Childhood absence epilepsy relationship: Orphanet:317343 Orphanet:71277 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Encephalopathy due to GLUT1 deficiency relationship: Orphanet:317343 Orphanet:98811 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Paroxysmal exertion-induced dyskinesia property_value: alternative:term "DYT18" xsd:string property_value: alternative:term "GLUT" xsd:string property_value: alternative:term "GLUT1" xsd:string property_value: alternative:term "HTLVR" xsd:string property_value: alternative:term "human T-cell leukemia virus (I and II) receptor" xsd:string property_value: symbol "SLC2A1" xsd:string [Term] id: Orphanet:158412 name: solute carrier family 6 (neurotransmitter transporter), member 5 xref: ENSEMBL:ENSG00000165970 xref: GENATLAS:SLC6A5 xref: HGNC:11051 xref: OMIM:604159 xref: REACTOME:Q9Y345 xref: UNIPROTKB/SWISSPROT:Q9Y345 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3197 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary hyperekplexia property_value: alternative:term "glycine transporter 2" xsd:string property_value: alternative:term "GLYT2" xsd:string property_value: alternative:term "NET1" xsd:string property_value: alternative:term "Solute carrier family 6 (neurotransmitter transporter, glycine), member 5" xsd:string property_value: symbol "SLC6A5" xsd:string [Term] id: Orphanet:158415 name: solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 xref: ENSEMBL:ENSG00000198689 xref: GENATLAS:SLC9A6 xref: HGNC:11079 xref: OMIM:300231 xref: REACTOME:Q92581 xref: UNIPROTKB/SWISSPROT:Q92581 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:85278 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Christianson syndrome property_value: alternative:term "KIAA0267" xsd:string property_value: alternative:term "NHE6" xsd:string property_value: alternative:term "solute carrier family 9 (sodium/hydrogen exchanger), isoform 6" xsd:string property_value: alternative:term "Solute carrier family 9 (sodium/hydrogen exchanger), member 6" xsd:string property_value: symbol "SLC9A6" xsd:string [Term] id: Orphanet:158446 name: synovial sarcoma, X breakpoint 2 xref: ENSEMBL:ENSG00000241476 xref: GENATLAS:SSX2 xref: HGNC:11336 xref: OMIM:300192 xref: UNIPROTKB/SWISSPROT:Q16385 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:3273 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Synovial sarcoma property_value: alternative:term "cancer/testis antigen family 5, member 2a" xsd:string property_value: alternative:term "CT5.2a" xsd:string property_value: alternative:term "HD21" xsd:string property_value: alternative:term "HOM-MEL-40" xsd:string property_value: alternative:term "MGC119055" xsd:string property_value: alternative:term "MGC15364" xsd:string property_value: alternative:term "MGC3884" xsd:string property_value: alternative:term "sarcoma, synovial, X-chromosome-related 2" xsd:string property_value: alternative:term "SSX" xsd:string property_value: alternative:term "synovial sarcoma, X breakpoint 2, isoform b" xsd:string property_value: alternative:term "synovial sarcoma, X breakpoint 2B" xsd:string property_value: symbol "SSX2" xsd:string [Term] id: Orphanet:158461 name: succinate-CoA ligase, alpha subunit xref: ENSEMBL:ENSG00000163541 xref: GENATLAS:SUCLG1 xref: HGNC:11449 xref: OMIM:611224 xref: REACTOME:P53597 xref: UNIPROTKB/SWISSPROT:P53597 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:17 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fatal infantile lactic acidosis with methylmalonic aciduria property_value: alternative:term "Succinate-CoA ligase, GDP-forming, alpha subunit" xsd:string property_value: symbol "SUCLG1" xsd:string [Term] id: Orphanet:158581 name: TAR DNA binding protein xref: ENSEMBL:ENSG00000120948 xref: GENATLAS:TARDBP xref: HGNC:11571 xref: OMIM:605078 xref: UNIPROTKB/SWISSPROT:Q13148 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:275872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Frontotemporal dementia with motor neuron disease relationship: Orphanet:317343 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis property_value: alternative:term "ALS10" xsd:string property_value: alternative:term "TDP-43" xsd:string property_value: symbol "TARDBP" xsd:string [Term] id: Orphanet:158583 name: HNF1 homeobox A xref: ENSEMBL:ENSG00000135100 xref: GENATLAS:HNF1A xref: HGNC:11621 xref: OMIM:142410 xref: REACTOME:P20823 xref: UNIPROTKB/SWISSPROT:P20823 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:324575 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperinsulinism due to HNF1A deficiency relationship: Orphanet:317343 Orphanet:552 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MODY syndrome property_value: alternative:term "HNF1" xsd:string property_value: alternative:term "LFB1" xsd:string property_value: alternative:term "MODY3" xsd:string property_value: alternative:term "TCF1" xsd:string property_value: alternative:term "transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor" xsd:string property_value: symbol "HNF1A" xsd:string [Term] id: Orphanet:158588 name: HNF1 homeobox B xref: ENSEMBL:ENSG00000108753 xref: GENATLAS:HNF1B xref: HGNC:11630 xref: OMIM:189907 xref: REACTOME:P35680 xref: UNIPROTKB/SWISSPROT:P35680 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1331 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial prostate cancer relationship: Orphanet:317343 Orphanet:34528 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant primary hypomagnesemia with hypocalcuria relationship: Orphanet:317343 Orphanet:93111 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Renal cysts and diabetes syndrome relationship: Orphanet:317349 Orphanet:261265 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 17q12 microdeletion syndrome relationship: Orphanet:327767 Orphanet:247775 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Classic Mayer-Rokitansky-Küster-Hauser syndrome relationship: Orphanet:327767 Orphanet:2578 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MURCS association property_value: alternative:term "HNF1beta" xsd:string property_value: alternative:term "LFB3" xsd:string property_value: alternative:term "MODY5" xsd:string property_value: alternative:term "TCF2" xsd:string property_value: alternative:term "transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor" xsd:string property_value: alternative:term "VHNF1" xsd:string property_value: symbol "HNF1B" xsd:string [Term] id: Orphanet:158595 name: transcription factor 4 xref: ENSEMBL:ENSG00000196628 xref: GENATLAS:TCF4 xref: HGNC:11634 xref: OMIM:602272 xref: REACTOME:P15884 xref: UNIPROTKB/SWISSPROT:P15884 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178469 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic intellectual deficit relationship: Orphanet:317343 Orphanet:2896 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pitt-Hopkins syndrome relationship: Orphanet:317343 Orphanet:672 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pallister-Hall syndrome relationship: Orphanet:317343 Orphanet:98974 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fuchs endothelial corneal dystrophy relationship: Orphanet:317345 Orphanet:171 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary sclerosing cholangitis property_value: alternative:term "bHLHb19" xsd:string property_value: alternative:term "E2-2" xsd:string property_value: alternative:term "ITF2" xsd:string property_value: alternative:term "SEF2-1B" xsd:string property_value: symbol "TCF4" xsd:string [Term] id: Orphanet:158661 name: Suprabasal epidermolysis bullosa simplex xref: ICD10:Q81.0 is_a: Orphanet:304 ! Epidermolysis bullosa simplex [Term] id: Orphanet:158665 name: Basal epidermolysis bullosa simplex xref: ICD10:Q81.0 is_a: Orphanet:304 ! Epidermolysis bullosa simplex [Term] id: Orphanet:158668 name: Epidermolysis bullosa simplex due to plakophilin deficiency xref: ICD10:Q81.0 xref: MESH:C536183 xref: OMIM:604536 xref: UMLS:C1858302 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:158661 ! Suprabasal epidermolysis bullosa simplex relationship: part_of Orphanet:263676 ! Hereditary epidermolysis bullosa associated with ocular features relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Ectodermal dysplasia - skin fragility syndrome" xsd:string property_value: alternative:term "McGrath syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering." xsd:string [Term] id: Orphanet:158673 name: Acral dystrophic epidermolysis bullosa xref: ICD10:Q81.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:303 ! Dystrophic epidermolysis bullosa property_value: alternative:term "DEB, acral" xsd:string property_value: alternative:term "DEB-ac" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet." xsd:string [Term] id: Orphanet:158676 name: Dystrophic epidermolysis bullosa, nails only xref: ICD10:Q81.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:303 ! Dystrophic epidermolysis bullosa property_value: alternative:term "DEB-na" xsd:string property_value: alternative:term "Nails-only DEB" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails." xsd:string [Term] id: Orphanet:158681 name: Epidermolysis bullosa simplex with circinate migratory erythema xref: ICD10:Q81.0 xref: OMIM:609352 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:158665 ! Basal epidermolysis bullosa simplex property_value: alternative:term "EBS-migr" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema." xsd:string [Term] id: Orphanet:158684 name: Epidermolysis bullosa simplex with pyloric atresia xref: ICD10:Q81.0 xref: OMIM:612138 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:158665 ! Basal epidermolysis bullosa simplex property_value: alternative:term "EBS-PA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia." xsd:string [Term] id: Orphanet:158687 name: Lethal acantholytic epidermolysis bullosa xref: ICD10:Q81.0 xref: MESH:C535493 xref: OMIM:609638 xref: UMLS:C1864826 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:158661 ! Suprabasal epidermolysis bullosa simplex property_value: alternative:term "LAEB" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized oozing erosions, usually in the absence of blisters." xsd:string [Term] id: Orphanet:1587 name: Monosomy 13q14 xref: ICD10:Q93.5 xref: OMIM:613884 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:262101 ! Partial deletion of the long arm of chromosome 13 relationship: part_of Orphanet:98574 ! Syndromic epicanthus relationship: part_of Orphanet:98642 ! Chromosomal anomaly with cataract property_value: alternative:term "Del(13)(q14)" xsd:string property_value: alternative:term "Deletion 13q14 syndrome" xsd:string [Term] id: Orphanet:158766 name: Typical urticaria pigmentosa is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:79457 ! Maculopapular cutaneous mastocytosis [Term] id: Orphanet:158769 name: Plaque-form urticaria pigmentosa is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:79457 ! Maculopapular cutaneous mastocytosis [Term] id: Orphanet:158772 name: Nodular urticaria pigmentosa is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:79457 ! Maculopapular cutaneous mastocytosis [Term] id: Orphanet:158775 name: Smouldering systemic mastocytosis is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:98848 ! Indolent systemic mastocytosis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM; see this term). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients that present with splenomegaly, hypercellular marrow and in some cases, uticaria pigmentosa-like skin lesions." xsd:string [Term] id: Orphanet:158778 name: Isolated bone marrow mastocytosis is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:98848 ! Indolent systemic mastocytosis [Term] id: Orphanet:158793 name: Lymphoadenopathic mastocytosis with eosinophilia is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:98850 ! Aggressive systemic mastocytosis [Term] id: Orphanet:158796 name: Classic mast cell leukemia is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98851 ! Mast cell leukemia [Term] id: Orphanet:158799 name: Aleukemic mast cell leukemia is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98851 ! Mast cell leukemia [Term] id: Orphanet:159 name: Carnitine-acylcarnitine translocase deficiency xref: ICD10:E71.3 xref: OMIM:212138 xref: SNOMED CT:238003000 xref: UMLS:C0342791 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:217591 ! Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy relationship: part_of Orphanet:309130 ! Disorder of carnitine cycle and carnitine transport property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Carnitine-acylcarnitinetranslocase (CACT) deficiency is a life-threatening, inherited disorder of lipid beta-oxidation which usually presents in the neonatal period with severe hypoketotich ypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy" xsd:string [Term] id: Orphanet:1590 name: Distal monosomy 13q xref: ICD10:Q93.5 xref: OMIM:602553 xref: UMLS:C2930913 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:262101 ! Partial deletion of the long arm of chromosome 13 relationship: part_of Orphanet:98642 ! Chromosomal anomaly with cataract property_value: alternative:term "13q32 deletion" xsd:string property_value: alternative:term "Deletion 13q32" xsd:string property_value: alternative:term "Distal 13q deletion" xsd:string property_value: alternative:term "Monosomy 13q32" xsd:string property_value: alternative:term "Telomeric 13q deletion" xsd:string [Term] id: Orphanet:159040 name: transforming growth factor, alpha xref: ENSEMBL:ENSG00000163235 xref: GENATLAS:TGFA xref: HGNC:11765 xref: OMIM:190170 xref: UNIPROTKB/SWISSPROT:P01135 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99798 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oligodontia property_value: symbol "TGFA" xsd:string [Term] id: Orphanet:159042 name: thymopoietin xref: ENSEMBL:ENSG00000120802 xref: GENATLAS:TMPO xref: HGNC:11875 xref: OMIM:188380 xref: UNIPROTKB/SWISSPROT:P42166 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy property_value: alternative:term "LAP2" xsd:string property_value: alternative:term "LEM domain containing 4" xsd:string property_value: alternative:term "LEMD4" xsd:string property_value: alternative:term "TP" xsd:string property_value: symbol "TMPO" xsd:string [Term] id: Orphanet:159048 name: tumor necrosis factor (ligand) superfamily, member 11 xref: ENSEMBL:ENSG00000120659 xref: GENATLAS:TNFSF11 xref: HGNC:11926 xref: OMIM:602642 xref: UNIPROTKB/SWISSPROT:O14788 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:667 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive malignant osteopetrosis property_value: alternative:term "CD254" xsd:string property_value: alternative:term "ODF" xsd:string property_value: alternative:term "OPGL" xsd:string property_value: alternative:term "RANKL" xsd:string property_value: alternative:term "TRANCE" xsd:string property_value: symbol "TNFSF11" xsd:string [Term] id: Orphanet:159055 name: troponin C type 1 (slow) xref: ENSEMBL:ENSG00000114854 xref: GENATLAS:TNNC1 xref: HGNC:11943 xref: OMIM:191040 xref: REACTOME:P63316 xref: UNIPROTKB/SWISSPROT:P63316 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy property_value: alternative:term "TNNC" xsd:string property_value: alternative:term "Troponin C, slow" xsd:string property_value: symbol "TNNC1" xsd:string [Term] id: Orphanet:159059 name: GRB10 interacting GYF protein 2 xref: ENSEMBL:ENSG00000204120 xref: GENATLAS:GIGYF2 xref: HGNC:11960 xref: OMIM:612003 xref: UNIPROTKB/SWISSPROT:Q6Y7W6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2828 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Young adult-onset Parkinsonism property_value: alternative:term "GYF domain containing 2" xsd:string property_value: alternative:term "GYF2" xsd:string property_value: alternative:term "KIAA0642" xsd:string property_value: alternative:term "PARK11" xsd:string property_value: alternative:term "Parkinson disease (autosomal recessive, early onset) 11" xsd:string property_value: alternative:term "PERQ amino acid rich, with GYF domain 2" xsd:string property_value: alternative:term "PERQ amino acid rich, with GYF domain 3" xsd:string property_value: alternative:term "PERQ2" xsd:string property_value: alternative:term "PERQ3" xsd:string property_value: alternative:term "TNRC15" xsd:string property_value: alternative:term "trinucleotide repeat containing 15" xsd:string property_value: symbol "GIGYF2" xsd:string [Term] id: Orphanet:159075 name: tyrosine kinase 2 xref: ENSEMBL:ENSG00000105397 xref: GENATLAS:TYK2 xref: HGNC:12440 xref: IUPHAR:2269 xref: OMIM:176941 xref: REACTOME:P29597 xref: UNIPROTKB/SWISSPROT:P29597 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:331226 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency relationship: Orphanet:317345 Orphanet:85408 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Juvenile rheumatoid factor-negative polyarthritis relationship: Orphanet:317345 Orphanet:85410 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Oligoarticular juvenile arthritis property_value: alternative:term "JTK1" xsd:string property_value: symbol "TYK2" xsd:string [Term] id: Orphanet:159080 name: ubiquitin-conjugating enzyme E2A xref: ENSEMBL:ENSG00000077721 xref: GENATLAS:UBE2A xref: HGNC:12472 xref: OMIM:312180 xref: REACTOME:P49459 xref: UNIPROTKB/SWISSPROT:P49459 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:163956 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intellectual deficit, X-linked, Nascimento type property_value: alternative:term "HHR6A" xsd:string property_value: alternative:term "RAD6A" xsd:string property_value: alternative:term "UBC2" xsd:string property_value: alternative:term "Ubiquitin-conjugating enzyme E2A (RAD6 homolog)" xsd:string property_value: symbol "UBE2A" xsd:string [Term] id: Orphanet:159084 name: ubiquitin fusion degradation 1 like (yeast) xref: ENSEMBL:ENSG00000070010 xref: GENATLAS:UFD1L xref: HGNC:12520 xref: OMIM:601754 xref: UNIPROTKB/SWISSPROT:Q92890 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:567 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 22q11.2 deletion syndrome property_value: alternative:term "Ubiquitin fusion degradation 1 like" xsd:string property_value: alternative:term "ubiquitin fusion degradation 1-like" xsd:string property_value: alternative:term "UFD1" xsd:string property_value: symbol "UFD1L" xsd:string [Term] id: Orphanet:159087 name: vinculin xref: ENSEMBL:ENSG00000035403 xref: GENATLAS:VCL xref: HGNC:12665 xref: OMIM:193065 xref: REACTOME:P18206 xref: UNIPROTKB/SWISSPROT:P18206 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy property_value: alternative:term "Metavinculin" xsd:string property_value: symbol "VCL" xsd:string [Term] id: Orphanet:159118 name: zinc finger protein 41 xref: ENSEMBL:ENSG00000147124 xref: GENATLAS:ZNF41 xref: HGNC:13107 xref: OMIM:314995 xref: REACTOME:P51814 xref: UNIPROTKB/SWISSPROT:P51814 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit property_value: alternative:term "MGC8941" xsd:string property_value: alternative:term "MRX89" xsd:string property_value: symbol "ZNF41" xsd:string [Term] id: Orphanet:159122 name: small nucleolar RNA, C/D box 116 cluster xref: GENATLAS:SNORD116@ xref: HGNC:32781 xref: OMIM:605436 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:177910 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Prader-Willi syndrome due to imprinting mutation relationship: Orphanet:317349 Orphanet:177901 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 relationship: Orphanet:317349 Orphanet:177904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 relationship: Orphanet:317349 Orphanet:177907 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Prader-Willi syndrome due to translocation property_value: alternative:term "HBII-85" xsd:string property_value: alternative:term "PET1" xsd:string property_value: alternative:term "Prader-Willi syndrome chromosome region 1" xsd:string property_value: alternative:term "PWCR1" xsd:string property_value: symbol "SNORD116@" xsd:string [Term] id: Orphanet:159128 name: cytoplasmic FMR1 interacting protein 1 xref: ENSEMBL:ENSG00000068793 xref: GENATLAS:CYFIP1 xref: HGNC:13759 xref: OMIM:606322 xref: UNIPROTKB/SWISSPROT:Q7L576 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:72 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Angelman syndrome property_value: alternative:term "cytoplasmic FMRP interacting protein 1" xsd:string property_value: alternative:term "KIAA0068" xsd:string property_value: alternative:term "P140SRA-1" xsd:string property_value: alternative:term "selective hybridizing clone" xsd:string property_value: alternative:term "SHYC" xsd:string property_value: symbol "CYFIP1" xsd:string [Term] id: Orphanet:159134 name: autism susceptibility candidate 2 xref: ENSEMBL:ENSG00000158321 xref: GENATLAS:AUTS2 xref: HGNC:14262 xref: OMIM:607270 xref: UNIPROTKB/SWISSPROT:Q8WXX7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352490 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autism spectrum disorder due to AUTS2 deficiency relationship: Orphanet:317348 Orphanet:99860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor B-cell acute lymphoblastic leukemia property_value: alternative:term "FBRSL2" xsd:string property_value: alternative:term "KIAA0442" xsd:string property_value: symbol "AUTS2" xsd:string [Term] id: Orphanet:159137 name: NOP10 ribonucleoprotein xref: ENSEMBL:ENSG00000182117 xref: GENATLAS:NOP10 xref: HGNC:14378 xref: OMIM:606471 xref: UNIPROTKB/SWISSPROT:Q9NPE3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1775 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dyskeratosis congenita property_value: alternative:term "homolog of yeast Nop10p" xsd:string property_value: alternative:term "MGC70651" xsd:string property_value: alternative:term "NOLA3" xsd:string property_value: alternative:term "NOP10 ribonucleoprotein homolog (yeast)" xsd:string property_value: alternative:term "NOP10P" xsd:string property_value: alternative:term "nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs)" xsd:string property_value: symbol "NOP10" xsd:string [Term] id: Orphanet:159158 name: maternally expressed 3 (non-protein coding) xref: ENSEMBL:ENSG00000214548 xref: GENATLAS:MEG3 xref: HGNC:14575 xref: OMIM:605636 xref: UNIPROTKB/SWISSPROT:Q9UI56 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:96184 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Maternal uniparental disomy of chromosome 14 relationship: Orphanet:317349 Orphanet:96334 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Paternal uniparental disomy of chromosome 14 property_value: alternative:term "GTL2" xsd:string property_value: alternative:term "LINC00023" xsd:string property_value: alternative:term "long intergenic non-protein coding RNA 23" xsd:string property_value: alternative:term "Maternally expressed 3" xsd:string property_value: alternative:term "NCRNA00023" xsd:string property_value: alternative:term "non-protein coding RNA 23" xsd:string property_value: symbol "MEG3" xsd:string [Term] id: Orphanet:159161 name: retrotransposon-like 1 xref: ENSEMBL:ENSG00000254656 xref: GENATLAS:RTL1 xref: HGNC:14665 xref: OMIM:611896 xref: UNIPROTKB/SWISSPROT:A6NKG5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:96184 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Maternal uniparental disomy of chromosome 14 relationship: Orphanet:317349 Orphanet:96334 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Paternal uniparental disomy of chromosome 14 property_value: alternative:term "Mar1" xsd:string property_value: alternative:term "MART1" xsd:string property_value: alternative:term "PEG11" xsd:string property_value: symbol "RTL1" xsd:string [Term] id: Orphanet:159166 name: lysophosphatidic acid receptor 6 xref: ENSEMBL:ENSG00000139679 xref: GENATLAS:P2RY5 xref: HGNC:15520 xref: IUPHAR:163 xref: OMIM:609239 xref: REACTOME:P43657 xref: UNIPROTKB/SWISSPROT:P43657 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:170 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Woolly hair relationship: Orphanet:317343 Orphanet:55654 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypotrichosis simplex property_value: alternative:term "P2RY5" xsd:string property_value: alternative:term "P2Y5" xsd:string property_value: alternative:term "purinergic receptor P2Y, G-protein coupled, 5" xsd:string property_value: symbol "LPAR6" xsd:string [Term] id: Orphanet:159172 name: fermitin family member 1 xref: ENSEMBL:ENSG00000101311 xref: GENATLAS:FERMT1 xref: HGNC:15889 xref: OMIM:607900 xref: UNIPROTKB/SWISSPROT:Q9BQL6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2907 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary acrokeratotic poikiloderma, Weary type relationship: Orphanet:317343 Orphanet:2908 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kindler syndrome property_value: alternative:term "C20orf42" xsd:string property_value: alternative:term "chromosome 20 open reading frame 42" xsd:string property_value: alternative:term "Fermitin family homolog 1 (Drosophila)" xsd:string property_value: alternative:term "FLJ20116" xsd:string property_value: alternative:term "KIND1" xsd:string property_value: alternative:term "kinderlin" xsd:string property_value: alternative:term "kindlin-1" xsd:string property_value: alternative:term "UNC112A" xsd:string property_value: alternative:term "URP1" xsd:string property_value: symbol "FERMT1" xsd:string [Term] id: Orphanet:159178 name: stereocilin xref: ENSEMBL:ENSG00000242866 xref: GENATLAS:STRC xref: HGNC:16035 xref: OMIM:606440 xref: UNIPROTKB/SWISSPROT:Q7RTU9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB relationship: Orphanet:317349 Orphanet:94064 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Deafness-infertility syndrome property_value: alternative:term "DFNB16" xsd:string property_value: symbol "STRC" xsd:string [Term] id: Orphanet:159181 name: pericentrin xref: ENSEMBL:ENSG00000160299 xref: GENATLAS:PCNT xref: HGNC:16068 xref: OMIM:605925 xref: REACTOME:O95613 xref: UNIPROTKB/SWISSPROT:O95613 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2637 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microcephalic osteodysplastic primordial dwarfism type 2 relationship: Orphanet:317343 Orphanet:808 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Seckel syndrome property_value: alternative:term "KEN" xsd:string property_value: alternative:term "kendrin" xsd:string property_value: alternative:term "KIAA0402" xsd:string property_value: alternative:term "PCN" xsd:string property_value: alternative:term "PCNT2" xsd:string property_value: alternative:term "PCNTB" xsd:string property_value: alternative:term "pericentrin 2 (kendrin)" xsd:string property_value: alternative:term "SCKL4" xsd:string property_value: alternative:term "Seckel syndrome 4" xsd:string property_value: symbol "PCNT" xsd:string [Term] id: Orphanet:159192 name: actinin, alpha 2 xref: ENSEMBL:ENSG00000077522 xref: GENATLAS:ACTN2 xref: HGNC:164 xref: OMIM:102573 xref: REACTOME:P35609 xref: UNIPROTKB/SWISSPROT:P35609 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy property_value: symbol "ACTN2" xsd:string [Term] id: Orphanet:159194 name: DnaJ (Hsp40) homolog, subfamily C, member 30 xref: ENSEMBL:ENSG00000176410 xref: GENATLAS:DNAJC30 xref: HGNC:16410 xref: UNIPROTKB/SWISSPROT:Q96LL9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Williams syndrome property_value: alternative:term "WBSCR18" xsd:string property_value: alternative:term "Williams Beuren syndrome chromosome region 18" xsd:string property_value: symbol "DNAJC30" xsd:string [Term] id: Orphanet:159197 name: CD3d molecule, delta (CD3-TCR complex) xref: ENSEMBL:ENSG00000167286 xref: GENATLAS:CD3D xref: HGNC:1673 xref: OMIM:186790 xref: REACTOME:P04234 xref: UNIPROTKB/SWISSPROT:P04234 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169160 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta property_value: alternative:term "CD3d antigen, delta polypeptide (TiT3 complex)" xsd:string property_value: alternative:term "T3D" xsd:string property_value: symbol "CD3D" xsd:string [Term] id: Orphanet:159200 name: CD3e molecule, epsilon (CD3-TCR complex) xref: ENSEMBL:ENSG00000198851 xref: GENATLAS:CD3E xref: HGNC:1674 xref: OMIM:186830 xref: REACTOME:P07766 xref: UNIPROTKB/SWISSPROT:P07766 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169160 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta property_value: alternative:term "CD3e antigen, epsilon polypeptide (TiT3 complex)" xsd:string property_value: symbol "CD3E" xsd:string [Term] id: Orphanet:159207 name: FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) xref: ENSEMBL:ENSG00000112367 xref: GENATLAS:FIG4 xref: HGNC:16873 xref: OMIM:609390 xref: REACTOME:Q92562 xref: UNIPROTKB/SWISSPROT:Q92562 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:139515 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Charcot-Marie-Tooth disease type 4J relationship: Orphanet:317343 Orphanet:3472 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Yunis-Varon syndrome relationship: Orphanet:317343 Orphanet:35689 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary lateral sclerosis relationship: Orphanet:317343 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis property_value: alternative:term "ALS11" xsd:string property_value: alternative:term "CMT4J" xsd:string property_value: alternative:term "dJ249I4.1" xsd:string property_value: alternative:term "FIG4 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "hSac3" xsd:string property_value: alternative:term "KIAA0274" xsd:string property_value: alternative:term "SAC3" xsd:string property_value: symbol "FIG4" xsd:string [Term] id: Orphanet:159213 name: TRIO and F-actin binding protein xref: ENSEMBL:ENSG00000100106 xref: GENATLAS:TRIOBP xref: HGNC:17009 xref: OMIM:609761 xref: UNIPROTKB/SWISSPROT:Q9H2D6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "DFNB28" xsd:string property_value: alternative:term "HRIHFB2122" xsd:string property_value: alternative:term "KIAA1662" xsd:string property_value: alternative:term "Tara" xsd:string property_value: symbol "TRIOBP" xsd:string [Term] id: Orphanet:159219 name: spectrin repeat containing, nuclear envelope 1 xref: ENSEMBL:ENSG00000131018 xref: GENATLAS:SYNE1 xref: HGNC:17089 xref: OMIM:608441 xref: REACTOME:Q8NF91 xref: UNIPROTKB/SWISSPROT:Q8NF91 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319332 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive myogenic arthrogryposis multiplex congenita relationship: Orphanet:317343 Orphanet:88644 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive ataxia, Beauce type relationship: Orphanet:317343 Orphanet:98853 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Emery-Dreifuss muscular dystrophy property_value: alternative:term "8B" xsd:string property_value: alternative:term "ARCA1" xsd:string property_value: alternative:term "C6orf98" xsd:string property_value: alternative:term "chromosome 6 open reading frame 98" xsd:string property_value: alternative:term "CPG2" xsd:string property_value: alternative:term "dJ45H2.2" xsd:string property_value: alternative:term "Enaptin" xsd:string property_value: alternative:term "KIAA0796" xsd:string property_value: alternative:term "MYNE1" xsd:string property_value: alternative:term "myocyte nuclear envelope protein 1" xsd:string property_value: alternative:term "Nesp1" xsd:string property_value: alternative:term "Nesprin-1" xsd:string property_value: alternative:term "nuclear envelope spectrin repeat-1" xsd:string property_value: alternative:term "SCAR8" xsd:string property_value: alternative:term "SYNE-1B" xsd:string property_value: symbol "SYNE1" xsd:string [Term] id: Orphanet:159228 name: SUZ12 polycomb repressive complex 2 subunit xref: ENSEMBL:ENSG00000178691 xref: GENATLAS:SUZ12 xref: HGNC:17101 xref: OMIM:606245 xref: REACTOME:Q15022 xref: UNIPROTKB/SWISSPROT:Q15022 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:97685 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 17q11 microdeletion syndrome property_value: alternative:term "CHET9" xsd:string property_value: alternative:term "JJAZ1" xsd:string property_value: alternative:term "KIAA0160" xsd:string property_value: alternative:term "Suppressor of zeste 12 homolog (Drosophila)" xsd:string property_value: symbol "SUZ12" xsd:string [Term] id: Orphanet:159233 name: phospholipase C, epsilon 1 xref: ENSEMBL:ENSG00000138193 xref: GENATLAS:PLCE1 xref: HGNC:17175 xref: OMIM:608414 xref: REACTOME:Q9P212 xref: UNIPROTKB/SWISSPROT:Q9P212 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93213 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis relationship: Orphanet:317343 Orphanet:93217 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis property_value: alternative:term "KIAA1516" xsd:string property_value: alternative:term "Nephrosis type 3" xsd:string property_value: alternative:term "NPHS3" xsd:string property_value: alternative:term "PLCE" xsd:string property_value: symbol "PLCE1" xsd:string [Term] id: Orphanet:159242 name: cardiotrophin-like cytokine factor 1 xref: ENSEMBL:ENSG00000175505 xref: GENATLAS:CLCF1 xref: HGNC:17412 xref: OMIM:607672 xref: UNIPROTKB/SWISSPROT:Q9UBD9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:157820 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cold-induced sweating syndrome property_value: alternative:term "B-cell stimulating factor 3" xsd:string property_value: alternative:term "BSF-3" xsd:string property_value: alternative:term "BSF3" xsd:string property_value: alternative:term "CISS2" xsd:string property_value: alternative:term "CLC" xsd:string property_value: alternative:term "cold-induced sweating syndrome 2" xsd:string property_value: alternative:term "cold-induced sweating syndrome 2 gene" xsd:string property_value: alternative:term "CRLF1 associated cytokine-like factor 1" xsd:string property_value: alternative:term "NNT-1" xsd:string property_value: alternative:term "NNT1" xsd:string property_value: alternative:term "novel neurotrophin-1" xsd:string property_value: alternative:term "NR6" xsd:string property_value: symbol "CLCF1" xsd:string [Term] id: Orphanet:159252 name: zinc finger protein 674 xref: ENSEMBL:ENSG00000251192 xref: GENATLAS:ZNF674 xref: HGNC:17625 xref: OMIM:300573 xref: UNIPROTKB/SWISSPROT:Q2M3X9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit property_value: alternative:term "MRX92" xsd:string property_value: alternative:term "ZNF673B" xsd:string property_value: symbol "ZNF674" xsd:string [Term] id: Orphanet:159255 name: porcupine homolog (Drosophila) xref: ENSEMBL:ENSG00000102312 xref: GENATLAS:PORCN xref: HGNC:17652 xref: OMIM:300651 xref: REACTOME:Q9H237 xref: UNIPROTKB/SWISSPROT:Q9H237 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2092 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Focal dermal hypoplasia property_value: alternative:term "MG61" xsd:string property_value: alternative:term "por" xsd:string property_value: alternative:term "PORC" xsd:string property_value: alternative:term "PPN" xsd:string property_value: symbol "PORCN" xsd:string [Term] id: Orphanet:159272 name: radixin xref: ENSEMBL:ENSG00000137710 xref: GENATLAS:RDX xref: HGNC:9944 xref: OMIM:179410 xref: REACTOME:P35241 xref: UNIPROTKB/SWISSPROT:P35241 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "Deafness, autosomal recessive 24" xsd:string property_value: alternative:term "DFNB24" xsd:string property_value: symbol "RDX" xsd:string [Term] id: Orphanet:159298 name: transient receptor potential cation channel, subfamily M, member 7 xref: ENSEMBL:ENSG00000092439 xref: GENATLAS:TRPM7 xref: HGNC:17994 xref: IUPHAR:499 xref: OMIM:605692 xref: REACTOME:Q96QT4 xref: UNIPROTKB/SWISSPROT:Q96QT4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:90020 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Amyotrophic lateral sclerosis-parkinsonism-dementia complex property_value: alternative:term "CHAK1" xsd:string property_value: alternative:term "LTRPC7" xsd:string property_value: alternative:term "TRP-PLIK" xsd:string property_value: symbol "TRPM7" xsd:string [Term] id: Orphanet:159303 name: transmembrane channel-like 6 xref: ENSEMBL:ENSG00000141524 xref: GENATLAS:TMC6 xref: HGNC:18021 xref: OMIM:605828 xref: UNIPROTKB/SWISSPROT:Q7Z403 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:302 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epidermodysplasia verruciformis property_value: alternative:term "epidermodysplasia verruciformis 1" xsd:string property_value: alternative:term "EVER1" xsd:string property_value: alternative:term "EVIN1" xsd:string property_value: alternative:term "LAK-4P" xsd:string property_value: symbol "TMC6" xsd:string [Term] id: Orphanet:159308 name: coiled-coil domain containing 50 xref: ENSEMBL:ENSG00000152492 xref: GENATLAS:CCDC50 xref: HGNC:18111 xref: OMIM:611051 xref: UNIPROTKB/SWISSPROT:Q8IVM0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA property_value: alternative:term "C3orf6" xsd:string property_value: alternative:term "deafness, autosomal dominant 44" xsd:string property_value: alternative:term "DFNA44" xsd:string property_value: alternative:term "Ymer" xsd:string property_value: symbol "CCDC50" xsd:string [Term] id: Orphanet:159313 name: zinc finger, DHHC-type containing 9 xref: ENSEMBL:ENSG00000188706 xref: GENATLAS:ZDHHC9 xref: HGNC:18475 xref: OMIM:300646 xref: UNIPROTKB/SWISSPROT:Q9Y397 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:163953 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intellectual deficit, X-linked, Raymond type relationship: Orphanet:317343 Orphanet:776 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked intellectual deficit with marfanoid habitus property_value: alternative:term "CGI-89" xsd:string property_value: alternative:term "Chromosome X open reading frame 11" xsd:string property_value: alternative:term "CXorf11" xsd:string property_value: alternative:term "ZDHHC10" xsd:string property_value: alternative:term "zinc finger, DHHC-type containing 10" xsd:string property_value: alternative:term "ZNF379" xsd:string property_value: alternative:term "ZNF380" xsd:string property_value: symbol "ZDHHC9" xsd:string [Term] id: Orphanet:159322 name: ATPase, H+ transporting, lysosomal V0 subunit a2 xref: ENSEMBL:ENSG00000185344 xref: GENATLAS:ATP6V0A2 xref: HGNC:18481 xref: OMIM:611716 xref: REACTOME:Q9Y487 xref: UNIPROTKB/SWISSPROT:Q9Y487 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2834 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Wrinkly skin syndrome relationship: Orphanet:317343 Orphanet:357074 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive cutis laxa type 2, classic type property_value: alternative:term "a2" xsd:string property_value: alternative:term "ATP6a2" xsd:string property_value: alternative:term "ATP6N1D" xsd:string property_value: alternative:term "ATPase, H+ transporting, lysosomal V0 subunit a isoform 2" xsd:string property_value: alternative:term "ATPase, H+ transporting, lysosomal V0 subunit A2" xsd:string property_value: alternative:term "infantile malignant osteopetrosis" xsd:string property_value: alternative:term "J6B7" xsd:string property_value: alternative:term "Stv1" xsd:string property_value: alternative:term "TJ6" xsd:string property_value: alternative:term "TJ6M" xsd:string property_value: alternative:term "TJ6s" xsd:string property_value: alternative:term "Vph1" xsd:string property_value: symbol "ATP6V0A2" xsd:string [Term] id: Orphanet:159333 name: lipase, member H xref: ENSEMBL:ENSG00000163898 xref: GENATLAS:LIPH xref: HGNC:18483 xref: OMIM:607365 xref: UNIPROTKB/SWISSPROT:Q8WWY8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:170 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Woolly hair relationship: Orphanet:317343 Orphanet:55654 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypotrichosis simplex property_value: alternative:term "LPDLR" xsd:string property_value: alternative:term "mPA-PLA1" xsd:string property_value: alternative:term "mPA-PLA1alpha" xsd:string property_value: alternative:term "PLA1B" xsd:string property_value: symbol "LIPH" xsd:string [Term] id: Orphanet:159339 name: cation channel, sperm associated 2 xref: ENSEMBL:ENSG00000166762 xref: GENATLAS:CATSPER xref: HGNC:18810 xref: IUPHAR:389 xref: OMIM:607249 xref: REACTOME:Q96P56 xref: UNIPROTKB/SWISSPROT:Q96P56 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:94064 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Deafness-infertility syndrome property_value: symbol "CATSPER2" xsd:string [Term] id: Orphanet:159341 name: tau tubulin kinase 2 xref: ENSEMBL:ENSG00000128881 xref: GENATLAS:TTBK2 xref: HGNC:19141 xref: IUPHAR:2263 xref: OMIM:611695 xref: UNIPROTKB/SWISSPROT:Q6IQ55 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98767 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 11 property_value: alternative:term "KIAA0847" xsd:string property_value: alternative:term "SCA11" xsd:string property_value: alternative:term "spinocerebellar ataxia 11" xsd:string property_value: alternative:term "Spinocerebellar ataxia 11 gene" xsd:string property_value: symbol "TTBK2" xsd:string [Term] id: Orphanet:159345 name: cholinergic receptor, nicotinic, alpha 2 (neuronal) xref: ENSEMBL:ENSG00000120903 xref: GENATLAS:CHRNA2 xref: HGNC:1956 xref: IUPHAR:463 xref: OMIM:118502 xref: REACTOME:Q15822 xref: UNIPROTKB/SWISSPROT:Q15822 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98784 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nocturnal frontal lobe epilepsy property_value: alternative:term "acetylcholine receptor, nicotinic, alpha 2 (neuronal)" xsd:string property_value: alternative:term "Cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)" xsd:string property_value: symbol "CHRNA2" xsd:string [Term] id: Orphanet:159360 name: potassium channel, subfamily V, member 2 xref: ENSEMBL:ENSG00000168263 xref: GENATLAS:KCNV2 xref: HGNC:19698 xref: IUPHAR:566 xref: OMIM:607604 xref: REACTOME:Q8TDN2 xref: UNIPROTKB/SWISSPROT:Q8TDN2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:209932 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone dystrophy with supernormal rod response property_value: alternative:term "Kv8.2" xsd:string property_value: symbol "KCNV2" xsd:string [Term] id: Orphanet:159362 name: visual system homeobox 2 xref: ENSEMBL:ENSG00000119614 xref: GENATLAS:VSX2 xref: HGNC:1975 xref: OMIM:142993 xref: UNIPROTKB/SWISSPROT:P58304 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2542 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated anophthalmia - microphthalmia relationship: Orphanet:317343 Orphanet:2543 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microphthalmia - cataract relationship: Orphanet:317343 Orphanet:98938 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Colobomatous microphthalmia property_value: alternative:term "C elegans ceh-10 homeo domain-containing homolog" xsd:string property_value: alternative:term "ceh-10 homeo domain containing homolog (C. elegans)" xsd:string property_value: alternative:term "ceh-10 homeodomain containing homolog (C. elegans)" xsd:string property_value: alternative:term "CHX10" xsd:string property_value: alternative:term "HOX10" xsd:string property_value: alternative:term "RET1" xsd:string property_value: symbol "VSX2" xsd:string [Term] id: Orphanet:159367 name: sprouty-related, EVH1 domain containing 1 xref: ENSEMBL:ENSG00000166068 xref: GENATLAS:SPRED1 xref: HGNC:20249 xref: OMIM:609291 xref: UNIPROTKB/SWISSPROT:Q7Z699 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:137605 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Legius syndrome property_value: alternative:term "FLJ33903" xsd:string property_value: symbol "SPRED1" xsd:string [Term] id: Orphanet:159370 name: chloride channel, voltage-sensitive Ka xref: ENSEMBL:ENSG00000186510 xref: GENATLAS:CLCNKA xref: HGNC:2026 xref: OMIM:602024 xref: REACTOME:P51800 xref: UNIPROTKB/SWISSPROT:P51800 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:89938 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile Bartter syndrome with deafness property_value: alternative:term "Chloride channel Ka" xsd:string property_value: alternative:term "hClC-Ka" xsd:string property_value: symbol "CLCNKA" xsd:string [Term] id: Orphanet:159373 name: UPF3 regulator of nonsense transcripts homolog B (yeast) xref: ENSEMBL:ENSG00000125351 xref: GENATLAS:UPF3B xref: HGNC:20439 xref: OMIM:300298 xref: REACTOME:Q9BZI7 xref: UNIPROTKB/SWISSPROT:Q9BZI7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:776 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked intellectual deficit with marfanoid habitus relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit property_value: alternative:term "HUPF3B" xsd:string property_value: alternative:term "RENT3B" xsd:string property_value: alternative:term "UPF3X" xsd:string property_value: symbol "UPF3B" xsd:string [Term] id: Orphanet:159387 name: transmembrane channel-like 8 xref: ENSEMBL:ENSG00000167895 xref: GENATLAS:TMC8 xref: HGNC:20474 xref: OMIM:605829 xref: UNIPROTKB/SWISSPROT:Q8IU68 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:302 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epidermodysplasia verruciformis property_value: alternative:term "epidermodysplasia verruciformis 2" xsd:string property_value: alternative:term "EVER2" xsd:string property_value: alternative:term "EVIN2" xsd:string property_value: symbol "TMC8" xsd:string [Term] id: Orphanet:159390 name: zinc finger, FYVE domain containing 26 xref: ENSEMBL:ENSG00000072121 xref: GENATLAS:ZFYVE26 xref: HGNC:20761 xref: OMIM:612012 xref: UNIPROTKB/SWISSPROT:Q68DK2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100996 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 15 property_value: alternative:term "FYVE-CENT" xsd:string property_value: alternative:term "KIAA0321" xsd:string property_value: alternative:term "spastic paraplegia 15 (complicated, autosomal recessive)" xsd:string property_value: alternative:term "spastizin" xsd:string property_value: alternative:term "SPG15" xsd:string property_value: symbol "ZFYVE26" xsd:string [Term] id: Orphanet:159394 name: tubulin, alpha 1a xref: ENSEMBL:ENSG00000167552 xref: GENATLAS:TUBA1A xref: HGNC:20766 xref: IUPHAR:2638 xref: OMIM:602529 xref: REACTOME:Q71U36 xref: UNIPROTKB/SWISSPROT:Q71U36 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171680 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lissencephaly due to TUBA1A mutation property_value: alternative:term "B-ALPHA-1" xsd:string property_value: alternative:term "FLJ25113" xsd:string property_value: alternative:term "TUBA3" xsd:string property_value: alternative:term "Tubulin, alpha, brain-specific" xsd:string property_value: symbol "TUBA1A" xsd:string [Term] id: Orphanet:159403 name: solute carrier family 39 (zinc transporter), member 13 xref: ENSEMBL:ENSG00000165915 xref: GENATLAS:SLC39A13 xref: HGNC:20859 xref: OMIM:608735 xref: UNIPROTKB/SWISSPROT:Q96H72 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:157965 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos syndrome, spondylocheirodysplastic type property_value: alternative:term "FLJ25785" xsd:string property_value: alternative:term "Solute carrier family 39 (metal ion transporter), member 13" xsd:string property_value: symbol "SLC39A13" xsd:string [Term] id: Orphanet:159414 name: lipoma HMGIC fusion partner-like 5 xref: ENSEMBL:ENSG00000197753 xref: GENATLAS:LHFPL5 xref: HGNC:21253 xref: OMIM:609427 xref: UNIPROTKB/SWISSPROT:Q8TAF8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "deafness, autosomal recessive 67" xsd:string property_value: alternative:term "DFNB67" xsd:string property_value: alternative:term "dJ510O8.8" xsd:string property_value: alternative:term "MGC33835" xsd:string property_value: alternative:term "Tmhs" xsd:string property_value: symbol "LHFPL5" xsd:string [Term] id: Orphanet:159421 name: desmoglein 4 xref: ENSEMBL:ENSG00000175065 xref: GENATLAS:DSG4 xref: HGNC:21307 xref: OMIM:607892 xref: UNIPROTKB/SWISSPROT:Q86SJ6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:55654 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypotrichosis simplex relationship: Orphanet:317343 Orphanet:573 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Monilethrix property_value: alternative:term "CDHF13" xsd:string property_value: alternative:term "LAH" xsd:string property_value: symbol "DSG4" xsd:string [Term] id: Orphanet:159426 name: arginyl-tRNA synthetase 2, mitochondrial xref: ENSEMBL:ENSG00000146282 xref: GENATLAS:RARS2 xref: HGNC:21406 xref: OMIM:611524 xref: REACTOME:Q5T160 xref: UNIPROTKB/SWISSPROT:Q5T160 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:166073 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pontocerebellar hypoplasia type 6 relationship: Orphanet:317343 Orphanet:2254 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pontocerebellar hypoplasia type 1 property_value: alternative:term "arginine tRNA ligase 2, mitochondrial (putative)" xsd:string property_value: alternative:term "Arginyl-tRNA synthetase-like" xsd:string property_value: alternative:term "DALRD2" xsd:string property_value: alternative:term "dJ382I10.6" xsd:string property_value: alternative:term "MGC14993" xsd:string property_value: alternative:term "MGC23778" xsd:string property_value: alternative:term "PRO1992" xsd:string property_value: alternative:term "RARSL" xsd:string property_value: symbol "RARS2" xsd:string [Term] id: Orphanet:159434 name: cyclic nucleotide gated channel beta 1 xref: ENSEMBL:ENSG00000070729 xref: GENATLAS:CNGB1 xref: HGNC:2151 xref: IUPHAR:398 xref: OMIM:600724 xref: REACTOME:Q14028 xref: UNIPROTKB/SWISSPROT:Q14028 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "CNCG2" xsd:string property_value: alternative:term "CNCG3L" xsd:string property_value: alternative:term "CNGB1B" xsd:string property_value: alternative:term "GAR1" xsd:string property_value: alternative:term "GARP" xsd:string property_value: alternative:term "glutamic acid-rich protein" xsd:string property_value: alternative:term "RCNC2" xsd:string property_value: alternative:term "RCNCb" xsd:string property_value: alternative:term "RP45" xsd:string property_value: symbol "CNGB1" xsd:string [Term] id: Orphanet:159443 name: topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase xref: ENSEMBL:ENSG00000197579 xref: GENATLAS:TOPORS xref: HGNC:21653 xref: OMIM:609507 xref: UNIPROTKB/SWISSPROT:Q9NS56 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "LUN" xsd:string property_value: alternative:term "Retinitis pigmentosa 31 (autosomal dominant)" xsd:string property_value: alternative:term "RP31" xsd:string property_value: alternative:term "Topoisomerase I binding, arginine/serine-rich" xsd:string property_value: alternative:term "TP53BPL" xsd:string property_value: symbol "TOPORS" xsd:string [Term] id: Orphanet:159449 name: RNA binding motif protein 28 xref: ENSEMBL:ENSG00000106344 xref: GENATLAS:RBM28 xref: HGNC:21863 xref: OMIM:612074 xref: UNIPROTKB/SWISSPROT:Q9NW13 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:157954 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! ANE syndrome property_value: alternative:term "FLJ10377" xsd:string property_value: symbol "RBM28" xsd:string [Term] id: Orphanet:159456 name: mediator complex subunit 13-like xref: ENSEMBL:ENSG00000123066 xref: GENATLAS:MED13L xref: HGNC:22962 xref: OMIM:608771 xref: REACTOME:Q71F56 xref: UNIPROTKB/SWISSPROT:Q71F56 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:369891 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cardiac anomalies-developmental delay-facial dysmorphism syndrome relationship: Orphanet:317343 Orphanet:88616 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive nonsyndromic intellectual deficit property_value: alternative:term "KIAA1025" xsd:string property_value: alternative:term "THRAP2" xsd:string property_value: alternative:term "Thyroid hormone receptor associated protein 2" xsd:string property_value: alternative:term "TRAP240L" xsd:string property_value: symbol "MED13L" xsd:string [Term] id: Orphanet:159463 name: zinc finger protein 469 xref: ENSEMBL:ENSG00000225614 xref: GENATLAS:ZNF469 xref: HGNC:23216 xref: OMIM:612078 xref: UNIPROTKB/SWISSPROT:Q96JG9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90354 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brittle cornea syndrome property_value: alternative:term "KIAA1858" xsd:string property_value: symbol "ZNF469" xsd:string [Term] id: Orphanet:159467 name: ZFP90 zinc finger protein xref: ENSEMBL:ENSG00000184939 xref: GENATLAS:ZFP90 xref: HGNC:23329 xref: OMIM:609451 xref: REACTOME:Q8TF47 xref: UNIPROTKB/SWISSPROT:Q8TF47 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:67047 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 3-methylglutaconic aciduria type 3 property_value: alternative:term "KIAA1954" xsd:string property_value: alternative:term "NK10" xsd:string property_value: alternative:term "Zinc finger protein 90 homolog (mouse)" xsd:string property_value: alternative:term "ZNF756" xsd:string property_value: symbol "ZFP90" xsd:string [Term] id: Orphanet:159472 name: vitamin K epoxide reductase complex, subunit 1 xref: ENSEMBL:ENSG00000167397 xref: GENATLAS:VKORC1 xref: HGNC:23663 xref: IUPHAR:2645 xref: OMIM:608547 xref: REACTOME:Q9BQB6 xref: UNIPROTKB/SWISSPROT:Q9BQB6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98434 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary combined deficiency of vitamin K-dependent clotting factors property_value: alternative:term "Vitamin K dependent clotting factors deficiency 2" xsd:string property_value: alternative:term "VKCFD2" xsd:string property_value: symbol "VKORC1" xsd:string [Term] id: Orphanet:159476 name: colony stimulating factor 3 receptor (granulocyte) xref: ENSEMBL:ENSG00000119535 xref: GENATLAS:CSF3R xref: HGNC:2439 xref: IUPHAR:1719 xref: OMIM:138971 xref: UNIPROTKB/SWISSPROT:Q99062 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:279943 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary neutrophilia relationship: Orphanet:317344 Orphanet:86829 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chronic neutrophilic leukemia relationship: Orphanet:317344 Orphanet:98824 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atypical chronic myeloid leukemia property_value: alternative:term "CD114" xsd:string property_value: alternative:term "CGSFR" xsd:string property_value: alternative:term "GCSFR" xsd:string property_value: symbol "CSF3R" xsd:string [Term] id: Orphanet:159484 name: catenin (cadherin-associated protein), delta 2 xref: ENSEMBL:ENSG00000169862 xref: GENATLAS:CTNND2 xref: HGNC:2516 xref: OMIM:604275 xref: UNIPROTKB/SWISSPROT:Q9UQB3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:281 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Monosomy 5p property_value: alternative:term "Catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)" xsd:string property_value: alternative:term "GT24" xsd:string property_value: alternative:term "neural plakophilin-related arm-repeat protein" xsd:string property_value: alternative:term "NPRAP" xsd:string property_value: symbol "CTNND2" xsd:string [Term] id: Orphanet:159489 name: cathepsin D xref: ENSEMBL:ENSG00000117984 xref: GENATLAS:CTSD xref: HGNC:2529 xref: IUPHAR:2345 xref: OMIM:116840 xref: REACTOME:P07339 xref: UNIPROTKB/SWISSPROT:P07339 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:228337 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CLN10 disease property_value: alternative:term "cathepsin D (lysosomal aspartyl protease)" xsd:string property_value: alternative:term "ceroid-lipofuscinosis, neuronal 10" xsd:string property_value: alternative:term "CLN10" xsd:string property_value: alternative:term "CPSD" xsd:string property_value: symbol "CTSD" xsd:string [Term] id: Orphanet:159494 name: mastermind-like domain containing 1 xref: ENSEMBL:ENSG00000013619 xref: GENATLAS:MAMLD1 xref: HGNC:2568 xref: OMIM:300120 xref: REACTOME:Q13495 xref: UNIPROTKB/SWISSPROT:Q13495 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:440 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hypospadias relationship: Orphanet:317349 Orphanet:596 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! X-linked centronuclear myopathy property_value: alternative:term "CG1" xsd:string property_value: alternative:term "Chromosome X open reading frame 6" xsd:string property_value: alternative:term "CXorf6" xsd:string property_value: alternative:term "F18" xsd:string property_value: symbol "MAMLD1" xsd:string [Term] id: Orphanet:159501 name: nonhomologous end-joining factor 1 xref: ENSEMBL:ENSG00000187736 xref: GENATLAS:NHEJ1 xref: HGNC:25737 xref: OMIM:611290 xref: UNIPROTKB/SWISSPROT:Q9H9Q4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169079 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cernunnos-XLF deficiency relationship: Orphanet:317343 Orphanet:208447 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bilateral generalized polymicrogyria property_value: alternative:term "Cernunnos" xsd:string property_value: alternative:term "FLJ12610" xsd:string property_value: alternative:term "XLF" xsd:string property_value: symbol "NHEJ1" xsd:string [Term] id: Orphanet:159507 name: grainyhead-like 2 (Drosophila) xref: ENSEMBL:ENSG00000083307 xref: GENATLAS:GRHL2 xref: HGNC:2799 xref: OMIM:608576 xref: UNIPROTKB/SWISSPROT:Q6ISB3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA property_value: alternative:term "BOM" xsd:string property_value: alternative:term "Deafness, autosomal dominant 28" xsd:string property_value: alternative:term "DFNA28" xsd:string property_value: alternative:term "FLJ13782" xsd:string property_value: alternative:term "TFCP2L3" xsd:string property_value: alternative:term "transcription factor CP2-like 3" xsd:string property_value: symbol "GRHL2" xsd:string [Term] id: Orphanet:159514 name: family with sequence similarity 58, member A xref: ENSEMBL:ENSG00000147382 xref: GENATLAS:FAM58A xref: HGNC:28434 xref: OMIM:300708 xref: UNIPROTKB/SWISSPROT:Q8N1B3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:140952 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Syndactyly - telecanthus - anogenital and renal malformations property_value: alternative:term "FLJ21610" xsd:string property_value: alternative:term "MGC29729" xsd:string property_value: symbol "FAM58A" xsd:string [Term] id: Orphanet:159517 name: transmembrane protein 43 xref: ENSEMBL:ENSG00000170876 xref: GENATLAS:TMEM43 xref: HGNC:28472 xref: OMIM:612048 xref: UNIPROTKB/SWISSPROT:Q9BTV4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:293888 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, left dominant form relationship: Orphanet:317343 Orphanet:293899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, biventricular form relationship: Orphanet:317343 Orphanet:293910 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated arrhythmogenic ventricular dysplasia, right dominant form relationship: Orphanet:317343 Orphanet:98853 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Emery-Dreifuss muscular dystrophy property_value: alternative:term "arrhythmogenic right ventricular dysplasia 5" xsd:string property_value: alternative:term "ARVD5" xsd:string property_value: alternative:term "DKFZp586G1919" xsd:string property_value: alternative:term "LUMA" xsd:string property_value: alternative:term "MGC3222" xsd:string property_value: symbol "TMEM43" xsd:string [Term] id: Orphanet:159521 name: major facilitator superfamily domain containing 8 xref: ENSEMBL:ENSG00000164073 xref: GENATLAS:MFSD8 xref: HGNC:28486 xref: OMIM:611124 xref: UNIPROTKB/SWISSPROT:Q8NHS3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:228366 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CLN7 disease property_value: alternative:term "ceroid-lipofuscinosis, neuronal 7, late infantile, variant" xsd:string property_value: alternative:term "Ceroid-lipofuscinosis, neuronal 7, late infantile, variant gene" xsd:string property_value: alternative:term "CLN7" xsd:string property_value: alternative:term "MGC33302" xsd:string property_value: symbol "MFSD8" xsd:string [Term] id: Orphanet:159526 name: dihydrofolate reductase xref: ENSEMBL:ENSG00000228716 xref: GENATLAS:DHFR xref: HGNC:2861 xref: IUPHAR:2603 xref: OMIM:126060 xref: REACTOME:P00374 xref: UNIPROTKB/SWISSPROT:P00374 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319651 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Constitutional megaloblastic anemia with severe neurologic disease property_value: symbol "DHFR" xsd:string [Term] id: Orphanet:159528 name: ATP-binding cassette, sub-family A (ABC1), member 1 xref: ENSEMBL:ENSG00000165029 xref: GENATLAS:ABCA1 xref: HGNC:29 xref: OMIM:600046 xref: REACTOME:O95477 xref: UNIPROTKB/SWISSPROT:O95477 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:31150 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tangier disease relationship: Orphanet:317343 Orphanet:425 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Apolipoprotein A-I deficiency property_value: alternative:term "ABC1" xsd:string property_value: alternative:term "HDLDT1" xsd:string property_value: alternative:term "Tangier disease" xsd:string property_value: alternative:term "Tangier disease gene" xsd:string property_value: alternative:term "TGD" xsd:string property_value: symbol "ABCA1" xsd:string [Term] id: Orphanet:159533 name: delta-like 1 homolog (Drosophila) xref: ENSEMBL:ENSG00000185559 xref: GENATLAS:DLK1 xref: HGNC:2907 xref: OMIM:176290 xref: REACTOME:P80370 xref: UNIPROTKB/SWISSPROT:P80370 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:96184 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Maternal uniparental disomy of chromosome 14 relationship: Orphanet:317349 Orphanet:96334 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Paternal uniparental disomy of chromosome 14 property_value: alternative:term "delta-like homolog (Drosophila)" xsd:string property_value: alternative:term "Delta1" xsd:string property_value: alternative:term "FA1" xsd:string property_value: alternative:term "pG2" xsd:string property_value: alternative:term "Pref-1" xsd:string property_value: alternative:term "ZOG" xsd:string property_value: symbol "DLK1" xsd:string [Term] id: Orphanet:159539 name: coiled-coil and C2 domain containing 2A xref: ENSEMBL:ENSG00000048342 xref: GENATLAS:CC2D2A xref: HGNC:29253 xref: OMIM:612013 xref: UNIPROTKB/SWISSPROT:Q9P2K1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1454 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with hepatic defect relationship: Orphanet:317343 Orphanet:2318 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with oculorenal defect relationship: Orphanet:317343 Orphanet:564 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Meckel syndrome property_value: alternative:term "JBTS9" xsd:string property_value: alternative:term "KIAA1345" xsd:string property_value: alternative:term "Meckel syndrome, type 6" xsd:string property_value: alternative:term "MKS6" xsd:string property_value: symbol "CC2D2A" xsd:string [Term] id: Orphanet:159547 name: UbiA prenyltransferase domain containing 1 xref: ENSEMBL:ENSG00000120942 xref: GENATLAS:UBIAD1 xref: HGNC:30791 xref: OMIM:611632 xref: UNIPROTKB/SWISSPROT:Q9Y5Z9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98967 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Schnyder corneal dystrophy property_value: alternative:term "SCCD" xsd:string property_value: alternative:term "Schnyder crystalline corneal dystrophy" xsd:string property_value: alternative:term "TERE1" xsd:string property_value: alternative:term "transitional epithelia response protein" xsd:string property_value: symbol "UBIAD1" xsd:string [Term] id: Orphanet:159550 name: thymidine phosphorylase xref: ENSEMBL:ENSG00000025708 xref: GENATLAS:TYMP xref: HGNC:3148 xref: OMIM:131222 xref: REACTOME:P19971 xref: UNIPROTKB/SWISSPROT:P19971 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:298 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial neurogastrointestinal encephalomyopathy property_value: alternative:term "ECGF1" xsd:string property_value: alternative:term "Endothelial cell growth factor 1 (platelet-derived)" xsd:string property_value: alternative:term "Gliostatin" xsd:string property_value: alternative:term "MNGIE" xsd:string property_value: symbol "TYMP" xsd:string [Term] id: Orphanet:159556 name: enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase xref: ENSEMBL:ENSG00000113790 xref: GENATLAS:EHHADH xref: HGNC:3247 xref: OMIM:607037 xref: UNIPROTKB/SWISSPROT:Q08426 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:300 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bifunctional enzyme deficiency property_value: alternative:term "ECHD" xsd:string property_value: alternative:term "Enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase" xsd:string property_value: symbol "EHHADH" xsd:string [Term] id: Orphanet:159562 name: NK2 homeobox 6 xref: ENSEMBL:ENSG00000180053 xref: GENATLAS:NKX2-6 xref: HGNC:32940 xref: OMIM:611770 xref: UNIPROTKB/SWISSPROT:A6NCS4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3384 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Truncus arteriosus property_value: alternative:term "CSX2" xsd:string property_value: alternative:term "NK2 transcription factor related, locus 6 (Drosophila)" xsd:string property_value: alternative:term "NKX2-4" xsd:string property_value: alternative:term "NKX4-2" xsd:string property_value: alternative:term "tinman paralog (Drosophila)" xsd:string property_value: symbol "NKX2-6" xsd:string [Term] id: Orphanet:159566 name: erythrocyte membrane protein band 4.2 xref: ENSEMBL:ENSG00000166947 xref: GENATLAS:EPB42 xref: HGNC:3381 xref: OMIM:177070 xref: UNIPROTKB/SWISSPROT:P16452 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:822 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary spherocytosis property_value: alternative:term "Erythrocyte surface protein band 4.2" xsd:string property_value: alternative:term "MGC116735" xsd:string property_value: alternative:term "MGC116737" xsd:string property_value: alternative:term "PA" xsd:string property_value: symbol "EPB42" xsd:string [Term] id: Orphanet:159580 name: fibroblast growth factor 3 xref: ENSEMBL:ENSG00000186895 xref: GENATLAS:FGF3 xref: HGNC:3681 xref: OMIM:164950 xref: REACTOME:P11487 xref: UNIPROTKB/SWISSPROT:P11487 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90024 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Deafness with labyrinthine aplasia, microtia, and microdontia relationship: Orphanet:317349 Orphanet:2791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Otodental syndrome relationship: Orphanet:317349 Orphanet:99806 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oculootodental syndrome property_value: alternative:term "Fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)" xsd:string property_value: alternative:term "HBGF-3" xsd:string property_value: alternative:term "INT-2 proto-oncogene protein" xsd:string property_value: alternative:term "INT2" xsd:string property_value: alternative:term "murine mammary tumor virus integration site 2, mouse" xsd:string property_value: alternative:term "oncogene INT2" xsd:string property_value: alternative:term "V-INT2 murine mammary tumor virus integration site oncogene homolog" xsd:string property_value: symbol "FGF3" xsd:string [Term] id: Orphanet:159586 name: four and a half LIM domains 2 xref: ENSEMBL:ENSG00000115641 xref: GENATLAS:FHL2 xref: HGNC:3703 xref: OMIM:602633 xref: REACTOME:Q14192 xref: UNIPROTKB/SWISSPROT:Q14192 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy property_value: alternative:term "DRAL" xsd:string property_value: alternative:term "SLIM3" xsd:string property_value: symbol "FHL2" xsd:string [Term] id: Orphanet:159590 name: fragile X mental retardation associated 3 xref: GENATLAS:FMR3 xref: HGNC:3777 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100973 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! FRAXE intellectual deficit property_value: symbol "FMR3" xsd:string [Term] id: Orphanet:159592 name: fibronectin 1 xref: ENSEMBL:ENSG00000115414 xref: GENATLAS:FN1 xref: HGNC:3778 xref: OMIM:135600 xref: REACTOME:P02751 xref: UNIPROTKB/SWISSPROT:P02751 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:84090 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fibronectin glomerulopathy property_value: alternative:term "CIG" xsd:string property_value: alternative:term "Cold-insoluble globulin" xsd:string property_value: alternative:term "FINC" xsd:string property_value: alternative:term "GFND2" xsd:string property_value: alternative:term "LETS" xsd:string property_value: alternative:term "Migration-stimulating factor" xsd:string property_value: alternative:term "MSF" xsd:string property_value: symbol "FN1" xsd:string [Term] id: Orphanet:1596 name: Distal monosomy 15q xref: ICD10:Q93.5 xref: OMIM:612626 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262119 ! Partial deletion of the long arm of chromosome 15 property_value: alternative:term "15q26 deletion" xsd:string property_value: alternative:term "Distal 15q deletion" xsd:string property_value: alternative:term "Monosomy 15q26" xsd:string property_value: alternative:term "Telomeric 15q deletion" xsd:string [Term] id: Orphanet:159600 name: forkhead box H1 xref: ENSEMBL:ENSG00000160973 xref: GENATLAS:FOXH1 xref: HGNC:3814 xref: OMIM:603621 xref: REACTOME:O75593 xref: UNIPROTKB/SWISSPROT:O75593 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220386 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Semilobar holoprosencephaly relationship: Orphanet:317343 Orphanet:280195 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Septopreoptic holoprosencephaly relationship: Orphanet:317343 Orphanet:280200 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microform holoprosencephaly relationship: Orphanet:317343 Orphanet:93924 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93925 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93926 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Midline interhemispheric variant of holoprosencephaly property_value: alternative:term "FAST1" xsd:string property_value: symbol "FOXH1" xsd:string [Term] id: Orphanet:159608 name: ferritin, heavy polypeptide 1 xref: ENSEMBL:ENSG00000167996 xref: GENATLAS:FTH1 xref: HGNC:3976 xref: OMIM:134770 xref: REACTOME:P02794 xref: UNIPROTKB/SWISSPROT:P02794 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:247790 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! FTH1-related iron overload property_value: alternative:term "apoferritin" xsd:string property_value: alternative:term "FHC" xsd:string property_value: alternative:term "FTH" xsd:string property_value: alternative:term "FTHL6" xsd:string property_value: alternative:term "PIG15" xsd:string property_value: alternative:term "placenta immunoregulatory factor" xsd:string property_value: alternative:term "PLIF" xsd:string property_value: alternative:term "proliferation-inducing protein 15" xsd:string property_value: symbol "FTH1" xsd:string [Term] id: Orphanet:159615 name: fused in sarcoma xref: ENSEMBL:ENSG00000089280 xref: GENATLAS:FUS xref: HGNC:4010 xref: OMIM:137070 xref: REACTOME:P35637 xref: UNIPROTKB/SWISSPROT:P35637 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:300605 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juvenile amyotrophic lateral sclerosis relationship: Orphanet:317343 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis relationship: Orphanet:317345 Orphanet:275872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Frontotemporal dementia with motor neuron disease relationship: Orphanet:317348 Orphanet:79105 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myxofibrosarcoma relationship: Orphanet:317348 Orphanet:99967 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myxoid/round cell liposarcoma property_value: alternative:term "'Fusion (involved in t(12;16) in malignant liposarcoma)'" xsd:string property_value: alternative:term "ALS6" xsd:string property_value: alternative:term "amyotrophic lateral sclerosis 6" xsd:string property_value: alternative:term "FUS1" xsd:string property_value: alternative:term "fusion (involved in t(12;16) in malignant liposarcoma)" xsd:string property_value: alternative:term "Fusion, derived from t(12;16) malignant liposarcoma" xsd:string property_value: alternative:term "heterogeneous nuclear ribonucleoprotein P2" xsd:string property_value: alternative:term "hnRNP-P2" xsd:string property_value: alternative:term "HNRNPP2" xsd:string property_value: alternative:term "TLS" xsd:string property_value: alternative:term "translocated in liposarcoma" xsd:string property_value: symbol "FUS" xsd:string [Term] id: Orphanet:159621 name: gamma-aminobutyric acid (GABA) A receptor, beta 3 xref: ENSEMBL:ENSG00000166206 xref: GENATLAS:GABRB3 xref: HGNC:4083 xref: IUPHAR:412 xref: OMIM:137192 xref: REACTOME:P28472 xref: UNIPROTKB/SWISSPROT:P28472 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:64280 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Childhood absence epilepsy property_value: alternative:term "GABA(A) receptor, beta 3" xsd:string property_value: symbol "GABRB3" xsd:string [Term] id: Orphanet:159623 name: glial cells missing homolog 2 (Drosophila) xref: ENSEMBL:ENSG00000124827 xref: GENATLAS:GCM2 xref: HGNC:4198 xref: OMIM:603716 xref: UNIPROTKB/SWISSPROT:O75603 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2239 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated hypoparathyroidism due to agenesis of parathyroid gland property_value: alternative:term "GCMB" xsd:string property_value: alternative:term "Glial cells missing (Drosophila) homolog b" xsd:string property_value: alternative:term "hGCMb" xsd:string property_value: symbol "GCM2" xsd:string [Term] id: Orphanet:159628 name: gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) xref: ENSEMBL:ENSG00000147437 xref: GENATLAS:GNRH1 xref: HGNC:4419 xref: OMIM:152760 xref: REACTOME:P01148 xref: UNIPROTKB/SWISSPROT:P01148 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:432 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Normosmic congenital hypogonadotropic hypogonadism property_value: alternative:term "GNRH" xsd:string property_value: alternative:term "gonadotropin-releasing hormone 1 (leutinizing-releasing hormone)" xsd:string property_value: alternative:term "GRH" xsd:string property_value: alternative:term "LHRH" xsd:string property_value: symbol "GNRH1" xsd:string [Term] id: Orphanet:159633 name: alpha-methylacyl-CoA racemase xref: ENSEMBL:ENSG00000242110 xref: GENATLAS:AMACR xref: HGNC:451 xref: OMIM:604489 xref: REACTOME:Q9UHK6 xref: UNIPROTKB/SWISSPROT:Q9UHK6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79095 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital bile acid synthesis defect type 4 property_value: alternative:term "RACE" xsd:string property_value: symbol "AMACR" xsd:string [Term] id: Orphanet:1597 name: Distal monosomy 17q xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:262137 ! Partial deletion of the long arm of chromosome 17 property_value: alternative:term "Distal 17q deletion" xsd:string property_value: alternative:term "Monosomy 17qter" xsd:string property_value: alternative:term "Telomeric 17q deletion" xsd:string [Term] id: Orphanet:159700 name: angiogenin, ribonuclease, RNase A family, 5 xref: ENSEMBL:ENSG00000214274 xref: GENATLAS:ANG xref: HGNC:483 xref: OMIM:105850 xref: UNIPROTKB/SWISSPROT:P03950 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis property_value: alternative:term "RNASE5" xsd:string property_value: symbol "ANG" xsd:string [Term] id: Orphanet:159703 name: 3-hydroxyisobutyryl-CoA hydrolase xref: ENSEMBL:ENSG00000198130 xref: GENATLAS:HIBCH xref: HGNC:4908 xref: OMIM:610690 xref: REACTOME:Q6NVY1 xref: UNIPROTKB/SWISSPROT:Q6NVY1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88639 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency property_value: alternative:term "3-hydroxyisobutyryl-Coenzyme A hydrolase" xsd:string property_value: alternative:term "3-hydroxyisobutyryl-Coenzyme A hydrolase gene" xsd:string property_value: symbol "HIBCH" xsd:string [Term] id: Orphanet:159705 name: hepatic leukemia factor xref: ENSEMBL:ENSG00000108924 xref: GENATLAS:HLF xref: HGNC:4977 xref: OMIM:142385 xref: UNIPROTKB/SWISSPROT:Q16534 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:99860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor B-cell acute lymphoblastic leukemia property_value: alternative:term "MGC33822" xsd:string property_value: symbol "HLF" xsd:string [Term] id: Orphanet:159708 name: H6 family homeobox 1 xref: ENSEMBL:ENSG00000215612 xref: GENATLAS:HMX1 xref: HGNC:5017 xref: OMIM:142992 xref: UNIPROTKB/SWISSPROT:Q9NP08 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:157962 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oculoauricular syndrome, Schorderet type property_value: alternative:term "H6" xsd:string property_value: alternative:term "homeo box (H6 family) 1" xsd:string property_value: alternative:term "NKX5-3" xsd:string property_value: symbol "HMX1" xsd:string [Term] id: Orphanet:159716 name: homeobox A2 xref: ENSEMBL:ENSG00000105996 xref: GENATLAS:HOXA2 xref: HGNC:5103 xref: OMIM:604685 xref: UNIPROTKB/SWISSPROT:O43364 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:140963 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bilateral microtia - deafness - cleft palate relationship: Orphanet:317343 Orphanet:83463 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microtia relationship: Orphanet:317343 Orphanet:93976 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Anotia property_value: alternative:term "homeo box A2" xsd:string property_value: alternative:term "HOX1K" xsd:string property_value: symbol "HOXA2" xsd:string [Term] id: Orphanet:159723 name: hydatidiform mole associated and imprinted (non-protein coding) xref: GENATLAS:HYMAI xref: HGNC:5326 xref: OMIM:606546 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:99886 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Transient neonatal diabetes mellitus relationship: Orphanet:317349 Orphanet:96191 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Paternal uniparental disomy of chromosome 6 property_value: alternative:term "Hydatidiform mole associated and imprinted" xsd:string property_value: alternative:term "NCRNA00020" xsd:string property_value: alternative:term "non-protein coding RNA 20" xsd:string property_value: symbol "HYMAI" xsd:string [Term] id: Orphanet:159725 name: intercellular adhesion molecule 1 xref: ENSEMBL:ENSG00000090339 xref: GENATLAS:ICAM xref: HGNC:5344 xref: OMIM:147840 xref: REACTOME:P05362 xref: UNIPROTKB/SWISSPROT:P05362 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chronic mucocutaneous candidiasis property_value: alternative:term "BB2" xsd:string property_value: alternative:term "CD54" xsd:string property_value: alternative:term "human rhinovirus receptor" xsd:string property_value: symbol "ICAM1" xsd:string [Term] id: Orphanet:159729 name: insulin-like growth factor 2 (somatomedin A) xref: ENSEMBL:ENSG00000167244 xref: GENATLAS:IGF2 xref: HGNC:5466 xref: OMIM:147470 xref: REACTOME:P01344 xref: UNIPROTKB/SWISSPROT:P01344 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2128 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemihypertrophy relationship: Orphanet:317343 Orphanet:231117 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 relationship: Orphanet:317343 Orphanet:231140 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Silver-Russell syndrome due to imprinting defect of 11p15 relationship: Orphanet:317343 Orphanet:231144 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Silver-Russell syndrome due to 11p15 microduplication property_value: alternative:term "C11orf43" xsd:string property_value: alternative:term "Chromosome 11 open reading frame 43" xsd:string property_value: alternative:term "FLJ44734" xsd:string property_value: symbol "IGF2" xsd:string [Term] id: Orphanet:159734 name: interleukin 7 receptor xref: ENSEMBL:ENSG00000168685 xref: GENATLAS:IL7R xref: HGNC:6024 xref: OMIM:146661 xref: REACTOME:P16871 xref: UNIPROTKB/SWISSPROT:P16871 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency relationship: Orphanet:317343 Orphanet:39041 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Omenn syndrome property_value: alternative:term "CD127" xsd:string property_value: symbol "IL7R" xsd:string [Term] id: Orphanet:159737 name: potassium voltage-gated channel, Shaw-related subfamily, member 3 xref: ENSEMBL:ENSG00000131398 xref: GENATLAS:KCNC3 xref: HGNC:6235 xref: IUPHAR:550 xref: OMIM:176264 xref: REACTOME:Q14003 xref: UNIPROTKB/SWISSPROT:Q14003 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98768 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 13 property_value: alternative:term "Kv3.3" xsd:string property_value: alternative:term "SCA13" xsd:string property_value: alternative:term "spinocerebellar ataxia 13" xsd:string property_value: symbol "KCNC3" xsd:string [Term] id: Orphanet:159740 name: potassium inwardly-rectifying channel, subfamily J, member 13 xref: ENSEMBL:ENSG00000115474 xref: GENATLAS:KCNJ13 xref: HGNC:6259 xref: IUPHAR:443 xref: OMIM:603208 xref: UNIPROTKB/SWISSPROT:O60928 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:65 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber congenital amaurosis relationship: Orphanet:317343 Orphanet:91496 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Snowflake vitreoretinal degeneration property_value: alternative:term "Kir1.4" xsd:string property_value: alternative:term "Kir7.1" xsd:string property_value: symbol "KCNJ13" xsd:string [Term] id: Orphanet:159744 name: LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase xref: ENSEMBL:ENSG00000106003 xref: GENATLAS:LFNG xref: HGNC:6560 xref: OMIM:602576 xref: REACTOME:Q8NES3 xref: UNIPROTKB/SWISSPROT:Q8NES3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2311 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spondylocostal dysostosis property_value: alternative:term "lunatic fringe (Drosophila) homolog" xsd:string property_value: alternative:term "lunatic fringe homolog (Drosophila)" xsd:string property_value: alternative:term "SCDO3" xsd:string property_value: symbol "LFNG" xsd:string [Term] id: Orphanet:159747 name: low density lipoprotein receptor-related protein 2 xref: ENSEMBL:ENSG00000081479 xref: GENATLAS:LRP2 xref: HGNC:6694 xref: OMIM:600073 xref: REACTOME:P98164 xref: UNIPROTKB/SWISSPROT:P98164 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2143 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Donnai-Barrow syndrome property_value: alternative:term "DBS" xsd:string property_value: alternative:term "gp330" xsd:string property_value: alternative:term "Low density lipoprotein-related protein 2" xsd:string property_value: alternative:term "Megalin" xsd:string property_value: symbol "LRP2" xsd:string [Term] id: Orphanet:159752 name: low density lipoprotein receptor-related protein 6 xref: ENSEMBL:ENSG00000070018 xref: GENATLAS:LRP6 xref: HGNC:6698 xref: OMIM:603507 xref: UNIPROTKB/SWISSPROT:O75581 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:94062 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis property_value: alternative:term "ADCAD2" xsd:string property_value: symbol "LRP6" xsd:string [Term] id: Orphanet:159756 name: mucosa associated lymphoid tissue lymphoma translocation gene 1 xref: ENSEMBL:ENSG00000172175 xref: GENATLAS:MALT1 xref: HGNC:6819 xref: OMIM:604860 xref: REACTOME:Q9UDY8 xref: UNIPROTKB/SWISSPROT:Q9UDY8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:52417 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MALT lymphoma property_value: alternative:term "MLT" xsd:string property_value: alternative:term "Paracaspase" xsd:string property_value: symbol "MALT1" xsd:string [Term] id: Orphanet:159765 name: mercaptopyruvate sulfurtransferase xref: ENSEMBL:ENSG00000128309 xref: GENATLAS:MPST xref: HGNC:7223 xref: OMIM:602496 xref: UNIPROTKB/SWISSPROT:P25325 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1035 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria property_value: alternative:term "human liver rhodanese" xsd:string property_value: alternative:term "MST" xsd:string property_value: alternative:term "TST2" xsd:string property_value: symbol "MPST" xsd:string [Term] id: Orphanet:159769 name: achaete-scute family bHLH transcription factor 1 xref: ENSEMBL:ENSG00000139352 xref: GENATLAS:ASCL1 xref: HGNC:738 xref: OMIM:100790 xref: UNIPROTKB/SWISSPROT:P50553 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:661 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ondine syndrome relationship: Orphanet:317343 Orphanet:99803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Haddad syndrome property_value: alternative:term "achaete-scute complex (Drosophila) homolog-like 1" xsd:string property_value: alternative:term "Achaete-scute complex homolog 1 (Drosophila)" xsd:string property_value: alternative:term "achaete-scute complex-like 1 (Drosophila)" xsd:string property_value: alternative:term "ASH1" xsd:string property_value: alternative:term "bHLHa46" xsd:string property_value: alternative:term "HASH1" xsd:string property_value: symbol "ASCL1" xsd:string [Term] id: Orphanet:159773 name: mitochondrially encoded ATP synthase 8 xref: ENSEMBL:ENSG00000228253 xref: GENATLAS:MT-ATP8 xref: HGNC:7415 xref: OMIM:516070 xref: REACTOME:P03928 xref: UNIPROTKB/SWISSPROT:P03928 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:480 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kearns-Sayre syndrome property_value: alternative:term "A6L" xsd:string property_value: alternative:term "ATP synthase 8" xsd:string property_value: alternative:term "ATP8" xsd:string property_value: alternative:term "MTATP8" xsd:string property_value: symbol "MT-ATP8" xsd:string [Term] id: Orphanet:159785 name: v-myc avian myelocytomatosis viral oncogene homolog xref: ENSEMBL:ENSG00000136997 xref: GENATLAS:MYC xref: HGNC:7553 xref: OMIM:190080 xref: REACTOME:P01106 xref: UNIPROTKB/SWISSPROT:P01106 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:543 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Burkitt lymphoma relationship: Orphanet:317348 Orphanet:99861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor T-cell acute lymphoblastic leukemia property_value: alternative:term "bHLHe39" xsd:string property_value: alternative:term "c-Myc" xsd:string property_value: alternative:term "MYCC" xsd:string property_value: alternative:term "V-myc myelocytomatosis viral oncogene homolog (avian)" xsd:string property_value: symbol "MYC" xsd:string [Term] id: Orphanet:159788 name: nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha xref: ENSEMBL:ENSG00000100906 xref: GENATLAS:NFKBIA xref: HGNC:7797 xref: OMIM:164008 xref: REACTOME:P25963 xref: UNIPROTKB/SWISSPROT:P25963 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98813 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypohidrotic ectodermal dysplasia with immunodeficiency relationship: Orphanet:317347 Orphanet:251576 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gliosarcoma relationship: Orphanet:317347 Orphanet:251579 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Giant cell glioblastoma property_value: alternative:term "IkappaBalpha" xsd:string property_value: alternative:term "IKBA" xsd:string property_value: alternative:term "MAD-3" xsd:string property_value: alternative:term "NFKBI" xsd:string property_value: symbol "NFKBIA" xsd:string [Term] id: Orphanet:159793 name: nucleophosmin (nucleolar phosphoprotein B23, numatrin) xref: ENSEMBL:ENSG00000181163 xref: GENATLAS:NPM1 xref: HGNC:7910 xref: OMIM:164040 xref: REACTOME:P06748 xref: UNIPROTKB/SWISSPROT:P06748 is_a: Orphanet:C010 ! gene relationship: Orphanet:317344 Orphanet:517 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Acute myelomonocytic leukemia relationship: Orphanet:317344 Orphanet:98833 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Acute myeloblastic leukemia without maturation relationship: Orphanet:317344 Orphanet:98834 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Acute myeloblastic leukemia with maturation relationship: Orphanet:317348 Orphanet:520 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute promyelocytic leukemia property_value: alternative:term "B23" xsd:string property_value: alternative:term "NPM" xsd:string property_value: alternative:term "nucleolar phosphoprotein B23" xsd:string property_value: alternative:term "Nucleophosmin/nucleoplasmin family, member 1" xsd:string property_value: alternative:term "Numatrin" xsd:string property_value: symbol "NPM1" xsd:string [Term] id: Orphanet:159799 name: nuclear receptor subfamily 4, group A, member 2 xref: ENSEMBL:ENSG00000153234 xref: GENATLAS:NR4A2 xref: HGNC:7981 xref: IUPHAR:630 xref: OMIM:601828 xref: REACTOME:P43354 xref: UNIPROTKB/SWISSPROT:P43354 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2828 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Young adult-onset Parkinsonism property_value: alternative:term "HZF-3" xsd:string property_value: alternative:term "NOT" xsd:string property_value: alternative:term "NURR1" xsd:string property_value: alternative:term "RNR1" xsd:string property_value: alternative:term "TINUR" xsd:string property_value: symbol "NR4A2" xsd:string [Term] id: Orphanet:1598 name: Monosomy 18p xref: ICD10:Q93.5 xref: OMIM:146390 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:261974 ! Partial deletion of the short arm of chromosome 18 relationship: part_of Orphanet:98642 ! Chromosomal anomaly with cataract property_value: alternative:term "18p- syndrome" xsd:string property_value: alternative:term "De Grouchy syndrome" xsd:string [Term] id: Orphanet:159810 name: phosphorylase kinase, gamma 2 (testis) xref: ENSEMBL:ENSG00000156873 xref: GENATLAS:PHKG2 xref: HGNC:8931 xref: IUPHAR:2147 xref: OMIM:172471 xref: REACTOME:P15735 xref: UNIPROTKB/SWISSPROT:P15735 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:264580 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to liver phosphorylase kinase deficiency property_value: symbol "PHKG2" xsd:string [Term] id: Orphanet:159813 name: pleiomorphic adenoma gene-like 1 xref: ENSEMBL:ENSG00000118495 xref: GENATLAS:PLAGL1 xref: HGNC:9046 xref: OMIM:603044 xref: UNIPROTKB/SWISSPROT:Q9UM63 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:99886 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Transient neonatal diabetes mellitus relationship: Orphanet:317349 Orphanet:96191 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Paternal uniparental disomy of chromosome 6 property_value: alternative:term "LOT1" xsd:string property_value: alternative:term "ZAC" xsd:string property_value: symbol "PLAGL1" xsd:string [Term] id: Orphanet:159821 name: prominin 1 xref: ENSEMBL:ENSG00000007062 xref: GENATLAS:PROM1 xref: HGNC:9454 xref: OMIM:604365 xref: UNIPROTKB/SWISSPROT:O43490 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone rod dystrophy relationship: Orphanet:317343 Orphanet:319640 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinal macular dystrophy type 2 relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa relationship: Orphanet:317343 Orphanet:827 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Stargardt disease property_value: alternative:term "AC133" xsd:string property_value: alternative:term "CD133" xsd:string property_value: alternative:term "CORD12" xsd:string property_value: alternative:term "macular dystrophy, retinal 2" xsd:string property_value: alternative:term "MCDR2" xsd:string property_value: alternative:term "prominin (mouse)-like 1" xsd:string property_value: alternative:term "PROML1" xsd:string property_value: alternative:term "RP41" xsd:string property_value: alternative:term "Stargardt disease 4 (autosomal dominant)" xsd:string property_value: alternative:term "STGD4" xsd:string property_value: symbol "PROM1" xsd:string [Term] id: Orphanet:159889 name: acyl-CoA dehydrogenase, long chain xref: ENSEMBL:ENSG00000115361 xref: GENATLAS:ACADL xref: HGNC:88 xref: OMIM:609576 xref: REACTOME:P28330 xref: UNIPROTKB/SWISSPROT:P28330 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99900 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Long chain acyl-CoA dehydrogenase deficiency property_value: alternative:term "ACAD4" xsd:string property_value: alternative:term "Acyl-Coenzyme A dehydrogenase, long chain" xsd:string property_value: alternative:term "LCAD" xsd:string property_value: symbol "ACADL" xsd:string [Term] id: Orphanet:159893 name: actin, beta xref: ENSEMBL:ENSG00000075624 xref: GENATLAS:ACTB xref: HGNC:132 xref: OMIM:102630 xref: REACTOME:P60709 xref: UNIPROTKB/SWISSPROT:P60709 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2995 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Baraitser-Winter syndrome relationship: Orphanet:317343 Orphanet:79107 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Developmental malformations - deafness - dystonia property_value: symbol "ACTB" xsd:string [Term] id: Orphanet:159895 name: aminoacylase 1 xref: ENSEMBL:ENSG00000243989 xref: GENATLAS:ACY1 xref: HGNC:177 xref: OMIM:104620 xref: UNIPROTKB/SWISSPROT:Q03154 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:137754 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neurological conditions associated with aminoacylase 1 deficiency property_value: symbol "ACY1" xsd:string [Term] id: Orphanet:159897 name: chromosome 10 open reading frame 2 xref: ENSEMBL:ENSG00000107815 xref: GENATLAS:C10orf2 xref: HGNC:1160 xref: OMIM:606075 xref: UNIPROTKB/SWISSPROT:Q96RR1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1186 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile onset spinocerebellar ataxia relationship: Orphanet:317343 Orphanet:254892 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant progressive external ophthalmoplegia relationship: Orphanet:317343 Orphanet:363534 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial DNA depletion syndrome, hepatocerebrorenal form relationship: Orphanet:317343 Orphanet:70595 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sensory ataxic neuropathy - dysarthria - ophthalmoparesis property_value: alternative:term "FLJ21832" xsd:string property_value: alternative:term "infantile onset spinocerebellar ataxia (autosomal recessive)" xsd:string property_value: alternative:term "IOSCA" xsd:string property_value: alternative:term "PEO" xsd:string property_value: alternative:term "PEO1" xsd:string property_value: alternative:term "T7 helicase-related protein with intramitochondrial nucleoid localization" xsd:string property_value: alternative:term "TWINKLE" xsd:string property_value: alternative:term "TWINL" xsd:string property_value: symbol "C10ORF2" xsd:string [Term] id: Orphanet:159904 name: inositol 1,4,5-trisphosphate receptor, type 1 xref: ENSEMBL:ENSG00000150995 xref: GENATLAS:ITPR1 xref: HGNC:6180 xref: OMIM:147265 xref: REACTOME:Q14643 xref: UNIPROTKB/SWISSPROT:Q14643 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:208513 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 29 relationship: Orphanet:317343 Orphanet:98769 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 15/16 property_value: alternative:term "Inositol 1,4,5-triphosphate receptor, type 1" xsd:string property_value: alternative:term "Insp3r1" xsd:string property_value: alternative:term "IP3R1" xsd:string property_value: alternative:term "SCA15" xsd:string property_value: alternative:term "SCA16" xsd:string property_value: alternative:term "spinocerebellar ataxia 15" xsd:string property_value: alternative:term "spinocerebellar ataxia 15 gene" xsd:string property_value: alternative:term "spinocerebellar ataxia 16" xsd:string property_value: alternative:term "spinocerebellar ataxia 16 gene" xsd:string property_value: symbol "ITPR1" xsd:string [Term] id: Orphanet:159910 name: mitogen-activated protein kinase 1 xref: ENSEMBL:ENSG00000100030 xref: GENATLAS:MAPK1 xref: HGNC:6871 xref: IUPHAR:1495 xref: OMIM:176948 xref: REACTOME:P28482 xref: UNIPROTKB/SWISSPROT:P28482 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:261330 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Distal 22q11.2 microdeletion syndrome property_value: alternative:term "ERK" xsd:string property_value: alternative:term "ERK2" xsd:string property_value: alternative:term "MAPK2" xsd:string property_value: alternative:term "p41mapk" xsd:string property_value: alternative:term "PRKM1" xsd:string property_value: alternative:term "PRKM2" xsd:string property_value: symbol "MAPK1" xsd:string [Term] id: Orphanet:159912 name: phosphoserine aminotransferase 1 xref: ENSEMBL:ENSG00000135069 xref: GENATLAS:PSAT1 xref: HGNC:19129 xref: OMIM:610936 xref: REACTOME:Q9Y617 xref: UNIPROTKB/SWISSPROT:Q9Y617 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:284417 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Phosphoserine aminotransferase deficiency property_value: alternative:term "PSA" xsd:string property_value: symbol "PSAT1" xsd:string [Term] id: Orphanet:159915 name: small nucleolar RNA, C/D box 115 cluster xref: GENATLAS:SNORD115@ xref: HGNC:32780 xref: OMIM:609837 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:177910 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Prader-Willi syndrome due to imprinting mutation relationship: Orphanet:317349 Orphanet:177901 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 relationship: Orphanet:317349 Orphanet:177904 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 property_value: alternative:term "HBII-52" xsd:string property_value: symbol "SNORD115@" xsd:string [Term] id: Orphanet:159918 name: activin A receptor, type IIB xref: ENSEMBL:ENSG00000114739 xref: GENATLAS:ACVR2B xref: HGNC:174 xref: IUPHAR:1792 xref: OMIM:602730 xref: REACTOME:Q13705 xref: UNIPROTKB/SWISSPROT:Q13705 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:157769 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Situs ambiguus property_value: alternative:term "ActR-IIB" xsd:string property_value: symbol "ACVR2B" xsd:string [Term] id: Orphanet:159921 name: angiotensin II receptor, type 2 xref: ENSEMBL:ENSG00000180772 xref: GENATLAS:AGTR2 xref: HGNC:338 xref: IUPHAR:35 xref: OMIM:300034 xref: REACTOME:P50052 xref: UNIPROTKB/SWISSPROT:P50052 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit property_value: alternative:term "angiotensin receptor 2" xsd:string property_value: alternative:term "AT2" xsd:string property_value: alternative:term "MRX88" xsd:string property_value: symbol "AGTR2" xsd:string [Term] id: Orphanet:159924 name: discs, large homolog 3 (Drosophila) xref: ENSEMBL:ENSG00000082458 xref: GENATLAS:DLG3 xref: HGNC:2902 xref: OMIM:300189 xref: REACTOME:Q92796 xref: UNIPROTKB/SWISSPROT:Q92796 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit property_value: alternative:term "Discs, large homolog 3 (neuroendocrine-dlg, Drosophila)" xsd:string property_value: alternative:term "KIAA1232" xsd:string property_value: alternative:term "MRX90" xsd:string property_value: alternative:term "NE-Dlg" xsd:string property_value: alternative:term "NEDLG" xsd:string property_value: alternative:term "neuroendocrine-dlg" xsd:string property_value: alternative:term "SAP-102" xsd:string property_value: alternative:term "SAP102" xsd:string property_value: symbol "DLG3" xsd:string [Term] id: Orphanet:159931 name: interleukin 1 receptor accessory protein-like 1 xref: ENSEMBL:ENSG00000169306 xref: GENATLAS:IL1RAPL1 xref: HGNC:5996 xref: OMIM:300206 xref: UNIPROTKB/SWISSPROT:Q9NZN1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit property_value: alternative:term "IL1R8" xsd:string property_value: alternative:term "IL1RAPL" xsd:string property_value: alternative:term "mental retardation, X-linked 10" xsd:string property_value: alternative:term "mental retardation, X-linked 21" xsd:string property_value: alternative:term "mental retardation, X-linked 34" xsd:string property_value: alternative:term "MRX10" xsd:string property_value: alternative:term "MRX21" xsd:string property_value: alternative:term "MRX34" xsd:string property_value: alternative:term "OPHN4" xsd:string property_value: alternative:term "TIGIRR-2" xsd:string property_value: symbol "IL1RAPL1" xsd:string [Term] id: Orphanet:159936 name: oligophrenin 1 xref: ENSEMBL:ENSG00000079482 xref: GENATLAS:OPHN1 xref: HGNC:8148 xref: OMIM:300127 xref: REACTOME:O60890 xref: UNIPROTKB/SWISSPROT:O60890 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:137831 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked intellectual deficit - cerebellar hypoplasia property_value: alternative:term "ARHGAP41" xsd:string property_value: alternative:term "mental retardation, X-linked 60" xsd:string property_value: alternative:term "MRX60" xsd:string property_value: alternative:term "OPN1" xsd:string property_value: symbol "OPHN1" xsd:string [Term] id: Orphanet:159942 name: p21 protein (Cdc42/Rac)-activated kinase 3 xref: ENSEMBL:ENSG00000077264 xref: GENATLAS:PAK3 xref: HGNC:8592 xref: IUPHAR:2135 xref: OMIM:300142 xref: REACTOME:O75914 xref: UNIPROTKB/SWISSPROT:O75914 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit property_value: alternative:term "bPAK" xsd:string property_value: alternative:term "hPAK3" xsd:string property_value: alternative:term "mental retardation, X-linked 47" xsd:string property_value: alternative:term "MRX30" xsd:string property_value: alternative:term "MRX47" xsd:string property_value: alternative:term "p21 (CDKN1A)-activated kinase 3" xsd:string property_value: symbol "PAK3" xsd:string [Term] id: Orphanet:159945 name: tumor suppressor candidate 3 xref: ENSEMBL:ENSG00000104723 xref: GENATLAS:TUSC3 xref: HGNC:30242 xref: OMIM:601385 xref: REACTOME:Q13454 xref: UNIPROTKB/SWISSPROT:Q13454 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88616 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive nonsyndromic intellectual deficit property_value: alternative:term "MGC13453" xsd:string property_value: alternative:term "MRT7" xsd:string property_value: alternative:term "N33" xsd:string property_value: alternative:term "oligosaccharyltransferase 3 homolog A (S. cerevisiae)" xsd:string property_value: alternative:term "OST3A" xsd:string property_value: symbol "TUSC3" xsd:string [Term] id: Orphanet:159950 name: transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) xref: ENSEMBL:ENSG00000137203 xref: GENATLAS:TFAP2A xref: HGNC:11742 xref: OMIM:107580 xref: UNIPROTKB/SWISSPROT:P05549 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1297 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Branchio-oculo-facial syndrome property_value: alternative:term "AP-2" xsd:string property_value: alternative:term "AP2TF" xsd:string property_value: alternative:term "TFAP2" xsd:string property_value: alternative:term "transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)" xsd:string property_value: symbol "TFAP2A" xsd:string [Term] id: Orphanet:159955 name: ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa xref: ENSEMBL:ENSG00000164405 xref: GENATLAS:UQCRQ xref: HGNC:29594 xref: OMIM:612080 xref: REACTOME:O14949 xref: UNIPROTKB/SWISSPROT:O14949 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1460 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated CoQ-cytochrome C reductase deficiency property_value: alternative:term "complex III subunit 8" xsd:string property_value: alternative:term "QCR8" xsd:string property_value: alternative:term "QP-C" xsd:string property_value: alternative:term "ubiquinol-cytochrome c reductase, complex III subunit VII" xsd:string property_value: alternative:term "UQCR7" xsd:string property_value: symbol "UQCRQ" xsd:string [Term] id: Orphanet:159959 name: transmembrane protein 114 xref: ENSEMBL:ENSG00000232258 xref: GENATLAS:TMEM114 xref: HGNC:33227 xref: OMIM:611579 xref: UNIPROTKB/SWISSPROT:B3SHH9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2543 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microphthalmia - cataract property_value: symbol "TMEM114" xsd:string [Term] id: Orphanet:159968 name: hyperparathyroidism 1 xref: HGNC:5190 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99879 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated hyperparathyroidism property_value: alternative:term "FIHP" xsd:string property_value: alternative:term "Hyperparathyroidism 1 gene" xsd:string property_value: symbol "HRPT1" xsd:string [Term] id: Orphanet:159976 name: lens intrinsic membrane protein 2, 19kDa xref: ENSEMBL:ENSG00000105370 xref: GENATLAS:LIM2 xref: HGNC:6610 xref: OMIM:154045 xref: UNIPROTKB/SWISSPROT:P55344 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98984 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pulverulent cataract property_value: alternative:term "lens intrinsic membrane protein 2 (19kD)" xsd:string property_value: alternative:term "MP17" xsd:string property_value: alternative:term "MP19" xsd:string property_value: symbol "LIM2" xsd:string [Term] id: Orphanet:159980 name: lipase, hepatic xref: ENSEMBL:ENSG00000166035 xref: GENATLAS:LIPC xref: HGNC:6619 xref: OMIM:151670 xref: REACTOME:P11150 xref: UNIPROTKB/SWISSPROT:P11150 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:140905 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperlipidemia due to hepatic triglyceride lipase deficiency property_value: alternative:term "HL" xsd:string property_value: alternative:term "HTGL" xsd:string property_value: symbol "LIPC" xsd:string [Term] id: Orphanet:159982 name: insulin-like growth factor binding protein, acid labile subunit xref: ENSEMBL:ENSG00000099769 xref: GENATLAS:IGFALS xref: HGNC:5468 xref: OMIM:601489 xref: REACTOME:P35858 xref: UNIPROTKB/SWISSPROT:P35858 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:140941 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Short stature due to primary acid-labile subunit deficiency property_value: alternative:term "ALS" xsd:string property_value: symbol "IGFALS" xsd:string [Term] id: Orphanet:159984 name: paroxysmal nonkinesigenic dyskinesia xref: ENSEMBL:ENSG00000127838 xref: GENATLAS:PNKD xref: HGNC:9153 xref: OMIM:609023 xref: UNIPROTKB/SWISSPROT:Q8N490 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98810 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Paroxysmal non-kinesigenic dyskinesia property_value: alternative:term "BRP17" xsd:string property_value: alternative:term "DKFZp564N1362" xsd:string property_value: alternative:term "DYT8" xsd:string property_value: alternative:term "FKSG19" xsd:string property_value: alternative:term "FPD1" xsd:string property_value: alternative:term "KIAA1184" xsd:string property_value: alternative:term "KIPP1184" xsd:string property_value: alternative:term "MGC31943" xsd:string property_value: alternative:term "MR-1" xsd:string property_value: alternative:term "myofibrillogenesis regulator 1" xsd:string property_value: alternative:term "paroxysmal nonkinesiogenic dyskinesia" xsd:string property_value: alternative:term "PDC" xsd:string property_value: alternative:term "PKND1" xsd:string property_value: alternative:term "TAHCCP2" xsd:string property_value: symbol "PNKD" xsd:string [Term] id: Orphanet:16 name: Blue cone monochromatism xref: ICD10:H53.5 xref: MESH:C536238 xref: MESH:C538165 xref: OMIM:303700 xref: SNOMED CT:24704003 xref: UMLS:C0339537 xref: UMLS:C2931753 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98658 ! Color-vision disease property_value: alternative:term "Atypical X-linked achromatopsia" xsd:string property_value: alternative:term "Blue cone monochromacy" xsd:string property_value: alternative:term "Color blindness, blue monocone monochromatic type" xsd:string property_value: alternative:term "S cone monochromacy" xsd:string property_value: alternative:term "S cone monochromatism" xsd:string property_value: alternative:term "X-linked incomplete achromatopsia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term)." xsd:string [Term] id: Orphanet:160 name: Castleman disease xref: ICD10:D36.0 xref: MEDDRA:10050251 xref: MESH:C536362 xref: MESH:D005871 xref: SNOMED CT:207036003 xref: SNOMED CT:238809002 xref: UMLS:C0017531 xref: UMLS:C2931179 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102024 ! HHV-8 related disorders property_value: alternative:term "Angiofollicular ganglionic hyperplasia" xsd:string property_value: alternative:term "Angiofollicular lymph hyperplasia" xsd:string [Term] id: Orphanet:1600 name: Monosomy 18q xref: ICD10:Q93.5 xref: OMIM:601808 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations relationship: part_of Orphanet:262146 ! Partial deletion of the long arm of chromosome 18 relationship: part_of Orphanet:98642 ! Chromosomal anomaly with cataract property_value: alternative:term "18q- syndrome" xsd:string property_value: alternative:term "Deletion 18q" xsd:string [Term] id: Orphanet:160001 name: dystonia 13, torsion xref: HGNC:3101 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:98807 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Primary dystonia, DYT13 type property_value: alternative:term "Dystonia 13, torsion gene" xsd:string property_value: symbol "DYT13" xsd:string [Term] id: Orphanet:160003 name: cytochrome P450, family 4, subfamily F, polypeptide 22 xref: ENSEMBL:ENSG00000171954 xref: GENATLAS:CYP4F22 xref: HGNC:26820 xref: OMIM:611495 xref: REACTOME:Q6NT55 xref: UNIPROTKB/SWISSPROT:Q6NT55 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:313 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lamellar ichthyosis property_value: alternative:term "FLJ39501" xsd:string property_value: symbol "CYP4F22" xsd:string [Term] id: Orphanet:160006 name: retina and anterior neural fold homeobox xref: ENSEMBL:ENSG00000134438 xref: GENATLAS:RAX xref: HGNC:18662 xref: OMIM:601881 xref: UNIPROTKB/SWISSPROT:Q9Y2V3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2542 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated anophthalmia - microphthalmia property_value: alternative:term "RX" xsd:string property_value: symbol "RAX" xsd:string [Term] id: Orphanet:160008 name: A kinase (PRKA) anchor protein 9 xref: ENSEMBL:ENSG00000127914 xref: GENATLAS:AKAP9 xref: HGNC:379 xref: OMIM:604001 xref: REACTOME:Q99996 xref: UNIPROTKB/SWISSPROT:Q99996 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101016 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Romano-Ward syndrome property_value: alternative:term "A kinase (PRKA) anchor protein (yotiao) 9" xsd:string property_value: alternative:term "A-kinase anchor protein, 350kDa" xsd:string property_value: alternative:term "A-kinase anchoring protein 450" xsd:string property_value: alternative:term "AKAP120-like protein" xsd:string property_value: alternative:term "AKAP350" xsd:string property_value: alternative:term "AKAP450" xsd:string property_value: alternative:term "AKAP9-BRAF fusion protein" xsd:string property_value: alternative:term "centrosome- and golgi-localized protein" xsd:string property_value: alternative:term "CG-NAP" xsd:string property_value: alternative:term "HYPERION" xsd:string property_value: alternative:term "KIAA0803" xsd:string property_value: alternative:term "kinase N-associated protein" xsd:string property_value: alternative:term "LQT11" xsd:string property_value: alternative:term "MU-RMS-40.16A" xsd:string property_value: alternative:term "PPP1R45" xsd:string property_value: alternative:term "PRKA9" xsd:string property_value: alternative:term "protein kinase A anchoring protein 9" xsd:string property_value: alternative:term "protein phosphatase 1, regulatory subunit 45" xsd:string property_value: alternative:term "YOTIAO" xsd:string property_value: symbol "AKAP9" xsd:string [Term] id: Orphanet:160018 name: sodium channel, voltage-gated, type IV, beta subunit xref: ENSEMBL:ENSG00000177098 xref: GENATLAS:SCN4B xref: HGNC:10592 xref: OMIM:608256 xref: UNIPROTKB/SWISSPROT:Q8IWT1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101016 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Romano-Ward syndrome property_value: alternative:term "LQT10" xsd:string property_value: alternative:term "Sodium channel, voltage-gated, type IV, beta" xsd:string property_value: symbol "SCN4B" xsd:string [Term] id: Orphanet:160020 name: anaplastic lymphoma receptor tyrosine kinase xref: ENSEMBL:ENSG00000171094 xref: GENATLAS:ALK xref: HGNC:427 xref: IUPHAR:1839 xref: OMIM:105590 xref: UNIPROTKB/SWISSPROT:Q9UM73 is_a: Orphanet:C010 ! gene relationship: Orphanet:317344 Orphanet:300895 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! ALK-positive anaplastic large cell lymphoma relationship: Orphanet:317344 Orphanet:635 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Neuroblastoma relationship: Orphanet:317345 Orphanet:635 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Neuroblastoma relationship: Orphanet:317348 Orphanet:178342 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Inflammatory myofibroblastic tumor relationship: Orphanet:317348 Orphanet:364043 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! ALK-positive large B-cell lymphoma property_value: alternative:term "Anaplastic lymphoma kinase (Ki-1)" xsd:string property_value: alternative:term "CD246" xsd:string property_value: symbol "ALK" xsd:string [Term] id: Orphanet:160048 name: aurora kinase C xref: ENSEMBL:ENSG00000105146 xref: GENATLAS:AURKC xref: HGNC:11391 xref: IUPHAR:1938 xref: OMIM:603495 xref: UNIPROTKB/SWISSPROT:Q9UQB9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:137893 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Male infertility associated with large-headed multiflagellar polyploid spermatozoa property_value: alternative:term "ARK3" xsd:string property_value: alternative:term "AurC" xsd:string property_value: alternative:term "Serine/threonine kinase 13 (aurora/IPL1-like)" xsd:string property_value: alternative:term "STK13" xsd:string property_value: alternative:term "STK3" xsd:string property_value: symbol "AURKC" xsd:string [Term] id: Orphanet:160053 name: apolipoprotein C-III xref: ENSEMBL:ENSG00000110245 xref: GENATLAS:APOC3 xref: HGNC:610 xref: OMIM:107720 xref: REACTOME:P02656 xref: UNIPROTKB/SWISSPROT:P02656 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79506 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cholesterol-ester transfer protein deficiency property_value: symbol "APOC3" xsd:string [Term] id: Orphanet:160055 name: beaded filament structural protein 1, filensin xref: ENSEMBL:ENSG00000125864 xref: GENATLAS:BFSP1 xref: HGNC:1040 xref: OMIM:603307 xref: UNIPROTKB/SWISSPROT:Q12934 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:217046 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive childhood-onset cortical cataract property_value: alternative:term "CP115" xsd:string property_value: alternative:term "CP94" xsd:string property_value: alternative:term "Filensin" xsd:string property_value: alternative:term "LIFL-H" xsd:string property_value: symbol "BFSP1" xsd:string [Term] id: Orphanet:160064 name: complement component 3 xref: ENSEMBL:ENSG00000125730 xref: GENATLAS:C3 xref: HGNC:1318 xref: OMIM:120700 xref: REACTOME:P01024 xref: UNIPROTKB/SWISSPROT:P01024 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280133 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Complement component 3 deficiency relationship: Orphanet:317345 Orphanet:93575 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Atypical hemolytic uremic syndrome with C3 anomaly property_value: alternative:term "ARMD9" xsd:string property_value: alternative:term "C3a" xsd:string property_value: alternative:term "C3a anaphylatoxin" xsd:string property_value: alternative:term "C3b" xsd:string property_value: alternative:term "complement component C3a" xsd:string property_value: alternative:term "complement component C3b" xsd:string property_value: alternative:term "CPAMD1" xsd:string property_value: alternative:term "prepro-C3" xsd:string property_value: symbol "C3" xsd:string [Term] id: Orphanet:160067 name: complement component 4A (Rodgers blood group) xref: ENSEMBL:ENSG00000244731 xref: GENATLAS:C4A xref: HGNC:1323 xref: OMIM:120810 xref: REACTOME:P0C0L4 xref: UNIPROTKB/SWISSPROT:P0C0L4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169147 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency due to an early component of complement deficiency relationship: Orphanet:317345 Orphanet:117 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Behçet disease property_value: alternative:term "C4" xsd:string property_value: alternative:term "C4A2" xsd:string property_value: alternative:term "C4A3" xsd:string property_value: alternative:term "C4A4" xsd:string property_value: alternative:term "C4A5" xsd:string property_value: alternative:term "C4A6" xsd:string property_value: alternative:term "C4B" xsd:string property_value: alternative:term "C4S" xsd:string property_value: alternative:term "CO4" xsd:string property_value: alternative:term "complement component 4A" xsd:string property_value: alternative:term "CPAMD2" xsd:string property_value: alternative:term "RG" xsd:string property_value: symbol "C4A" xsd:string [Term] id: Orphanet:160082 name: complement component 4B (Chido blood group) xref: ENSEMBL:ENSG00000224389 xref: GENATLAS:C4B xref: HGNC:1324 xref: OMIM:120820 xref: REACTOME:P0C0L5 xref: UNIPROTKB/SWISSPROT:P0C0L5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169147 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency due to an early component of complement deficiency property_value: alternative:term "C4B1" xsd:string property_value: alternative:term "C4B3" xsd:string property_value: alternative:term "C4F" xsd:string property_value: alternative:term "CH" xsd:string property_value: alternative:term "CO4" xsd:string property_value: alternative:term "complement component 4B" xsd:string property_value: alternative:term "Complement component 4B (Childo blood group)" xsd:string property_value: alternative:term "CPAMD3" xsd:string property_value: symbol "C4B" xsd:string [Term] id: Orphanet:160093 name: complement component 5 xref: ENSEMBL:ENSG00000106804 xref: GENATLAS:C5 xref: HGNC:1331 xref: OMIM:120900 xref: REACTOME:P01031 xref: UNIPROTKB/SWISSPROT:P01031 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169150 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency due to a late component of complements deficiency property_value: alternative:term "C5a" xsd:string property_value: alternative:term "C5a anaphylatoxin" xsd:string property_value: alternative:term "C5b" xsd:string property_value: alternative:term "CPAMD4" xsd:string property_value: alternative:term "prepro-C5" xsd:string property_value: symbol "C5" xsd:string [Term] id: Orphanet:160107 name: complement component 6 xref: ENSEMBL:ENSG00000039537 xref: GENATLAS:C6 xref: HGNC:1339 xref: OMIM:217050 xref: REACTOME:P13671 xref: UNIPROTKB/SWISSPROT:P13671 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169150 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency due to a late component of complements deficiency property_value: symbol "C6" xsd:string [Term] id: Orphanet:160112 name: complement component 7 xref: ENSEMBL:ENSG00000112936 xref: GENATLAS:C7 xref: HGNC:1346 xref: OMIM:217070 xref: REACTOME:P10643 xref: UNIPROTKB/SWISSPROT:P10643 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169150 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency due to a late component of complements deficiency property_value: symbol "C7" xsd:string [Term] id: Orphanet:160117 name: complement component 8, alpha polypeptide xref: ENSEMBL:ENSG00000157131 xref: GENATLAS:C8A xref: HGNC:1352 xref: OMIM:120950 xref: REACTOME:P07357 xref: UNIPROTKB/SWISSPROT:P07357 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169150 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency due to a late component of complements deficiency property_value: symbol "C8A" xsd:string [Term] id: Orphanet:160119 name: complement component 8, beta polypeptide xref: ENSEMBL:ENSG00000021852 xref: GENATLAS:C8B xref: HGNC:1353 xref: OMIM:120960 xref: REACTOME:P07358 xref: UNIPROTKB/SWISSPROT:P07358 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169150 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency due to a late component of complements deficiency property_value: symbol "C8B" xsd:string [Term] id: Orphanet:160121 name: complement component 8, gamma polypeptide xref: ENSEMBL:ENSG00000176919 xref: GENATLAS:C8G xref: HGNC:1354 xref: OMIM:120930 xref: REACTOME:P07360 xref: UNIPROTKB/SWISSPROT:P07360 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169150 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency due to a late component of complements deficiency property_value: symbol "C8G" xsd:string [Term] id: Orphanet:160126 name: complement component 9 xref: ENSEMBL:ENSG00000113600 xref: GENATLAS:C9 xref: HGNC:1358 xref: OMIM:120940 xref: REACTOME:P02748 xref: UNIPROTKB/SWISSPROT:P02748 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169150 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency due to a late component of complements deficiency property_value: symbol "C9" xsd:string [Term] id: Orphanet:160128 name: calcium channel, voltage-dependent, alpha 2/delta subunit 4 xref: ENSEMBL:ENSG00000151062 xref: GENATLAS:CACNA2D4 xref: HGNC:20202 xref: OMIM:608171 xref: UNIPROTKB/SWISSPROT:Q7Z3S7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone rod dystrophy property_value: symbol "CACNA2D4" xsd:string [Term] id: Orphanet:160142 name: complement component (3d/Epstein Barr virus) receptor 2 xref: ENSEMBL:ENSG00000117322 xref: GENATLAS:CR2 xref: HGNC:2336 xref: OMIM:120650 xref: UNIPROTKB/SWISSPROT:P20023 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1572 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Common variable immunodeficiency property_value: alternative:term "CD21" xsd:string property_value: symbol "CR2" xsd:string [Term] id: Orphanet:160148 name: Cap polyposis xref: ICD10:D12.6 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:104010 ! Intestinal polyposis syndrome property_value: alternative:term "Eroded polypoid hyperplasia" xsd:string property_value: alternative:term "Inflammatory myoglandular polyps" xsd:string property_value: alternative:term "Polypoid prolapsing folds" xsd:string [Term] id: Orphanet:160236 name: v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 xref: ENSEMBL:ENSG00000065361 xref: GENATLAS:ERBB3 xref: HGNC:3431 xref: IUPHAR:1798 xref: OMIM:190151 xref: REACTOME:P21860 xref: UNIPROTKB/SWISSPROT:P21860 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:137776 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lethal congenital contracture syndrome type 2 property_value: alternative:term "HER3" xsd:string property_value: alternative:term "LCCS2" xsd:string property_value: alternative:term "lethal congenital contracture syndrome 2" xsd:string property_value: alternative:term "v-erb-b2 erythroblastic leukemia viral oncogene homolog 3" xsd:string property_value: symbol "ERBB3" xsd:string [Term] id: Orphanet:160240 name: espin xref: ENSEMBL:ENSG00000187017 xref: GENATLAS:ESPN xref: HGNC:13281 xref: OMIM:606351 xref: UNIPROTKB/SWISSPROT:B1AK53 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "Deafness, autosomal recessive 36" xsd:string property_value: alternative:term "DFNB36" xsd:string property_value: symbol "ESPN" xsd:string [Term] id: Orphanet:160244 name: estrogen-related receptor beta xref: ENSEMBL:ENSG00000119715 xref: GENATLAS:ESRRB xref: HGNC:3473 xref: IUPHAR:623 xref: OMIM:602167 xref: REACTOME:O95718 xref: UNIPROTKB/SWISSPROT:O95718 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "Deafness, autosomal recessive 35" xsd:string property_value: alternative:term "DFNB35" xsd:string property_value: alternative:term "ERR2" xsd:string property_value: alternative:term "ERRb" xsd:string property_value: alternative:term "ERRbeta" xsd:string property_value: alternative:term "ESRL2" xsd:string property_value: alternative:term "NR3B2" xsd:string property_value: symbol "ESRRB" xsd:string [Term] id: Orphanet:160253 name: MDS1 and EVI1 complex locus xref: ENSEMBL:ENSG00000085276 xref: GENATLAS:MECOM xref: HGNC:3498 xref: OMIM:165215 xref: UNIPROTKB/SWISSPROT:Q03112 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:52688 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myelodysplastic syndromes property_value: alternative:term "ecotropic viral integration site 1" xsd:string property_value: alternative:term "EVI1" xsd:string property_value: alternative:term "MDS1" xsd:string property_value: alternative:term "MDS1-EVI1" xsd:string property_value: alternative:term "myelodysplasia syndrome 1" xsd:string property_value: alternative:term "PRDM3" xsd:string property_value: symbol "MECOM" xsd:string [Term] id: Orphanet:160257 name: GLE1 RNA export mediator xref: ENSEMBL:ENSG00000119392 xref: GENATLAS:GLE1 xref: HGNC:4315 xref: OMIM:603371 xref: UNIPROTKB/SWISSPROT:Q53GS7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1486 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lethal congenital contracture syndrome type 1 relationship: Orphanet:317343 Orphanet:53696 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lethal arthrogryposis - anterior horn cell disease property_value: alternative:term "GLE1 (yeast homolog)-like, RNA export mediator" xsd:string property_value: alternative:term "GLE1 RNA export mediator (yeast)" xsd:string property_value: alternative:term "GLE1 RNA export mediator homolog" xsd:string property_value: alternative:term "GLE1 RNA export mediator homolog (yeast)" xsd:string property_value: alternative:term "GLE1 RNA export mediator-like (yeast)" xsd:string property_value: alternative:term "GLE1L" xsd:string property_value: alternative:term "hGLE1" xsd:string property_value: alternative:term "LCCS1" xsd:string property_value: alternative:term "lethal congenital contracture syndrome 1" xsd:string property_value: alternative:term "lethal congenital contracture syndrome 1 gene" xsd:string property_value: symbol "GLE1" xsd:string [Term] id: Orphanet:160265 name: interleukin 2 receptor, alpha xref: ENSEMBL:ENSG00000134460 xref: GENATLAS:IL2RA xref: HGNC:6008 xref: OMIM:147730 xref: REACTOME:P01589 xref: UNIPROTKB/SWISSPROT:P01589 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169100 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency due to CD25 deficiency relationship: Orphanet:317345 Orphanet:85408 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Juvenile rheumatoid factor-negative polyarthritis relationship: Orphanet:317345 Orphanet:85410 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Oligoarticular juvenile arthritis property_value: alternative:term "CD25" xsd:string property_value: alternative:term "IL2R" xsd:string property_value: symbol "IL2RA" xsd:string [Term] id: Orphanet:160278 name: intraflagellar transport 80 homolog (Chlamydomonas) xref: ENSEMBL:ENSG00000068885 xref: GENATLAS:IFT80 xref: HGNC:29262 xref: OMIM:611177 xref: UNIPROTKB/SWISSPROT:Q9P2H3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:474 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Jeune syndrome relationship: Orphanet:317343 Orphanet:93271 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Short rib-polydactyly syndrome, Verma-Naumoff type property_value: alternative:term "Intraflagellar transport 80 homolog" xsd:string property_value: alternative:term "KIAA1374" xsd:string property_value: alternative:term "WD repeat domain 56" xsd:string property_value: alternative:term "WDR56" xsd:string property_value: symbol "IFT80" xsd:string [Term] id: Orphanet:160283 name: glycogen synthase 1 (muscle) xref: ENSEMBL:ENSG00000104812 xref: GENATLAS:GYS1 xref: HGNC:4706 xref: OMIM:138570 xref: REACTOME:P13807 xref: UNIPROTKB/SWISSPROT:P13807 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:137625 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to muscle and heart glycogen synthase deficiency property_value: alternative:term "GSY" xsd:string property_value: alternative:term "GYS" xsd:string property_value: symbol "GYS1" xsd:string [Term] id: Orphanet:160288 name: MARVEL domain containing 2 xref: ENSEMBL:ENSG00000152939 xref: GENATLAS:MARVELD2 xref: HGNC:26401 xref: OMIM:610572 xref: UNIPROTKB/SWISSPROT:Q8N4S9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "Deafness, autosomal recessive 49" xsd:string property_value: alternative:term "DFNB49" xsd:string property_value: alternative:term "FLJ30532" xsd:string property_value: alternative:term "MARVEL (membrane-associating) domain containing 2" xsd:string property_value: alternative:term "MRVLDC2" xsd:string property_value: alternative:term "TRIC" xsd:string property_value: alternative:term "Tricellulin" xsd:string property_value: symbol "MARVELD2" xsd:string [Term] id: Orphanet:160296 name: KN motif and ankyrin repeat domains 1 xref: ENSEMBL:ENSG00000107104 xref: GENATLAS:KANK1 xref: HGNC:19309 xref: OMIM:607704 xref: UNIPROTKB/SWISSPROT:Q14678 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:210141 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Inherited congenital spastic tetraplegia relationship: Orphanet:317343 Orphanet:91498 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial congenital palsy of trochlear nerve property_value: alternative:term "ANKRD15" xsd:string property_value: alternative:term "Ankyrin repeat domain 15" xsd:string property_value: alternative:term "KANK" xsd:string property_value: alternative:term "KIAA0172" xsd:string property_value: symbol "KANK1" xsd:string [Term] id: Orphanet:160303 name: mitochondrially encoded tRNA isoleucine xref: ENSEMBL:ENSG00000210100 xref: GENATLAS:MT-TI xref: HGNC:7488 xref: OMIM:590045 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:255225 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited mitochondrial hypertrophic cardiomyopathy property_value: alternative:term "MTTI" xsd:string property_value: alternative:term "tRNA isoleucine" xsd:string property_value: alternative:term "trnI" xsd:string property_value: alternative:term "trnl" xsd:string property_value: symbol "MT-TI" xsd:string [Term] id: Orphanet:160307 name: mitochondrially encoded tRNA tryptophan xref: ENSEMBL:ENSG00000210117 xref: GENATLAS:MT-TW xref: HGNC:7501 xref: OMIM:590095 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:255210 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited Leigh syndrome relationship: Orphanet:317343 Orphanet:550 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MELAS syndrome property_value: alternative:term "MTTW" xsd:string property_value: alternative:term "tRNA tryptophan" xsd:string property_value: alternative:term "trnW" xsd:string property_value: symbol "MT-TW" xsd:string [Term] id: Orphanet:160311 name: muscle, skeletal, receptor tyrosine kinase xref: ENSEMBL:ENSG00000030304 xref: GENATLAS:MUSK xref: HGNC:7525 xref: IUPHAR:1847 xref: OMIM:601296 xref: REACTOME:O15146 xref: UNIPROTKB/SWISSPROT:O15146 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98913 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Postsynaptic congenital myasthenic syndromes property_value: symbol "MUSK" xsd:string [Term] id: Orphanet:160313 name: myosin IIIA xref: ENSEMBL:ENSG00000095777 xref: GENATLAS:MYO3A xref: HGNC:7601 xref: IUPHAR:2112 xref: OMIM:606808 xref: UNIPROTKB/SWISSPROT:Q8NEV4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "Deafness, autosomal recessive 30" xsd:string property_value: alternative:term "DFNB30" xsd:string property_value: symbol "MYO3A" xsd:string [Term] id: Orphanet:160320 name: phosphodiesterase 6H, cGMP-specific, cone, gamma xref: ENSEMBL:ENSG00000139053 xref: GENATLAS:PDE6H xref: HGNC:8790 xref: OMIM:601190 xref: UNIPROTKB/SWISSPROT:Q13956 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:49382 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Achromatopsia property_value: symbol "PDE6H" xsd:string [Term] id: Orphanet:160322 name: phosphatidylinositol-4-phosphate 5-kinase, type I, gamma xref: ENSEMBL:ENSG00000186111 xref: GENATLAS:PIP5K1C xref: HGNC:8996 xref: IUPHAR:2165 xref: OMIM:606102 xref: REACTOME:O60331 xref: UNIPROTKB/SWISSPROT:O60331 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:137783 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lethal congenital contracture syndrome type 3 property_value: alternative:term "KIAA0589" xsd:string property_value: alternative:term "LCCS3" xsd:string property_value: alternative:term "PIP5Kgamma" xsd:string property_value: symbol "PIP5K1C" xsd:string [Term] id: Orphanet:160327 name: PITPNM family member 3 xref: ENSEMBL:ENSG00000091622 xref: GENATLAS:PITPNM3 xref: HGNC:21043 xref: OMIM:608921 xref: UNIPROTKB/SWISSPROT:Q9BZ71 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone rod dystrophy property_value: alternative:term "ACKR6" xsd:string property_value: alternative:term "atypical chemokine receptor 6" xsd:string property_value: alternative:term "cone rod dystrophy 5" xsd:string property_value: alternative:term "CORD5" xsd:string property_value: alternative:term "NIR1" xsd:string property_value: alternative:term "RDGBA3" xsd:string property_value: symbol "PITPNM3" xsd:string [Term] id: Orphanet:160331 name: phospholamban xref: ENSEMBL:ENSG00000198523 xref: GENATLAS:PLN xref: HGNC:9080 xref: OMIM:172405 xref: UNIPROTKB/SWISSPROT:P26678 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy property_value: alternative:term "CMD1P" xsd:string property_value: alternative:term "PLB" xsd:string property_value: symbol "PLN" xsd:string [Term] id: Orphanet:160333 name: pyridoxamine 5'-phosphate oxidase xref: ENSEMBL:ENSG00000108439 xref: GENATLAS:PNPO xref: HGNC:30260 xref: OMIM:603287 xref: REACTOME:Q9NVS9 xref: UNIPROTKB/SWISSPROT:Q9NVS9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79096 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pyridoxal phosphate-responsive seizures property_value: alternative:term "PDXPO" xsd:string property_value: alternative:term "Pyridoxine 5'-phosphate oxidase" xsd:string property_value: symbol "PNPO" xsd:string [Term] id: Orphanet:160337 name: solute carrier family 26 (anion exchanger), member 5 xref: ENSEMBL:ENSG00000170615 xref: GENATLAS:SLC26A5 xref: HGNC:9359 xref: OMIM:604943 xref: UNIPROTKB/SWISSPROT:P58743 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "deafness, neurosensory, autosomal recessive, 61" xsd:string property_value: alternative:term "DFNB61" xsd:string property_value: alternative:term "PRES" xsd:string property_value: alternative:term "prestin (motor protein)" xsd:string property_value: alternative:term "Solute carrier family 26, member 5 (prestin)" xsd:string property_value: symbol "SLC26A5" xsd:string [Term] id: Orphanet:1606 name: 1p36 deletion syndrome xref: ICD10:Q93.5 xref: OMIM:607872 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:166469 ! Chromosomal anomaly with epilepsy as a major feature relationship: part_of Orphanet:217619 ! Syndrome associated with dilated cardiomyopathy relationship: part_of Orphanet:261857 ! Partial deletion of the short arm of chromosome 1 property_value: alternative:term "Del(1)(p36)" xsd:string property_value: alternative:term "Deletion 1p36" xsd:string property_value: alternative:term "Deletion 1pter" xsd:string property_value: alternative:term "Monosomy 1p36" xsd:string property_value: alternative:term "Monosomy 1pter" xsd:string property_value: alternative:term "Subtelomeric 1p36 deletion" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency." xsd:string [Term] id: Orphanet:1617 name: 2q24 microdeletion syndrome xref: ICD10:Q93.5 xref: MESH:C538316 xref: UMLS:C2931816 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262010 ! Partial deletion of the long arm of chromosome 2 relationship: part_of Orphanet:98642 ! Chromosomal anomaly with cataract property_value: alternative:term "Del(2)(q24)" xsd:string property_value: alternative:term "Monosomy 2q24" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "2q24 microdeletion syndrome is a chromosomal anomaly giving raise to a clinically recognizable syndrome including eye anomalies (coloboma, cataract and microphthalmia), anomalies of hands and feet (flexion deformities) and congenital heart defects." xsd:string [Term] id: Orphanet:162 name: Cataract-glaucoma xref: ICD10:Q12.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: part_of Orphanet:98558 ! Rare eye disease due to a differentiation anomaly relationship: part_of Orphanet:98641 ! Syndromic cataract [Term] id: Orphanet:1620 name: Distal monosomy 3p xref: ICD10:Q93.5 xref: OMIM:613792 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:261875 ! Partial deletion of the short arm of chromosome 3 relationship: part_of Orphanet:293642 ! Blepharophimosis-intellectual deficit syndrome property_value: alternative:term "Distal 3p deletion" xsd:string property_value: alternative:term "Monosomy 3pter" xsd:string property_value: alternative:term "Telomeric monosomy 3p" xsd:string [Term] id: Orphanet:1621 name: 3q13 microdeletion syndrome xref: ICD10:Q93.5 xref: MESH:C536808 xref: OMIM:615433 xref: UMLS:C2931338 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262019 ! Partial deletion of the long arm of chromosome 3 property_value: alternative:term "Del(3)(q13)" xsd:string property_value: alternative:term "Monosomy 3q13" xsd:string [Term] id: Orphanet:162516 name: Isolated congenital nasal pyriform aperture stenosis xref: ICD10:Q30.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:156246 ! Nose and cavum anomaly property_value: alternative:term "Isolated apertura pyriformis stenosis" xsd:string property_value: alternative:term "Isolated nasal pyriform aperture hypoplasia" xsd:string [Term] id: Orphanet:162521 name: Congenital nasal pyriform aperture stenosis with holoprosencephaly xref: ICD10:Q30.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:156246 ! Nose and cavum anomaly property_value: alternative:term "Apertura pyriformis with holoprosencephaly" xsd:string [Term] id: Orphanet:162526 name: Isolated congenital auditory ossicle malformation xref: ICD10:Q16.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:164004 ! Middle ear anomaly property_value: alternative:term "Congenital auditory ossicle malformation without external ear abnormality" xsd:string [Term] id: Orphanet:1627 name: Distal monosomy 5q xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262038 ! Partial deletion of the long arm of chromosome 5 property_value: alternative:term "Distal 5q deletion" xsd:string property_value: alternative:term "Monosomy 5qter" xsd:string property_value: alternative:term "Telomeric 5q deletion" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Deletion 5q35 is an extremely rare congenital malformation syndrome characterized by varying degrees of facial dysmorphism and developmental delay, associated with contractures of the fingers and cardiac defects." xsd:string [Term] id: Orphanet:163 name: Hereditary hyperferritinemia with congenital cataracts xref: ICD10:H26.0 xref: MESH:C538137 xref: OMIM:600886 xref: UMLS:C1833213 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98641 ! Syndromic cataract relationship: part_of Orphanet:98712 ! Metabolic disease with cataract property_value: alternative:term "Bonneau-Beaumont syndrome" xsd:string property_value: alternative:term "Hereditary hyperferritinemia-cataract syndrome" xsd:string property_value: alternative:term "HHCS" xsd:string [Term] id: Orphanet:163209 name: Nonsyndromic cerebral malformation due to abnormal neuronal migration xref: ICD10:Q04.8 is_a: Orphanet:166478 ! Cerebral malformation with epilepsy is_a: Orphanet:199633 ! Cerebral malformation is_a: Orphanet:269553 ! Genetic cerebral malformation property_value: alternative:term "Brain malformation due to abnormal neuronal migration" xsd:string [Term] id: Orphanet:163525 name: Subacute cutaneous lupus erythematosus xref: ICD10:L93.1 xref: MEDDRA:10057903 xref: SNOMED CT:239891002 xref: UMLS:C0024140 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:535 ! Cutaneous lupus erythematosus [Term] id: Orphanet:163528 name: Acute cutaneous lupus erythematosus xref: ICD10:L93.2 xref: MEDDRA:10057928 xref: UMLS:C1142226 is_a: Orphanet:535 ! Cutaneous lupus erythematosus [Term] id: Orphanet:163531 name: Chronic cutaneous lupus erythematosus xref: ICD10:L93.0 xref: ICD10:L93.2 xref: MEDDRA:10057929 is_a: Orphanet:535 ! Cutaneous lupus erythematosus [Term] id: Orphanet:163582 name: Rare bacterial infectious disease is_a: Orphanet:68416 ! Rare infectious disease [Term] id: Orphanet:163585 name: Rare viral disease is_a: Orphanet:68416 ! Rare infectious disease [Term] id: Orphanet:163588 name: Rare parasitic disease is_a: Orphanet:68416 ! Rare infectious disease [Term] id: Orphanet:163591 name: Rare mycosis is_a: Orphanet:68416 ! Rare infectious disease [Term] id: Orphanet:163596 name: Hb Bart's hydrops fetalis xref: ICD10:D56.0 xref: OMIM:236750 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:846 ! Alpha-thalassemia property_value: alternative:term "Alpha-thalassemia hydrops fetalis" xsd:string property_value: alternative:term "Alpha-thalassemia major" xsd:string property_value: alternative:term "Hemoglobin Bart's hydrops fetalis" xsd:string property_value: alternative:term "Homozygous alpha0-thalassemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia." xsd:string [Term] id: Orphanet:1636 name: Distal monosomy 7q36 xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262056 ! Partial deletion of the long arm of chromosome 7 property_value: alternative:term "Distal deletion 7q36" xsd:string property_value: alternative:term "Monosomy 7qter" xsd:string property_value: alternative:term "Telomeric deletion 7q36" xsd:string [Term] id: Orphanet:163631 name: Bile acid synthesis defect with cholestasis and malabsorption xref: ICD10:K76.8 is_a: Orphanet:284385 ! Familial intrahepatic cholestasis is_a: Orphanet:79168 ! Disorder of bile acid synthesis [Term] id: Orphanet:163634 name: Maffucci syndrome xref: ICD10:Q78.4 xref: OMIM:614569 xref: SNOMED CT:46041001 xref: UMLS:C0024454 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:183478 ! Genetic skin vascular disease relationship: part_of Orphanet:183527 ! Genetic bone tumor relationship: part_of Orphanet:211277 ! Complex - combined vascular malformation relationship: part_of Orphanet:68411 ! Rare bone tumor relationship: part_of Orphanet:79379 ! Skin vascular disease relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components relationship: part_of Orphanet:93460 ! Overgrowth syndrome relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis [Term] id: Orphanet:163637 name: Rare disorder related with pregnancy, childbirth and puerperium is_a: Orphanet:96344 ! Rare gynecologic or obstetric disease [Term] id: Orphanet:163649 name: Spondyloepiphyseal dysplasia, Nishimura type xref: ICD10:Q77.7 xref: OMIM:602611 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia property_value: alternative:term "Spondyloepiphyseal dysplasia - craniosynostosis - cleft palate - cataract - intellectual deficit" xsd:string [Term] id: Orphanet:163654 name: Spondyloepiphyseal dysplasia, Cantu type xref: ICD10:Q77.7 xref: OMIM:611717 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia property_value: alternative:term "Fantasy Island syndrome" xsd:string property_value: alternative:term "SED-BDS" xsd:string property_value: alternative:term "Spondyloepiphyseal dysplasia - brachydactyly - speech disorder" xsd:string property_value: alternative:term "Tattoo dysplasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)." xsd:string [Term] id: Orphanet:163662 name: Spondyloepiphyseal dysplasia, Reardon type xref: ICD10:Q77.7 xref: OMIM:600561 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process." xsd:string [Term] id: Orphanet:163665 name: Spondyloepiphyseal dysplasia tarda, Kohn type xref: ICD10:Q77.7 xref: OMIM:271620 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia [Term] id: Orphanet:163668 name: Spondyloepiphyseal dysplasia, MacDermot type xref: ICD10:Q77.7 xref: OMIM:184000 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Spondyloepiphyseal dysplasia - myopia - sensorineural deafness" xsd:string [Term] id: Orphanet:163673 name: Spondyloepiphyseal dysplasia, Byers type is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_93284 with label: Spondyloepiphyseal dysplasia tarda" xsd:string [Term] id: Orphanet:163681 name: Cortical dysplasia - focal epilepsy syndrome xref: ICD10:Q04.8 xref: OMIM:610042 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:166463 ! Epileptic syndrome [Term] id: Orphanet:163684 name: Leukoencephalopathy - dystonia - motor neuropathy xref: ICD10:E75.2 xref: OMIM:613724 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68356 ! Leukodystrophy relationship: part_of Orphanet:79188 ! Peroxisomal beta-oxidation disorder [Term] id: Orphanet:163690 name: Hypotonia - cystinuria syndrome xref: ICD10:E72.0 xref: OMIM:606407 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:238517 ! Hypotonia - cystinuria type 1 property_value: alternative:term "HCS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism." xsd:string [Term] id: Orphanet:163693 name: 2p21 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:606407 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:238517 ! Hypotonia - cystinuria type 1 property_value: alternative:term "2p21 deletion" xsd:string property_value: alternative:term "Del(2)(p21)" xsd:string property_value: alternative:term "Monosomy 2p21" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia." xsd:string [Term] id: Orphanet:163696 name: Action myoclonus - renal failure syndrome xref: OMIM:254900 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102373 ! Primary glomerular disease relationship: part_of Orphanet:166463 ! Epileptic syndrome [Term] id: Orphanet:163699 name: Alveolar soft-part sarcoma xref: MEDDRA:10001882 xref: MESH:D018234 xref: OMIM:606243 xref: SNOMED CT:404056007 xref: SNOMED CT:88195001 xref: UMLS:C0206657 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:3394 ! Soft tissue sarcoma [Term] id: Orphanet:163703 name: Febrile infection-related epilepsy syndrome is_a: Orphanet:363567 ! Acute encephalopathy with inflammation-mediated status epilepticus relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98259 ! Childhood-onset epilepsy syndrome property_value: alternative:term "Acute encephalitis with refractory repetitive partial seizures" xsd:string property_value: alternative:term "Acute non-herpetic encephalitis with severe refractory status epilepticus" xsd:string property_value: alternative:term "AERRPS" xsd:string property_value: alternative:term "DESC syndrome" xsd:string property_value: alternative:term "Devastating epileptic encephalopathy in school-aged children" xsd:string property_value: alternative:term "Fever-induced refractory epileptic encephalopathy in school-aged children" xsd:string property_value: alternative:term "FIRES" xsd:string property_value: alternative:term "Idiopathic catastrophic epileptic encephalopathy" xsd:string property_value: alternative:term "Severe refractory status epilepticus owing to presumed encephalitis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness." xsd:string [Term] id: Orphanet:163708 name: Cryptogenic late-onset epileptic spasms is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:98259 ! Childhood-onset epilepsy syndrome property_value: alternative:term "Late-onset infantile spasms" xsd:string [Term] id: Orphanet:163717 name: Benign familial mesial temporal lobe epilepsy xref: OMIM:611630 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:309 ! Familial partial epilepsy [Term] id: Orphanet:163721 name: Rolandic epilepsy - speech dyspraxia xref: OMIM:245570 xref: OMIM:300643 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:98259 ! Childhood-onset epilepsy syndrome relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:163727 name: Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp xref: MESH:C535499 xref: OMIM:608105 xref: UMLS:C1842531 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98259 ! Childhood-onset epilepsy syndrome [Term] id: Orphanet:163746 name: Neurologic Waardenburg-Shah syndrome xref: ICD10:E75.2 xref: OMIM:609136 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:104009 ! Congenital intestinal motility disorder relationship: part_of Orphanet:108969 ! Syndromic intestinal malformation relationship: part_of Orphanet:183469 ! Genetic hypopigmentation of the skin relationship: part_of Orphanet:68356 ! Leukodystrophy relationship: part_of Orphanet:79376 ! Hypopigmentation of the skin relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98497 ! Genetic peripheral neuropathy relationship: part_of Orphanet:98708 ! Pigmentation disorder with eye involvement, excluding albinism property_value: alternative:term "PCWH" xsd:string property_value: alternative:term "Peripheral demyelinating neuropathy - central dysmyelinating leukodystrophy - Waardenburg syndrome - Hirschsprung disease" xsd:string property_value: alternative:term "WS4 plus" xsd:string [Term] id: Orphanet:163892 name: Limbic encephalitis xref: MESH:D020363 xref: SNOMED CT:230192003 xref: UMLS:C0338430 is_a: Orphanet:166484 ! Inflammatory and autoimmune disease with epilepsy is_a: Orphanet:97275 ! Encephalitis [Term] id: Orphanet:163895 name: Paraneoplastic limbic encephalitis xref: ICD10:G13.1 xref: SNOMED CT:445014002 is_a: Orphanet:163892 ! Limbic encephalitis is_a: Orphanet:36388 ! Paraneoplastic neurologic syndrome [Term] id: Orphanet:163898 name: Classic paraneoplastic limbic encephalitis xref: ICD10:G13.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163895 ! Paraneoplastic limbic encephalitis property_value: alternative:term "Classic paraneoplastic limbic encephalitis, with or without intracellular antigens" xsd:string [Term] id: Orphanet:163903 name: Limbic encephalitis associated with antibodies to cell membrane antigens xref: ICD10:G13.1 is_a: Orphanet:163895 ! Paraneoplastic limbic encephalitis [Term] id: Orphanet:163908 name: Limbic encephalitis with LGI1 antibodies is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163903 ! Limbic encephalitis associated with antibodies to cell membrane antigens relationship: part_of Orphanet:163918 ! Non-paraneoplastic limbic encephalitis relationship: part_of Orphanet:98253 ! Postinfectious encephalitis property_value: alternative:term "Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies" xsd:string [Term] id: Orphanet:163914 name: Limbic encephalitis with nCMAgs antibodies xref: ICD10:G13.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163903 ! Limbic encephalitis associated with antibodies to cell membrane antigens property_value: alternative:term "Limbic encephalitis with novel Cell Membrane Antigens antibodies" xsd:string [Term] id: Orphanet:163918 name: Non-paraneoplastic limbic encephalitis is_a: Orphanet:163892 ! Limbic encephalitis [Term] id: Orphanet:163921 name: Posttransplant acute limbic encephalitis is_a: Orphanet:377793 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! particular clinical situation in a disease or syndrome relationship: part_of Orphanet:163918 ! Non-paraneoplastic limbic encephalitis [Term] id: Orphanet:163924 name: Non-herpetic acute limbic encephalitis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163918 ! Non-paraneoplastic limbic encephalitis [Term] id: Orphanet:163927 name: Pustulosis palmaris et plantaris xref: ICD10:L40.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:79359 ! Other epidermis disorder relationship: part_of Orphanet:79385 ! Unclassified genetic skin disease property_value: alternative:term "Localized pustular psoriasis" xsd:string property_value: alternative:term "LPP" xsd:string property_value: alternative:term "Palmoplantar pustulosis" xsd:string property_value: alternative:term "PPP" xsd:string [Term] id: Orphanet:163931 name: Acrodermatitis continua suppurativa of Hallopeau is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:79359 ! Other epidermis disorder relationship: part_of Orphanet:79385 ! Unclassified genetic skin disease [Term] id: Orphanet:163934 name: Atopic keratoconjunctivitis xref: ICD10:H16.2 xref: MEDDRA:10069664 xref: SNOMED CT:403434009 xref: UMLS:C1274788 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:101949 ! Rare acquired eye disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis." xsd:string [Term] id: Orphanet:163937 name: X-linked intellectual deficit, Najm type xref: ICD10:Q04.3 xref: OMIM:300749 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:269523 ! Syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:269567 ! Genetic syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "MICPCH" xsd:string property_value: alternative:term "X-linked intellectual deficit - microcephaly - pontocerebellar hypoplasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development." xsd:string [Term] id: Orphanet:163953 name: Intellectual deficit, X-linked, Raymond type xref: OMIM:300799 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:163956 name: Intellectual deficit, X-linked, Nascimento type xref: OMIM:300860 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "X-linked intellectual deficit - nail dystrophy - seizures" xsd:string [Term] id: Orphanet:163961 name: Intellectual deficit, X-linked, Kroes type xref: OMIM:300864 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:269523 ! Syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:269567 ! Genetic syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "X-linked cerebral - cerebellar - coloboma syndrome" xsd:string [Term] id: Orphanet:163966 name: X-linked dominant chondrodysplasia, Chassaing-Lacombe type xref: OMIM:300863 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia" xsd:string [Term] id: Orphanet:163971 name: Intellectual deficit, X-linked, Cilliers type is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181441 ! Non-hypogonadotropic hypogonadism relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "X-linked intellectual deficit - microcephaly - testicular failure" xsd:string [Term] id: Orphanet:163976 name: Intellectual deficit, X-linked, Van Esch type is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181441 ! Non-hypogonadotropic hypogonadism relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:163979 name: Intellectual deficit, X-linked - craniofacioskeletal syndrome xref: OMIM:300712 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:163982 name: X-linked intellectual deficit - spastic quadriparesis xref: OMIM:309640 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:163985 name: Hyperekplexia - epilepsy xref: ICD10:G25.8 xref: OMIM:300607 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183521 ! Rare genetic movement disorder relationship: part_of Orphanet:2076 ! X-linked intellectual deficit - epilepsy relationship: part_of Orphanet:306773 ! Hyperekplexia relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:163988 name: Developmental delay - deafness, Hildebrand type is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:164001 name: Rare odontal or periodontal disorder is_a: Orphanet:77830 ! Rare genetic odontologic disease is_a: Orphanet:98026 ! Rare odontologic disease [Term] id: Orphanet:164004 name: Middle ear anomaly xref: ICD10:Q16.3 xref: ICD10:Q16.4 is_a: Orphanet:96333 ! Rare otorhinolaryngological malformation [Term] id: Orphanet:1642 name: Distal monosomy 9p xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:261929 ! Partial deletion of the short arm of chromosome 9 relationship: part_of Orphanet:325638 ! Syndrome with disorder of sex development of gynecological interest relationship: part_of Orphanet:98087 ! Syndrome with 46,XY disorder of sex development property_value: alternative:term "Distal deletion 9p" xsd:string property_value: alternative:term "Monosomy 9pter" xsd:string property_value: alternative:term "Telomeric deletion 9p" xsd:string [Term] id: Orphanet:1643 name: Xp22.3 microdeletion syndrome xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:263731 ! Partial monosomy of the short arm of chromosome X property_value: alternative:term "Del(X)(p23)" xsd:string [Term] id: Orphanet:1646 name: Partial chromosome Y deletion xref: ICD10:Q98.6 xref: MESH:C536297 xref: OMIM:400042 xref: OMIM:415000 xref: UMLS:C1507149 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:98048 ! Rare male infertility relationship: part_of Orphanet:98158 ! Chromosome Y structural anomaly property_value: alternative:term "Male sterility due to chromosome Y deletion" xsd:string [Term] id: Orphanet:1647 name: Oculocerebrocutaneous syndrome xref: ICD10:Q87.8 xref: MESH:C538088 xref: OMIM:164180 xref: SNOMED CT:403554008 xref: UMLS:C0796092 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:166463 ! Epileptic syndrome relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature property_value: alternative:term "Delleman syndrome" xsd:string property_value: alternative:term "Delleman-Oorthuys syndrome" xsd:string property_value: alternative:term "Leichtman-Wood-Rohn syndrome" xsd:string property_value: alternative:term "OCCS" xsd:string property_value: alternative:term "Orbital cyst with cerebral and focal dermal malformations" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual deficit and is typically characterized by the triad of eye, central nervous system and skin malformations." xsd:string [Term] id: Orphanet:164726 name: Acute myeloid leukemia and myelodysplastic syndromes related to radiation is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:86846 ! Therapy related acute myeloid leukemia and myelodysplastic syndrome [Term] id: Orphanet:164736 name: Familial advanced sleep-phase syndrome xref: ICD10:G47.2 xref: OMIM:604348 xref: OMIM:615224 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:68354 ! Sleep disorder relationship: part_of Orphanet:71859 ! Rare genetic neurological disease property_value: alternative:term "FASPS" xsd:string [Term] id: Orphanet:164823 name: Rare acquired medullar aplasia xref: ICD10:D61.1 xref: ICD10:D61.2 is_a: Orphanet:182040 ! Medullar aplasia [Term] id: Orphanet:165 name: Neutral lipid storage disease xref: ICD10:E75.5 xref: MESH:C536560 xref: SNOMED CT:19604005 xref: UMLS:C0268238 is_a: Orphanet:206953 ! Muscular lipidosis is_a: Orphanet:352312 ! Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 property_value: alternative:term "Lipidosis with triglyceride storage disease" xsd:string [Term] id: Orphanet:1652 name: Dent disease xref: ICD10:N25.8 xref: MEDDRA:10069199 xref: MESH:C545036 xref: MESH:D057973 xref: OMIM:300009 xref: OMIM:300554 xref: OMIM:300555 xref: OMIM:308990 xref: OMIM:310468 xref: SNOMED CT:444645005 xref: UMLS:C0878681 xref: UMLS:C1839874 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183592 ! Genetic renal tubular disease relationship: part_of Orphanet:93603 ! Rare renal tubular disease property_value: alternative:term "Dent syndrome" xsd:string property_value: alternative:term "Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis" xsd:string property_value: alternative:term "Renal Fanconi syndrome with nephrocalcinosis and renal stones" xsd:string property_value: alternative:term "X-linked recessive hypercalciuric hypophosphatemic rickets" xsd:string property_value: alternative:term "X-linked recessive nephrolithiasis" xsd:string [Term] id: Orphanet:1653 name: Dentin dysplasia xref: ICD10:K00.5 xref: MESH:D003805 xref: SNOMED CT:109492001 xref: UMLS:C0011430 is_a: Orphanet:167759 ! Hereditary dentin defect relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "DD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms)." xsd:string [Term] id: Orphanet:1654 name: Natal teeth - intestinal pseudoobstruction - patent ductus xref: OMIM:243185 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component [Term] id: Orphanet:1655 name: Mullerian derivatives - lymphangiectasia - polydactyly xref: OMIM:235255 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:89832 ! Syndromic lymphedema [Term] id: Orphanet:165577 name: hes family bHLH transcription factor 7 xref: ENSEMBL:ENSG00000179111 xref: GENATLAS:HES7 xref: HGNC:15977 xref: OMIM:608059 xref: UNIPROTKB/SWISSPROT:Q9BYE0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2311 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spondylocostal dysostosis property_value: alternative:term "bHLH factor Hes7" xsd:string property_value: alternative:term "bHLHb37" xsd:string property_value: alternative:term "Hairy and enhancer of split 7 (Drosophila)" xsd:string property_value: symbol "HES7" xsd:string [Term] id: Orphanet:1656 name: Dermatitis herpetiformis xref: ICD10:L13.0 xref: MEDDRA:10012468 xref: MESH:D003874 xref: OMIM:601230 xref: SNOMED CT:111196000 xref: UMLS:C0011608 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:79669 ! Autoimmune bullous skin disease property_value: alternative:term "Durhing-Brocq disease" xsd:string [Term] id: Orphanet:165652 name: Rare genetic gastroenterological disease is_a: Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:165655 name: Genetic intestinal disease is_a: Orphanet:165652 ! Rare genetic gastroenterological disease [Term] id: Orphanet:165658 name: Genetic gastro-esophageal disease is_a: Orphanet:165652 ! Rare genetic gastroenterological disease [Term] id: Orphanet:165661 name: Genetic pancreatic disease is_a: Orphanet:165652 ! Rare genetic gastroenterological disease [Term] id: Orphanet:1657 name: Dermatoosteolysis, Kirghizian type xref: MESH:C535373 xref: OMIM:221810 xref: UMLS:C1857301 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome [Term] id: Orphanet:165704 name: Nonsyndromic urogenital tract malformation is_a: Orphanet:83001 ! Urogenital tract malformation [Term] id: Orphanet:165707 name: Syndromic urogenital tract malformation is_a: Orphanet:156622 ! Genetic urogenital tract malformation is_a: Orphanet:83001 ! Urogenital tract malformation [Term] id: Orphanet:165711 name: Rare abdominal surgical disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:1658 name: Absence of fingerprints - congenital milia xref: ICD10:Q82.8 xref: OMIM:129200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79359 ! Other epidermis disorder relationship: part_of Orphanet:79360 ! Other genetic epidermal disease property_value: alternative:term "Absence of dermatoglyphics - congenital milia" xsd:string property_value: alternative:term "Baird syndrome" xsd:string [Term] id: Orphanet:165805 name: Familial mesial temporal lobe epilepsy with febrile seizures xref: OMIM:614417 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:309 ! Familial partial epilepsy [Term] id: Orphanet:165845 name: casein kinase 1, delta xref: ENSEMBL:ENSG00000141551 xref: GENATLAS:CSNK1D xref: HGNC:2452 xref: IUPHAR:1997 xref: OMIM:600864 xref: REACTOME:P48730 xref: UNIPROTKB/SWISSPROT:P48730 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:164736 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial advanced sleep-phase syndrome property_value: alternative:term "CKID" xsd:string property_value: alternative:term "CKIdelta" xsd:string property_value: alternative:term "HCKID" xsd:string property_value: symbol "CSNK1D" xsd:string [Term] id: Orphanet:165848 name: GLIS family zinc finger 3 xref: ENSEMBL:ENSG00000107249 xref: GENATLAS:GLIS3 xref: HGNC:28510 xref: OMIM:610192 xref: UNIPROTKB/SWISSPROT:Q8NEA6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79118 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys property_value: alternative:term "MGC33662" xsd:string property_value: alternative:term "zinc finger protein 515" xsd:string property_value: alternative:term "ZNF515" xsd:string property_value: symbol "GLIS3" xsd:string [Term] id: Orphanet:165856 name: late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 xref: ENSEMBL:ENSG00000116586 xref: GENATLAS:LAMTOR2 xref: HGNC:29796 xref: OMIM:610389 xref: UNIPROTKB/SWISSPROT:Q9Y2Q5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90023 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary immunodeficiency syndrome due to p14 deficiency property_value: alternative:term "ENDAP" xsd:string property_value: alternative:term "Endosomal adaptor protein" xsd:string property_value: alternative:term "MAPBPIP" xsd:string property_value: alternative:term "MAPKSP1 adaptor protein" xsd:string property_value: alternative:term "MAPKSP1AP" xsd:string property_value: alternative:term "Mitogen activated protein binding protein interacting protein" xsd:string property_value: alternative:term "p14" xsd:string property_value: alternative:term "Ragulator2" xsd:string property_value: alternative:term "Roadblock domain containing 3" xsd:string property_value: alternative:term "ROBLD3" xsd:string property_value: symbol "LAMTOR2" xsd:string [Term] id: Orphanet:165904 name: connective tissue growth factor xref: ENSEMBL:ENSG00000118523 xref: GENATLAS:CTGF xref: HGNC:2500 xref: OMIM:121009 xref: REACTOME:P29279 xref: UNIPROTKB/SWISSPROT:P29279 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:220393 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Diffuse cutaneous systemic sclerosis relationship: Orphanet:317345 Orphanet:220402 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Limited cutaneous systemic sclerosis property_value: alternative:term "CCN2" xsd:string property_value: alternative:term "IGFBP8" xsd:string property_value: symbol "CTGF" xsd:string [Term] id: Orphanet:165921 name: sterol carrier protein 2 xref: ENSEMBL:ENSG00000116171 xref: GENATLAS:SCP2 xref: HGNC:10606 xref: OMIM:184755 xref: REACTOME:P22307 xref: UNIPROTKB/SWISSPROT:P22307 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:163684 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leukoencephalopathy - dystonia - motor neuropathy property_value: symbol "SCP2" xsd:string [Term] id: Orphanet:165923 name: scavenger receptor class B, member 2 xref: ENSEMBL:ENSG00000138760 xref: GENATLAS:SCARB2 xref: HGNC:1665 xref: OMIM:602257 xref: UNIPROTKB/SWISSPROT:Q14108 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:163696 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Action myoclonus - renal failure syndrome relationship: Orphanet:317343 Orphanet:308 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Unverricht-Lundborg disease relationship: Orphanet:317346 Orphanet:77259 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gaucher disease type 1 property_value: alternative:term "CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)" xsd:string property_value: alternative:term "CD36L2" xsd:string property_value: alternative:term "HLGP85" xsd:string property_value: alternative:term "LIMP-2" xsd:string property_value: alternative:term "LIMPII" xsd:string property_value: alternative:term "SR-BII" xsd:string property_value: symbol "SCARB2" xsd:string [Term] id: Orphanet:165929 name: prolyl endopeptidase-like xref: ENSEMBL:ENSG00000138078 xref: GENATLAS:PREPL xref: HGNC:30228 xref: OMIM:609557 xref: UNIPROTKB/SWISSPROT:Q4J6C6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:238523 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atypical hypotonia - cystinuria syndrome relationship: Orphanet:317349 Orphanet:163690 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hypotonia - cystinuria syndrome relationship: Orphanet:317349 Orphanet:163693 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 2p21 microdeletion syndrome relationship: Orphanet:317349 Orphanet:369881 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 2p21 microdeletion syndrome without cystinuria property_value: alternative:term "KIAA0436" xsd:string property_value: symbol "PREPL" xsd:string [Term] id: Orphanet:165932 name: contactin associated protein-like 2 xref: ENSEMBL:ENSG00000174469 xref: GENATLAS:CNTNAP2 xref: HGNC:13830 xref: OMIM:604569 xref: UNIPROTKB/SWISSPROT:Q9UHC6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:163681 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cortical dysplasia - focal epilepsy syndrome relationship: Orphanet:317343 Orphanet:221150 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pitt-Hopkins-like syndrome property_value: alternative:term "Caspr2" xsd:string property_value: alternative:term "KIAA0868" xsd:string property_value: alternative:term "NRXN4" xsd:string property_value: symbol "CNTNAP2" xsd:string [Term] id: Orphanet:165955 name: Wound myiasis xref: ICD10:B87.1 xref: SNOMED CT:240880004 xref: UMLS:C0344061 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:99983 ! Cutaneous myiasis [Term] id: Orphanet:165958 name: Cavitary myiasis xref: ICD10:B87.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:75110 ! Myiasis [Term] id: Orphanet:165961 name: Subcutaneous myiasis xref: ICD10:B87.0 xref: SNOMED CT:240879002 xref: UMLS:C0344060 is_a: Orphanet:75110 ! Myiasis [Term] id: Orphanet:165966 name: cholinergic receptor, nicotinic, beta 2 (neuronal) xref: ENSEMBL:ENSG00000160716 xref: GENATLAS:CHRNB2 xref: HGNC:1962 xref: IUPHAR:472 xref: OMIM:118507 xref: REACTOME:P17787 xref: UNIPROTKB/SWISSPROT:P17787 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98784 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nocturnal frontal lobe epilepsy property_value: alternative:term "acetylcholine receptor, nicotinic, beta 2 (neuronal)" xsd:string property_value: alternative:term "cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)" xsd:string property_value: symbol "CHRNB2" xsd:string [Term] id: Orphanet:165976 name: calcium/calmodulin-dependent serine protein kinase (MAGUK family) xref: ENSEMBL:ENSG00000147044 xref: GENATLAS:CASK xref: HGNC:1497 xref: IUPHAR:1959 xref: OMIM:300172 xref: REACTOME:O14936 xref: UNIPROTKB/SWISSPROT:O14936 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:163937 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked intellectual deficit, Najm type property_value: alternative:term "CAGH39" xsd:string property_value: alternative:term "FGS4" xsd:string property_value: alternative:term "LIN2" xsd:string property_value: alternative:term "TNRC8" xsd:string property_value: alternative:term "trinucleotide repeat containing 8" xsd:string property_value: symbol "CASK" xsd:string [Term] id: Orphanet:165985 name: Diazoxide-sensitive diffuse hyperinsulinism xref: ICD10:E16.1 is_a: Orphanet:657 ! Congenital isolated hyperinsulinism property_value: alternative:term "Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form" xsd:string [Term] id: Orphanet:165988 name: Diazoxide-resistant diffuse hyperinsulinism xref: ICD10:E16.1 is_a: Orphanet:276585 ! Diazoxide-resistant hyperinsulinism property_value: alternative:term "Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form" xsd:string [Term] id: Orphanet:165991 name: Exercise-induced hyperinsulinism xref: ICD10:E16.1 xref: OMIM:610021 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:165985 ! Diazoxide-sensitive diffuse hyperinsulinism relationship: part_of Orphanet:309001 ! Disorder of carbohydrate absorption and transport property_value: alternative:term "EIHI" xsd:string property_value: alternative:term "Exercise-induced hyperinsulinemic hypoglycemia" xsd:string property_value: alternative:term "Hyperinsulinism due to monocarboxylate transporter 1 deficiency" xsd:string property_value: alternative:term "Hyperinsulinism due to SLC16A1 deficiency" xsd:string [Term] id: Orphanet:165994 name: Selective pituitary resistance to thyroid hormone xref: ICD10:E05.8 xref: OMIM:145650 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:181399 ! Rare hyperthyroidism [Term] id: Orphanet:166 name: Charcot-Marie-Tooth disease xref: ICD10:G60.0 xref: MEDDRA:10034699 xref: MESH:D002607 xref: SNOMED CT:50548001 xref: UMLS:C0007959 is_a: Orphanet:98497 ! Genetic peripheral neuropathy property_value: alternative:term "Charcot-Marie-Tooth hereditary neuropathy" xsd:string property_value: alternative:term "CMT" xsd:string [Term] id: Orphanet:1660 name: Dermo-odonto dysplasia xref: ICD10:Q82.4 xref: OMIM:125640 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome [Term] id: Orphanet:166002 name: Multiple epiphyseal dysplasia due to collagen 9 anomaly xref: ICD10:Q77.3 xref: OMIM:600204 xref: OMIM:600969 xref: OMIM:614135 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:251 ! Multiple epiphyseal dysplasia [Term] id: Orphanet:166011 name: Multiple epiphyseal dysplasia, Beighton type xref: ICD10:Q77.3 xref: OMIM:132450 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:251 ! Multiple epiphyseal dysplasia relationship: part_of Orphanet:93421 ! Type 2 collagen-related bone disorder property_value: alternative:term "Multiple epiphyseal dysplasia - myopia - deafness" xsd:string [Term] id: Orphanet:166016 name: Multiple epiphyseal dysplasia, Lowry type xref: ICD10:Q78.8 xref: OMIM:601560 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251 ! Multiple epiphyseal dysplasia property_value: alternative:term "Multiple epiphyseal dysplasia with Robin phenotype" xsd:string [Term] id: Orphanet:166024 name: Multiple epiphyseal dysplasia, Al-Gazali type xref: ICD10:Q77.3 xref: OMIM:607131 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:251 ! Multiple epiphyseal dysplasia property_value: alternative:term "Multiple epiphyseal dysplasia - macrocephaly - distinctive facies" xsd:string [Term] id: Orphanet:166029 name: Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia xref: ICD10:Q77.3 xref: OMIM:609324 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251 ! Multiple epiphyseal dysplasia [Term] id: Orphanet:166032 name: Multiple epiphyseal dysplasia, with miniepiphyses xref: ICD10:Q77.3 xref: OMIM:609325 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251 ! Multiple epiphyseal dysplasia [Term] id: Orphanet:166035 name: Metaphyseal chondrodysplasia - retinitis pigmentosa xref: OMIM:250410 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93430 ! Multiple metaphyseal dysplasia [Term] id: Orphanet:166038 name: Metaphyseal chondrodysplasia, Kaitila type xref: OMIM:250230 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93430 ! Multiple metaphyseal dysplasia [Term] id: Orphanet:166055 name: Cdc42 guanine nucleotide exchange factor (GEF) 9 xref: ENSEMBL:ENSG00000131089 xref: GENATLAS:ARHGEF9 xref: HGNC:14561 xref: OMIM:300429 xref: REACTOME:O43307 xref: UNIPROTKB/SWISSPROT:O43307 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:163985 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperekplexia - epilepsy property_value: alternative:term "collybistin" xsd:string property_value: alternative:term "KIAA0424" xsd:string property_value: alternative:term "PEM-2" xsd:string property_value: symbol "ARHGEF9" xsd:string [Term] id: Orphanet:166063 name: Pontocerebellar hypoplasia type 4 xref: ICD10:Q04.3 xref: MESH:C536716 xref: OMIM:225753 xref: UMLS:C1856974 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98523 ! Nonsyndromic pontocerebellar hypoplasia property_value: alternative:term "Fatal infantile encephalopathy with olivopontocerebellar hypoplasia" xsd:string property_value: alternative:term "Olivopontocerebellar hypoplasia" xsd:string property_value: alternative:term "PCH4" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death." xsd:string [Term] id: Orphanet:166068 name: Pontocerebellar hypoplasia type 5 xref: ICD10:Q04.3 xref: OMIM:610204 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98523 ! Nonsyndromic pontocerebellar hypoplasia property_value: alternative:term "Fetal-onset olivopontocerebellar hypoplasia" xsd:string property_value: alternative:term "PCH5" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH (see this terme) with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5." xsd:string [Term] id: Orphanet:166073 name: Pontocerebellar hypoplasia type 6 xref: ICD10:Q04.3 xref: MESH:C548074 xref: OMIM:611523 xref: UMLS:C1969084 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis relationship: part_of Orphanet:98523 ! Nonsyndromic pontocerebellar hypoplasia property_value: alternative:term "Fatal infantile encephalopathy with mitochondrial respiratory chain defects" xsd:string property_value: alternative:term "PCH6" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis." xsd:string [Term] id: Orphanet:166078 name: Von Willebrand disease type 1 xref: ICD10:D68.0 xref: MESH:D056725 xref: OMIM:193400 xref: SNOMED CT:128106003 xref: UMLS:C1264039 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:903 ! Von Willebrand disease property_value: alternative:term "Willebrand disease type 1" xsd:string [Term] id: Orphanet:166081 name: Von Willebrand disease type 2 xref: ICD10:D68.0 xref: MESH:D056728 xref: OMIM:613554 xref: SNOMED CT:128107007 xref: UMLS:C1264040 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:903 ! Von Willebrand disease property_value: alternative:term "Willebrand disease type 2" xsd:string [Term] id: Orphanet:166084 name: Von Willebrand disease type 2A xref: ICD10:D68.0 xref: OMIM:613554 xref: SNOMED CT:359711001 xref: SNOMED CT:359714009 xref: SNOMED CT:87397002 xref: UMLS:C1282968 is_a: Orphanet:166081 ! Von Willebrand disease type 2 relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:166087 name: Von Willebrand disease type 2B xref: ICD10:D68.0 xref: OMIM:613554 xref: SNOMED CT:19520006 xref: SNOMED CT:359717002 xref: SNOMED CT:359721009 xref: UMLS:C1282971 is_a: Orphanet:166081 ! Von Willebrand disease type 2 relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:166090 name: Von Willebrand disease type 2M xref: ICD10:D68.0 xref: OMIM:613554 xref: SNOMED CT:359729006 xref: UMLS:C1282974 is_a: Orphanet:166081 ! Von Willebrand disease type 2 relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:166093 name: Von Willebrand disease type 2N xref: ICD10:D68.0 xref: OMIM:613554 xref: SNOMED CT:359732009 xref: UMLS:C1282975 is_a: Orphanet:166081 ! Von Willebrand disease type 2 relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:166096 name: Von Willebrand disease type 3 xref: ICD10:D68.0 xref: MESH:D056729 xref: OMIM:277480 xref: SNOMED CT:128108002 xref: UMLS:C1264041 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:903 ! Von Willebrand disease property_value: alternative:term "Willebrand disease type 3" xsd:string [Term] id: Orphanet:1661 name: X-linked corneal dermoid xref: ICD10:Q13.4 xref: OMIM:304730 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98628 ! Syndromic corneal dystrophy property_value: alternative:term "Corneal dystrophy epithelial - short stature" xsd:string property_value: alternative:term "Guízar-Vázquez - Luengas-Muñoz syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "X-linked corneal dermoid refers to the presence of abnormal mesoblastic tissue covered by epithelium resulting in bilateral corneal opacification with no other ocular or systemic abnormality." xsd:string [Term] id: Orphanet:166100 name: Stickler syndrome type 3 xref: ICD10:Q87.5 xref: MESH:C537494 xref: OMIM:184840 xref: UMLS:C1861481 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:138041 ! Pierre Robin syndrome associated with collagen disease relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:93422 ! Type 11 collagen-related bone disorder property_value: alternative:term "Stickler syndrome, nonocular type" xsd:string [Term] id: Orphanet:166105 name: FASTKD2-related infantile mitochondrial encephalomyopathy is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254822 ! Mitochondrial oxidative phosphorylation disorder with no known mechanism relationship: part_of Orphanet:68385 ! Neurometabolic disease [Term] id: Orphanet:166108 name: Intellectual deficit, Birk-Barel type xref: OMIM:612292 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Intellectual deficit - hypotonia - facial dysmorphism" xsd:string [Term] id: Orphanet:166113 name: Bazex syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:90077 ! Other acquired skin disease property_value: alternative:term "Acrokeratosis of Bazex" xsd:string property_value: alternative:term "Acrokeratosis paraneoplastica" xsd:string [Term] id: Orphanet:166119 name: Isolated osteopoikilosis xref: ICD10:Q78.8 xref: OMIM:166700 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:2781 ! Osteopetrosis [Term] id: Orphanet:1662 name: Lethal restrictive dermopathy xref: ICD10:Q82.8 xref: OMIM:275210 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit [Term] id: Orphanet:166255 name: potassium channel, subfamily K, member 9 xref: ENSEMBL:ENSG00000169427 xref: GENATLAS:KCNK9 xref: HGNC:6283 xref: IUPHAR:520 xref: OMIM:605874 xref: REACTOME:Q9NPC2 xref: UNIPROTKB/SWISSPROT:Q9NPC2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:166108 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intellectual deficit, Birk-Barel type property_value: alternative:term "K2p9.1" xsd:string property_value: alternative:term "TASK-3" xsd:string property_value: alternative:term "TASK3" xsd:string property_value: symbol "KCNK9" xsd:string [Term] id: Orphanet:166260 name: Dentinogenesis imperfecta type 2 xref: ICD10:K00.5 xref: OMIM:125490 xref: OMIM:605594 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:49042 ! Dentinogenesis imperfecta property_value: alternative:term "Capdepont teeth" xsd:string property_value: alternative:term "Dentinogenesis imperfecta, Shields type 2" xsd:string property_value: alternative:term "DGI-2" xsd:string property_value: alternative:term "DI-2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth." xsd:string [Term] id: Orphanet:166265 name: Dentinogenesis imperfecta type 3 xref: ICD10:K00.5 xref: OMIM:125500 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:49042 ! Dentinogenesis imperfecta property_value: alternative:term "Dentinogenesis imperfecta, Shields type 3" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy)." xsd:string [Term] id: Orphanet:166272 name: Goldblatt syndrome xref: OMIM:184260 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:180766 ! Malformative syndrome with dentinogenesis imperfecta relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:254 ! Spondylometaphyseal dysplasia property_value: alternative:term "Chondrodysplasia - dentinogenesis imperfecta - joint laxity" xsd:string property_value: alternative:term "Goldblatt chondrodysplasia" xsd:string property_value: alternative:term "ODCD" xsd:string property_value: alternative:term "Odontochondrodysplasia" xsd:string [Term] id: Orphanet:166277 name: Suarez-Stickler syndrome xref: OMIM:604922 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:180766 ! Malformative syndrome with dentinogenesis imperfecta relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:93446 ! Primary bone dysplasia with decreased bone density property_value: alternative:term "Skeletal dysplasia with wormian bone - multiple fractures - dentin abnormality" xsd:string [Term] id: Orphanet:166282 name: Familial sick sinus syndrome xref: MEDDRA:10040639 xref: MESH:D012804 xref: OMIM:163800 xref: OMIM:608567 xref: OMIM:614090 xref: SNOMED CT:36083008 xref: UMLS:C0037052 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease property_value: alternative:term "Familial sinus node dysfunction" xsd:string [Term] id: Orphanet:166286 name: Porokeratotic eccrine ostial and dermal duct nevus xref: ICD10:Q82.5 xref: SNOMED CT:239118007 xref: UMLS:C0473579 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:294057 ! Rare nevus property_value: alternative:term "Comedo nevus of the palm" xsd:string property_value: alternative:term "Porokeratotic eccrine nevus" xsd:string [Term] id: Orphanet:166291 name: Dirofilariasis xref: ICD10:B74.8 xref: MESH:D004184 xref: SNOMED CT:73328005 xref: UMLS:C0012602 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2034 ! Filariasis [Term] id: Orphanet:166295 name: Benign non-familial infantile seizures xref: ICD10:G40.4 is_a: Orphanet:166311 ! Benign partial infantile seizures [Term] id: Orphanet:166299 name: Benign partial epilepsy of infancy with complex partial seizures xref: ICD10:G40.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:166295 ! Benign non-familial infantile seizures [Term] id: Orphanet:166302 name: Benign partial epilepsy with secondarily generalized seizures in infancy xref: ICD10:G40.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:166295 ! Benign non-familial infantile seizures [Term] id: Orphanet:166305 name: Benign infantile seizures associated to mild gastroenteritis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:166311 ! Benign partial infantile seizures [Term] id: Orphanet:166308 name: Benign infantile focal epilepsy with midline spikes and wave during sleep is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:166311 ! Benign partial infantile seizures [Term] id: Orphanet:166311 name: Benign partial infantile seizures is_a: Orphanet:98258 ! Infantile epilepsy syndrome [Term] id: Orphanet:166392 name: contactin 4 xref: ENSEMBL:ENSG00000144619 xref: GENATLAS:CNTN4 xref: HGNC:2174 xref: OMIM:607280 xref: UNIPROTKB/SWISSPROT:Q8IWV2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:1620 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Distal monosomy 3p property_value: alternative:term "BIG-2" xsd:string property_value: symbol "CNTN4" xsd:string [Term] id: Orphanet:166396 name: cell adhesion molecule L1-like xref: ENSEMBL:ENSG00000134121 xref: GENATLAS:CHL1 xref: HGNC:1939 xref: OMIM:607416 xref: REACTOME:O00533 xref: UNIPROTKB/SWISSPROT:O00533 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:1620 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Distal monosomy 3p property_value: alternative:term "CALL" xsd:string property_value: alternative:term "Cell adhesion molecule with homology to L1CAM (close homolog of L1)" xsd:string property_value: alternative:term "cell adhesion molecule with homology to L1CAM (close homologue of L1)" xsd:string property_value: alternative:term "close homolog of L1" xsd:string property_value: alternative:term "FLJ44930" xsd:string property_value: alternative:term "L1CAM2" xsd:string property_value: alternative:term "MGC132578" xsd:string property_value: alternative:term "neural cell adhesion molecule" xsd:string property_value: symbol "CHL1" xsd:string [Term] id: Orphanet:166409 name: Photosensitive epilepsy xref: ICD10:G40.8 xref: OMIM:132100 xref: OMIM:226800 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:310 ! Reflex epilepsy [Term] id: Orphanet:166412 name: Hot water reflex epilepsy xref: ICD10:G40.8 xref: OMIM:613339 xref: OMIM:613340 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:310 ! Reflex epilepsy [Term] id: Orphanet:166415 name: Audiogenic seizures xref: ICD10:G40.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:310 ! Reflex epilepsy [Term] id: Orphanet:166418 name: Eating seizures xref: ICD10:G40.8 xref: SNOMED CT:230450001 xref: UMLS:C0393725 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:310 ! Reflex epilepsy [Term] id: Orphanet:166421 name: Orgasm-induced seizures xref: ICD10:G40.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:310 ! Reflex epilepsy [Term] id: Orphanet:166424 name: Thinking seizures xref: ICD10:G40.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:310 ! Reflex epilepsy [Term] id: Orphanet:166427 name: Startle epilepsy xref: ICD10:G40.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:310 ! Reflex epilepsy [Term] id: Orphanet:166430 name: Micturation-induced seizures xref: ICD10:G40.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:310 ! Reflex epilepsy [Term] id: Orphanet:166433 name: Reading seizures xref: ICD10:G40.8 xref: OMIM:132300 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:310 ! Reflex epilepsy [Term] id: Orphanet:166457 name: Other forms of non-paraneoplastic limbic encephalitis is_a: Orphanet:163918 ! Non-paraneoplastic limbic encephalitis [Term] id: Orphanet:166463 name: Epileptic syndrome xref: ICD10:G40.4 is_a: Orphanet:101998 ! Rare epilepsy is_a: Orphanet:183512 ! Rare genetic epilepsy [Term] id: Orphanet:166466 name: Neurocutaneous syndrome with epilepsy is_a: Orphanet:101998 ! Rare epilepsy is_a: Orphanet:183512 ! Rare genetic epilepsy [Term] id: Orphanet:166469 name: Chromosomal anomaly with epilepsy as a major feature is_a: Orphanet:101998 ! Rare epilepsy [Term] id: Orphanet:166472 name: Monogenic disease with epilepsy is_a: Orphanet:101998 ! Rare epilepsy is_a: Orphanet:183512 ! Rare genetic epilepsy [Term] id: Orphanet:166475 name: Idiopathic or cryptogenic familial epileptic syndrome with identified loci/genes is_a: Orphanet:101998 ! Rare epilepsy is_a: Orphanet:183512 ! Rare genetic epilepsy [Term] id: Orphanet:166478 name: Cerebral malformation with epilepsy is_a: Orphanet:101998 ! Rare epilepsy is_a: Orphanet:183512 ! Rare genetic epilepsy [Term] id: Orphanet:166481 name: Metabolic diseases with epilepsy xref: SNOMED CT:371022006 xref: UMLS:C1299598 is_a: Orphanet:101998 ! Rare epilepsy [Term] id: Orphanet:166484 name: Inflammatory and autoimmune disease with epilepsy is_a: Orphanet:101998 ! Rare epilepsy [Term] id: Orphanet:166487 name: Cerebral diseases of vascular origin with epilepsy is_a: Orphanet:101998 ! Rare epilepsy is_a: Orphanet:183512 ! Rare genetic epilepsy [Term] id: Orphanet:166490 name: Infectious disease with epilepsy is_a: Orphanet:101998 ! Rare epilepsy [Term] id: Orphanet:1666 name: Dextrocardia xref: ICD10:Q24.0 xref: MEDDRA:10012592 xref: MESH:D003914 xref: SNOMED CT:27637000 xref: SNOMED CT:74034002 xref: UMLS:C0011813 xref: UMLS:C0265863 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:450 ! Heterotaxia [Term] id: Orphanet:166683 name: syntaxin binding protein 1 xref: ENSEMBL:ENSG00000136854 xref: GENATLAS:STXBP1 xref: HGNC:11444 xref: OMIM:602926 xref: REACTOME:P61764 xref: UNIPROTKB/SWISSPROT:P61764 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1934 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early infantile epileptic encephalopathy property_value: alternative:term "hUNC18" xsd:string property_value: alternative:term "MUNC18-1" xsd:string property_value: alternative:term "rbSec1" xsd:string property_value: alternative:term "syntaxin-binding protein 1" xsd:string property_value: alternative:term "UNC18" xsd:string property_value: symbol "STXBP1" xsd:string [Term] id: Orphanet:166690 name: NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 xref: ENSEMBL:ENSG00000123545 xref: GENATLAS:NDUFAF4 xref: HGNC:21034 xref: OMIM:611776 xref: UNIPROTKB/SWISSPROT:Q9P032 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency property_value: alternative:term "bA22L21.1" xsd:string property_value: alternative:term "C6orf66" xsd:string property_value: alternative:term "chromosome 6 open reading frame 66" xsd:string property_value: alternative:term "HRPAP20" xsd:string property_value: alternative:term "HSPC125" xsd:string property_value: alternative:term "My013" xsd:string property_value: alternative:term "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4" xsd:string property_value: symbol "NDUFAF4" xsd:string [Term] id: Orphanet:1667 name: Wolcott-Rallison syndrome xref: ICD10:E10 xref: MESH:C536739 xref: OMIM:226980 xref: SNOMED CT:254066006 xref: UMLS:C0432217 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181381 ! Other rare diabetes mellitus relationship: part_of Orphanet:183625 ! Rare genetic diabetes mellitus relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia property_value: alternative:term "Early-onset diabetes mellitus with multiple epiphyseal dysplasia" xsd:string property_value: alternative:term "WRS" xsd:string [Term] id: Orphanet:166715 name: G elongation factor, mitochondrial 1 xref: ENSEMBL:ENSG00000168827 xref: GENATLAS:GFM1 xref: HGNC:13780 xref: OMIM:606639 xref: UNIPROTKB/SWISSPROT:Q96RP9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:137681 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 property_value: alternative:term "EFG" xsd:string property_value: alternative:term "EFG1" xsd:string property_value: alternative:term "EFGM" xsd:string property_value: alternative:term "EGF1" xsd:string property_value: alternative:term "G translation elongation factor, mitochondrial" xsd:string property_value: alternative:term "GFM" xsd:string property_value: symbol "GFM1" xsd:string [Term] id: Orphanet:166720 name: integrin, alpha 7 xref: ENSEMBL:ENSG00000135424 xref: GENATLAS:ITGA7 xref: HGNC:6143 xref: OMIM:600536 xref: REACTOME:Q13683 xref: UNIPROTKB/SWISSPROT:Q13683 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2020 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital fiber-type disproportion myopathy relationship: Orphanet:317343 Orphanet:34520 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital muscular dystrophy with integrin alpha-7 deficiency property_value: symbol "ITGA7" xsd:string [Term] id: Orphanet:166722 name: CDGSH iron sulfur domain 2 xref: ENSEMBL:ENSG00000145354 xref: GENATLAS:CISD2 xref: HGNC:24212 xref: OMIM:611507 xref: UNIPROTKB/SWISSPROT:Q8N5K1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3463 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Wolfram syndrome property_value: alternative:term "endoplasmic reticulum intermembrane small protein" xsd:string property_value: alternative:term "ERIS" xsd:string property_value: alternative:term "Miner1" xsd:string property_value: alternative:term "mitoNEET related 1" xsd:string property_value: alternative:term "WFS2" xsd:string property_value: alternative:term "Wolfram syndrome 2" xsd:string property_value: alternative:term "ZCD2" xsd:string property_value: alternative:term "zinc finger, CDGSH-type domain 2" xsd:string property_value: symbol "CISD2" xsd:string [Term] id: Orphanet:166726 name: ubiquinol-cytochrome c reductase binding protein xref: ENSEMBL:ENSG00000156467 xref: GENATLAS:UQCRB xref: HGNC:12582 xref: OMIM:191330 xref: REACTOME:P14927 xref: UNIPROTKB/SWISSPROT:P14927 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1460 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated CoQ-cytochrome C reductase deficiency property_value: alternative:term "cytochrome b-c1 complex subunit 7" xsd:string property_value: alternative:term "QCR7" xsd:string property_value: alternative:term "QP-C" xsd:string property_value: alternative:term "ubiquinol-cytochrome c reductase, complex III subunit VI" xsd:string property_value: alternative:term "UQBP" xsd:string property_value: alternative:term "UQCR6" xsd:string property_value: symbol "UQCRB" xsd:string [Term] id: Orphanet:166731 name: thyroid stimulating hormone, beta xref: ENSEMBL:ENSG00000134200 xref: GENATLAS:TSHB xref: HGNC:12372 xref: OMIM:188540 xref: REACTOME:P01222 xref: UNIPROTKB/SWISSPROT:P01222 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90674 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated thyroid-stimulating hormone deficiency property_value: symbol "TSHB" xsd:string [Term] id: Orphanet:166766 name: mitochondrially encoded tRNA histidine xref: ENSEMBL:ENSG00000210176 xref: GENATLAS:MT-TH xref: HGNC:7487 xref: OMIM:590040 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:550 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MELAS syndrome relationship: Orphanet:317343 Orphanet:551 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MERRF syndrome relationship: Orphanet:317343 Orphanet:90641 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial nonsyndromic sensorineural deafness property_value: alternative:term "MTTH" xsd:string property_value: alternative:term "tRNA histidine" xsd:string property_value: alternative:term "trnH" xsd:string property_value: symbol "MT-TH" xsd:string [Term] id: Orphanet:166775 name: Rare hemorrhagic disorder due to an acquired coagulation factor defect is_a: Orphanet:248315 ! Rare hemorrhagic disorder due to a coagulation factors defect property_value: alternative:term "Rare bleeding disorder due to an acquired coagulation factor defect" xsd:string property_value: alternative:term "Rare coagulopathy due to an acquired coagulation factor defect" xsd:string [Term] id: Orphanet:166795 name: solute carrier family 22 (organic anion/urate transporter), member 12 xref: ENSEMBL:ENSG00000197891 xref: GENATLAS:SLC22A12 xref: HGNC:17989 xref: OMIM:607096 xref: REACTOME:Q96S37 xref: UNIPROTKB/SWISSPROT:Q96S37 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:94088 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary renal hypouricemia property_value: alternative:term "OAT4L" xsd:string property_value: alternative:term "RST" xsd:string property_value: alternative:term "solute carrier family 22 (organic anion/cation transporter), member 12" xsd:string property_value: alternative:term "URAT1" xsd:string property_value: symbol "SLC22A12" xsd:string [Term] id: Orphanet:166800 name: otoancorin xref: ENSEMBL:ENSG00000155719 xref: GENATLAS:OTOA xref: HGNC:16378 xref: OMIM:607038 xref: UNIPROTKB/SWISSPROT:Q7RTW8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "cancer/testis antigen 108" xsd:string property_value: alternative:term "CT108" xsd:string property_value: alternative:term "deafness, autosomal recessive 22" xsd:string property_value: alternative:term "DFNB22" xsd:string property_value: symbol "OTOA" xsd:string [Term] id: Orphanet:166803 name: myosin IA xref: ENSEMBL:ENSG00000166866 xref: GENATLAS:MYO1A xref: HGNC:7595 xref: OMIM:601478 xref: UNIPROTKB/SWISSPROT:Q9UBC5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA property_value: alternative:term "DFNA48" xsd:string property_value: alternative:term "MYHL" xsd:string property_value: symbol "MYO1A" xsd:string [Term] id: Orphanet:166807 name: deafness, autosomal recessive 59 xref: ENSEMBL:ENSG00000204311 xref: GENATLAS:DFNB59 xref: HGNC:29502 xref: OMIM:610219 xref: UNIPROTKB/SWISSPROT:Q0ZLH3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "pejvakin" xsd:string property_value: symbol "DFNB59" xsd:string [Term] id: Orphanet:166809 name: crystallin, mu xref: ENSEMBL:ENSG00000103316 xref: GENATLAS:CRYM xref: HGNC:2418 xref: OMIM:123740 xref: UNIPROTKB/SWISSPROT:Q14894 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA property_value: alternative:term "DFNA40" xsd:string property_value: alternative:term "thiomorpholine-carboxylate dehydrogenase" xsd:string property_value: symbol "CRYM" xsd:string [Term] id: Orphanet:166812 name: claudin 14 xref: ENSEMBL:ENSG00000159261 xref: GENATLAS:CLDN14 xref: HGNC:2035 xref: OMIM:605608 xref: REACTOME:O95500 xref: UNIPROTKB/SWISSPROT:O95500 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "DFNB29" xsd:string property_value: symbol "CLDN14" xsd:string [Term] id: Orphanet:166815 name: actin, gamma 1 xref: ENSEMBL:ENSG00000184009 xref: GENATLAS:ACTG1 xref: HGNC:144 xref: OMIM:102560 xref: REACTOME:P63261 xref: UNIPROTKB/SWISSPROT:P63261 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2995 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Baraitser-Winter syndrome relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA property_value: alternative:term "ACTG" xsd:string property_value: alternative:term "deafness, autosomal dominant 20; deafness, autosomal dominant 26" xsd:string property_value: alternative:term "DFNA20" xsd:string property_value: alternative:term "DFNA26" xsd:string property_value: symbol "ACTG1" xsd:string [Term] id: Orphanet:166892 name: growth differentiation factor 1 xref: ENSEMBL:ENSG00000130283 xref: GENATLAS:GDF1 xref: HGNC:4214 xref: OMIM:602880 xref: REACTOME:P27539 xref: UNIPROTKB/SWISSPROT:P27539 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:3303 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Tetralogy of Fallot relationship: Orphanet:317345 Orphanet:3426 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Double outlet right ventricle property_value: symbol "GDF1" xsd:string [Term] id: Orphanet:167 name: Chédiak-Higashi syndrome xref: ICD10:E70.3 xref: MEDDRA:10008415 xref: MESH:D002609 xref: OMIM:214500 xref: SNOMED CT:111396008 xref: UMLS:C0007965 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183494 ! Genetic immune deficiency with skin involvement relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:207015 ! Rare hereditary disease with peripheral neuropathy relationship: part_of Orphanet:284811 ! Syndromic oculocutaneous albinism relationship: part_of Orphanet:309340 ! Disorder of lysosomal-related organelles relationship: part_of Orphanet:331184 ! Constitutional neutropenia with extra-haematopoietic manifestations relationship: part_of Orphanet:331249 ! Immunodeficiency syndrome with hypopigmentation relationship: part_of Orphanet:79391 ! Immune deficiency with skin involvement relationship: part_of Orphanet:98456 ! Dense granule disease property_value: alternative:term "Chédiak-Higashi disease" xsd:string property_value: alternative:term "Chédiak-Higashi-Steinbrink syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described." xsd:string [Term] id: Orphanet:1670 name: Chronic diarrhea with villous atrophy xref: ICD10:K59.1 xref: OMIM:520100 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:254767 ! Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA relationship: part_of Orphanet:363300 ! Genetic intractable diarrhea of infancy relationship: part_of Orphanet:73014 ! Intractable diarrhea of infancy [Term] id: Orphanet:1671 name: Diastematomyelia xref: ICD10:Q06.2 xref: MEDDRA:10012750 xref: OMIM:222500 xref: SNOMED CT:49351009 xref: UMLS:C0011999 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:268843 ! Malformation of the neurenteric canal, spinal cord and column [Term] id: Orphanet:1672 name: Diencephalic syndrome xref: ICD10:C72.8 xref: SNOMED CT:237733001 xref: UMLS:C0342436 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:181384 ! Rare hypothalamic or pituitary disease relationship: part_of Orphanet:252190 ! Inherited nervous system cancer-predisposing syndrome [Term] id: Orphanet:1674 name: Digitorenocerebral syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_79500 with label: Autosomal recessive deafness-onychodystrophy syndrome" xsd:string [Term] id: Orphanet:1675 name: Dihydropyrimidine dehydrogenase deficiency xref: ICD10:E79.8 xref: MEDDRA:10052622 xref: MESH:D054067 xref: OMIM:274270 xref: SNOMED CT:77365006 xref: UMLS:C1959620 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:79193 ! Disorder of pyrimidine metabolism property_value: alternative:term "Familial pyrimidinemia" xsd:string [Term] id: Orphanet:1676 name: Idiopathic pulmonary artery dilatation xref: ICD10:E25.7 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98719 ! Pulmonary artery or pulmonary branch anomaly [Term] id: Orphanet:167635 name: Scleromyxedema xref: ICD10:L98.5 xref: MEDDRA:10055046 xref: MESH:D053718 xref: SNOMED CT:111197009 xref: SNOMED CT:402468007 xref: UMLS:C0263390 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:183484 ! Genetic subcutaneous tissue disease relationship: part_of Orphanet:79382 ! Subcutaneous tissue disease property_value: alternative:term "Arndt-Gottron disease" xsd:string property_value: alternative:term "Generalized lichenoid papular eruption" xsd:string property_value: alternative:term "Generalized papular and sclerodermoid lichen myxedematosus" xsd:string [Term] id: Orphanet:1677 name: Familial idiopathic dilatation of the right atrium xref: ICD10:Q20.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98054 ! Rare genetic cardiac disease relationship: part_of Orphanet:98727 ! Atrial defect and interauricular communication [Term] id: Orphanet:167714 name: Unclassified acute myeloid leukemia is_a: Orphanet:519 ! Acute myeloid leukemia [Term] id: Orphanet:167742 name: mediator complex subunit 25 xref: ENSEMBL:ENSG00000104973 xref: GENATLAS:MED25 xref: HGNC:28845 xref: OMIM:610197 xref: REACTOME:Q71SY5 xref: UNIPROTKB/SWISSPROT:Q71SY5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101101 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Charcot-Marie-Tooth disease type 2B2 property_value: alternative:term "ACID1" xsd:string property_value: alternative:term "ARC92" xsd:string property_value: alternative:term "DKFZp434K0512" xsd:string property_value: alternative:term "mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "TCBAP0758" xsd:string property_value: symbol "MED25" xsd:string [Term] id: Orphanet:167759 name: Hereditary dentin defect xref: ICD10:K00.5 is_a: Orphanet:164001 ! Rare odontal or periodontal disorder [Term] id: Orphanet:167762 name: Rare disease with dentinogenesis imperfecta is_a: Orphanet:77830 ! Rare genetic odontologic disease is_a: Orphanet:98027 ! Rare disease with odontological manifestation [Term] id: Orphanet:1678 name: Dincsoy-Salih-Patel syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_3157 with label: Septo-optic dysplasia" xsd:string [Term] id: Orphanet:167848 name: Cardiomyopathy xref: MEDDRA:10007636 xref: MESH:D009202 xref: SNOMED CT:57809008 xref: SNOMED CT:85898001 xref: UMLS:C0878544 is_a: Orphanet:97929 ! Rare cardiac disease [Term] id: Orphanet:167854 name: forkhead box G1 xref: ENSEMBL:ENSG00000176165 xref: GENATLAS:FOXG1 xref: HGNC:3811 xref: OMIM:164874 xref: UNIPROTKB/SWISSPROT:P55316 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3095 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atypical Rett syndrome relationship: Orphanet:317349 Orphanet:261144 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 14q12 microdeletion syndrome relationship: Orphanet:317349 Orphanet:261229 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 14q11.2 microduplication syndrome property_value: alternative:term "BF1" xsd:string property_value: alternative:term "FKH2" xsd:string property_value: alternative:term "FKHL1" xsd:string property_value: alternative:term "FKHL2" xsd:string property_value: alternative:term "FKHL3" xsd:string property_value: alternative:term "FKHL4" xsd:string property_value: alternative:term "forkhead box G1A" xsd:string property_value: alternative:term "forkhead box G1B" xsd:string property_value: alternative:term "forkhead box G1C" xsd:string property_value: alternative:term "FOXG1A" xsd:string property_value: alternative:term "FOXG1B" xsd:string property_value: alternative:term "FOXG1C" xsd:string property_value: alternative:term "HBF-3" xsd:string property_value: alternative:term "HFK1" xsd:string property_value: alternative:term "HFK2" xsd:string property_value: alternative:term "HFK3" xsd:string property_value: alternative:term "QIN" xsd:string property_value: symbol "FOXG1" xsd:string [Term] id: Orphanet:167870 name: glypican 4 xref: ENSEMBL:ENSG00000076716 xref: GENATLAS:GPC4 xref: HGNC:4452 xref: OMIM:300168 xref: REACTOME:O75487 xref: UNIPROTKB/SWISSPROT:O75487 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:373 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Simpson-Golabi-Behmel syndrome property_value: alternative:term "glypican proteoglycan 4" xsd:string property_value: alternative:term "K-glypican" xsd:string property_value: symbol "GPC4" xsd:string [Term] id: Orphanet:167875 name: toll-like receptor 3 xref: ENSEMBL:ENSG00000164342 xref: GENATLAS:TLR3 xref: HGNC:11849 xref: OMIM:603029 xref: REACTOME:O15455 xref: UNIPROTKB/SWISSPROT:O15455 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:1930 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Herpetic encephalitis property_value: alternative:term "CD283" xsd:string property_value: symbol "TLR3" xsd:string [Term] id: Orphanet:167879 name: phosphoglycerate mutase 2 (muscle) xref: ENSEMBL:ENSG00000164708 xref: GENATLAS:PGAM2 xref: HGNC:8889 xref: OMIM:612931 xref: REACTOME:P15259 xref: UNIPROTKB/SWISSPROT:P15259 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:97234 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to phosphoglycerate mutase deficiency property_value: alternative:term "PGAM-M" xsd:string property_value: symbol "PGAM2" xsd:string [Term] id: Orphanet:167883 name: DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked xref: ENSEMBL:ENSG00000067048 xref: GENATLAS:DDX3Y xref: HGNC:2699 xref: OMIM:400010 xref: UNIPROTKB/SWISSPROT:O15523 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:1646 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Partial chromosome Y deletion property_value: alternative:term "DBY" xsd:string property_value: alternative:term "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked" xsd:string property_value: alternative:term "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome" xsd:string property_value: symbol "DDX3Y" xsd:string [Term] id: Orphanet:167886 name: period circadian clock 2 xref: ENSEMBL:ENSG00000132326 xref: GENATLAS:PER2 xref: HGNC:8846 xref: OMIM:603426 xref: REACTOME:O15055 xref: UNIPROTKB/SWISSPROT:O15055 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:164736 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial advanced sleep-phase syndrome property_value: alternative:term "KIAA0347" xsd:string property_value: alternative:term "period (Drosophila) homolog 2" xsd:string property_value: alternative:term "Period homolog 2 (Drosophila)" xsd:string property_value: symbol "PER2" xsd:string [Term] id: Orphanet:167889 name: pleckstrin homology domain containing, family G (with RhoGef domain) member 5 xref: ENSEMBL:ENSG00000171680 xref: GENATLAS:PLEKHG5 xref: HGNC:29105 xref: OMIM:611101 xref: REACTOME:O94827 xref: UNIPROTKB/SWISSPROT:O94827 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:206580 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive lower motor neuron disease with childhood onset relationship: Orphanet:317343 Orphanet:369867 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive intermediate Charcot-Marie-Tooth disease type C property_value: alternative:term "GEF720" xsd:string property_value: alternative:term "KIAA0720" xsd:string property_value: alternative:term "synectin-binding guanine exchange factor" xsd:string property_value: alternative:term "Syx" xsd:string property_value: alternative:term "Tech" xsd:string property_value: symbol "PLEKHG5" xsd:string [Term] id: Orphanet:167892 name: cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) xref: ENSEMBL:ENSG00000126267 xref: GENATLAS:COX6B1 xref: HGNC:2280 xref: OMIM:124089 xref: REACTOME:P14854 xref: UNIPROTKB/SWISSPROT:P14854 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:254905 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated cytochrome C oxidase deficiency relationship: Orphanet:317343 Orphanet:70474 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with cardiomyopathy property_value: alternative:term "COX6B" xsd:string property_value: alternative:term "COXG" xsd:string property_value: alternative:term "cytochrome c oxidase subunit Vib" xsd:string property_value: alternative:term "cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous)" xsd:string property_value: symbol "COX6B1" xsd:string [Term] id: Orphanet:167897 name: syntaxin 16 xref: ENSEMBL:ENSG00000124222 xref: GENATLAS:STX16 xref: HGNC:11431 xref: OMIM:603666 xref: REACTOME:O14662 xref: UNIPROTKB/SWISSPROT:O14662 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:94089 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pseudohypoparathyroidism type 1B property_value: alternative:term "hsyn16" xsd:string property_value: alternative:term "SYN16" xsd:string property_value: symbol "STX16" xsd:string [Term] id: Orphanet:1679 name: Diphtheria xref: ICD10:A36.0 xref: ICD10:A36.1 xref: ICD10:A36.2 xref: ICD10:A36.3 xref: ICD10:A36.8 xref: ICD10:A36.9 xref: MEDDRA:10013023 xref: MESH:D004165 xref: SNOMED CT:397428000 xref: UMLS:C0012546 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease [Term] id: Orphanet:167901 name: mitochondrially encoded tRNA serine 1 (UCN) xref: ENSEMBL:ENSG00000210151 xref: GENATLAS:MT-TS1 xref: HGNC:7497 xref: OMIM:590080 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:168609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure relationship: Orphanet:317343 Orphanet:2202 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Palmoplantar keratoderma-deafness syndrome relationship: Orphanet:317343 Orphanet:550 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MELAS syndrome relationship: Orphanet:317343 Orphanet:551 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MERRF syndrome relationship: Orphanet:317343 Orphanet:663 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited progressive external ophthalmoplegia relationship: Orphanet:317343 Orphanet:90641 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial nonsyndromic sensorineural deafness property_value: alternative:term "MTTS1" xsd:string property_value: alternative:term "tRNA serine 1 (UCN)" xsd:string property_value: alternative:term "TRNS1" xsd:string property_value: symbol "MT-TS1" xsd:string [Term] id: Orphanet:167905 name: mitochondrially encoded tRNA serine 2 (AGU/C) xref: ENSEMBL:ENSG00000210184 xref: GENATLAS:MT-TS2 xref: HGNC:7498 xref: OMIM:590085 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231183 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Usher syndrome type 3 relationship: Orphanet:317343 Orphanet:550 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MELAS syndrome relationship: Orphanet:317343 Orphanet:551 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MERRF syndrome property_value: alternative:term "MTTS2" xsd:string property_value: alternative:term "RP8" xsd:string property_value: alternative:term "tRNA serine 2 (AGU/C)" xsd:string property_value: alternative:term "TRNS2" xsd:string property_value: symbol "MT-TS2" xsd:string [Term] id: Orphanet:167909 name: mitochondrially encoded tRNA phenylalanine xref: ENSEMBL:ENSG00000210049 xref: GENATLAS:MT-TF xref: HGNC:7481 xref: OMIM:590070 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:550 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MELAS syndrome relationship: Orphanet:317343 Orphanet:551 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MERRF syndrome property_value: alternative:term "MTTF" xsd:string property_value: alternative:term "tRNA phenylalanine" xsd:string property_value: alternative:term "trnF" xsd:string property_value: symbol "MT-TF" xsd:string [Term] id: Orphanet:168 name: Loose anagen syndrome xref: ICD10:L65.1 xref: MESH:D058247 xref: OMIM:600628 xref: SNOMED CT:238735005 xref: UMLS:C0406468 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79364 ! Alopecia property_value: alternative:term "Coloboma - hair abnormality" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma." xsd:string [Term] id: Orphanet:1680 name: Spastic diplegia, infantile type xref: ICD10:G83.8 xref: MESH:C537481 xref: OMIM:270600 xref: UMLS:C1849139 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98006 ! Rare neurologic disease property_value: alternative:term "Little syndrome" xsd:string [Term] id: Orphanet:168069 name: DnaJ (Hsp40) homolog, subfamily C, member 19 xref: ENSEMBL:ENSG00000205981 xref: GENATLAS:DNAJC19 xref: HGNC:30528 xref: OMIM:608977 xref: REACTOME:Q96DA6 xref: UNIPROTKB/SWISSPROT:Q96DA6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:66634 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dilated cardiomyopathy with ataxia property_value: alternative:term "Pam18" xsd:string property_value: alternative:term "Tim14" xsd:string property_value: alternative:term "TIMM14" xsd:string property_value: symbol "DNAJC19" xsd:string [Term] id: Orphanet:168073 name: granulin xref: ENSEMBL:ENSG00000030582 xref: GENATLAS:GRN xref: HGNC:4601 xref: OMIM:138945 xref: UNIPROTKB/SWISSPROT:P28799 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314629 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CLN11 disease relationship: Orphanet:317345 Orphanet:100069 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Semantic dementia relationship: Orphanet:317345 Orphanet:100070 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Progressive non-fluent aphasia relationship: Orphanet:317345 Orphanet:275864 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Behavioral variant of frontotemporal dementia property_value: alternative:term "CLN11" xsd:string property_value: alternative:term "PCDGF" xsd:string property_value: alternative:term "PGRN" xsd:string property_value: alternative:term "progranulin" xsd:string property_value: symbol "GRN" xsd:string [Term] id: Orphanet:168077 name: hydroxyprostaglandin dehydrogenase 15-(NAD) xref: ENSEMBL:ENSG00000164120 xref: GENATLAS:HPGD xref: HGNC:5154 xref: OMIM:601688 xref: REACTOME:P15428 xref: UNIPROTKB/SWISSPROT:P15428 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1525 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cranio-osteoarthropathy relationship: Orphanet:317343 Orphanet:217059 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated congenital digital clubbing relationship: Orphanet:317343 Orphanet:2796 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pachydermoperiostosis property_value: alternative:term "SDR36C1" xsd:string property_value: alternative:term "short chain dehydrogenase/reductase family 36C, member 1" xsd:string property_value: symbol "HPGD" xsd:string [Term] id: Orphanet:168079 name: solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1 xref: ENSEMBL:ENSG00000116704 xref: GENATLAS:SLC35D1 xref: HGNC:20800 xref: OMIM:610804 xref: REACTOME:Q9NTN3 xref: UNIPROTKB/SWISSPROT:Q9NTN3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3144 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Schneckenbecken dysplasia property_value: alternative:term "KIAA0260" xsd:string property_value: alternative:term "Solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1" xsd:string property_value: alternative:term "UGTREL7" xsd:string property_value: symbol "SLC35D1" xsd:string [Term] id: Orphanet:168083 name: glutamate-ammonia ligase xref: ENSEMBL:ENSG00000135821 xref: GENATLAS:GLUL xref: HGNC:4341 xref: OMIM:138290 xref: REACTOME:P15104 xref: UNIPROTKB/SWISSPROT:P15104 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:71278 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital brain dysgenesis due to glutamine synthetase deficiency property_value: alternative:term "GLNS" xsd:string property_value: alternative:term "glutamate-ammonia ligase (glutamine synthase)" xsd:string property_value: alternative:term "Glutamate-ammonia ligase (glutamine synthetase)" xsd:string property_value: alternative:term "glutamine synthetase" xsd:string property_value: symbol "GLUL" xsd:string [Term] id: Orphanet:168086 name: potassium voltage-gated channel, shaker-related subfamily, member 5 xref: ENSEMBL:ENSG00000130037 xref: GENATLAS:KCNA5 xref: HGNC:6224 xref: IUPHAR:542 xref: OMIM:176267 xref: REACTOME:P22460 xref: UNIPROTKB/SWISSPROT:P22460 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial atrial fibrillation property_value: alternative:term "HK2" xsd:string property_value: alternative:term "HPCN1" xsd:string property_value: alternative:term "Kv1.5" xsd:string property_value: symbol "KCNA5" xsd:string [Term] id: Orphanet:168091 name: melanocortin 4 receptor xref: ENSEMBL:ENSG00000166603 xref: GENATLAS:MC4R xref: HGNC:6932 xref: IUPHAR:285 xref: OMIM:155541 xref: REACTOME:P32245 xref: UNIPROTKB/SWISSPROT:P32245 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:71529 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Obesity due to melanocortin 4 receptor deficiency property_value: symbol "MC4R" xsd:string [Term] id: Orphanet:168093 name: iron-sulfur cluster assembly enzyme xref: ENSEMBL:ENSG00000136003 xref: GENATLAS:ISCU xref: HGNC:29882 xref: OMIM:611911 xref: REACTOME:Q9H1K1 xref: UNIPROTKB/SWISSPROT:Q9H1K1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:43115 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary myopathy with lactic acidosis due to ISCU deficiency property_value: alternative:term "hnifU" xsd:string property_value: alternative:term "Iron-sulfur cluster scaffold homolog (E. coli)" xsd:string property_value: alternative:term "IscU" xsd:string property_value: alternative:term "IscU iron-sulfur cluster scaffold homolog (E. coli)" xsd:string property_value: alternative:term "ISU2" xsd:string property_value: alternative:term "NifU-like N-terminal domain containing" xsd:string property_value: alternative:term "NIFUN" xsd:string property_value: symbol "ISCU" xsd:string [Term] id: Orphanet:168099 name: kynureninase xref: ENSEMBL:ENSG00000115919 xref: GENATLAS:KYNU xref: HGNC:6469 xref: OMIM:605197 xref: REACTOME:Q16719 xref: UNIPROTKB/SWISSPROT:Q16719 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79155 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Encephalopathy due to hydroxykynureninuria property_value: alternative:term "Kynureninase (L-kynurenine hydrolase)" xsd:string property_value: alternative:term "L-kynurenine hydrolase" xsd:string property_value: symbol "KYNU" xsd:string [Term] id: Orphanet:168101 name: ribonucleotide reductase M2 B (TP53 inducible) xref: ENSEMBL:ENSG00000048392 xref: GENATLAS:RRM2B xref: HGNC:17296 xref: OMIM:604712 xref: REACTOME:Q7LG56 xref: UNIPROTKB/SWISSPROT:Q7LG56 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:254892 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant progressive external ophthalmoplegia relationship: Orphanet:317343 Orphanet:255235 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy relationship: Orphanet:317343 Orphanet:298 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial neurogastrointestinal encephalomyopathy relationship: Orphanet:317343 Orphanet:329336 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy relationship: Orphanet:317343 Orphanet:480 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kearns-Sayre syndrome property_value: alternative:term "p53R2" xsd:string property_value: symbol "RRM2B" xsd:string [Term] id: Orphanet:168122 name: solute carrier family 16 (monocarboxylate transporter), member 1 xref: ENSEMBL:ENSG00000155380 xref: GENATLAS:SLC16A1 xref: HGNC:10922 xref: OMIM:600682 xref: REACTOME:P53985 xref: UNIPROTKB/SWISSPROT:P53985 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:165991 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Exercise-induced hyperinsulinism relationship: Orphanet:317343 Orphanet:171690 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Metabolic myopathy due to lactate transporter defect property_value: alternative:term "MCT" xsd:string property_value: alternative:term "MCT1" xsd:string property_value: alternative:term "solute carrier family 16 (monocarboxylic acid transporters), member 1" xsd:string property_value: alternative:term "Solute carrier family 16, member 1 (monocarboxylic acid transporter 1)" xsd:string property_value: symbol "SLC16A1" xsd:string [Term] id: Orphanet:168155 name: tetraspanin 7 xref: ENSEMBL:ENSG00000156298 xref: GENATLAS:TSPAN7 xref: HGNC:11854 xref: OMIM:300096 xref: UNIPROTKB/SWISSPROT:P41732 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit property_value: alternative:term "A15" xsd:string property_value: alternative:term "CD231" xsd:string property_value: alternative:term "DXS1692E" xsd:string property_value: alternative:term "mental retardation, X-linked 58" xsd:string property_value: alternative:term "MRX58" xsd:string property_value: alternative:term "MXS1" xsd:string property_value: alternative:term "TALLA-1" xsd:string property_value: alternative:term "TM4SF2" xsd:string property_value: alternative:term "transmembrane 4 superfamily member 2" xsd:string property_value: symbol "TSPAN7" xsd:string [Term] id: Orphanet:168165 name: left-right determination factor 2 xref: ENSEMBL:ENSG00000143768 xref: GENATLAS:LEFTY2 xref: HGNC:3122 xref: OMIM:601877 xref: REACTOME:O00292 xref: UNIPROTKB/SWISSPROT:O00292 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:157769 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Situs ambiguus property_value: alternative:term "EBAF" xsd:string property_value: alternative:term "endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)" xsd:string property_value: alternative:term "LEFTA" xsd:string property_value: alternative:term "LEFTYA" xsd:string property_value: alternative:term "TGFB4" xsd:string property_value: alternative:term "transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)" xsd:string property_value: symbol "LEFTY2" xsd:string [Term] id: Orphanet:168172 name: adenylate cyclase 10 (soluble) xref: ENSEMBL:ENSG00000143199 xref: GENATLAS:ADCY10 xref: HGNC:21285 xref: OMIM:605205 xref: UNIPROTKB/SWISSPROT:Q96PN6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2197 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic hypercalciuria property_value: alternative:term "HCA2" xsd:string property_value: alternative:term "Hypercalciuria, absorptive, 2" xsd:string property_value: alternative:term "RP1-313L4.2" xsd:string property_value: alternative:term "SAC" xsd:string property_value: alternative:term "SACI" xsd:string property_value: alternative:term "Sacy" xsd:string property_value: alternative:term "soluble adenylyl cyclase" xsd:string property_value: symbol "ADCY10" xsd:string [Term] id: Orphanet:168179 name: dual oxidase maturation factor 2 xref: ENSEMBL:ENSG00000140274 xref: GENATLAS:DUOXA2 xref: HGNC:32698 xref: OMIM:612772 xref: UNIPROTKB/SWISSPROT:Q1HG44 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:95716 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial thyroid dyshormonogenesis property_value: symbol "DUOXA2" xsd:string [Term] id: Orphanet:168194 name: Rare cardiac tumor is_a: Orphanet:97929 ! Rare cardiac disease is_a: Orphanet:98057 ! Rare tumor [Term] id: Orphanet:1682 name: Arterial dissection - lentiginosis xref: ICD10:Q87.8 xref: OMIM:600459 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68362 ! Rare vascular disease [Term] id: Orphanet:168268 name: TSEN54 tRNA splicing endonuclease subunit xref: ENSEMBL:ENSG00000182173 xref: GENATLAS:TSEN54 xref: HGNC:27561 xref: OMIM:608755 xref: UNIPROTKB/SWISSPROT:Q7Z6J9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:166063 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pontocerebellar hypoplasia type 4 relationship: Orphanet:317343 Orphanet:166068 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pontocerebellar hypoplasia type 5 relationship: Orphanet:317343 Orphanet:2254 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pontocerebellar hypoplasia type 1 relationship: Orphanet:317343 Orphanet:2524 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pontocerebellar hypoplasia type 2 property_value: alternative:term "SEN54" xsd:string property_value: alternative:term "SEN54L" xsd:string property_value: alternative:term "tRNA splicing endonuclease 54 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)" xsd:string property_value: symbol "TSEN54" xsd:string [Term] id: Orphanet:168272 name: FAST kinase domains 2 xref: ENSEMBL:ENSG00000118246 xref: GENATLAS:FASTKD2 xref: HGNC:29160 xref: OMIM:612322 xref: UNIPROTKB/SWISSPROT:Q9NYY8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:166105 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! FASTKD2-related infantile mitochondrial encephalomyopathy relationship: Orphanet:317343 Orphanet:254905 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated cytochrome C oxidase deficiency property_value: alternative:term "KIAA0971" xsd:string property_value: symbol "FASTKD2" xsd:string [Term] id: Orphanet:168309 name: GLIS family zinc finger 2 xref: ENSEMBL:ENSG00000126603 xref: GENATLAS:GLIS2 xref: HGNC:29450 xref: OMIM:608539 xref: UNIPROTKB/SWISSPROT:Q9BZE0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93592 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juvenile autosomal recessive medullary cystic kidney disease relationship: Orphanet:317348 Orphanet:329469 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute megakaryoblastic leukemia without Down syndrome property_value: alternative:term "nephrocystin-7" xsd:string property_value: alternative:term "NPHP7" xsd:string property_value: symbol "GLIS2" xsd:string [Term] id: Orphanet:168312 name: nuclear receptor subfamily 5, group A, member 1 xref: ENSEMBL:ENSG00000136931 xref: GENATLAS:NR5A1 xref: HGNC:7983 xref: IUPHAR:632 xref: OMIM:184757 xref: REACTOME:Q13285 xref: UNIPROTKB/SWISSPROT:Q13285 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:242 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XY complete gonadal dysgenesis relationship: Orphanet:317343 Orphanet:243 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XX gonadal dysgenesis relationship: Orphanet:317343 Orphanet:251510 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XY partial gonadal dysgenesis property_value: alternative:term "AD4BP" xsd:string property_value: alternative:term "ELP" xsd:string property_value: alternative:term "FTZ1" xsd:string property_value: alternative:term "FTZF1" xsd:string property_value: alternative:term "SF-1" xsd:string property_value: symbol "NR5A1" xsd:string [Term] id: Orphanet:168319 name: jerky homolog (mouse) xref: ENSEMBL:ENSG00000234616 xref: GENATLAS:JRK xref: HGNC:6199 xref: OMIM:603210 xref: UNIPROTKB/SWISSPROT:O75564 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:64280 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Childhood absence epilepsy relationship: Orphanet:327767 Orphanet:307 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Juvenile myoclonic epilepsy property_value: alternative:term "jerky (mouse) homolog" xsd:string property_value: alternative:term "JH8" xsd:string property_value: symbol "JRK" xsd:string [Term] id: Orphanet:168322 name: Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 xref: ENSEMBL:ENSG00000129675 xref: GENATLAS:ARHGEF6 xref: HGNC:685 xref: OMIM:300267 xref: REACTOME:Q15052 xref: UNIPROTKB/SWISSPROT:Q15052 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit property_value: alternative:term "alpha-PIX" xsd:string property_value: alternative:term "alphaPIX" xsd:string property_value: alternative:term "Cool-2" xsd:string property_value: alternative:term "Cool2" xsd:string property_value: alternative:term "KIAA0006" xsd:string property_value: alternative:term "mental retardation, X-linked 46" xsd:string property_value: alternative:term "MRX46" xsd:string property_value: alternative:term "PAK-interacting exchange factor, alpha" xsd:string property_value: alternative:term "Rac/Cdc42 guanine exchange factor (GEF) 6" xsd:string property_value: alternative:term "rho guanine nucleotide exchange factor 6" xsd:string property_value: symbol "ARHGEF6" xsd:string [Term] id: Orphanet:168335 name: zinc finger protein 81 xref: ENSEMBL:ENSG00000197779 xref: GENATLAS:ZNF81 xref: HGNC:13156 xref: OMIM:314998 xref: UNIPROTKB/SWISSPROT:P51508 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit property_value: alternative:term "HFZ20" xsd:string property_value: alternative:term "mental retardation, X-linked 45" xsd:string property_value: alternative:term "MRX45" xsd:string property_value: alternative:term "zinc finger protein 81 (HFZ20)" xsd:string property_value: symbol "ZNF81" xsd:string [Term] id: Orphanet:168339 name: protocadherin 19 xref: ENSEMBL:ENSG00000165194 xref: GENATLAS:PCDH19 xref: HGNC:14270 xref: OMIM:300460 xref: UNIPROTKB/SWISSPROT:Q8TAB3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101039 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Female restricted epilepsy with intellectual deficit relationship: Orphanet:327767 Orphanet:33069 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Dravet syndrome property_value: alternative:term "EFMR" xsd:string property_value: alternative:term "EIEE9" xsd:string property_value: alternative:term "epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)" xsd:string property_value: alternative:term "KIAA1313" xsd:string property_value: symbol "PCDH19" xsd:string [Term] id: Orphanet:168342 name: ribosomal protein S14 xref: ENSEMBL:ENSG00000164587 xref: GENATLAS:RPS14 xref: HGNC:10387 xref: OMIM:130620 xref: REACTOME:P62263 xref: UNIPROTKB/SWISSPROT:P62263 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:86841 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality property_value: alternative:term "40S ribosomal protein S14" xsd:string property_value: alternative:term "emetine resistance" xsd:string property_value: alternative:term "EMTB" xsd:string property_value: alternative:term "S14" xsd:string property_value: symbol "RPS14" xsd:string [Term] id: Orphanet:168345 name: insulin xref: ENSEMBL:ENSG00000254647 xref: GENATLAS:INS xref: HGNC:6081 xref: OMIM:176730 xref: REACTOME:P01308 xref: UNIPROTKB/SWISSPROT:P01308 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:552 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MODY syndrome relationship: Orphanet:317343 Orphanet:99885 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Permanent neonatal diabetes mellitus property_value: symbol "INS" xsd:string [Term] id: Orphanet:168347 name: thyroglobulin xref: ENSEMBL:ENSG00000042832 xref: GENATLAS:TG xref: HGNC:11764 xref: OMIM:188450 xref: UNIPROTKB/SWISSPROT:P01266 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:95716 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial thyroid dyshormonogenesis property_value: alternative:term "AITD3" xsd:string property_value: alternative:term "TGN" xsd:string property_value: symbol "TG" xsd:string [Term] id: Orphanet:168351 name: RNA binding motif protein, Y-linked, family 1, member A1 xref: ENSEMBL:ENSG00000234414 xref: GENATLAS:RBMY1A1 xref: HGNC:9912 xref: OMIM:400006 xref: UNIPROTKB/SWISSPROT:P0DJD3 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:1646 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Partial chromosome Y deletion property_value: alternative:term "RBM1" xsd:string property_value: alternative:term "RBM2" xsd:string property_value: alternative:term "RNA binding motif protein, Y chromosome, family 1, member A1" xsd:string property_value: alternative:term "YRRM1" xsd:string property_value: alternative:term "YRRM2" xsd:string property_value: symbol "RBMY1A1" xsd:string [Term] id: Orphanet:168360 name: lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) xref: ENSEMBL:ENSG00000121207 xref: GENATLAS:LRAT xref: HGNC:6685 xref: OMIM:604863 xref: REACTOME:O95237 xref: UNIPROTKB/SWISSPROT:O95237 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:364055 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe early-childhood-onset retinal dystrophy relationship: Orphanet:317343 Orphanet:65 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber congenital amaurosis relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: symbol "LRAT" xsd:string [Term] id: Orphanet:168362 name: doublesex and mab-3 related transcription factor 1 xref: ENSEMBL:ENSG00000137090 xref: GENATLAS:DMRT1 xref: HGNC:2934 xref: OMIM:602424 xref: UNIPROTKB/SWISSPROT:Q9Y5R6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:242 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XY complete gonadal dysgenesis property_value: alternative:term "CT154" xsd:string property_value: alternative:term "DM domain expressed in testis 1" xsd:string property_value: alternative:term "DMT1" xsd:string property_value: symbol "DMRT1" xsd:string [Term] id: Orphanet:168365 name: doublesex and mab-3 related transcription factor 2 xref: ENSEMBL:ENSG00000173253 xref: GENATLAS:DMRT2 xref: HGNC:2935 xref: OMIM:604935 xref: UNIPROTKB/SWISSPROT:Q9Y5R5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:242 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XY complete gonadal dysgenesis property_value: alternative:term "terra-like protein" xsd:string property_value: symbol "DMRT2" xsd:string [Term] id: Orphanet:168409 name: platelet-derived growth factor beta polypeptide xref: ENSEMBL:ENSG00000100311 xref: GENATLAS:PDGFB xref: HGNC:8800 xref: OMIM:190040 xref: REACTOME:P01127 xref: UNIPROTKB/SWISSPROT:P01127 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1980 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bilateral striopallidodentate calcinosis relationship: Orphanet:317343 Orphanet:263662 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial multiple meningioma relationship: Orphanet:317348 Orphanet:31112 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dermatofibrosarcoma protuberans property_value: alternative:term "becaplermin" xsd:string property_value: alternative:term "oncogene SIS" xsd:string property_value: alternative:term "Platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)" xsd:string property_value: alternative:term "SIS" xsd:string property_value: alternative:term "SSV" xsd:string property_value: symbol "PDGFB" xsd:string [Term] id: Orphanet:168413 name: alveolar soft part sarcoma chromosome region, candidate 1 xref: ENSEMBL:ENSG00000169696 xref: GENATLAS:ASPSCR1 xref: HGNC:13825 xref: OMIM:606236 xref: REACTOME:Q9BZE9 xref: UNIPROTKB/SWISSPROT:Q9BZE9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:163699 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alveolar soft-part sarcoma relationship: Orphanet:317348 Orphanet:319308 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Translocation renal cell carcinoma property_value: alternative:term "ASPL" xsd:string property_value: alternative:term "ASPS" xsd:string property_value: alternative:term "UBX domain protein 9" xsd:string property_value: alternative:term "UBXD9" xsd:string property_value: alternative:term "UBXN9" xsd:string property_value: symbol "ASPSCR1" xsd:string [Term] id: Orphanet:168443 name: Spondyloepimetaphyseal dysplasia - hypotrichosis xref: ICD10:Q77.7 xref: MESH:C535783 xref: OMIM:183849 xref: UMLS:C1866728 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia [Term] id: Orphanet:168448 name: Spondyloepimetaphyseal dysplasia, Bieganski type xref: ICD10:Q77.7 xref: OMIM:300232 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia [Term] id: Orphanet:168451 name: Spondyloepimetaphyseal dysplasia - abnormal dentition xref: ICD10:Q77.7 xref: OMIM:601668 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia [Term] id: Orphanet:168454 name: Spondyloepimetaphyseal dysplasia, Geneviève type xref: ICD10:Q77.7 xref: MESH:C535785 xref: OMIM:610442 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia [Term] id: Orphanet:168486 name: Congenital neuronal ceroid lipofuscinosis xref: ICD10:E75.4 xref: OMIM:610127 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:216 ! Neuronal ceroid lipofuscinosis relationship: part_of Orphanet:98261 ! Progressive myoclonic epilepsy property_value: alternative:term "Congenital NCL" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy." xsd:string [Term] id: Orphanet:168491 name: Late infantile neuronal ceroid lipofuscinosis xref: ICD10:E75.4 xref: OMIM:204500 xref: OMIM:256730 xref: OMIM:256731 xref: OMIM:600143 xref: OMIM:601780 xref: OMIM:610127 xref: OMIM:610951 xref: SNOMED CT:14637005 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:216 ! Neuronal ceroid lipofuscinosis relationship: part_of Orphanet:98261 ! Progressive myoclonic epilepsy property_value: alternative:term "Jansky-Bielschowsky disease" xsd:string property_value: alternative:term "Late infantile NCL" xsd:string property_value: alternative:term "LINCL" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration." xsd:string [Term] id: Orphanet:1685 name: Distomatosis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163588 ! Rare parasitic disease property_value: alternative:term "Distomiasis" xsd:string [Term] id: Orphanet:168544 name: Spondylometaphyseal dysplasia, Golden type xref: ICD10:Q77.8 xref: OMIM:313420 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254 ! Spondylometaphyseal dysplasia property_value: alternative:term "X-linked spondylometaphyseal dysplasia" xsd:string [Term] id: Orphanet:168549 name: Axial spondylometaphyseal dysplasia xref: ICD10:Q77.8 xref: MESH:C535795 xref: OMIM:602271 xref: UMLS:C1865695 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254 ! Spondylometaphyseal dysplasia [Term] id: Orphanet:168552 name: Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism xref: ICD10:Q77.8 xref: MESH:C535791 xref: OMIM:607543 xref: UMLS:C1843706 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254 ! Spondylometaphyseal dysplasia [Term] id: Orphanet:168555 name: Spondylometaphyseal dysplasia, A4 type xref: ICD10:Q77.8 xref: OMIM:609052 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254 ! Spondylometaphyseal dysplasia [Term] id: Orphanet:168558 name: 46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency xref: ICD10:Q56.1 xref: OMIM:613743 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101960 ! Genetic chronic primary adrenal insufficiency relationship: part_of Orphanet:90786 ! 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect property_value: alternative:term "XY sex reversal - adrenal failure" xsd:string [Term] id: Orphanet:168563 name: 46,XY gonadal dysgenesis - motor and sensory neuropathy xref: ICD10:Q56.1 xref: OMIM:607080 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:325638 ! Syndrome with disorder of sex development of gynecological interest relationship: part_of Orphanet:98087 ! Syndrome with 46,XY disorder of sex development [Term] id: Orphanet:168566 name: Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 xref: ICD10:E88.8 xref: OMIM:610505 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy." xsd:string [Term] id: Orphanet:168569 name: H syndrome xref: ICD10:D76.3 xref: OMIM:602782 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus." xsd:string [Term] id: Orphanet:168572 name: Native American myopathy xref: ICD10:G71.2 xref: MESH:C538343 xref: OMIM:255995 xref: UMLS:C1850625 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:97245 ! Congenital myopathy property_value: alternative:term "Congenital myopathy - cleft palate - malignant hyperthermia" xsd:string [Term] id: Orphanet:168577 name: Hereditary cryohydrocytosis with reduced stomatin xref: ICD10:D58.8 xref: OMIM:608885 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:98365 ! Stomatocytosis property_value: alternative:term "CHC type 2" xsd:string property_value: alternative:term "Hereditary cryohydrocytosis type 2" xsd:string property_value: alternative:term "sdCHC" xsd:string property_value: alternative:term "Stomatin-deficient cryohydrocytosis" xsd:string [Term] id: Orphanet:168583 name: Hereditary North American Indian childhood cirrhosis xref: ICD10:K74.6 xref: OMIM:604901 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101939 ! Rare parenchymatous liver disease relationship: part_of Orphanet:156604 ! Genetic parenchymatous liver disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence." xsd:string [Term] id: Orphanet:168588 name: Hyperandrogenism due to cortisone reductase deficiency xref: ICD10:E25.8 xref: OMIM:604931 xref: OMIM:614662 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:180208 ! Anomaly of puberty or/and menstrual cycle relationship: part_of Orphanet:181412 ! Adrenogenital syndrome relationship: part_of Orphanet:202940 ! Anomaly of puberty or/and menstrual cycle of genetic origin property_value: alternative:term "11-beta-hydroxysteroid dehydrogenase deficiency type 1" xsd:string [Term] id: Orphanet:168593 name: Sudden infant death - dysgenesis of the testes xref: ICD10:G90.8 xref: OMIM:608800 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101944 ! Rare pulmonary disease relationship: part_of Orphanet:156610 ! Rare genetic respiratory disease relationship: part_of Orphanet:98087 ! Syndrome with 46,XY disorder of sex development property_value: alternative:term "SIDDT" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes." xsd:string [Term] id: Orphanet:168598 name: Brain demyelination due to methionine adenosyltransferase deficiency xref: ICD10:E72.1 xref: OMIM:250850 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79173 ! Disorder of methionine cycle and sulfur amino acid metabolism property_value: alternative:term "MAT deficiency" xsd:string property_value: alternative:term "MAT I/III deficiency" xsd:string property_value: alternative:term "Methionine adenosyltransferase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination." xsd:string [Term] id: Orphanet:1686 name: Cardiac diverticulum xref: ICD10:Q24.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:88991 ! Congenital heart malformation [Term] id: Orphanet:168601 name: Congenital enteropathy due to enteropeptidase deficiency xref: ICD10:K90.8 xref: OMIM:226200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:104006 ! Congenital intestinal disease due to an enzymatic defect property_value: alternative:term "Congenital enterokinase deficiency" xsd:string [Term] id: Orphanet:168606 name: Seborrhea-like dermatitis with psoriasiform elements xref: OMIM:610227 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183426 ! Genetic epidermal disease relationship: part_of Orphanet:79359 ! Other epidermis disorder [Term] id: Orphanet:168609 name: Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure xref: OMIM:580000 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:216452 ! Postlingual nonsyndromic genetic deafness relationship: part_of Orphanet:254776 ! Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA property_value: alternative:term "Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure" xsd:string property_value: alternative:term "Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure" xsd:string property_value: alternative:term "Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure" xsd:string property_value: alternative:term "Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure" xsd:string property_value: alternative:term "Mitochondrial nonsyndromic neurosensory deafness with susceptibility to aminoglycoside exposure" xsd:string property_value: alternative:term "Mitochondrial nonsyndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure" xsd:string property_value: alternative:term "Mitochondrial nonsyndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure" xsd:string [Term] id: Orphanet:168612 name: Congenital deficiency in alpha-fetoprotein is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98053 ! Rare genetic disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate." xsd:string [Term] id: Orphanet:168615 name: Hereditary persistence of alpha-fetoprotein is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98053 ! Rare genetic disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy" xsd:string [Term] id: Orphanet:168621 name: Dysplasia of head of femur, Meyer type xref: ICD10:Q78.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93429 ! Multiple epiphyseal dysplasia and pseudoachondroplasia [Term] id: Orphanet:168624 name: Familial scaphocephaly syndrome, McGillivray type xref: ICD10:Q87.0 xref: OMIM:609579 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis property_value: alternative:term "Scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability." xsd:string [Term] id: Orphanet:168629 name: Autosomal thrombocytopenia with normal platelets xref: ICD10:D69.4 xref: OMIM:188000 xref: OMIM:273900 xref: OMIM:612004 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:268322 ! Hereditary thrombocytopenia with normal platelets [Term] id: Orphanet:168632 name: Generalized basaloid follicular hamartoma syndrome xref: ICD10:Q82.5 xref: OMIM:605827 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma [Term] id: Orphanet:168778 name: Rare pervasive developmental disorder xref: ICD10:F84 xref: MEDDRA:10061345 xref: MESH:D002659 xref: SNOMED CT:35919005 xref: UMLS:C0524528 is_a: Orphanet:71859 ! Rare genetic neurological disease is_a: Orphanet:98033 ! Rare neurologic disease with psychiatric involvement property_value: alternative:term "Rare autism spectrum disorder" xsd:string [Term] id: Orphanet:168782 name: Childhood disintegrative disorder xref: ICD10:F84.3 xref: MEDDRA:10008522 xref: SNOMED CT:71961003 xref: UMLS:C0236791 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:168778 ! Rare pervasive developmental disorder property_value: alternative:term "Dementia Infantilis" xsd:string property_value: alternative:term "Heller syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviours and dementia." xsd:string [Term] id: Orphanet:168796 name: Heart-hand syndrome, Slovenian type xref: ICD10:Q87.2 xref: MESH:C535852 xref: OMIM:610140 xref: UMLS:C1857829 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease relationship: part_of Orphanet:217619 ! Syndrome associated with dilated cardiomyopathy relationship: part_of Orphanet:228184 ! Heart-hand syndrome property_value: alternative:term "Atrio-digital dysplasia, Slovenian type" xsd:string property_value: alternative:term "Cardiac conduction disease - dilated cardiomyopathy - brachydactyly" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases." xsd:string [Term] id: Orphanet:168803 name: Primary peritoneal tumor is_a: Orphanet:165711 ! Rare abdominal surgical disease is_a: Orphanet:98057 ! Rare tumor [Term] id: Orphanet:168807 name: Primary malignant peritoneal tumor xref: ICD10:C45.1 xref: ICD10:C48 is_a: Orphanet:168803 ! Primary peritoneal tumor [Term] id: Orphanet:168811 name: Malignant peritoneal mesothelioma xref: ICD10:C45.1 xref: MEDDRA:10056558 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:168807 ! Primary malignant peritoneal tumor property_value: alternative:term "Diffuse malignant peritoneal mesothelioma" xsd:string property_value: alternative:term "Primary malignant peritoneal mesothelioma" xsd:string [Term] id: Orphanet:168816 name: Peritoneal cystic mesothelioma xref: ICD10:C45.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:168807 ! Primary malignant peritoneal tumor property_value: alternative:term "Benign multicystic peritoneal mesothelioma" xsd:string property_value: alternative:term "Multicystic mesothelioma" xsd:string property_value: alternative:term "Multilocular peritoneal inclusion cyst" xsd:string [Term] id: Orphanet:168829 name: Primary peritoneal carcinoma xref: ICD10:C48.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:168807 ! Primary malignant peritoneal tumor property_value: alternative:term "EOPPC" xsd:string property_value: alternative:term "Extra-ovarian primary peritoneal carcinoma" xsd:string property_value: alternative:term "PPC" xsd:string property_value: alternative:term "Primary peritoneal serous carcinoma" xsd:string property_value: alternative:term "Serous surface papillary carcinoma" xsd:string [Term] id: Orphanet:168940 name: Chronic eosinophilic leukemia xref: ICD10:D47.5 xref: MEDDRA:10065854 xref: SNOMED CT:188733003 xref: SNOMED CT:413836008 xref: UMLS:C0346421 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98274 ! Myeloproliferative neoplasm [Term] id: Orphanet:168943 name: Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1 is_a: Orphanet:171895 ! Myeloid hemopathy [Term] id: Orphanet:168947 name: Myeloid neoplasm associated with PDGFRA rearrangement is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:168943 ! Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1 [Term] id: Orphanet:168950 name: Myeloid neoplasm associated with PDGFRB rearrangement is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:168943 ! Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1 [Term] id: Orphanet:168953 name: Myeloid neoplasm associated with FGFR1 rearrangement xref: OMIM:613523 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:168943 ! Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1 property_value: alternative:term "8p11 myeloproliferative syndrome" xsd:string property_value: alternative:term "Stem cell leukemia/lymphoma" xsd:string [Term] id: Orphanet:168956 name: Hypereosinophilic syndrome xref: ICD10:D47.5 xref: MEDDRA:10048643 xref: MESH:D017681 xref: SNOMED CT:128835008 xref: UMLS:C1540912 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:217720 ! Non-familial restrictive cardiomyopathy relationship: part_of Orphanet:98274 ! Myeloproliferative neoplasm [Term] id: Orphanet:168960 name: Refractory anemia with excess blasts in transformation xref: ICD10:D46.3 xref: SNOMED CT:110000005 xref: SNOMED CT:128848007 xref: UMLS:C0280028 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:52688 ! Myelodysplastic syndromes property_value: alternative:term "RAEB-t" xsd:string [Term] id: Orphanet:168966 name: Composite lymphoma xref: MESH:D058617 xref: SNOMED CT:128798004 xref: UMLS:C0545080 xref: UMLS:C1266191 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:223735 ! Lymphoma property_value: alternative:term "Composite Hodgkin and non-Hodgkin lymphoma" xsd:string [Term] id: Orphanet:168972 name: Kahrizi syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_324737 with label: SRD5A3-CDG" xsd:string [Term] id: Orphanet:168984 name: CLAPO syndrome xref: ICD10:Q87.3 xref: OMIM:613089 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:211247 ! Capillary malformation relationship: part_of Orphanet:2415 ! Lymphatic malformation relationship: part_of Orphanet:93460 ! Overgrowth syndrome property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O)." xsd:string [Term] id: Orphanet:168999 name: Malignant melanoma of the mucosa is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma [Term] id: Orphanet:169 name: Ringed hair disease xref: ICD10:Q84.1 xref: MESH:C537187 xref: OMIM:180600 xref: SNOMED CT:21926007 xref: UMLS:C0263489 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79366 ! Isolated hair shaft abnormality property_value: alternative:term "Pili annulati" xsd:string [Term] id: Orphanet:169079 name: Cernunnos-XLF deficiency xref: ICD10:D81.1 xref: OMIM:611291 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer property_value: alternative:term "Cernunnos deficiency" xsd:string property_value: alternative:term "Cernunnos XLFD" xsd:string property_value: alternative:term "Combined immunodeficiency - microcephaly - growth retardation - sensitivity to ionizing radiation" xsd:string property_value: alternative:term "NHEJ1 deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia." xsd:string [Term] id: Orphanet:169082 name: Combined immunodeficiency due to CD3gamma deficiency xref: ICD10:D81.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency [Term] id: Orphanet:169085 name: Susceptibility to respiratory infections associated with CD8alpha chain mutation xref: ICD10:D84.8 xref: OMIM:608957 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency property_value: alternative:term "Familial CD8 deficiency" xsd:string [Term] id: Orphanet:169090 name: Combined immunodeficiency due to CRAC channel dysfunction xref: ICD10:D81.8 xref: OMIM:612782 xref: OMIM:612783 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency property_value: alternative:term "Immune dysfunction due to T-cell inactivation due to calcium entry defect" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " deficiency (see these terms)." xsd:string [Term] id: Orphanet:169095 name: Severe T-cell immunodeficiency - congenital alopecia - nail dystrophy xref: ICD10:D82.8 xref: OMIM:601705 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency property_value: alternative:term "Winged helix deficiency" xsd:string [Term] id: Orphanet:169100 name: Immunodeficiency due to CD25 deficiency xref: ICD10:D81.2 xref: OMIM:606367 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:169355 ! Immunodeficiency syndrome with autoimmunity property_value: alternative:term "Interleukin-2 receptor alpha chain deficiency" xsd:string [Term] id: Orphanet:169105 name: Good syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:310050 ! Acquired immunodeficiency property_value: alternative:term "Thymoma-immunodeficiency" xsd:string [Term] id: Orphanet:169110 name: Immunoglobulin heavy chain deficiency xref: ICD10:D80.8 xref: SNOMED CT:234539005 xref: UMLS:C0398692 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:331232 ! Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells [Term] id: Orphanet:169139 name: Transient hypogammaglobulinemia of infancy xref: ICD10:D80.7 xref: MEDDRA:10044388 xref: SNOMED CT:88714009 xref: UMLS:C0272238 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101977 ! Immunodeficiency predominantly affecting antibody production [Term] id: Orphanet:169142 name: Recurrent infection due to specific granule deficiency xref: ICD10:D71 xref: OMIM:245480 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:183681 ! Functional neutrophil defect property_value: alternative:term "Neutrophil-specific granule deficiency" xsd:string [Term] id: Orphanet:169147 name: Immunodeficiency due to an early component of complement deficiency xref: ICD10:D84.1 xref: OMIM:120790 xref: OMIM:216950 xref: OMIM:217000 xref: OMIM:613652 xref: OMIM:613783 xref: OMIM:614379 xref: OMIM:614380 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101992 ! Immunodeficiency due to a complement cascade protein anomaly property_value: alternative:term "Immunodeficiency due to a C1, C4, or C2 component complement deficiency" xsd:string [Term] id: Orphanet:169150 name: Immunodeficiency due to a late component of complements deficiency xref: ICD10:D84.1 xref: OMIM:609536 xref: OMIM:610102 xref: OMIM:612446 xref: OMIM:613789 xref: OMIM:613790 xref: OMIM:613825 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101992 ! Immunodeficiency due to a complement cascade protein anomaly property_value: alternative:term "Deficiency of complement of terminal pathway" xsd:string property_value: alternative:term "Immunodeficiency due to a C5 to C9 component complement deficiency" xsd:string [Term] id: Orphanet:169154 name: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency xref: ICD10:D81.2 xref: OMIM:608971 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:317416 ! T-B+ severe combined immunodeficiency property_value: alternative:term "T-B+ SCID due to IL-7Ralpha deficiency" xsd:string [Term] id: Orphanet:169157 name: T-B+ severe combined immunodeficiency due to CD45 deficiency xref: ICD10:D81.2 xref: OMIM:608971 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:317416 ! T-B+ severe combined immunodeficiency property_value: alternative:term "T-B+ SCID due to CD45 deficiency" xsd:string [Term] id: Orphanet:169160 name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta xref: ICD10:D81.2 xref: OMIM:608971 xref: OMIM:610163 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:317416 ! T-B+ severe combined immunodeficiency property_value: alternative:term "T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta" xsd:string [Term] id: Orphanet:169163 name: Familial scaphocephaly syndrome xref: ICD10:Q75.0 is_a: Orphanet:139393 ! Syndromic craniosynostosis [Term] id: Orphanet:169186 name: Autosomal recessive centronuclear myopathy xref: ICD10:G71.2 xref: OMIM:255200 xref: SNOMED CT:240081004 xref: UMLS:C0410204 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:209053 ! Qualitative or quantitative defects of titin relationship: part_of Orphanet:595 ! Centronuclear myopathy property_value: alternative:term "AR-CNM" xsd:string [Term] id: Orphanet:169189 name: Autosomal dominant centronuclear myopathy xref: ICD10:G71.2 xref: OMIM:160150 xref: OMIM:614408 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:595 ! Centronuclear myopathy property_value: alternative:term "AD-CNM" xsd:string [Term] id: Orphanet:1692 name: Mosaic trisomy 1 xref: ICD10:Q92.1 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98131 ! Total autosomal trisomy [Term] id: Orphanet:169346 name: DNA repair defect other than combined T-cell and B-cell immunodeficiencies is_a: Orphanet:331217 ! Other immunodeficiency syndrome due to defects in adaptive immunity [Term] id: Orphanet:169349 name: Immuno-osseous dysplasia xref: SNOMED CT:254067002 xref: UMLS:C0432218 is_a: Orphanet:331217 ! Other immunodeficiency syndrome due to defects in adaptive immunity [Term] id: Orphanet:169355 name: Immunodeficiency syndrome with autoimmunity is_a: Orphanet:169361 ! Immune dysregulation disease with immunodeficiency [Term] id: Orphanet:169361 name: Immune dysregulation disease with immunodeficiency is_a: Orphanet:179006 ! Primary immunodeficiency due to a defect in adaptive immunity [Term] id: Orphanet:169395 name: NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 xref: ENSEMBL:ENSG00000101247 xref: GENATLAS:C20ORF7 xref: HGNC:15899 xref: OMIM:612360 xref: UNIPROTKB/SWISSPROT:Q5TEU4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency property_value: alternative:term "C20ORF7" xsd:string property_value: alternative:term "Chromosome 20 open reading frame 7" xsd:string property_value: alternative:term "dJ842G6.1" xsd:string property_value: symbol "NDUFAF5" xsd:string [Term] id: Orphanet:169399 name: NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 xref: ENSEMBL:ENSG00000156170 xref: GENATLAS:NDUFAF6 xref: HGNC:28625 xref: OMIM:612392 xref: UNIPROTKB/SWISSPROT:Q330K2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:255241 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with leukodystrophy property_value: alternative:term "C8ORF38" xsd:string property_value: alternative:term "Chromosome 8 open reading frame 38" xsd:string property_value: alternative:term "MGC40214" xsd:string property_value: symbol "NDUFAF6" xsd:string [Term] id: Orphanet:169402 name: leucine rich transmembrane and O-methyltransferase domain containing xref: ENSEMBL:ENSG00000184154 xref: GENATLAS:COMT2 xref: HGNC:25033 xref: OMIM:612414 xref: UNIPROTKB/SWISSPROT:Q8WZ04 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "COMT2" xsd:string property_value: alternative:term "deafness, autosomal recessive 63" xsd:string property_value: alternative:term "DFNB63" xsd:string property_value: alternative:term "leucine rich repeat containing 51" xsd:string property_value: alternative:term "Leucine rich transmembrane and 0-methyltransferase domain containing" xsd:string property_value: alternative:term "LRRC51" xsd:string property_value: symbol "LRTOMT" xsd:string [Term] id: Orphanet:169405 name: TSEN34 tRNA splicing endonuclease subunit xref: ENSEMBL:ENSG00000170892 xref: GENATLAS:TSEN34 xref: HGNC:15506 xref: OMIM:608754 xref: UNIPROTKB/SWISSPROT:Q9BSV6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2524 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pontocerebellar hypoplasia type 2 property_value: alternative:term "LENG5" xsd:string property_value: alternative:term "leukocyte receptor cluster (LRC) member 5" xsd:string property_value: alternative:term "SEN34" xsd:string property_value: alternative:term "SEN34L" xsd:string property_value: alternative:term "tRNA splicing endonuclease 34 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)" xsd:string property_value: symbol "TSEN34" xsd:string [Term] id: Orphanet:169410 name: TSEN2 tRNA splicing endonuclease subunit xref: ENSEMBL:ENSG00000154743 xref: GENATLAS:TSEN2 xref: HGNC:28422 xref: OMIM:608753 xref: UNIPROTKB/SWISSPROT:Q8NCE0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2524 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pontocerebellar hypoplasia type 2 property_value: alternative:term "MGC2776" xsd:string property_value: alternative:term "SEN2" xsd:string property_value: alternative:term "SEN2L" xsd:string property_value: alternative:term "tRNA splicing endonuclease 2 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)" xsd:string property_value: symbol "TSEN2" xsd:string [Term] id: Orphanet:169415 name: transmembrane protein 70 xref: ENSEMBL:ENSG00000175606 xref: GENATLAS:TMEM70 xref: HGNC:26050 xref: OMIM:612418 xref: UNIPROTKB/SWISSPROT:Q9BUB7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1194 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency property_value: alternative:term "FLJ20533" xsd:string property_value: symbol "TMEM70" xsd:string [Term] id: Orphanet:169443 name: Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells xref: ICD10:D80.6 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101977 ! Immunodeficiency predominantly affecting antibody production [Term] id: Orphanet:169446 name: Autosomal recessive hyper-IgE syndrome xref: ICD10:D82.4 xref: OMIM:243700 xref: OMIM:611521 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:331223 ! Hyper-IgE syndrome property_value: alternative:term "AR-HIES" xsd:string property_value: alternative:term "Autosomal recessive HIES" xsd:string property_value: alternative:term "Hyperimmunoglobulin E syndrome type 2" xsd:string property_value: alternative:term "Non-skeletal hyper-IgE syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; see this term), but other features such as persistent cutaneous viral infections are unique to AR-HIES." xsd:string [Term] id: Orphanet:169464 name: Primary CD59 deficiency xref: ICD10:D84.1 xref: OMIM:612300 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98364 ! Rare constitutional hemolytic anemia due to a red cell membrane anomaly relationship: part_of Orphanet:98497 ! Genetic peripheral neuropathy [Term] id: Orphanet:169467 name: Recurrent Neisseria infections due to factor D deficiency xref: ICD10:D84.1 xref: OMIM:613912 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101992 ! Immunodeficiency due to a complement cascade protein anomaly [Term] id: Orphanet:1695 name: Non-distal trisomy 10q xref: ICD10:Q92.3 xref: UMLS:C2936831 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262914 ! Partial duplication of the long arm of chromosome 10 relationship: part_of Orphanet:98642 ! Chromosomal anomaly with cataract property_value: alternative:term "Non-distal duplication 10q" xsd:string property_value: alternative:term "Non-telomeric trisomy 10q" xsd:string [Term] id: Orphanet:169615 name: Idiopathic central precocious puberty xref: ICD10:E22.8 xref: SNOMED CT:237817008 xref: UMLS:C0342544 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:759 ! Central precocious puberty [Term] id: Orphanet:169618 name: Secondary central precocious puberty is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:759 ! Central precocious puberty [Term] id: Orphanet:169793 name: Severe hemophilia B xref: ICD10:D67 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:98879 ! Hemophilia B property_value: alternative:term "Severe factor IX deficiency" xsd:string [Term] id: Orphanet:169796 name: Moderately severe hemophilia B xref: ICD10:D67 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:98879 ! Hemophilia B property_value: alternative:term "Moderately severe factor IX deficiency" xsd:string [Term] id: Orphanet:169799 name: Mild hemophilia B xref: ICD10:D67 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:98879 ! Hemophilia B property_value: alternative:term "Mild factor IX deficiency" xsd:string [Term] id: Orphanet:1698 name: Mosaic trisomy 12 xref: ICD10:Q92.1 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98131 ! Total autosomal trisomy [Term] id: Orphanet:169802 name: Severe hemophilia A xref: ICD10:D66 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98878 ! Hemophilia A property_value: alternative:term "Severe factor VIII deficiency" xsd:string [Term] id: Orphanet:169805 name: Moderately severe hemophilia A xref: ICD10:D66 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98878 ! Hemophilia A property_value: alternative:term "Moderately severe factor VIII deficiency" xsd:string [Term] id: Orphanet:169808 name: Mild hemophilia A xref: ICD10:D66 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98878 ! Hemophilia A property_value: alternative:term "Mild factor VIII deficiency" xsd:string [Term] id: Orphanet:169826 name: Congenital vitamin K-dependent coagulation factors deficiency xref: ICD10:D68.2 is_a: Orphanet:68334 ! Rare hemorrhagic disorder due to a constitutional coagulation factors defect [Term] id: Orphanet:169896 name: solute carrier family 17 (vesicular glutamate transporter), member 8 xref: ENSEMBL:ENSG00000179520 xref: GENATLAS:SLC17A8 xref: HGNC:20151 xref: OMIM:607557 xref: REACTOME:Q8NDX2 xref: UNIPROTKB/SWISSPROT:Q8NDX2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA property_value: alternative:term "deafness, autosomal dominant 25" xsd:string property_value: alternative:term "DFNA25" xsd:string property_value: alternative:term "Solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8" xsd:string property_value: alternative:term "vesicular glutamate transporter 3" xsd:string property_value: alternative:term "VGLUT3" xsd:string property_value: symbol "SLC17A8" xsd:string [Term] id: Orphanet:1699 name: Trisomy 12p xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262658 ! Partial trisomy/tetrasomy of the short arm of chromosome 12 property_value: alternative:term "Duplication 12p" xsd:string [Term] id: Orphanet:169900 name: glutaredoxin 5 xref: ENSEMBL:ENSG00000182512 xref: GENATLAS:GLRX5 xref: HGNC:20134 xref: OMIM:609588 xref: UNIPROTKB/SWISSPROT:Q86SX6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:255132 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adult-onset autosomal recessive sideroblastic anemia property_value: alternative:term "C14orf87" xsd:string property_value: alternative:term "chromosome 14 open reading frame 87" xsd:string property_value: alternative:term "glutaredoxin 5 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "GRX5" xsd:string property_value: alternative:term "PR01238" xsd:string property_value: symbol "GLRX5" xsd:string [Term] id: Orphanet:169905 name: T-box 15 xref: ENSEMBL:ENSG00000092607 xref: GENATLAS:TBX15 xref: HGNC:11594 xref: OMIM:604127 xref: UNIPROTKB/SWISSPROT:Q96SF7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93333 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pelviscapular dysplasia property_value: alternative:term "T-box 14" xsd:string property_value: alternative:term "TBX14" xsd:string property_value: symbol "TBX15" xsd:string [Term] id: Orphanet:169908 name: dynein, axonemal, intermediate chain 2 xref: ENSEMBL:ENSG00000171595 xref: GENATLAS:DNAI2 xref: HGNC:18744 xref: OMIM:605483 xref: UNIPROTKB/SWISSPROT:Q9GZS0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "CILD9" xsd:string property_value: alternative:term "DIC2" xsd:string property_value: alternative:term "dynein intermediate chain 2" xsd:string property_value: alternative:term "dynein, axonemal, intermediate polypeptide 2" xsd:string property_value: symbol "DNAI2" xsd:string [Term] id: Orphanet:169910 name: phosphodiesterase 11A xref: ENSEMBL:ENSG00000128655 xref: GENATLAS:PDE11A xref: HGNC:8773 xref: OMIM:604961 xref: REACTOME:Q9HCR9 xref: UNIPROTKB/SWISSPROT:Q9HCR9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:189439 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary pigmented nodular adrenocortical disease property_value: symbol "PDE11A" xsd:string [Term] id: Orphanet:169936 name: eyes shut homolog (Drosophila) xref: ENSEMBL:ENSG00000188107 xref: GENATLAS:EYS xref: HGNC:21555 xref: OMIM:612424 xref: UNIPROTKB/SWISSPROT:Q5T1H1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "bA166P24.2" xsd:string property_value: alternative:term "bA307F22.3" xsd:string property_value: alternative:term "bA74E24.1" xsd:string property_value: alternative:term "C6orf178" xsd:string property_value: alternative:term "C6orf179" xsd:string property_value: alternative:term "C6orf180" xsd:string property_value: alternative:term "chromosome 6 open reading frame 178" xsd:string property_value: alternative:term "chromosome 6 open reading frame 179" xsd:string property_value: alternative:term "chromosome 6 open reading frame 180" xsd:string property_value: alternative:term "dJ1018A4.2" xsd:string property_value: alternative:term "dJ303F19.1" xsd:string property_value: alternative:term "EGF-like-domain, multiple 10" xsd:string property_value: alternative:term "EGF-like-domain, multiple 11" xsd:string property_value: alternative:term "EGFL10" xsd:string property_value: alternative:term "EGFL11" xsd:string property_value: alternative:term "retinitis pigmentosa 25 (autosomal recessive)" xsd:string property_value: alternative:term "RP25" xsd:string property_value: alternative:term "SPAM" xsd:string property_value: symbol "EYS" xsd:string [Term] id: Orphanet:169944 name: lipin 1 xref: ENSEMBL:ENSG00000134324 xref: GENATLAS:LPIN1 xref: HGNC:13345 xref: OMIM:605518 xref: REACTOME:Q14693 xref: UNIPROTKB/SWISSPROT:Q14693 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99845 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Genetic recurrent myoglobinuria property_value: alternative:term "KIAA0188" xsd:string property_value: symbol "LPIN1" xsd:string [Term] id: Orphanet:169953 name: golgin, RAB6-interacting xref: ENSEMBL:ENSG00000120370 xref: GENATLAS:GORAB xref: HGNC:25676 xref: OMIM:607983 xref: UNIPROTKB/SWISSPROT:Q5T7V8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2078 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Geroderma osteodysplastica property_value: alternative:term "FLJ11752" xsd:string property_value: alternative:term "gerodermia osteodysplastica" xsd:string property_value: alternative:term "GO" xsd:string property_value: alternative:term "NTKL-BP1" xsd:string property_value: alternative:term "SCY1-like 1 binding protein 1" xsd:string property_value: alternative:term "SCYL1BP1" xsd:string property_value: symbol "GORAB" xsd:string [Term] id: Orphanet:169957 name: prickle homolog 1 (Drosophila) xref: ENSEMBL:ENSG00000139174 xref: GENATLAS:PRICKLE1 xref: HGNC:17019 xref: OMIM:608500 xref: REACTOME:Q96MT3 xref: UNIPROTKB/SWISSPROT:Q96MT3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:308 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Unverricht-Lundborg disease property_value: alternative:term "EPM1B" xsd:string property_value: alternative:term "FLJ31937" xsd:string property_value: alternative:term "prickle-like 1 (Drosophila)" xsd:string property_value: symbol "PRICKLE1" xsd:string [Term] id: Orphanet:169960 name: succinylCoA:glutarate-CoA transferase xref: ENSEMBL:ENSG00000175600 xref: GENATLAS:DERP13 xref: HGNC:16001 xref: OMIM:609187 xref: UNIPROTKB/SWISSPROT:Q9HAC7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:35706 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glutaric acidemia type 3 property_value: alternative:term "C7ORF10" xsd:string property_value: alternative:term "Chromosome 7 open reading frame 10" xsd:string property_value: alternative:term "dermal papilla derived protein 13" xsd:string property_value: alternative:term "DERP13" xsd:string property_value: alternative:term "FLJ11808" xsd:string property_value: alternative:term "ORF19" xsd:string property_value: alternative:term "Russel-Silver syndrome candidate" xsd:string property_value: symbol "SUGCT" xsd:string [Term] id: Orphanet:17 name: Fatal infantile lactic acidosis with methylmalonic aciduria xref: ICD10:E87.2 xref: OMIM:245400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:35698 ! Mitochondrial DNA depletion syndrome [Term] id: Orphanet:170 name: Woolly hair xref: ICD10:Q84.1 xref: MEDDRA:10048017 xref: MESH:C536745 xref: OMIM:194300 xref: OMIM:278150 xref: OMIM:604379 xref: SNOMED CT:254231002 xref: SNOMED CT:52564001 xref: UMLS:C0343073 xref: UMLS:C0345427 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79366 ! Isolated hair shaft abnormality property_value: alternative:term "Familial woolly hair syndrome" xsd:string property_value: alternative:term "Familial wooly hair syndrome" xsd:string property_value: alternative:term "Hereditary woolly hair syndrome" xsd:string property_value: alternative:term "Hereditary wooly hair syndrome" xsd:string property_value: alternative:term "Wooly hair" xsd:string [Term] id: Orphanet:1702 name: Non-distal trisomy 13q xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262932 ! Partial duplication of the long arm of chromosome 13 property_value: alternative:term "Non-distal duplication 13q" xsd:string property_value: alternative:term "Non-telomeric trisomy 13q" xsd:string [Term] id: Orphanet:1703 name: Mosaic trisomy 14 xref: ICD10:Q92.1 xref: MESH:C535489 xref: UMLS:C2930917 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98131 ! Total autosomal trisomy [Term] id: Orphanet:1705 name: Distal trisomy 14q xref: ICD10:Q92.3 xref: MESH:C538034 xref: UMLS:C2931702 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:262941 ! Partial duplication of the long arm of chromosome 14 relationship: part_of Orphanet:98574 ! Syndromic epicanthus property_value: alternative:term "Distal duplication 14q" xsd:string property_value: alternative:term "Telomeric duplication 14q" xsd:string property_value: alternative:term "Trisomy 14qter" xsd:string [Term] id: Orphanet:1706 name: Mosaic trisomy 15 xref: ICD10:Q92.1 xref: MESH:C538037 xref: UMLS:C2931707 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98131 ! Total autosomal trisomy [Term] id: Orphanet:1707 name: Distal trisomy 15q xref: ICD10:Q92.3 xref: MESH:C538036 xref: UMLS:C2931705 is_a: Orphanet:314585 ! 15q overgrowth syndrome property_value: alternative:term "Distal duplication 15q" xsd:string property_value: alternative:term "Telomeric duplication 15q" xsd:string property_value: alternative:term "Trisomy 15qter" xsd:string [Term] id: Orphanet:1708 name: Mosaic trisomy 16 xref: ICD10:Q92.1 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98131 ! Total autosomal trisomy [Term] id: Orphanet:171 name: Primary sclerosing cholangitis xref: ICD10:K83.0 xref: MEDDRA:10036732 xref: MESH:C536419 xref: OMIM:602114 xref: OMIM:613806 xref: SNOMED CT:197441003 xref: UMLS:C0566602 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:101941 ! Rare biliary tract disease property_value: alternative:term "PSC" xsd:string [Term] id: Orphanet:171034 name: glucose 6 phosphatase, catalytic, 3 xref: ENSEMBL:ENSG00000141349 xref: GENATLAS:G6PC3 xref: HGNC:24861 xref: OMIM:611045 xref: REACTOME:Q9BUM1 xref: UNIPROTKB/SWISSPROT:Q9BUM1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:331176 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency property_value: alternative:term "UGRP" xsd:string property_value: symbol "G6PC3" xsd:string [Term] id: Orphanet:171038 name: DDB1 and CUL4 associated factor 17 xref: ENSEMBL:ENSG00000115827 xref: GENATLAS:C2orf37 xref: HGNC:25784 xref: OMIM:612515 xref: UNIPROTKB/SWISSPROT:Q5H9S7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3464 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Woodhouse-Sakati syndrome property_value: alternative:term "C2orf37" xsd:string property_value: alternative:term "chromosome 2 open reading frame 37" xsd:string property_value: alternative:term "FLJ13096" xsd:string property_value: symbol "DCAF17" xsd:string [Term] id: Orphanet:171045 name: solute carrier family 2 (facilitated glucose transporter), member 9 xref: ENSEMBL:ENSG00000109667 xref: GENATLAS:SLC2A9 xref: HGNC:13446 xref: OMIM:606142 xref: REACTOME:Q9NRM0 xref: UNIPROTKB/SWISSPROT:Q9NRM0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:94088 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary renal hypouricemia property_value: alternative:term "Glut9" xsd:string property_value: alternative:term "GLUTX" xsd:string property_value: alternative:term "urate voltage-driven efflux transporter 1" xsd:string property_value: alternative:term "URATv1" xsd:string property_value: symbol "SLC2A9" xsd:string [Term] id: Orphanet:171050 name: ribosomal protein S7 xref: ENSEMBL:ENSG00000171863 xref: GENATLAS:RPS7 xref: HGNC:10440 xref: OMIM:603658 xref: REACTOME:P62081 xref: UNIPROTKB/SWISSPROT:P62081 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:124 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Blackfan-Diamond anemia property_value: alternative:term "S7" xsd:string property_value: symbol "RPS7" xsd:string [Term] id: Orphanet:171052 name: ribosomal protein L5 xref: ENSEMBL:ENSG00000122406 xref: GENATLAS:RPL5 xref: HGNC:10360 xref: OMIM:603634 xref: REACTOME:P46777 xref: UNIPROTKB/SWISSPROT:P46777 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:124 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Blackfan-Diamond anemia property_value: alternative:term "L5" xsd:string property_value: symbol "RPL5" xsd:string [Term] id: Orphanet:171055 name: ribosomal protein L11 xref: ENSEMBL:ENSG00000142676 xref: GENATLAS:RPL11 xref: HGNC:10301 xref: OMIM:604175 xref: REACTOME:P62913 xref: UNIPROTKB/SWISSPROT:P62913 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:124 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Blackfan-Diamond anemia property_value: alternative:term "L11" xsd:string property_value: symbol "RPL11" xsd:string [Term] id: Orphanet:171057 name: ribosomal protein L35a xref: ENSEMBL:ENSG00000182899 xref: GENATLAS:RPL35A xref: HGNC:10345 xref: OMIM:180468 xref: REACTOME:P18077 xref: UNIPROTKB/SWISSPROT:P18077 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:124 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Blackfan-Diamond anemia property_value: alternative:term "L35A" xsd:string property_value: symbol "RPL35A" xsd:string [Term] id: Orphanet:171059 name: methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria xref: ENSEMBL:ENSG00000168288 xref: GENATLAS:MMADHC xref: HGNC:25221 xref: OMIM:611935 xref: REACTOME:Q9H3L0 xref: UNIPROTKB/SWISSPROT:Q9H3L0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:308380 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Methylcobalamin deficiency type cblDv1 relationship: Orphanet:317343 Orphanet:308442 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Vitamin B12-responsive methylmalonic acidemia, type cblDv2 relationship: Orphanet:317343 Orphanet:79283 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Methylmalonic acidemia with homocystinuria, type cblD property_value: alternative:term "C2orf25" xsd:string property_value: alternative:term "cblD" xsd:string property_value: alternative:term "chromosome 2 open reading frame 25" xsd:string property_value: alternative:term "CL25022" xsd:string property_value: symbol "MMADHC" xsd:string [Term] id: Orphanet:171064 name: caveolin 1, caveolae protein, 22kDa xref: ENSEMBL:ENSG00000105974 xref: GENATLAS:CAV1 xref: HGNC:1527 xref: OMIM:601047 xref: REACTOME:Q03135 xref: UNIPROTKB/SWISSPROT:Q03135 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:275777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Heritable pulmonary arterial hypertension relationship: Orphanet:317343 Orphanet:528 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Berardinelli-Seip congenital lipodystrophy relationship: Orphanet:317345 Orphanet:220393 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Diffuse cutaneous systemic sclerosis relationship: Orphanet:317345 Orphanet:220402 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Limited cutaneous systemic sclerosis property_value: alternative:term "CAV" xsd:string property_value: alternative:term "caveolin 1, caveolae protein, 22kD" xsd:string property_value: symbol "CAV1" xsd:string [Term] id: Orphanet:171068 name: dynein, axonemal, assembly factor 2 xref: ENSEMBL:ENSG00000165506 xref: GENATLAS:C14orf104 xref: HGNC:20188 xref: OMIM:612517 xref: UNIPROTKB/SWISSPROT:Q9NVR5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "C14orf104" xsd:string property_value: alternative:term "chromosome 14 open reading frame 104" xsd:string property_value: alternative:term "CILD10" xsd:string property_value: alternative:term "FLJ10563" xsd:string property_value: alternative:term "kintoun" xsd:string property_value: alternative:term "KTU" xsd:string property_value: alternative:term "PF13" xsd:string property_value: symbol "DNAAF2" xsd:string [Term] id: Orphanet:171073 name: egl-9 family hypoxia-inducible factor 1 xref: ENSEMBL:ENSG00000135766 xref: GENATLAS:EGLN1 xref: HGNC:1232 xref: OMIM:606425 xref: REACTOME:Q9GZT9 xref: UNIPROTKB/SWISSPROT:Q9GZT9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:247511 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant secondary polycythemia property_value: alternative:term "C1orf12" xsd:string property_value: alternative:term "EGL nine (C.elegans) homolog 1" xsd:string property_value: alternative:term "Egl nine homolog 1 (C. elegans)" xsd:string property_value: alternative:term "HIF prolyl hydroxylase 2" xsd:string property_value: alternative:term "HIFPH2" xsd:string property_value: alternative:term "PHD2" xsd:string property_value: alternative:term "SM-20" xsd:string property_value: alternative:term "ZMYND6" xsd:string property_value: symbol "EGLN1" xsd:string [Term] id: Orphanet:171081 name: transient receptor potential cation channel, subfamily V, member 4 xref: ENSEMBL:ENSG00000111199 xref: GENATLAS:TRPV4 xref: HGNC:18083 xref: IUPHAR:510 xref: OMIM:605427 xref: REACTOME:Q9HBA0 xref: UNIPROTKB/SWISSPROT:Q9HBA0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1216 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant congenital benign spinal muscular atrophy relationship: Orphanet:317343 Orphanet:263482 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spondyloepiphyseal dysplasia, Maroteaux type relationship: Orphanet:317343 Orphanet:2635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Metatropic dysplasia relationship: Orphanet:317343 Orphanet:2646 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Parastremmatic dwarfism relationship: Orphanet:317343 Orphanet:85146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Scapuloperoneal amyotrophy relationship: Orphanet:317343 Orphanet:85169 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial digital arthropathy-brachydactyly relationship: Orphanet:317343 Orphanet:93304 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant brachyolmia relationship: Orphanet:317343 Orphanet:93314 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spondylometaphyseal dysplasia, Kozlowski type relationship: Orphanet:317343 Orphanet:99937 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Charcot-Marie-Tooth disease type 2C property_value: alternative:term "CMT2C" xsd:string property_value: alternative:term "osmosensitive transient receptor potential channel 4" xsd:string property_value: alternative:term "OTRPC4" xsd:string property_value: alternative:term "TRP12" xsd:string property_value: alternative:term "VR-OAC" xsd:string property_value: alternative:term "VRL-2" xsd:string property_value: alternative:term "VROAC" xsd:string property_value: symbol "TRPV4" xsd:string [Term] id: Orphanet:171089 name: myosin VB xref: ENSEMBL:ENSG00000167306 xref: GENATLAS:MYO5B xref: HGNC:7603 xref: OMIM:606540 xref: REACTOME:Q9ULV0 xref: UNIPROTKB/SWISSPROT:Q9ULV0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2290 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microvillous inclusion disease property_value: alternative:term "KIAA1119" xsd:string property_value: symbol "MYO5B" xsd:string [Term] id: Orphanet:1711 name: Mosaic trisomy 17 xref: ICD10:Q92.1 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98131 ! Total autosomal trisomy [Term] id: Orphanet:171201 name: High anorectal malformation xref: ICD10:Q42.0 xref: ICD10:Q42.1 xref: SNOMED CT:253771003 xref: UMLS:C0345210 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:557 ! Isolated anorectal malformation [Term] id: Orphanet:171208 name: Intermediate anorectal malformation xref: ICD10:Q42.0 xref: ICD10:Q42.1 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:557 ! Isolated anorectal malformation [Term] id: Orphanet:171215 name: Low anorectal malformation xref: ICD10:Q42.2 xref: ICD10:Q42.3 xref: SNOMED CT:253772005 xref: UMLS:C0345218 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:557 ! Isolated anorectal malformation [Term] id: Orphanet:171220 name: Rectal duplication xref: ICD10:Q43.4 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:96346 ! Anorectal malformation [Term] id: Orphanet:1713 name: 17p11.2 microduplication syndrome xref: ICD10:Q92.3 xref: MESH:C536578 xref: OMIM:610883 xref: UMLS:C2931246 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262803 ! Partial duplication of the short arm of chromosome 17 property_value: alternative:term "Potocki-Lupski syndrome" xsd:string property_value: alternative:term "Trisomy 17p11.2" xsd:string [Term] id: Orphanet:171430 name: Severe congenital nemaline myopathy xref: ICD10:G71.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:209059 ! Qualitative or quantitative defects of alpha-actin relationship: part_of Orphanet:209182 ! Qualitative or quantitative defects of nebulin relationship: part_of Orphanet:607 ! Nemaline myopathy [Term] id: Orphanet:171433 name: Intermediate nemaline myopathy xref: ICD10:G71.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:209059 ! Qualitative or quantitative defects of alpha-actin relationship: part_of Orphanet:209182 ! Qualitative or quantitative defects of nebulin relationship: part_of Orphanet:284790 ! Qualitative or quantitative defects of tropomyosin relationship: part_of Orphanet:607 ! Nemaline myopathy [Term] id: Orphanet:171436 name: Typical nemaline myopathy xref: ICD10:G71.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:209059 ! Qualitative or quantitative defects of alpha-actin relationship: part_of Orphanet:209182 ! Qualitative or quantitative defects of nebulin relationship: part_of Orphanet:284790 ! Qualitative or quantitative defects of tropomyosin relationship: part_of Orphanet:607 ! Nemaline myopathy [Term] id: Orphanet:171439 name: Childhood-onset nemaline myopathy xref: ICD10:G71.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:209059 ! Qualitative or quantitative defects of alpha-actin relationship: part_of Orphanet:209182 ! Qualitative or quantitative defects of nebulin relationship: part_of Orphanet:284790 ! Qualitative or quantitative defects of tropomyosin relationship: part_of Orphanet:607 ! Nemaline myopathy property_value: alternative:term "Mild nemaline myopathy" xsd:string [Term] id: Orphanet:171442 name: Adult-onset nemaline myopathy xref: ICD10:G71.2 xref: UMLS:C0546123 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:209059 ! Qualitative or quantitative defects of alpha-actin relationship: part_of Orphanet:209182 ! Qualitative or quantitative defects of nebulin relationship: part_of Orphanet:607 ! Nemaline myopathy property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset." xsd:string [Term] id: Orphanet:171445 name: Muscle filaminopathy xref: ICD10:G71.8 xref: OMIM:609524 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:209047 ! Qualitative or quantitative defects of filamin C relationship: part_of Orphanet:593 ! Myofibrillar myopathy [Term] id: Orphanet:1715 name: Trisomy 18p xref: ICD10:Q92.2 xref: MESH:C538307 xref: UMLS:C2931811 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262812 ! Partial trisomy/tetrasomy of the short arm of chromosome 18 property_value: alternative:term "Duplication 18p" xsd:string property_value: alternative:term "Short arm of chromosome 18 duplication" xsd:string property_value: alternative:term "Short arm of chromosome 18 trisomy" xsd:string [Term] id: Orphanet:1716 name: Distal trisomy 18q xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262977 ! Partial trisomy of the long arm of chromosome 18 property_value: alternative:term "Distal duplication 18q" xsd:string property_value: alternative:term "Telomeric duplication 18q" xsd:string property_value: alternative:term "Trisomy 18qter" xsd:string [Term] id: Orphanet:171607 name: X-linked spastic paraplegia type 34 xref: ICD10:G11.4 xref: OMIM:300750 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:320332 ! X-linked pure spastic paraplegia property_value: alternative:term "SPG34" xsd:string [Term] id: Orphanet:171612 name: Autosomal dominant spastic paraplegia type 37 xref: ICD10:G11.4 xref: OMIM:611945 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100980 ! Autosomal dominant pure spastic paraplegia property_value: alternative:term "SPG37" xsd:string [Term] id: Orphanet:171617 name: Autosomal dominant spastic paraplegia type 38 xref: ICD10:G11.4 xref: OMIM:612335 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100979 ! Autosomal dominant complex spastic paraplegia property_value: alternative:term "SPG38" xsd:string [Term] id: Orphanet:171622 name: Autosomal recessive spastic paraplegia type 32 xref: ICD10:G11.4 xref: OMIM:611252 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100981 ! Autosomal recessive complex spastic paraplegia property_value: alternative:term "SPG32" xsd:string [Term] id: Orphanet:171629 name: Autosomal recessive spastic paraplegia type 35 xref: ICD10:G11.4 xref: OMIM:612319 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:320346 ! Pure or complex autosomal recessive spastic paraplegia property_value: alternative:term "SPG35" xsd:string [Term] id: Orphanet:171634 name: AF4/FMR2 family, member 1 xref: ENSEMBL:ENSG00000172493 xref: GENATLAS:AFF1 xref: HGNC:7135 xref: OMIM:159557 xref: UNIPROTKB/SWISSPROT:P51825 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:99860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor B-cell acute lymphoblastic leukemia property_value: alternative:term "AF-4" xsd:string property_value: alternative:term "AF4" xsd:string property_value: alternative:term "MLLT2" xsd:string property_value: alternative:term "myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2" xsd:string property_value: alternative:term "PBM1" xsd:string property_value: alternative:term "pre-B-cell monocytic leukemia partner 1" xsd:string property_value: symbol "AFF1" xsd:string [Term] id: Orphanet:171640 name: transcription factor 3 xref: ENSEMBL:ENSG00000071564 xref: GENATLAS:TCF3 xref: HGNC:11633 xref: OMIM:147141 xref: REACTOME:P15923 xref: UNIPROTKB/SWISSPROT:P15923 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:33110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal agammaglobulinemia relationship: Orphanet:317348 Orphanet:99860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor B-cell acute lymphoblastic leukemia property_value: alternative:term "bHLHb21" xsd:string property_value: alternative:term "E2A" xsd:string property_value: alternative:term "E2A immunoglobulin enhancer-binding factor E12/E47" xsd:string property_value: alternative:term "E47" xsd:string property_value: alternative:term "immunoglobulin transcription factor 1" xsd:string property_value: alternative:term "ITF1" xsd:string property_value: alternative:term "kappa-E2-binding factor" xsd:string property_value: alternative:term "MGC129647" xsd:string property_value: alternative:term "MGC129648" xsd:string property_value: alternative:term "Transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)" xsd:string property_value: alternative:term "transcription factor E2-alpha" xsd:string property_value: alternative:term "VDIR" xsd:string property_value: alternative:term "VDR interacting repressor" xsd:string property_value: symbol "TCF3" xsd:string [Term] id: Orphanet:171647 name: pre-B-cell leukemia homeobox 1 xref: ENSEMBL:ENSG00000185630 xref: GENATLAS:PBX1 xref: HGNC:8632 xref: OMIM:176310 xref: UNIPROTKB/SWISSPROT:P40424 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:99860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor B-cell acute lymphoblastic leukemia property_value: alternative:term "pre-B-cell leukemia transcription factor 1" xsd:string property_value: symbol "PBX1" xsd:string [Term] id: Orphanet:171649 name: SCL/TAL1 interrupting locus xref: ENSEMBL:ENSG00000123473 xref: GENATLAS:STIL xref: HGNC:10879 xref: OMIM:181590 xref: UNIPROTKB/SWISSPROT:Q15468 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2512 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive primary microcephaly relationship: Orphanet:317348 Orphanet:99861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor T-cell acute lymphoblastic leukemia property_value: alternative:term "MCPH7" xsd:string property_value: alternative:term "SIL" xsd:string property_value: alternative:term "TAL1 (SCL) interrupting locus" xsd:string property_value: symbol "STIL" xsd:string [Term] id: Orphanet:171659 name: core-binding factor, beta subunit xref: ENSEMBL:ENSG00000067955 xref: GENATLAS:CBFB xref: HGNC:1539 xref: OMIM:121360 xref: UNIPROTKB/SWISSPROT:Q13951 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:98829 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) property_value: alternative:term "PEBP2B" xsd:string property_value: symbol "CBFB" xsd:string [Term] id: Orphanet:171663 name: runt-related transcription factor 1; translocated to, 1 (cyclin D-related) xref: ENSEMBL:ENSG00000079102 xref: GENATLAS:RUNX1T1 xref: HGNC:1535 xref: OMIM:133435 xref: UNIPROTKB/SWISSPROT:Q06455 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:102724 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute myeloid leukemia with t(8;21)(q22;q22) translocation property_value: alternative:term "AML1T1" xsd:string property_value: alternative:term "CBFA2T1" xsd:string property_value: alternative:term "CDR" xsd:string property_value: alternative:term "core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related" xsd:string property_value: alternative:term "ETO" xsd:string property_value: alternative:term "MTG8" xsd:string property_value: alternative:term "ZMYND2" xsd:string property_value: symbol "RUNX1T1" xsd:string [Term] id: Orphanet:171676 name: Periventricular leukomalacia xref: MEDDRA:10052594 xref: MESH:D007969 xref: SNOMED CT:230769007 xref: UMLS:C0023529 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:171680 name: Lissencephaly due to TUBA1A mutation xref: ICD10:Q04.3 xref: OMIM:611603 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:48471 ! Lissencephaly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis." xsd:string [Term] id: Orphanet:171684 name: Idiopathic bilateral vestibulopathy is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98036 ! Rare otorhinolaryngologic disease [Term] id: Orphanet:171690 name: Metabolic myopathy due to lactate transporter defect xref: OMIM:245340 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98486 ! Metabolic myopathy property_value: alternative:term "Erythrocyte lactate transporter defect" xsd:string [Term] id: Orphanet:171695 name: Parkinsonian-pyramidal syndrome xref: ICD10:G20 xref: OMIM:168100 xref: OMIM:260300 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: part_of Orphanet:306666 ! Rare parkinsonian syndrome due to neurodegenerative disease relationship: part_of Orphanet:307055 ! Rare parkinsonian syndrome due to genetic neurodegenerative disease property_value: alternative:term "Pallidopyramidal syndrome" xsd:string [Term] id: Orphanet:1717 name: Distal trisomy 19q xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262986 ! Partial duplication of the long arm of chromosome 19 property_value: alternative:term "Distal duplication 19q" xsd:string property_value: alternative:term "Telomeric duplication 19q" xsd:string property_value: alternative:term "Trisomy 19qter" xsd:string [Term] id: Orphanet:171700 name: Diffuse panbronchiolitis xref: MEDDRA:10062952 xref: MESH:C536174 xref: OMIM:604809 xref: SNOMED CT:430476004 xref: UMLS:C0878555 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101944 ! Rare pulmonary disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis" xsd:string [Term] id: Orphanet:171703 name: Microcephaly - polymicrogyria - corpus callosum agenesis xref: ICD10:Q04.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:199639 ! Syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:269573 ! Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature [Term] id: Orphanet:171706 name: Short stature-delayed bone age due to thyroid hormone metabolism deficiency xref: ICD10:E03.1 xref: OMIM:609698 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:226310 ! Peripheral hypothyroidism [Term] id: Orphanet:171709 name: Globozoospermia xref: OMIM:102530 xref: OMIM:613958 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:275742 ! Genetic infertility relationship: part_of Orphanet:98048 ! Rare male infertility property_value: alternative:term "Round-headed spermatozoa" xsd:string [Term] id: Orphanet:171714 name: Amish infantile epilepsy syndrome xref: ICD10:E77.8 xref: OMIM:609056 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:370933 ! ST3GAL5-CDG property_value: alternative:term "infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness" xsd:string [Term] id: Orphanet:171719 name: Cutis laxa-Marfanoid syndrome xref: OMIM:614100 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:139030 ! Malformation syndrome with connective tissue involvement [Term] id: Orphanet:171723 name: White sponge nevus xref: ICD10:Q38.6 xref: OMIM:193900 xref: SNOMED CT:389203001 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:294057 ! Rare nevus property_value: alternative:term "Hereditary mucosal leukokeratosis" xsd:string property_value: alternative:term "White sponge nevus of Cannon" xsd:string [Term] id: Orphanet:171829 name: 6q16 deletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:240371 ! Syndromic obesity relationship: part_of Orphanet:262047 ! Partial deletion of the long arm of chromosome 6 property_value: alternative:term "Del(6)(q16)" xsd:string property_value: alternative:term "Monosomy 6q16" xsd:string property_value: alternative:term "Prader-Willi-like syndrome due to deletion 6q16" xsd:string [Term] id: Orphanet:171836 name: Amelogenesis imperfecta and gingival hyperplasia syndrome xref: ICD10:K00.5 xref: OMIM:614253 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:164001 ! Rare odontal or periodontal disorder [Term] id: Orphanet:171839 name: Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature property_value: alternative:term "Berant syndrome" xsd:string property_value: alternative:term "Capra-DeMarco syndrome" xsd:string property_value: alternative:term "Familial scaphocephaly - radioulnar synostosis" xsd:string [Term] id: Orphanet:171844 name: Blindness - scoliosis - arachnodactyly xref: OMIM:612445 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101435 ! Rare genetic eye disease relationship: part_of Orphanet:139030 ! Malformation syndrome with connective tissue involvement [Term] id: Orphanet:171848 name: Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract xref: OMIM:612674 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:207015 ! Rare hereditary disease with peripheral neuropathy relationship: part_of Orphanet:352309 ! Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa property_value: alternative:term "Peripheral neuropathy, Fiskerstrand type" xsd:string property_value: alternative:term "PHARC syndrome" xsd:string [Term] id: Orphanet:171851 name: MEDNIK syndrome xref: OMIM:609313 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183438 ! Genetic erythrokeratoderma relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:281238 ! Autosomal ichthyosis syndrome with prominent neurologics signs relationship: part_of Orphanet:79355 ! Erythrokeratoderma relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Erythrokeratodermia variabilis 3" xsd:string property_value: alternative:term "Erythrokeratodermia variabilis, Kamouraska type" xsd:string property_value: alternative:term "Intellectual deficit - enteropathy - deafness - peripheral neuropathy - ichthyosis - keratodermia" xsd:string [Term] id: Orphanet:171860 name: Intellectual deficit - cataracts - kyphosis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:98641 ! Syndromic cataract [Term] id: Orphanet:171863 name: Autosomal dominant spastic paraplegia type 42 xref: ICD10:G11.4 xref: OMIM:612539 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:100980 ! Autosomal dominant pure spastic paraplegia property_value: alternative:term "SPG42" xsd:string [Term] id: Orphanet:171866 name: Spondyloepimetaphyseal dysplasia, aggrecan type xref: ICD10:Q77.7 xref: OMIM:612813 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:364817 ! Aggrecan-related bone disorder property_value: alternative:term "SEMD, aggrecan type" xsd:string [Term] id: Orphanet:171871 name: Renal pseudohypoaldosteronism type 1 xref: ICD10:N25.8 xref: OMIM:177735 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:756 ! Pseudohypoaldosteronism type 1 property_value: alternative:term "Autosomal dominant pseudohypoaldosteronism type 1" xsd:string [Term] id: Orphanet:171876 name: Generalized pseudohypoaldosteronism type 1 xref: ICD10:N25.8 xref: OMIM:264350 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:756 ! Pseudohypoaldosteronism type 1 property_value: alternative:term "Autosomal recessive pseudohypoaldosteronism type 1" xsd:string [Term] id: Orphanet:171881 name: Cap myopathy xref: ICD10:G71.2 xref: OMIM:609284 xref: OMIM:609285 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:284790 ! Qualitative or quantitative defects of tropomyosin relationship: part_of Orphanet:97245 ! Congenital myopathy property_value: alternative:term "Cap disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal, distal, facial and respiratory muscles associated with craniofacial and thoracic deformities. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis." xsd:string [Term] id: Orphanet:171886 name: Cylindrical spirals myopathy is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:97245 ! Congenital myopathy [Term] id: Orphanet:171889 name: Myopathy with hexagonally cross-linked tubular arrays is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:97245 ! Congenital myopathy [Term] id: Orphanet:171895 name: Myeloid hemopathy is_a: Orphanet:68347 ! Tumor of hematopoietic and lymphoid tissues [Term] id: Orphanet:171898 name: Lymphoid hemopathy is_a: Orphanet:68347 ! Tumor of hematopoietic and lymphoid tissues [Term] id: Orphanet:171901 name: Primary cutaneous T-cell lymphoma xref: ICD10:C84.8 xref: MEDDRA:10011677 xref: MESH:D016410 xref: SNOMED CT:28054005 xref: SNOMED CT:400122007 xref: UMLS:C0079773 is_a: Orphanet:542 ! Primary cutaneous lymphoma [Term] id: Orphanet:171915 name: B-cell non-Hodgkin lymphoma xref: ICD10:C85.1 is_a: Orphanet:547 ! Non-Hodgkin lymphoma property_value: alternative:term "B-cell NHL" xsd:string [Term] id: Orphanet:171918 name: T-cell non-Hodgkin lymphoma xref: ICD10:C84 is_a: Orphanet:547 ! Non-Hodgkin lymphoma property_value: alternative:term "T-cell NHL" xsd:string [Term] id: Orphanet:171929 name: Trisomy 10p xref: ICD10:Q92.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:262776 ! Partial duplication of the short arm of chromosome 10 [Term] id: Orphanet:172 name: Progressive familial intrahepatic cholestasis xref: ICD10:K83.1 xref: OMIM:211600 xref: OMIM:601847 xref: OMIM:602347 xref: SNOMED CT:74162007 xref: UMLS:C0268312 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:284385 ! Familial intrahepatic cholestasis relationship: part_of Orphanet:309816 ! Disorder of bilirubin metabolism and excretion property_value: alternative:term "PFIC" xsd:string [Term] id: Orphanet:1723 name: Mosaic trisomy 2 xref: ICD10:Q92.1 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98131 ! Total autosomal trisomy [Term] id: Orphanet:1724 name: Mosaic trisomy 20 xref: ICD10:Q92.1 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98131 ! Total autosomal trisomy [Term] id: Orphanet:1727 name: 22q11.2 microduplication syndrome xref: ICD10:Q92.3 xref: OMIM:608363 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:263004 ! Partial duplication of the long arm of chromosome 22 property_value: alternative:term "Dup(22)(q11)" xsd:string property_value: alternative:term "Duplication 22q11.2" xsd:string property_value: alternative:term "Trisomy 22q11.2" xsd:string [Term] id: Orphanet:172976 name: Congenital myopathy with cores xref: ICD10:G71.2 is_a: Orphanet:97245 ! Congenital myopathy [Term] id: Orphanet:172996 name: transmembrane protein 185A xref: ENSEMBL:ENSG00000155984 xref: GENATLAS:TMEM185A xref: HGNC:17125 xref: OMIM:300031 xref: UNIPROTKB/SWISSPROT:Q8NFB2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100974 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! FRAXF syndrome property_value: alternative:term "chromosome X open reading frame 13" xsd:string property_value: alternative:term "CXorf13" xsd:string property_value: alternative:term "FAM11A" xsd:string property_value: alternative:term "family with sequence similarity 11, member A" xsd:string property_value: symbol "TMEM185A" xsd:string [Term] id: Orphanet:173 name: Cholera xref: ICD10:A00.0 xref: ICD10:A00.1 xref: ICD10:A00.9 xref: MEDDRA:10008631 xref: MESH:D002771 xref: SNOMED CT:63650001 xref: UMLS:C0008354 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease [Term] id: Orphanet:173057 name: solute carrier family 29 (equilibrative nucleoside transporter), member 3 xref: ENSEMBL:ENSG00000198246 xref: GENATLAS:SLC29A3 xref: HGNC:23096 xref: OMIM:612373 xref: REACTOME:Q9BZD2 xref: UNIPROTKB/SWISSPROT:Q9BZD2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:168569 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! H syndrome relationship: Orphanet:317343 Orphanet:1782 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Dysosteosclerosis relationship: Orphanet:317343 Orphanet:254707 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Faisalabad histiocytosis relationship: Orphanet:317343 Orphanet:254712 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial sinus histiocytosis with massive lymphadenopathy relationship: Orphanet:317343 Orphanet:254723 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome property_value: alternative:term "ENT3" xsd:string property_value: alternative:term "FLJ11160" xsd:string property_value: alternative:term "Solute carrier family 29 (nucleoside transporters), member 3" xsd:string property_value: symbol "SLC29A3" xsd:string [Term] id: Orphanet:173149 name: fibroblast growth factor 8 (androgen-induced) xref: ENSEMBL:ENSG00000107831 xref: GENATLAS:FGF8 xref: HGNC:3686 xref: OMIM:600483 xref: REACTOME:P55075 xref: UNIPROTKB/SWISSPROT:P55075 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220386 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Semilobar holoprosencephaly relationship: Orphanet:317343 Orphanet:280195 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Septopreoptic holoprosencephaly relationship: Orphanet:317343 Orphanet:280200 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microform holoprosencephaly relationship: Orphanet:317343 Orphanet:432 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Normosmic congenital hypogonadotropic hypogonadism relationship: Orphanet:317343 Orphanet:478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kallmann syndrome relationship: Orphanet:317343 Orphanet:93924 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93925 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93926 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Midline interhemispheric variant of holoprosencephaly property_value: alternative:term "AIGF" xsd:string property_value: symbol "FGF8" xsd:string [Term] id: Orphanet:173154 name: Ts translation elongation factor, mitochondrial xref: ENSEMBL:ENSG00000123297 xref: GENATLAS:TSFM xref: HGNC:12367 xref: OMIM:604723 xref: UNIPROTKB/SWISSPROT:P43897 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:168566 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 property_value: alternative:term "EF-TS" xsd:string property_value: alternative:term "EF-Tsmt" xsd:string property_value: symbol "TSFM" xsd:string [Term] id: Orphanet:173184 name: cirrhosis, autosomal recessive 1A (cirhin) xref: ENSEMBL:ENSG00000141076 xref: GENATLAS:CIRH1A xref: HGNC:1983 xref: OMIM:607456 xref: UNIPROTKB/SWISSPROT:Q969X6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:168583 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary North American Indian childhood cirrhosis property_value: alternative:term "CIRHIN" xsd:string property_value: alternative:term "FLJ14728" xsd:string property_value: alternative:term "KIAA1988" xsd:string property_value: alternative:term "NAIC" xsd:string property_value: alternative:term "TEX292" xsd:string property_value: alternative:term "UTP4" xsd:string property_value: alternative:term "UTP4, small subunit (SSU) processome component, homolog (yeast)" xsd:string property_value: symbol "CIRH1A" xsd:string [Term] id: Orphanet:173203 name: hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) xref: ENSEMBL:ENSG00000049239 xref: GENATLAS:H6PD xref: HGNC:4795 xref: OMIM:138090 xref: UNIPROTKB/SWISSPROT:O95479 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:168588 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperandrogenism due to cortisone reductase deficiency property_value: alternative:term "GDH" xsd:string property_value: alternative:term "glucose dehyrogenase" xsd:string property_value: symbol "H6PD" xsd:string [Term] id: Orphanet:173206 name: hydroxysteroid (11-beta) dehydrogenase 1 xref: ENSEMBL:ENSG00000117594 xref: GENATLAS:HSD11B1 xref: HGNC:5208 xref: OMIM:600713 xref: REACTOME:P28845 xref: UNIPROTKB/SWISSPROT:P28845 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:168588 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperandrogenism due to cortisone reductase deficiency property_value: alternative:term "HSD11" xsd:string property_value: alternative:term "HSD11B" xsd:string property_value: alternative:term "SDR26C1" xsd:string property_value: alternative:term "short chain dehydrogenase/reductase family 26C, member 1" xsd:string property_value: symbol "HSD11B1" xsd:string [Term] id: Orphanet:173211 name: TSPY-like 1 xref: ENSEMBL:ENSG00000189241 xref: GENATLAS:TSPYL1 xref: HGNC:12382 xref: OMIM:604714 xref: UNIPROTKB/SWISSPROT:Q9H0U9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:168593 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sudden infant death - dysgenesis of the testes property_value: alternative:term "TSPY-like" xsd:string property_value: alternative:term "TSPYL" xsd:string property_value: symbol "TSPYL1" xsd:string [Term] id: Orphanet:173216 name: methionine adenosyltransferase I, alpha xref: ENSEMBL:ENSG00000151224 xref: GENATLAS:MAT1A xref: HGNC:6903 xref: OMIM:610550 xref: REACTOME:Q00266 xref: UNIPROTKB/SWISSPROT:Q00266 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:168598 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brain demyelination due to methionine adenosyltransferase deficiency property_value: alternative:term "MAT" xsd:string property_value: alternative:term "MATA1" xsd:string property_value: alternative:term "S-adenosylmethionine synthetase" xsd:string property_value: alternative:term "SAMS" xsd:string property_value: alternative:term "SAMS1" xsd:string property_value: symbol "MAT1A" xsd:string [Term] id: Orphanet:173222 name: transmembrane protease, serine 15 xref: ENSEMBL:ENSG00000154646 xref: GENATLAS:PRSS7 xref: HGNC:9490 xref: OMIM:606635 xref: UNIPROTKB/SWISSPROT:P98073 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:168601 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital enteropathy due to enteropeptidase deficiency property_value: alternative:term "enteropeptidase" xsd:string property_value: alternative:term "ENTK" xsd:string property_value: alternative:term "MGC133046" xsd:string property_value: alternative:term "proenterokinase" xsd:string property_value: alternative:term "protease, serine, 7 (enterokinase)" xsd:string property_value: alternative:term "PRSS7" xsd:string property_value: symbol "TMPRSS15" xsd:string [Term] id: Orphanet:173226 name: zinc finger protein 750 xref: ENSEMBL:ENSG00000141579 xref: GENATLAS:ZNF750 xref: HGNC:25843 xref: OMIM:610226 xref: REACTOME:Q32MQ0 xref: UNIPROTKB/SWISSPROT:Q32MQ0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:168606 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Seborrhea-like dermatitis with psoriasiform elements property_value: alternative:term "FLJ13841" xsd:string property_value: alternative:term "Zfp750" xsd:string property_value: symbol "ZNF750" xsd:string [Term] id: Orphanet:173230 name: alpha-fetoprotein xref: ENSEMBL:ENSG00000081051 xref: GENATLAS:AFP xref: HGNC:317 xref: OMIM:104150 xref: UNIPROTKB/SWISSPROT:P02771 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:168612 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital deficiency in alpha-fetoprotein relationship: Orphanet:317343 Orphanet:168615 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary persistence of alpha-fetoprotein property_value: alternative:term "FETA" xsd:string property_value: alternative:term "HPAFP" xsd:string property_value: symbol "AFP" xsd:string [Term] id: Orphanet:173240 name: cytochrome c, somatic xref: ENSEMBL:ENSG00000172115 xref: GENATLAS:CYCS xref: HGNC:19986 xref: OMIM:123970 xref: REACTOME:P99999 xref: UNIPROTKB/SWISSPROT:P99999 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:168629 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal thrombocytopenia with normal platelets property_value: alternative:term "CYC" xsd:string property_value: alternative:term "HCS" xsd:string property_value: symbol "CYCS" xsd:string [Term] id: Orphanet:173500 name: solute carrier family 36 (proton/amino acid symporter), member 2 xref: ENSEMBL:ENSG00000186335 xref: GENATLAS:SLC36A2 xref: HGNC:18762 xref: OMIM:608331 xref: REACTOME:Q495M3 xref: UNIPROTKB/SWISSPROT:Q495M3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:42062 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Iminoglycinuria property_value: alternative:term "PAT2" xsd:string property_value: alternative:term "TRAMD1" xsd:string property_value: alternative:term "tramdorin" xsd:string property_value: symbol "SLC36A2" xsd:string [Term] id: Orphanet:173505 name: solute carrier family 6 (proline IMINO transporter), member 20 xref: ENSEMBL:ENSG00000163817 xref: GENATLAS:SLC6A20 xref: HGNC:30927 xref: OMIM:605616 xref: REACTOME:Q9NP91 xref: UNIPROTKB/SWISSPROT:Q9NP91 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:42062 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Iminoglycinuria property_value: alternative:term "XT3" xsd:string property_value: alternative:term "Xtrp3" xsd:string property_value: symbol "SLC6A20" xsd:string [Term] id: Orphanet:173509 name: solute carrier family 6 (neutral amino acid transporter), member 18 xref: ENSEMBL:ENSG00000164363 xref: GENATLAS:SLC6A18 xref: HGNC:26441 xref: OMIM:610300 xref: REACTOME:Q96N87 xref: UNIPROTKB/SWISSPROT:Q96N87 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:42062 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Iminoglycinuria property_value: alternative:term "FLJ31236" xsd:string property_value: alternative:term "solute carrier family 6 (neurotransmitter transporter), member 18" xsd:string property_value: alternative:term "Solute carrier family 6, member 18" xsd:string property_value: alternative:term "Xtrp2" xsd:string property_value: symbol "SLC6A18" xsd:string [Term] id: Orphanet:173515 name: APC membrane recruitment protein 1 xref: ENSEMBL:ENSG00000184675 xref: GENATLAS:FAM123B xref: HGNC:26837 xref: OMIM:300647 xref: REACTOME:Q5JTC6 xref: UNIPROTKB/SWISSPROT:Q5JTC6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2780 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteopathia striata - cranial sclerosis property_value: alternative:term "Adenomatous polyposis coli membrane recruitment 1" xsd:string property_value: alternative:term "FAM123B" xsd:string property_value: alternative:term "Family with sequence similarity 123B" xsd:string property_value: alternative:term "FLJ39827" xsd:string property_value: alternative:term "RP11-403E24.2" xsd:string property_value: alternative:term "Wilms Tumor on the X" xsd:string property_value: alternative:term "WTX" xsd:string property_value: symbol "AMER1" xsd:string [Term] id: Orphanet:173523 name: adenylate kinase 2 xref: ENSEMBL:ENSG00000004455 xref: GENATLAS:AK2 xref: HGNC:362 xref: OMIM:103020 xref: REACTOME:P54819 xref: UNIPROTKB/SWISSPROT:P54819 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:33355 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Reticular dysgenesis property_value: symbol "AK2" xsd:string [Term] id: Orphanet:173526 name: RAN binding protein 2 xref: ENSEMBL:ENSG00000153201 xref: GENATLAS:RANBP2 xref: HGNC:9848 xref: OMIM:601181 xref: REACTOME:P49792 xref: UNIPROTKB/SWISSPROT:P49792 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:263524 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Acute necrotizing encephalopathy of childhood relationship: Orphanet:317345 Orphanet:88619 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial acute necrotizing encephalopathy relationship: Orphanet:317348 Orphanet:178342 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Inflammatory myofibroblastic tumor property_value: alternative:term "acute necrotizing encephalopathy 1 (autosomal dominant)" xsd:string property_value: alternative:term "ADANE" xsd:string property_value: alternative:term "ANE1" xsd:string property_value: alternative:term "NUP358" xsd:string property_value: symbol "RANBP2" xsd:string [Term] id: Orphanet:173530 name: discoidin domain receptor tyrosine kinase 2 xref: ENSEMBL:ENSG00000162733 xref: GENATLAS:DDR2 xref: HGNC:2731 xref: IUPHAR:1844 xref: OMIM:191311 xref: REACTOME:Q16832 xref: UNIPROTKB/SWISSPROT:Q16832 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93358 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification property_value: alternative:term "discoidin domain receptor family, member 2" xsd:string property_value: alternative:term "NTRKR3" xsd:string property_value: alternative:term "TKT" xsd:string property_value: alternative:term "TYRO10" xsd:string property_value: symbol "DDR2" xsd:string [Term] id: Orphanet:173556 name: component of oligomeric golgi complex 1 xref: ENSEMBL:ENSG00000166685 xref: GENATLAS:COG1 xref: HGNC:6545 xref: OMIM:606973 xref: UNIPROTKB/SWISSPROT:Q8WTW3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:263508 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! COG1-CDG property_value: alternative:term "KIAA1381" xsd:string property_value: alternative:term "LDLB" xsd:string property_value: alternative:term "low density lipoprotein receptor defect B complementing" xsd:string property_value: symbol "COG1" xsd:string [Term] id: Orphanet:173562 name: LMBR1 domain containing 1 xref: ENSEMBL:ENSG00000168216 xref: GENATLAS:LMBRD1 xref: HGNC:23038 xref: OMIM:612625 xref: REACTOME:Q9NUN5 xref: UNIPROTKB/SWISSPROT:Q9NUN5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79284 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Methylmalonic acidemia with homocystinuria, type cblF property_value: alternative:term "bA810I22.1" xsd:string property_value: alternative:term "C6orf209" xsd:string property_value: alternative:term "cblF" xsd:string property_value: alternative:term "chromosome 6 open reading frame 209" xsd:string property_value: alternative:term "FLJ11240" xsd:string property_value: symbol "LMBRD1" xsd:string [Term] id: Orphanet:1738 name: Trisomy 4p xref: ICD10:Q92.2 xref: MESH:C537643 xref: UMLS:C2931571 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262716 ! Partial duplication of the short arm of chromosome 4 property_value: alternative:term "Duplication 4p" xsd:string property_value: alternative:term "Short arm of chromosome 4 trisomy" xsd:string [Term] id: Orphanet:174 name: Metaphyseal chondrodysplasia, Schmid type xref: ICD10:Q78.5 xref: MESH:C537352 xref: OMIM:156500 xref: SNOMED CT:29248006 xref: UMLS:C0265289 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93430 ! Multiple metaphyseal dysplasia [Term] id: Orphanet:1742 name: Trisomy 5p xref: ICD10:Q92.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262725 ! Partial trisomy/tetrasomy of the short arm of chromosome 5 relationship: part_of Orphanet:93461 ! Chromosomal disease with overgrowth relationship: part_of Orphanet:98642 ! Chromosomal anomaly with cataract property_value: alternative:term "Duplication 5p" xsd:string property_value: alternative:term "Short arm of chromosome 5 trisomy" xsd:string [Term] id: Orphanet:1745 name: Distal trisomy 6p xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262740 ! Partial duplication of the short arm of chromosome 6 property_value: alternative:term "Distal duplication 6p" xsd:string property_value: alternative:term "Telomeric duplication 6p" xsd:string property_value: alternative:term "Trisomy 6pter" xsd:string [Term] id: Orphanet:174590 name: Congenital hypogonadotropic hypogonadism xref: ICD10:E23.0 is_a: Orphanet:180208 ! Anomaly of puberty or/and menstrual cycle is_a: Orphanet:202940 ! Anomaly of puberty or/and menstrual cycle of genetic origin is_a: Orphanet:95488 ! Nonacquired pituitary hormone deficiency is_a: Orphanet:98048 ! Rare male infertility [Term] id: Orphanet:1747 name: Mosaic trisomy 7 xref: ICD10:Q92.1 xref: MESH:C537822 xref: UMLS:C2931631 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98131 ! Total autosomal trisomy [Term] id: Orphanet:175 name: Cartilage-hair hypoplasia xref: ICD10:Q78.8 xref: MEDDRA:10069596 xref: MESH:C535916 xref: OMIM:250250 xref: SNOMED CT:7720002 xref: UMLS:C0220748 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:169349 ! Immuno-osseous dysplasia relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:93430 ! Multiple metaphyseal dysplasia property_value: alternative:term "Autosomal recessive metaphyseal chondrodysplasia" xsd:string property_value: alternative:term "Metaphyseal chondrodysplasia, McKusick type" xsd:string [Term] id: Orphanet:1752 name: Trisomy 8q xref: ICD10:Q92.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262896 ! Partial duplication of the long arm of chromosome 8 property_value: alternative:term "Duplication 8q" xsd:string [Term] id: Orphanet:1756 name: Caudal duplication xref: ICD10:Q87.8 xref: OMIM:607864 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature property_value: alternative:term "Dipygus" xsd:string property_value: alternative:term "Split notochord syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents." xsd:string [Term] id: Orphanet:1757 name: Fibular dimelia - diplopodia xref: ICD10:Q74.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "Leg duplication - mirror foot" xsd:string [Term] id: Orphanet:1759 name: Thoraco-abdominal enteric duplication xref: ICD10:Q43.4 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:108969 ! Syndromic intestinal malformation [Term] id: Orphanet:176 name: Non-rhizomelic chondrodysplasia punctata xref: ICD10:Q77.3 is_a: Orphanet:93442 ! Chondrodysplasia punctata relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:1762 name: Trisomy Xq28 xref: ICD10:Q99.8 xref: OMIM:300815 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:263783 ! Partial duplication of the long arm of chromosome X relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Distal duplication Xq" xsd:string property_value: alternative:term "Telomeric duplication Xq" xsd:string [Term] id: Orphanet:176228 name: isocitrate dehydrogenase 3 (NAD+) beta xref: ENSEMBL:ENSG00000101365 xref: GENATLAS:IDH3B xref: HGNC:5385 xref: OMIM:604526 xref: REACTOME:O43837 xref: UNIPROTKB/SWISSPROT:O43837 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "RP46" xsd:string property_value: symbol "IDH3B" xsd:string [Term] id: Orphanet:1764 name: Familial dysautonomia xref: ICD10:G90.1 xref: MEDDRA:10039179 xref: MESH:D004402 xref: OMIM:223900 xref: SNOMED CT:29159009 xref: UMLS:C0013364 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:140477 ! Autosomal recessive hereditary sensory and autonomic neuropathy relationship: part_of Orphanet:182058 ! Primary orthostatic hypotension relationship: part_of Orphanet:183472 ! Genetic dermis disorder relationship: part_of Orphanet:79381 ! Unclassified dermis disorder relationship: part_of Orphanet:98604 ! Congenital alacrima relationship: part_of Orphanet:98692 ! Nervous system anomaly with eye involvement property_value: alternative:term "Hereditary sensory and autonomic neuropathy type 3" xsd:string property_value: alternative:term "HSAN3" xsd:string property_value: alternative:term "Riley-Day syndrome" xsd:string [Term] id: Orphanet:1765 name: Dyschondrosteosis - nephritis xref: OMIM:127350 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93438 ! Mesomelic and rhizo-mesomelic dysplasia relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation [Term] id: Orphanet:1766 name: Dysequilibrium syndrome xref: ICD10:G11.8 xref: MEDDRA:10013140 xref: MESH:C535731 xref: OMIM:224050 xref: OMIM:610185 xref: OMIM:613227 xref: OMIM:615268 xref: SNOMED CT:230782004 xref: UMLS:C0394006 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98095 ! Autosomal recessive congenital cerebellar ataxia property_value: alternative:term "CAMRQ syndrome" xsd:string property_value: alternative:term "Cerebellar ataxia - intellectual deficit - dysequilibrium syndrome" xsd:string property_value: alternative:term "Non-progressive cerebellar ataxia - intellectual deficit" xsd:string [Term] id: Orphanet:1768 name: Familial caudal dysgenesis xref: ICD10:Q87.8 xref: OMIM:600145 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature relationship: part_of Orphanet:269564 ! Genetic syndrome with a central nervous system malformation as major feature property_value: alternative:term "Rudd-Klimek syndrome" xsd:string [Term] id: Orphanet:177 name: Rhizomelic chondrodysplasia punctata xref: ICD10:Q77.3 xref: MESH:D018902 xref: OMIM:215100 xref: OMIM:222765 xref: OMIM:600121 xref: SNOMED CT:56692003 xref: UMLS:C0282529 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:225686 ! Peroxisomal disease with epilepsy relationship: part_of Orphanet:68373 ! Peroxisomal disease relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:93442 ! Chondrodysplasia punctata relationship: part_of Orphanet:98648 ! Musculoskeletal disease with cataract relationship: part_of Orphanet:98712 ! Metabolic disease with cataract [Term] id: Orphanet:1770 name: Gonadal dysgenesis, XY type - associated anomalies xref: ICD10:Q99.1 xref: OMIM:233430 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:325638 ! Syndrome with disorder of sex development of gynecological interest relationship: part_of Orphanet:98087 ! Syndrome with 46,XY disorder of sex development [Term] id: Orphanet:177101 name: Rare adult hypothyroidism is_a: Orphanet:181396 ! Rare hypothyroidism [Term] id: Orphanet:177107 name: Syndromic hypothyroidism is_a: Orphanet:226292 ! Permanent congenital hypothyroidism [Term] id: Orphanet:1772 name: 45,X/46,XY mixed gonadal dysgenesis xref: ICD10:Q98.7 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:263746 ! Y chromosome number anomaly relationship: part_of Orphanet:325546 ! Sex chromosome disorder of sex development relationship: part_of Orphanet:98074 ! Gonadal dysgenesis of gynecological interest property_value: alternative:term "45,X/46,XY MGD" xsd:string property_value: alternative:term "45,X0/46,XY MGD" xsd:string property_value: alternative:term "45,X0/46,XY mixed gonadal dysgenesis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development." xsd:string [Term] id: Orphanet:1775 name: Dyskeratosis congenita xref: ICD10:Q82.8 xref: MEDDRA:10062759 xref: MESH:D019871 xref: OMIM:127550 xref: OMIM:224230 xref: OMIM:305000 xref: OMIM:613987 xref: OMIM:613988 xref: OMIM:613989 xref: OMIM:613990 xref: OMIM:615190 xref: SNOMED CT:74911008 xref: UMLS:C0265965 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:222628 ! Hereditary poikiloderma relationship: part_of Orphanet:331217 ! Other immunodeficiency syndrome due to defects in adaptive immunity relationship: part_of Orphanet:68383 ! Rare constitutional medullar aplasia relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit relationship: part_of Orphanet:98605 ! Excretory apparatus of the lacrimal system anomaly relationship: part_of Orphanet:98616 ! Conjunctival tumor property_value: alternative:term "DKC" xsd:string property_value: alternative:term "Zinsser-Engman-Cole syndrome" xsd:string [Term] id: Orphanet:1777 name: Temtamy syndrome xref: ICD10:Q87.8 xref: MESH:C536959 xref: OMIM:218340 xref: UMLS:C1857512 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:199639 ! Syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:269573 ! Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature property_value: alternative:term "Craniofacial dysmorphism - coloboma - corpus callosum agenesis" xsd:string property_value: alternative:term "Temtamy-Shalash syndrome" xsd:string [Term] id: Orphanet:1778 name: Facial dysmorphism - shawl scrotum - joint laxity xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Seaver-Cassidy syndrome" xsd:string [Term] id: Orphanet:1779 name: Dysmorphism - cleft palate - loose skin is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome [Term] id: Orphanet:177901 name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 xref: ICD10:Q87.1 is_a: Orphanet:98793 ! Prader-Willi syndrome due to paternal 15q11q13 deletion [Term] id: Orphanet:177904 name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 xref: ICD10:Q87.1 is_a: Orphanet:98793 ! Prader-Willi syndrome due to paternal 15q11q13 deletion [Term] id: Orphanet:177907 name: Prader-Willi syndrome due to translocation xref: ICD10:Q87.1 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:739 ! Prader-Willi syndrome [Term] id: Orphanet:177910 name: Prader-Willi syndrome due to imprinting mutation xref: ICD10:Q87.1 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:739 ! Prader-Willi syndrome [Term] id: Orphanet:177926 name: Symptomatic form of hemophilia A in female carriers xref: ICD10:D66 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98878 ! Hemophilia A [Term] id: Orphanet:177929 name: Symptomatic form of hemophilia B in female carriers xref: ICD10:D67 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98879 ! Hemophilia B [Term] id: Orphanet:178 name: Chordoma xref: MEDDRA:10008747 xref: MESH:D002817 xref: OMIM:215400 xref: SNOMED CT:50007008 xref: UMLS:C0008487 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183527 ! Genetic bone tumor relationship: part_of Orphanet:271847 ! Genetic endocrine tumor relationship: part_of Orphanet:68411 ! Rare bone tumor relationship: part_of Orphanet:95503 ! Pituitary hormone deficiency from tumoral origin [Term] id: Orphanet:178025 name: Nonacquired combined pituitary hormone deficiencies without extra-pituitary malformations xref: ICD10:E23.0 is_a: Orphanet:467 ! Nonacquired combined pituitary hormone deficiency [Term] id: Orphanet:178029 name: Central diabetes insipidus xref: ICD10:E23.2 xref: MEDDRA:10068587 xref: MESH:D020790 xref: OMIM:125700 xref: OMIM:304900 xref: SNOMED CT:45369008 xref: UMLS:C0687720 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:101957 ! Pituitary deficiency property_value: alternative:term "CDI" xsd:string property_value: alternative:term "Neurogenic diabetes insipidus" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI; see these terms)." xsd:string [Term] id: Orphanet:178040 name: Peripheral precocious puberty xref: ICD10:E30.1 is_a: Orphanet:202940 ! Anomaly of puberty or/and menstrual cycle of genetic origin is_a: Orphanet:95708 ! Precocious puberty [Term] id: Orphanet:178045 name: Transient congenital hypothyroidism xref: ICD10:P72.2 is_a: Orphanet:442 ! Congenital hypothyroidism relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Transient congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term) resulting from a thyroid hormone deficiency that is not permanent." xsd:string [Term] id: Orphanet:178077 name: radial spoke head 9 homolog (Chlamydomonas) xref: ENSEMBL:ENSG00000172426 xref: GENATLAS:RSPH9 xref: HGNC:21057 xref: OMIM:612648 xref: UNIPROTKB/SWISSPROT:Q9H1X1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "C6orf206" xsd:string property_value: alternative:term "chromosome 6 open reading frame 206" xsd:string property_value: alternative:term "CILD12" xsd:string property_value: alternative:term "FLJ30845" xsd:string property_value: alternative:term "mitochondrial ribosomal protein S18A-like 1" xsd:string property_value: alternative:term "MRPS18AL1" xsd:string property_value: symbol "RSPH9" xsd:string [Term] id: Orphanet:178082 name: radial spoke head 4 homolog A (Chlamydomonas) xref: ENSEMBL:ENSG00000111834 xref: GENATLAS:RSPH4A xref: HGNC:21558 xref: OMIM:612647 xref: UNIPROTKB/SWISSPROT:Q5TD94 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "CILD11" xsd:string property_value: alternative:term "dJ412I7.1" xsd:string property_value: alternative:term "FLJ37974" xsd:string property_value: alternative:term "radial spokehead-like 3" xsd:string property_value: alternative:term "RSHL3" xsd:string property_value: alternative:term "RSPH6B" xsd:string property_value: symbol "RSPH4A" xsd:string [Term] id: Orphanet:178120 name: adaptor-related protein complex 1, sigma 1 subunit xref: ENSEMBL:ENSG00000106367 xref: GENATLAS:AP1S1 xref: HGNC:559 xref: OMIM:603531 xref: REACTOME:P61966 xref: UNIPROTKB/SWISSPROT:P61966 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171851 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MEDNIK syndrome property_value: alternative:term "AP-1 complex subunit sigma-1A" xsd:string property_value: alternative:term "AP19" xsd:string property_value: alternative:term "CLAPS1" xsd:string property_value: alternative:term "clathrin assembly protein complex 1 sigma-1A small chain" xsd:string property_value: alternative:term "clathrin coat assembly protein AP19" xsd:string property_value: alternative:term "clathrin-associated/assembly/adaptor protein, small 1 (19kD)" xsd:string property_value: alternative:term "golgi adaptor HA1/AP1 adaptin sigma-1A subunit" xsd:string property_value: alternative:term "HA1 19 kDa subunit" xsd:string property_value: alternative:term "SIGMA1A" xsd:string property_value: alternative:term "sigma1A subunit of AP-1 clathrin adaptor complex" xsd:string property_value: alternative:term "sigma1A-adaptin" xsd:string property_value: alternative:term WUGSC:H_DJ0747G18.2 xsd:string property_value: symbol "AP1S1" xsd:string [Term] id: Orphanet:178127 name: fatty acid 2-hydroxylase xref: ENSEMBL:ENSG00000103089 xref: GENATLAS:FA2H xref: HGNC:21197 xref: OMIM:611026 xref: UNIPROTKB/SWISSPROT:Q7L5A8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171629 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 35 relationship: Orphanet:317343 Orphanet:329308 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fatty acid hydroxylase-associated neurodegeneration property_value: alternative:term "FAAH" xsd:string property_value: alternative:term "fatty acid hydroxylase" xsd:string property_value: alternative:term "fatty acid hydroxylase domain containing 1" xsd:string property_value: alternative:term "FAXDC1" xsd:string property_value: alternative:term "FLJ25287" xsd:string property_value: alternative:term "spastic paraplegia 35 (autosomal recessive)" xsd:string property_value: alternative:term "SPG35" xsd:string property_value: symbol "FA2H" xsd:string [Term] id: Orphanet:178145 name: Moderate multiminicore disease with hand involvement xref: ICD10:G71.2 xref: OMIM:117000 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:598 ! Multiminicore myopathy [Term] id: Orphanet:178148 name: Antenatal multiminicore disease with arthrogryposis multiplex congenita xref: ICD10:G71.2 xref: OMIM:607552 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:598 ! Multiminicore myopathy [Term] id: Orphanet:1782 name: Dysosteosclerosis xref: ICD10:Q78.8 xref: OMIM:224300 xref: SNOMED CT:254123002 xref: UMLS:C0432262 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2781 ! Osteopetrosis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly." xsd:string [Term] id: Orphanet:178303 name: 8q22.1 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:608156 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:262065 ! Partial deletion of the long arm of chromosome 8 relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Monosomy 8q22.1" xsd:string property_value: alternative:term "Nablus mask-like facial syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance." xsd:string [Term] id: Orphanet:178307 name: Reticulate acropigmentation of Kitamura xref: ICD10:L81.8 xref: OMIM:615537 xref: SNOMED CT:239133004 xref: UMLS:C0406811 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin property_value: alternative:term "RAPK" xsd:string [Term] id: Orphanet:178315 name: Undifferentiated embryonal sarcoma of the liver is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:306636 ! Rare hepatic tumor property_value: alternative:term "Embryonal sarcoma of the liver" xsd:string property_value: alternative:term "UES" xsd:string property_value: alternative:term "Undifferentiated sarcoma of the liver" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache." xsd:string [Term] id: Orphanet:178320 name: Acute lung injury xref: MEDDRA:10069351 xref: MESH:D055371 xref: SNOMED CT:315345002 xref: UMLS:C0242488 is_a: Orphanet:377793 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! particular clinical situation in a disease or syndrome relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:101944 ! Rare pulmonary disease [Term] id: Orphanet:178330 name: Heinz body anemia xref: ICD10:D58.2 xref: MEDDRA:10002058 xref: OMIM:140700 xref: UMLS:C0700299 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182043 ! Rare constitutional hemolytic anemia [Term] id: Orphanet:178333 name: Åland Islands eye disease xref: ICD10:H35.5 xref: OMIM:300600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:71862 ! Retinal dystrophy property_value: alternative:term "AIED" xsd:string property_value: alternative:term "Forsius-Eriksson syndrome" xsd:string property_value: alternative:term "Forsius-Eriksson type ocular albinism" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia." xsd:string [Term] id: Orphanet:178338 name: UV-sensitive syndrome xref: OMIM:600630 xref: OMIM:614621 xref: OMIM:614640 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183490 ! Genetic photodermatosis relationship: part_of Orphanet:79390 ! Rare photodermatosis [Term] id: Orphanet:178342 name: Inflammatory myofibroblastic tumor xref: MEDDRA:10067917 xref: SNOMED CT:116064009 xref: UMLS:C0334121 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:71209 ! Rare soft tissue tumor [Term] id: Orphanet:178345 name: Aromatase excess syndrome xref: ICD10:E30.1 xref: OMIM:139300 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:180208 ! Anomaly of puberty or/and menstrual cycle relationship: part_of Orphanet:202940 ! Anomaly of puberty or/and menstrual cycle of genetic origin relationship: part_of Orphanet:95708 ! Precocious puberty property_value: alternative:term "AEXS" xsd:string property_value: alternative:term "Familial hyperestrogenism" xsd:string property_value: alternative:term "Hereditary prepubertal gynecomastia" xsd:string [Term] id: Orphanet:178355 name: Smith-McCort dysplasia xref: ICD10:Q77.7 xref: OMIM:607326 xref: OMIM:615222 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia [Term] id: Orphanet:178364 name: Syndromic microphthalmia type 5 xref: ICD10:Q11.2 xref: OMIM:610125 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:202948 ! Syndromic microphthalmia property_value: alternative:term "MCOPS5" xsd:string property_value: alternative:term "Syndromic microphthalmia/anophthalmia due to OTX2 mutation" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations." xsd:string [Term] id: Orphanet:178377 name: Osteosclerosis - developmental delay - craniosynostosis xref: ICD10:Q75.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)." xsd:string [Term] id: Orphanet:178382 name: Congenital vertical talus xref: ICD10:Q66.8 xref: OMIM:192950 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:294944 ! Congenital deformities of limbs property_value: alternative:term "Congenital convex foot" xsd:string property_value: alternative:term "Congenital convex pes valgus" xsd:string property_value: alternative:term "Congenital rocker-bottom foot" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." xsd:string [Term] id: Orphanet:178389 name: Osteopetrosis - hypogammaglobulinemia xref: ICD10:Q78.2 xref: OMIM:612301 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2781 ! Osteopetrosis relationship: part_of Orphanet:331244 ! Other immunodeficiency syndrome with predominantly antibody defects property_value: alternative:term "Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia" xsd:string property_value: alternative:term "Autosomal recessive osteopetrosis type 7" xsd:string [Term] id: Orphanet:178396 name: Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68334 ! Rare hemorrhagic disorder due to a constitutional coagulation factors defect [Term] id: Orphanet:1784 name: Acro-fronto-facio-nasal dysostosis xref: ICD10:Q75.1 xref: OMIM:201180 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:364574 ! Acrofacial dysostosis property_value: alternative:term "Richieri-Costa-Colletto syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies." xsd:string [Term] id: Orphanet:178400 name: Distal myopathy with anterior tibial onset xref: ICD10:G71.0 xref: OMIM:606768 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:206653 ! Autosomal recessive distal myopathy relationship: part_of Orphanet:207073 ! Qualitative or quantitative defects of dysferlin property_value: alternative:term "Distal anterior compartment myopathy" xsd:string [Term] id: Orphanet:178461 name: X-linked myopathy with postural muscle atrophy xref: ICD10:G71.0 xref: OMIM:300696 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206644 ! Progressive muscular dystrophy [Term] id: Orphanet:178464 name: Hereditary proximal myopathy with early respiratory failure xref: ICD10:G71.0 xref: OMIM:603689 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206644 ! Progressive muscular dystrophy relationship: part_of Orphanet:206662 ! Inclusion myopathy relationship: part_of Orphanet:209053 ! Qualitative or quantitative defects of titin property_value: alternative:term "ADMERF" xsd:string property_value: alternative:term "Edström Myopathy" xsd:string property_value: alternative:term "Hereditary inclusion body myopathy with early respiratory failure" xsd:string property_value: alternative:term "HIBM-ERF" xsd:string property_value: alternative:term "Myofibrillar myopathy with early respiratory failure" xsd:string [Term] id: Orphanet:178469 name: Autosomal dominant nonsyndromic intellectual deficit xref: OMIM:156200 xref: OMIM:612580 xref: OMIM:612581 xref: OMIM:612621 xref: OMIM:613970 xref: OMIM:614104 xref: OMIM:614113 xref: OMIM:614254 xref: OMIM:614255 xref: OMIM:614256 xref: OMIM:614257 xref: OMIM:614563 xref: OMIM:615075 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:101685 ! Rare intellectual deficit without developmental anomaly [Term] id: Orphanet:178475 name: Wound botulism xref: ICD10:A05.1 xref: SNOMED CT:398530003 xref: UMLS:C1306794 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:230800 ! Toxin-mediated infectious botulism property_value: alternative:term "Cutaneous infectious botulism" xsd:string property_value: alternative:term "Cutaneous toxin-mediated botulism" xsd:string property_value: alternative:term "Inoculation botulism" xsd:string property_value: alternative:term "Skin infectious botulism" xsd:string property_value: alternative:term "Skin toxin-mediated botulism" xsd:string [Term] id: Orphanet:178478 name: Infant botulism xref: ICD10:A05.1 xref: SNOMED CT:414488002 xref: UMLS:C0238027 is_a: Orphanet:178481 ! Intestinal botulism relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Infant intestinal botulism" xsd:string property_value: alternative:term "Infant intestinal toxemia botulism" xsd:string property_value: alternative:term "Infant intestinal toxin-mediated botulism" xsd:string property_value: alternative:term "Infantile botulism" xsd:string [Term] id: Orphanet:178481 name: Intestinal botulism xref: ICD10:A05.1 is_a: Orphanet:230800 ! Toxin-mediated infectious botulism relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Intestinal colonization botulism" xsd:string property_value: alternative:term "Intestinal toxemia botulism" xsd:string property_value: alternative:term "Intestinal toxin-mediated botulism" xsd:string [Term] id: Orphanet:178487 name: Adult intestinal botulism xref: ICD10:A05.1 is_a: Orphanet:178481 ! Intestinal botulism relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Adult intestinal colonization botulism" xsd:string property_value: alternative:term "Adult intestinal toxemia botulism" xsd:string property_value: alternative:term "Adult intestinal toxin-mediated botulism" xsd:string property_value: alternative:term "Infant-like botulism" xsd:string [Term] id: Orphanet:178493 name: Myopic macular degeneration xref: ICD10:H35.3 xref: SNOMED CT:312898002 xref: UMLS:C0730271 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98657 ! Genetic vitreous-retinal disease property_value: alternative:term "Myopic maculopathy" xsd:string [Term] id: Orphanet:178503 name: Dursun syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_331176 with label: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" xsd:string [Term] id: Orphanet:178506 name: Brain calcification, Rajab type xref: OMIM:613658 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:71859 ! Rare genetic neurological disease relationship: part_of Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:178509 name: Perry syndrome xref: OMIM:168605 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:306666 ! Rare parkinsonian syndrome due to neurodegenerative disease relationship: part_of Orphanet:307055 ! Rare parkinsonian syndrome due to genetic neurodegenerative disease property_value: alternative:term "Parkinsonism with alveolar hypoventilation and mental depression" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." xsd:string [Term] id: Orphanet:178512 name: Folliculotropic mycosis fungoides xref: ICD10:C84.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:178566 ! Mycosis fungoides and variants property_value: alternative:term "Mycosis fungoides-associated follicular mucinosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Folliculotropic mycosis fungoides is a rare variant of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area." xsd:string [Term] id: Orphanet:178517 name: Localized pagetoid reticulosis xref: ICD10:C84.0 xref: MESH:D056267 xref: SNOMED CT:404120006 xref: UMLS:C1276140 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:178566 ! Mycosis fungoides and variants property_value: alternative:term "Pagetoid reticulosis, Woringer-Kolopp type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Localized pagetoid reticulosis is a rare variant of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by the presence of localized patches or plaques with epidermal hyperplasia and intraepidermal proliferation of neoplastic T-cells, usually involving one extremity." xsd:string [Term] id: Orphanet:178522 name: Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma xref: ICD10:C84.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:178548 ! Indolent primary cutaneous T-cell lymphoma [Term] id: Orphanet:178528 name: Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma xref: ICD10:C84.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:178551 ! Aggressive primary cutaneous T-cell lymphoma [Term] id: Orphanet:178533 name: Primary cutaneous gamma/delta-positive T-cell lymphoma xref: ICD10:C84.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:178551 ! Aggressive primary cutaneous T-cell lymphoma [Term] id: Orphanet:178536 name: Primary cutaneous marginal zone B-cell lymphoma xref: ICD10:C83.0 xref: MESH:D018442 xref: SNOMED CT:404140004 xref: SNOMED CT:420028002 xref: UMLS:C1275321 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:178557 ! Indolent primary cutaneous B-cell lymphoma property_value: alternative:term "PCMZL" xsd:string [Term] id: Orphanet:178540 name: Primary cutaneous follicle center lymphoma xref: ICD10:C82.6 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:178557 ! Indolent primary cutaneous B-cell lymphoma property_value: alternative:term "PCFCL" xsd:string [Term] id: Orphanet:178544 name: Primary cutaneous diffuse large B-cell lymphoma, leg type xref: ICD10:C83.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:178554 ! Aggressive primary cutaneous B-cell lymphoma property_value: alternative:term "PCDLBCL,LT" xsd:string [Term] id: Orphanet:178548 name: Indolent primary cutaneous T-cell lymphoma is_a: Orphanet:171901 ! Primary cutaneous T-cell lymphoma [Term] id: Orphanet:178551 name: Aggressive primary cutaneous T-cell lymphoma is_a: Orphanet:171901 ! Primary cutaneous T-cell lymphoma [Term] id: Orphanet:178554 name: Aggressive primary cutaneous B-cell lymphoma is_a: Orphanet:178563 ! Primary cutaneous B-cell lymphoma [Term] id: Orphanet:178557 name: Indolent primary cutaneous B-cell lymphoma is_a: Orphanet:178563 ! Primary cutaneous B-cell lymphoma [Term] id: Orphanet:178563 name: Primary cutaneous B-cell lymphoma is_a: Orphanet:542 ! Primary cutaneous lymphoma [Term] id: Orphanet:178566 name: Mycosis fungoides and variants xref: ICD10:C84.0 is_a: Orphanet:178548 ! Indolent primary cutaneous T-cell lymphoma property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course." xsd:string [Term] id: Orphanet:1786 name: Acrofacial dysostosis, Catania type xref: ICD10:Q75.4 xref: MESH:C538182 xref: OMIM:101805 xref: UMLS:C2931762 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:364574 ! Acrofacial dysostosis property_value: alternative:term "Opitz-Caltabiano syndrome" xsd:string [Term] id: Orphanet:1787 name: Acrofacial dysostosis, Palagonia type xref: ICD10:Q75.4 xref: MESH:C538185 xref: OMIM:601829 xref: UMLS:C1866168 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:364574 ! Acrofacial dysostosis [Term] id: Orphanet:178791 name: ADAMTS-like 4 xref: ENSEMBL:ENSG00000143382 xref: GENATLAS:ADAMTSL4 xref: HGNC:19706 xref: OMIM:610113 xref: UNIPROTKB/SWISSPROT:Q6UY14 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1885 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated ectopia lentis property_value: alternative:term "DKFZP434K1772" xsd:string property_value: alternative:term "thrombospondin repeat containing 1" xsd:string property_value: alternative:term "TSRC1" xsd:string property_value: symbol "ADAMTSL4" xsd:string [Term] id: Orphanet:178795 name: cyclin M4 xref: ENSEMBL:ENSG00000158158 xref: GENATLAS:CNNM4 xref: HGNC:105 xref: OMIM:607805 xref: UNIPROTKB/SWISSPROT:Q6P4Q7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1873 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Jalili syndrome property_value: alternative:term "ACDP4" xsd:string property_value: alternative:term "KIAA1592" xsd:string property_value: symbol "CNNM4" xsd:string [Term] id: Orphanet:1788 name: Acrofacial dysostosis, Rodriguez type xref: ICD10:Q75.4 xref: MESH:C538183 xref: OMIM:201170 xref: UMLS:C1860119 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:364574 ! Acrofacial dysostosis [Term] id: Orphanet:178801 name: serine peptidase inhibitor, Kunitz type, 2 xref: ENSEMBL:ENSG00000167642 xref: GENATLAS:SPINT2 xref: HGNC:11247 xref: OMIM:605124 xref: UNIPROTKB/SWISSPROT:O43291 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:103908 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital sodium diarrhea property_value: alternative:term "HAI-2" xsd:string property_value: alternative:term "Kop" xsd:string property_value: alternative:term "placental bikunin" xsd:string property_value: alternative:term "serine protease inhibitor, Kunitz type, 2" xsd:string property_value: symbol "SPINT2" xsd:string [Term] id: Orphanet:178806 name: fermitin family member 3 xref: ENSEMBL:ENSG00000149781 xref: GENATLAS:FERMT3 xref: HGNC:23151 xref: OMIM:607901 xref: UNIPROTKB/SWISSPROT:Q86UX7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99844 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leukocyte adhesion deficiency type III property_value: alternative:term "Fermitin family homolog 3 (Drosophila)" xsd:string property_value: alternative:term "KIND3" xsd:string property_value: alternative:term "kindlin-3" xsd:string property_value: alternative:term "MGC10966" xsd:string property_value: alternative:term "MIG-2" xsd:string property_value: alternative:term "MIG2B" xsd:string property_value: alternative:term "UNC112C" xsd:string property_value: alternative:term "URP2" xsd:string property_value: symbol "FERMT3" xsd:string [Term] id: Orphanet:178814 name: tachykinin 3 xref: ENSEMBL:ENSG00000166863 xref: GENATLAS:TAC3 xref: HGNC:11521 xref: OMIM:162330 xref: REACTOME:Q9UHF0 xref: UNIPROTKB/SWISSPROT:Q9UHF0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:432 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Normosmic congenital hypogonadotropic hypogonadism property_value: alternative:term "neurokinin beta" xsd:string property_value: alternative:term "neuromedin K" xsd:string property_value: alternative:term "NKB" xsd:string property_value: alternative:term "NKNB" xsd:string property_value: alternative:term "preprotachykinin-B" xsd:string property_value: alternative:term "ZNEUROK1" xsd:string property_value: symbol "TAC3" xsd:string [Term] id: Orphanet:178819 name: tachykinin receptor 3 xref: ENSEMBL:ENSG00000169836 xref: GENATLAS:TACR3 xref: HGNC:11528 xref: IUPHAR:362 xref: OMIM:162332 xref: REACTOME:P29371 xref: UNIPROTKB/SWISSPROT:P29371 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:432 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Normosmic congenital hypogonadotropic hypogonadism relationship: Orphanet:317343 Orphanet:478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kallmann syndrome property_value: alternative:term "neurokinin beta receptor" xsd:string property_value: alternative:term "NK3R" xsd:string property_value: symbol "TACR3" xsd:string [Term] id: Orphanet:178822 name: THAP domain containing, apoptosis associated protein 1 xref: ENSEMBL:ENSG00000131931 xref: GENATLAS:THAP1 xref: HGNC:20856 xref: OMIM:609520 xref: UNIPROTKB/SWISSPROT:Q9NVV9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98806 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary dystonia, DYT6 type property_value: alternative:term "4833431A01Rik" xsd:string property_value: alternative:term "dystonia 6, torsion (autosomal dominant)" xsd:string property_value: alternative:term "DYT6" xsd:string property_value: alternative:term "FLJ10477" xsd:string property_value: symbol "THAP1" xsd:string [Term] id: Orphanet:178826 name: spermatogenesis associated 7 xref: ENSEMBL:ENSG00000042317 xref: GENATLAS:SPATA7 xref: HGNC:20423 xref: OMIM:609868 xref: UNIPROTKB/SWISSPROT:Q9P0W8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:364055 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe early-childhood-onset retinal dystrophy relationship: Orphanet:317343 Orphanet:65 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber congenital amaurosis relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "HSD3" xsd:string property_value: alternative:term "LCA3" xsd:string property_value: alternative:term "Leber congenital amaurosis 3" xsd:string property_value: symbol "SPATA7" xsd:string [Term] id: Orphanet:178829 name: auditory neuropathy, X-linked recessive 1 xref: HGNC:31916 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:139583 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked hereditary sensory and autonomic neuropathy with deafness property_value: alternative:term "DFNX5" xsd:string property_value: symbol "AUNX1" xsd:string [Term] id: Orphanet:178996 name: Acquired neutropenia xref: ICD10:D70 is_a: Orphanet:310050 ! Acquired immunodeficiency property_value: alternative:term "Immunologic neutropenia" xsd:string [Term] id: Orphanet:179 name: Chorioretinopathy, Birdshot type xref: ICD10:H30.1 xref: MESH:C537630 xref: OMIM:605808 xref: UMLS:C1853959 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:90061 ! Non-infectious posterior uveitis [Term] id: Orphanet:1790 name: Hypomandibular faciocranial dysostosis xref: ICD10:Q75.4 xref: MESH:C537154 xref: OMIM:241310 xref: UMLS:C1855848 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:183542 ! Genetic cranial malformation relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:98038 ! Cranial malformation [Term] id: Orphanet:179006 name: Primary immunodeficiency due to a defect in adaptive immunity is_a: Orphanet:101997 ! Primary immunodeficiency [Term] id: Orphanet:1791 name: Fronto-facio-nasal dysostosis xref: ICD10:Q75.8 xref: OMIM:229400 xref: OMIM:601452 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:141234 ! Median facial cleft relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:93453 ! Dysostosis with predominant craniofacial involvement relationship: part_of Orphanet:98565 ! Syndromic ankyloblepharon relationship: part_of Orphanet:98566 ! Syndromic palpebral coloboma property_value: alternative:term "Fronto-facio-nasal dysplasia" xsd:string property_value: alternative:term "Gollop syndrome" xsd:string property_value: alternative:term "OAFNS" xsd:string property_value: alternative:term "Oculo-auriculo-fronto-nasal syndrome" xsd:string [Term] id: Orphanet:1792 name: Humerospinal dysostosis is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_263463 with label: CHST3-related skeletal dysplasia" xsd:string [Term] id: Orphanet:1794 name: Oculomaxillofacial dysostosis xref: MESH:C537736 xref: UMLS:C1838348 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:93453 ! Dysostosis with predominant craniofacial involvement property_value: alternative:term "Richieri-Costa-Gorlin syndrome" xsd:string [Term] id: Orphanet:179401 name: ADP-ribosylation factor-like 13B xref: ENSEMBL:ENSG00000169379 xref: GENATLAS:ARL13B xref: HGNC:25419 xref: OMIM:608922 xref: UNIPROTKB/SWISSPROT:Q3SXY8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:475 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome property_value: alternative:term "ADP-ribosylation factor-like 2-like 1" xsd:string property_value: alternative:term "ARL2L1" xsd:string property_value: alternative:term "DKFZp761H079" xsd:string property_value: alternative:term "JBTS8" xsd:string property_value: symbol "ARL13B" xsd:string [Term] id: Orphanet:179408 name: netrin G1 xref: ENSEMBL:ENSG00000162631 xref: GENATLAS:NTNG1 xref: HGNC:23319 xref: OMIM:608818 xref: UNIPROTKB/SWISSPROT:Q9Y2I2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3095 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atypical Rett syndrome property_value: alternative:term "KIAA0976" xsd:string property_value: alternative:term "Lmnt1" xsd:string property_value: alternative:term "netrin G1f" xsd:string property_value: alternative:term "Netrin-G1" xsd:string property_value: symbol "NTNG1" xsd:string [Term] id: Orphanet:179413 name: suppression of tumorigenicity 14 (colon carcinoma) xref: ENSEMBL:ENSG00000149418 xref: GENATLAS:ST14 xref: HGNC:11344 xref: IUPHAR:2418 xref: OMIM:606797 xref: UNIPROTKB/SWISSPROT:Q9Y5Y6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:91132 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ichthyosis-hypotrichosis syndrome property_value: alternative:term "epithin" xsd:string property_value: alternative:term "HAI" xsd:string property_value: alternative:term "matriptase" xsd:string property_value: alternative:term "MT-SP1" xsd:string property_value: alternative:term "PRSS14" xsd:string property_value: alternative:term "SNC19" xsd:string property_value: alternative:term "TMPRSS14" xsd:string property_value: symbol "ST14" xsd:string [Term] id: Orphanet:179419 name: klotho xref: ENSEMBL:ENSG00000133116 xref: GENATLAS:KL xref: HGNC:6344 xref: OMIM:604824 xref: REACTOME:Q9UEF7 xref: UNIPROTKB/SWISSPROT:Q9UEF7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:306661 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypercalcemic tumoral calcinosis property_value: symbol "KL" xsd:string [Term] id: Orphanet:179459 name: bone morphogenetic protein 2 xref: ENSEMBL:ENSG00000125845 xref: GENATLAS:BMP2 xref: HGNC:1069 xref: OMIM:112261 xref: REACTOME:P12643 xref: UNIPROTKB/SWISSPROT:P12643 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93396 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brachydactyly type A2 relationship: Orphanet:317349 Orphanet:261295 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 20p12.3 microdeletion syndrome property_value: alternative:term "BMP2A" xsd:string property_value: symbol "BMP2" xsd:string [Term] id: Orphanet:179462 name: coronin, actin binding protein, 1A xref: ENSEMBL:ENSG00000102879 xref: GENATLAS:CORO1A xref: HGNC:2252 xref: OMIM:605000 xref: UNIPROTKB/SWISSPROT:P31146 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:228003 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe combined immunodeficiency due to CORO1A deficiency property_value: alternative:term "Clabp TACO" xsd:string property_value: alternative:term "coronin, actin-binding protein, 1A" xsd:string property_value: alternative:term "coronin-1" xsd:string property_value: alternative:term "HCORO1" xsd:string property_value: alternative:term "p57" xsd:string property_value: symbol "CORO1A" xsd:string [Term] id: Orphanet:179490 name: Obesity due to congenital leptin resistance xref: ICD10:E66.8 is_a: Orphanet:98267 ! Nonsyndromic obesity [Term] id: Orphanet:179494 name: Obesity due to leptin receptor gene deficiency xref: ICD10:E66.8 xref: OMIM:614963 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:179490 ! Obesity due to congenital leptin resistance relationship: part_of Orphanet:181390 ! Hypogonadotropic hypogonadism associated with other endocrinopathies [Term] id: Orphanet:1795 name: Peripheral dysostosis xref: ICD10:Q74.8 xref: OMIM:170700 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93436 ! Acromelic dysplasia [Term] id: Orphanet:1797 name: Autosomal dominant spondylocostal dysostosis xref: ICD10:Q76.4 xref: OMIM:122600 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93454 ! Dysostosis with predominant vertebral and costal involvement property_value: alternative:term "Autosomal dominant spondylocostal dysplasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs." xsd:string [Term] id: Orphanet:1798 name: Dysostosis, Stanescu type xref: ICD10:Q78.8 xref: OMIM:122900 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density property_value: alternative:term "Autosomal dominant osteosclerosis, Stanescu type" xsd:string property_value: alternative:term "Craniofacial dysostosis - diaphyseal hyperplasia" xsd:string property_value: alternative:term "Stanescu osteosclerosis" xsd:string [Term] id: Orphanet:1799 name: Familial developmental dysphasia xref: ICD10:F80.1 xref: OMIM:600117 is_a: Orphanet:377792 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:211053 ! Specific language disorder property_value: alternative:term "Billard-Toutain-Maheut syndrome" xsd:string property_value: alternative:term "FOXP2-associated dysphasia" xsd:string [Term] id: Orphanet:18 name: Distal renal tubular acidosis xref: ICD10:N25.8 xref: MEDDRA:10045224 xref: OMIM:179800 xref: OMIM:267300 xref: OMIM:602722 xref: OMIM:611590 xref: SNOMED CT:236461000 xref: SNOMED CT:86210009 xref: UMLS:C0259810 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:314822 ! Primary renal tubular acidosis property_value: alternative:term "dRTA" xsd:string property_value: alternative:term "Familial distal primary acidosis" xsd:string property_value: alternative:term "Renal tubular acidosis type 1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis with classic hypokalemia, hyperkalemia or normokalemia." xsd:string [Term] id: Orphanet:180 name: Choroideremia xref: ICD10:H31.2 xref: MESH:D015794 xref: OMIM:303100 xref: SNOMED CT:75241009 xref: UMLS:C0008525 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98662 ! Unclassified familial retinal dystrophy property_value: alternative:term "CHM" xsd:string property_value: alternative:term "Tapetochoroidal dystrophy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." xsd:string [Term] id: Orphanet:180062 name: Uterovaginal malformation is_a: Orphanet:96344 ! Rare gynecologic or obstetric disease [Term] id: Orphanet:180065 name: Non-syndromic uterovaginal malformation is_a: Orphanet:180062 ! Uterovaginal malformation is_a: Orphanet:182117 ! Nonsyndromic urogenital tract malformation of female [Term] id: Orphanet:180068 name: Partial bilateral aplasia of the Müllerian duct xref: ICD10:Q51.8 is_a: Orphanet:73217 ! Mullerian aplasia property_value: alternative:term "Incomplete bilateral aplasia of the Müllerian duct" xsd:string [Term] id: Orphanet:180071 name: Unilateral aplasia of the Müllerian duct xref: ICD10:Q51.4 is_a: Orphanet:73217 ! Mullerian aplasia property_value: alternative:term "Unicornuate uterus" xsd:string [Term] id: Orphanet:180074 name: True unicornuate uterus xref: ICD10:Q51.4 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:180071 ! Unilateral aplasia of the Müllerian duct property_value: alternative:term "Complete unilateral aplasia of the Müllerian duct" xsd:string property_value: alternative:term "Unicornuate uterus without rudimentary horn" xsd:string [Term] id: Orphanet:180079 name: Pseudounicornuate uterus xref: ICD10:Q51.4 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:180071 ! Unilateral aplasia of the Müllerian duct property_value: alternative:term "Incomplete unilateral aplasia of the Müllerian duct" xsd:string property_value: alternative:term "Unicornuate uterus with rudimentary horn" xsd:string [Term] id: Orphanet:180086 name: Didelphys uterus xref: ICD10:Q51.1 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:180134 ! Bicornuate uterus property_value: alternative:term "Bicervical bicornuate uterus" xsd:string [Term] id: Orphanet:1801 name: Kyphomelic dysplasia xref: MESH:C538128 xref: OMIM:211350 xref: SNOMED CT:254096001 xref: UMLS:C0432239 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93439 ! Bent bone dysplasia [Term] id: Orphanet:180106 name: Bicervical bicornuate uterus and blind hemivagina xref: ICD10:Q51.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:180086 ! Didelphys uterus property_value: alternative:term "Bicervical bicornuate uterus one-eyed hemi-vagina" xsd:string [Term] id: Orphanet:180111 name: Bicervical bicornuate uterus with patent cervix and vagina xref: ICD10:Q51.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:180086 ! Didelphys uterus [Term] id: Orphanet:180114 name: Unicervical bicornuate uterus xref: ICD10:Q51.3 is_a: Orphanet:180134 ! Bicornuate uterus [Term] id: Orphanet:180118 name: Cordiform uterus xref: ICD10:Q51.3 xref: SNOMED CT:14689000 xref: UMLS:C0266397 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:180114 ! Unicervical bicornuate uterus property_value: alternative:term "Uterus arcuatus" xsd:string property_value: alternative:term "Uterus cordiformis" xsd:string [Term] id: Orphanet:180122 name: Septate uterus xref: ICD10:Q51.2 xref: MEDDRA:10062606 is_a: Orphanet:180065 ! Non-syndromic uterovaginal malformation [Term] id: Orphanet:180126 name: Total septate uterus xref: ICD10:Q51.2 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:180122 ! Septate uterus [Term] id: Orphanet:180129 name: Subtotal septate uterus xref: ICD10:Q51.2 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:180122 ! Septate uterus [Term] id: Orphanet:180134 name: Bicornuate uterus xref: ICD10:Q51.3 xref: MEDDRA:10004550 xref: SNOMED CT:31401003 xref: UMLS:C0266387 is_a: Orphanet:180065 ! Non-syndromic uterovaginal malformation [Term] id: Orphanet:180139 name: Uterine hypoplasia xref: ICD10:Q51.8 xref: MEDDRA:10063146 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:180065 ! Non-syndromic uterovaginal malformation [Term] id: Orphanet:180142 name: Agenesis and aplasia of uterine body xref: ICD10:Q51.0 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:180065 ! Non-syndromic uterovaginal malformation [Term] id: Orphanet:180145 name: Uterine cervical aplasia and agenesis xref: ICD10:Q51.5 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:180065 ! Non-syndromic uterovaginal malformation [Term] id: Orphanet:180148 name: Syndromic uterovaginal malformation is_a: Orphanet:180062 ! Uterovaginal malformation [Term] id: Orphanet:180151 name: Rare vaginal malformation is_a: Orphanet:182117 ! Nonsyndromic urogenital tract malformation of female is_a: Orphanet:96344 ! Rare gynecologic or obstetric disease [Term] id: Orphanet:180154 name: Septate vagina xref: ICD10:Q52.1 xref: SNOMED CT:47054003 xref: UMLS:C0266411 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:180151 ! Rare vaginal malformation [Term] id: Orphanet:180157 name: Longitudinal vaginal septum xref: ICD10:Q52.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:180154 ! Septate vagina [Term] id: Orphanet:180160 name: Transverse vaginal septum xref: ICD10:Q52.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:180154 ! Septate vagina [Term] id: Orphanet:180163 name: Rare breast malformation is_a: Orphanet:96344 ! Rare gynecologic or obstetric disease [Term] id: Orphanet:180170 name: Excess breast volume or number is_a: Orphanet:180163 ! Rare breast malformation [Term] id: Orphanet:180173 name: Deficient breast volume or number is_a: Orphanet:180163 ! Rare breast malformation [Term] id: Orphanet:180176 name: Familial juvenile hypertrophy of the breast xref: ICD10:N62 xref: OMIM:113670 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: part_of Orphanet:180170 ! Excess breast volume or number property_value: alternative:term "Familial juvenile gigantomastia" xsd:string property_value: alternative:term "Virginal breast hypertrophy" xsd:string [Term] id: Orphanet:180182 name: Supernumerary breasts xref: ICD10:Q83.1 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:180170 ! Excess breast volume or number property_value: alternative:term "Accessory breasts" xsd:string property_value: alternative:term "Polymastia" xsd:string [Term] id: Orphanet:180188 name: Isolated breast aplasia xref: ICD10:Q83.0 xref: OMIM:113700 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:180173 ! Deficient breast volume or number property_value: alternative:term "Isolated amastia" xsd:string [Term] id: Orphanet:180193 name: Syndromic breast hypoplasia/aplasia is_a: Orphanet:180173 ! Deficient breast volume or number [Term] id: Orphanet:180199 name: Non-malformative external or internal genital disease is_a: Orphanet:96344 ! Rare gynecologic or obstetric disease [Term] id: Orphanet:1802 name: Ghosal hematodiaphyseal dysplasia xref: OMIM:231095 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density property_value: alternative:term "Diaphyseal dysplasia - anemia" xsd:string property_value: alternative:term "Ghosal syndrome" xsd:string [Term] id: Orphanet:180202 name: Rare non-malformative breast disease is_a: Orphanet:180199 ! Non-malformative external or internal genital disease [Term] id: Orphanet:180205 name: Rare non-malformative utero-vaginal or vulvo-vaginal disease is_a: Orphanet:180199 ! Non-malformative external or internal genital disease [Term] id: Orphanet:180208 name: Anomaly of puberty or/and menstrual cycle is_a: Orphanet:96344 ! Rare gynecologic or obstetric disease [Term] id: Orphanet:180211 name: reticulon 2 xref: ENSEMBL:ENSG00000125744 xref: GENATLAS:RTN2 xref: HGNC:10468 xref: OMIM:603183 xref: UNIPROTKB/SWISSPROT:O75298 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100993 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant spastic paraplegia type 12 property_value: alternative:term "Neuroendocrine-specific protein-like 1" xsd:string property_value: alternative:term "NSP-like protein 1" xsd:string property_value: alternative:term "NSP2" xsd:string property_value: alternative:term "NSPL1" xsd:string property_value: alternative:term "Spastic paraplegia 12 (autosomal dominant)" xsd:string property_value: alternative:term "SPG12" xsd:string property_value: symbol "RTN2" xsd:string [Term] id: Orphanet:180213 name: spastic paraplegia 19 (autosomal dominant) xref: HGNC:16706 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100999 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant spastic paraplegia type 19 property_value: symbol "SPG19" xsd:string [Term] id: Orphanet:180215 name: solute carrier family 33 (acetyl-CoA transporter), member 1 xref: ENSEMBL:ENSG00000169359 xref: GENATLAS:SLC33A1 xref: HGNC:95 xref: OMIM:603690 xref: REACTOME:O00400 xref: UNIPROTKB/SWISSPROT:O00400 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171863 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant spastic paraplegia type 42 relationship: Orphanet:317343 Orphanet:300313 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital cataract-hearing loss-severe developmental delay syndrome property_value: alternative:term "ACATN" xsd:string property_value: alternative:term "acetyl-Coenzyme A transporter" xsd:string property_value: alternative:term "AT-1" xsd:string property_value: alternative:term "AT1" xsd:string property_value: alternative:term "spastic paraplegia 42 (autosomal dominant)" xsd:string property_value: alternative:term "SPG42" xsd:string property_value: symbol "SLC33A1" xsd:string [Term] id: Orphanet:180220 name: Rare uterine adnexal tumor is_a: Orphanet:98063 ! Rare gynecological tumor [Term] id: Orphanet:180224 name: spastic paraplegia 9 (autosomal dominant) xref: HGNC:11239 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100990 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant spastic paraplegia type 9 property_value: symbol "SPG9" xsd:string [Term] id: Orphanet:180226 name: Embryonal carcinoma xref: MESH:D018236 xref: SNOMED CT:28047004 xref: UMLS:C0206659 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:99913 ! Extragonadal non-dysgerminomatous germ cell tumor [Term] id: Orphanet:180229 name: Polyembryoma xref: SNOMED CT:28325008 xref: UMLS:C0334518 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:99913 ! Extragonadal non-dysgerminomatous germ cell tumor [Term] id: Orphanet:180232 name: spastic paraplegia 29 (autosomal dominant) xref: HGNC:30161 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101009 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal dominant spastic paraplegia type 29 property_value: symbol "SPG29" xsd:string [Term] id: Orphanet:180234 name: Mixed germ cell tumor xref: SNOMED CT:32844007 xref: UMLS:C0334524 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:363579 ! Extragonadal germ cell tumor [Term] id: Orphanet:180237 name: Benign tumor of fallopian tubes xref: ICD10:D28.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:180220 ! Rare uterine adnexal tumor [Term] id: Orphanet:180240 name: spastic paraplegia 37 (autosomal dominant) xref: HGNC:33472 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171612 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant spastic paraplegia type 37 property_value: symbol "SPG37" xsd:string [Term] id: Orphanet:180242 name: Malignant tumor of fallopian tubes xref: ICD10:C57.0 xref: SNOMED CT:363444001 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:180220 ! Rare uterine adnexal tumor property_value: alternative:term "Cancer of fallopian tubes" xsd:string [Term] id: Orphanet:180245 name: spastic paraplegia 38 (autosomal dominant, Silver syndrome) xref: HGNC:33485 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171617 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant spastic paraplegia type 38 property_value: symbol "SPG38" xsd:string [Term] id: Orphanet:180247 name: Vaginal carcinoma xref: ICD10:C52 xref: SNOMED CT:254893005 xref: UMLS:C0262659 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:180312 ! Rare vulvovaginal tumor property_value: alternative:term "Vaginal malignant epithelial tumor" xsd:string [Term] id: Orphanet:180250 name: Rare breast tumor is_a: Orphanet:98063 ! Rare gynecological tumor [Term] id: Orphanet:180253 name: Rare benign breast tumor xref: ICD10:D24 is_a: Orphanet:180250 ! Rare breast tumor [Term] id: Orphanet:180257 name: Rare malignant breast tumor xref: ICD10:C50 is_a: Orphanet:180250 ! Rare breast tumor property_value: alternative:term "Rare breast cancer" xsd:string [Term] id: Orphanet:180261 name: Phyllode tumor xref: ICD10:D24 xref: MEDDRA:10011813 xref: MESH:D003557 xref: UMLS:C0010701 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:180253 ! Rare benign breast tumor property_value: alternative:term "Cystosarcoma phyllode" xsd:string property_value: alternative:term "Cystosarcoma phylloide" xsd:string property_value: alternative:term "Phylloide tumor" xsd:string [Term] id: Orphanet:180267 name: Giant adenofibroma of the breast xref: ICD10:D24 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:180253 ! Rare benign breast tumor [Term] id: Orphanet:180270 name: spastic paraplegia 24 (autosomal recessive) xref: HGNC:22993 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101004 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 24 property_value: symbol "SPG24" xsd:string [Term] id: Orphanet:180273 name: DDHD domain containing 1 xref: ENSEMBL:ENSG00000100523 xref: GENATLAS:DDHD1 xref: HGNC:19714 xref: OMIM:614603 xref: UNIPROTKB/SWISSPROT:Q8NEL9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101008 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 28 property_value: alternative:term "KIAA1705" xsd:string property_value: alternative:term "PA-PLA1" xsd:string property_value: alternative:term "Phosphatidic acid-preferring phospholipase A1" xsd:string property_value: alternative:term "Spastic paraplegia 28 (autosomal recessive)" xsd:string property_value: alternative:term "SPG28" xsd:string property_value: symbol "DDHD1" xsd:string [Term] id: Orphanet:180275 name: Paget disease of the nipple xref: ICD10:C50.0 xref: MEDDRA:10033367 xref: MESH:D010144 xref: SNOMED CT:2985005 xref: SNOMED CT:403946000 xref: UMLS:C0030185 xref: UMLS:C1704323 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:180257 ! Rare malignant breast tumor property_value: alternative:term "Paget's disease of the nipple" xsd:string [Term] id: Orphanet:180284 name: Benign ductal tumor of breast xref: ICD10:D24 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:180250 ! Rare breast tumor [Term] id: Orphanet:180294 name: spastic paraplegia 14 (autosomal recessive) xref: HGNC:13730 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100995 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 14 property_value: symbol "SPG14" xsd:string [Term] id: Orphanet:1803 name: Thoracomelic dysplasia xref: ICD10:Q77.2 xref: OMIM:273740 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:182108 ! Thoracic malformation relationship: part_of Orphanet:93426 ! Short rib dysplasia property_value: alternative:term "Rivera-Perez-Salas syndrome" xsd:string [Term] id: Orphanet:180301 name: spastic paraplegia 23 (autosomal recessive) xref: HGNC:21340 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101003 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 23 property_value: symbol "SPG23" xsd:string [Term] id: Orphanet:180303 name: Rare non-malformative uterine adnexal disease is_a: Orphanet:180199 ! Non-malformative external or internal genital disease [Term] id: Orphanet:180307 name: spastic paraplegia 25 (autosomal recessive, with disc herniation) xref: HGNC:25855 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101005 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 25 property_value: symbol "SPG25" xsd:string [Term] id: Orphanet:180312 name: Rare vulvovaginal tumor is_a: Orphanet:98063 ! Rare gynecological tumor [Term] id: Orphanet:180316 name: spastic paraplegia 27 (autosomal recessive) xref: HGNC:26071 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101007 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 27 property_value: symbol "SPG27" xsd:string [Term] id: Orphanet:180318 name: spastic paraplegia 32 (autosomal recessive) xref: HGNC:32314 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171622 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 32 property_value: alternative:term "SPG29" xsd:string property_value: symbol "SPG32" xsd:string [Term] id: Orphanet:180322 name: spastic paraplegia 16 (complicated, X-linked recessive) xref: HGNC:14260 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100997 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked spastic paraplegia type 16 property_value: symbol "SPG16" xsd:string [Term] id: Orphanet:180324 name: spastic paraplegia 34 (autosomal dominant) xref: HGNC:32944 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171607 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked spastic paraplegia type 34 property_value: symbol "SPG34" xsd:string [Term] id: Orphanet:1804 name: Dyssegmental dysplasia - glaucoma xref: OMIM:601561 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature [Term] id: Orphanet:1806 name: Ectodermal dysplasia - blindness xref: ICD10:Q87.8 xref: OMIM:268320 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:98709 ! Ectodermal malformation syndrome associated with ocular features [Term] id: Orphanet:1807 name: Facial ectodermal dysplasia is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_79133 with label: Focal facial dermal dysplasia" xsd:string [Term] id: Orphanet:180766 name: Malformative syndrome with dentinogenesis imperfecta is_a: Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component is_a: Orphanet:77830 ! Rare genetic odontologic disease [Term] id: Orphanet:180772 name: Rare disease with autism is_a: Orphanet:168778 ! Rare pervasive developmental disorder [Term] id: Orphanet:180776 name: Nonsyndromic diaphragmatic or thoracic malformation is_a: Orphanet:97962 ! Rare surgical thoracic disease [Term] id: Orphanet:180779 name: Syndromic diaphragmatic or thoracic malformation is_a: Orphanet:97962 ! Rare surgical thoracic disease [Term] id: Orphanet:1808 name: Hidrotic ectodermal dysplasia, Christianson-Fourie type xref: ICD10:Q82.8 xref: MESH:C536180 xref: OMIM:601375 xref: UMLS:C1832411 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Christianson-Fourie syndrome" xsd:string [Term] id: Orphanet:180821 name: Gastro-esophageal tumor is_a: Orphanet:101936 ! Rare gastro-esophageal disease is_a: Orphanet:98059 ! Rare digestive tumor [Term] id: Orphanet:180824 name: Pancreatic tumor is_a: Orphanet:101937 ! Rare pancreatic disease is_a: Orphanet:98059 ! Rare digestive tumor [Term] id: Orphanet:1809 name: Hidrotic ectodermal dysplasia, Halal type xref: ICD10:Q82.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Halal-Setton-Wang syndrome" xsd:string [Term] id: Orphanet:181 name: X-linked hypohidrotic ectodermal dysplasia xref: ICD10:Q82.4 xref: MESH:D053358 xref: OMIM:305100 xref: SNOMED CT:239007005 xref: UMLS:C0162359 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:238468 ! Hypohidrotic ectodermal dysplasia property_value: alternative:term "Christ-Siemens-Touraine syndrome" xsd:string property_value: alternative:term "X-linked anhidrotic ectodermal dysplasia" xsd:string property_value: alternative:term "XHED" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "This disease is decribed under the entry Hypohidrotic ectodermal dysplasia." xsd:string [Term] id: Orphanet:1810 name: Autosomal dominant hypohidrotic ectodermal dysplasia xref: ICD10:Q82.4 xref: OMIM:129490 xref: OMIM:614940 xref: SNOMED CT:7731005 xref: UMLS:C0265331 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:238468 ! Hypohidrotic ectodermal dysplasia property_value: alternative:term "AD-HED" xsd:string property_value: alternative:term "Autosomal dominant anhidrotic ectodermal dysplasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "This disease is described under the entry Hypohidrotic ectodermal dysplasia." xsd:string [Term] id: Orphanet:1811 name: Odontomicronychial dysplasia xref: MESH:C537741 xref: OMIM:601319 xref: UMLS:C1832473 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:79370 ! Syndromic nail anomaly [Term] id: Orphanet:181111 name: F-box protein 7 xref: ENSEMBL:ENSG00000100225 xref: GENATLAS:FBXO7 xref: HGNC:13586 xref: OMIM:605648 xref: UNIPROTKB/SWISSPROT:Q9Y3I1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171695 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Parkinsonian-pyramidal syndrome property_value: alternative:term "F-box only protein 7" xsd:string property_value: alternative:term "Fbx" xsd:string property_value: alternative:term "FBX7" xsd:string property_value: alternative:term "PARK15" xsd:string property_value: symbol "FBXO7" xsd:string [Term] id: Orphanet:181116 name: eomesodermin xref: ENSEMBL:ENSG00000163508 xref: GENATLAS:EOMES xref: HGNC:3372 xref: OMIM:604615 xref: UNIPROTKB/SWISSPROT:O95936 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171703 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microcephaly - polymicrogyria - corpus callosum agenesis property_value: alternative:term "eomesodermin (Xenopus laevis) homolog" xsd:string property_value: alternative:term "Eomesodermin homolog (Xenopus laevis)" xsd:string property_value: alternative:term "T-box brain2" xsd:string property_value: alternative:term "TBR2" xsd:string property_value: symbol "EOMES" xsd:string [Term] id: Orphanet:181119 name: SECIS binding protein 2 xref: ENSEMBL:ENSG00000187742 xref: GENATLAS:SECISBP2 xref: HGNC:30972 xref: OMIM:607693 xref: UNIPROTKB/SWISSPROT:Q96T21 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171706 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Short stature-delayed bone age due to thyroid hormone metabolism deficiency property_value: symbol "SECISBP2" xsd:string [Term] id: Orphanet:181121 name: spermatogenesis associated 16 xref: ENSEMBL:ENSG00000144962 xref: GENATLAS:SPATA16 xref: HGNC:29935 xref: OMIM:609856 xref: UNIPROTKB/SWISSPROT:Q9BXB7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171709 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Globozoospermia property_value: alternative:term "NYD-SP12" xsd:string property_value: symbol "SPATA16" xsd:string [Term] id: Orphanet:181124 name: ST3 beta-galactoside alpha-2,3-sialyltransferase 5 xref: ENSEMBL:ENSG00000115525 xref: GENATLAS:ST3GAL5 xref: HGNC:10872 xref: OMIM:604402 xref: UNIPROTKB/SWISSPROT:Q9UNP4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171714 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amish infantile epilepsy syndrome relationship: Orphanet:317343 Orphanet:370938 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Salt-and-pepper syndrome property_value: alternative:term "sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)" xsd:string property_value: alternative:term "SIAT9" xsd:string property_value: alternative:term "SIATGM3S" xsd:string property_value: alternative:term "ST3GalV" xsd:string property_value: symbol "ST3GAL5" xsd:string [Term] id: Orphanet:181135 name: keratin 4 xref: ENSEMBL:ENSG00000170477 xref: GENATLAS:KRT4 xref: HGNC:6441 xref: OMIM:123940 xref: UNIPROTKB/SWISSPROT:P19013 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171723 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! White sponge nevus property_value: alternative:term "CK4" xsd:string property_value: alternative:term "CYK4" xsd:string property_value: alternative:term "cytokeratin 4" xsd:string property_value: alternative:term "K4" xsd:string property_value: alternative:term "keratin, type II cytoskeletal 4" xsd:string property_value: symbol "KRT4" xsd:string [Term] id: Orphanet:181140 name: keratin 13 xref: ENSEMBL:ENSG00000171401 xref: GENATLAS:KRT13 xref: HGNC:6415 xref: OMIM:148065 xref: UNIPROTKB/SWISSPROT:P13646 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171723 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! White sponge nevus property_value: alternative:term "CK13" xsd:string property_value: alternative:term "cytokeratin 13" xsd:string property_value: alternative:term "K13" xsd:string property_value: alternative:term "keratin, type I cytoskeletal 13" xsd:string property_value: alternative:term "MGC161462" xsd:string property_value: alternative:term "MGC3781" xsd:string property_value: symbol "KRT13" xsd:string [Term] id: Orphanet:1812 name: Ectodermal dysplasia - intellectual deficit - central nervous system malformation xref: OMIM:225040 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome [Term] id: Orphanet:181368 name: Insulin-resistance syndrome xref: ICD10:E11 is_a: Orphanet:101952 ! Rare diabetes mellitus is_a: Orphanet:183625 ! Rare genetic diabetes mellitus [Term] id: Orphanet:181371 name: Rare insulin-dependent diabetes mellitus xref: ICD10:E10 is_a: Orphanet:101952 ! Rare diabetes mellitus property_value: alternative:term "Rare type 1 diabetes mellitus" xsd:string [Term] id: Orphanet:181376 name: Rare insulin-independent diabetes mellitus xref: ICD10:E11 is_a: Orphanet:101952 ! Rare diabetes mellitus property_value: alternative:term "Rare type 2 diabetes mellitus" xsd:string [Term] id: Orphanet:181381 name: Other rare diabetes mellitus xref: ICD10:E13 is_a: Orphanet:101952 ! Rare diabetes mellitus [Term] id: Orphanet:181384 name: Rare hypothalamic or pituitary disease is_a: Orphanet:97978 ! Rare endocrine disease [Term] id: Orphanet:181387 name: Syndrome with hypogonadotropic hypogonadism is_a: Orphanet:174590 ! Congenital hypogonadotropic hypogonadism [Term] id: Orphanet:181390 name: Hypogonadotropic hypogonadism associated with other endocrinopathies is_a: Orphanet:174590 ! Congenital hypogonadotropic hypogonadism [Term] id: Orphanet:181393 name: Growth hormone insensitivity syndrome xref: ICD10:E34.3 is_a: Orphanet:183628 ! Rare genetic hypothalamic or pituitary disease is_a: Orphanet:90692 ! Rare endocrine growth disease property_value: alternative:term "GHIS" xsd:string property_value: alternative:term "Short stature due to a defect in growth hormone receptor or post-receptor pathway" xsd:string [Term] id: Orphanet:181396 name: Rare hypothyroidism is_a: Orphanet:101955 ! Rare thyroid disease is_a: Orphanet:183631 ! Rare genetic thyroid disease [Term] id: Orphanet:181399 name: Rare hyperthyroidism xref: ICD10:E05 is_a: Orphanet:101955 ! Rare thyroid disease is_a: Orphanet:183631 ! Rare genetic thyroid disease [Term] id: Orphanet:181402 name: Syndrome with hypoparathyroidism is_a: Orphanet:181405 ! Rare hypoparathyroidism is_a: Orphanet:208593 ! Genetic hypoparathyroidism [Term] id: Orphanet:181405 name: Rare hypoparathyroidism xref: ICD10:E20 is_a: Orphanet:68415 ! Rare parathyroid diseases and phosphocalcic metabolism disorder [Term] id: Orphanet:181408 name: Rare hyperparathyroidism xref: ICD10:E21 is_a: Orphanet:68415 ! Rare parathyroid diseases and phosphocalcic metabolism disorder [Term] id: Orphanet:181412 name: Adrenogenital syndrome xref: ICD10:E25 xref: MEDDRA:10061630 xref: MESH:D047808 xref: SNOMED CT:190511001 xref: SNOMED CT:267395000 xref: SNOMED CT:271077003 xref: UMLS:C0302280 xref: UMLS:C0701163 is_a: Orphanet:101954 ! Rare adrenal disease is_a: Orphanet:183637 ! Rare genetic adrenal disease [Term] id: Orphanet:181415 name: Rare primary hyperaldosteronism xref: ICD10:E26 is_a: Orphanet:101954 ! Rare adrenal disease property_value: alternative:term "Rare primary aldosteronism" xsd:string [Term] id: Orphanet:181419 name: Rare hypoaldosteronism xref: ICD10:E27.4 is_a: Orphanet:101954 ! Rare adrenal disease [Term] id: Orphanet:181422 name: Rare hyperlipidemia xref: ICD10:E78 is_a: Orphanet:101953 ! Rare dyslipidemia [Term] id: Orphanet:181425 name: Major hypertriglyceridemia xref: ICD10:E78.1 is_a: Orphanet:181422 ! Rare hyperlipidemia [Term] id: Orphanet:181428 name: Hyperalphalipoproteinemia xref: ICD10:E78.4 xref: SNOMED CT:238080004 xref: UMLS:C0342883 is_a: Orphanet:181422 ! Rare hyperlipidemia [Term] id: Orphanet:181431 name: Rare hypolipidemia xref: ICD10:E78.6 is_a: Orphanet:101953 ! Rare dyslipidemia [Term] id: Orphanet:181437 name: Rare syndromic dyslipidemia is_a: Orphanet:101953 ! Rare dyslipidemia [Term] id: Orphanet:181441 name: Non-hypogonadotropic hypogonadism is_a: Orphanet:156638 ! Rare genetic endocrine disease is_a: Orphanet:97978 ! Rare endocrine disease [Term] id: Orphanet:1816 name: Ectodermal dysplasia, Berlin type xref: ICD10:Q82.4 xref: OMIM:246500 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Leukomelanoderma - intellectual deficit - hypotrichosis" xsd:string [Term] id: Orphanet:1818 name: Ectodermal dysplasia, tricho-odonto-onychial type xref: ICD10:Q82.4 xref: OMIM:129510 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome [Term] id: Orphanet:181982 name: methylmalonyl CoA epimerase xref: ENSEMBL:ENSG00000124370 xref: GENATLAS:MCEE xref: HGNC:16732 xref: OMIM:608419 xref: REACTOME:Q96PE7 xref: UNIPROTKB/SWISSPROT:Q96PE7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:308425 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency property_value: alternative:term "GLOD2" xsd:string property_value: alternative:term "glyoxalase domain containing 2" xsd:string property_value: symbol "MCEE" xsd:string [Term] id: Orphanet:182 name: Chromomycosis xref: ICD10:B43 xref: MEDDRA:10008803 xref: MESH:D002862 xref: SNOMED CT:187079000 xref: UMLS:C0008582 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163591 ! Rare mycosis property_value: alternative:term "Chromoblastomycosis" xsd:string [Term] id: Orphanet:182040 name: Medullar aplasia xref: ICD10:D61 is_a: Orphanet:108997 ! Rare anemia is_a: Orphanet:183651 ! Rare constitutional anemia [Term] id: Orphanet:182043 name: Rare constitutional hemolytic anemia is_a: Orphanet:183651 ! Rare constitutional anemia is_a: Orphanet:98363 ! Rare hemolytic anemia [Term] id: Orphanet:182047 name: Rare acquired hemolytic anemia xref: ICD10:D59 is_a: Orphanet:98363 ! Rare hemolytic anemia [Term] id: Orphanet:182050 name: MYH9-related thrombocytopenia xref: ICD10:D69.4 xref: OMIM:600208 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:102373 ! Primary glomerular disease relationship: part_of Orphanet:220452 ! Inherited giant platelet disorder [Term] id: Orphanet:182054 name: Rare thrombotic disease of hematologic origin is_a: Orphanet:98429 ! Rare coagulation disorder [Term] id: Orphanet:182058 name: Primary orthostatic hypotension is_a: Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:182061 name: Cerebellar malformation is_a: Orphanet:98519 ! Posterior fossa malformation [Term] id: Orphanet:182064 name: Rare neuroinflammatory or neuroimmunological disease is_a: Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:182067 name: Glial tumor xref: MEDDRA:10018338 xref: MESH:D005910 xref: OMIM:137800 xref: OMIM:607248 xref: OMIM:613028 xref: OMIM:613029 xref: OMIM:613030 xref: OMIM:613031 xref: OMIM:613032 xref: OMIM:613033 xref: SNOMED CT:115240006 xref: SNOMED CT:393564001 xref: UMLS:C0017638 is_a: Orphanet:251558 ! Tumor of the neuroepithelial tissue property_value: alternative:term "Glioma" xsd:string [Term] id: Orphanet:182070 name: Rare neurodegenerative disease is_a: Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:182073 name: Syndromic neurometabolic disease with non-X-linked intellectual deficit is_a: Orphanet:102369 ! Rare intellectual deficit with developmental anomaly is_a: Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:182076 name: Syndromic neurometabolic disease with X-linked intellectual deficit is_a: Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:182079 name: ARX-related epileptic encephalopathy is_a: Orphanet:166472 ! Monogenic disease with epilepsy [Term] id: Orphanet:182083 name: Channelopathy with epilepsy is_a: Orphanet:166472 ! Monogenic disease with epilepsy [Term] id: Orphanet:182086 name: Acquired peripheral neuropathy is_a: Orphanet:98496 ! Rare peripheral neuropathy [Term] id: Orphanet:182090 name: Pulmonary arterial hypertension xref: MEDDRA:10064911 xref: MESH:C536282 xref: SNOMED CT:26174007 xref: UMLS:C0152171 is_a: Orphanet:71198 ! Rare pulmonary hypertension property_value: alternative:term "PAH" xsd:string [Term] id: Orphanet:182095 name: Interstitial lung disease xref: MEDDRA:10022611 xref: MESH:D017563 xref: SNOMED CT:233703007 xref: UMLS:C0206062 is_a: Orphanet:101944 ! Rare pulmonary disease property_value: alternative:term "ILD" xsd:string [Term] id: Orphanet:182098 name: Pneumoconiosis xref: MEDDRA:10035653 xref: MESH:D011009 xref: SNOMED CT:40122008 xref: UMLS:C0032273 is_a: Orphanet:264740 ! Primary interstitial lung disease specific to adulthood [Term] id: Orphanet:182101 name: Idiopathic eosinophilic pneumonia xref: ICD10:J82 is_a: Orphanet:264935 ! Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder [Term] id: Orphanet:182104 name: Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease is_a: Orphanet:264949 ! Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease property_value: alternative:term "CTD-ILD" xsd:string property_value: alternative:term "Secondary ILD in childhood and adulthood associated with a connective tissue disease" xsd:string [Term] id: Orphanet:182108 name: Thoracic malformation is_a: Orphanet:97957 ! Respiratory or thoracic malformation [Term] id: Orphanet:182111 name: Respiratory malformation is_a: Orphanet:97957 ! Respiratory or thoracic malformation [Term] id: Orphanet:182114 name: Rare urogenital tumor is_a: Orphanet:101433 ! Rare urogenital disease is_a: Orphanet:98057 ! Rare tumor [Term] id: Orphanet:182117 name: Nonsyndromic urogenital tract malformation of female is_a: Orphanet:165704 ! Nonsyndromic urogenital tract malformation [Term] id: Orphanet:182121 name: Nonsyndromic urogenital tract malformation of male is_a: Orphanet:165704 ! Nonsyndromic urogenital tract malformation [Term] id: Orphanet:182124 name: Nonsyndromic urogenital tract malformation of male and female is_a: Orphanet:165704 ! Nonsyndromic urogenital tract malformation [Term] id: Orphanet:182127 name: Extragonadal germinoma xref: MEDDRA:10018207 xref: MESH:D018237 xref: SNOMED CT:28307001 xref: UMLS:C0206660 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:363579 ! Extragonadal germ cell tumor [Term] id: Orphanet:182130 name: Tumor of endocrine glands is_a: Orphanet:98057 ! Rare tumor [Term] id: Orphanet:1822 name: Dysplasia epiphysealis hemimelica xref: ICD10:Q74.8 xref: MESH:C537997 xref: OMIM:127800 xref: SNOMED CT:205480005 xref: UMLS:C0432282 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components property_value: alternative:term "Trevor disease" xsd:string [Term] id: Orphanet:182214 name: Rare inflammatory eye disease is_a: Orphanet:101949 ! Rare acquired eye disease [Term] id: Orphanet:182222 name: Rare systemic disease is_a: Orphanet:98023 ! Rare systemic or rheumatologic disease [Term] id: Orphanet:182228 name: Systemic autoimmune disease is_a: Orphanet:182222 ! Rare systemic disease [Term] id: Orphanet:182231 name: Rare rheumatologic disease is_a: Orphanet:98023 ! Rare systemic or rheumatologic disease [Term] id: Orphanet:1824 name: Lowry-Wood syndrome xref: ICD10:Q87.5 xref: MEDDRA:10062600 xref: MESH:C537038 xref: OMIM:226960 xref: UMLS:C0796021 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93429 ! Multiple epiphyseal dysplasia and pseudoachondroplasia property_value: alternative:term "Epiphyseal dysplasia - microcephaly - nystagmus" xsd:string [Term] id: Orphanet:1825 name: Epiphyseal dysplasia - hearing loss - dysmorphism xref: ICD10:Q87.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Finucane-Kurtz-Scott syndrome" xsd:string [Term] id: Orphanet:182553 name: chimerin 1 xref: ENSEMBL:ENSG00000128656 xref: GENATLAS:CHN1 xref: HGNC:1943 xref: OMIM:118423 xref: REACTOME:P15882 xref: UNIPROTKB/SWISSPROT:P15882 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:233 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Duane retraction syndrome property_value: alternative:term "ARHGAP2" xsd:string property_value: alternative:term "chimaerin 1" xsd:string property_value: alternative:term "Chimerin (chimaerin) 1" xsd:string property_value: alternative:term "Chimerin 1 (GTPase-activating protein, rho, 2)" xsd:string property_value: alternative:term "CHN" xsd:string property_value: alternative:term "Duane retraction syndrome 2" xsd:string property_value: alternative:term "DURS2" xsd:string property_value: alternative:term "n-chimerin" xsd:string property_value: alternative:term "RhoGAP2" xsd:string property_value: symbol "CHN1" xsd:string [Term] id: Orphanet:1826 name: Frontometaphyseal dysplasia xref: ICD10:Q78.5 xref: MESH:C538064 xref: OMIM:305620 xref: SNOMED CT:62803002 xref: UMLS:C0265293 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:364541 ! Fronto-otopalatodigital syndrome relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:1827 name: Acromelic frontonasal dysplasia xref: ICD10:Q75.8 xref: MESH:C535657 xref: OMIM:603671 xref: UMLS:C0796182 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:364574 ! Acrofacial dysostosis property_value: alternative:term "Toriello syndrome" xsd:string [Term] id: Orphanet:182734 name: Genetic urticaria is_a: Orphanet:68346 ! Rare genetic skin disease [Term] id: Orphanet:183 name: Eosinophilic granulomatosis with polyangiitis xref: ICD10:M30.1 xref: MEDDRA:10048594 xref: MESH:C531653 xref: MESH:D015267 xref: SNOMED CT:82275008 xref: UMLS:C0008728 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:156152 ! Anti-neutrophil cytoplasmic antibody-associated vasculitis relationship: part_of Orphanet:209007 ! Systemic inflammatory disease associated with an acquired peripheral neuropathy relationship: part_of Orphanet:324767 ! Non-familial rare disease with dilated cardiomyopathy relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "Churg-Strauss syndrome" xsd:string property_value: alternative:term "EGPA" xsd:string property_value: alternative:term "Granulomatous allergic angiitis" xsd:string [Term] id: Orphanet:1830 name: Schimke immuno-osseous dysplasia xref: MEDDRA:10048699 xref: MESH:C536629 xref: OMIM:242900 xref: UMLS:C0877024 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102373 ! Primary glomerular disease relationship: part_of Orphanet:169349 ! Immuno-osseous dysplasia relationship: part_of Orphanet:180766 ! Malformative syndrome with dentinogenesis imperfecta relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia property_value: alternative:term "Schimke syndrome" xsd:string property_value: alternative:term "Spondyloepiphyseal dysplasia - nephrotic syndrome" xsd:string [Term] id: Orphanet:1831 name: De Hauwere syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_782 with label: Axenfeld-Rieger syndrome" xsd:string [Term] id: Orphanet:1832 name: Lethal osteosclerotic bone dysplasia xref: ICD10:Q78.2 xref: OMIM:259775 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93443 ! Neonatal osteosclerotic dysplasia property_value: alternative:term "Raine syndrome" xsd:string [Term] id: Orphanet:1834 name: Axial mesodermal dysplasia spectrum xref: ICD10:Q87.8 xref: MESH:C537790 xref: UMLS:C2931613 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Blastogenesis defect" xsd:string property_value: alternative:term "Russell-Weaver-Bull syndrome" xsd:string [Term] id: Orphanet:183422 name: Polymalformative genetic syndrome with increased risk of developing cancer is_a: Orphanet:140162 ! Inherited cancer-predisposing syndrome property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases." xsd:string [Term] id: Orphanet:183426 name: Genetic epidermal disease is_a: Orphanet:68346 ! Rare genetic skin disease [Term] id: Orphanet:183435 name: Inherited ichthyosis is_a: Orphanet:183426 ! Genetic epidermal disease is_a: Orphanet:79354 ! Ichthyosis property_value: alternative:term "Genetic ichthyosis" xsd:string [Term] id: Orphanet:183438 name: Genetic erythrokeratoderma is_a: Orphanet:183426 ! Genetic epidermal disease [Term] id: Orphanet:183441 name: Genetic acrokeratoderma is_a: Orphanet:183426 ! Genetic epidermal disease [Term] id: Orphanet:183444 name: Genetic porokeratosis is_a: Orphanet:183426 ! Genetic epidermal disease [Term] id: Orphanet:183447 name: Genetic epidermal appendage anomaly is_a: Orphanet:68346 ! Rare genetic skin disease [Term] id: Orphanet:183450 name: Genetic hair anomaly is_a: Orphanet:183447 ! Genetic epidermal appendage anomaly [Term] id: Orphanet:183454 name: Genetic nail anomaly is_a: Orphanet:183447 ! Genetic epidermal appendage anomaly [Term] id: Orphanet:183460 name: Genetic sebaceus gland anomaly is_a: Orphanet:183447 ! Genetic epidermal appendage anomaly [Term] id: Orphanet:183463 name: Genetic pigmentation anomaly of the skin is_a: Orphanet:68346 ! Rare genetic skin disease [Term] id: Orphanet:183466 name: Genetic hyperpigmentation of the skin is_a: Orphanet:183463 ! Genetic pigmentation anomaly of the skin [Term] id: Orphanet:183469 name: Genetic hypopigmentation of the skin is_a: Orphanet:183463 ! Genetic pigmentation anomaly of the skin [Term] id: Orphanet:183472 name: Genetic dermis disorder is_a: Orphanet:68346 ! Rare genetic skin disease [Term] id: Orphanet:183478 name: Genetic skin vascular disease is_a: Orphanet:183472 ! Genetic dermis disorder [Term] id: Orphanet:183481 name: Genetic mixed dermis disorder is_a: Orphanet:183472 ! Genetic dermis disorder [Term] id: Orphanet:183484 name: Genetic subcutaneous tissue disease is_a: Orphanet:68346 ! Rare genetic skin disease [Term] id: Orphanet:183487 name: Genetic skin tumor is_a: Orphanet:68336 ! Rare genetic tumor [Term] id: Orphanet:183490 name: Genetic photodermatosis is_a: Orphanet:68346 ! Rare genetic skin disease property_value: alternative:term "Genetic skin photosensitivity" xsd:string property_value: alternative:term "Photogenodermatosis" xsd:string property_value: alternative:term "Photogénodermatose" xsd:string [Term] id: Orphanet:183494 name: Genetic immune deficiency with skin involvement is_a: Orphanet:68346 ! Rare genetic skin disease [Term] id: Orphanet:183497 name: Genetic neuromuscular disease is_a: Orphanet:71859 ! Rare genetic neurological disease [Term] id: Orphanet:183500 name: Genetic neurodegenerative disease is_a: Orphanet:71859 ! Rare genetic neurological disease [Term] id: Orphanet:183503 name: Genetic central nervous system and retinal vascular disease is_a: Orphanet:71859 ! Rare genetic neurological disease [Term] id: Orphanet:183506 name: Genetic central nervous system malformation is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis is_a: Orphanet:71859 ! Rare genetic neurological disease [Term] id: Orphanet:183509 name: Rare genetic headache is_a: Orphanet:71859 ! Rare genetic neurological disease [Term] id: Orphanet:183512 name: Rare genetic epilepsy is_a: Orphanet:71859 ! Rare genetic neurological disease [Term] id: Orphanet:183515 name: Rare genetic medullar disease is_a: Orphanet:71859 ! Rare genetic neurological disease [Term] id: Orphanet:183518 name: Rare hereditary ataxia is_a: Orphanet:102002 ! Rare ataxia is_a: Orphanet:71859 ! Rare genetic neurological disease [Term] id: Orphanet:183521 name: Rare genetic movement disorder is_a: Orphanet:71859 ! Rare genetic neurological disease [Term] id: Orphanet:183524 name: Rare genetic bone disease is_a: Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:183527 name: Genetic bone tumor is_a: Orphanet:68336 ! Rare genetic tumor [Term] id: Orphanet:183530 name: Rare genetic developmental defect during embryogenesis is_a: Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:183533 name: Genetic multiple congenital anomalies/dysmorphic syndrome is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis [Term] id: Orphanet:183539 name: Genetic renal or urinary tract malformation is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis is_a: Orphanet:98056 ! Rare genetic renal disease [Term] id: Orphanet:183542 name: Genetic cranial malformation is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis [Term] id: Orphanet:183545 name: Genetic digestive tract malformation is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis [Term] id: Orphanet:183548 name: Genetic visceral malformation of the liver, biliary tract, pancreas or spleen is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis [Term] id: Orphanet:183554 name: Genetic respiratory or mediastinal malformation is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis [Term] id: Orphanet:183557 name: Genetic developmental defect of the eye is_a: Orphanet:101435 ! Rare genetic eye disease is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis property_value: alternative:term "Anomalie du développement des yeux d'origine génétique" xsd:string [Term] id: Orphanet:183570 name: Genetic malformation syndrome with short stature is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis [Term] id: Orphanet:183573 name: Genetic overgrowth/obesity syndrome is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis [Term] id: Orphanet:183576 name: Genetic branchial arch or oral-acral syndrome is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis [Term] id: Orphanet:183580 name: Genetic malformation syndrome with odontal and/or periodontal component is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis [Term] id: Orphanet:183583 name: Genetic head and neck malformation is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis [Term] id: Orphanet:183586 name: Genetic glomerular disease is_a: Orphanet:98056 ! Rare genetic renal disease [Term] id: Orphanet:183589 name: Genetic thrombotic microangiopathy is_a: Orphanet:98056 ! Rare genetic renal disease [Term] id: Orphanet:183592 name: Genetic renal tubular disease is_a: Orphanet:98056 ! Rare genetic renal disease [Term] id: Orphanet:183595 name: Genetic renal tumor is_a: Orphanet:68336 ! Rare genetic tumor [Term] id: Orphanet:183598 name: Rare genetic palpebral, lacrimal system and conjunctival disease is_a: Orphanet:101435 ! Rare genetic eye disease [Term] id: Orphanet:1836 name: Mesomelic dysplasia, Kantaputra type xref: ICD10:Q78.8 xref: MESH:C535547 xref: OMIM:156232 xref: OMIM:613681 xref: UMLS:C1835009 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93438 ! Mesomelic and rhizo-mesomelic dysplasia property_value: alternative:term "Kantaputra mesomelic dysplasia" xsd:string property_value: alternative:term "MDK" xsd:string property_value: alternative:term "Mesomelic dysplasia, Thai type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature." xsd:string [Term] id: Orphanet:183601 name: Rare genetic refraction anomaly is_a: Orphanet:101435 ! Rare genetic eye disease [Term] id: Orphanet:183607 name: Genetic lens and zonula anomaly is_a: Orphanet:101435 ! Rare genetic eye disease [Term] id: Orphanet:183616 name: Genetic neuro-ophthalmological disease is_a: Orphanet:101435 ! Rare genetic eye disease [Term] id: Orphanet:183619 name: Genetic eye tumor is_a: Orphanet:68336 ! Rare genetic tumor [Term] id: Orphanet:183622 name: Genetic respiratory malformation is_a: Orphanet:156610 ! Rare genetic respiratory disease [Term] id: Orphanet:183625 name: Rare genetic diabetes mellitus is_a: Orphanet:156638 ! Rare genetic endocrine disease [Term] id: Orphanet:183628 name: Rare genetic hypothalamic or pituitary disease is_a: Orphanet:156638 ! Rare genetic endocrine disease [Term] id: Orphanet:183631 name: Rare genetic thyroid disease is_a: Orphanet:156638 ! Rare genetic endocrine disease [Term] id: Orphanet:183634 name: Rare genetic parathyroid disease and phosphocalcic metabolism disorder is_a: Orphanet:156638 ! Rare genetic endocrine disease [Term] id: Orphanet:183637 name: Rare genetic adrenal disease is_a: Orphanet:156638 ! Rare genetic endocrine disease [Term] id: Orphanet:183643 name: Genetic polyendocrinopathy is_a: Orphanet:156638 ! Rare genetic endocrine disease [Term] id: Orphanet:183651 name: Rare constitutional anemia is_a: Orphanet:158300 ! Rare genetic hematologic disease [Term] id: Orphanet:183654 name: Rare genetic coagulation disorder is_a: Orphanet:158300 ! Rare genetic hematologic disease [Term] id: Orphanet:183660 name: Severe combined immunodeficiency xref: ICD10:D81.0 xref: ICD10:D81.1 xref: ICD10:D81.2 xref: ICD10:D81.3 xref: MEDDRA:10069566 xref: MESH:D016511 xref: SNOMED CT:31323000 xref: UMLS:C0085110 is_a: Orphanet:101972 ! Combined T and B cell immunodeficiency relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "SCID" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID) (see these terms). Both of these groups include several forms, with or without natural killer (NK) cells." xsd:string [Term] id: Orphanet:183663 name: Hyper-IgM syndrome with susceptibility to opportunistic infections xref: ICD10:D80.5 xref: OMIM:308230 xref: OMIM:606843 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency relationship: part_of Orphanet:331240 ! Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells property_value: alternative:term "HIGM with susceptibility to opportunistic infections" xsd:string [Term] id: Orphanet:183666 name: Hyper-IgM syndrome without susceptibility to opportunistic infections xref: ICD10:D80.5 xref: OMIM:605258 xref: OMIM:608106 xref: OMIM:608184 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:331240 ! Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells property_value: alternative:term "HIGM without susceptibility to opportunistic infections" xsd:string [Term] id: Orphanet:183669 name: Agammaglobulinemia xref: MESH:D000361 xref: SNOMED CT:119249001 xref: UMLS:C0001768 is_a: Orphanet:101977 ! Immunodeficiency predominantly affecting antibody production [Term] id: Orphanet:183675 name: Recurrent infections associated with rare immunoglobulin isotypes deficiency xref: OMIM:614102 is_a: Orphanet:331232 ! Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "IgG subclass deficiency with IgA subclass deficiency" xsd:string property_value: alternative:term "Isolated IgG subclass deficiency" xsd:string property_value: alternative:term "Kappa-chain deficiency" xsd:string property_value: alternative:term "Selective IgG subclass deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections." xsd:string [Term] id: Orphanet:183678 name: Hermansky-Pudlak syndrome with neutropenia xref: ICD10:E70.3 xref: OMIM:608233 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:331184 ! Constitutional neutropenia with extra-haematopoietic manifestations relationship: part_of Orphanet:331249 ! Immunodeficiency syndrome with hypopigmentation relationship: part_of Orphanet:79430 ! Hermansky-Pudlak syndrome relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy property_value: alternative:term "Hermansky-Pudlak syndrome type 2" xsd:string property_value: alternative:term "HPS2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." xsd:string [Term] id: Orphanet:183681 name: Functional neutrophil defect xref: ICD10:D71 is_a: Orphanet:101988 ! Primary immunodeficiency due to a defect in innate immunity [Term] id: Orphanet:1837 name: Ulna metaphyseal dysplasia syndrome xref: ICD10:Q78.5 xref: MESH:C536935 xref: OMIM:191420 xref: UMLS:C1860615 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:93430 ! Multiple metaphyseal dysplasia property_value: alternative:term "Rosenberg-Lohr syndrome" xsd:string [Term] id: Orphanet:183707 name: Neutrophil immunodeficiency syndrome xref: ICD10:D71 xref: OMIM:608203 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183681 ! Functional neutrophil defect property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas." xsd:string [Term] id: Orphanet:183710 name: Genetic susceptibility to infections due to particular pathogens xref: ICD10:D84.8 is_a: Orphanet:101988 ! Primary immunodeficiency due to a defect in innate immunity [Term] id: Orphanet:183713 name: Pyogenic bacterial infections due to MyD88 deficiency xref: ICD10:D84.8 xref: OMIM:612260 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183710 ! Genetic susceptibility to infections due to particular pathogens property_value: alternative:term "MyD88 deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease." xsd:string [Term] id: Orphanet:183731 name: Rare genetic gynecological and obstetrical diseases is_a: Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:183734 name: Genetic gynecological tumor is_a: Orphanet:68336 ! Rare genetic tumor [Term] id: Orphanet:183757 name: Rare genetic intellectual deficit is_a: Orphanet:71859 ! Rare genetic neurological disease [Term] id: Orphanet:183763 name: Rare genetic intellectual deficit with developmental anomaly is_a: Orphanet:183757 ! Rare genetic intellectual deficit [Term] id: Orphanet:183770 name: Rare genetic immune disease is_a: Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:183879 name: forkhead box N1 xref: ENSEMBL:ENSG00000109101 xref: GENATLAS:FOXN1 xref: HGNC:12765 xref: OMIM:600838 xref: UNIPROTKB/SWISSPROT:O15353 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169095 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe T-cell immunodeficiency - congenital alopecia - nail dystrophy property_value: alternative:term "FKHL20" xsd:string property_value: alternative:term "RONU" xsd:string property_value: alternative:term "Rowett nude" xsd:string property_value: alternative:term "WHN" xsd:string property_value: alternative:term "winged-helix nude" xsd:string property_value: symbol "FOXN1" xsd:string [Term] id: Orphanet:183883 name: mannosyl-oligosaccharide glucosidase xref: ENSEMBL:ENSG00000115275 xref: GENATLAS:GCS1 xref: HGNC:24862 xref: OMIM:601336 xref: REACTOME:Q13724 xref: UNIPROTKB/SWISSPROT:Q13724 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79330 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! GCS1-CDG property_value: alternative:term "CWH41" xsd:string property_value: alternative:term "DER7" xsd:string property_value: alternative:term "GCS1" xsd:string property_value: alternative:term "glucosidase I" xsd:string property_value: alternative:term "processing A-glucosidase I" xsd:string property_value: symbol "MOGS" xsd:string [Term] id: Orphanet:183886 name: diffuse panbronchiolitis critical region 1 xref: ENSEMBL:ENSG00000168631 xref: GENATLAS:DPCR1 xref: HGNC:21666 xref: OMIM:613928 xref: UNIPROTKB/SWISSPROT:Q3MIW9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:171700 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Diffuse panbronchiolitis property_value: alternative:term "bCX105N19.6" xsd:string property_value: alternative:term "PBLT" xsd:string property_value: symbol "DPCR1" xsd:string [Term] id: Orphanet:183890 name: CCAAT/enhancer binding protein (C/EBP), epsilon xref: ENSEMBL:ENSG00000092067 xref: GENATLAS:CEBPE xref: HGNC:1836 xref: OMIM:600749 xref: UNIPROTKB/SWISSPROT:Q15744 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169142 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Recurrent infection due to specific granule deficiency property_value: alternative:term "CRP1" xsd:string property_value: symbol "CEBPE" xsd:string [Term] id: Orphanet:183893 name: transaldolase 1 xref: ENSEMBL:ENSG00000177156 xref: GENATLAS:TALDO1 xref: HGNC:11559 xref: OMIM:602063 xref: REACTOME:P37837 xref: UNIPROTKB/SWISSPROT:P37837 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101028 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Transaldolase deficiency property_value: symbol "TALDO1" xsd:string [Term] id: Orphanet:183895 name: ADAMTS-like 2 xref: ENSEMBL:ENSG00000197859 xref: GENATLAS:ADAMTSL2 xref: HGNC:14631 xref: OMIM:612277 xref: UNIPROTKB/SWISSPROT:Q86TH1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2623 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Geleophysic dysplasia property_value: alternative:term "KIAA0605" xsd:string property_value: symbol "ADAMTSL2" xsd:string [Term] id: Orphanet:1839 name: Hereditary mucoepithelial dysplasia xref: OMIM:158310 xref: SNOMED CT:403442005 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183494 ! Genetic immune deficiency with skin involvement relationship: part_of Orphanet:79391 ! Immune deficiency with skin involvement property_value: alternative:term "Urban-Schosser-Spohn syndrome" xsd:string [Term] id: Orphanet:183907 name: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa xref: ENSEMBL:ENSG00000174886 xref: GENATLAS:NDUFA11 xref: HGNC:20371 xref: OMIM:612638 xref: REACTOME:Q86Y39 xref: UNIPROTKB/SWISSPROT:Q86Y39 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency property_value: alternative:term "B14.7" xsd:string property_value: alternative:term "complex I B14.7 subunit" xsd:string property_value: symbol "NDUFA11" xsd:string [Term] id: Orphanet:183913 name: endothelial PAS domain protein 1 xref: ENSEMBL:ENSG00000116016 xref: GENATLAS:EPAS1 xref: HGNC:3374 xref: OMIM:603349 xref: REACTOME:Q99814 xref: UNIPROTKB/SWISSPROT:Q99814 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:247511 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant secondary polycythemia relationship: Orphanet:317344 Orphanet:276624 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sporadic pheochromocytoma relationship: Orphanet:317344 Orphanet:276627 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sporadic secreting paraganglioma relationship: Orphanet:317344 Orphanet:324299 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple paragangliomas associated with polycythemia property_value: alternative:term "bHLHe73" xsd:string property_value: alternative:term "HIF-1 alpha-like factor" xsd:string property_value: alternative:term "HIF2A" xsd:string property_value: alternative:term "HLF" xsd:string property_value: alternative:term "MOP2" xsd:string property_value: alternative:term "PASD2" xsd:string property_value: symbol "EPAS1" xsd:string [Term] id: Orphanet:183924 name: mitochondrially encoded tRNA leucine 2 (CUN) xref: ENSEMBL:ENSG00000210191 xref: GENATLAS:MT-TL2 xref: HGNC:7491 xref: OMIM:590055 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2022 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Endomyocardial fibroelastosis relationship: Orphanet:317343 Orphanet:663 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited progressive external ophthalmoplegia property_value: alternative:term "MTTL2" xsd:string property_value: alternative:term "tRNA leucine 2 (CUN)" xsd:string property_value: alternative:term "TRNL2" xsd:string property_value: symbol "MT-TL2" xsd:string [Term] id: Orphanet:183928 name: nucleoporin 155kDa xref: ENSEMBL:ENSG00000113569 xref: GENATLAS:NUP155 xref: HGNC:8063 xref: OMIM:606694 xref: REACTOME:O75694 xref: UNIPROTKB/SWISSPROT:O75694 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial atrial fibrillation property_value: alternative:term "KIAA0791" xsd:string property_value: alternative:term "N155" xsd:string property_value: alternative:term "nucleoporin 155kD" xsd:string property_value: symbol "NUP155" xsd:string [Term] id: Orphanet:183933 name: wingless-type MMTV integration site family, member 10B xref: ENSEMBL:ENSG00000169884 xref: GENATLAS:WNT10B xref: HGNC:12775 xref: OMIM:601906 xref: REACTOME:O00744 xref: UNIPROTKB/SWISSPROT:O00744 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2440 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Split hand-split foot malformation property_value: alternative:term "SHFM6" xsd:string property_value: alternative:term "WNT-12" xsd:string property_value: symbol "WNT10B" xsd:string [Term] id: Orphanet:183938 name: dynein, cytoplasmic 2, heavy chain 1 xref: ENSEMBL:ENSG00000187240 xref: GENATLAS:DYNC2H1 xref: HGNC:2962 xref: OMIM:603297 xref: REACTOME:Q8NCM8 xref: UNIPROTKB/SWISSPROT:Q8NCM8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:474 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Jeune syndrome relationship: Orphanet:317343 Orphanet:93269 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Short rib-polydactyly syndrome, Majewski type relationship: Orphanet:317343 Orphanet:93271 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Short rib-polydactyly syndrome, Verma-Naumoff type property_value: alternative:term "DHC1b" xsd:string property_value: alternative:term "DHC2" xsd:string property_value: alternative:term "DNCH2" xsd:string property_value: alternative:term "DYH1B" xsd:string property_value: alternative:term "dynein, cytoplasmic, heavy polypeptide 2" xsd:string property_value: alternative:term "hdhc11" xsd:string property_value: symbol "DYNC2H1" xsd:string [Term] id: Orphanet:184 name: Cherubism xref: ICD10:K10.8 xref: MESH:D002636 xref: OMIM:118400 xref: SNOMED CT:76098004 xref: UMLS:C0008029 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components property_value: alternative:term "CRBM" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases." xsd:string [Term] id: Orphanet:1842 name: Bone dysplasia, lethal Holmgren type xref: ICD10:Q77.8 xref: OMIM:211120 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93465 ! Lethal chondrodysplasia property_value: alternative:term "Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Bone dysplasia lethal Holmgren type (BDLH) is a lethal variant of bone dysplasia (see this term) characterized at birth by low birth weight, very short arms and legs, especially in the proximal parts. The femora are bent inwards and the thorax is very narrow." xsd:string [Term] id: Orphanet:1844 name: Bone dysplasia, Azouz type xref: ICD10:Q78.4 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components [Term] id: Orphanet:1848 name: Bilateral renal agenesis xref: ICD10:Q60.1 xref: MESH:C536482 xref: OMIM:191830 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:357506 ! Genetic nonsyndromic renal or urinary tract malformation relationship: part_of Orphanet:93546 ! Nonsyndromic renal or urinary tract malformation [Term] id: Orphanet:1849 name: Infundibulopelvic stenosis - multicystic kidney xref: OMIM:600989 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation [Term] id: Orphanet:185 name: Scimitar syndrome xref: ICD10:Q26.8 xref: MEDDRA:10051951 xref: MESH:D012587 xref: SNOMED CT:39905002 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98724 ! Congenital great vessels anomaly relationship: part_of Orphanet:98729 ! Congenital pulmonary veins anomaly property_value: alternative:term "Congenital pulmonary venolobar syndrome" xsd:string property_value: alternative:term "Epibronchial right pulmonary artery syndrome" xsd:string property_value: alternative:term "Halasz syndrome" xsd:string property_value: alternative:term "Hypogenetic lung syndrome" xsd:string [Term] id: Orphanet:1850 name: Renal dysplasia - megalocystis - sirenomelia xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Selig-Benacerraf-Greene syndrome" xsd:string [Term] id: Orphanet:1851 name: Multicystic renal dysplasia xref: ICD10:Q61.4 xref: MESH:D021782 xref: OMIM:143400 xref: OMIM:601331 xref: SNOMED CT:204962002 xref: UMLS:C0345335 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:357506 ! Genetic nonsyndromic renal or urinary tract malformation relationship: part_of Orphanet:93546 ! Nonsyndromic renal or urinary tract malformation [Term] id: Orphanet:1852 name: X-linked retinal dysplasia xref: ICD10:Q14.1 xref: OMIM:312550 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:71862 ! Retinal dystrophy [Term] id: Orphanet:1855 name: Spondyloenchondrodysplasia xref: ICD10:Q77.7 xref: MESH:C535782 xref: OMIM:271550 xref: SNOMED CT:254079002 xref: SNOMED CT:389268008 xref: UMLS:C0432222 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:169355 ! Immunodeficiency syndrome with autoimmunity relationship: part_of Orphanet:254 ! Spondylometaphyseal dysplasia property_value: alternative:term "SPENCD" xsd:string property_value: alternative:term "Spondyloenchondromatosis" xsd:string property_value: alternative:term "Spondylometaphyseal dysplasia with enchondromatous changes" xsd:string [Term] id: Orphanet:1856 name: Spondyloperipheral dysplasia - short ulna xref: ICD10:Q77.7 xref: MESH:C535799 xref: OMIM:271700 xref: UMLS:C0796173 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:93421 ! Type 2 collagen-related bone disorder [Term] id: Orphanet:1858 name: Skeletal dysplasia - epilepsy - short stature xref: ICD10:Q87.5 xref: OMIM:601187 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Gurrieri-Sammito-Bellussi syndrome" xsd:string [Term] id: Orphanet:186 name: Primary biliary cirrhosis xref: ICD10:K74.3 xref: MEDDRA:10004661 xref: MEDDRA:10019137 xref: OMIM:109720 xref: OMIM:613007 xref: OMIM:613008 xref: OMIM:614220 xref: OMIM:614221 xref: SNOMED CT:31712002 xref: UMLS:C0008312 xref: UMLS:C0859942 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:101941 ! Rare biliary tract disease property_value: alternative:term "Hanot syndrome" xsd:string [Term] id: Orphanet:1860 name: Thanatophoric dysplasia type 1 xref: ICD10:Q77.1 xref: OMIM:187600 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2655 ! Thanatophoric dysplasia property_value: alternative:term "TD1" xsd:string property_value: alternative:term "Thanatophoric dwarfism type 1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly." xsd:string [Term] id: Orphanet:1861 name: Thoracic dysplasia-hydrocephalus syndrome xref: ICD10:Q87.8 xref: OMIM:273730 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:182108 ! Thoracic malformation [Term] id: Orphanet:1864 name: Congenital valvular dysplasia xref: ICD10:Q24.8 xref: OMIM:314400 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:271853 ! Genetic cardiac anomaly relationship: part_of Orphanet:98721 ! Congenital tricuspid malformation [Term] id: Orphanet:1865 name: Dyssegmental dysplasia, Silverman-Handmaker type xref: ICD10:Q77.7 xref: OMIM:224410 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:93424 ! Perlecan-related bone disorder [Term] id: Orphanet:1866 name: Focal, segmental or multifocal dystonia xref: ICD10:G24.3 xref: ICD10:G24.4 xref: ICD10:G24.5 xref: ICD10:G24.8 xref: SNOMED CT:445006008 is_a: Orphanet:156159 ! Isolated dystonia relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Focal Dystonia is a rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions." xsd:string [Term] id: Orphanet:1867 name: Bullous dystrophy, macular type xref: ICD10:Q81.8 xref: OMIM:302000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79359 ! Other epidermis disorder relationship: part_of Orphanet:79360 ! Other genetic epidermal disease relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:187 name: Citrullinemia xref: ICD10:E72.2 xref: MESH:D020159 xref: SNOMED CT:398630005 xref: SNOMED CT:398680004 xref: UMLS:C0175683 is_a: Orphanet:79167 ! Disorder of urea cycle metabolism and ammonia detoxification relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:1871 name: Progressive cone dystrophy xref: ICD10:H35.5 xref: OMIM:180020 xref: OMIM:300085 xref: OMIM:303700 xref: OMIM:304030 xref: OMIM:602093 xref: OMIM:613093 xref: SNOMED CT:267613004 xref: UMLS:C0271092 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98664 ! Genetic macular dystrophy property_value: alternative:term "Cone dystrophy" xsd:string [Term] id: Orphanet:1872 name: Cone rod dystrophy xref: ICD10:H35.5 xref: OMIM:120970 xref: OMIM:300476 xref: OMIM:300834 xref: OMIM:304020 xref: OMIM:600624 xref: OMIM:600977 xref: OMIM:601777 xref: OMIM:602093 xref: OMIM:603649 xref: OMIM:604116 xref: OMIM:604393 xref: OMIM:605549 xref: OMIM:608194 xref: OMIM:610283 xref: OMIM:610381 xref: OMIM:610478 xref: OMIM:612657 xref: OMIM:612775 xref: OMIM:613660 xref: OMIM:614500 xref: OMIM:615163 xref: OMIM:615374 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy [Term] id: Orphanet:1873 name: Jalili syndrome xref: ICD10:H35.5 xref: OMIM:217080 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component property_value: alternative:term "Cone rod dystrophy - amelogenesis imperfecta" xsd:string [Term] id: Orphanet:1875 name: Congenital muscular dystrophy - infantile cataract - hypogonadism xref: OMIM:254000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:97242 ! Congenital muscular dystrophy property_value: alternative:term "Bassoe syndrome" xsd:string [Term] id: Orphanet:1876 name: Oculogastrointestinal muscular dystrophy xref: ICD10:G71.0 xref: OMIM:277320 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:104009 ! Congenital intestinal motility disorder relationship: part_of Orphanet:98578 ! Ptosis property_value: alternative:term "Visceral myopathy - familial external ophthalmoplegia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." xsd:string [Term] id: Orphanet:1877 name: Muscular dystrophy - white matter spongiosis xref: ICD10:G71.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:206634 ! Genetic skeletal muscle disease [Term] id: Orphanet:1878 name: Autosomal recessive limb-girdle muscular dystrophy type 2H xref: ICD10:G71.0 xref: OMIM:254110 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102015 ! Autosomal recessive limb-girdle muscular dystrophy relationship: part_of Orphanet:207107 ! Qualitative or quantitative defects of TRIM32 property_value: alternative:term "LGMD2H" xsd:string property_value: alternative:term "Limb-girdle muscular dystrophy due to TRIM32 deficiency" xsd:string property_value: alternative:term "Sarcotubular myopathy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild form of limb girdle muscle dystrophy (LGMD; see this term) characterized by proximal muscle weakness and facial muscle wasting." xsd:string [Term] id: Orphanet:1879 name: Melorheostosis with osteopoikilosis xref: ICD10:M85.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:2781 ! Osteopetrosis property_value: alternative:term "Mixed sclerosing bone dystrophy" xsd:string property_value: alternative:term "MSBD syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Melorheostosis with osteopoikilosisis a type of mixed sclerosing bone dysplasia combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms) and characterized by a variable presentation of limb pain and deformities" xsd:string [Term] id: Orphanet:188 name: Systemic capillary leak syndrome xref: ICD10:I78.8 xref: MEDDRA:10007196 xref: MESH:D019559 xref: SNOMED CT:87730004 xref: UMLS:C0343084 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182222 ! Rare systemic disease property_value: alternative:term "Capillary hyperpermeability syndrome" xsd:string property_value: alternative:term "Capillary leak syndrome" xsd:string property_value: alternative:term "Clarkson disease" xsd:string property_value: alternative:term "Idiopathic capillary leak syndrome" xsd:string property_value: alternative:term "SCLS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Systemic capillary leak syndrome (SCLS) is a severe systemic disease due to increased capillary permeability, characterized by episodes of hypotension, edema and hypovolemia." xsd:string [Term] id: Orphanet:1880 name: Ebstein malformation xref: ICD10:Q22.5 xref: OMIM:224700 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98721 ! Congenital tricuspid malformation property_value: alternative:term "Ebstein anomaly of the tricuspid valve" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction." xsd:string [Term] id: Orphanet:1882 name: Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia xref: OMIM:225050 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:177107 ! Syndromic hypothyroidism relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "ANOTHER syndrome" xsd:string [Term] id: Orphanet:1883 name: Ectodermal dysplasia - sensorineural deafness xref: OMIM:224800 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:1884 name: Ectopia lentis - chorioretinal dystrophy - myopia xref: ICD10:Q15.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:71862 ! Retinal dystrophy relationship: part_of Orphanet:98653 ! Lens position anomaly property_value: alternative:term "Noble-Bass-Sherman syndrome" xsd:string [Term] id: Orphanet:1885 name: Isolated ectopia lentis xref: ICD10:Q12.1 xref: MEDDRA:10014145 xref: MESH:C536184 xref: MESH:D004479 xref: OMIM:129600 xref: OMIM:225100 xref: OMIM:225200 xref: SNOMED CT:74969002 xref: UMLS:C0013581 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:284993 ! Marfan and Marfan-related disorder relationship: part_of Orphanet:98653 ! Lens position anomaly property_value: alternative:term "Ectopia lentis syndrome" xsd:string property_value: alternative:term "Familial ectopia lentis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity." xsd:string [Term] id: Orphanet:1888 name: Ectrodactyly - ectodermal dysplasia without clefting is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_1896 with label: EEC syndrome" xsd:string [Term] id: Orphanet:188805 name: mitochondrially encoded tRNA glycine xref: ENSEMBL:ENSG00000210164 xref: GENATLAS:MT-TG xref: HGNC:7486 xref: OMIM:590035 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:255225 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited mitochondrial hypertrophic cardiomyopathy property_value: alternative:term "MTTG" xsd:string property_value: alternative:term "tRNA glycine" xsd:string property_value: alternative:term "trnG" xsd:string property_value: symbol "MT-TG" xsd:string [Term] id: Orphanet:188809 name: synaptic Ras GTPase activating protein 1 xref: ENSEMBL:ENSG00000197283 xref: GENATLAS:SYNGAP1 xref: HGNC:11497 xref: OMIM:603384 xref: UNIPROTKB/SWISSPROT:Q96PV0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178469 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic intellectual deficit property_value: alternative:term "KIAA1938" xsd:string property_value: alternative:term "RASA5" xsd:string property_value: alternative:term "Synaptic Ras GTPase activating protein 1 homolog (rat)" xsd:string property_value: alternative:term "SYNGAP" xsd:string property_value: symbol "SYNGAP1" xsd:string [Term] id: Orphanet:188814 name: apolipoprotein A-II xref: ENSEMBL:ENSG00000158874 xref: GENATLAS:APOA2 xref: HGNC:601 xref: OMIM:107670 xref: REACTOME:P02652 xref: UNIPROTKB/SWISSPROT:P02652 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:238269 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial renal amyloidosis due to Apolipoprotein AII variant property_value: symbol "APOA2" xsd:string [Term] id: Orphanet:1889 name: Ectrodactyly - cleft palate is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_1896 with label: EEC syndrome" xsd:string [Term] id: Orphanet:189 name: Hidrotic ectodermal dysplasia xref: ICD10:Q82.8 xref: OMIM:129500 xref: SNOMED CT:54209007 xref: UMLS:C0162361 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:98352 ! Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature property_value: alternative:term "Clouston syndrome" xsd:string [Term] id: Orphanet:1891 name: Intellectual deficit - spasticity - ectrodactyly xref: OMIM:246555 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Jancar syndrome" xsd:string [Term] id: Orphanet:189127 name: latent transforming growth factor beta binding protein 3 xref: ENSEMBL:ENSG00000168056 xref: GENATLAS:LTBP3 xref: HGNC:6716 xref: OMIM:602090 xref: REACTOME:Q9NS15 xref: UNIPROTKB/SWISSPROT:Q9NS15 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99798 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oligodontia property_value: alternative:term "LTBP2" xsd:string property_value: symbol "LTBP3" xsd:string [Term] id: Orphanet:189131 name: matrin 3 xref: ENSEMBL:ENSG00000015479 xref: GENATLAS:MATR3 xref: HGNC:6912 xref: OMIM:164015 xref: UNIPROTKB/SWISSPROT:P43243 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:600 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Distal myopathy with vocal cord weakness property_value: alternative:term "KIAA0723" xsd:string property_value: alternative:term "MGC9105" xsd:string property_value: alternative:term "MPD2" xsd:string property_value: alternative:term "myopathy, distal 2" xsd:string property_value: alternative:term "VCPDM" xsd:string property_value: symbol "MATR3" xsd:string [Term] id: Orphanet:189135 name: membrane-bound transcription factor peptidase, site 2 xref: ENSEMBL:ENSG00000012174 xref: GENATLAS:MBTPS2 xref: HGNC:15455 xref: OMIM:300294 xref: REACTOME:O43462 xref: UNIPROTKB/SWISSPROT:O43462 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2273 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ichthyosis follicularis - alopecia - photophobia relationship: Orphanet:317343 Orphanet:2340 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Keratosis follicularis spinulosa decalvans relationship: Orphanet:317343 Orphanet:659 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mutilating palmoplantar keratoderma with periorificial keratotic plaques relationship: Orphanet:317343 Orphanet:85284 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! BRESEK syndrome property_value: alternative:term "membrane-bound transcription factor protease, site 2" xsd:string property_value: alternative:term "S2P" xsd:string property_value: symbol "MBTPS2" xsd:string [Term] id: Orphanet:189174 name: homeobox D10 xref: ENSEMBL:ENSG00000128710 xref: GENATLAS:HOXD10 xref: HGNC:5133 xref: OMIM:142984 xref: UNIPROTKB/SWISSPROT:P28358 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:295201 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital vertical talus, unilateral relationship: Orphanet:317343 Orphanet:295203 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital vertical talus, bilateral property_value: alternative:term "homeo box D10" xsd:string property_value: alternative:term "HOX4" xsd:string property_value: alternative:term "HOX4D" xsd:string property_value: symbol "HOXD10" xsd:string [Term] id: Orphanet:1892 name: Ectrodactyly - polydactyly xref: ICD10:Q74.8 xref: OMIM:225290 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy [Term] id: Orphanet:189325 name: VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) xref: ENSEMBL:ENSG00000160131 xref: GENATLAS:VMA21 xref: HGNC:22082 xref: OMIM:300913 xref: UNIPROTKB/SWISSPROT:Q3ZAQ7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:25980 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked myopathy with excessive autophagy property_value: alternative:term "MEAX" xsd:string property_value: alternative:term "myopathy with excessive autophagy" xsd:string property_value: alternative:term "XMEA" xsd:string property_value: symbol "VMA21" xsd:string [Term] id: Orphanet:189330 name: ALX homeobox 3 xref: ENSEMBL:ENSG00000156150 xref: GENATLAS:ALX3 xref: HGNC:449 xref: OMIM:606014 xref: UNIPROTKB/SWISSPROT:O95076 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:250 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Frontonasal dysplasia property_value: alternative:term "aristaless-like homeobox 3" xsd:string property_value: symbol "ALX3" xsd:string [Term] id: Orphanet:189333 name: microRNA 96 xref: ENSEMBL:ENSG00000199158 xref: HGNC:31648 xref: OMIM:611606 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA property_value: alternative:term "deafness, autosomal dominant 50" xsd:string property_value: alternative:term "DFNA50" xsd:string property_value: alternative:term "hsa-mir-96" xsd:string property_value: alternative:term "MIRN96" xsd:string property_value: symbol "MIR96" xsd:string [Term] id: Orphanet:189338 name: SMAD family member 9 xref: ENSEMBL:ENSG00000120693 xref: GENATLAS:SMAD9 xref: HGNC:6774 xref: OMIM:603295 xref: REACTOME:O15198 xref: UNIPROTKB/SWISSPROT:O15198 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:275777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Heritable pulmonary arterial hypertension property_value: alternative:term "MAD, mothers against decapentaplegic homolog 9 (Drosophila)" xsd:string property_value: alternative:term "MADH6" xsd:string property_value: alternative:term "MADH9" xsd:string property_value: alternative:term "SMAD, mothers against DPP homolog 9 (Drosophila)" xsd:string property_value: alternative:term "SMAD8" xsd:string property_value: symbol "SMAD9" xsd:string [Term] id: Orphanet:189344 name: potassium inwardly-rectifying channel, subfamily J, member 10 xref: ENSEMBL:ENSG00000177807 xref: GENATLAS:KCNJ10 xref: HGNC:6256 xref: IUPHAR:438 xref: OMIM:602208 xref: REACTOME:P78508 xref: UNIPROTKB/SWISSPROT:P78508 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:199343 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! EAST syndrome relationship: Orphanet:317343 Orphanet:705 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pendred syndrome relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "Kir1.2" xsd:string property_value: alternative:term "Kir4.1" xsd:string property_value: symbol "KCNJ10" xsd:string [Term] id: Orphanet:189348 name: latent transforming growth factor beta binding protein 2 xref: ENSEMBL:ENSG00000119681 xref: GENATLAS:LTBP2 xref: HGNC:6715 xref: OMIM:602091 xref: REACTOME:Q14767 xref: UNIPROTKB/SWISSPROT:Q14767 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:238763 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glaucoma secondary to spherophakia/ectopia lentis and megalocornea relationship: Orphanet:317343 Orphanet:3449 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Weill-Marchesani syndrome relationship: Orphanet:317343 Orphanet:98976 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital glaucoma property_value: alternative:term "C14orf141" xsd:string property_value: alternative:term "chromosome 14 open reading frame 141" xsd:string property_value: alternative:term "LTBP3" xsd:string property_value: symbol "LTBP2" xsd:string [Term] id: Orphanet:189424 name: ACTH independent Cushing syndrome due to bilateral adrenocortical hyperplasia xref: ICD10:E24.8 is_a: Orphanet:99893 ! ACTH-independent Cushing syndrome property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia characterizes a group of bilateral adrenocortical hyperplasias that are often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (CS; see this term) and that include ACTH-independent macronodular adrenal hyperplasia (AIMAH) and primary pigmented nodular adrenocortical disease (PPNAD; see these terms)." xsd:string [Term] id: Orphanet:189427 name: ACTH-independent macronodular adrenal hyperplasia xref: ICD10:E24.8 xref: OMIM:219080 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:189424 ! ACTH independent Cushing syndrome due to bilateral adrenocortical hyperplasia property_value: alternative:term "Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia" xsd:string property_value: alternative:term "AIMAH" xsd:string property_value: alternative:term "Corticotropin-independent macronodular adrenal hyperplasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term)." xsd:string [Term] id: Orphanet:189439 name: Primary pigmented nodular adrenocortical disease xref: ICD10:E24.8 xref: OMIM:610475 xref: OMIM:610489 xref: OMIM:614190 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183637 ! Rare genetic adrenal disease relationship: part_of Orphanet:189424 ! ACTH independent Cushing syndrome due to bilateral adrenocortical hyperplasia property_value: alternative:term "PPNAD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter)." xsd:string [Term] id: Orphanet:189466 name: Familial isolated hypoparathyroidism due to impaired PTH secretion xref: ICD10:E20.8 xref: OMIM:146200 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:2238 ! Familial isolated hypoparathyroidism [Term] id: Orphanet:1896 name: EEC syndrome xref: ICD10:Q82.4 xref: OMIM:129900 xref: OMIM:604292 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:98569 ! Secondary entropion relationship: part_of Orphanet:98609 ! EEC syndrome and related syndrome property_value: alternative:term "Ectrodactyly - ectodermal dysplasia - cleft lip/palate" xsd:string [Term] id: Orphanet:1897 name: EEM syndrome xref: ICD10:Q87.8 xref: OMIM:225280 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:98664 ! Genetic macular dystrophy property_value: alternative:term "Ectodermal dysplasia - ectrodactyly - macular dystrophy" xsd:string [Term] id: Orphanet:1899 name: Ehlers-Danlos syndrome, arthrochalasic type xref: ICD10:Q79.6 xref: OMIM:130060 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98249 ! Ehlers-Danlos syndrome property_value: alternative:term "EDS VII" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome type 7" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome, arthrochalasia type" xsd:string [Term] id: Orphanet:19 name: 2-hydroxyglutaric aciduria xref: ICD10:E72.8 is_a: Orphanet:225689 ! Amino acid or protein metabolism disease with epilepsy is_a: Orphanet:68385 ! Neurometabolic disease is_a: Orphanet:79158 ! Cerebral organic aciduria relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "2-hydroxyglutaric acidemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine." xsd:string [Term] id: Orphanet:190 name: Coats disease xref: ICD10:H35.0 xref: MEDDRA:10015901 xref: MESH:D058456 xref: OMIM:300216 xref: SNOMED CT:25506007 xref: SNOMED CT:360455002 xref: UMLS:C0154832 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98637 ! Secondary glaucoma due to a proliferation and differentiation anomaly relationship: part_of Orphanet:98669 ! Congenital vitreoretinal dysplasia property_value: alternative:term "Congenital retinal telangiectasia" xsd:string property_value: alternative:term "Leber miliary aneurysm" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children." xsd:string [Term] id: Orphanet:1900 name: Ehlers-Danlos syndrome, kyphoscoliotic type xref: ICD10:Q79.6 xref: OMIM:225400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98249 ! Ehlers-Danlos syndrome relationship: part_of Orphanet:98702 ! Connective tissue disease with eye involvement property_value: alternative:term "EDS VIA" xsd:string property_value: alternative:term "EDS, kyphoscoliotic type" xsd:string property_value: alternative:term "EDS, oculoscoliotic type" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome type 6A" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome, oculoscoliotic type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by hypotonia, kyphoscoliosis at birth and joint hyperextensibility." xsd:string [Term] id: Orphanet:1901 name: Ehlers-Danlos syndrome, dermatosparaxis type xref: ICD10:Q79.6 xref: OMIM:225410 xref: SNOMED CT:55711009 xref: UMLS:C2700425 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98249 ! Ehlers-Danlos syndrome property_value: alternative:term "EDS VIIC" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome type 7C" xsd:string [Term] id: Orphanet:1902 name: Ehrlichiosis xref: ICD10:A48.8 xref: MESH:D016873 xref: SNOMED CT:77361002 xref: UMLS:C0085399 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102021 ! Rickettsial disease [Term] id: Orphanet:1906 name: Fetal valproate syndrome xref: ICD10:Q86.8 xref: MEDDRA:10016524 xref: MESH:C536525 xref: OMIM:609442 xref: SNOMED CT:17231009 xref: UMLS:C0236026 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:138059 ! Teratogenic Pierre Robin syndrome relationship: part_of Orphanet:370068 ! Fetal anticonvulsant syndrome property_value: alternative:term "Fetal valproic acid syndrome" xsd:string [Term] id: Orphanet:1908 name: Aminopterin/methotrexate embryofetopathy xref: ICD10:Q86.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:138059 ! Teratogenic Pierre Robin syndrome relationship: part_of Orphanet:251529 ! Toxic or drug-related embryofetopathy property_value: alternative:term "Aminopterin embryopathy syndrome" xsd:string property_value: alternative:term "Fetal aminopterin syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy." xsd:string [Term] id: Orphanet:1909 name: Indomethacin embryofetopathy xref: ICD10:Q86.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:138059 ! Teratogenic Pierre Robin syndrome relationship: part_of Orphanet:251529 ! Toxic or drug-related embryofetopathy property_value: alternative:term "Fetal indomethacin syndrome" xsd:string [Term] id: Orphanet:191 name: Cockayne syndrome xref: ICD10:Q87.1 xref: MEDDRA:10009835 xref: MESH:D003057 xref: OMIM:133540 xref: OMIM:214150 xref: OMIM:216400 xref: OMIM:216411 xref: OMIM:278780 xref: OMIM:610651 xref: OMIM:610756 xref: OMIM:610758 xref: SNOMED CT:21086008 xref: UMLS:C0009207 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:139033 ! Progeroid syndrome relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:363245 ! Genetic progeroid syndrome relationship: part_of Orphanet:79389 ! Premature aging relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa [Term] id: Orphanet:1910 name: Fetal iodine syndrome xref: ICD10:P72.2 xref: OMIM:228355 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:138059 ! Teratogenic Pierre Robin syndrome relationship: part_of Orphanet:238696 ! Transient congenital hypothyroidism due to maternal factor relationship: part_of Orphanet:251529 ! Toxic or drug-related embryofetopathy [Term] id: Orphanet:1911 name: Cocaine embryofetopathy xref: ICD10:Q86.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:138059 ! Teratogenic Pierre Robin syndrome relationship: part_of Orphanet:251529 ! Toxic or drug-related embryofetopathy property_value: alternative:term "Fetal cocaine syndrome" xsd:string [Term] id: Orphanet:1912 name: Fetal hydantoin syndrome xref: ICD10:Q86.1 xref: MEDDRA:10016508 xref: MESH:C537922 xref: SNOMED CT:70065001 xref: UMLS:C0265372 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:138059 ! Teratogenic Pierre Robin syndrome relationship: part_of Orphanet:370068 ! Fetal anticonvulsant syndrome property_value: alternative:term "Fetal dihydantoin syndrome" xsd:string property_value: alternative:term "Phenytoin embryofetopathy" xsd:string [Term] id: Orphanet:1913 name: Fetal trimethadione syndrome xref: ICD10:Q86.8 xref: MESH:C537798 xref: SNOMED CT:66351003 xref: UMLS:C0265373 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:138059 ! Teratogenic Pierre Robin syndrome relationship: part_of Orphanet:370068 ! Fetal anticonvulsant syndrome [Term] id: Orphanet:1914 name: Embryofetopathy due to oral anticoagulant therapy xref: ICD10:Q86.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:138059 ! Teratogenic Pierre Robin syndrome relationship: part_of Orphanet:251529 ! Toxic or drug-related embryofetopathy property_value: alternative:term "Coumarin embryopathy" xsd:string property_value: alternative:term "Fetal warfarin syndrome" xsd:string property_value: alternative:term "Vitamin K antagonists embryofetopathy" xsd:string [Term] id: Orphanet:1915 name: Fetal alcohol syndrome xref: ICD10:Q86.0 xref: MEDDRA:10016845 xref: MESH:D005310 xref: SNOMED CT:205788004 xref: UMLS:C0015923 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:138059 ! Teratogenic Pierre Robin syndrome relationship: part_of Orphanet:251529 ! Toxic or drug-related embryofetopathy property_value: alternative:term "Alcohol antenatal infection" xsd:string [Term] id: Orphanet:1916 name: Diethylstilbestrol syndrome xref: ICD10:Q86.8 xref: MEDDRA:10012780 xref: UMLS:C0853695 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:180065 ! Non-syndromic uterovaginal malformation relationship: part_of Orphanet:251529 ! Toxic or drug-related embryofetopathy property_value: alternative:term "DES embryofetopathy" xsd:string property_value: alternative:term "DES syndrome" xsd:string property_value: alternative:term "Diethylstilbestrol embryofetopathy" xsd:string property_value: alternative:term "Distilbene embryofetopathy" xsd:string [Term] id: Orphanet:1917 name: Fetal methylmercury syndrome xref: ICD10:T56.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:138059 ! Teratogenic Pierre Robin syndrome relationship: part_of Orphanet:251529 ! Toxic or drug-related embryofetopathy property_value: alternative:term "Methyl mercury antenatal infection" xsd:string property_value: alternative:term "Minamata disease" xsd:string [Term] id: Orphanet:1918 name: Fetal minoxidil syndrome xref: ICD10:Q86.8 xref: SNOMED CT:254251003 xref: UMLS:C0432373 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:138059 ! Teratogenic Pierre Robin syndrome relationship: part_of Orphanet:251529 ! Toxic or drug-related embryofetopathy property_value: alternative:term "Minoxidil antenatal infection" xsd:string [Term] id: Orphanet:1919 name: Phenobarbital embryopathy xref: ICD10:Q86.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:138059 ! Teratogenic Pierre Robin syndrome relationship: part_of Orphanet:370068 ! Fetal anticonvulsant syndrome [Term] id: Orphanet:192 name: Coffin-Lowry syndrome xref: ICD10:Q87.0 xref: MESH:D038921 xref: OMIM:303600 xref: SNOMED CT:15182000 xref: UMLS:C0265252 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "CLS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes." xsd:string [Term] id: Orphanet:1920 name: Toluene embryopathy xref: ICD10:Q86.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:138059 ! Teratogenic Pierre Robin syndrome relationship: part_of Orphanet:251529 ! Toxic or drug-related embryofetopathy property_value: alternative:term "Toluene antenatal infection" xsd:string [Term] id: Orphanet:1923 name: Methimazole embryofetopathy xref: ICD10:Q86.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:138059 ! Teratogenic Pierre Robin syndrome relationship: part_of Orphanet:251529 ! Toxic or drug-related embryofetopathy [Term] id: Orphanet:1926 name: Diabetic embryopathy xref: ICD10:P00.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:138059 ! Teratogenic Pierre Robin syndrome relationship: part_of Orphanet:217598 ! Non-familial hypertrophic cardiomyopathy relationship: part_of Orphanet:251535 ! Maternal disease-related embryofetopathy relationship: part_of Orphanet:93460 ! Overgrowth syndrome [Term] id: Orphanet:1927 name: Emery-Nelson syndrome xref: ICD10:Q87.8 xref: OMIM:139750 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:109009 ! Syndrome with limb malformations as a major feature property_value: alternative:term "Hand and foot deformity - flat facies" xsd:string [Term] id: Orphanet:1928 name: Congenital lobar emphysema xref: ICD10:Q33.8 xref: MESH:C535735 xref: OMIM:130710 xref: SNOMED CT:66987001 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108993 ! Nonsyndromic respiratory or mediastinal malformation relationship: part_of Orphanet:182111 ! Respiratory malformation relationship: part_of Orphanet:183622 ! Genetic respiratory malformation [Term] id: Orphanet:1929 name: Rasmussen subacute encephalitis xref: ICD10:G04.8 xref: MESH:C535291 xref: SNOMED CT:230191005 xref: UMLS:C2930868 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:166484 ! Inflammatory and autoimmune disease with epilepsy relationship: part_of Orphanet:98253 ! Postinfectious encephalitis property_value: alternative:term "Rasmussen syndrome" xsd:string [Term] id: Orphanet:193 name: Cohen syndrome xref: ICD10:Q87.8 xref: MEDDRA:10049066 xref: MESH:C536438 xref: OMIM:216550 xref: SNOMED CT:56604005 xref: UMLS:C0265223 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:240371 ! Syndromic obesity relationship: part_of Orphanet:331184 ! Constitutional neutropenia with extra-haematopoietic manifestations relationship: part_of Orphanet:98620 ! Syndromic myopia relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity." xsd:string [Term] id: Orphanet:1930 name: Herpetic encephalitis xref: ICD10:B00.4+ xref: ICD10:G05.1* xref: OMIM:610551 xref: OMIM:613002 xref: OMIM:614849 xref: OMIM:614850 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:166490 ! Infectious disease with epilepsy relationship: part_of Orphanet:183710 ! Genetic susceptibility to infections due to particular pathogens relationship: part_of Orphanet:98252 ! Infectious encephalitis relationship: part_of Orphanet:98542 ! Infectious disease with dementia property_value: alternative:term "Herpes simplex encephalitis" xsd:string property_value: alternative:term "Herpes simplex neuroinvasion" xsd:string property_value: alternative:term "HSV encephalitis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Herpetic encephalopathy (HSE) is caused by Herpes simplex virus (HSV) and affects the frontal and temporal lobes, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. The disease is potentially fatal." xsd:string [Term] id: Orphanet:1931 name: Frontal encephalocele xref: ICD10:Q01.0 xref: SNOMED CT:253103006 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:199647 ! Isolated encephalocele property_value: alternative:term "Anterior encephalocele" xsd:string [Term] id: Orphanet:1933 name: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria xref: OMIM:612073 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254803 ! Mitochondrial DNA depletion syndrome, encephalomyopathic form relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "Booth-Haworth-Dilling syndrome" xsd:string property_value: alternative:term "Mitochondrial encephalomyopathy - aminoacidopathy" xsd:string property_value: alternative:term "mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" xsd:string [Term] id: Orphanet:1934 name: Early infantile epileptic encephalopathy xref: ICD10:G40.3 xref: OMIM:308350 xref: OMIM:609304 xref: OMIM:612164 xref: OMIM:613477 xref: OMIM:613720 xref: OMIM:613721 xref: OMIM:613722 xref: OMIM:614558 xref: OMIM:615473 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182079 ! ARX-related epileptic encephalopathy relationship: part_of Orphanet:182083 ! Channelopathy with epilepsy relationship: part_of Orphanet:98257 ! Neonatal epilepsy syndrome property_value: alternative:term "Early infantile epileptic encephalopathy with suppression-bursts" xsd:string property_value: alternative:term "EIEE" xsd:string property_value: alternative:term "Ohtahara syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Early infantile epileptic encephalopathy (EIEE) or Ohtahara syndrome is the most severe form of age-related epileptic encephalopathy and characterized by the onset of tonic spasm within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death." xsd:string [Term] id: Orphanet:1935 name: Early myoclonic encephalopathy xref: ICD10:G31.8 xref: OMIM:609304 xref: SNOMED CT:44423001 xref: UMLS:C0270855 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254830 ! Mitochondrial substrate carrier disorder relationship: part_of Orphanet:98257 ! Neonatal epilepsy syndrome property_value: alternative:term "Early myoclonic encephalopathy with suppression-bursts" xsd:string [Term] id: Orphanet:1939 name: Envenomization by Bothrops lanceolatus xref: ICD10:T63.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:108999 ! Rare intoxication property_value: alternative:term "Envenomization by the Martinique lancehead viper" xsd:string [Term] id: Orphanet:194 name: Ocular coloboma xref: SNOMED CT:92828000 xref: SNOMED CT:93390002 xref: UMLS:C0009363 is_a: Orphanet:108985 ! Nonsyndromic developmental defect of the eye is_a: Orphanet:98558 ! Rare eye disease due to a differentiation anomaly [Term] id: Orphanet:1940 name: Shoulder and thorax deformity - congenital heart disease xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:182108 ! Thoracic malformation relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects [Term] id: Orphanet:1941 name: Juvenile absence epilepsy xref: ICD10:G40.3 xref: MESH:C535495 xref: OMIM:607631 xref: SNOMED CT:230413002 xref: UMLS:C2930918 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:309 ! Familial partial epilepsy property_value: alternative:term "JAE" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Juvenile absence epilepsy is one of the age-related idiopathic generalized epilepsies (IGE) with an age at onset between 10 and 17 years of age, and is characterized by sporadic (non-pyknoleptic) occurrence of absence seizures frequently associated with generalized tonic-clonic seizures (GTCS) predominantly on awakening. Interictal and ictal EEG shows generalized spike and wave discharges with normal background activity." xsd:string [Term] id: Orphanet:1942 name: Epilepsy with myoclonic-astatic seizures xref: ICD10:G40.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98259 ! Childhood-onset epilepsy syndrome property_value: alternative:term "Doose syndrome" xsd:string property_value: alternative:term "EMAS" xsd:string property_value: alternative:term "Epilepsy with myoclonic-atonic seizures" xsd:string property_value: alternative:term "MAE" xsd:string property_value: alternative:term "Myoclonic atonic epilepsy" xsd:string property_value: alternative:term "Myoclonic-astatic epilepsy in early childhood" xsd:string [Term] id: Orphanet:1943 name: Infant epilepsy with migrant focal crisis xref: ICD10:G40.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98258 ! Infantile epilepsy syndrome [Term] id: Orphanet:1945 name: Benign familial epilepsy of childhood with rolandic spikes xref: ICD10:G40.0 xref: OMIM:117100 xref: OMIM:245570 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:309 ! Familial partial epilepsy property_value: alternative:term "Autosomal dominant BECRS" xsd:string property_value: alternative:term "Centrotemporal epilepsy" xsd:string [Term] id: Orphanet:1946 name: Amelo-cerebro-hypohidrotic syndrome xref: ICD10:G40.8 xref: OMIM:226750 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Epilepsy - dementia - amelogenesis imperfecta" xsd:string property_value: alternative:term "Kohlschutter-Tonz syndrome" xsd:string [Term] id: Orphanet:1947 name: Progressive epilepsy - intellectual deficit, Finnish type xref: ICD10:E75.4 xref: OMIM:610003 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:166472 ! Monogenic disease with epilepsy relationship: part_of Orphanet:216 ! Neuronal ceroid lipofuscinosis relationship: part_of Orphanet:98261 ! Progressive myoclonic epilepsy property_value: alternative:term "CLN8 disease, Northern epilepsy variant" xsd:string property_value: alternative:term "NCL, Northern epilepsy variant" xsd:string property_value: alternative:term "Neuronal ceroid lipofuscinosis, Northern epilepsy variant" xsd:string property_value: alternative:term "Northern epilepsy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision." xsd:string [Term] id: Orphanet:1948 name: Epilepsy - microcephaly - skeletal dysplasia xref: OMIM:601352 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Battaglia-Neri syndrome" xsd:string [Term] id: Orphanet:1949 name: Benign familial neonatal seizures xref: ICD10:G40.3 xref: MEDDRA:10067866 xref: MESH:C535466 xref: MESH:D020936 xref: OMIM:121200 xref: OMIM:121201 xref: OMIM:269720 xref: OMIM:608217 xref: SNOMED CT:230410004 xref: UMLS:C0220669 xref: UMLS:C2930911 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309 ! Familial partial epilepsy relationship: part_of Orphanet:98257 ! Neonatal epilepsy syndrome property_value: alternative:term "Benign familial neonatal convulsions" xsd:string property_value: alternative:term "Benign familial neonatal epilepsy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Benign familial neonatal seizures (BFNS) is a rare epilepsy of the newborn characterized by partial or generalized seizures, which occur during wakefulness and/or sleep. Seizures typically start in the first days of life and remit spontaneously by approximately 4 months of age." xsd:string [Term] id: Orphanet:195 name: Cat-eye syndrome xref: ICD10:Q92.8 xref: MESH:C535918 xref: OMIM:115470 xref: SNOMED CT:26445008 xref: UMLS:C0265493 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:263708 ! Complex chromosomal rearrangement relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:98683 ! Syndrome with a symptomatic strabismus property_value: alternative:term "Chromosome 22 inversion/duplication" xsd:string property_value: alternative:term "Ocular coloboma - imperforate anus" xsd:string [Term] id: Orphanet:1952 name: Pacman dysplasia xref: ICD10:Q77.8 xref: MESH:C538095 xref: OMIM:167220 xref: UMLS:C1833676 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93449 ! Primary osteolysis property_value: alternative:term "Epiphyseal stippling syndrome - osteoclastic hyperplasia" xsd:string [Term] id: Orphanet:1954 name: Congenital lethal erythroderma xref: ICD10:L26 xref: MESH:C535513 xref: OMIM:227090 xref: UMLS:C1856898 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79385 ! Unclassified genetic skin disease [Term] id: Orphanet:1955 name: Erythrokeratodermia - ataxia xref: MESH:C535514 xref: MESH:C535738 xref: OMIM:133190 xref: UMLS:C1851481 xref: UMLS:C2930921 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183438 ! Genetic erythrokeratoderma relationship: part_of Orphanet:79355 ! Erythrokeratoderma relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 [Term] id: Orphanet:1956 name: Erythromelalgia xref: ICD10:I73.8 xref: MEDDRA:10015284 xref: MESH:D004916 xref: SNOMED CT:37151006 xref: UMLS:C0014804 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:140474 ! Autosomal dominant hereditary sensory and autonomic neuropathy relationship: part_of Orphanet:79385 ! Unclassified genetic skin disease [Term] id: Orphanet:1957 name: Esthesioneuroblastoma xref: SNOMED CT:76060004 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:251870 ! Central nervous system primitive neuroectodermal tumor property_value: alternative:term "Olfactory neuroblastoma" xsd:string [Term] id: Orphanet:1959 name: Evans syndrome xref: ICD10:D69.3 xref: MEDDRA:10053873 xref: SNOMED CT:75331009 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:71203 ! Autoimmune thrombocytopenia relationship: part_of Orphanet:98375 ! Autoimmune hemolytic anemia [Term] id: Orphanet:1962 name: Exostoses - anetodermia - brachydactyly type E xref: ICD10:Q87.5 xref: OMIM:133690 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components [Term] id: Orphanet:1970 name: Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation xref: ICD10:Q87.8 xref: OMIM:220219 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:269546 ! Syndrome with a Dandy-Walker malformation as major feature relationship: part_of Orphanet:269570 ! Genetic syndrome with a Dandy-Walker malformation as major feature [Term] id: Orphanet:1972 name: Lethal faciocardiomelic dysplasia xref: ICD10:Q87.8 xref: OMIM:227270 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome." xsd:string [Term] id: Orphanet:1973 name: Faciocardiorenal syndrome xref: ICD10:Q87.8 xref: MESH:C536388 xref: OMIM:227280 xref: UMLS:C0795936 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Eastman-Bixler syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects." xsd:string [Term] id: Orphanet:1974 name: Autosomal recessive facio-digito-genital syndrome xref: ICD10:Q87.8 xref: OMIM:227330 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139021 ! Malformation syndrome with short stature relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:183570 ! Genetic malformation syndrome with short stature relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Aarskog-like syndrome" xsd:string property_value: alternative:term "Facio-digito-genital syndrome, Kuwait type" xsd:string property_value: alternative:term "Teebi-Naguib-Alawadi syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum." xsd:string [Term] id: Orphanet:1979 name: Lipodystrophy due to peptidic growth factors deficiency xref: ICD10:E88.1 xref: OMIM:233805 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98305 ! Genetic lipodystrophy property_value: alternative:term "Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency" xsd:string property_value: alternative:term "Hoepffner-Dreyer-Reimers syndrome" xsd:string property_value: alternative:term "Werner-like syndrome due to combined growth factor deficiency" xsd:string [Term] id: Orphanet:198 name: Occipital horn syndrome xref: ICD10:E83.0 xref: MESH:C537860 xref: OMIM:304150 xref: SNOMED CT:59399004 xref: UMLS:C0268353 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:209 ! Cutis laxa relationship: part_of Orphanet:309839 ! Disorder of copper metabolism relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "EDS IX" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome type IX" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome, type 9" xsd:string property_value: alternative:term "X-linked cutis laxa" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect." xsd:string [Term] id: Orphanet:1980 name: Bilateral striopallidodentate calcinosis xref: ICD10:G23.8 xref: OMIM:213600 xref: OMIM:606656 xref: OMIM:615007 xref: OMIM:615483 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:158124 ! Genetic dementia relationship: part_of Orphanet:306695 ! Miscellaneous movement disorder due to neurodegenerative disease relationship: part_of Orphanet:307058 ! Miscellaneous movement disorder due to genetic neurodegenerative disease relationship: part_of Orphanet:89043 ! Rare dementia property_value: alternative:term "BSPDC" xsd:string property_value: alternative:term "Cerebrovascular ferrocalcinosis" xsd:string property_value: alternative:term "Idiopathic basal ganglia calcification" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration." xsd:string [Term] id: Orphanet:1981 name: Fanconi syndrome - ichthyosis - dysmorphism is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_2697 with label: Arthrogryposis - renal dysfunction - cholestasis" xsd:string [Term] id: Orphanet:1984 name: Fechtner syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_182050 with label: MYH9-related thrombocytopenia" xsd:string [Term] id: Orphanet:1986 name: Gollop-Wolfgang complex xref: ICD10:Q74.8 xref: OMIM:228250 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:294957 ! Dysostosis with combined reduction defects of upper and lower limbs relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "Bifid femur - monodactylous ectrodactyly" xsd:string [Term] id: Orphanet:1987 name: Femoral agenesis/hypoplasia xref: ICD10:Q72.4 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93457 ! Non syndromic limb reduction defect property_value: alternative:term "Congenital short femur" xsd:string property_value: alternative:term "Femoral intercalary meromelia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur." xsd:string [Term] id: Orphanet:1988 name: Femoral-facial syndrome xref: ICD10:Q87.8 xref: MESH:C537916 xref: OMIM:134780 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Femoral hypoplasia - unusual facies syndrome" xsd:string property_value: alternative:term "FFS" xsd:string property_value: alternative:term "FHUFS" xsd:string [Term] id: Orphanet:199 name: Cornelia de Lange syndrome xref: ICD10:Q87.1 xref: MEDDRA:10056354 xref: MESH:D003635 xref: OMIM:122470 xref: OMIM:300590 xref: OMIM:300882 xref: OMIM:610759 xref: OMIM:614701 xref: SNOMED CT:40354009 xref: UMLS:C0270972 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:108979 ! Syndromic diaphragmatic or abdominal wall malformation relationship: part_of Orphanet:138063 ! Syndrome associated with Pierre Robin syndrome relationship: part_of Orphanet:139021 ! Malformation syndrome with short stature relationship: part_of Orphanet:180779 ! Syndromic diaphragmatic or thoracic malformation relationship: part_of Orphanet:183570 ! Genetic malformation syndrome with short stature relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:98578 ! Ptosis relationship: part_of Orphanet:98596 ! Eyebrow hypertrophy relationship: part_of Orphanet:98683 ! Syndrome with a symptomatic strabismus property_value: alternative:term "Brachmann-de Lange syndrome" xsd:string [Term] id: Orphanet:199241 name: Pulmonary capillary hemangiomatosis xref: ICD10:D18.0 xref: MESH:C535861 xref: OMIM:234810 xref: SNOMED CT:233949008 xref: UMLS:C0340548 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:156610 ! Rare genetic respiratory disease relationship: part_of Orphanet:182090 ! Pulmonary arterial hypertension [Term] id: Orphanet:199244 name: Nelson syndrome xref: ICD10:E24.1 xref: MEDDRA:10028913 xref: MESH:D009347 xref: SNOMED CT:43019009 xref: UMLS:C0027577 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:314753 ! Functioning pituitary adenoma [Term] id: Orphanet:199247 name: Corticosteroid-binding globulin deficiency xref: ICD10:E27.8 xref: OMIM:611489 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101954 ! Rare adrenal disease relationship: part_of Orphanet:183637 ! Rare genetic adrenal disease property_value: alternative:term "Transcortin deficiency" xsd:string [Term] id: Orphanet:199251 name: Ledderhose disease xref: ICD10:M72.2 xref: MEDDRA:10035154 xref: MESH:C537000 xref: SNOMED CT:13370002 xref: UMLS:C0158360 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:199257 ! Superficial fibromatosis property_value: alternative:term "Plantar fibromatosis" xsd:string [Term] id: Orphanet:199257 name: Superficial fibromatosis xref: ICD10:M72.8 xref: SNOMED CT:238853007 xref: UMLS:C0406571 is_a: Orphanet:79386 ! Rare skin tumor or hamartoma [Term] id: Orphanet:199260 name: Calcified aponeurotic fibroma xref: ICD10:M72.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:199257 ! Superficial fibromatosis property_value: alternative:term "Juvenile aponeurotic fibromatosis" xsd:string property_value: alternative:term "Keasby tumor" xsd:string [Term] id: Orphanet:199267 name: Infantile digital fibromatosis xref: ICD10:M72.8 xref: SNOMED CT:399903008 xref: UMLS:C1318562 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:199257 ! Superficial fibromatosis property_value: alternative:term "Inclusion body fibromatosis" xsd:string property_value: alternative:term "Recurring digital fibrous tumor of childhood" xsd:string property_value: alternative:term "Reye tumor" xsd:string [Term] id: Orphanet:199276 name: Familial multiple lipomatosis xref: ICD10:E88.2 xref: OMIM:151900 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:183484 ! Genetic subcutaneous tissue disease relationship: part_of Orphanet:79382 ! Subcutaneous tissue disease [Term] id: Orphanet:199279 name: Familial angiolipomatosis xref: ICD10:D17.9 xref: OMIM:206550 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:183484 ! Genetic subcutaneous tissue disease relationship: part_of Orphanet:79382 ! Subcutaneous tissue disease [Term] id: Orphanet:199282 name: Harlequin syndrome xref: ICD10:G90.8 xref: MESH:C535634 xref: UMLS:C2029348 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:71859 ! Rare genetic neurological disease relationship: part_of Orphanet:98006 ! Rare neurologic disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress with normal ocular sympathetic innervations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur." xsd:string [Term] id: Orphanet:199285 name: Hereditary hypercarotenemia and vitamin A deficiency xref: ICD10:E50 xref: OMIM:115300 xref: OMIM:277350 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309833 ! Disorder of other vitamins and cofactors metabolism and transport property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date." xsd:string [Term] id: Orphanet:199293 name: Congenital microgastria xref: ICD10:Q40.2 xref: SNOMED CT:83714006 xref: UMLS:C0266150 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108963 ! Nonsyndromic gastroduodenal malformation property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital microgastria is a rare dysplastic condition where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies." xsd:string [Term] id: Orphanet:199296 name: Congenital isolated ACTH deficiency xref: ICD10:E23.6 xref: OMIM:201400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:95488 ! Nonacquired pituitary hormone deficiency [Term] id: Orphanet:199299 name: Late-onset isolated ACTH deficiency xref: ICD10:E23.6 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: part_of Orphanet:95502 ! Acquired pituitary hormone deficiency [Term] id: Orphanet:1993 name: Pai syndrome xref: ICD10:Q87.8 xref: OMIM:155145 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Median cleft of the upper lip - corpus callosum lipoma - cutaneous polyps" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." xsd:string [Term] id: Orphanet:199310 name: Tetragametic chimerism xref: ICD10:Q99.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:263749 ! X and Y chromosomal anomaly relationship: part_of Orphanet:325546 ! Sex chromosome disorder of sex development relationship: part_of Orphanet:325638 ! Syndrome with disorder of sex development of gynecological interest property_value: alternative:term "46,XX/46,XY chimerism" xsd:string [Term] id: Orphanet:199315 name: Familial clubfoot with or without associated lower limb anomalies xref: ICD10:Q66.8 xref: OMIM:119800 xref: OMIM:613618 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:109009 ! Syndrome with limb malformations as a major feature relationship: part_of Orphanet:364568 ! Dysostosis with limb anomaly as a major feature [Term] id: Orphanet:199318 name: 15q13.3 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:612001 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:166469 ! Chromosomal anomaly with epilepsy as a major feature relationship: part_of Orphanet:262119 ! Partial deletion of the long arm of chromosome 15 relationship: part_of Orphanet:98033 ! Rare neurologic disease with psychiatric involvement property_value: alternative:term "Del(15)(q13.3)" xsd:string property_value: alternative:term "Monosomy 15q13.3" xsd:string [Term] id: Orphanet:199323 name: Endophthalmitis xref: ICD10:H44.0 xref: ICD10:H44.1 xref: MEDDRA:10014801 xref: MESH:D009877 xref: SNOMED CT:1847009 xref: UMLS:C0014236 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:182214 ! Rare inflammatory eye disease [Term] id: Orphanet:199326 name: Isolated autosomal dominant hypomagnesemia, Glaudemans type xref: ICD10:E83.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:306522 ! Familial primary hypomagnesemia with normocalcuria property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, tetanic episodes, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal." xsd:string [Term] id: Orphanet:199329 name: Congenital myopathy, Paradas type xref: ICD10:G71.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:207073 ! Qualitative or quantitative defects of dysferlin relationship: part_of Orphanet:97242 ! Congenital muscular dystrophy [Term] id: Orphanet:199332 name: Endocrine-cerebro-osteodysplasia syndrome xref: ICD10:Q87.8 xref: OMIM:612651 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183533 ! Genetic multiple congenital anomalies/dysmorphic syndrome relationship: part_of Orphanet:364571 ! Dysostosis with limb and face anomalies as a major feature relationship: part_of Orphanet:68341 ! Multiple congenital anomalies/dysmorphic syndrome property_value: alternative:term "ECO syndrome" xsd:string [Term] id: Orphanet:199337 name: Pancreatic insufficiency - anemia - hyperostosis xref: OMIM:612714 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101937 ! Rare pancreatic disease relationship: part_of Orphanet:165661 ! Genetic pancreatic disease relationship: part_of Orphanet:2443 ! Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies relationship: part_of Orphanet:293830 ! Constitutional dyserythropoietic anemia relationship: part_of Orphanet:93451 ! Cleidocranial dysplasia and isolated cranial ossification defect [Term] id: Orphanet:199340 name: Muscular dystrophy, Selcen type xref: ICD10:G71.8 xref: OMIM:612954 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:593 ! Myofibrillar myopathy [Term] id: Orphanet:199343 name: EAST syndrome xref: OMIM:612780 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:182083 ! Channelopathy with epilepsy relationship: part_of Orphanet:183518 ! Rare hereditary ataxia relationship: part_of Orphanet:183592 ! Genetic renal tubular disease relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:93603 ! Rare renal tubular disease property_value: alternative:term "Seizures - sensorineural deafness - ataxia - intellectual deficit - electrolyte imbalance" xsd:string property_value: alternative:term "SeSAME syndrome" xsd:string [Term] id: Orphanet:199348 name: Thiamine-responsive encephalopathy xref: OMIM:607483 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:166472 ! Monogenic disease with epilepsy relationship: part_of Orphanet:298644 ! Disorder of thiamin metabolism and transport [Term] id: Orphanet:199351 name: Adult-onset dystonia-parkinsonism xref: ICD10:G24.1 xref: OMIM:612953 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:306666 ! Rare parkinsonian syndrome due to neurodegenerative disease relationship: part_of Orphanet:307055 ! Rare parkinsonian syndrome due to genetic neurodegenerative disease relationship: part_of Orphanet:329303 ! PLA2G6-associated neurodegeneration relationship: part_of Orphanet:98203 ! Combined dystonia property_value: alternative:term "Dystonia-parkinsonism, Paisan-Ruiz type" xsd:string property_value: alternative:term "PARK14" xsd:string property_value: alternative:term "PLA2G6-related dystonia-parkinsonism" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline." xsd:string [Term] id: Orphanet:199354 name: CARASIL xref: ICD10:F01.1 xref: ICD10:I67.8 xref: OMIM:600142 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183503 ! Genetic central nervous system and retinal vascular disease relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease property_value: alternative:term "Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy" xsd:string property_value: alternative:term "Maeda syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia." xsd:string [Term] id: Orphanet:1995 name: Cleft lip - retinopathy xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa property_value: alternative:term "Ausems-Wittebol Post-Hennekam syndrome" xsd:string [Term] id: Orphanet:199627 name: Atypical autism xref: ICD10:F84.1 xref: MEDDRA:10003747 xref: SNOMED CT:231536004 xref: UMLS:C0338986 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:168778 ! Rare pervasive developmental disorder property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "'Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder; see these terms) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. '" xsd:string [Term] id: Orphanet:199630 name: Isolated cerebellar vermis hypoplasia xref: ICD10:Q04.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98514 ! Malformation of the cerebellar vermis [Term] id: Orphanet:199633 name: Cerebral malformation is_a: Orphanet:108989 ! Nonsyndromic central nervous system malformation property_value: alternative:term "Brain malformation" xsd:string [Term] id: Orphanet:199639 name: Syndrome with corpus callosum agenesis /dysgenesis as a major feature is_a: Orphanet:108991 ! Syndrome with a central nervous system malformation as major feature [Term] id: Orphanet:199642 name: Isolated congenital microcephaly xref: ICD10:Q02 is_a: Orphanet:199633 ! Cerebral malformation is_a: Orphanet:269553 ! Genetic cerebral malformation [Term] id: Orphanet:199647 name: Isolated encephalocele xref: ICD10:Q01 xref: MEDDRA:10014617 xref: MESH:D004677 xref: SNOMED CT:55999004 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:268817 ! Cephalocele [Term] id: Orphanet:1997 name: Blepharo-cheilo-odontic syndrome xref: ICD10:Q87.8 xref: OMIM:119580 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:98570 ! Congenital ectropion property_value: alternative:term "BCD syndrome" xsd:string property_value: alternative:term "Blepharocheilodontic syndrome" xsd:string property_value: alternative:term "Clefting - ectropion - conical teeth" xsd:string property_value: alternative:term "Ectropion inferior - cleft lip and or palate" xsd:string property_value: alternative:term "Elsching syndrome" xsd:string property_value: alternative:term "Lagophthalmia - cleft lip and palate" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth." xsd:string [Term] id: Orphanet:199890 name: gamma-aminobutyric acid (GABA) A receptor, alpha 3 xref: ENSEMBL:ENSG00000011677 xref: GENATLAS:GABRA3 xref: HGNC:4077 xref: IUPHAR:406 xref: OMIM:305660 xref: REACTOME:P34903 xref: UNIPROTKB/SWISSPROT:P34903 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:79102 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thyrotoxic periodic paralysis property_value: alternative:term "GABA(A) receptor, alpha 3" xsd:string property_value: symbol "GABRA3" xsd:string [Term] id: Orphanet:199894 name: cadherin 15, type 1, M-cadherin (myotubule) xref: ENSEMBL:ENSG00000129910 xref: GENATLAS:CDH15 xref: HGNC:1754 xref: OMIM:114019 xref: REACTOME:P55291 xref: UNIPROTKB/SWISSPROT:P55291 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178469 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic intellectual deficit property_value: alternative:term "cadherin 15, M-cadherin (myotubule)" xsd:string property_value: alternative:term "CDH14" xsd:string property_value: alternative:term "CDH3" xsd:string property_value: symbol "CDH15" xsd:string [Term] id: Orphanet:199900 name: kin of IRRE like 3 (Drosophila) xref: ENSEMBL:ENSG00000149571 xref: GENATLAS:KIRREL3 xref: HGNC:23204 xref: OMIM:607761 xref: REACTOME:Q8IZU9 xref: UNIPROTKB/SWISSPROT:Q8IZU9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178469 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic intellectual deficit property_value: alternative:term "KIAA1867" xsd:string property_value: alternative:term "KIRRE" xsd:string property_value: alternative:term "NEPH2" xsd:string property_value: symbol "KIRREL3" xsd:string [Term] id: Orphanet:20 name: 3-hydroxy-3-methylglutaric aciduria xref: ICD10:E71.1 xref: OMIM:246450 xref: SNOMED CT:410059004 xref: UMLS:C1533587 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79163 ! Classic organic aciduria property_value: alternative:term "3-hydroxy-3-methylglutaryl-CoA lyase deficiency" xsd:string property_value: alternative:term "Hydroxymethylglutaric aciduria" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "3-hydroxy-3-methylglutaric aciduria is an organic aciduria due to 3-hydroxy-3-methylglutaryl-CoA-lyase deficiency, a key enzyme in ketogenesis and in leucine metabolism. Onset occurs in infancy with transient acidosis and hypoglycemia, hypotonia and vomiting triggered by periods of fasting or infections." xsd:string [Term] id: Orphanet:200037 name: Paroxysmal dystonia is_a: Orphanet:306768 ! Rare paroxysmal movement disorder is_a: Orphanet:68363 ! Rare dystonia [Term] id: Orphanet:2001 name: Cleft lip/palate - intestinal malrotation - cardiopathy xref: ICD10:Q87.8 xref: OMIM:601165 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "McPherson-Clemens syndrome" xsd:string [Term] id: Orphanet:2003 name: Cleft lip/palate - deafness - sacral lipoma is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Lowry-Yong syndrome" xsd:string [Term] id: Orphanet:2004 name: Laryngo-tracheo-esophageal cleft xref: ICD10:Q32.1 xref: OMIM:215800 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108993 ! Nonsyndromic respiratory or mediastinal malformation relationship: part_of Orphanet:156249 ! Larynx anomaly relationship: part_of Orphanet:182111 ! Respiratory malformation property_value: alternative:term "Laryngo-tracheo-esophageal diastema" xsd:string property_value: alternative:term "LC" xsd:string property_value: alternative:term "LTEC" xsd:string [Term] id: Orphanet:200418 name: Immunodeficiency with factor I anomaly xref: ICD10:D84.1 xref: OMIM:610984 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101992 ! Immunodeficiency due to a complement cascade protein anomaly [Term] id: Orphanet:200421 name: Immunodeficiency with factor H anomaly xref: ICD10:D84.1 xref: OMIM:609814 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101992 ! Immunodeficiency due to a complement cascade protein anomaly [Term] id: Orphanet:2005 name: Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia xref: MESH:C537851 xref: UMLS:C1859083 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:108993 ! Nonsyndromic respiratory or mediastinal malformation relationship: part_of Orphanet:156252 ! Tracheal anomaly relationship: part_of Orphanet:182111 ! Respiratory malformation property_value: alternative:term "Novak syndrome" xsd:string [Term] id: Orphanet:2006 name: Median cleft lip/mandibule xref: ICD10:Q36.1 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:141234 ! Median facial cleft property_value: alternative:term "Median cleft lower facial stage" xsd:string [Term] id: Orphanet:2007 name: Alar cartilages hypoplasia - coloboma - telecanthus xref: ICD10:Q75.8 xref: OMIM:203000 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit [Term] id: Orphanet:200717 name: solute carrier family 25, member 38 xref: ENSEMBL:ENSG00000144659 xref: GENATLAS:SLC25A38 xref: HGNC:26054 xref: OMIM:610819 xref: UNIPROTKB/SWISSPROT:Q96DW6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:260305 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive sideroblastic anemia property_value: alternative:term "FLJ20551" xsd:string property_value: symbol "SLC25A38" xsd:string [Term] id: Orphanet:2008 name: Acro-cardio-facial syndrome xref: ICD10:Q87.8 xref: OMIM:600460 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "ACFS" xsd:string property_value: alternative:term "CCGE syndrome" xsd:string property_value: alternative:term "Cleft palate - cardiac defect - genital anomalies - ectrodactyly" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit." xsd:string [Term] id: Orphanet:200946 name: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 xref: ENSEMBL:ENSG00000196136 xref: GENATLAS:SERPINA3 xref: HGNC:16 xref: OMIM:107280 xref: UNIPROTKB/SWISSPROT:P01011 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93594 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alpha-1-antichymotrypsin deficiency property_value: alternative:term "AACT" xsd:string property_value: alternative:term "ACT" xsd:string property_value: alternative:term "alpha-1-antichymotrypsin" xsd:string property_value: alternative:term "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3" xsd:string property_value: symbol "SERPINA3" xsd:string [Term] id: Orphanet:200951 name: aryl hydrocarbon receptor interacting protein xref: ENSEMBL:ENSG00000110711 xref: GENATLAS:AIP xref: HGNC:358 xref: OMIM:605555 xref: UNIPROTKB/SWISSPROT:O00170 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated pituitary adenoma relationship: Orphanet:317345 Orphanet:963 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Acromegaly property_value: alternative:term "ARA9" xsd:string property_value: alternative:term "aryl hydrocarbon receptor-interacting protein" xsd:string property_value: alternative:term "FKBP16" xsd:string property_value: alternative:term "XAP2" xsd:string property_value: symbol "AIP" xsd:string [Term] id: Orphanet:200995 name: cyclin-dependent kinase inhibitor 1B (p27, Kip1) xref: ENSEMBL:ENSG00000111276 xref: GENATLAS:CDKN1B xref: HGNC:1785 xref: OMIM:600778 xref: REACTOME:P46527 xref: UNIPROTKB/SWISSPROT:P46527 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:276152 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple endocrine neoplasia type 4 relationship: Orphanet:317343 Orphanet:652 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Multiple endocrine neoplasia type 1 property_value: alternative:term "KIP1" xsd:string property_value: alternative:term "P27KIP1" xsd:string property_value: symbol "CDKN1B" xsd:string [Term] id: Orphanet:201 name: Cowden syndrome xref: ICD10:Q85.8 xref: MEDDRA:10051906 xref: MESH:D006223 xref: OMIM:158350 xref: OMIM:612359 xref: OMIM:615106 xref: OMIM:615107 xref: OMIM:615108 xref: OMIM:615109 xref: SNOMED CT:58037000 xref: UMLS:C0018553 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:104010 ! Intestinal polyposis syndrome relationship: part_of Orphanet:271835 ! Genetic digestive tract tumor relationship: part_of Orphanet:294057 ! Rare nevus relationship: part_of Orphanet:306498 ! PTEN hamartoma tumor syndrome property_value: alternative:term "Cowden disease" xsd:string property_value: alternative:term "Multiple hamartoma syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group." xsd:string [Term] id: Orphanet:2010 name: Cleft palate - stapes fixation - oligodontia xref: OMIM:216300 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component [Term] id: Orphanet:201085 name: paired box 4 xref: ENSEMBL:ENSG00000106331 xref: GENATLAS:PAX4 xref: HGNC:8618 xref: OMIM:167413 xref: REACTOME:O43316 xref: UNIPROTKB/SWISSPROT:O43316 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:552 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MODY syndrome property_value: alternative:term "MODY9" xsd:string property_value: alternative:term "paired box gene 4" xsd:string property_value: symbol "PAX4" xsd:string [Term] id: Orphanet:201089 name: epidermal growth factor xref: ENSEMBL:ENSG00000138798 xref: GENATLAS:EGF xref: HGNC:3229 xref: OMIM:131530 xref: REACTOME:P01133 xref: UNIPROTKB/SWISSPROT:P01133 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:210159 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adult hepatocellular carcinoma relationship: Orphanet:317343 Orphanet:34527 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial primary hypomagnesemia with normocalcuria and normocalcemia property_value: alternative:term "Epidermal growth factor (beta-urogastrone)" xsd:string property_value: symbol "EGF" xsd:string [Term] id: Orphanet:201091 name: neurexin 1 xref: ENSEMBL:ENSG00000179915 xref: GENATLAS:NRXN1 xref: HGNC:8008 xref: OMIM:600565 xref: UNIPROTKB/SWISSPROT:P58400 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:221150 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pitt-Hopkins-like syndrome property_value: alternative:term "Hs.22998" xsd:string property_value: alternative:term "KIAA0578" xsd:string property_value: symbol "NRXN1" xsd:string [Term] id: Orphanet:201093 name: BRCA1 associated RING domain 1 xref: ENSEMBL:ENSG00000138376 xref: GENATLAS:BARD1 xref: HGNC:952 xref: OMIM:601593 xref: UNIPROTKB/SWISSPROT:Q99728 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:145 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary breast and ovarian cancer syndrome property_value: symbol "BARD1" xsd:string [Term] id: Orphanet:201095 name: guanylate cyclase activator 1B (retina) xref: ENSEMBL:ENSG00000112599 xref: GENATLAS:GUCA1B xref: HGNC:4679 xref: OMIM:602275 xref: REACTOME:Q9UMX6 xref: UNIPROTKB/SWISSPROT:Q9UMX6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "GCAP2" xsd:string property_value: alternative:term "RP48" xsd:string property_value: symbol "GUCA1B" xsd:string [Term] id: Orphanet:201101 name: iodotyrosine deiodinase xref: ENSEMBL:ENSG00000009765 xref: GENATLAS:IYD xref: HGNC:21071 xref: OMIM:612025 xref: REACTOME:Q6PHW0 xref: UNIPROTKB/SWISSPROT:Q6PHW0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:95716 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial thyroid dyshormonogenesis property_value: alternative:term "C6orf71" xsd:string property_value: alternative:term "chromosome 6 open reading frame 71" xsd:string property_value: alternative:term "DEHAL1" xsd:string property_value: alternative:term "dJ422F24.1" xsd:string property_value: symbol "IYD" xsd:string [Term] id: Orphanet:201108 name: glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 xref: ENSEMBL:ENSG00000182851 xref: GENATLAS:GPIHBP1 xref: HGNC:24945 xref: OMIM:612757 xref: UNIPROTKB/SWISSPROT:Q8IV16 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:411 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperlipoproteinemia type 1 relationship: Orphanet:317343 Orphanet:70470 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperlipoproteinemia type 5 property_value: alternative:term "GPI anchored high density lipoprotein binding protein 1" xsd:string property_value: alternative:term "GPI-HBP1" xsd:string property_value: alternative:term "LOC338328" xsd:string property_value: symbol "GPIHBP1" xsd:string [Term] id: Orphanet:201112 name: v-akt murine thymoma viral oncogene homolog 2 xref: ENSEMBL:ENSG00000105221 xref: GENATLAS:AKT2 xref: HGNC:392 xref: IUPHAR:1480 xref: OMIM:164731 xref: REACTOME:P31751 xref: UNIPROTKB/SWISSPROT:P31751 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:293964 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypoinsulinemic hypoglycemia and body hemihypertrophy relationship: Orphanet:317343 Orphanet:79085 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial partial lipodystrophy due to AKT2 mutations property_value: symbol "AKT2" xsd:string [Term] id: Orphanet:201114 name: myeloid differentiation primary response 88 xref: ENSEMBL:ENSG00000172936 xref: GENATLAS:MYD88 xref: HGNC:7562 xref: OMIM:602170 xref: REACTOME:Q99836 xref: UNIPROTKB/SWISSPROT:Q99836 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:183713 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pyogenic bacterial infections due to MyD88 deficiency relationship: Orphanet:317344 Orphanet:33226 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Waldenström macroglobulinemia property_value: alternative:term "Myeloid differentiation primary response gene (88)" xsd:string property_value: symbol "MYD88" xsd:string [Term] id: Orphanet:201152 name: baculoviral IAP repeat containing 3 xref: ENSEMBL:ENSG00000023445 xref: GENATLAS:BIRC3 xref: HGNC:591 xref: OMIM:601721 xref: REACTOME:Q13489 xref: UNIPROTKB/SWISSPROT:Q13489 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:52417 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MALT lymphoma property_value: alternative:term "API2" xsd:string property_value: alternative:term "apoptosis inhibitor 2" xsd:string property_value: alternative:term "Baculoviral IAP repeat-containing 3" xsd:string property_value: alternative:term "c-IAP2" xsd:string property_value: alternative:term "cIAP2" xsd:string property_value: alternative:term "hiap-1" xsd:string property_value: alternative:term "inhibitor of apoptosis protein 1" xsd:string property_value: alternative:term "MALT2" xsd:string property_value: alternative:term "mammalian IAP homolog C" xsd:string property_value: alternative:term "MIHC" xsd:string property_value: alternative:term "RNF49" xsd:string property_value: alternative:term "TNFR2-TRAF signaling complex protein" xsd:string property_value: symbol "BIRC3" xsd:string [Term] id: Orphanet:201163 name: immunoglobulin heavy locus xref: GENATLAS:IGH@ xref: HGNC:5477 xref: UNIPROTKB/SWISSPROT:Q6P089 is_a: Orphanet:C010 ! gene relationship: Orphanet:317344 Orphanet:52416 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mantle cell lymphoma relationship: Orphanet:317344 Orphanet:99860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor B-cell acute lymphoblastic leukemia relationship: Orphanet:317348 Orphanet:52417 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MALT lymphoma relationship: Orphanet:317348 Orphanet:545 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Follicular lymphoma property_value: alternative:term "IGH@" xsd:string property_value: alternative:term "IGHDY1" xsd:string property_value: symbol "IGH" xsd:string [Term] id: Orphanet:201171 name: forkhead box P1 xref: ENSEMBL:ENSG00000114861 xref: GENATLAS:FOXP1 xref: HGNC:3823 xref: OMIM:605515 xref: UNIPROTKB/SWISSPROT:Q9H334 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:52417 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MALT lymphoma relationship: Orphanet:317348 Orphanet:99860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor B-cell acute lymphoblastic leukemia property_value: alternative:term "12CC4" xsd:string property_value: alternative:term "fork head-related protein like B" xsd:string property_value: alternative:term "glutamine-rich factor 1" xsd:string property_value: alternative:term "hFKH1B" xsd:string property_value: alternative:term "HSPC215" xsd:string property_value: alternative:term "PAX5/FOXP1 fusion protein" xsd:string property_value: alternative:term "QRF1" xsd:string property_value: symbol "FOXP1" xsd:string [Term] id: Orphanet:201252 name: growth hormone secretagogue receptor xref: ENSEMBL:ENSG00000121853 xref: GENATLAS:GHSR xref: HGNC:4267 xref: IUPHAR:246 xref: OMIM:601898 xref: REACTOME:Q92847 xref: UNIPROTKB/SWISSPROT:Q92847 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314811 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Short stature due to GHSR deficiency property_value: symbol "GHSR" xsd:string [Term] id: Orphanet:201277 name: serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 xref: ENSEMBL:ENSG00000167711 xref: GENATLAS:SERPINF2 xref: HGNC:9075 xref: OMIM:613168 xref: REACTOME:P08697 xref: UNIPROTKB/SWISSPROT:P08697 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital alpha2 antiplasmin deficiency property_value: alternative:term "A2AP" xsd:string property_value: alternative:term "AAP" xsd:string property_value: alternative:term "alpha-2-antiplasmin" xsd:string property_value: alternative:term "ALPHA-2-PI" xsd:string property_value: alternative:term "alpha-2-plasmin inhibitor" xsd:string property_value: alternative:term "API" xsd:string property_value: alternative:term "PLI" xsd:string property_value: alternative:term "serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2" xsd:string property_value: symbol "SERPINF2" xsd:string [Term] id: Orphanet:201284 name: CD3g molecule, gamma (CD3-TCR complex) xref: ENSEMBL:ENSG00000160654 xref: GENATLAS:CD3G xref: HGNC:1675 xref: OMIM:186740 xref: REACTOME:P09693 xref: UNIPROTKB/SWISSPROT:P09693 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169082 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined immunodeficiency due to CD3gamma deficiency property_value: alternative:term "CD3g antigen, gamma polypeptide (TiT3 complex)" xsd:string property_value: symbol "CD3G" xsd:string [Term] id: Orphanet:201291 name: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 xref: ENSEMBL:ENSG00000170099 xref: GENATLAS:SERPINA6 xref: HGNC:1540 xref: OMIM:122500 xref: UNIPROTKB/SWISSPROT:P08185 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:199247 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Corticosteroid-binding globulin deficiency property_value: alternative:term "CBG" xsd:string property_value: alternative:term "corticosteroid binding globulin" xsd:string property_value: alternative:term "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6" xsd:string property_value: alternative:term "transcortin" xsd:string property_value: symbol "SERPINA6" xsd:string [Term] id: Orphanet:201295 name: ORAI calcium release-activated calcium modulator 1 xref: ENSEMBL:ENSG00000182500 xref: GENATLAS:ORAI1 xref: HGNC:25896 xref: OMIM:610277 xref: REACTOME:Q96D31 xref: UNIPROTKB/SWISSPROT:Q96D31 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:317428 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined immunodeficiency due to ORAI1 deficiency property_value: alternative:term "calcium release-activated calcium modulator 1" xsd:string property_value: alternative:term "CRACM1" xsd:string property_value: alternative:term "FLJ14466" xsd:string property_value: alternative:term "TMEM142A" xsd:string property_value: alternative:term "transmembrane protein 142A" xsd:string property_value: symbol "ORAI1" xsd:string [Term] id: Orphanet:2013 name: Cleft palate - large ears - small head xref: OMIM:181180 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome property_value: alternative:term "Say-Barber-Hobbs syndrome" xsd:string [Term] id: Orphanet:201300 name: stromal interaction molecule 1 xref: ENSEMBL:ENSG00000167323 xref: GENATLAS:STIM1 xref: HGNC:11386 xref: OMIM:605921 xref: REACTOME:Q13586 xref: UNIPROTKB/SWISSPROT:Q13586 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2593 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tubular aggregate myopathy relationship: Orphanet:317343 Orphanet:317430 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined immunodeficiency due to STIM1 deficiency property_value: alternative:term "D11S4896E" xsd:string property_value: alternative:term "GOK" xsd:string property_value: symbol "STIM1" xsd:string [Term] id: Orphanet:2014 name: Cleft palate xref: ICD10:Q35 xref: MEDDRA:10009269 xref: MESH:D002972 xref: OMIM:119540 xref: SNOMED CT:253986002 xref: SNOMED CT:87979003 xref: UMLS:C0008925 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:155832 ! Rare head and neck malformation relationship: part_of Orphanet:68329 ! Rare maxillo-facial surgical disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees." xsd:string [Term] id: Orphanet:201488 name: cytochrome c oxidase subunit IV isoform 2 (lung) xref: ENSEMBL:ENSG00000131055 xref: GENATLAS:COX4I2 xref: HGNC:16232 xref: OMIM:607976 xref: UNIPROTKB/SWISSPROT:Q96KJ9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:199337 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pancreatic insufficiency - anemia - hyperostosis property_value: alternative:term "COX4-2" xsd:string property_value: alternative:term "COX4B" xsd:string property_value: alternative:term "COX4L2" xsd:string property_value: alternative:term "COXIV-2" xsd:string property_value: alternative:term "cytochrome c oxidase subunit IV isoform 2" xsd:string property_value: alternative:term "cytochrome c oxidase subunit IV-like 2" xsd:string property_value: alternative:term "dJ857M17.2" xsd:string property_value: symbol "COX4I2" xsd:string [Term] id: Orphanet:201494 name: BCL2-associated athanogene 3 xref: ENSEMBL:ENSG00000151929 xref: GENATLAS:BAG3 xref: HGNC:939 xref: OMIM:603883 xref: UNIPROTKB/SWISSPROT:O95817 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317343 Orphanet:199340 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Muscular dystrophy, Selcen type property_value: symbol "BAG3" xsd:string [Term] id: Orphanet:201496 name: intestinal cell (MAK-like) kinase xref: ENSEMBL:ENSG00000112144 xref: GENATLAS:ICK xref: HGNC:21219 xref: IUPHAR:2038 xref: OMIM:612325 xref: UNIPROTKB/SWISSPROT:Q9UPZ9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:199332 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Endocrine-cerebro-osteodysplasia syndrome property_value: alternative:term "KIAA0936" xsd:string property_value: alternative:term "LCK2" xsd:string property_value: alternative:term "MGC46090" xsd:string property_value: alternative:term "MRK" xsd:string property_value: symbol "ICK" xsd:string [Term] id: Orphanet:2015 name: Cleft palate - short stature - vertebral anomalies xref: ICD10:Q87.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Mathieu-De Broca-Bony syndrome" xsd:string [Term] id: Orphanet:201502 name: paired-like homeodomain 1 xref: ENSEMBL:ENSG00000069011 xref: GENATLAS:PITX1 xref: HGNC:9004 xref: OMIM:602149 xref: UNIPROTKB/SWISSPROT:P78337 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1275 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brachydactyly - elbow wrist dysplasia relationship: Orphanet:317343 Orphanet:293150 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial clubfoot due to PITX1 point mutation relationship: Orphanet:317349 Orphanet:293144 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial clubfoot due to 5q31 microdeletion property_value: alternative:term "BFT" xsd:string property_value: alternative:term "paired-like homeodomain transcription factor 1" xsd:string property_value: alternative:term "POTX" xsd:string property_value: alternative:term "PTX1" xsd:string property_value: symbol "PITX1" xsd:string [Term] id: Orphanet:201507 name: succinate dehydrogenase complex assembly factor 1 xref: ENSEMBL:ENSG00000205138 xref: GENATLAS:SDHAF1 xref: HGNC:33867 xref: OMIM:612848 xref: UNIPROTKB/SWISSPROT:A6NFY7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3208 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated succinate-CoQ reductase deficiency property_value: alternative:term "LYR motif containing 8" xsd:string property_value: alternative:term "LYRM8" xsd:string property_value: symbol "SDHAF1" xsd:string [Term] id: Orphanet:201509 name: KIT ligand xref: ENSEMBL:ENSG00000049130 xref: GENATLAS:KITLG xref: HGNC:6343 xref: OMIM:184745 xref: REACTOME:P21583 xref: UNIPROTKB/SWISSPROT:P21583 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280628 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial progressive hyper- and hypopigmentation relationship: Orphanet:317343 Orphanet:79146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial progressive hyperpigmentation relationship: Orphanet:317345 Orphanet:363494 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Testicular non seminomatous germ cell tumor relationship: Orphanet:317345 Orphanet:842 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Testicular seminomatous germ cell tumor property_value: alternative:term "familial progressive hyperpigmentation 2" xsd:string property_value: alternative:term "FPH2" xsd:string property_value: alternative:term "Kitl" xsd:string property_value: alternative:term "KL-1" xsd:string property_value: alternative:term "mast cell growth factor" xsd:string property_value: alternative:term "MGF" xsd:string property_value: alternative:term "SCF" xsd:string property_value: alternative:term "SF" xsd:string property_value: alternative:term "steel factor" xsd:string property_value: alternative:term "stem cell factor" xsd:string property_value: symbol "KITLG" xsd:string [Term] id: Orphanet:201516 name: ADAM metallopeptidase domain 9 xref: ENSEMBL:ENSG00000168615 xref: GENATLAS:ADAM9 xref: HGNC:216 xref: IUPHAR:1657 xref: OMIM:602713 xref: REACTOME:Q13443 xref: UNIPROTKB/SWISSPROT:Q13443 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone rod dystrophy property_value: alternative:term "a disintegrin and metalloproteinase domain 9 (meltrin gamma)" xsd:string property_value: alternative:term "ADAM metallopeptidase domain 9 (meltrin gamma)" xsd:string property_value: alternative:term "cone rod dystrophy 9" xsd:string property_value: alternative:term "CORD9" xsd:string property_value: alternative:term "KIAA0021" xsd:string property_value: alternative:term "MCMP" xsd:string property_value: alternative:term "MDC9" xsd:string property_value: alternative:term "meltrin gamma" xsd:string property_value: alternative:term "Mltng" xsd:string property_value: symbol "ADAM9" xsd:string [Term] id: Orphanet:201522 name: interferon-related developmental regulator 1 xref: ENSEMBL:ENSG00000006652 xref: GENATLAS:IFRD1 xref: HGNC:5456 xref: OMIM:603502 xref: UNIPROTKB/SWISSPROT:O00458 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98771 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 18 property_value: alternative:term "PC4" xsd:string property_value: alternative:term "TIS7" xsd:string property_value: symbol "IFRD1" xsd:string [Term] id: Orphanet:201526 name: coenzyme Q9 xref: ENSEMBL:ENSG00000088682 xref: GENATLAS:COQ9 xref: HGNC:25302 xref: OMIM:612837 xref: UNIPROTKB/SWISSPROT:O75208 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319678 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease property_value: alternative:term "C16orf49" xsd:string property_value: alternative:term "chromosome 16 open reading frame 49" xsd:string property_value: alternative:term "Coenzyme Q9 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "coenzyme Q9 homolog (yeast)" xsd:string property_value: alternative:term "DKFZP434K046" xsd:string property_value: symbol "COQ9" xsd:string [Term] id: Orphanet:201531 name: NADH dehydrogenase (ubiquinone) complex I, assembly factor 3 xref: ENSEMBL:ENSG00000178057 xref: GENATLAS:NDUFAF3 xref: HGNC:29918 xref: OMIM:612911 xref: UNIPROTKB/SWISSPROT:Q9BU61 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency property_value: alternative:term "2P1" xsd:string property_value: alternative:term "C3orf60" xsd:string property_value: alternative:term "chromosome 3 open reading frame 60" xsd:string property_value: alternative:term "DKFZP564J0123" xsd:string property_value: alternative:term "E3-3" xsd:string property_value: alternative:term "MGC10527" xsd:string property_value: alternative:term "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3" xsd:string property_value: symbol "NDUFAF3" xsd:string [Term] id: Orphanet:201538 name: tubulin, beta 2B class IIb xref: ENSEMBL:ENSG00000137285 xref: GENATLAS:TUBB2B xref: HGNC:30829 xref: OMIM:612850 xref: REACTOME:Q9BVA1 xref: UNIPROTKB/SWISSPROT:Q9BVA1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:300573 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Polymicrogyria due to TUBB2B mutation relationship: Orphanet:317343 Orphanet:45358 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital fibrosis of extraocular muscles property_value: alternative:term "bA506K6.1" xsd:string property_value: alternative:term "class IIb beta-tubulin" xsd:string property_value: alternative:term "DKFZp566F223" xsd:string property_value: alternative:term "MGC8685" xsd:string property_value: alternative:term "Tubulin, beta 2B" xsd:string property_value: symbol "TUBB2B" xsd:string [Term] id: Orphanet:201543 name: obscurin-like 1 xref: ENSEMBL:ENSG00000124006 xref: GENATLAS:OBSL1 xref: HGNC:29092 xref: OMIM:610991 xref: UNIPROTKB/SWISSPROT:O75147 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2616 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 3M syndrome property_value: alternative:term "KIAA0657" xsd:string property_value: symbol "OBSL1" xsd:string [Term] id: Orphanet:201546 name: kelch-like family member 7 xref: ENSEMBL:ENSG00000122550 xref: GENATLAS:KLHL7 xref: HGNC:15646 xref: OMIM:611119 xref: UNIPROTKB/SWISSPROT:Q8IXQ5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "Kelch-like 7 (Drosophila)" xsd:string property_value: alternative:term "KLHL6" xsd:string property_value: alternative:term "retinitis pigmentosa 42" xsd:string property_value: alternative:term "RP42" xsd:string property_value: alternative:term "SBBI26" xsd:string property_value: symbol "KLHL7" xsd:string [Term] id: Orphanet:201551 name: glypican 6 xref: ENSEMBL:ENSG00000183098 xref: GENATLAS:GPC6 xref: HGNC:4454 xref: OMIM:604404 xref: REACTOME:Q9Y625 xref: UNIPROTKB/SWISSPROT:Q9Y625 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93329 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive omodysplasia property_value: alternative:term "glypican proteoglycan 6" xsd:string property_value: symbol "GPC6" xsd:string [Term] id: Orphanet:201553 name: EMG1 N1-specific pseudouridine methyltransferase xref: ENSEMBL:ENSG00000126749 xref: GENATLAS:EMG1 xref: HGNC:16912 xref: OMIM:611531 xref: UNIPROTKB/SWISSPROT:Q92979 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1270 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bowen-Conradi syndrome property_value: alternative:term "C2F" xsd:string property_value: alternative:term "EMG1 nucleolar protein homolog (S. cerevisiae)" xsd:string property_value: alternative:term "Grcc2f" xsd:string property_value: alternative:term "NEP1" xsd:string property_value: symbol "EMG1" xsd:string [Term] id: Orphanet:201560 name: ribonuclease T2 xref: ENSEMBL:ENSG00000026297 xref: GENATLAS:RNASET2 xref: HGNC:21686 xref: OMIM:612944 xref: UNIPROTKB/SWISSPROT:O00584 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:85136 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cystic leukoencephalopathy without megalencephaly property_value: alternative:term "bA514O12.3" xsd:string property_value: alternative:term "FLJ10907" xsd:string property_value: alternative:term "RNASE6PL" xsd:string property_value: symbol "RNASET2" xsd:string [Term] id: Orphanet:201567 name: translational activator of mitochondrially encoded cytochrome c oxidase I xref: ENSEMBL:ENSG00000136463 xref: GENATLAS:CCDC44 xref: HGNC:24316 xref: OMIM:612958 xref: UNIPROTKB/SWISSPROT:Q9BSH4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:70474 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with cardiomyopathy property_value: alternative:term "CCDC44" xsd:string property_value: alternative:term "coiled-coil domain containing 44" xsd:string property_value: symbol "TACO1" xsd:string [Term] id: Orphanet:201570 name: SAM domain and HD domain 1 xref: ENSEMBL:ENSG00000101347 xref: GENATLAS:SAMHD1 xref: HGNC:15925 xref: OMIM:606754 xref: UNIPROTKB/SWISSPROT:Q9Y3Z3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:51 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Aicardi-Goutières syndrome relationship: Orphanet:317343 Orphanet:90280 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chilblain lupus property_value: alternative:term "AGS5" xsd:string property_value: alternative:term "Aicardi-Goutieres syndrome 5" xsd:string property_value: alternative:term "HD domain containing 1" xsd:string property_value: alternative:term "HDDC1" xsd:string property_value: alternative:term "Mg11" xsd:string property_value: alternative:term "monocyte protein 5" xsd:string property_value: alternative:term "MOP-5" xsd:string property_value: alternative:term "SBBI88" xsd:string property_value: symbol "SAMHD1" xsd:string [Term] id: Orphanet:201587 name: fibroblast growth factor 9 xref: ENSEMBL:ENSG00000102678 xref: GENATLAS:FGF9 xref: HGNC:3687 xref: OMIM:600921 xref: REACTOME:P31371 xref: UNIPROTKB/SWISSPROT:P31371 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3237 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple synostoses syndrome property_value: alternative:term "Fibroblast growth factor 9 (glia-activating factor)" xsd:string property_value: alternative:term "glia-activating factor" xsd:string property_value: symbol "FGF9" xsd:string [Term] id: Orphanet:201589 name: hepatocyte growth factor (hepapoietin A; scatter factor) xref: ENSEMBL:ENSG00000019991 xref: GENATLAS:HGF xref: HGNC:4893 xref: OMIM:142409 xref: REACTOME:P14210 xref: UNIPROTKB/SWISSPROT:P14210 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "'Hepatocyte growth factor (hepapoietin A; scatter factor)'" xsd:string property_value: alternative:term "deafness, autosomal recessive 39" xsd:string property_value: alternative:term "DFNB39" xsd:string property_value: alternative:term "F-TCF" xsd:string property_value: alternative:term "fibroblast-derived tumor cytotoxic factor" xsd:string property_value: alternative:term "hepatopoietin A" xsd:string property_value: alternative:term "HGFB" xsd:string property_value: alternative:term "HPTA" xsd:string property_value: alternative:term "lung fibroblast-derived mitogen" xsd:string property_value: alternative:term "scatter factor" xsd:string property_value: alternative:term "SF" xsd:string property_value: symbol "HGF" xsd:string [Term] id: Orphanet:201595 name: pyrroline-5-carboxylate reductase 1 xref: ENSEMBL:ENSG00000183010 xref: GENATLAS:PYCR1 xref: HGNC:9721 xref: OMIM:179035 xref: REACTOME:P32322 xref: UNIPROTKB/SWISSPROT:P32322 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2078 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Geroderma osteodysplastica relationship: Orphanet:317343 Orphanet:293633 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! PYCR1-related DeBarsy syndrome relationship: Orphanet:317343 Orphanet:357064 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive cutis laxa type 2B property_value: alternative:term "P5C" xsd:string property_value: symbol "PYCR1" xsd:string [Term] id: Orphanet:2016 name: Cleft palate-lateral synechia syndrome xref: ICD10:Q87.8 xref: OMIM:119550 xref: SNOMED CT:403772000 xref: UMLS:C0795898 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit [Term] id: Orphanet:2017 name: Sternal cleft xref: ICD10:Q76.7 xref: MESH:C537489 xref: SNOMED CT:54008006 xref: UMLS:C0265696 xref: UMLS:C2931507 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:180776 ! Nonsyndromic diaphragmatic or thoracic malformation relationship: part_of Orphanet:182108 ! Thoracic malformation property_value: alternative:term "Cleft sternum" xsd:string property_value: alternative:term "Sternum bifidum" xsd:string [Term] id: Orphanet:201770 name: activating transcription factor 1 xref: ENSEMBL:ENSG00000123268 xref: GENATLAS:ATF1 xref: HGNC:783 xref: OMIM:123803 xref: REACTOME:P18846 xref: UNIPROTKB/SWISSPROT:P18846 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:97338 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Melanoma of soft part property_value: alternative:term "TREB36" xsd:string property_value: symbol "ATF1" xsd:string [Term] id: Orphanet:2019 name: Femur-fibula-ulna complex xref: ICD10:Q72.8 xref: MEDDRA:10068448 xref: MESH:C537918 xref: OMIM:228200 xref: UMLS:C2363814 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:294957 ! Dysostosis with combined reduction defects of upper and lower limbs property_value: alternative:term "Femur-fibula-ulna dysostosis" xsd:string property_value: alternative:term "Femur-fibula-ulna syndrome" xsd:string property_value: alternative:term "FFU complex" xsd:string property_value: alternative:term "PFFD" xsd:string property_value: alternative:term "Proximal focal femoral deficiency" xsd:string [Term] id: Orphanet:202 name: Crandall syndrome xref: SNOMED CT:278098005 xref: UMLS:C0432348 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79367 ! Syndromic hair shaft abnormality property_value: alternative:term "Alopecia - deafness - hypogonadism" xsd:string [Term] id: Orphanet:2020 name: Congenital fiber-type disproportion myopathy xref: ICD10:G71.2 xref: OMIM:255310 xref: OMIM:300580 xref: SNOMED CT:240084007 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:209059 ! Qualitative or quantitative defects of alpha-actin relationship: part_of Orphanet:209193 ! Qualitative or quantitative defects of selenoprotein N1 relationship: part_of Orphanet:284790 ! Qualitative or quantitative defects of tropomyosin relationship: part_of Orphanet:97245 ! Congenital myopathy property_value: alternative:term "CFTDM" xsd:string [Term] id: Orphanet:2021 name: Fibrochondrogenesis xref: ICD10:Q77.7 xref: OMIM:228520 xref: OMIM:614524 xref: SNOMED CT:17144009 xref: UMLS:C0265282 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93422 ! Type 11 collagen-related bone disorder relationship: part_of Orphanet:93438 ! Mesomelic and rhizo-mesomelic dysplasia [Term] id: Orphanet:2022 name: Endomyocardial fibroelastosis xref: ICD10:I42.4 xref: OMIM:226000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:217604 ! Dilated cardiomyopathy relationship: part_of Orphanet:217607 ! Familial dilated cardiomyopathy relationship: part_of Orphanet:217632 ! Restrictive cardiomyopathy relationship: part_of Orphanet:217635 ! Familial restrictive cardiomyopathy [Term] id: Orphanet:2023 name: Malignant fibrous histiocytoma xref: MEDDRA:10025552 xref: MESH:D051677 xref: SNOMED CT:34360000 xref: SNOMED CT:443439001 xref: UMLS:C0334463 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:223727 ! Bone sarcoma relationship: part_of Orphanet:3394 ! Soft tissue sarcoma relationship: part_of Orphanet:71209 ! Rare soft tissue tumor [Term] id: Orphanet:2024 name: Hereditary gingival fibromatosis xref: ICD10:K06.1 xref: OMIM:135300 xref: OMIM:605544 xref: OMIM:609955 xref: OMIM:611010 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:164001 ! Rare odontal or periodontal disorder relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component property_value: alternative:term "Autosomal dominant gingival fibromatosis" xsd:string property_value: alternative:term "Autosomal dominant gingival hyperplasia" xsd:string property_value: alternative:term "Hereditary gingival hyperplasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that occurs generally with the eruption of the permanent dentition, more rarely of the primary, or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of varying severity of the gingival tissues. It can be isolated with autosomal dominant inheritance or as part of a syndrome." xsd:string [Term] id: Orphanet:2025 name: Gingival fibromatosis - facial dysmorphism xref: OMIM:228560 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism." xsd:string [Term] id: Orphanet:2026 name: Gingival fibromatosis-hypertrichosis syndrome xref: ICD10:L68.8 xref: OMIM:135400 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:79365 ! Hypertrichosis relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Hirsutism-congenital gingival hyperplasia syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Gingival fibromatosis - hypertrichosis is a rare autosomal dominant disorder characterized by generalized enlargement of the gingivae occurring at birth or during childhood that is associated with generalized hypertrichosis developping at birth, during the first years of life, or even at puberty and prominently affecting the face, upper limbs, and midback." xsd:string [Term] id: Orphanet:2027 name: Gingival fibromatosis - progressive deafness xref: ICD10:H90.3 xref: OMIM:135550 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Jones syndrome" xsd:string [Term] id: Orphanet:2028 name: Juvenile hyaline fibromatosis xref: ICD10:M72.8 xref: MESH:D057770 xref: OMIM:228600 xref: SNOMED CT:238861002 xref: UMLS:C0406578 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183472 ! Genetic dermis disorder relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:71209 ! Rare soft tissue tumor relationship: part_of Orphanet:79381 ! Unclassified dermis disorder relationship: part_of Orphanet:93449 ! Primary osteolysis property_value: alternative:term "Murray-Puretic-Drescher syndrome" xsd:string property_value: alternative:term "Puretic syndrome" xsd:string [Term] id: Orphanet:2029 name: Multiple non-ossifying fibromatosis xref: ICD10:M89.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components property_value: alternative:term "Jaffe-Campanacci syndrome" xsd:string [Term] id: Orphanet:202940 name: Anomaly of puberty or/and menstrual cycle of genetic origin is_a: Orphanet:183731 ! Rare genetic gynecological and obstetrical diseases [Term] id: Orphanet:202948 name: Syndromic microphthalmia is_a: Orphanet:98555 ! Anophthalmia - microphthalmia [Term] id: Orphanet:2030 name: Fibrosarcoma xref: MEDDRA:10016632 xref: MESH:D005354 xref: OMIM:117600 xref: SNOMED CT:53654007 xref: UMLS:C0016057 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:223727 ! Bone sarcoma relationship: part_of Orphanet:3394 ! Soft tissue sarcoma [Term] id: Orphanet:2032 name: Idiopathic pulmonary fibrosis xref: ICD10:J84.1 xref: MEDDRA:10021240 xref: MESH:D054990 xref: OMIM:178500 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:98300 ! Idiopathic interstitial pneumonia property_value: alternative:term "UIP" xsd:string property_value: alternative:term "Usual interstitial pneumonia" xsd:string [Term] id: Orphanet:2034 name: Filariasis xref: ICD10:B72 xref: ICD10:B73 xref: ICD10:B74 xref: MEDDRA:10016674 xref: MESH:D005368 xref: UMLS:C0016085 is_a: Orphanet:163588 ! Rare parasitic disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:2035 name: Lymphatic filariasis xref: ICD10:B74.0 xref: ICD10:B74.1 xref: ICD10:B74.2 xref: MEDDRA:10016675 xref: SNOMED CT:240820001 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2034 ! Filariasis [Term] id: Orphanet:2036 name: Scalp-ear-nipple syndrome xref: ICD10:Q87.8 xref: MESH:C536623 xref: OMIM:181270 xref: UMLS:C1867020 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:180173 ! Deficient breast volume or number relationship: part_of Orphanet:183481 ! Genetic mixed dermis disorder relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:79380 ! Mixed dermis disorder property_value: alternative:term "Finlay-Marks syndrome" xsd:string [Term] id: Orphanet:2037 name: Aorta-pulmonary artery fistula xref: ICD10:Q21.4 xref: MESH:C537782 xref: UMLS:C2931610 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:2445 ! Conotruncal heart malformations [Term] id: Orphanet:2038 name: Pulmonary arteriovenous fistula xref: ICD10:Q25.7 xref: MEDDRA:10037332 xref: OMIM:265140 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108993 ! Nonsyndromic respiratory or mediastinal malformation relationship: part_of Orphanet:98731 ! Arteriovenous fistula property_value: alternative:term "Pulmonar arteriovenous aneurysm" xsd:string [Term] id: Orphanet:2039 name: Systemic arteriovenous fistula xref: ICD10:Q27.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98731 ! Arteriovenous fistula [Term] id: Orphanet:204 name: Creutzfeldt-Jakob disease xref: ICD10:A81.0 xref: MEDDRA:10011384 xref: MESH:D007562 xref: OMIM:123400 xref: SNOMED CT:792004 xref: UMLS:C0022336 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:306695 ! Miscellaneous movement disorder due to neurodegenerative disease relationship: part_of Orphanet:56970 ! Transmissible spongiform encephalopathy [Term] id: Orphanet:2040 name: Congenital bronchobiliary fistula xref: ICD10:Q32.4 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101941 ! Rare biliary tract disease relationship: part_of Orphanet:108971 ! Nonsyndromic visceral malformation relationship: part_of Orphanet:108993 ! Nonsyndromic respiratory or mediastinal malformation relationship: part_of Orphanet:182111 ! Respiratory malformation [Term] id: Orphanet:2041 name: Coronary arterial fistulas xref: ICD10:Q24.5 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:1081 ! Coronary artery congenital malformation property_value: alternative:term "Coronaro-cardiac fistula" xsd:string property_value: alternative:term "Coronary arterial malformations" xsd:string [Term] id: Orphanet:2042 name: Tracheo-esophageal fistula - hypospadias is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:108993 ! Nonsyndromic respiratory or mediastinal malformation relationship: part_of Orphanet:108995 ! Syndromic respiratory or mediastinal malformation relationship: part_of Orphanet:156249 ! Larynx anomaly relationship: part_of Orphanet:156252 ! Tracheal anomaly relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:182111 ! Respiratory malformation relationship: part_of Orphanet:183622 ! Genetic respiratory malformation [Term] id: Orphanet:2044 name: Floating-Harbor syndrome xref: ICD10:Q87.8 xref: MESH:C537062 xref: OMIM:136140 xref: SNOMED CT:312214005 xref: UMLS:C0729582 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139021 ! Malformation syndrome with short stature relationship: part_of Orphanet:183570 ! Genetic malformation syndrome with short stature relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Leisti-Hollister-Rimoin syndrome" xsd:string [Term] id: Orphanet:204411 name: ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) xref: ENSEMBL:ENSG00000128340 xref: GENATLAS:RAC2 xref: HGNC:9802 xref: OMIM:602049 xref: REACTOME:P15153 xref: UNIPROTKB/SWISSPROT:P15153 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:183707 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neutrophil immunodeficiency syndrome property_value: alternative:term "EN-7" xsd:string property_value: symbol "RAC2" xsd:string [Term] id: Orphanet:204415 name: neutrophil cytosolic factor 4, 40kDa xref: ENSEMBL:ENSG00000100365 xref: GENATLAS:NCF4 xref: HGNC:7662 xref: OMIM:601488 xref: REACTOME:Q15080 xref: UNIPROTKB/SWISSPROT:Q15080 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:379 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chronic granulomatous disease property_value: alternative:term "neutrophil cytosolic factor 4 (40kD)" xsd:string property_value: alternative:term "neutrophil NADPH oxidase factor 4" xsd:string property_value: alternative:term "p40phox" xsd:string property_value: alternative:term "SH3PXD4" xsd:string property_value: symbol "NCF4" xsd:string [Term] id: Orphanet:204452 name: beta-carotene 15,15'-monooxygenase 1 xref: ENSEMBL:ENSG00000135697 xref: GENATLAS:BCMO1 xref: HGNC:13815 xref: OMIM:605748 xref: REACTOME:Q9HAY6 xref: UNIPROTKB/SWISSPROT:Q9HAY6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:199285 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary hypercarotenemia and vitamin A deficiency property_value: alternative:term "BCDO" xsd:string property_value: alternative:term "BCDO1" xsd:string property_value: alternative:term "BCMO" xsd:string property_value: alternative:term "beta-carotene 15, 15'-dioxygenase 1" xsd:string property_value: alternative:term "FLJ10730" xsd:string property_value: symbol "BCMO1" xsd:string [Term] id: Orphanet:2045 name: FLOTCH syndrome xref: ICD10:L60.8 xref: MESH:C537065 xref: UMLS:C2931411 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:79370 ! Syndromic nail anomaly property_value: alternative:term "Leukonychia totalis - trichilemmal cysts - ciliary dystrophy" xsd:string [Term] id: Orphanet:2047 name: Flynn-Aird syndrome xref: ICD10:Q87.8 xref: MESH:C537066 xref: OMIM:136300 xref: SNOMED CT:239056006 xref: UMLS:C0343108 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:71859 ! Rare genetic neurological disease relationship: part_of Orphanet:79389 ! Premature aging relationship: part_of Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:205 name: Crigler-Najjar syndrome xref: ICD10:E80.5 xref: MEDDRA:10011386 xref: MESH:D003414 xref: OMIM:218800 xref: OMIM:606785 xref: SNOMED CT:28259009 xref: UMLS:C0010324 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:309816 ! Disorder of bilirubin metabolism and excretion property_value: alternative:term "Bilirubin uridinediphosphate glucuronosyltransferase deficiency" xsd:string property_value: alternative:term "Bilirubin-UGT deficiency" xsd:string property_value: alternative:term "Hereditary unconjugated hyperbilirubinemia" xsd:string property_value: alternative:term "UGT deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2." xsd:string [Term] id: Orphanet:2050 name: Cole-Carpenter syndrome xref: ICD10:Q78.0 xref: MESH:C535963 xref: OMIM:112240 xref: UMLS:C1862178 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:93446 ! Primary bone dysplasia with decreased bone density property_value: alternative:term "Bone fragility - craniosynostosis - proptosis - hydrocephalus" xsd:string [Term] id: Orphanet:2052 name: Fraser syndrome xref: ICD10:Q87.0 xref: MESH:D058497 xref: OMIM:219000 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:98562 ! Cryptophthalmia property_value: alternative:term "Cryptophthalmos-syndactyly syndrome" xsd:string [Term] id: Orphanet:2053 name: Freeman-Sheldon syndrome xref: ICD10:Q87.0 xref: MESH:C535483 xref: OMIM:193700 xref: OMIM:277720 xref: SNOMED CT:52616002 xref: UMLS:C0265224 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:97120 ! Distal arthrogryposis property_value: alternative:term "Craniocarpotarsal dysplasia" xsd:string property_value: alternative:term "Craniocarpotarsal dystrophy" xsd:string property_value: alternative:term "Distal arthrogryposis type 2A" xsd:string property_value: alternative:term "Whistling face syndrome" xsd:string [Term] id: Orphanet:2054 name: Osteochondritis of tarsal/metatarsal bone xref: ICD10:M93.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182231 ! Rare rheumatologic disease relationship: part_of Orphanet:2764 ! Osteochondritis dissecans property_value: alternative:term "Aseptic necrosis of the tarsal bone" xsd:string property_value: alternative:term "Osteochondrosis of the tarsal bone" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Osteochondritis of tarsal/metatarsal bone is a very rare form of osteochondritis dissecans characterized by generally self-limiting bone lesions that may cause pain and swelling often localized at the tarsal navicular bone" xsd:string [Term] id: Orphanet:2055 name: Growth deficiency - brachydactyly - dysmorphism xref: ICD10:Q87.0 xref: OMIM:609640 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Frias syndrome" xsd:string [Term] id: Orphanet:205584 name: natriuretic peptide A xref: ENSEMBL:ENSG00000175206 xref: GENATLAS:NPPA xref: HGNC:7939 xref: OMIM:108780 xref: REACTOME:P01160 xref: UNIPROTKB/SWISSPROT:P01160 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial atrial fibrillation property_value: alternative:term "ANP" xsd:string property_value: alternative:term "Natriuretic peptide precursor A" xsd:string property_value: alternative:term "PND" xsd:string property_value: symbol "NPPA" xsd:string [Term] id: Orphanet:205590 name: glutamate receptor, ionotropic, kainate 2 xref: ENSEMBL:ENSG00000164418 xref: GENATLAS:GRIK2 xref: HGNC:4580 xref: IUPHAR:451 xref: OMIM:138244 xref: REACTOME:Q13002 xref: UNIPROTKB/SWISSPROT:Q13002 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88616 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive nonsyndromic intellectual deficit property_value: alternative:term "GluK2" xsd:string property_value: alternative:term "GLUR6" xsd:string property_value: alternative:term "MRT6" xsd:string property_value: symbol "GRIK2" xsd:string [Term] id: Orphanet:205594 name: NHP2 ribonucleoprotein xref: ENSEMBL:ENSG00000145912 xref: GENATLAS:NHP2 xref: HGNC:14377 xref: OMIM:606470 xref: REACTOME:Q9NX24 xref: UNIPROTKB/SWISSPROT:Q9NX24 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1775 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dyskeratosis congenita property_value: alternative:term "FLJ20479" xsd:string property_value: alternative:term "NHP2 ribonucleoprotein homolog (yeast)" xsd:string property_value: alternative:term "NOLA2" xsd:string property_value: alternative:term "nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs)" xsd:string property_value: symbol "NHP2" xsd:string [Term] id: Orphanet:2056 name: Essential fructosuria xref: ICD10:E74.1 xref: MESH:C538068 xref: OMIM:229800 xref: SNOMED CT:24338009 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:308463 ! Disorder of fructose metabolism property_value: alternative:term "Fructokinase deficiency" xsd:string property_value: alternative:term "Ketohexokinase deficiency" xsd:string [Term] id: Orphanet:2057 name: Blepharophimosis - ptosis - esotropia - syndactyly - short stature xref: ICD10:Q87.8 xref: OMIM:210745 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:98578 ! Ptosis property_value: alternative:term "Frydman-Cohen-Karmon syndrome" xsd:string [Term] id: Orphanet:2059 name: Fryns syndrome xref: ICD10:Q87.8 xref: MESH:C538070 xref: OMIM:229850 xref: UMLS:C0220730 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:108979 ! Syndromic diaphragmatic or abdominal wall malformation relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Diaphragmatic hernia - abnormal face - distal limb anomalies" xsd:string [Term] id: Orphanet:205928 name: prenyl (decaprenyl) diphosphate synthase, subunit 2 xref: ENSEMBL:ENSG00000164494 xref: GENATLAS:PDSS2 xref: HGNC:23041 xref: OMIM:610564 xref: REACTOME:Q86YH6 xref: UNIPROTKB/SWISSPROT:Q86YH6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:255249 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with nephrotic syndrome property_value: alternative:term "bA59I9.3" xsd:string property_value: alternative:term "C6orf210" xsd:string property_value: alternative:term "chromosome 6 open reading frame 210" xsd:string property_value: symbol "PDSS2" xsd:string [Term] id: Orphanet:205932 name: Sec23 homolog B (S. cerevisiae) xref: ENSEMBL:ENSG00000101310 xref: GENATLAS:SEC23B xref: HGNC:10702 xref: OMIM:610512 xref: UNIPROTKB/SWISSPROT:Q15437 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98873 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital dyserythropoietic anemia type II property_value: alternative:term "CDA-II" xsd:string property_value: alternative:term "CDAII" xsd:string property_value: alternative:term "CDAN2" xsd:string property_value: alternative:term "congenital dyserythropoietic anemia, type II" xsd:string property_value: alternative:term "HEMPAS" xsd:string property_value: alternative:term "Sec23 (S. cerevisiae) homolog B" xsd:string property_value: symbol "SEC23B" xsd:string [Term] id: Orphanet:205934 name: mitochondrially encoded tRNA proline xref: ENSEMBL:ENSG00000210196 xref: GENATLAS:MT-TP xref: HGNC:7494 xref: OMIM:590075 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:551 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MERRF syndrome property_value: alternative:term "MTTP" xsd:string property_value: alternative:term "tRNA proline" xsd:string property_value: alternative:term "trnP" xsd:string property_value: symbol "MT-TP" xsd:string [Term] id: Orphanet:2062 name: Progressive non-infectious anterior vertebral fusion xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:93454 ! Dysostosis with predominant vertebral and costal involvement property_value: alternative:term "Copenhagen syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features." xsd:string [Term] id: Orphanet:2063 name: Splenogonadal fusion - limb defects - micrognathia xref: ICD10:Q87.8 xref: OMIM:183300 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:108973 ! Syndromic visceral malformation relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects [Term] id: Orphanet:2064 name: Posterior fusion of lumbosacral vertebrae - blepharoptosis xref: MESH:C536344 xref: OMIM:192800 xref: UMLS:C1860464 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Faulk-Epstein-Jones syndrome" xsd:string [Term] id: Orphanet:206428 name: Hypoxanthine-guanine phosphoribosyltransferase deficiency xref: ICD10:E79.8 is_a: Orphanet:182076 ! Syndromic neurometabolic disease with X-linked intellectual deficit is_a: Orphanet:68385 ! Neurometabolic disease is_a: Orphanet:79191 ! Disorder of purine metabolism is_a: Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease is_a: Orphanet:98415 ! Vitamin B12- and folate-independent constitutional megaloblastic anemia property_value: alternative:term "HPRT deficiency" xsd:string property_value: alternative:term "HPRT1 deficiency" xsd:string property_value: alternative:term "Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency." xsd:string [Term] id: Orphanet:206436 name: Infantile Krabbe disease xref: ICD10:E75.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:487 ! Krabbe disease property_value: alternative:term "Krabbe disease, classic form" xsd:string property_value: alternative:term "Krabbe disease, early-onset" xsd:string [Term] id: Orphanet:206443 name: Late-infantile/juvenile Krabbe disease xref: ICD10:E75.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:487 ! Krabbe disease property_value: alternative:term "Krabbe disease, late-onset" xsd:string [Term] id: Orphanet:206448 name: Adult Krabbe disease xref: ICD10:E75.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:487 ! Krabbe disease relationship: part_of Orphanet:98544 ! Cerebral lipidosis with dementia [Term] id: Orphanet:206470 name: Serous or mucinous cystadenoma of childhood xref: ICD10:D27 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:97293 ! Rare benign ovarian tumor [Term] id: Orphanet:206473 name: Borderline ovarian epithelial tumor xref: ICD10:C56 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213500 ! Rare ovarian cancer property_value: alternative:term "Ovarian tumor of low malignant potential" xsd:string [Term] id: Orphanet:206484 name: Ovarian gonadoblastoma xref: ICD10:C56 xref: OMIM:424500 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213500 ! Rare ovarian cancer [Term] id: Orphanet:206489 name: Vaginal germ cell malignant tumor xref: ICD10:C52 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:180312 ! Rare vulvovaginal tumor property_value: alternative:term "Vaginal germ cell cancer" xsd:string [Term] id: Orphanet:206492 name: Vulvovaginal rhabdomyosarcoma xref: ICD10:C52 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:180312 ! Rare vulvovaginal tumor [Term] id: Orphanet:2065 name: Galloway-Mowat syndrome xref: ICD10:Q04.3 xref: MESH:C537548 xref: OMIM:251300 xref: UMLS:C0795949 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:102373 ! Primary glomerular disease relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature property_value: alternative:term "Galloway syndrome" xsd:string property_value: alternative:term "Microcephaly - hiatus hernia - nephrotic syndrome" xsd:string property_value: alternative:term "Nephrosis - neuronal dysmigration syndrome" xsd:string [Term] id: Orphanet:206538 name: Malignant nondysgerminomatous germ cell tumor xref: ICD10:C56 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:35807 ! Ovarian germ cell malignant tumor property_value: alternative:term "Nondysgerminomatous germ cell cancer" xsd:string [Term] id: Orphanet:206546 name: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers xref: ICD10:G71.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:207085 ! Qualitative or quantitative defects of dystrophin relationship: part_of Orphanet:262 ! Duchenne and Becker muscular dystrophy [Term] id: Orphanet:206549 name: Autosomal recessive limb-girdle muscular dystrophy type 2L xref: ICD10:G71.0 xref: OMIM:611307 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102015 ! Autosomal recessive limb-girdle muscular dystrophy relationship: part_of Orphanet:207122 ! Qualitative or quantitative defects of fukutin property_value: alternative:term "LGMD2L" xsd:string [Term] id: Orphanet:206554 name: Autosomal recessive limb-girdle muscular dystrophy type 2M xref: ICD10:G71.0 xref: OMIM:611588 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102015 ! Autosomal recessive limb-girdle muscular dystrophy relationship: part_of Orphanet:207122 ! Qualitative or quantitative defects of fukutin relationship: part_of Orphanet:217610 ! Neuromuscular disease with dilated cardiomyopathy relationship: part_of Orphanet:309469 ! Disorder of O-mannosylglycan synthesis relationship: part_of Orphanet:371047 ! Congenital disorder of glycosylation with neurological involvement relationship: part_of Orphanet:371176 ! Congenital disorder of glycosylation with dilated cardiomyopathy property_value: alternative:term "LGMD2M" xsd:string [Term] id: Orphanet:206559 name: Autosomal recessive limb-girdle muscular dystrophy type 2N xref: ICD10:G71.0 xref: OMIM:613158 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102015 ! Autosomal recessive limb-girdle muscular dystrophy relationship: part_of Orphanet:209033 ! Qualitative or quantitative defects of protein O-mannosyltransferase 2 relationship: part_of Orphanet:309469 ! Disorder of O-mannosylglycan synthesis relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature property_value: alternative:term "LGMD2N" xsd:string [Term] id: Orphanet:206564 name: Autosomal recessive limb-girdle muscular dystrophy type 2O xref: ICD10:G71.0 xref: OMIM:613157 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:102015 ! Autosomal recessive limb-girdle muscular dystrophy relationship: part_of Orphanet:209024 ! Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase relationship: part_of Orphanet:309469 ! Disorder of O-mannosylglycan synthesis relationship: part_of Orphanet:371047 ! Congenital disorder of glycosylation with neurological involvement property_value: alternative:term "LGMD2O" xsd:string [Term] id: Orphanet:206569 name: Autoimmune necrotizing myopathy is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98482 ! Idiopathic inflammatory myopathy property_value: alternative:term "Anti-SRP myopathy" xsd:string property_value: alternative:term "Immune-mediated necrotizing myopathy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation." xsd:string [Term] id: Orphanet:206572 name: Overlap myositis is_a: Orphanet:98482 ! Idiopathic inflammatory myopathy property_value: alternative:term "Adult-onset overlap myositis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature." xsd:string [Term] id: Orphanet:206575 name: Rippling muscle disease with myasthenia gravis xref: ICD10:G70.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98494 ! Acquired neuromuscular junction disease property_value: alternative:term "Acquired rippling muscle disease" xsd:string property_value: alternative:term "Immune-mediated rippling muscle disease" xsd:string [Term] id: Orphanet:206580 name: Autosomal recessive lower motor neuron disease with childhood onset xref: ICD10:G12.2 xref: OMIM:611067 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206710 ! Generalized bulbospinal muscular atrophy property_value: alternative:term "Autosomal recessive distal spinal muscular atrophy type 4" xsd:string property_value: alternative:term "Distal spinal muscular atrophy type 4" xsd:string property_value: alternative:term "dSMA4" xsd:string [Term] id: Orphanet:206583 name: Adult polyglucosan body disease xref: ICD10:E74.0 xref: OMIM:263570 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:367 ! Glycogen storage disease due to glycogen branching enzyme deficiency property_value: alternative:term "APBD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia." xsd:string [Term] id: Orphanet:206586 name: Neurolymphomatosis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:207046 ! Malignant lymphoma with peripheral neuropathy [Term] id: Orphanet:206594 name: Subacute inflammatory demyelinating polyneuropathy xref: ICD10:G61.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:207038 ! Acute and subacute inflammatory demyelinating polyneuropathy property_value: alternative:term "Subacute inflammatory demyelinating polyradiculoneuropathy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Subacute inflammatory demyelinating polyneuropathy (SIDP) is a subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP; see these terms)." xsd:string [Term] id: Orphanet:206599 name: Isolated asymptomatic elevation of creatine phosphokinase is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:207078 ! Qualitative or quantitative defects of caveolin-3 relationship: part_of Orphanet:207085 ! Qualitative or quantitative defects of dystrophin [Term] id: Orphanet:2066 name: Gamma-aminobutyric acid transaminase deficiency xref: ICD10:E72.8 xref: MESH:C535407 xref: OMIM:613163 xref: SNOMED CT:237941007 xref: UMLS:C0342708 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:225707 ! Metabolic neurotransmission anomaly with epilepsy relationship: part_of Orphanet:308407 ! Disorder of beta and omega amino acid metabolism relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79175 ! Disorder of gamma-aminobutyric acid metabolism property_value: alternative:term "GABA transaminase deficiency" xsd:string [Term] id: Orphanet:206606 name: Other muscle weakness and/or chronic muscle pain is_a: Orphanet:207085 ! Qualitative or quantitative defects of dystrophin [Term] id: Orphanet:206613 name: Infectious disease with peripheral neuropathy is_a: Orphanet:182086 ! Acquired peripheral neuropathy [Term] id: Orphanet:206616 name: Acquired metabolic neuropathy is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:182086 ! Acquired peripheral neuropathy [Term] id: Orphanet:206619 name: Toxic or/and iatrogenic neuropathy is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:182086 ! Acquired peripheral neuropathy [Term] id: Orphanet:206634 name: Genetic skeletal muscle disease is_a: Orphanet:183497 ! Genetic neuromuscular disease is_a: Orphanet:98472 ! Skeletal muscle disease [Term] id: Orphanet:206638 name: Acquired skeletal muscle disease is_a: Orphanet:98472 ! Skeletal muscle disease [Term] id: Orphanet:206644 name: Progressive muscular dystrophy xref: ICD10:G71.0 is_a: Orphanet:98473 ! Muscular dystrophy [Term] id: Orphanet:206647 name: Myotonic dystrophy xref: ICD10:G71.1 xref: MEDDRA:10068871 xref: MESH:D009223 xref: UMLS:C0027126 is_a: Orphanet:206644 ! Progressive muscular dystrophy is_a: Orphanet:206970 ! Myotonic syndrome [Term] id: Orphanet:206650 name: Autosomal dominant distal myopathy xref: ICD10:G71.0 is_a: Orphanet:599 ! Distal myopathy [Term] id: Orphanet:206653 name: Autosomal recessive distal myopathy xref: ICD10:G71.0 is_a: Orphanet:599 ! Distal myopathy [Term] id: Orphanet:206656 name: Non-dystrophic myopathy is_a: Orphanet:206634 ! Genetic skeletal muscle disease [Term] id: Orphanet:206659 name: Non-dystrophic myopathy with collagen 6 anomaly is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:206656 ! Non-dystrophic myopathy relationship: part_of Orphanet:207090 ! Qualitative or quantitative defects of collagen 6 [Term] id: Orphanet:206662 name: Inclusion myopathy xref: ICD10:G71.8 is_a: Orphanet:206656 ! Non-dystrophic myopathy [Term] id: Orphanet:2067 name: GAPO syndrome xref: ICD10:Q87.8 xref: OMIM:230740 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:98677 ! Autosomal recessive syndromic optic atrophy property_value: alternative:term "Growth delay - alopecia - pseudoanodontia - optic atrophy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations" xsd:string [Term] id: Orphanet:206701 name: Bulbospinal muscular atrophy xref: ICD10:G12.2 is_a: Orphanet:98505 ! Genetic motor neuron disease [Term] id: Orphanet:206704 name: Bulbospinal muscular atrophy of children xref: ICD10:G12.2 is_a: Orphanet:206701 ! Bulbospinal muscular atrophy [Term] id: Orphanet:206707 name: Bulbospinal muscular atrophy of adult xref: ICD10:G12.2 is_a: Orphanet:206701 ! Bulbospinal muscular atrophy [Term] id: Orphanet:206710 name: Generalized bulbospinal muscular atrophy xref: ICD10:G12.2 is_a: Orphanet:206701 ! Bulbospinal muscular atrophy [Term] id: Orphanet:206713 name: Distal spinal muscular atrophy xref: ICD10:G12.1 xref: SNOMED CT:230247001 xref: UMLS:C0393541 is_a: Orphanet:98505 ! Genetic motor neuron disease [Term] id: Orphanet:206724 name: ZFP57 zinc finger protein xref: ENSEMBL:ENSG00000204644 xref: GENATLAS:ZFP57 xref: HGNC:18791 xref: OMIM:612192 xref: UNIPROTKB/SWISSPROT:Q9NU63 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99886 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Transient neonatal diabetes mellitus property_value: alternative:term "bA145L22" xsd:string property_value: alternative:term "bA145L22.2" xsd:string property_value: alternative:term "C6orf40" xsd:string property_value: alternative:term "chromosome 6 open reading frame 40" xsd:string property_value: alternative:term "Zinc finger protein 57 homolog (mouse)" xsd:string property_value: alternative:term "ZNF698" xsd:string property_value: symbol "ZFP57" xsd:string [Term] id: Orphanet:2069 name: Gastrocutaneous syndrome xref: MESH:C535651 xref: OMIM:137270 xref: UMLS:C1850899 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin [Term] id: Orphanet:206953 name: Muscular lipidosis is_a: Orphanet:98486 ! Metabolic myopathy property_value: alternative:term "Lipid storage myopathy" xsd:string [Term] id: Orphanet:206959 name: Muscular glycogenosis xref: ICD10:E74.0 is_a: Orphanet:98486 ! Metabolic myopathy property_value: alternative:term "Glycogen storage myopathy" xsd:string [Term] id: Orphanet:206966 name: Mitochondrial myopathy xref: ICD10:G71.3 xref: MEDDRA:10027710 xref: MESH:D017240 xref: SNOMED CT:16851005 xref: UMLS:C0162670 is_a: Orphanet:206953 ! Muscular lipidosis [Term] id: Orphanet:206970 name: Myotonic syndrome xref: ICD10:G71.1 xref: MEDDRA:10028658 xref: MESH:D020967 xref: SNOMED CT:193237003 xref: UMLS:C0553604 is_a: Orphanet:206634 ! Genetic skeletal muscle disease [Term] id: Orphanet:206973 name: Congenital myotonia xref: ICD10:G71.1 is_a: Orphanet:206970 ! Myotonic syndrome [Term] id: Orphanet:206976 name: Periodic paralysis xref: ICD10:G72.3 xref: MEDDRA:10016208 xref: MESH:D010245 xref: SNOMED CT:198030008 xref: SNOMED CT:267607008 xref: UMLS:C0030443 xref: UMLS:C1279412 is_a: Orphanet:206634 ! Genetic skeletal muscle disease [Term] id: Orphanet:206979 name: Granulomatous myositis xref: ICD10:M60.2 xref: MEDDRA:10058957 xref: UMLS:C1142447 is_a: Orphanet:98482 ! Idiopathic inflammatory myopathy [Term] id: Orphanet:206982 name: Muscular tumor is_a: Orphanet:206638 ! Acquired skeletal muscle disease [Term] id: Orphanet:206985 name: Drug and/or toxic myopathy is_a: Orphanet:206638 ! Acquired skeletal muscle disease [Term] id: Orphanet:206988 name: Infectious, fungal or parasitic myopathy xref: ICD10:M60.0 is_a: Orphanet:206638 ! Acquired skeletal muscle disease [Term] id: Orphanet:206991 name: Viral myositis xref: ICD10:M60.0 xref: MEDDRA:10051512 xref: SNOMED CT:240105009 xref: UMLS:C0150005 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:206988 ! Infectious, fungal or parasitic myopathy [Term] id: Orphanet:206994 name: Bacterial myositis xref: ICD10:M60.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:206988 ! Infectious, fungal or parasitic myopathy [Term] id: Orphanet:206997 name: Parasitic myositis xref: ICD10:M60.0 xref: SNOMED CT:60970005 xref: UMLS:C0263997 is_a: Orphanet:206988 ! Infectious, fungal or parasitic myopathy [Term] id: Orphanet:207 name: Crouzon disease xref: ICD10:Q75.1 xref: OMIM:123500 xref: SNOMED CT:28861008 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:98684 ! Craniostenosis associated with a strabismus property_value: alternative:term "Crouzon craniofacial dysostosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Crouzon disease is characterized by craniosynostosis and facial hypoplasia." xsd:string [Term] id: Orphanet:2070 name: Eosinophilic gastroenteritis xref: ICD10:K52.8 xref: MEDDRA:10017902 xref: MESH:C535952 xref: SNOMED CT:359804008 xref: UMLS:C1262481 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:101936 ! Rare gastro-esophageal disease property_value: alternative:term "EGE" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Eosinophilic gastroenteritis is characterized by the presence of abnormal and nonspecific gastro-intestinal symptoms, associated to an eosinophilic infiltration of the gastrointestinal tract (one or more areas), without systemic involvement." xsd:string [Term] id: Orphanet:207000 name: Fungal myositis xref: ICD10:M60.0 xref: SNOMED CT:240111007 xref: UMLS:C0410251 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:206988 ! Infectious, fungal or parasitic myopathy [Term] id: Orphanet:207003 name: Endocrine myopathy xref: ICD10:G73.5* xref: MEDDRA:10028643 xref: SNOMED CT:57958006 xref: UMLS:C0494507 is_a: Orphanet:206638 ! Acquired skeletal muscle disease [Term] id: Orphanet:207006 name: Acquired amyloid myopathy xref: ICD10:G72.8 is_a: Orphanet:206638 ! Acquired skeletal muscle disease [Term] id: Orphanet:207009 name: Acquired rod-body myopathy xref: ICD10:G72.8 is_a: Orphanet:206638 ! Acquired skeletal muscle disease [Term] id: Orphanet:207012 name: Spinal muscular atrophy associated with central nervous system anomaly is_a: Orphanet:206701 ! Bulbospinal muscular atrophy [Term] id: Orphanet:207015 name: Rare hereditary disease with peripheral neuropathy is_a: Orphanet:98497 ! Genetic peripheral neuropathy [Term] id: Orphanet:207018 name: Rare hereditary metabolic disease with peripheral neuropathy is_a: Orphanet:207015 ! Rare hereditary disease with peripheral neuropathy [Term] id: Orphanet:207021 name: Rare hereditary systemic disease with peripheral neuropathy is_a: Orphanet:207015 ! Rare hereditary disease with peripheral neuropathy [Term] id: Orphanet:207025 name: Rare hereditary neurologic disease with peripheral neuropathy is_a: Orphanet:207015 ! Rare hereditary disease with peripheral neuropathy [Term] id: Orphanet:207028 name: Cerebellar ataxia with peripheral neuropathy xref: ICD10:G60.2 is_a: Orphanet:207025 ! Rare hereditary neurologic disease with peripheral neuropathy [Term] id: Orphanet:207031 name: Rare disease with corpus callosum agenesis associated with peripheral neuropathy is_a: Orphanet:207025 ! Rare hereditary neurologic disease with peripheral neuropathy [Term] id: Orphanet:207038 name: Acute and subacute inflammatory demyelinating polyneuropathy is_a: Orphanet:182086 ! Acquired peripheral neuropathy property_value: alternative:term "Acute and subacute inflammatory demyelinating polyradiculoneuropathy" xsd:string [Term] id: Orphanet:207046 name: Malignant lymphoma with peripheral neuropathy is_a: Orphanet:209016 ! Hematological disease associated with an acquired peripheral neuropathy [Term] id: Orphanet:207049 name: Qualitative or quantitative protein defects in neuromuscular diseases is_a: Orphanet:183497 ! Genetic neuromuscular disease [Term] id: Orphanet:207052 name: Qualitative or quantitative defects of sarcoglycan is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases property_value: alternative:term "Sarcoglycanopathy" xsd:string [Term] id: Orphanet:207060 name: Qualitative or quantitative defects of alpha-sarcoglycan is_a: Orphanet:207052 ! Qualitative or quantitative defects of sarcoglycan [Term] id: Orphanet:207063 name: Qualitative or quantitative defects of beta-sarcoglycan is_a: Orphanet:207052 ! Qualitative or quantitative defects of sarcoglycan [Term] id: Orphanet:207067 name: Qualitative or quantitative defects of gamma-sarcoglycan is_a: Orphanet:207052 ! Qualitative or quantitative defects of sarcoglycan [Term] id: Orphanet:207070 name: Qualitative or quantitative defects of delta-sarcoglycan is_a: Orphanet:207052 ! Qualitative or quantitative defects of sarcoglycan [Term] id: Orphanet:207073 name: Qualitative or quantitative defects of dysferlin is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases property_value: alternative:term "Dysferlinopathy" xsd:string [Term] id: Orphanet:207078 name: Qualitative or quantitative defects of caveolin-3 is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases property_value: alternative:term "Caveolinopathy" xsd:string [Term] id: Orphanet:207085 name: Qualitative or quantitative defects of dystrophin is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases property_value: alternative:term "Dystrophinopathy" xsd:string [Term] id: Orphanet:207090 name: Qualitative or quantitative defects of collagen 6 is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases [Term] id: Orphanet:207094 name: Qualitative or quantitative defects of merosin is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases [Term] id: Orphanet:207098 name: Qualitative or quantitative defects of integrin alpha-7 is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases property_value: alternative:term "Integrinopathy" xsd:string [Term] id: Orphanet:207101 name: Qualitative or quantitative defects of perlecan is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases [Term] id: Orphanet:207104 name: Qualitative or quantitative defects of calpain is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases [Term] id: Orphanet:207107 name: Qualitative or quantitative defects of TRIM32 is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases [Term] id: Orphanet:207110 name: Qualitative or quantitative defects of myotubularin is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases [Term] id: Orphanet:207113 name: Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan is_a: Orphanet:371024 ! Qualitative or quantitative defects of alpha-dystroglycan property_value: alternative:term "Secondary alpha-dystroglycanopathy" xsd:string property_value: alternative:term "Secondary dystroglycanopathy" xsd:string [Term] id: Orphanet:207119 name: Qualitative or quantitative defects of FKRP is_a: Orphanet:207113 ! Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan [Term] id: Orphanet:207122 name: Qualitative or quantitative defects of fukutin is_a: Orphanet:207113 ! Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan [Term] id: Orphanet:2072 name: Gaucher disease - ophthalmoplegia - cardiovascular calcification xref: ICD10:E75.2 xref: OMIM:231005 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:355 ! Gaucher disease property_value: alternative:term "Cardiovascular Gaucher disease" xsd:string property_value: alternative:term "Gaucher disease type 3C" xsd:string property_value: alternative:term "Gaucher-like disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement." xsd:string [Term] id: Orphanet:2073 name: Narcolepsy-cataplexy xref: ICD10:G47.4 xref: MEDDRA:10028713 xref: MESH:D009290 xref: OMIM:161400 xref: OMIM:605841 xref: OMIM:609039 xref: OMIM:612417 xref: OMIM:612851 xref: OMIM:614223 xref: OMIM:614250 xref: SNOMED CT:193042000 xref: SNOMED CT:60380001 xref: UMLS:C0027404 xref: UMLS:C0751362 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:68354 ! Sleep disorder property_value: alternative:term "Gélineau disease" xsd:string [Term] id: Orphanet:2075 name: Genito-palato-cardiac syndrome xref: ICD10:Q87.8 xref: MESH:C537683 xref: OMIM:231060 xref: UMLS:C1856466 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Gardner-Silengo-Wachtel syndrome" xsd:string [Term] id: Orphanet:2076 name: X-linked intellectual deficit - epilepsy xref: OMIM:300088 xref: OMIM:300423 xref: OMIM:300607 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:166472 ! Monogenic disease with epilepsy relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:2077 name: German syndrome xref: OMIM:231080 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:89832 ! Syndromic lymphedema [Term] id: Orphanet:2078 name: Geroderma osteodysplastica xref: ICD10:Q82.8 xref: MESH:C537799 xref: OMIM:231070 xref: SNOMED CT:254116003 xref: UMLS:C0432255 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:209 ! Cutis laxa relationship: part_of Orphanet:93446 ! Primary bone dysplasia with decreased bone density property_value: alternative:term "Walt Disney dwarfism" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit." xsd:string [Term] id: Orphanet:2081 name: Cerebral gigantism - jaw cysts xref: ICD10:Q04.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature property_value: alternative:term "Cramer-Niederdellmann syndrome" xsd:string [Term] id: Orphanet:2083 name: Prominent glabella - microcephaly - hypogenitalism xref: ICD10:Q87.0 xref: OMIM:247990 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Mac Dermot-Winter syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Prominent glabella – microcephaly – hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions." xsd:string [Term] id: Orphanet:208329 name: solute carrier family 27 (fatty acid transporter), member 4 xref: ENSEMBL:ENSG00000167114 xref: GENATLAS:SLC27A4 xref: HGNC:10998 xref: OMIM:604194 xref: REACTOME:Q6P1M0 xref: UNIPROTKB/SWISSPROT:Q6P1M0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88621 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ichthyosis prematurity syndrome property_value: alternative:term "ACSVL4" xsd:string property_value: alternative:term "FATP4" xsd:string property_value: symbol "SLC27A4" xsd:string [Term] id: Orphanet:208333 name: phosphodiesterase 6C, cGMP-specific, cone, alpha prime xref: ENSEMBL:ENSG00000095464 xref: GENATLAS:PDE6C xref: HGNC:8787 xref: OMIM:600827 xref: UNIPROTKB/SWISSPROT:P51160 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1871 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive cone dystrophy relationship: Orphanet:317343 Orphanet:49382 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Achromatopsia property_value: alternative:term "ACHM5" xsd:string property_value: alternative:term "COD4" xsd:string property_value: alternative:term "PDEA2" xsd:string property_value: symbol "PDE6C" xsd:string [Term] id: Orphanet:208342 name: matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) xref: ENSEMBL:ENSG00000100985 xref: GENATLAS:MMP9 xref: HGNC:7176 xref: IUPHAR:1633 xref: OMIM:120361 xref: REACTOME:P14780 xref: UNIPROTKB/SWISSPROT:P14780 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1040 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Metaphyseal anadysplasia property_value: alternative:term "CLG4B" xsd:string property_value: alternative:term "matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)" xsd:string property_value: alternative:term "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)" xsd:string property_value: symbol "MMP9" xsd:string [Term] id: Orphanet:208345 name: vaccinia related kinase 1 xref: ENSEMBL:ENSG00000100749 xref: GENATLAS:VRK1 xref: HGNC:12718 xref: IUPHAR:2275 xref: OMIM:602168 xref: REACTOME:Q99986 xref: UNIPROTKB/SWISSPROT:Q99986 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2254 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pontocerebellar hypoplasia type 1 property_value: symbol "VRK1" xsd:string [Term] id: Orphanet:208347 name: inositol polyphosphate-5-phosphatase, 72 kDa xref: ENSEMBL:ENSG00000148384 xref: GENATLAS:INPP5E xref: HGNC:21474 xref: OMIM:613037 xref: REACTOME:Q9NRR6 xref: UNIPROTKB/SWISSPROT:Q9NRR6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220493 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with ocular defect relationship: Orphanet:317343 Orphanet:475 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome relationship: Orphanet:317343 Orphanet:75858 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MORM syndrome property_value: alternative:term "CORS1" xsd:string property_value: alternative:term "JBTS1" xsd:string property_value: alternative:term "Joubert syndrome 1" xsd:string property_value: alternative:term "PPI5PIV" xsd:string property_value: symbol "INPP5E" xsd:string [Term] id: Orphanet:2084 name: Glaucoma - ectopia - microspherophakia - stiff joints - short stature xref: ICD10:Q87.1 xref: OMIM:608328 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:98652 ! Lens size anomaly property_value: alternative:term "Gemss syndrome" xsd:string [Term] id: Orphanet:208441 name: Bilateral parasagittal parieto-occipital polymicrogyria xref: ICD10:Q04.3 xref: OMIM:612691 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:268940 ! Bilateral polymicrogyria [Term] id: Orphanet:208444 name: Bilateral frontal polymicrogyria xref: ICD10:Q04.3 xref: OMIM:610031 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:268940 ! Bilateral polymicrogyria [Term] id: Orphanet:208447 name: Bilateral generalized polymicrogyria xref: ICD10:Q04.3 xref: OMIM:614833 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:268940 ! Bilateral polymicrogyria [Term] id: Orphanet:2085 name: Glaucoma - sleep apnea xref: OMIM:137763 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature [Term] id: Orphanet:208508 name: Autosomal dominant cerebellar ataxia type 2 xref: ICD10:G11 is_a: Orphanet:99 ! Autosomal dominant cerebellar ataxia property_value: alternative:term "ADCA2" xsd:string property_value: alternative:term "ADCAII" xsd:string property_value: alternative:term "Autosomal dominant cerebellar ataxia type II" xsd:string [Term] id: Orphanet:208513 name: Spinocerebellar ataxia type 29 xref: ICD10:G11 xref: OMIM:117360 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:94148 ! Autosomal dominant cerebellar ataxia type 3 property_value: alternative:term "Congenital nonprogressive spinocerebellar ataxia" xsd:string property_value: alternative:term "SCA29" xsd:string [Term] id: Orphanet:208524 name: Herpetiform pemphigus xref: ICD10:L10.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:46485 ! Superficial pemphigus [Term] id: Orphanet:208593 name: Genetic hypoparathyroidism is_a: Orphanet:183634 ! Rare genetic parathyroid disease and phosphocalcic metabolism disorder [Term] id: Orphanet:208596 name: Genetic hyperparathyroidism is_a: Orphanet:183634 ! Rare genetic parathyroid disease and phosphocalcic metabolism disorder [Term] id: Orphanet:2086 name: Optic pathway glioma xref: ICD10:C72.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:252057 ! Tumor of cranial and spinal nerves relationship: part_of Orphanet:95503 ! Pituitary hormone deficiency from tumoral origin property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1, see this term)." xsd:string [Term] id: Orphanet:208600 name: Papillary fibroelastoma of the heart xref: ICD10:D15.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:168194 ! Rare cardiac tumor property_value: alternative:term "Cardiac papillary fibroelastoma" xsd:string [Term] id: Orphanet:208650 name: Cryopyrin-associated periodic syndrome xref: MEDDRA:10068850 xref: MESH:D056587 xref: SNOMED CT:430079001 xref: UMLS:C2316212 is_a: Orphanet:290839 ! Autoinflammatory syndrome with immune deficiency is_a: Orphanet:290842 ! Autoinflammatory syndrome with skin involvement is_a: Orphanet:324924 ! Hereditary periodic fever syndrome property_value: alternative:term "CAPS" xsd:string [Term] id: Orphanet:2087 name: Glomerulonephritis - sparse hair - telangiectasis xref: MESH:C536825 xref: OMIM:137940 xref: UMLS:C1841989 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102373 ! Primary glomerular disease [Term] id: Orphanet:2088 name: Glycogen storage disease due to GLUT2 deficiency xref: ICD10:E74.0 xref: OMIM:227810 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:79178 ! Glucose transport disorder relationship: part_of Orphanet:79201 ! Glycogen storage disease relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease property_value: alternative:term "Bickel-Fanconi glycogenosis" xsd:string property_value: alternative:term "Fanconi-Bickel disease" xsd:string property_value: alternative:term "Glycogenosis due to GLUT2 deficiency" xsd:string property_value: alternative:term "GSD due to GLUT2 deficiency" xsd:string [Term] id: Orphanet:2089 name: Glycogen storage disease due to hepatic glycogen synthase deficiency xref: ICD10:E74.0 xref: OMIM:240600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:308520 ! Glycogen storage disease due to glycogen synthase deficiency property_value: alternative:term "Glycogen storage disease due to liver glycogen synthase deficiency" xsd:string property_value: alternative:term "Glycogen storage disease type 0a" xsd:string property_value: alternative:term "Glycogenosis type 0a" xsd:string property_value: alternative:term "GSD due to hepatic glycogen synthase deficiency" xsd:string property_value: alternative:term "GSD type 0a" xsd:string [Term] id: Orphanet:208974 name: Chronic acquired demyelinating polyneuropathy is_a: Orphanet:182086 ! Acquired peripheral neuropathy property_value: alternative:term "CADP" xsd:string [Term] id: Orphanet:208978 name: Chronic polyradiculoneuropathy xref: ICD10:G61.8 is_a: Orphanet:208974 ! Chronic acquired demyelinating polyneuropathy [Term] id: Orphanet:208981 name: Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies xref: ICD10:G61.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:208978 ! Chronic polyradiculoneuropathy relationship: part_of Orphanet:209010 ! Peripheral neuropathy associated with monoclonal gammopathy [Term] id: Orphanet:208984 name: Acquired sensory ganglionopathy is_a: Orphanet:182086 ! Acquired peripheral neuropathy property_value: alternative:term "Acquired sensory neuronopathy" xsd:string [Term] id: Orphanet:208989 name: Non-paraneoplastic sensory ganglionopathy is_a: Orphanet:208984 ! Acquired sensory ganglionopathy property_value: alternative:term "Non-paraneoplastic sensory neuronopathy" xsd:string [Term] id: Orphanet:208994 name: Other ganglionopathy related to autoimmune diseases is_a: Orphanet:208989 ! Non-paraneoplastic sensory ganglionopathy property_value: alternative:term "Other neuronopathy related to autoimmune diseases" xsd:string [Term] id: Orphanet:208999 name: Paraneoplastic sensory ganglionopathy is_a: Orphanet:208984 ! Acquired sensory ganglionopathy is_a: Orphanet:209019 ! Solid tumor associated with an acquired peripheral neuropathy property_value: alternative:term "Paraneoplastic sensory neuronopathy" xsd:string [Term] id: Orphanet:209 name: Cutis laxa xref: ICD10:Q82.8 xref: MEDDRA:10011692 xref: MESH:D003483 xref: SNOMED CT:58588007 xref: UMLS:C0010495 is_a: Orphanet:108979 ! Syndromic diaphragmatic or abdominal wall malformation is_a: Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement is_a: Orphanet:139030 ! Malformation syndrome with connective tissue involvement is_a: Orphanet:180779 ! Syndromic diaphragmatic or thoracic malformation is_a: Orphanet:228215 ! Genetic dermis elastic tissue disorder is_a: Orphanet:98568 ! Congenital entropion relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity." xsd:string [Term] id: Orphanet:2090 name: GMS syndrome xref: OMIM:138770 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:98633 ! Goniodysgenesis property_value: alternative:term "Goniodysgenesis - intellectual deficit - short stature" xsd:string [Term] id: Orphanet:209004 name: Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy xref: ICD10:G61.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:209010 ! Peripheral neuropathy associated with monoclonal gammopathy [Term] id: Orphanet:209007 name: Systemic inflammatory disease associated with an acquired peripheral neuropathy is_a: Orphanet:182086 ! Acquired peripheral neuropathy [Term] id: Orphanet:209010 name: Peripheral neuropathy associated with monoclonal gammopathy is_a: Orphanet:182086 ! Acquired peripheral neuropathy [Term] id: Orphanet:209013 name: Acquired amyloid peripheral neuropathy is_a: Orphanet:182086 ! Acquired peripheral neuropathy [Term] id: Orphanet:209016 name: Hematological disease associated with an acquired peripheral neuropathy is_a: Orphanet:182086 ! Acquired peripheral neuropathy [Term] id: Orphanet:209019 name: Solid tumor associated with an acquired peripheral neuropathy is_a: Orphanet:182086 ! Acquired peripheral neuropathy [Term] id: Orphanet:209024 name: Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase is_a: Orphanet:207113 ! Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan property_value: alternative:term "Qualitative or quantitative defects of protein POMGNT1" xsd:string [Term] id: Orphanet:209027 name: Qualitative or quantitative defects of protein glycosyltransferase-like is_a: Orphanet:207113 ! Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan [Term] id: Orphanet:209030 name: Qualitative or quantitative defects of protein O-mannosyltransferase 1 is_a: Orphanet:207113 ! Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan [Term] id: Orphanet:209033 name: Qualitative or quantitative defects of protein O-mannosyltransferase 2 is_a: Orphanet:207113 ! Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan [Term] id: Orphanet:209038 name: Qualitative or quantitative defects of myofibrillar proteins is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases [Term] id: Orphanet:209041 name: Qualitative or quantitative defects of desmin is_a: Orphanet:209038 ! Qualitative or quantitative defects of myofibrillar proteins [Term] id: Orphanet:209044 name: Qualitative or quantitative defects of alphaB-cristallin is_a: Orphanet:209038 ! Qualitative or quantitative defects of myofibrillar proteins [Term] id: Orphanet:209047 name: Qualitative or quantitative defects of filamin C is_a: Orphanet:209038 ! Qualitative or quantitative defects of myofibrillar proteins [Term] id: Orphanet:209050 name: Qualitative or quantitative defects of protein ZASP is_a: Orphanet:209038 ! Qualitative or quantitative defects of myofibrillar proteins [Term] id: Orphanet:209053 name: Qualitative or quantitative defects of titin is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases [Term] id: Orphanet:209056 name: Qualitative or quantitative defects of telethonin is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases [Term] id: Orphanet:209059 name: Qualitative or quantitative defects of alpha-actin is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases [Term] id: Orphanet:2091 name: Multinodular goiter - cystic kidney - polydactyly xref: ICD10:Q87.8 xref: OMIM:138790 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Daneman-Davy-Mancer syndrome" xsd:string property_value: alternative:term "Thyroid-renal-digital anomalies" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies." xsd:string [Term] id: Orphanet:209182 name: Qualitative or quantitative defects of nebulin is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases [Term] id: Orphanet:209185 name: Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases [Term] id: Orphanet:209188 name: Qualitative or quantitative defects of emerin is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases [Term] id: Orphanet:209193 name: Qualitative or quantitative defects of selenoprotein N1 is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases [Term] id: Orphanet:209196 name: Qualitative or quantitative defects of plectin is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases [Term] id: Orphanet:209199 name: Qualitative or quantitative defects of protein SERCA1 is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases [Term] id: Orphanet:2092 name: Focal dermal hypoplasia xref: ICD10:Q82.8 xref: MESH:D005489 xref: OMIM:305600 xref: SNOMED CT:205573006 xref: SNOMED CT:2298005 xref: UMLS:C0016395 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:183481 ! Genetic mixed dermis disorder relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:79380 ! Mixed dermis disorder relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit relationship: part_of Orphanet:98655 ! Lens shape anomaly relationship: part_of Orphanet:98702 ! Connective tissue disease with eye involvement property_value: alternative:term "Goltz syndrome" xsd:string property_value: alternative:term "Goltz-Gorlin syndrome" xsd:string [Term] id: Orphanet:209203 name: Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases [Term] id: Orphanet:209224 name: Qualitative or quantitative defects of myotilin is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases [Term] id: Orphanet:209271 name: spectrin repeat containing, nuclear envelope 2 xref: ENSEMBL:ENSG00000054654 xref: GENATLAS:SYNE2 xref: HGNC:17084 xref: OMIM:608442 xref: REACTOME:Q8WXH0 xref: UNIPROTKB/SWISSPROT:Q8WXH0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98853 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Emery-Dreifuss muscular dystrophy property_value: alternative:term "DKFZP434H2235" xsd:string property_value: alternative:term "KIAA1011" xsd:string property_value: alternative:term "Nesp2" xsd:string property_value: alternative:term "Nesprin-2" xsd:string property_value: alternative:term "NUA" xsd:string property_value: alternative:term "NUANCE" xsd:string property_value: alternative:term "nuclear envelope spectrin repeat-2" xsd:string property_value: alternative:term "nucleus and actin connecting element" xsd:string property_value: alternative:term "SYNE-2" xsd:string property_value: symbol "SYNE2" xsd:string [Term] id: Orphanet:209279 name: succinate dehydrogenase complex assembly factor 2 xref: ENSEMBL:ENSG00000167985 xref: GENATLAS:SDHAF2 xref: HGNC:26034 xref: OMIM:613019 xref: UNIPROTKB/SWISSPROT:Q9NX18 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:29072 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary pheochromocytoma-paraganglioma property_value: alternative:term "C11orf79" xsd:string property_value: alternative:term "chromosome 11 open reading frame 79" xsd:string property_value: alternative:term "FLJ20487" xsd:string property_value: alternative:term "paraganglioma or familial glomus tumors 2" xsd:string property_value: alternative:term "PGL2" xsd:string property_value: alternative:term "SDH5" xsd:string property_value: symbol "SDHAF2" xsd:string [Term] id: Orphanet:209285 name: dicer 1, ribonuclease type III xref: ENSEMBL:ENSG00000100697 xref: GENATLAS:DICER1 xref: HGNC:17098 xref: OMIM:606241 xref: REACTOME:Q9UPY3 xref: UNIPROTKB/SWISSPROT:Q9UPY3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:276399 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial multinodular goiter relationship: Orphanet:317345 Orphanet:284343 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Pleuropulmonary blastoma family tumor susceptibility syndrome relationship: Orphanet:317345 Orphanet:99916 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Ovarian malignant Sertoli-Leydig cell tumor property_value: alternative:term "Dicer" xsd:string property_value: alternative:term "dicer 1, double-stranded RNA-specific endoribonuclease" xsd:string property_value: alternative:term "Dicer1, Dcr-1 homolog (Drosophila)" xsd:string property_value: alternative:term "HERNA" xsd:string property_value: alternative:term "K12H4.8-LIKE" xsd:string property_value: alternative:term "KIAA0928" xsd:string property_value: symbol "DICER1" xsd:string [Term] id: Orphanet:209301 name: transient receptor potential cation channel, subfamily M, member 4 xref: ENSEMBL:ENSG00000130529 xref: GENATLAS:TRPM4 xref: HGNC:17993 xref: IUPHAR:496 xref: OMIM:606936 xref: REACTOME:Q8TD43 xref: UNIPROTKB/SWISSPROT:Q8TD43 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:130 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brugada syndrome relationship: Orphanet:317343 Orphanet:871 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial progressive cardiac conduction defect relationship: Orphanet:317345 Orphanet:130 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brugada syndrome property_value: alternative:term "FLJ20041" xsd:string property_value: symbol "TRPM4" xsd:string [Term] id: Orphanet:209314 name: HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase xref: ENSEMBL:ENSG00000086758 xref: GENATLAS:HUWE1 xref: HGNC:30892 xref: OMIM:300697 xref: REACTOME:Q7Z6Z7 xref: UNIPROTKB/SWISSPROT:Q7Z6Z7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:85328 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intellectual deficit, X-linked, Turner type property_value: alternative:term "HECT, UBA and WWE domain containing 1" xsd:string property_value: alternative:term "Ib772" xsd:string property_value: alternative:term "KIAA0312" xsd:string property_value: alternative:term "UREB1" xsd:string property_value: symbol "HUWE1" xsd:string [Term] id: Orphanet:209325 name: cAMP responsive element binding protein 3-like 2 xref: ENSEMBL:ENSG00000182158 xref: GENATLAS:CREB3L2 xref: HGNC:23720 xref: OMIM:608834 xref: UNIPROTKB/SWISSPROT:Q70SY1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:79105 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myxofibrosarcoma property_value: alternative:term "BBF2H7" xsd:string property_value: alternative:term "TCAG_1951439" xsd:string property_value: symbol "CREB3L2" xsd:string [Term] id: Orphanet:209329 name: cAMP responsive element binding protein 3-like 1 xref: ENSEMBL:ENSG00000157613 xref: GENATLAS:CREB3L1 xref: HGNC:18856 xref: UNIPROTKB/SWISSPROT:Q96BA8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:216812 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 3 relationship: Orphanet:317348 Orphanet:79105 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myxofibrosarcoma property_value: alternative:term "BBF-2 homolog (drosophila)" xsd:string property_value: alternative:term "OASIS" xsd:string property_value: symbol "CREB3L1" xsd:string [Term] id: Orphanet:209335 name: Adult-onset proximal spinal muscular atrophy, autosomal dominant xref: ICD10:G12.1 xref: OMIM:182980 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:211037 ! Autosomal dominant proximal spinal muscular atrophy property_value: alternative:term "Finkel disease" xsd:string [Term] id: Orphanet:209341 name: Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures xref: ICD10:G12.1 xref: OMIM:158600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:211037 ! Autosomal dominant proximal spinal muscular atrophy property_value: alternative:term "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures" xsd:string property_value: alternative:term "SMALED1" xsd:string [Term] id: Orphanet:209370 name: Severe neonatal-onset encephalopathy with microcephaly xref: OMIM:300673 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:166472 ! Monogenic disease with epilepsy relationship: part_of Orphanet:98257 ! Neonatal epilepsy syndrome property_value: alternative:term "Severe congenital encephalopathy due to MECP2 mutation" xsd:string [Term] id: Orphanet:209470 name: peripherin xref: ENSEMBL:ENSG00000135406 xref: GENATLAS:PRPH xref: HGNC:9461 xref: OMIM:170710 xref: UNIPROTKB/SWISSPROT:P41219 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis property_value: alternative:term "NEF4" xsd:string property_value: alternative:term "PRPH1" xsd:string property_value: symbol "PRPH" xsd:string [Term] id: Orphanet:209474 name: EPH receptor A2 xref: ENSEMBL:ENSG00000142627 xref: GENATLAS:EPHA2 xref: HGNC:3386 xref: IUPHAR:1822 xref: OMIM:176946 xref: UNIPROTKB/SWISSPROT:P29317 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98993 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Posterior polar cataract relationship: Orphanet:317343 Orphanet:98994 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Total congenital cataract property_value: alternative:term "ECK" xsd:string property_value: alternative:term "EphA2" xsd:string property_value: symbol "EPHA2" xsd:string [Term] id: Orphanet:209477 name: colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) xref: ENSEMBL:ENSG00000198223 xref: GENATLAS:CSF2RA xref: HGNC:2435 xref: OMIM:306250 xref: REACTOME:P15509 xref: UNIPROTKB/SWISSPROT:P15509 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:264675 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital pulmonary alveolar proteinosis property_value: alternative:term "CD116" xsd:string property_value: alternative:term "CSF2R" xsd:string property_value: symbol "CSF2RA" xsd:string [Term] id: Orphanet:209481 name: growth differentiation factor 6 xref: ENSEMBL:ENSG00000156466 xref: GENATLAS:GDF6 xref: HGNC:4221 xref: OMIM:601147 xref: UNIPROTKB/SWISSPROT:Q6KF10 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2345 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated Klippel-Feil syndrome relationship: Orphanet:317343 Orphanet:65 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber congenital amaurosis relationship: Orphanet:317343 Orphanet:98938 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Colobomatous microphthalmia property_value: alternative:term "BMP13" xsd:string property_value: symbol "GDF6" xsd:string [Term] id: Orphanet:209484 name: NIMA-related kinase 8 xref: ENSEMBL:ENSG00000160602 xref: GENATLAS:NEK8 xref: HGNC:13387 xref: IUPHAR:2123 xref: OMIM:609799 xref: UNIPROTKB/SWISSPROT:Q86SG6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:294415 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Renal-hepatic-pancreatic dysplasia relationship: Orphanet:317343 Orphanet:93591 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile autosomal recessive medullary cystic kidney disease property_value: alternative:term "NIMA (never in mitosis gene a)- related kinase 8" xsd:string property_value: alternative:term "NPHP9" xsd:string property_value: symbol "NEK8" xsd:string [Term] id: Orphanet:2095 name: Gorlin-Chaudhry-Moss syndrome xref: ICD10:Q87.0 xref: MESH:C537290 xref: OMIM:233500 xref: SNOMED CT:205800003 xref: UMLS:C0345382 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Craniofacial dysostosis - genital, dental, cardiac anomalies" xsd:string [Term] id: Orphanet:2097 name: Grant syndrome xref: ICD10:Q87.5 xref: MESH:C537293 xref: OMIM:138930 xref: UMLS:C1841835 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93446 ! Primary bone dysplasia with decreased bone density [Term] id: Orphanet:2098 name: Acromesomelic dysplasia, Grebe type xref: ICD10:Q78.8 xref: OMIM:200700 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93437 ! Acromesomelic dysplasia property_value: alternative:term "Chondrodysplasia, Grebe type" xsd:string [Term] id: Orphanet:209867 name: Autosomal dominant rhegmatogenous retinal detachment xref: ICD10:H33.0 xref: OMIM:609508 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98670 ! Vitreoretinal degeneration [Term] id: Orphanet:209886 name: Familial juvenile hyperuricemic nephropathy type 1 xref: OMIM:162000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79191 ! Disorder of purine metabolism relationship: part_of Orphanet:93587 ! Familial cystic renal disease property_value: alternative:term "Familial juvenile gouty nephropathy" xsd:string property_value: alternative:term "Familial nephropathy with gout" xsd:string property_value: alternative:term "FJHN type 1" xsd:string property_value: alternative:term "UMOD-associated familial juvenile hyperuricemic nephropathy" xsd:string property_value: alternative:term "UMOD-associated FJHN" xsd:string [Term] id: Orphanet:209893 name: Congenital isolated thyroxine-binding globulin deficiency xref: ICD10:E07.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:101955 ! Rare thyroid disease relationship: part_of Orphanet:183631 ! Rare genetic thyroid disease property_value: alternative:term "Congenital isolated TBG deficiency" xsd:string [Term] id: Orphanet:209902 name: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency xref: ICD10:E78.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181422 ! Rare hyperlipidemia relationship: part_of Orphanet:79168 ! Disorder of bile acid synthesis [Term] id: Orphanet:209905 name: Brain-lung-thyroid syndrome xref: ICD10:E03.1 xref: ICD10:P22.8 xref: OMIM:610978 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100049 ! Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:177107 ! Syndromic hypothyroidism relationship: part_of Orphanet:183472 ! Genetic dermis disorder relationship: part_of Orphanet:306719 ! Neurodegenerative disease with chorea property_value: alternative:term "Choreoathetosis - hypothyroidism - neonatal respiratory distress" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)." xsd:string [Term] id: Orphanet:209908 name: Childhood apraxia of speech xref: OMIM:602081 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:211053 ! Specific language disorder relationship: part_of Orphanet:71859 ! Rare genetic neurological disease property_value: alternative:term "CAS" xsd:string property_value: alternative:term "Developmental verbal dyspraxia" xsd:string property_value: alternative:term "Speech and language disorder with orofacial dyspraxia" xsd:string property_value: alternative:term "Speech-language disorder type 1" xsd:string [Term] id: Orphanet:209916 name: Extraskeletal myxoid chondrosarcoma xref: OMIM:612237 xref: SNOMED CT:404079008 xref: UMLS:C1275278 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:3394 ! Soft tissue sarcoma [Term] id: Orphanet:209919 name: Idiopathic copper-associated cirrhosis xref: ICD10:K74.6 xref: OMIM:215600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101939 ! Rare parenchymatous liver disease property_value: alternative:term "Non-Wilsonian hepatic copper toxicosis of infancy and childhood" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining." xsd:string [Term] id: Orphanet:209932 name: Cone dystrophy with supernormal rod response xref: ICD10:H35.5 xref: OMIM:610356 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:71862 ! Retinal dystrophy property_value: alternative:term "Cone dystrophy with supernormal rod electroretinogram" xsd:string property_value: alternative:term "Cone dystrophy with supernormal rod ERG" xsd:string property_value: alternative:term "Cone dystrophy with supernormal scotopic electroretinogram" xsd:string [Term] id: Orphanet:209943 name: IRVAN syndrome xref: ICD10:H35.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease relationship: part_of Orphanet:98657 ! Genetic vitreous-retinal disease property_value: alternative:term "Idiopathic retinal-aneurysms-neuroretinitis syndrome" xsd:string [Term] id: Orphanet:209951 name: Autosomal recessive spastic paraplegia type 18 xref: ICD10:G11.4 xref: OMIM:611225 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100981 ! Autosomal recessive complex spastic paraplegia property_value: alternative:term "SPG18" xsd:string [Term] id: Orphanet:209956 name: Idiopathic uveal effusion syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:280898 ! Panuveitis [Term] id: Orphanet:209959 name: Phakoanaphylactic uveitis xref: ICD10:H20.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:306648 ! Non-infectious anterior uveitis property_value: alternative:term "Endophthalmitis phacoanaphylactica" xsd:string property_value: alternative:term "Lens-induced endophthalmitis" xsd:string property_value: alternative:term "Lens-induced iridocyclitis" xsd:string property_value: alternative:term "Lens-induced uveitis" xsd:string property_value: alternative:term "Phaco-allergic endophthalmitis" xsd:string property_value: alternative:term "Phaco-anaphylactic uveitis" xsd:string property_value: alternative:term "Phaco-anaphylaxis" xsd:string property_value: alternative:term "Phaco-antigenic endophthalmitis" xsd:string property_value: alternative:term "Phacoanaphylaxis" xsd:string property_value: alternative:term "Phako-anaphylactic endophthalmitis" xsd:string property_value: alternative:term "Phako-anaphylactic uveitis" xsd:string [Term] id: Orphanet:209964 name: Solitary rectal ulcer syndrome xref: ICD10:K62.6 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:117569 ! Rare intestinal disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum." xsd:string [Term] id: Orphanet:209967 name: Episodic ataxia type 6 xref: ICD10:G11.8 xref: OMIM:612656 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:211062 ! Hereditary episodic ataxia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia." xsd:string [Term] id: Orphanet:209970 name: Episodic ataxia type 7 xref: ICD10:G11.8 xref: OMIM:611907 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:211062 ! Hereditary episodic ataxia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings." xsd:string [Term] id: Orphanet:209973 name: Benign familial nocturnal alternating hemiplegia of childhood is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:209978 ! Alternating hemiplegia property_value: alternative:term "Benign familial nocturnal alternating hemiplegia in childhood" xsd:string [Term] id: Orphanet:209978 name: Alternating hemiplegia xref: SNOMED CT:404689008 is_a: Orphanet:71859 ! Rare genetic neurological disease is_a: Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:209981 name: IRIDA syndrome xref: ICD10:D50.8 xref: OMIM:206200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98360 ! Constitutional anemia due to iron metabolism disorder property_value: alternative:term "Iron-refractory iron deficiency anemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment." xsd:string [Term] id: Orphanet:209989 name: Non-papillary transitional cell carcinoma of the bladder xref: ICD10:C67 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:98058 ! Rare urinary tract tumor property_value: alternative:term "Non-papillary urothelial carcinoma" xsd:string [Term] id: Orphanet:210 name: Cyclosporosis xref: ICD10:A07.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163588 ! Rare parasitic disease [Term] id: Orphanet:2101 name: Grubben-de Cock-Borghgraef syndrome xref: MESH:C537621 xref: OMIM:233810 xref: UMLS:C2931551 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Developmental delay - hypotonia - extremities hypertrophy" xsd:string [Term] id: Orphanet:210110 name: Intermediate osteopetrosis xref: ICD10:Q78.2 xref: OMIM:611497 xref: SNOMED CT:254121000 xref: UMLS:C0432261 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2781 ! Osteopetrosis property_value: alternative:term "Autosomal recessive intermediate osteopetrosis" xsd:string [Term] id: Orphanet:210115 name: Sterile multifocal osteomyelitis with periostitis and pustulosis xref: OMIM:612852 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:290839 ! Autoinflammatory syndrome with immune deficiency relationship: part_of Orphanet:290842 ! Autoinflammatory syndrome with skin involvement relationship: part_of Orphanet:324927 ! Pyogenic autoinflammatory syndrome property_value: alternative:term "Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency" xsd:string property_value: alternative:term "DIRA" xsd:string property_value: alternative:term "Interleukin-1 receptor antagonist deficiency" xsd:string property_value: alternative:term "OMPP" xsd:string [Term] id: Orphanet:210122 name: Congenital alveolar capillary dysplasia xref: OMIM:265380 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:264683 ! Primary interstitial lung disease specific to childhood due to alveolar vascular disorder relationship: part_of Orphanet:264992 ! Genetic interstitial lung disease property_value: alternative:term "Alveolar capillary dysplasia with misalignment of pulmonary veins" xsd:string property_value: alternative:term "Alveolar capillary dysplasia with misalignment of pulmonary vessels" xsd:string [Term] id: Orphanet:210128 name: Urocanic aciduria xref: ICD10:E70.8 xref: OMIM:276880 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79181 ! Disorder of histidine metabolism property_value: alternative:term "Encephalopathy due to urocanase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." xsd:string [Term] id: Orphanet:210133 name: Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair xref: ICD10:Q82.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79370 ! Syndromic nail anomaly relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin [Term] id: Orphanet:210136 name: Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101939 ! Rare parenchymatous liver disease relationship: part_of Orphanet:264740 ! Primary interstitial lung disease specific to adulthood property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named “trimorphic syndrome” (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality." xsd:string [Term] id: Orphanet:210141 name: Inherited congenital spastic tetraplegia xref: OMIM:603513 xref: OMIM:612900 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:71859 ! Rare genetic neurological disease relationship: part_of Orphanet:98006 ! Rare neurologic disease property_value: alternative:term "Inherited congenital spastic quadriplegia" xsd:string [Term] id: Orphanet:210144 name: Lethal polymalformative syndrome, Boissel type xref: ICD10:Q87.8 xref: OMIM:612938 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183533 ! Genetic multiple congenital anomalies/dysmorphic syndrome relationship: part_of Orphanet:68341 ! Multiple congenital anomalies/dysmorphic syndrome [Term] id: Orphanet:210159 name: Adult hepatocellular carcinoma xref: ICD10:C22.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:88673 ! Hepatocellular carcinoma property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure." xsd:string [Term] id: Orphanet:210163 name: Congenital lethal myopathy, Compton-North type xref: ICD10:G71.2 xref: OMIM:612540 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:97245 ! Congenital myopathy [Term] id: Orphanet:2102 name: GTP cyclohydrolase I deficiency xref: ICD10:E70.1 xref: ICD10:E79.8 xref: OMIM:233910 xref: SNOMED CT:23447005 xref: UMLS:C0268467 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:238583 ! Hyperphenylalaninemia property_value: alternative:term "GTPCH deficiency" xsd:string property_value: alternative:term "Hyperphenylalaninemia due to GTP cyclohydrolase deficiency" xsd:string [Term] id: Orphanet:210272 name: Mal de débarquement xref: MEDDRA:10064924 xref: MESH:C537840 xref: UMLS:C1608983 is_a: Orphanet:377792 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical syndrome relationship: part_of Orphanet:98036 ! Rare otorhinolaryngologic disease property_value: alternative:term "disembarkment syndrome" xsd:string property_value: alternative:term "MdD" xsd:string property_value: alternative:term "MdDS" xsd:string property_value: alternative:term "Sickness of disembarkment" xsd:string [Term] id: Orphanet:2103 name: Guillain-Barré syndrome xref: ICD10:G61.0 xref: MEDDRA:10018767 xref: MESH:D020275 xref: SNOMED CT:40956001 xref: UMLS:C0018378 is_a: Orphanet:182064 ! Rare neuroinflammatory or neuroimmunological disease is_a: Orphanet:207038 ! Acute and subacute inflammatory demyelinating polyneuropathy relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "GBS" xsd:string property_value: alternative:term "Guillain-Barré-Strohl syndrome" xsd:string [Term] id: Orphanet:210548 name: Macrocephaly-autism syndrome xref: OMIM:605309 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:180772 ! Rare disease with autism relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature relationship: part_of Orphanet:269564 ! Genetic syndrome with a central nervous system malformation as major feature [Term] id: Orphanet:210566 name: Myoclonic dystonia 15 is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_36899 with label: Myoclonus-dystonia syndrome" xsd:string [Term] id: Orphanet:210571 name: Dystonia 16 xref: ICD10:G24.1 xref: OMIM:612067 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:306666 ! Rare parkinsonian syndrome due to neurodegenerative disease relationship: part_of Orphanet:307055 ! Rare parkinsonian syndrome due to genetic neurodegenerative disease relationship: part_of Orphanet:98203 ! Combined dystonia property_value: alternative:term "DYT16" xsd:string property_value: alternative:term "Early-onset dystonia parkinsonism" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism." xsd:string [Term] id: Orphanet:210576 name: Congenital temporomandibular joint ankylosis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:210581 ! Temporomandibular joint anomaly property_value: alternative:term "Congenital trismus" xsd:string [Term] id: Orphanet:210581 name: Temporomandibular joint anomaly is_a: Orphanet:68329 ! Rare maxillo-facial surgical disease [Term] id: Orphanet:210584 name: Spindle cell hemangioma xref: ICD10:D18.0 xref: SNOMED CT:128769003 xref: SNOMED CT:403967000 xref: UMLS:C1304508 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:210592 ! Giant infantile hemangioma property_value: alternative:term "Spindle cell hemangioendothelioma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in Kaposi’s sarcoma and located in the dermis and subcutis." xsd:string [Term] id: Orphanet:210589 name: Infantile hemangioma of rare localization is_a: Orphanet:211237 ! Vascular tumor [Term] id: Orphanet:210592 name: Giant infantile hemangioma xref: ICD10:D18.0 is_a: Orphanet:211237 ! Vascular tumor [Term] id: Orphanet:2107 name: Hall-Riggs syndrome xref: ICD10:Q87.0 xref: OMIM:234250 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit." xsd:string [Term] id: Orphanet:2108 name: Hallermann-Streiff syndrome xref: ICD10:Q87.0 xref: OMIM:234100 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139021 ! Malformation syndrome with short stature relationship: part_of Orphanet:183570 ! Genetic malformation syndrome with short stature relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:79389 ! Premature aging relationship: part_of Orphanet:93440 ! Slender bone dysplasia relationship: part_of Orphanet:98598 ! Congenital absence of the eyebrow/eyelashes relationship: part_of Orphanet:98650 ! Craniofacial anomaly with cataract relationship: part_of Orphanet:98709 ! Ectodermal malformation syndrome associated with ocular features property_value: alternative:term "François dyscephalic syndrome" xsd:string [Term] id: Orphanet:211 name: Familial cylindromatosis xref: MESH:C536611 xref: OMIM:132700 xref: SNOMED CT:211710004 xref: UMLS:C1704217 xref: UMLS:C1851526 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:79493 ! Brooke-Spiegler syndrome property_value: alternative:term "Turban tumor syndrome" xsd:string [Term] id: Orphanet:2110 name: Hallux varus - preaxial polysyndactyly xref: ICD10:Q74.2 xref: OMIM:234280 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "Kleiner-Holmes syndrome" xsd:string [Term] id: Orphanet:211008 name: major histocompatibility complex, class II, DQ beta 1 xref: ENSEMBL:ENSG00000179344 xref: GENATLAS:HLA-DQB1 xref: HGNC:4944 xref: OMIM:604305 xref: REACTOME:P01920 xref: UNIPROTKB/SWISSPROT:P01920 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:2073 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Narcolepsy-cataplexy relationship: Orphanet:317345 Orphanet:703 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Bullous pemphigoid relationship: Orphanet:317345 Orphanet:83465 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Narcolepsy without cataplexy property_value: alternative:term "CELIAC1" xsd:string property_value: alternative:term "HLA-DQB" xsd:string property_value: alternative:term "IDDM1" xsd:string property_value: symbol "HLA-DQB1" xsd:string [Term] id: Orphanet:211017 name: Spinocerebellar ataxia type 30 xref: ICD10:G11 xref: MESH:C537206 xref: OMIM:613371 xref: UMLS:C2936793 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:94148 ! Autosomal dominant cerebellar ataxia type 3 property_value: alternative:term "SCA30" xsd:string [Term] id: Orphanet:211037 name: Autosomal dominant proximal spinal muscular atrophy xref: ICD10:G12.1 is_a: Orphanet:98505 ! Genetic motor neuron disease [Term] id: Orphanet:211047 name: Specific learning disability is_a: Orphanet:98006 ! Rare neurologic disease property_value: alternative:term "Specific learning difficulty" xsd:string property_value: alternative:term "Specific learning disorder" xsd:string [Term] id: Orphanet:211053 name: Specific language disorder is_a: Orphanet:211047 ! Specific learning disability property_value: alternative:term "Dysphasia" xsd:string [Term] id: Orphanet:211062 name: Hereditary episodic ataxia xref: ICD10:G11.8 is_a: Orphanet:183518 ! Rare hereditary ataxia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7, see these terms), but most of the reported cases belong to EA1 and EA2." xsd:string [Term] id: Orphanet:211067 name: Episodic ataxia type 5 xref: ICD10:G11.8 xref: OMIM:613855 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:211062 ! Hereditary episodic ataxia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours." xsd:string [Term] id: Orphanet:211237 name: Vascular tumor is_a: Orphanet:68419 ! Vascular anomaly or angioma [Term] id: Orphanet:211240 name: Genetic vascular anomaly is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis [Term] id: Orphanet:211243 name: Vascular malformation is_a: Orphanet:68419 ! Vascular anomaly or angioma [Term] id: Orphanet:211247 name: Capillary malformation xref: SNOMED CT:234118009 xref: UMLS:C0340803 is_a: Orphanet:211243 ! Vascular malformation [Term] id: Orphanet:211252 name: Venous malformation xref: ICD10:Q27.8 xref: MEDDRA:10025532 xref: SNOMED CT:234124003 xref: UMLS:C0265950 is_a: Orphanet:211243 ! Vascular malformation [Term] id: Orphanet:211255 name: Lymphatic system malformation is_a: Orphanet:211243 ! Vascular malformation [Term] id: Orphanet:211266 name: Arteriovenous malformation xref: ICD10:Q27.3 xref: MEDDRA:10003193 xref: MESH:D001165 xref: SNOMED CT:234141001 xref: SNOMED CT:24551003 xref: UMLS:C0003857 xref: UMLS:C0334533 is_a: Orphanet:211243 ! Vascular malformation [Term] id: Orphanet:211277 name: Complex - combined vascular malformation is_a: Orphanet:211243 ! Vascular malformation property_value: alternative:term "Hemangiolymphangioma" xsd:string [Term] id: Orphanet:2113 name: Congenital hypothalamic hamartoma syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_672 with label: Pallister-Hall syndrome" xsd:string [Term] id: Orphanet:2114 name: Hip dysplasia, Beukes type xref: ICD10:Q65.8 xref: OMIM:142669 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93429 ! Multiple epiphyseal dysplasia and pseudoachondroplasia property_value: alternative:term "Beukes familial hip dysplasia" xsd:string property_value: alternative:term "BFHD" xsd:string property_value: alternative:term "Cilliers-Beighton syndrome" xsd:string property_value: alternative:term "Premature degenerative osteoarthropathy of the hip" xsd:string [Term] id: Orphanet:2115 name: Harrod syndrome xref: ICD10:Q87.0 xref: OMIM:601095 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Cranio-facio-digito-genital syndrome" xsd:string [Term] id: Orphanet:2116 name: Hartnup syndrome xref: ICD10:E72.0 xref: MEDDRA:10019165 xref: MESH:D006250 xref: OMIM:234500 xref: SNOMED CT:124208000 xref: SNOMED CT:80902009 xref: UMLS:C0018609 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:183490 ! Genetic photodermatosis relationship: part_of Orphanet:308451 ! Disorder of neutral amino acid transport relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79390 ! Rare photodermatosis relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease property_value: alternative:term "Aminoaciduria, Hartnup type" xsd:string property_value: alternative:term "Hartnup disorder" xsd:string [Term] id: Orphanet:2117 name: Hartsfield-Bixler-Demyer syndrome xref: OMIM:615465 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome property_value: alternative:term "Holoprosencephaly - ectrodactyly - cleft lip palate" xsd:string [Term] id: Orphanet:2118 name: Hawkinsinuria xref: ICD10:E70.2 xref: MESH:C535845 xref: OMIM:140350 xref: SNOMED CT:414380008 xref: UMLS:C2931042 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:284818 ! Disorder of tyrosine metabolism property_value: alternative:term "4-alpha-hydroxyphenylpyruvate hydroxylase deficiency" xsd:string property_value: alternative:term "4-HPPD deficiency" xsd:string property_value: alternative:term "4-hydroxyphenylpyruvic acid dioxygenase deficiency" xsd:string [Term] id: Orphanet:2119 name: HEC syndrome xref: ICD10:Q87.8 xref: OMIM:600559 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:217604 ! Dilated cardiomyopathy relationship: part_of Orphanet:217632 ! Restrictive cardiomyopathy property_value: alternative:term "Hydrocephalus - endocardial fibroelastosis - cataract" xsd:string [Term] id: Orphanet:212 name: Cystathioninuria xref: ICD10:E72.1 xref: MESH:C535408 xref: OMIM:219500 xref: SNOMED CT:13003007 xref: SNOMED CT:367036006 xref: SNOMED CT:6885006 xref: UMLS:C0220993 xref: UMLS:C0268616 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:79173 ! Disorder of methionine cycle and sulfur amino acid metabolism property_value: alternative:term "Cystathionase deficiency" xsd:string property_value: alternative:term "Cystathione gamma - lyase deficiency" xsd:string property_value: alternative:term "Gamma-cystathionase deficiency" xsd:string [Term] id: Orphanet:2122 name: Kaposiform hemangioendothelioma xref: ICD10:D18.0 xref: MESH:C537007 xref: SNOMED CT:403983000 xref: UMLS:C1367420 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:211237 ! Vascular tumor relationship: part_of Orphanet:71209 ! Rare soft tissue tumor [Term] id: Orphanet:2123 name: Diffuse neonatal hemangiomatosis xref: ICD10:D18.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:211237 ! Vascular tumor property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges." xsd:string [Term] id: Orphanet:2124 name: Cavernous hemangiomas of face - supraumbilical midline raphe xref: ICD10:D18.0 xref: OMIM:140850 xref: SNOMED CT:234140000 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:211237 ! Vascular tumor [Term] id: Orphanet:2125 name: Sacral hemangiomas - multiple congenital abnormalities is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_83628 with label: PELVIS syndrome" xsd:string [Term] id: Orphanet:212587 name: spinocerebellar ataxia 21 xref: HGNC:17172 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98773 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 21 property_value: symbol "SCA21" xsd:string [Term] id: Orphanet:212594 name: prodynorphin xref: ENSEMBL:ENSG00000101327 xref: GENATLAS:PDYN xref: HGNC:8820 xref: OMIM:131340 xref: REACTOME:P01213 xref: UNIPROTKB/SWISSPROT:P01213 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101108 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 23 property_value: alternative:term "ADCA" xsd:string property_value: alternative:term "beta-neoendorphin" xsd:string property_value: alternative:term "dynorphin" xsd:string property_value: alternative:term "leu-enkephalin" xsd:string property_value: alternative:term "leumorphin" xsd:string property_value: alternative:term "neoendorphin-dynorphin-enkephalin prepropeptide" xsd:string property_value: alternative:term "PENKB" xsd:string property_value: alternative:term "preproenkephalin B" xsd:string property_value: alternative:term "rimorphin" xsd:string property_value: alternative:term "SCA23" xsd:string property_value: alternative:term "spinocerebellar ataxia 23" xsd:string property_value: symbol "PDYN" xsd:string [Term] id: Orphanet:2126 name: Solitary fibrous tumor xref: ICD10:C49.9 xref: MEDDRA:10018825 xref: MESH:D006393 xref: OMIM:234820 xref: SNOMED CT:134335004 xref: SNOMED CT:36060005 xref: UMLS:C0018922 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:3394 ! Soft tissue sarcoma [Term] id: Orphanet:212604 name: AFG3-like AAA ATPase 2 xref: ENSEMBL:ENSG00000141385 xref: GENATLAS:AFG3L2 xref: HGNC:315 xref: OMIM:604581 xref: UNIPROTKB/SWISSPROT:Q9Y4W6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101109 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 28 relationship: Orphanet:317343 Orphanet:313772 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early-onset spastic ataxia-neuropathy syndrome property_value: alternative:term "AFG3 (ATPase family gene 3, yeast)-like 2" xsd:string property_value: alternative:term "AFG3 ATPase family gene 3-like 2 (S. cerevisiae)" xsd:string property_value: alternative:term "AFG3 ATPase family gene 3-like 2 (yeast)" xsd:string property_value: alternative:term "AFG3 ATPase family member 3-like 2 (S. cerevisiae)" xsd:string property_value: alternative:term "SCA28" xsd:string property_value: alternative:term "spinocerebellar ataxia 28" xsd:string property_value: symbol "AFG3L2" xsd:string [Term] id: Orphanet:212610 name: spinocerebellar ataxia 20 xref: HGNC:17204 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 20 property_value: symbol "SCA20" xsd:string [Term] id: Orphanet:212612 name: spinocerebellar ataxia 25 xref: HGNC:20684 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101111 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 25 property_value: symbol "SCA25" xsd:string [Term] id: Orphanet:212614 name: spinocerebellar ataxia 26 xref: HGNC:31097 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101112 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Spinocerebellar ataxia type 26 property_value: symbol "SCA26" xsd:string [Term] id: Orphanet:212618 name: spinocerebellar ataxia 30 xref: HGNC:33445 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:211017 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 30 property_value: symbol "SCA30" xsd:string [Term] id: Orphanet:2128 name: Hemihypertrophy xref: ICD10:Q87.3 xref: MEDDRA:10019463 xref: OMIM:235000 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:156207 ! Macroglossia relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:93460 ! Overgrowth syndrome property_value: alternative:term "Hemi 3 syndrome" xsd:string property_value: alternative:term "Hemicorporal hypertrophy" xsd:string property_value: alternative:term "Isolated hemihyperplasia" xsd:string [Term] id: Orphanet:212874 name: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 xref: ENSEMBL:ENSG00000123561 xref: GENATLAS:SERPINA7 xref: HGNC:11583 xref: OMIM:314200 xref: UNIPROTKB/SWISSPROT:P05543 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:209893 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital isolated thyroxine-binding globulin deficiency property_value: alternative:term "alpha-1 antiproteinase, antitrypsin" xsd:string property_value: alternative:term "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7" xsd:string property_value: alternative:term "TBG" xsd:string property_value: alternative:term "thyroxin-binding globulin" xsd:string property_value: alternative:term "thyroxine-binding globulin" xsd:string property_value: symbol "SERPINA7" xsd:string [Term] id: Orphanet:212878 name: contactin 1 xref: ENSEMBL:ENSG00000018236 xref: GENATLAS:CNTN1 xref: HGNC:2171 xref: OMIM:600016 xref: REACTOME:Q12860 xref: UNIPROTKB/SWISSPROT:Q12860 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:210163 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital lethal myopathy, Compton-North type property_value: alternative:term "F3" xsd:string property_value: alternative:term "glycoprotein gP135" xsd:string property_value: alternative:term "GP135" xsd:string property_value: symbol "CNTN1" xsd:string [Term] id: Orphanet:212882 name: cytochrome P450, family 7, subfamily A, polypeptide 1 xref: ENSEMBL:ENSG00000167910 xref: GENATLAS:CYP7A1 xref: HGNC:2651 xref: OMIM:118455 xref: REACTOME:P22680 xref: UNIPROTKB/SWISSPROT:P22680 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:209902 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency property_value: alternative:term "cholesterol 7 alpha-monooxygenase" xsd:string property_value: alternative:term "CYP7" xsd:string property_value: alternative:term "cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1" xsd:string property_value: symbol "CYP7A1" xsd:string [Term] id: Orphanet:212885 name: forkhead box P2 xref: ENSEMBL:ENSG00000128573 xref: GENATLAS:FOXP2 xref: HGNC:13875 xref: OMIM:605317 xref: UNIPROTKB/SWISSPROT:O15409 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:209908 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Childhood apraxia of speech relationship: Orphanet:317349 Orphanet:251061 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 7q31 microdeletion syndrome property_value: alternative:term "CAG repeat protein 44" xsd:string property_value: alternative:term "CAGH44" xsd:string property_value: alternative:term "forkhead/winged-helix transcription factor" xsd:string property_value: alternative:term "SPCH1" xsd:string property_value: alternative:term "speech and language disorder 1" xsd:string property_value: alternative:term "TNRC10" xsd:string property_value: alternative:term "trinucleotide repeat containing 10" xsd:string property_value: symbol "FOXP2" xsd:string [Term] id: Orphanet:212892 name: solute carrier family 1 (glial high affinity glutamate transporter), member 3 xref: ENSEMBL:ENSG00000079215 xref: GENATLAS:SLC1A3 xref: HGNC:10941 xref: OMIM:600111 xref: REACTOME:P43003 xref: UNIPROTKB/SWISSPROT:P43003 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:209967 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Episodic ataxia type 6 relationship: Orphanet:317343 Orphanet:2131 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alternating hemiplegia of childhood property_value: alternative:term "EA6" xsd:string property_value: alternative:term "EAAT1" xsd:string property_value: alternative:term "GLAST" xsd:string property_value: alternative:term "glutamate transporter variant EAAT1ex9skip" xsd:string property_value: symbol "SLC1A3" xsd:string [Term] id: Orphanet:212898 name: pleckstrin homology domain containing, family M (with RUN domain) member 1 xref: ENSEMBL:ENSG00000225190 xref: GENATLAS:PLEKHM1 xref: HGNC:29017 xref: OMIM:611466 xref: UNIPROTKB/SWISSPROT:Q9Y4G2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:210110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intermediate osteopetrosis property_value: alternative:term "KIAA0356" xsd:string property_value: symbol "PLEKHM1" xsd:string [Term] id: Orphanet:212902 name: interleukin 1 receptor antagonist xref: ENSEMBL:ENSG00000136689 xref: GENATLAS:IL1RN xref: HGNC:6000 xref: OMIM:147679 xref: REACTOME:P18510 xref: UNIPROTKB/SWISSPROT:P18510 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:210115 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sterile multifocal osteomyelitis with periostitis and pustulosis property_value: alternative:term "ICIL-1RA" xsd:string property_value: alternative:term "IL-1RN" xsd:string property_value: alternative:term "IL1F3" xsd:string property_value: alternative:term "IL1RA" xsd:string property_value: alternative:term "interleukin-1 receptor antagonist protein" xsd:string property_value: alternative:term "intracellular interleukin-1 receptor antagonist" xsd:string property_value: alternative:term "IRAP" xsd:string property_value: alternative:term "MGC10430" xsd:string property_value: symbol "IL1RN" xsd:string [Term] id: Orphanet:212909 name: forkhead box F1 xref: ENSEMBL:ENSG00000103241 xref: GENATLAS:FOXF1 xref: HGNC:3809 xref: OMIM:601089 xref: UNIPROTKB/SWISSPROT:Q12946 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:210122 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital alveolar capillary dysplasia property_value: alternative:term "FKHL5" xsd:string property_value: alternative:term "FREAC1" xsd:string property_value: symbol "FOXF1" xsd:string [Term] id: Orphanet:212917 name: urocanate hydratase 1 xref: ENSEMBL:ENSG00000159650 xref: GENATLAS:UROC1 xref: HGNC:26444 xref: OMIM:613012 xref: REACTOME:Q96N76 xref: UNIPROTKB/SWISSPROT:Q96N76 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:210128 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Urocanic aciduria property_value: alternative:term "FLJ31300" xsd:string property_value: alternative:term "HMFN0320" xsd:string property_value: alternative:term "urocanase 1" xsd:string property_value: alternative:term "Urocanase domain containing 1" xsd:string property_value: symbol "UROC1" xsd:string [Term] id: Orphanet:212921 name: adaptor-related protein complex 4, mu 1 subunit xref: ENSEMBL:ENSG00000221838 xref: GENATLAS:AP4M1 xref: HGNC:574 xref: OMIM:602296 xref: UNIPROTKB/SWISSPROT:O00189 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280763 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe intellectual deficit and progressive spastic paraplegia property_value: alternative:term "adaptor-related protein complex AP-4 mu4 subunit" xsd:string property_value: alternative:term "AP-4 adapter complex mu subunit" xsd:string property_value: alternative:term "mu subunit of AP-4" xsd:string property_value: alternative:term "MU-4" xsd:string property_value: alternative:term "mu-adaptin-related protein-2" xsd:string property_value: alternative:term "MU-ARP2" xsd:string property_value: alternative:term "SPG50" xsd:string property_value: symbol "AP4M1" xsd:string [Term] id: Orphanet:212927 name: fat mass and obesity associated xref: ENSEMBL:ENSG00000140718 xref: GENATLAS:FTO xref: HGNC:24678 xref: OMIM:610966 xref: UNIPROTKB/SWISSPROT:Q9C0B1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:210144 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lethal polymalformative syndrome, Boissel type property_value: alternative:term "AlkB homolog 9" xsd:string property_value: alternative:term "ALKBH9" xsd:string property_value: alternative:term "alpha-ketoglutarate-dependent dioxygenase" xsd:string property_value: alternative:term "KIAA1752" xsd:string property_value: alternative:term "MGC5149" xsd:string property_value: symbol "FTO" xsd:string [Term] id: Orphanet:213 name: Cystinosis xref: ICD10:E72.0 xref: MEDDRA:10011777 xref: MESH:D003554 xref: OMIM:219750 xref: OMIM:219800 xref: OMIM:219900 xref: SNOMED CT:190681003 xref: UMLS:C0010690 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:79207 ! Disorder of lysosomal amino acid transport relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy relationship: part_of Orphanet:98711 ! Metabolic disease with corneal opacity relationship: part_of Orphanet:98713 ! Metabolic disease with pigmentary retinitis property_value: alternative:term "Protein defect of cystin transport" xsd:string [Term] id: Orphanet:2130 name: Hemimelia xref: ICD10:Q71.8 xref: ICD10:Q72.8 xref: ICD10:Q73.8 xref: MEDDRA:10019464 xref: SNOMED CT:33076008 xref: UMLS:C0018987 is_a: Orphanet:93457 ! Non syndromic limb reduction defect property_value: alternative:term "Longitudinal meromelia" xsd:string [Term] id: Orphanet:213048 name: protein kinase, interferon-inducible double stranded RNA dependent activator xref: ENSEMBL:ENSG00000180228 xref: GENATLAS:PRKRA xref: HGNC:9438 xref: OMIM:603424 xref: REACTOME:O75569 xref: UNIPROTKB/SWISSPROT:O75569 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:210571 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dystonia 16 property_value: alternative:term "DYT16" xsd:string property_value: alternative:term "HSD14" xsd:string property_value: alternative:term "PACT" xsd:string property_value: alternative:term "protein activator of the interferon-induced protein kinase" xsd:string property_value: alternative:term "RAX" xsd:string property_value: symbol "PRKRA" xsd:string [Term] id: Orphanet:2131 name: Alternating hemiplegia of childhood xref: ICD10:G98 xref: MESH:C536589 xref: OMIM:104290 xref: OMIM:614820 xref: SNOMED CT:230466004 xref: UMLS:C0338488 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:209978 ! Alternating hemiplegia property_value: alternative:term "AHC" xsd:string property_value: alternative:term "Alternating hemiplegia in childhood" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment." xsd:string [Term] id: Orphanet:2132 name: Hemoglobin C disease xref: ICD10:D58.2 xref: MEDDRA:10018883 xref: MESH:D006445 xref: SNOMED CT:51053007 xref: UMLS:C0019021 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:68364 ! Hemoglobinopathy [Term] id: Orphanet:2133 name: Hemoglobin E disease xref: ICD10:D58.2 xref: MEDDRA:10053215 xref: SNOMED CT:25065001 xref: UMLS:C0238159 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:68364 ! Hemoglobinopathy [Term] id: Orphanet:2134 name: Atypical hemolytic uremic syndrome xref: ICD10:D58.8 xref: MESH:C538266 xref: OMIM:235400 xref: OMIM:612922 xref: OMIM:612923 xref: OMIM:612924 xref: OMIM:612925 xref: OMIM:612926 xref: OMIM:615008 xref: UMLS:C2931788 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:182043 ! Rare constitutional hemolytic anemia relationship: part_of Orphanet:183589 ! Genetic thrombotic microangiopathy relationship: part_of Orphanet:93573 ! Thrombotic microangiopathy property_value: alternative:term "aHUS" xsd:string property_value: alternative:term "Atypical HUS" xsd:string property_value: alternative:term "D-HUS" xsd:string property_value: alternative:term "Hemolytic-uremic syndrome without diarrhea" xsd:string [Term] id: Orphanet:2135 name: Hennekam-Beemer syndrome xref: ICD10:Q82.2 xref: OMIM:248910 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "Mastocytosis - short stature - hearing loss" xsd:string [Term] id: Orphanet:213500 name: Rare ovarian cancer xref: ICD10:C56 is_a: Orphanet:180220 ! Rare uterine adnexal tumor property_value: alternative:term "Rare ovarian malignant tumor" xsd:string [Term] id: Orphanet:213504 name: Ovarian adenocarcinoma xref: ICD10:C56 xref: MEDDRA:10051938 xref: UMLS:C0948216 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213500 ! Rare ovarian cancer [Term] id: Orphanet:213512 name: Malignant mixed epithelial mesenchymal tumor of the ovary xref: ICD10:C56 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213500 ! Rare ovarian cancer property_value: alternative:term "Ovarian carcinosarcoma" xsd:string [Term] id: Orphanet:213517 name: Familial ovarian cancer xref: ICD10:C56 is_a: Orphanet:183734 ! Genetic gynecological tumor is_a: Orphanet:213500 ! Rare ovarian cancer property_value: alternative:term "Familial ovarian malignant tumor" xsd:string [Term] id: Orphanet:213524 name: Hereditary site-specific ovarian cancer syndrome xref: ICD10:C56 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:183731 ! Rare genetic gynecological and obstetrical diseases relationship: part_of Orphanet:213517 ! Familial ovarian cancer [Term] id: Orphanet:213528 name: Rare adenocarcinoma of the breast xref: ICD10:C50 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:180257 ! Rare malignant breast tumor [Term] id: Orphanet:213531 name: Metaplastic carcinoma of the breast xref: ICD10:C50 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:180257 ! Rare malignant breast tumor [Term] id: Orphanet:213557 name: Salivary gland type cancer of the breast xref: ICD10:C50 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:180257 ! Rare malignant breast tumor property_value: alternative:term "Salivary gland type carcinoma of the breast" xsd:string [Term] id: Orphanet:213564 name: Rare uterine cancer xref: ICD10:C53 xref: ICD10:C54 xref: ICD10:C55 is_a: Orphanet:98063 ! Rare gynecological tumor property_value: alternative:term "Rare cancer of the uterus" xsd:string property_value: alternative:term "Rare malignant tumor of the uterus" xsd:string property_value: alternative:term "Rare uterine malignant tumor" xsd:string [Term] id: Orphanet:213569 name: Rare cancer of the corpus uteri xref: ICD10:C54 is_a: Orphanet:213564 ! Rare uterine cancer property_value: alternative:term "Rare malignant tumor of the corpus uteri" xsd:string [Term] id: Orphanet:213574 name: Rare adenocarcinoma of the corpus uteri xref: ICD10:C54 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213569 ! Rare cancer of the corpus uteri [Term] id: Orphanet:213589 name: Malignant mixed epithelial and mesenchymal tumor of the corpus uteri xref: ICD10:C54 is_a: Orphanet:213569 ! Rare cancer of the corpus uteri property_value: alternative:term "Mixed epithelial and mesenchymal cancer of the corpus uteri" xsd:string [Term] id: Orphanet:2136 name: Hennekam syndrome xref: ICD10:Q87.8 xref: OMIM:235510 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:89832 ! Syndromic lymphedema property_value: alternative:term "Lymphedema - lymphangiectasia - intellectual deficit" xsd:string [Term] id: Orphanet:213600 name: Adenosarcoma of the corpus uteri xref: ICD10:C54 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213589 ! Malignant mixed epithelial and mesenchymal tumor of the corpus uteri [Term] id: Orphanet:213605 name: Carcinofibroma of the corpus uteri xref: ICD10:C54 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213589 ! Malignant mixed epithelial and mesenchymal tumor of the corpus uteri [Term] id: Orphanet:213610 name: Malignant mixed müllerian tumor of the corpus uteri xref: ICD10:C54 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213589 ! Malignant mixed epithelial and mesenchymal tumor of the corpus uteri property_value: alternative:term "Mixed müllerian cancer of the corpus uteri" xsd:string [Term] id: Orphanet:213615 name: Rhabdomyosarcoma of the corpus uteri xref: ICD10:C54 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213620 ! Sarcoma of the corpus uteri [Term] id: Orphanet:213620 name: Sarcoma of the corpus uteri xref: ICD10:C54 xref: MEDDRA:10039497 xref: SNOMED CT:254877001 xref: UMLS:C0338113 is_a: Orphanet:213569 ! Rare cancer of the corpus uteri [Term] id: Orphanet:213625 name: Leiomyosarcoma of the corpus uteri xref: ICD10:C54 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213620 ! Sarcoma of the corpus uteri [Term] id: Orphanet:213630 name: Malignant peripheral neuroectodermal tumor of the corpus uteri xref: ICD10:C54 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213620 ! Sarcoma of the corpus uteri property_value: alternative:term "Peripheral neuroectodermal cancer of the corpus uteri" xsd:string [Term] id: Orphanet:2137 name: Chronic autoimmune hepatitis xref: ICD10:K75.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:101939 ! Rare parenchymatous liver disease property_value: alternative:term "Autoimmune hepatitis" xsd:string [Term] id: Orphanet:213711 name: Endometrial stromal sarcoma xref: ICD10:C50 xref: MEDDRA:10057649 xref: MESH:D018203 xref: UMLS:C0206630 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213569 ! Rare cancer of the corpus uteri property_value: alternative:term "Stromal sarcoma of the corpus uteri" xsd:string [Term] id: Orphanet:213716 name: Squamous cell carcinoma of the corpus uteri xref: ICD10:C50 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213569 ! Rare cancer of the corpus uteri property_value: alternative:term "Endometrial squamous cell carcinoma" xsd:string [Term] id: Orphanet:213721 name: Undifferentiated carcinoma of the corpus uteri xref: ICD10:C50 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213569 ! Rare cancer of the corpus uteri property_value: alternative:term "Endometrial undifferentiated carcinoma" xsd:string [Term] id: Orphanet:213726 name: Papillary carcinoma of the corpus uteri xref: ICD10:C54 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213569 ! Rare cancer of the corpus uteri property_value: alternative:term "Endometrial capillary carcinoma" xsd:string [Term] id: Orphanet:213731 name: Poorly differentiated endocrine carcinoma of the corpus uteri xref: ICD10:C54 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213569 ! Rare cancer of the corpus uteri property_value: alternative:term "Poorly differentiated endocrine carcinoma of the endometrium" xsd:string [Term] id: Orphanet:213736 name: Well-differentiated endocrine neoplasm of the corpus uteri xref: ICD10:C54 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213569 ! Rare cancer of the corpus uteri property_value: alternative:term "Well-differentiated endocrine neoplasm of the endometrium" xsd:string property_value: alternative:term "Well-differentiated endocrine tumor of the corpus uteri" xsd:string property_value: alternative:term "Well-differentiated endocrine tumor of the endometrium" xsd:string [Term] id: Orphanet:213741 name: Adenoid cystic carcinoma of the corpus uteri xref: ICD10:C54 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213569 ! Rare cancer of the corpus uteri property_value: alternative:term "Endometrial adenoid cystic carcinoma" xsd:string [Term] id: Orphanet:213746 name: Transitional cell carcinoma of the corpus uteri xref: ICD10:C54 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213569 ! Rare cancer of the corpus uteri property_value: alternative:term "Endometrial transitional cell carcinoma" xsd:string [Term] id: Orphanet:213751 name: Malignant germ cell tumor of the corpus uteri xref: ICD10:C54 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213569 ! Rare cancer of the corpus uteri property_value: alternative:term "Germ cell cancer of the corpus uteri" xsd:string [Term] id: Orphanet:213761 name: Rare cancer of the cervix uteri xref: ICD10:C53 is_a: Orphanet:213564 ! Rare uterine cancer property_value: alternative:term "Rare cervical cancer" xsd:string property_value: alternative:term "Rare cervical malignant tumor" xsd:string property_value: alternative:term "Rare malignant tumor of the cervix uteri" xsd:string [Term] id: Orphanet:213767 name: Rare squamous cell carcinoma of the cervix uteri xref: ICD10:C53 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213761 ! Rare cancer of the cervix uteri property_value: alternative:term "Rare cervical squamous cell carcinoma" xsd:string [Term] id: Orphanet:213772 name: Adenocarcinoma of the cervix uteri xref: ICD10:C53 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213761 ! Rare cancer of the cervix uteri property_value: alternative:term "Cervical adenocarcinoma" xsd:string [Term] id: Orphanet:213777 name: Poorly differentiated endocrine carcinoma of the cervix uteri xref: ICD10:C53 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213761 ! Rare cancer of the cervix uteri property_value: alternative:term "Poorly differentiated endocrine cervical carcinoma" xsd:string [Term] id: Orphanet:213782 name: Malignant mixed epithelial and mesenchymal tumor of the cervix uteri xref: ICD10:C53 is_a: Orphanet:213761 ! Rare cancer of the cervix uteri property_value: alternative:term "Cervical malignant mixed epithelial and mesenchymal tumor" xsd:string property_value: alternative:term "Mixed epithelial and mesenchymal cancer of the cervix uteri" xsd:string [Term] id: Orphanet:213787 name: Malignant müllerian mixed tumor of the cervix uteri xref: ICD10:C53 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213782 ! Malignant mixed epithelial and mesenchymal tumor of the cervix uteri property_value: alternative:term "Cervical malignant müllerian mixed tumor" xsd:string [Term] id: Orphanet:213792 name: Adenosarcoma of the cervix uteri xref: ICD10:C53 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213782 ! Malignant mixed epithelial and mesenchymal tumor of the cervix uteri property_value: alternative:term "Cervical adenosarcoma" xsd:string [Term] id: Orphanet:213797 name: Sarcoma of the cervix uteri xref: ICD10:C53 is_a: Orphanet:213761 ! Rare cancer of the cervix uteri property_value: alternative:term "Cervical malignant mesenchymal tumor" xsd:string property_value: alternative:term "Cervical sarcoma" xsd:string property_value: alternative:term "Malignant mesenchymal tumor of the cervix uterus" xsd:string [Term] id: Orphanet:2138 name: 46,XX ovotesticular disorder of sex development xref: ICD10:Q56.0 xref: MESH:D050090 xref: OMIM:400045 xref: SNOMED CT:18978002 xref: UMLS:C2748895 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:325055 ! 46,XX disorder of gonadal development relationship: part_of Orphanet:98074 ! Gonadal dysgenesis of gynecological interest property_value: alternative:term "46,XX ovotesticular DSD" xsd:string property_value: alternative:term "True hermaphroditism" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD), formerly known as “true hermaphroditism” is characterized by the histologically confirmed presence of both testicular and ovarian tissue in an individual with a 46,XX karyotype." xsd:string [Term] id: Orphanet:213802 name: Rhabdomyosarcoma of the cervix uteri xref: ICD10:C53 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213797 ! Sarcoma of the cervix uteri property_value: alternative:term "Cervical rhabdomyosarcoma" xsd:string [Term] id: Orphanet:213807 name: Leiomyosarcoma of the cervix uteri xref: ICD10:C53 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213797 ! Sarcoma of the cervix uteri property_value: alternative:term "Cervical leiomyosarcoma" xsd:string [Term] id: Orphanet:213812 name: Malignant peripheral neuroectodermal tumor of the cervix uteri xref: ICD10:C53 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213797 ! Sarcoma of the cervix uteri property_value: alternative:term "Cervical malignant peripheral neuroectodermal tumor" xsd:string property_value: alternative:term "Cervical peripheral neuroectodermal cancer" xsd:string property_value: alternative:term "Peripheral neuroectodermal cancer of the cervix uteri" xsd:string [Term] id: Orphanet:213817 name: Papillary carcinoma of the cervix uteri xref: ICD10:C53 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213761 ! Rare cancer of the cervix uteri property_value: alternative:term "Cervical papillary carcinoma" xsd:string [Term] id: Orphanet:213823 name: Adenoid cystic carcinoma of the cervix uteri xref: ICD10:C53 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213761 ! Rare cancer of the cervix uteri property_value: alternative:term "Cervical adenoid cystic carcinoma" xsd:string [Term] id: Orphanet:213828 name: Adenoid basal carcinoma of the cervix uteri xref: ICD10:C53 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213761 ! Rare cancer of the cervix uteri property_value: alternative:term "Cervical adenoid basal carcinoma" xsd:string [Term] id: Orphanet:213833 name: Glassy cell carcinoma of the cervix uteri xref: ICD10:C53 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213761 ! Rare cancer of the cervix uteri [Term] id: Orphanet:213837 name: Malignant germ cell tumor of the cervix uteri xref: ICD10:C53 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213761 ! Rare cancer of the cervix uteri property_value: alternative:term "Cervical germ cell cancer" xsd:string property_value: alternative:term "Cervical malignant germ cell tumor" xsd:string property_value: alternative:term "Germ cell cancer of the cervix uteri" xsd:string [Term] id: Orphanet:2139 name: Hernandez-Aguirre Negrete syndrome xref: ICD10:Q87.0 xref: MESH:C538112 xref: UMLS:C2931736 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Intellectual deficit - epilepsy - bulbous nose" xsd:string [Term] id: Orphanet:214 name: Cystinuria xref: ICD10:E72.0 xref: MEDDRA:10011778 xref: MESH:D003555 xref: OMIM:220100 xref: SNOMED CT:25646005 xref: SNOMED CT:85020001 xref: UMLS:C0010691 xref: UMLS:C0268646 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:183592 ! Genetic renal tubular disease relationship: part_of Orphanet:79166 ! Disorder of amino acid absorption and transport relationship: part_of Orphanet:93603 ! Rare renal tubular disease property_value: alternative:term "Cystinuria - lysinuria" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones." xsd:string [Term] id: Orphanet:2140 name: Congenital diaphragmatic hernia xref: ICD10:Q79.0 xref: MEDDRA:10010439 xref: MESH:C538080 xref: OMIM:142340 xref: OMIM:222400 xref: OMIM:306950 xref: OMIM:610187 xref: SNOMED CT:17190001 xref: UMLS:C0235833 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101944 ! Rare pulmonary disease relationship: part_of Orphanet:108977 ! Nonsyndromic diaphragmatic or abdominal wall malformation relationship: part_of Orphanet:180776 ! Nonsyndromic diaphragmatic or thoracic malformation property_value: alternative:term "CDH" xsd:string property_value: alternative:term "Diaphragmatic agenesia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality." xsd:string [Term] id: Orphanet:2141 name: Diaphragmatic defect - limb deficiency - skull defect xref: ICD10:Q87.8 xref: OMIM:601163 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108979 ! Syndromic diaphragmatic or abdominal wall malformation relationship: part_of Orphanet:180779 ! Syndromic diaphragmatic or thoracic malformation relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Froster-Huch syndrome" xsd:string [Term] id: Orphanet:2143 name: Donnai-Barrow syndrome xref: ICD10:Q87.8 xref: MESH:C536390 xref: OMIM:222448 xref: UMLS:C1857277 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:108979 ! Syndromic diaphragmatic or abdominal wall malformation relationship: part_of Orphanet:180779 ! Syndromic diaphragmatic or thoracic malformation relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "DBS/FOAR syndrome" xsd:string property_value: alternative:term "Diaphragmatic hernia-exomphalos-hypertelorism syndrome" xsd:string property_value: alternative:term "Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome" xsd:string property_value: alternative:term "Facio-oculo-acoustico-renal syndrome" xsd:string property_value: alternative:term "FOAR syndrome" xsd:string property_value: alternative:term "Holmes-Schepens syndrome" xsd:string property_value: alternative:term "Syndrome of ocular and facial anomalies, telecanthus and deafness" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual deficit. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common (see these terms)." xsd:string [Term] id: Orphanet:2145 name: Craniosynostosis, Herrmann-Opitz type xref: ICD10:Q75.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis [Term] id: Orphanet:2148 name: Lissencephaly type 1 due to doublecortin gene mutation xref: ICD10:Q04.3 xref: OMIM:300067 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102009 ! Classic lissencephaly relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "X-linked lissencephaly type 1" xsd:string [Term] id: Orphanet:2149 name: Nodular neuronal heterotopia xref: ICD10:Q04.8 xref: OMIM:300049 xref: OMIM:608097 xref: OMIM:608098 xref: OMIM:612881 xref: OMIM:615544 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:163209 ! Nonsyndromic cerebral malformation due to abnormal neuronal migration relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:215 name: Congenital stationary night blindness xref: ICD10:H53.6 xref: MESH:C536122 xref: OMIM:163500 xref: OMIM:257270 xref: OMIM:300071 xref: OMIM:310500 xref: OMIM:610427 xref: OMIM:610444 xref: OMIM:610445 xref: OMIM:613216 xref: OMIM:613830 xref: OMIM:614565 xref: OMIM:615058 xref: SNOMED CT:232061009 xref: UMLS:C0339535 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98662 ! Unclassified familial retinal dystrophy property_value: alternative:term "Congenital essential nyctalopia" xsd:string [Term] id: Orphanet:2150 name: Hirschsprung disease - type D brachydactyly xref: ICD10:Q43.1 xref: MESH:C538319 xref: OMIM:306980 xref: UMLS:C1844017 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108969 ! Syndromic intestinal malformation relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit [Term] id: Orphanet:2151 name: Hirschsprung disease - ganglioneuroblastoma xref: ICD10:Q43.1 xref: MESH:C538119 xref: UMLS:C2751683 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:108969 ! Syndromic intestinal malformation relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation [Term] id: Orphanet:2152 name: Mowat-Wilson syndrome xref: ICD10:Q43.1 xref: MESH:C536990 xref: OMIM:235730 xref: UMLS:C1856113 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:108969 ! Syndromic intestinal malformation relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Hirschsprung disease - intellectual deficit" xsd:string [Term] id: Orphanet:2153 name: Hirschsprung disease - nail hypoplasia - dysmorphism xref: ICD10:Q43.1 xref: OMIM:235760 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108969 ! Syndromic intestinal malformation relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation property_value: alternative:term "Al Gazali-Donnai-Muller syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung's disease (see this term), hypoplastic nails and minor dysmorphic features." xsd:string [Term] id: Orphanet:2155 name: Hirschsprung disease - deafness - polydactyly xref: ICD10:Q43.1 xref: OMIM:235740 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108969 ! Syndromic intestinal malformation relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Santos-Mateus-Leal syndrome" xsd:string [Term] id: Orphanet:2156 name: Hirsutism - skeletal dysplasia - intellectual deficit xref: ICD10:Q87.5 xref: OMIM:142625 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Wiedemann-Oldigs-Oppermann syndrome" xsd:string [Term] id: Orphanet:2157 name: Histidinemia xref: ICD10:E70.8 xref: MESH:C538320 xref: OMIM:235800 xref: SNOMED CT:124628005 xref: SNOMED CT:410058007 xref: UMLS:C0220992 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:79181 ! Disorder of histidine metabolism property_value: alternative:term "Histidase deficiency" xsd:string property_value: alternative:term "Histidinuria" xsd:string [Term] id: Orphanet:216 name: Neuronal ceroid lipofuscinosis xref: ICD10:E75.4 xref: MESH:D009472 xref: SNOMED CT:42012007 xref: UMLS:C0027877 is_a: Orphanet:182070 ! Rare neurodegenerative disease is_a: Orphanet:183500 ! Genetic neurodegenerative disease is_a: Orphanet:225681 ! Lysosomal disease with epilepsy is_a: Orphanet:68366 ! Lysosomal disease is_a: Orphanet:68385 ! Neurometabolic disease is_a: Orphanet:98666 ! Unclassified primitive or secondary maculopathy is_a: Orphanet:98713 ! Metabolic disease with pigmentary retinitis relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 property_value: alternative:term "NCL" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina." xsd:string [Term] id: Orphanet:2162 name: Holoprosencephaly xref: ICD10:Q04.2 xref: MEDDRA:10056304 xref: MESH:D016142 xref: OMIM:142945 xref: OMIM:142946 xref: OMIM:147250 xref: OMIM:157170 xref: OMIM:236100 xref: OMIM:605934 xref: OMIM:609408 xref: OMIM:609637 xref: OMIM:610828 xref: OMIM:610829 xref: OMIM:612530 xref: OMIM:614226 xref: SNOMED CT:30915001 xref: UMLS:C0079541 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:166478 ! Cerebral malformation with epilepsy relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:268926 ! Midline cerebral malformation relationship: part_of Orphanet:95495 ! Disease associated with nonacquired combined pituitary hormone deficiency property_value: alternative:term "HPE" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity." xsd:string [Term] id: Orphanet:2163 name: Holoprosencephaly - craniosynostosis xref: ICD10:Q04.2 xref: ICD10:Q75.0 xref: OMIM:601370 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature property_value: alternative:term "Camero-Lituania-Cohen syndrome" xsd:string property_value: alternative:term "Genoa syndrome" xsd:string [Term] id: Orphanet:216445 name: Prelingual nonsyndromic genetic deafness is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:87884 ! Nonsyndromic genetic deafness property_value: alternative:term "Isolated prelingual genetic deafness" xsd:string [Term] id: Orphanet:216452 name: Postlingual nonsyndromic genetic deafness is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:87884 ! Nonsyndromic genetic deafness property_value: alternative:term "Isolated postlingual genetic deafness" xsd:string [Term] id: Orphanet:2165 name: Holoprosencephaly - caudal dysgenesis xref: ICD10:Q04.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature [Term] id: Orphanet:2166 name: Holoprosencephaly - postaxial polydactyly xref: ICD10:Q87.8 xref: OMIM:264480 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Pseudo-trisomy 13 syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term)." xsd:string [Term] id: Orphanet:216675 name: Transposition of the great arteries xref: ICD10:Q20.3 xref: ICD10:Q20.5 is_a: Orphanet:98717 ! Transposition of the great arteries and conotruncal cardiac anomaly property_value: alternative:term "Complete transposition" xsd:string property_value: alternative:term "TGA" xsd:string property_value: alternative:term "TGV" xsd:string property_value: alternative:term "Transposition of the great vessels" xsd:string [Term] id: Orphanet:216694 name: Congenitally corrected transposition of the great arteries xref: ICD10:Q20.5 xref: MEDDRA:10011120 xref: MESH:C535426 xref: SNOMED CT:83799000 xref: UMLS:C0344616 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:216675 ! Transposition of the great arteries property_value: alternative:term "Congenitally corrected transposition of the great vessels" xsd:string property_value: alternative:term "Discordant ventriculoarterial and atrioventricular connections" xsd:string property_value: alternative:term "Double discordance" xsd:string property_value: alternative:term "L-transposition of the great arteries" xsd:string property_value: alternative:term "Levo-transposition of the great arteries" xsd:string property_value: alternative:term "Ventricular inversion" xsd:string property_value: alternative:term "Ventriculoarterial and atrioventricular discordance" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations." xsd:string [Term] id: Orphanet:2167 name: Holzgreve-Wagner-Rehder syndrome xref: ICD10:Q87.8 xref: MESH:C535327 xref: OMIM:236110 xref: UMLS:C1856095 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit [Term] id: Orphanet:216718 name: Isolated congenitally uncorrected transposition of the great arteries xref: ICD10:Q20.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:860 ! Congenitally uncorrected transposition of the great arteries property_value: alternative:term "Isolated congenitally uncorrected transposition of the great vessels" xsd:string [Term] id: Orphanet:216729 name: Congenitally uncorrected transposition of the great arteries with cardiac malformation xref: ICD10:Q20.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:860 ! Congenitally uncorrected transposition of the great arteries property_value: alternative:term "Congenitally uncorrected transposition of the great vessels with cardiac malformation" xsd:string property_value: alternative:term "TGA with cardiac malformation" xsd:string [Term] id: Orphanet:216796 name: Osteogenesis imperfecta type 1 xref: ICD10:Q78.0 xref: OMIM:166200 xref: OMIM:166230 xref: SNOMED CT:385482004 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:666 ! Osteogenesis imperfecta property_value: alternative:term "Adair-Dighton syndrome" xsd:string property_value: alternative:term "Mild osteogenesis imperfecta" xsd:string property_value: alternative:term "Non-deforming osteogenesis imperfecta" xsd:string property_value: alternative:term "OI type 1" xsd:string property_value: alternative:term "Van der Hoeve syndrome" xsd:string [Term] id: Orphanet:2168 name: Homocarnosinosis xref: ICD10:E72.8 xref: MESH:C535328 xref: OMIM:236130 xref: SNOMED CT:274616003 xref: SNOMED CT:61764000 xref: UMLS:C0268632 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79187 ! Disorder of peptide metabolism property_value: alternative:term "Homocarnosinase deficiency" xsd:string [Term] id: Orphanet:216804 name: Osteogenesis imperfecta type 2 xref: ICD10:Q78.0 xref: OMIM:166210 xref: OMIM:259440 xref: OMIM:610682 xref: OMIM:610915 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:666 ! Osteogenesis imperfecta property_value: alternative:term "Lethal osteogenesis imperfecta" xsd:string property_value: alternative:term "OI type 2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera." xsd:string [Term] id: Orphanet:216812 name: Osteogenesis imperfecta type 3 xref: ICD10:Q78.0 xref: MESH:C536044 xref: OMIM:259420 xref: OMIM:259440 xref: OMIM:610682 xref: OMIM:610915 xref: OMIM:613848 xref: OMIM:613982 xref: OMIM:614856 xref: OMIM:615220 xref: SNOMED CT:385483009 xref: UMLS:C0268362 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:167762 ! Rare disease with dentinogenesis imperfecta relationship: part_of Orphanet:666 ! Osteogenesis imperfecta property_value: alternative:term "OI type 3" xsd:string property_value: alternative:term "Progressive deforming osteogenesis imperfecta" xsd:string property_value: alternative:term "Severe osteogenesis imperfecta" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term)." xsd:string [Term] id: Orphanet:216820 name: Osteogenesis imperfecta type 4 xref: ICD10:Q78.0 xref: MESH:C536045 xref: OMIM:166220 xref: OMIM:259440 xref: OMIM:610682 xref: OMIM:613849 xref: OMIM:615066 xref: OMIM:615220 xref: SNOMED CT:205497004 xref: UMLS:C0268363 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:167762 ! Rare disease with dentinogenesis imperfecta relationship: part_of Orphanet:666 ! Osteogenesis imperfecta property_value: alternative:term "OI type 4" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term)." xsd:string [Term] id: Orphanet:216828 name: Osteogenesis imperfecta type 5 xref: ICD10:Q78.0 xref: MESH:C536046 xref: OMIM:610967 xref: OMIM:610968 xref: UMLS:C2931093 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:666 ! Osteogenesis imperfecta property_value: alternative:term "OI type 5" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term)." xsd:string [Term] id: Orphanet:216866 name: Classic pantothenate kinase-associated neurodegeneration xref: ICD10:G23.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:157850 ! Pantothenate kinase-associated neurodegeneration property_value: alternative:term "NBIA1, classic form" xsd:string property_value: alternative:term "Neurodegeneration with brain iron accumulation type 1, classic form" xsd:string property_value: alternative:term "PKAN, classic form" xsd:string [Term] id: Orphanet:216873 name: Atypical pantothenate kinase-associated neurodegeneration xref: ICD10:G23.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:157850 ! Pantothenate kinase-associated neurodegeneration property_value: alternative:term "NBIA1, atypical form" xsd:string property_value: alternative:term "Neurodegeneration with brain iron accumulation type 1, atypical form" xsd:string property_value: alternative:term "PKAN, atypical form" xsd:string [Term] id: Orphanet:2169 name: Methylcobalamin deficiency type cblE xref: ICD10:E72.1 xref: OMIM:236270 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:622 ! Homocystinuria without methylmalonic aciduria relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "Functional methionine synthase deficiency type cblE" xsd:string [Term] id: Orphanet:216972 name: Niemann-Pick disease type C, severe perinatal form xref: ICD10:E75.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:646 ! Niemann-Pick disease type C [Term] id: Orphanet:216975 name: Niemann-Pick disease type C, severe early infantile neurologic onset xref: ICD10:E75.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:646 ! Niemann-Pick disease type C [Term] id: Orphanet:216978 name: Niemann-Pick disease type C, late infantile neurologic onset xref: ICD10:E75.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:646 ! Niemann-Pick disease type C [Term] id: Orphanet:216981 name: Niemann-Pick disease type C, juvenile neurologic onset xref: ICD10:E75.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:646 ! Niemann-Pick disease type C property_value: alternative:term "Niemann-Pick disease type C, classic form" xsd:string [Term] id: Orphanet:216986 name: Niemann-Pick disease type C, adult neurologic onset xref: ICD10:E75.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:646 ! Niemann-Pick disease type C [Term] id: Orphanet:216989 name: Autosomal dominant dystrophic epidermolysis bullosa, Pasini type is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_231568 with label: Generalized dominant dystrophic epidermolysis bullosa" xsd:string [Term] id: Orphanet:217 name: Isolated Dandy-Walker malformation xref: ICD10:Q03.1 xref: OMIM:220200 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:269560 ! Genetic cerebellar malformation relationship: part_of Orphanet:98514 ! Malformation of the cerebellar vermis relationship: part_of Orphanet:98520 ! Cystic malformation of the posterior fossa [Term] id: Orphanet:2170 name: Methylcobalamin deficiency type cblG xref: ICD10:E72.1 xref: OMIM:250940 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183589 ! Genetic thrombotic microangiopathy relationship: part_of Orphanet:622 ! Homocystinuria without methylmalonic aciduria relationship: part_of Orphanet:93573 ! Thrombotic microangiopathy property_value: alternative:term "Functional methionine synthase deficiency type cblG" xsd:string [Term] id: Orphanet:217008 name: Bockenheimer syndrome xref: ICD10:Q27.4 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:211252 ! Venous malformation relationship: part_of Orphanet:79379 ! Skin vascular disease property_value: alternative:term "Genuine diffuse phlebectasia" xsd:string [Term] id: Orphanet:217012 name: Spinocerebellar ataxia type 31 xref: ICD10:G11 xref: OMIM:117210 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:94148 ! Autosomal dominant cerebellar ataxia type 3 property_value: alternative:term "SCA31" xsd:string [Term] id: Orphanet:217017 name: Zechi-Ceide syndrome xref: ICD10:Q87.8 xref: OMIM:612916 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Occipital atretic cephalocele - unusual facies - large feet" xsd:string [Term] id: Orphanet:217023 name: Atypical hemolytic uremic syndrome with thrombomodulin anomaly xref: ICD10:D58.8 xref: OMIM:612926 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2134 ! Atypical hemolytic uremic syndrome property_value: alternative:term "aHUS with thrombomodulin anomaly" xsd:string property_value: alternative:term "Atypical HUS with thrombomodulin anomaly" xsd:string property_value: alternative:term "D-HUS with thrombomodulin anomaly" xsd:string property_value: alternative:term "Hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly" xsd:string [Term] id: Orphanet:217026 name: Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type xref: ICD10:Q87.8 xref: OMIM:612946 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139021 ! Malformation syndrome with short stature relationship: part_of Orphanet:156532 ! Rare syndrome with cardiac malformations relationship: part_of Orphanet:183570 ! Genetic malformation syndrome with short stature relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Hadziselimovic syndrome" xsd:string [Term] id: Orphanet:217031 name: Obesity due to MC3R deficiency xref: ICD10:E66.8 xref: OMIM:602025 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98267 ! Nonsyndromic obesity [Term] id: Orphanet:217034 name: Male infertility with normal virilization due to meiosis defect xref: OMIM:108420 xref: OMIM:258150 xref: OMIM:270960 xref: OMIM:309120 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: part_of Orphanet:156619 ! Rare genetic urogenital disease relationship: part_of Orphanet:98048 ! Rare male infertility property_value: alternative:term "Azoospermia due to maturation arrest" xsd:string property_value: alternative:term "Azoospermia due to meiosis defect" xsd:string property_value: alternative:term "Male infertility with normal virilization due to maturation arrest" xsd:string [Term] id: Orphanet:217046 name: Autosomal recessive childhood-onset cortical cataract xref: ICD10:H26.0 xref: OMIM:611391 is_a: Orphanet:217052 ! Early-onset non-syndromic cataract relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Childhood-onset cortical cataract is an autosomal recessive cataract that develops during childhood or adolescence with increasing opacity of the lens not present at birth, potentially leading to blindness." xsd:string [Term] id: Orphanet:217049 name: Rare non-syndromic cataract is_a: Orphanet:98640 ! Rare cataract [Term] id: Orphanet:217052 name: Early-onset non-syndromic cataract xref: ICD10:H26.0 xref: OMIM:115660 xref: OMIM:115700 xref: OMIM:601547 xref: OMIM:610202 xref: OMIM:611391 xref: OMIM:614422 xref: OMIM:615274 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:217049 ! Rare non-syndromic cataract [Term] id: Orphanet:217055 name: Autosomal recessive intermediate Charcot-Marie-Tooth disease type A xref: ICD10:G60.0 xref: OMIM:608340 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:268337 ! Autosomal recessive intermediate Charcot-Marie-Tooth disease property_value: alternative:term "RI-CMT type A" xsd:string [Term] id: Orphanet:217059 name: Isolated congenital digital clubbing xref: ICD10:Q68.1 xref: OMIM:119900 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:294949 ! Joint formation defects relationship: part_of Orphanet:79369 ! Isolated nail anomaly property_value: alternative:term "Isolated congenital acropachy" xsd:string property_value: alternative:term "Isolated congenital nail clubbing" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality." xsd:string [Term] id: Orphanet:217064 name: 5-fluorouracil poisoning xref: ICD10:T45.1 is_a: Orphanet:377793 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! particular clinical situation in a disease or syndrome relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:306640 ! Rare intoxication due to medical products property_value: alternative:term "5-fluorouracil intoxication" xsd:string [Term] id: Orphanet:217071 name: Non-familial renal cell carcinoma xref: ICD10:C64 xref: MEDDRA:10067946 xref: MESH:D002292 xref: SNOMED CT:41607009 xref: UMLS:C0007134 is_a: Orphanet:93619 ! Rare renal tumor relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 property_value: alternative:term "Non-familial RCC" xsd:string [Term] id: Orphanet:217074 name: Pancreatic carcinoma xref: ICD10:C25 xref: MEDDRA:10033604 xref: MEDDRA:10033609 xref: MESH:D010190 xref: SNOMED CT:372142002 xref: UMLS:C0235974 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:180824 ! Pancreatic tumor property_value: alternative:term "Pancreatic cancer" xsd:string [Term] id: Orphanet:217085 name: Mucopolysaccharidosis type 2, severe form xref: ICD10:E76.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:580 ! Mucopolysaccharidosis type 2 property_value: alternative:term "Hunter syndrome type A" xsd:string property_value: alternative:term "Iduronate 2-sulfatase deficiency type A" xsd:string property_value: alternative:term "Mucopolysaccharidosis type 2A" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade." xsd:string [Term] id: Orphanet:217093 name: Mucopolysaccharidosis type 2, attenuated form xref: ICD10:E76.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:580 ! Mucopolysaccharidosis type 2 property_value: alternative:term "Hunter syndrome type B" xsd:string property_value: alternative:term "Iduronate 2-sulfatase deficiency type B" xsd:string property_value: alternative:term "Mucopolysaccharidosis type 2B" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline." xsd:string [Term] id: Orphanet:217124 name: peptidylprolyl isomerase B (cyclophilin B) xref: ENSEMBL:ENSG00000166794 xref: GENATLAS:PPIB xref: HGNC:9255 xref: OMIM:123841 xref: REACTOME:P23284 xref: UNIPROTKB/SWISSPROT:P23284 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:216804 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 2 relationship: Orphanet:317343 Orphanet:216812 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 3 relationship: Orphanet:317343 Orphanet:216820 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 4 property_value: alternative:term "CYPB" xsd:string property_value: alternative:term "OI9" xsd:string property_value: symbol "PPIB" xsd:string [Term] id: Orphanet:2172 name: Microcephaly - glomerulonephritis - marfanoid habitus xref: ICD10:Q87.8 xref: OMIM:248760 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:217253 name: Limbic encephalitis with NMDA receptor antibodies is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163895 ! Paraneoplastic limbic encephalitis relationship: part_of Orphanet:163918 ! Non-paraneoplastic limbic encephalitis property_value: alternative:term "Limbic encephalitis with N-methyl-D-aspartate receptor antibodies" xsd:string [Term] id: Orphanet:217260 name: Progressive multifocal leukoencephalopathy xref: MEDDRA:10036807 xref: MESH:D007968 xref: SNOMED CT:22255007 xref: UMLS:C0023524 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98252 ! Infectious encephalitis property_value: alternative:term "Progressive multifocal leukoencephalitis" xsd:string [Term] id: Orphanet:217266 name: BNAR syndrome xref: ICD10:Q87.8 xref: OMIM:608980 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:156246 ! Nose and cavum anomaly relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:96333 ! Rare otorhinolaryngological malformation property_value: alternative:term "Bifid nose with or without anorectal and renal anomalies" xsd:string [Term] id: Orphanet:217315 name: Cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_357225 with label: Primary non-essential cutis verticis gyrata" xsd:string [Term] id: Orphanet:217330 name: Hyperuricemia - anemia - renal failure xref: OMIM:613092 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183592 ! Genetic renal tubular disease relationship: part_of Orphanet:93603 ! Rare renal tubular disease property_value: alternative:term "Familial juvenile hyperuricemic nephropathy type 2" xsd:string property_value: alternative:term "FJHN type 2" xsd:string property_value: alternative:term "REN-associated familial juvenile hyperuricemic nephropathy" xsd:string property_value: alternative:term "REN-associated FJHN" xsd:string property_value: alternative:term "REN-associated kidney disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to disregulation of the renin-angiotensin system (RAS)." xsd:string [Term] id: Orphanet:217335 name: MACS syndrome xref: ICD10:Q82.8 xref: OMIM:613075 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:209 ! Cutis laxa property_value: alternative:term "Macrocephaly - alopecia - cutis laxa - scoliosis" xsd:string property_value: alternative:term "RIN2 deficiency" xsd:string property_value: alternative:term "RIN2 syndrome" xsd:string [Term] id: Orphanet:217340 name: 17q21.31 microduplication syndrome xref: ICD10:Q92.3 xref: OMIM:613533 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:262968 ! Partial duplication of the long arm of chromosome 17 property_value: alternative:term "Dup(17)(q21.31)" xsd:string property_value: alternative:term "Trisomy 17q21.31" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent." xsd:string [Term] id: Orphanet:217346 name: 19q13.11 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:613026 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:262155 ! Partial deletion of the long arm of chromosome 19 property_value: alternative:term "Del(19)(q13.11)" xsd:string property_value: alternative:term "Monosomy 19q13.11" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails." xsd:string [Term] id: Orphanet:217371 name: Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins xref: ICD10:K72.0 xref: OMIM:613070 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: alternative:term "Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." xsd:string [Term] id: Orphanet:217377 name: Microduplication Xp11.22-p11.23 syndrome xref: ICD10:Q99.8 xref: OMIM:300801 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:263775 ! Partial duplication of the short arm of chromosome X property_value: alternative:term "Trisomy Xp11.22-p11.23" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females." xsd:string [Term] id: Orphanet:217382 name: Neurodegenerative syndrome due to cerebral folate transport deficiency xref: ICD10:G31.8 xref: OMIM:613068 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:285657 ! Disorder of folate metabolism and transport [Term] id: Orphanet:217385 name: 17p13.3 microduplication syndrome xref: ICD10:Q92.3 xref: OMIM:613215 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:262803 ! Partial duplication of the short arm of chromosome 17 property_value: alternative:term "17p13.3 duplication syndrome" xsd:string property_value: alternative:term "Dup(17)(p13.3)" xsd:string property_value: alternative:term "Trisomy 17p13.3" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features." xsd:string [Term] id: Orphanet:217390 name: Combined immunodeficiency due to DOCK8 deficiency xref: ICD10:D81.1 xref: OMIM:243700 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency relationship: part_of Orphanet:169446 ! Autosomal recessive hyper-IgE syndrome property_value: alternative:term "CID due to DOCK8 deficiency" xsd:string property_value: alternative:term "Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency" xsd:string property_value: alternative:term "DOCK8 immunodeficiency syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE)." xsd:string [Term] id: Orphanet:217396 name: Progressive demyelinating neuropathy with bilateral striatal necrosis xref: OMIM:613710 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98497 ! Genetic peripheral neuropathy [Term] id: Orphanet:217399 name: Congenital insensitivity to pain with hyperhidrosis xref: ICD10:G90.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:140471 ! Hereditary sensory and autonomic neuropathy property_value: alternative:term "Congenital absence of pain with hyperhidrosis" xsd:string property_value: alternative:term "Congenital analgesia with hyperhidrosis" xsd:string property_value: alternative:term "Congenital indifference to pain with hyperhidrosis" xsd:string [Term] id: Orphanet:2174 name: Hunter-Carpenter-McDonald syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_35069 with label: Infantile neuroaxonal dystrophy" xsd:string [Term] id: Orphanet:217407 name: Hereditary hypotrichosis with recurrent skin vesicles xref: OMIM:613102 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79364 ! Alopecia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid." xsd:string [Term] id: Orphanet:217410 name: Circumscribed lymphatic malformation xref: ICD10:D18.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:79489 ! Macrocystic lymphatic malformation property_value: alternative:term "Circumscribed lymphangioma" xsd:string [Term] id: Orphanet:217454 name: Rare hereditary thrombophilia xref: ICD10:D68.5 is_a: Orphanet:248361 ! Rare thrombotic disorder due to a constitutional coagulation factors defect [Term] id: Orphanet:217467 name: Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency xref: ICD10:D68.5 xref: OMIM:613116 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:217454 ! Rare hereditary thrombophilia property_value: alternative:term "Hereditary thrombophilia due to congenital HRG deficiency" xsd:string [Term] id: Orphanet:217557 name: Pulmonary interstitial glycogenosis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:264694 ! Interstitial lung disease specific to infancy property_value: alternative:term "Infantile cellular interstitial pneumonitis" xsd:string property_value: alternative:term "PIG" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD, see this term)." xsd:string [Term] id: Orphanet:217560 name: Neuroendocrine cell hyperplasia of infancy is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:264694 ! Interstitial lung disease specific to infancy property_value: alternative:term "NCHI" xsd:string property_value: alternative:term "NEHI" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD, see this term) characterized by tachypnea without respiratory failure." xsd:string [Term] id: Orphanet:217563 name: Neonatal acute respiratory distress with surfactant metabolism deficiency xref: OMIM:265120 xref: OMIM:610921 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:100049 ! Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies [Term] id: Orphanet:217566 name: Chronic respiratory distress with surfactant metabolism deficiency xref: OMIM:610913 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:264930 ! Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder relationship: part_of Orphanet:264992 ! Genetic interstitial lung disease [Term] id: Orphanet:217569 name: Hypertrophic cardiomyopathy xref: MEDDRA:10020871 xref: MESH:D002312 xref: SNOMED CT:233873004 xref: SNOMED CT:45227007 xref: UMLS:C0007194 is_a: Orphanet:167848 ! Cardiomyopathy property_value: alternative:term "Hypertrophic subaortic stenosis" xsd:string property_value: alternative:term "Obstructive hypertrophic cardiomyopathy" xsd:string [Term] id: Orphanet:217572 name: Glycogen storage disease with hypertrophic cardiomyopathy xref: ICD10:E74.0 is_a: Orphanet:99739 ! Familial hypertrophic cardiomyopathy property_value: alternative:term "Glycogenosis with hypertrophic cardiomyopathy" xsd:string property_value: alternative:term "GSD with hypertrophic cardiomyopathy" xsd:string [Term] id: Orphanet:217581 name: Lysosomal disease with hypertrophic cardiomyopathy is_a: Orphanet:99739 ! Familial hypertrophic cardiomyopathy [Term] id: Orphanet:217587 name: Mitochondrial disease with hypertrophic cardiomyopathy is_a: Orphanet:99739 ! Familial hypertrophic cardiomyopathy [Term] id: Orphanet:217591 name: Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy is_a: Orphanet:99739 ! Familial hypertrophic cardiomyopathy [Term] id: Orphanet:217595 name: Syndrome associated with hypertrophic cardiomyopathy is_a: Orphanet:99739 ! Familial hypertrophic cardiomyopathy [Term] id: Orphanet:217598 name: Non-familial hypertrophic cardiomyopathy is_a: Orphanet:217569 ! Hypertrophic cardiomyopathy [Term] id: Orphanet:2176 name: Infantile systemic hyalinosis xref: OMIM:236490 xref: SNOMED CT:238867003 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:93449 ! Primary osteolysis [Term] id: Orphanet:217601 name: Hypertrophic cardiomyopathy due to intensive athletic training xref: ICD10:I42.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:217598 ! Non-familial hypertrophic cardiomyopathy [Term] id: Orphanet:217604 name: Dilated cardiomyopathy xref: ICD10:I42.0 xref: MEDDRA:10056370 xref: MESH:D002311 xref: SNOMED CT:195021004 xref: SNOMED CT:399020009 xref: UMLS:C0007193 is_a: Orphanet:167848 ! Cardiomyopathy [Term] id: Orphanet:217607 name: Familial dilated cardiomyopathy xref: ICD10:I42.0 xref: MESH:C536231 xref: SNOMED CT:52029003 xref: UMLS:C0340427 is_a: Orphanet:217604 ! Dilated cardiomyopathy is_a: Orphanet:98054 ! Rare genetic cardiac disease [Term] id: Orphanet:217610 name: Neuromuscular disease with dilated cardiomyopathy is_a: Orphanet:217607 ! Familial dilated cardiomyopathy [Term] id: Orphanet:217613 name: Mitochondrial disease with dilated cardiomyopathy is_a: Orphanet:217607 ! Familial dilated cardiomyopathy [Term] id: Orphanet:217616 name: Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy is_a: Orphanet:217607 ! Familial dilated cardiomyopathy [Term] id: Orphanet:217619 name: Syndrome associated with dilated cardiomyopathy is_a: Orphanet:217607 ! Familial dilated cardiomyopathy [Term] id: Orphanet:217622 name: Sensorineural deafness with dilated cardiomyopathy xref: OMIM:605362 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:217619 ! Syndrome associated with dilated cardiomyopathy property_value: alternative:term "Neurosensory deafness with dilated cardiomyopathy" xsd:string property_value: alternative:term "Neurosensory hearing loss with dilated cardiomyopathy" xsd:string property_value: alternative:term "Sensorineural hearing loss with dilated cardiomyopathy" xsd:string [Term] id: Orphanet:217629 name: Non-familial dilated cardiomyopathy is_a: Orphanet:217604 ! Dilated cardiomyopathy [Term] id: Orphanet:217632 name: Restrictive cardiomyopathy xref: MEDDRA:10038748 xref: MESH:D002313 xref: SNOMED CT:415295002 xref: SNOMED CT:90828009 xref: UMLS:C0007196 is_a: Orphanet:167848 ! Cardiomyopathy [Term] id: Orphanet:217635 name: Familial restrictive cardiomyopathy xref: SNOMED CT:233878008 xref: UMLS:C0340429 is_a: Orphanet:217632 ! Restrictive cardiomyopathy is_a: Orphanet:98054 ! Rare genetic cardiac disease [Term] id: Orphanet:217638 name: Lysosomal disease with restrictive cardiomyopathy is_a: Orphanet:217635 ! Familial restrictive cardiomyopathy [Term] id: Orphanet:217656 name: Familial isolated arrhythmogenic right ventricular dysplasia xref: ICD10:I42.8 xref: OMIM:107970 xref: OMIM:600996 xref: OMIM:602086 xref: OMIM:602087 xref: OMIM:604400 xref: OMIM:604401 xref: OMIM:607450 xref: OMIM:609040 xref: OMIM:610193 xref: OMIM:610476 xref: OMIM:611528 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:247 ! Arrhythmogenic right ventricular dysplasia property_value: alternative:term "Familial isolated arrhythmogenic right ventricular cardiomyopathy" xsd:string property_value: alternative:term "Familial isolated arrhythmogenic ventricular cardiomyopathy" xsd:string property_value: alternative:term "Familial isolated arrhythmogenic ventricular dysplasia" xsd:string property_value: alternative:term "Familial isolated ARVC" xsd:string property_value: alternative:term "Familial isolated ARVD" xsd:string [Term] id: Orphanet:217678 name: Unclassified cardiomyopathy is_a: Orphanet:167848 ! Cardiomyopathy [Term] id: Orphanet:2177 name: Hydranencephaly xref: ICD10:Q04.3 xref: MESH:D006832 xref: SNOMED CT:30023002 xref: UMLS:C0020225 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:269190 ! Encephaloclastic disorder [Term] id: Orphanet:217720 name: Non-familial restrictive cardiomyopathy is_a: Orphanet:217632 ! Restrictive cardiomyopathy [Term] id: Orphanet:218 name: Darier disease xref: ICD10:Q82.8 xref: MEDDRA:10023369 xref: MESH:D007644 xref: OMIM:124200 xref: SNOMED CT:48611009 xref: UMLS:C0022595 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:79359 ! Other epidermis disorder relationship: part_of Orphanet:79360 ! Other genetic epidermal disease property_value: alternative:term "Darier-White disease" xsd:string property_value: alternative:term "Keratosis follicularis" xsd:string [Term] id: Orphanet:2180 name: Hydrocephalus - costovertebral dysplasia - Sprengel anomaly xref: ICD10:Q87.8 xref: OMIM:600991 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "Ferlini-Ragno-Calzolari syndrome" xsd:string property_value: alternative:term "Waaler-Aarskog syndrome" xsd:string [Term] id: Orphanet:218033 name: family with sequence similarity 134, member B xref: ENSEMBL:ENSG00000154153 xref: GENATLAS:FAM134B xref: HGNC:25964 xref: OMIM:613114 xref: UNIPROTKB/SWISSPROT:Q9H6L5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:970 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary sensory and autonomic neuropathy type 2 property_value: alternative:term "FLJ20152" xsd:string property_value: symbol "FAM134B" xsd:string [Term] id: Orphanet:218036 name: calcium activated nucleotidase 1 xref: ENSEMBL:ENSG00000171302 xref: GENATLAS:CANT1 xref: HGNC:19721 xref: OMIM:613165 xref: UNIPROTKB/SWISSPROT:Q8WVQ1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1425 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Desbuquois syndrome property_value: alternative:term "SCAN-1" xsd:string property_value: alternative:term "SHAPY" xsd:string property_value: alternative:term "Soluble Ca-Activated Nucleotidase, isozyme 1" xsd:string property_value: symbol "CANT1" xsd:string [Term] id: Orphanet:218040 name: RNA binding motif protein 20 xref: ENSEMBL:ENSG00000203867 xref: GENATLAS:RBM20 xref: HGNC:27424 xref: OMIM:613171 xref: UNIPROTKB/SWISSPROT:Q5T481 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy property_value: symbol "RBM20" xsd:string [Term] id: Orphanet:218045 name: dynein, axonemal, assembly factor 1 xref: ENSEMBL:ENSG00000154099 xref: GENATLAS:DNAAF1 xref: HGNC:30539 xref: OMIM:613190 xref: UNIPROTKB/SWISSPROT:Q8NEP3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia relationship: Orphanet:317345 Orphanet:842 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Testicular seminomatous germ cell tumor property_value: alternative:term "CILD13" xsd:string property_value: alternative:term "FLJ25330" xsd:string property_value: alternative:term "Leucine rich repeat containing 50" xsd:string property_value: alternative:term "LRRC50" xsd:string property_value: alternative:term "ODA7" xsd:string property_value: alternative:term "outer row dynein assembly 7 homolog (Chlamydomonas)" xsd:string property_value: symbol "DNAAF1" xsd:string [Term] id: Orphanet:218049 name: trafficking protein particle complex 9 xref: ENSEMBL:ENSG00000167632 xref: GENATLAS:TRAPPC9 xref: HGNC:30832 xref: OMIM:611966 xref: UNIPROTKB/SWISSPROT:Q96Q05 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352530 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intellectual deficit - obesity - brain malformations - facial dysmorphism relationship: Orphanet:317343 Orphanet:88616 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive nonsyndromic intellectual deficit property_value: alternative:term "IKBKBBP" xsd:string property_value: alternative:term "KIAA1882" xsd:string property_value: alternative:term "MRT13" xsd:string property_value: alternative:term "NIBP" xsd:string property_value: alternative:term "T1" xsd:string property_value: alternative:term "TRAPP 120 kDa subunit" xsd:string property_value: alternative:term "TRS120" xsd:string property_value: alternative:term "tularik gene 1" xsd:string property_value: symbol "TRAPPC9" xsd:string [Term] id: Orphanet:2181 name: Hydrocephaly - tall stature - joint laxity xref: OMIM:236660 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Daish-Hardman-Lamont syndrome" xsd:string [Term] id: Orphanet:2182 name: Hydrocephalus with stenosis of aqueduct of Sylvius xref: ICD10:Q03.0 xref: OMIM:307000 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:275543 ! L1 syndrome property_value: alternative:term "Bickers-Adams syndrome" xsd:string property_value: alternative:term "HSAS" xsd:string property_value: alternative:term "X-linked acqueductal stenosis" xsd:string property_value: alternative:term "X-linked HSAS" xsd:string property_value: alternative:term "X-linked hydrocephalus with stenosis of aqueduct of Sylvius" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hydrocephalus with stenosis of aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis." xsd:string [Term] id: Orphanet:2183 name: Hydrocephalus - obesity - hypogonadism is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181441 ! Non-hypogonadotropic hypogonadism relationship: part_of Orphanet:240371 ! Syndromic obesity property_value: alternative:term "Sengers-Hamel-Otten syndrome" xsd:string [Term] id: Orphanet:218358 name: syntrophin, alpha 1 xref: ENSEMBL:ENSG00000101400 xref: GENATLAS:SNTA1 xref: HGNC:11167 xref: OMIM:601017 xref: UNIPROTKB/SWISSPROT:Q13424 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101016 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Romano-Ward syndrome property_value: alternative:term "dystrophin-associated protein A1, 59kDa, acidic component" xsd:string property_value: alternative:term "LQT12" xsd:string property_value: alternative:term "pro-TGF-alpha cytoplasmic domain-interacting protein 1" xsd:string property_value: alternative:term "SNT1" xsd:string property_value: alternative:term "syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)" xsd:string property_value: alternative:term "Syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component)" xsd:string property_value: alternative:term "TACIP1" xsd:string property_value: symbol "SNTA1" xsd:string [Term] id: Orphanet:218376 name: major histocompatibility complex, class I, A xref: ENSEMBL:ENSG00000206503 xref: GENATLAS:HLA-A xref: HGNC:4931 xref: OMIM:142800 xref: REACTOME:P01891 xref: UNIPROTKB/SWISSPROT:P30443 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:179 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Chorioretinopathy, Birdshot type property_value: symbol "HLA-A" xsd:string [Term] id: Orphanet:218436 name: Rare cardiac rythm disease is_a: Orphanet:97929 ! Rare cardiac disease [Term] id: Orphanet:218439 name: Acquired cardiac rythm disease is_a: Orphanet:218436 ! Rare cardiac rythm disease [Term] id: Orphanet:2185 name: Congenital hydrocephalus xref: ICD10:Q03 xref: OMIM:236600 xref: OMIM:615219 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108989 ! Nonsyndromic central nervous system malformation relationship: part_of Orphanet:269550 ! Genetic nonsyndromic central nervous system malformation [Term] id: Orphanet:2186 name: Hydrocephalus - blue sclerae - nephropathy is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Daentl-Townsend-Siegel syndrome" xsd:string [Term] id: Orphanet:218672 name: glycerol-3-phosphate dehydrogenase 1-like xref: ENSEMBL:ENSG00000152642 xref: GENATLAS:GPD1L xref: HGNC:28956 xref: OMIM:611778 xref: REACTOME:Q8N335 xref: UNIPROTKB/SWISSPROT:Q8N335 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:130 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brugada syndrome property_value: alternative:term "KIAA0089" xsd:string property_value: symbol "GPD1L" xsd:string [Term] id: Orphanet:218675 name: sodium channel, voltage-gated, type III, beta subunit xref: ENSEMBL:ENSG00000166257 xref: GENATLAS:SCN3B xref: HGNC:20665 xref: OMIM:608214 xref: REACTOME:Q9NY72 xref: UNIPROTKB/SWISSPROT:Q9NY72 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:130 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brugada syndrome property_value: alternative:term "HSA243396" xsd:string property_value: alternative:term "Sodium channel, voltage-gated, type III, beta" xsd:string property_value: symbol "SCN3B" xsd:string [Term] id: Orphanet:2189 name: Hydrolethalus xref: ICD10:Q87.8 xref: MESH:C536079 xref: OMIM:236680 xref: OMIM:614120 xref: UMLS:C2931104 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature relationship: part_of Orphanet:269564 ! Genetic syndrome with a central nervous system malformation as major feature property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities." xsd:string [Term] id: Orphanet:219 name: Autosomal recessive limb-girdle muscular dystrophy type 2F xref: ICD10:G71.0 xref: OMIM:601287 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:102015 ! Autosomal recessive limb-girdle muscular dystrophy relationship: part_of Orphanet:207070 ! Qualitative or quantitative defects of delta-sarcoglycan relationship: part_of Orphanet:217610 ! Neuromuscular disease with dilated cardiomyopathy property_value: alternative:term "Delta-sarcoglycanopathy" xsd:string property_value: alternative:term "LGMD2F" xsd:string property_value: alternative:term "Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "#948;-sarcoglycan) and therefore belongs to a group of disorder named sarcoglycanopathy." xsd:string [Term] id: Orphanet:2190 name: Congenital hydronephrosis xref: ICD10:Q62.0 xref: MEDDRA:10050975 xref: SNOMED CT:16297002 xref: UMLS:C0266316 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:357506 ! Genetic nonsyndromic renal or urinary tract malformation relationship: part_of Orphanet:93546 ! Nonsyndromic renal or urinary tract malformation property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy." xsd:string [Term] id: Orphanet:2194 name: Anti-HLA hyperimmunization is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98004 ! Rare immune disease [Term] id: Orphanet:2195 name: Dicarboxylic aminoaciduria xref: ICD10:E72.0 xref: MESH:C536171 xref: OMIM:222730 xref: UMLS:C1857253 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:79166 ! Disorder of amino acid absorption and transport property_value: alternative:term "Glutamate-aspartate transport defect" xsd:string [Term] id: Orphanet:2196 name: Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement xref: OMIM:248190 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:306516 ! Familial primary hypomagnesemia with hypercalcuria relationship: part_of Orphanet:98665 ! Colobomatous and areolar dystrophy property_value: alternative:term "Hypercalciuria - bilateral macular coloboma" xsd:string property_value: alternative:term "Meier-Blumberg-Imahorn syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement (FHHNCOI) is a form offamilial primary hypomagnesemia with hypercalciuria (FHHNC, see this term) characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities." xsd:string [Term] id: Orphanet:2197 name: Idiopathic hypercalciuria xref: ICD10:E83.5 xref: OMIM:143870 xref: OMIM:607258 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:183592 ! Genetic renal tubular disease relationship: part_of Orphanet:93603 ! Rare renal tubular disease [Term] id: Orphanet:2198 name: Palmoplantar keratoderma-esophageal carcinoma syndrome xref: OMIM:148500 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101936 ! Rare gastro-esophageal disease relationship: part_of Orphanet:165658 ! Genetic gastro-esophageal disease relationship: part_of Orphanet:98353 ! Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature property_value: alternative:term "Bennion-Patterson syndrome" xsd:string property_value: alternative:term "Howell-Evans syndrome" xsd:string property_value: alternative:term "Keratosis palmoplantaris-esophageal carcinoma syndrome" xsd:string property_value: alternative:term "Palmoplantar hyperkeratosis-esophageal carcinoma syndrome" xsd:string property_value: alternative:term "Tylosis - oesophageal carcinoma" xsd:string [Term] id: Orphanet:2199 name: Epidermolytic palmoplantar keratoderma xref: ICD10:Q82.8 xref: OMIM:144200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:98349 ! Autosomal dominant isolated diffuse palmoplantar keratoderma property_value: alternative:term "Diffuse erythrodermic palmoplantar keratoderma, Voerner type" xsd:string property_value: alternative:term "Diffuse erythrodermic palmoplantar keratoderma, Vörner type" xsd:string property_value: alternative:term "Epidermolytic palmoplantar keratoderma of Voerner" xsd:string property_value: alternative:term "Epidermolytic palmoplantar keratoderma of Vörner" xsd:string property_value: alternative:term "EPPK" xsd:string [Term] id: Orphanet:22 name: 4-hydroxybutyric aciduria xref: ICD10:E72.8 xref: OMIM:271980 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:225707 ! Metabolic neurotransmission anomaly with epilepsy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79175 ! Disorder of gamma-aminobutyric acid metabolism property_value: alternative:term "Succinic semialdehyde dehydrogenase deficiency" xsd:string [Term] id: Orphanet:220 name: Denys-Drash syndrome xref: ICD10:N04.1 xref: MEDDRA:10070179 xref: MESH:D030321 xref: OMIM:194080 xref: SNOMED CT:236385009 xref: UMLS:C0950121 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102373 ! Primary glomerular disease relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:325638 ! Syndrome with disorder of sex development of gynecological interest relationship: part_of Orphanet:98087 ! Syndrome with 46,XY disorder of sex development property_value: alternative:term "Drash syndrome" xsd:string property_value: alternative:term "Wilms tumor and pseudohermaphroditism" xsd:string [Term] id: Orphanet:2200 name: Focal palmoplantar and gingival keratoderma xref: ICD10:Q82.8 xref: OMIM:148730 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:98353 ! Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature property_value: alternative:term "Focal palmoplantar and gingival hyperkeratosis" xsd:string [Term] id: Orphanet:2201 name: Palmoplantar keratoderma-spastic paralysis syndrome xref: MESH:C536153 xref: OMIM:148360 xref: UMLS:C1835671 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:308031 ! Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature property_value: alternative:term "Palmoplantar hyperkeratosis-spastic paralysis syndrome" xsd:string property_value: alternative:term "Powell-Venencie-Gordon syndrome" xsd:string [Term] id: Orphanet:2202 name: Palmoplantar keratoderma-deafness syndrome xref: ICD10:Q82.8 xref: MESH:C536152 xref: OMIM:148350 xref: UMLS:C1835672 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98352 ! Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature property_value: alternative:term "Palmoplantar hyperkeratosis-deafness syndrome" xsd:string property_value: alternative:term "Palmoplantar hyperkeratosis-hearing loss syndrome" xsd:string property_value: alternative:term "Palmoplantar keratoderma-hearing loss syndrome" xsd:string property_value: alternative:term "PPK-deafness syndrome" xsd:string [Term] id: Orphanet:220295 name: Xeroderma pigmentosum/Cockayne syndrome complex xref: ICD10:Q82.1 xref: ICD10:Q87.1 xref: OMIM:278730 xref: OMIM:278760 xref: OMIM:278780 xref: OMIM:610651 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:139033 ! Progeroid syndrome relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:183490 ! Genetic photodermatosis relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:363245 ! Genetic progeroid syndrome relationship: part_of Orphanet:79389 ! Premature aging relationship: part_of Orphanet:79390 ! Rare photodermatosis relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98097 ! Autosomal recessive cerebellar ataxia due to a DNA repair defect relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa property_value: alternative:term "XP/CS complex" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by cutaneous features of xeroderma pigmentosum (XP) together with systemic and neurological features of Cockayne syndrome (CS; see this term)." xsd:string [Term] id: Orphanet:2203 name: Hyperlysinemia xref: ICD10:E72.3 xref: MESH:D020167 xref: OMIM:238700 xref: OMIM:238710 xref: SNOMED CT:58558003 xref: UMLS:C0268553 xref: UMLS:C0936256 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:289832 ! Disorder of lysine and hydroxylysine metabolism property_value: alternative:term "Hyperlysinemia type I" xsd:string property_value: alternative:term "Lysine alpha-ketoglutarate reductase deficiency" xsd:string [Term] id: Orphanet:220386 name: Semilobar holoprosencephaly xref: ICD10:Q04.2 xref: SNOMED CT:253138008 xref: UMLS:C0751617 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:2162 ! Holoprosencephaly relationship: part_of Orphanet:95495 ! Disease associated with nonacquired combined pituitary hormone deficiency property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." xsd:string [Term] id: Orphanet:220393 name: Diffuse cutaneous systemic sclerosis xref: ICD10:M34.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:90291 ! Systemic sclerosis property_value: alternative:term "Diffuse cutaneous systemic scleroderma" xsd:string property_value: alternative:term "Progressive cutaneous systemic scleroderma" xsd:string property_value: alternative:term "Progressive cutaneous systemic sclerosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement)." xsd:string [Term] id: Orphanet:2204 name: Dysplastic cortical hyperostosis xref: ICD10:M89.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density property_value: alternative:term "Kozlowski-Tsuruta syndrome" xsd:string [Term] id: Orphanet:220402 name: Limited cutaneous systemic sclerosis xref: ICD10:M34.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:90291 ! Systemic sclerosis property_value: alternative:term "Limited cutaneous systemic scleroderma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms." xsd:string [Term] id: Orphanet:220407 name: Limited systemic sclerosis xref: ICD10:M34.0 xref: SNOMED CT:299276009 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:90291 ! Systemic sclerosis property_value: alternative:term "Systemic sclerosis sine scleroderma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc; see this term) characterized by organ involvement in the absence of fibrosis of the skin." xsd:string [Term] id: Orphanet:220436 name: Quebec platelet disorder xref: ICD10:D69.1 xref: MESH:C536260 xref: OMIM:601709 xref: UMLS:C1866423 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98455 ! Alpha granule disease property_value: alternative:term "Factor V Quebec" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds." xsd:string [Term] id: Orphanet:220443 name: Bleeding diathesis due to thromboxane synthesis deficiency xref: ICD10:D69.8 xref: OMIM:614009 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:275729 ! Rare hemorrhagic disorder due to a constitutional thrombocytopenia [Term] id: Orphanet:220448 name: Macrothrombocytopenia with mitral valve insufficiency xref: ICD10:D69.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:220452 ! Inherited giant platelet disorder [Term] id: Orphanet:220452 name: Inherited giant platelet disorder xref: ICD10:D69.1 is_a: Orphanet:275729 ! Rare hemorrhagic disorder due to a constitutional thrombocytopenia property_value: alternative:term "Inherited macrothrombocytopenia" xsd:string [Term] id: Orphanet:220460 name: Attenuated familial adenomatous polyposis xref: ICD10:D12.6 xref: MESH:C538265 xref: OMIM:175100 xref: OMIM:608456 xref: UMLS:C2674616 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:104010 ! Intestinal polyposis syndrome relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:271835 ! Genetic digestive tract tumor relationship: part_of Orphanet:363314 ! Genetic intestinal polyposis property_value: alternative:term "AFAP" xsd:string property_value: alternative:term "Attenuated familial polyposis coli" xsd:string property_value: alternative:term "Attenuated FAP" xsd:string [Term] id: Orphanet:220465 name: Laron syndrome with immunodeficiency xref: ICD10:D82.8 xref: ICD10:E34.3 xref: OMIM:245590 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency relationship: part_of Orphanet:181393 ! Growth hormone insensitivity syndrome property_value: alternative:term "Laron-like syndrome" xsd:string property_value: alternative:term "Short stature due to STAT5b deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "This syndrome is characterized by severe growth retardation associated with immunodeficiency." xsd:string [Term] id: Orphanet:220489 name: Rare hereditary hemochromatosis xref: ICD10:E83.1 is_a: Orphanet:101940 ! Metabolic liver disease is_a: Orphanet:309842 ! Disorder of iron metabolism and transport property_value: alternative:term "Iron overload disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease." xsd:string [Term] id: Orphanet:220493 name: Joubert syndrome with ocular defect xref: ICD10:H35.5 xref: ICD10:Q04.3 xref: OMIM:608629 xref: OMIM:614424 xref: OMIM:614464 xref: OMIM:614970 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:140874 ! Joubert syndrome and related disorders relationship: part_of Orphanet:269523 ! Syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:269567 ! Genetic syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa relationship: part_of Orphanet:98683 ! Syndrome with a symptomatic strabismus relationship: part_of Orphanet:98688 ! Oculomotor apraxia or related oculomotor disease property_value: alternative:term "Joubert syndrome with retinopathy" xsd:string property_value: alternative:term "JS-O" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy." xsd:string [Term] id: Orphanet:220497 name: Joubert syndrome with renal defect xref: ICD10:Q04.3 xref: ICD10:Q61.5 xref: OMIM:609583 xref: OMIM:611560 xref: OMIM:614424 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:140874 ! Joubert syndrome and related disorders relationship: part_of Orphanet:269523 ! Syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:269567 ! Genetic syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:93587 ! Familial cystic renal disease property_value: alternative:term "JS-R" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy." xsd:string [Term] id: Orphanet:2206 name: Ankylosing vertebral hyperostosis with tylosis xref: OMIM:106400 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93454 ! Dysostosis with predominant vertebral and costal involvement [Term] id: Orphanet:2207 name: Familial primary hyperparathyroidism xref: ICD10:E21.0 is_a: Orphanet:100090 ! Rare parathyroid tumor is_a: Orphanet:181408 ! Rare hyperparathyroidism is_a: Orphanet:208596 ! Genetic hyperparathyroidism relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:220737 name: interleukin 31 receptor A xref: ENSEMBL:ENSG00000164509 xref: GENATLAS:IL31RA xref: HGNC:18969 xref: OMIM:609510 xref: UNIPROTKB/SWISSPROT:Q8NI17 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:353220 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial primary localized cutaneous amyloidosis property_value: alternative:term "CRL" xsd:string property_value: alternative:term "CRL3" xsd:string property_value: alternative:term "GLM-R" xsd:string property_value: alternative:term "Glmr" xsd:string property_value: alternative:term "IL-31RA" xsd:string property_value: symbol "IL31RA" xsd:string [Term] id: Orphanet:220744 name: collagen and calcium binding EGF domains 1 xref: ENSEMBL:ENSG00000183287 xref: GENATLAS:CCBE1 xref: HGNC:29426 xref: OMIM:612753 xref: UNIPROTKB/SWISSPROT:Q6UXH8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2136 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hennekam syndrome property_value: alternative:term "FLJ30681" xsd:string property_value: alternative:term "KIAA1983" xsd:string property_value: symbol "CCBE1" xsd:string [Term] id: Orphanet:220877 name: soc-2 suppressor of clear homolog (C. elegans) xref: ENSEMBL:ENSG00000108061 xref: GENATLAS:SHOC2 xref: HGNC:15454 xref: OMIM:602775 xref: UNIPROTKB/SWISSPROT:Q9UQ13 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2701 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Noonan syndrome-like disorder with loose anagen hair property_value: alternative:term "KIAA0862" xsd:string property_value: alternative:term "SOC-2" xsd:string property_value: alternative:term "soc-2 (suppressor of clear, C.elegans) homolog" xsd:string property_value: alternative:term "SOC2" xsd:string property_value: alternative:term "SUR-8" xsd:string property_value: alternative:term "SUR8" xsd:string property_value: symbol "SHOC2" xsd:string [Term] id: Orphanet:2209 name: Maternal hyperphenylalaninemia xref: ICD10:E70.1 xref: ICD10:P00.8 xref: OMIM:261600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:138059 ! Teratogenic Pierre Robin syndrome relationship: part_of Orphanet:251535 ! Maternal disease-related embryofetopathy relationship: part_of Orphanet:284814 ! Disorder of phenylalanine metabolism property_value: alternative:term "Hyperphenylalaninemic embryopathy" xsd:string property_value: alternative:term "Maternal phenylketonuria" xsd:string property_value: alternative:term "Maternal PKU" xsd:string property_value: alternative:term "Phenylketonuric embryopathy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Maternal phenylalaninemia refers to developmental anomalies that may occur in offspring of women affected by phenylketonuria (PKU), and include fetal development disorders, including microcephaly, intrauterine growth retardation, and subsequent intellectual deficit, and embryo development disorders such as heart defects (usually conotruncal), corpus callosus agenesis, neuronal migration disorders, facial dysmorphism and more rarely cleft palate, tracheo-esophageal abnormalities." xsd:string [Term] id: Orphanet:220900 name: melanocortin 3 receptor xref: ENSEMBL:ENSG00000124089 xref: GENATLAS:MC3R xref: HGNC:6931 xref: IUPHAR:284 xref: OMIM:155540 xref: REACTOME:P41968 xref: UNIPROTKB/SWISSPROT:P41968 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:217031 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Obesity due to MC3R deficiency property_value: alternative:term "MC3" xsd:string property_value: symbol "MC3R" xsd:string [Term] id: Orphanet:220903 name: synaptonemal complex protein 3 xref: ENSEMBL:ENSG00000139351 xref: GENATLAS:SYCP3 xref: HGNC:18130 xref: OMIM:604759 xref: REACTOME:Q8IZU3 xref: UNIPROTKB/SWISSPROT:Q8IZU3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:217034 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Male infertility with normal virilization due to meiosis defect property_value: symbol "SYCP3" xsd:string [Term] id: Orphanet:220905 name: histidine-rich glycoprotein xref: ENSEMBL:ENSG00000113905 xref: GENATLAS:HRG xref: HGNC:5181 xref: OMIM:142640 xref: REACTOME:P04196 xref: UNIPROTKB/SWISSPROT:P04196 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:217467 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency property_value: alternative:term "histidine-proline rich glycoprotein" xsd:string property_value: alternative:term "HPRG" xsd:string property_value: alternative:term "HRGP" xsd:string property_value: alternative:term "thrombophilia due to elevated HRG" xsd:string property_value: symbol "HRG" xsd:string [Term] id: Orphanet:220909 name: FRAS1 related extracellular matrix 1 xref: ENSEMBL:ENSG00000164946 xref: GENATLAS:FREM1 xref: HGNC:23399 xref: OMIM:608944 xref: UNIPROTKB/SWISSPROT:Q5H8C1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2140 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Congenital diaphragmatic hernia relationship: Orphanet:317343 Orphanet:217266 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! BNAR syndrome relationship: Orphanet:317343 Orphanet:2717 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oculotrichoanal syndrome relationship: Orphanet:317343 Orphanet:3366 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated trigonocephaly property_value: alternative:term "C9orf143" xsd:string property_value: alternative:term "C9orf145" xsd:string property_value: alternative:term "C9orf154" xsd:string property_value: alternative:term "chromosome 9 open reading frame 154" xsd:string property_value: alternative:term "DKFZp686M16108" xsd:string property_value: alternative:term "FLJ25461" xsd:string property_value: alternative:term "TILRR" xsd:string property_value: symbol "FREM1" xsd:string [Term] id: Orphanet:220916 name: Ras and Rab interactor 2 xref: ENSEMBL:ENSG00000132669 xref: GENATLAS:RIN2 xref: HGNC:18750 xref: OMIM:610222 xref: UNIPROTKB/SWISSPROT:Q8WYP3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:217335 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MACS syndrome property_value: alternative:term "RASSF4" xsd:string property_value: symbol "RIN2" xsd:string [Term] id: Orphanet:220919 name: folate receptor 1 (adult) xref: ENSEMBL:ENSG00000110195 xref: GENATLAS:FOLR1 xref: HGNC:3791 xref: OMIM:136430 xref: UNIPROTKB/SWISSPROT:P15328 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:217382 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neurodegenerative syndrome due to cerebral folate transport deficiency property_value: alternative:term "FOLR" xsd:string property_value: symbol "FOLR1" xsd:string [Term] id: Orphanet:220922 name: dedicator of cytokinesis 8 xref: ENSEMBL:ENSG00000107099 xref: GENATLAS:DOCK8 xref: HGNC:19191 xref: OMIM:611432 xref: REACTOME:Q8NF50 xref: UNIPROTKB/SWISSPROT:Q8NF50 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169446 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive hyper-IgE syndrome relationship: Orphanet:317343 Orphanet:178469 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic intellectual deficit relationship: Orphanet:317343 Orphanet:217390 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined immunodeficiency due to DOCK8 deficiency property_value: alternative:term "FLJ00026" xsd:string property_value: alternative:term "FLJ00152" xsd:string property_value: alternative:term "FLJ00346" xsd:string property_value: alternative:term "ZIR8" xsd:string property_value: symbol "DOCK8" xsd:string [Term] id: Orphanet:220928 name: desmocollin 3 xref: ENSEMBL:ENSG00000134762 xref: GENATLAS:DSC3 xref: HGNC:3037 xref: OMIM:600271 xref: UNIPROTKB/SWISSPROT:Q14574 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:217407 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary hypotrichosis with recurrent skin vesicles property_value: alternative:term "CDHF3" xsd:string property_value: alternative:term "DSC" xsd:string property_value: alternative:term "DSC1" xsd:string property_value: alternative:term "DSC2" xsd:string property_value: alternative:term "DSC4" xsd:string property_value: symbol "DSC3" xsd:string [Term] id: Orphanet:221 name: Dermatomyositis xref: ICD10:M33.0 xref: ICD10:M33.1 xref: MEDDRA:10012503 xref: MESH:D003882 xref: SNOMED CT:396230008 xref: UMLS:C0011633 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:182228 ! Systemic autoimmune disease relationship: part_of Orphanet:290836 ! Systemic disease with skin involvement relationship: part_of Orphanet:93551 ! Secondary glomerular disease relationship: part_of Orphanet:98482 ! Idiopathic inflammatory myopathy property_value: alternative:term "Adult-onset dermatomyositis" xsd:string property_value: alternative:term "DM" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetricalproximal muscle weakness." xsd:string [Term] id: Orphanet:221008 name: Rothmund-Thomson syndrome type 1 xref: ICD10:Q82.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2909 ! Rothmund-Thomson syndrome property_value: alternative:term "Poikiloderma of Rothmund-Thomson type 1" xsd:string property_value: alternative:term "RTS1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer." xsd:string [Term] id: Orphanet:221016 name: Rothmund-Thomson syndrome type 2 xref: ICD10:Q82.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:222628 ! Hereditary poikiloderma relationship: part_of Orphanet:2909 ! Rothmund-Thomson syndrome relationship: part_of Orphanet:98703 ! Disease with potential neoplastic degeneration associated with ocular features property_value: alternative:term "Poikiloderma of Rothmund-Thomson type 2" xsd:string property_value: alternative:term "RTS2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life." xsd:string [Term] id: Orphanet:221039 name: Hereditary sclerosing poikiloderma, Weary type xref: ICD10:Q82.8 xref: OMIM:173700 xref: SNOMED CT:403774004 xref: UMLS:C1275083 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:222628 ! Hereditary poikiloderma [Term] id: Orphanet:221043 name: Hereditary sclerosing poikiloderma with tendon and pulmonary involvement xref: ICD10:Q82.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:222628 ! Hereditary poikiloderma relationship: part_of Orphanet:264740 ! Primary interstitial lung disease specific to adulthood relationship: part_of Orphanet:264992 ! Genetic interstitial lung disease [Term] id: Orphanet:221046 name: Poikiloderma with neutropenia xref: ICD10:D82.8 xref: OMIM:604173 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:222628 ! Hereditary poikiloderma relationship: part_of Orphanet:331184 ! Constitutional neutropenia with extra-haematopoietic manifestations property_value: alternative:term "Poikiloderma with neutropenia, Clericuzio type" xsd:string [Term] id: Orphanet:221054 name: Acrocephalopolydactyly xref: ICD10:Q87.0 xref: OMIM:200995 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis property_value: alternative:term "Acrocephalopolydactylous dysplasia" xsd:string property_value: alternative:term "Elejalde syndrome" xsd:string [Term] id: Orphanet:221061 name: Hereditary cerebral cavernous malformation xref: ICD10:D18.0 xref: OMIM:116860 xref: OMIM:603284 xref: OMIM:603285 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:102006 ! Neurovascular malformation relationship: part_of Orphanet:211240 ! Genetic vascular anomaly relationship: part_of Orphanet:211247 ! Capillary malformation relationship: part_of Orphanet:371436 ! Genetic neurovascular malformation property_value: alternative:term "Familial cerebral cavernoma" xsd:string property_value: alternative:term "Familial cerebral cavernous malformation" xsd:string property_value: alternative:term "Hereditary cerebral cavernoma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial cerebral cavernous malformations (FCCMs) is a rare evolutive vascular malformation disorder appearing on the MRI as multiple lesions that are caused by vascular malformations composed of closely clustered irregular dilated capillaries and is frequently characterized clinically by seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages." xsd:string [Term] id: Orphanet:221074 name: Marchiafava-Bignami disease xref: ICD10:G37.1 xref: MEDDRA:10026828 xref: MESH:D054319 xref: SNOMED CT:386766007 xref: UMLS:C0238265 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease [Term] id: Orphanet:221078 name: Combined hyperactive dysfunction syndrome of the cranial nerves is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:221109 ! Cranial neuralgia [Term] id: Orphanet:221083 name: Clonic hemifacial spasm xref: ICD10:G51.3 xref: OMIM:141405 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:221114 ! Acquired peripheral movement disorder property_value: alternative:term "Facial hemispasm" xsd:string property_value: alternative:term "Focal myoclonus of face" xsd:string [Term] id: Orphanet:221091 name: Trigeminal neuralgia xref: ICD10:G50.0 xref: MEDDRA:10044652 xref: MESH:D014277 xref: OMIM:190400 xref: SNOMED CT:31681005 xref: UMLS:C0040997 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:221109 ! Cranial neuralgia property_value: alternative:term "Tic douloureux" xsd:string [Term] id: Orphanet:221098 name: Glossopharyngeal neuralgia xref: ICD10:G52.1 xref: MEDDRA:10018391 xref: SNOMED CT:43763009 xref: UMLS:C0154731 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:221109 ! Cranial neuralgia property_value: alternative:term "Glossovasopharyngeal neuralgia" xsd:string [Term] id: Orphanet:2211 name: Hypertelorism - hypospadias - polysyndactyly syndrome xref: ICD10:Q87.0 xref: OMIM:239710 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Acro-fronto-facio-nasal dysostosis type 2" xsd:string property_value: alternative:term "Acro-fronto-facio-nasal syndrome type 2" xsd:string property_value: alternative:term "Naguib-Richieri-Costa syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies." xsd:string [Term] id: Orphanet:221106 name: Isolated facial myokymia xref: ICD10:G51.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:221114 ! Acquired peripheral movement disorder [Term] id: Orphanet:221109 name: Cranial neuralgia xref: ICD10:G50 xref: ICD10:G51 xref: ICD10:G52 xref: ICD10:G53 xref: SNOMED CT:23096007 xref: UMLS:C0010269 is_a: Orphanet:182086 ! Acquired peripheral neuropathy property_value: alternative:term "Facial neuralgia" xsd:string [Term] id: Orphanet:221114 name: Acquired peripheral movement disorder is_a: Orphanet:182086 ! Acquired peripheral neuropathy [Term] id: Orphanet:221117 name: Gerstmann syndrome xref: MEDDRA:10048608 xref: MESH:D005862 xref: SNOMED CT:36785009 xref: UMLS:C0017494 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98006 ! Rare neurologic disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe." xsd:string [Term] id: Orphanet:221120 name: Pseudoaminopterin syndrome xref: ICD10:Q82.0 xref: OMIM:600325 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis property_value: alternative:term "Aminopterin syndrome-like sine aminopterin" xsd:string property_value: alternative:term "ASSA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature." xsd:string [Term] id: Orphanet:221126 name: Fowler syndrome xref: OMIM:225790 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature relationship: part_of Orphanet:269564 ! Genetic syndrome with a central nervous system malformation as major feature property_value: alternative:term "Cerebral proliferative glomeruloid vasculopathy" xsd:string property_value: alternative:term "Encephaloclastic proliferative vasculopathy" xsd:string property_value: alternative:term "Hydrocephaly/hydranencephaly due to cerebral vasculopathy" xsd:string property_value: alternative:term "Proliferative vasculopathy and hydranencephaly/hydrocephaly" xsd:string [Term] id: Orphanet:221139 name: Combined immunodeficiency with facio-oculo-skeletal anomalies xref: ICD10:D82.8 xref: OMIM:613328 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "Roifman-Chitayat syndrome" xsd:string [Term] id: Orphanet:221142 name: Confetti-like macular atrophy is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:228272 ! Primary anetoderma [Term] id: Orphanet:221145 name: Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies xref: ICD10:Q82.8 xref: OMIM:613177 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:209 ! Cutis laxa property_value: alternative:term "Urban-Rifkin-Davis syndrome" xsd:string [Term] id: Orphanet:221150 name: Pitt-Hopkins-like syndrome xref: OMIM:610042 xref: OMIM:614325 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:221162 name: complement component 1, q subcomponent, A chain xref: ENSEMBL:ENSG00000173372 xref: GENATLAS:C1QA xref: HGNC:1241 xref: OMIM:120550 xref: REACTOME:P02745 xref: UNIPROTKB/SWISSPROT:P02745 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169147 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency due to an early component of complement deficiency property_value: alternative:term "complement component 1, q subcomponent, alpha polypeptide" xsd:string property_value: symbol "C1QA" xsd:string [Term] id: Orphanet:221166 name: complement component 1, q subcomponent, B chain xref: ENSEMBL:ENSG00000173369 xref: GENATLAS:C1QB xref: HGNC:1242 xref: OMIM:120570 xref: REACTOME:P02746 xref: UNIPROTKB/SWISSPROT:P02746 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169147 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency due to an early component of complement deficiency property_value: alternative:term "complement component 1, q subcomponent, beta polypeptide" xsd:string property_value: symbol "C1QB" xsd:string [Term] id: Orphanet:221168 name: complement component 1, q subcomponent, C chain xref: ENSEMBL:ENSG00000159189 xref: GENATLAS:C1QC xref: HGNC:1245 xref: OMIM:120575 xref: REACTOME:P02747 xref: UNIPROTKB/SWISSPROT:P02747 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169147 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency due to an early component of complement deficiency property_value: alternative:term "C1QG" xsd:string property_value: alternative:term "complement component 1, q subcomponent, gamma polypeptide" xsd:string property_value: symbol "C1QC" xsd:string [Term] id: Orphanet:221171 name: complement component 1, s subcomponent xref: ENSEMBL:ENSG00000182326 xref: GENATLAS:C1S xref: HGNC:1247 xref: IUPHAR:2335 xref: OMIM:120580 xref: REACTOME:P09871 xref: UNIPROTKB/SWISSPROT:P09871 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169147 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency due to an early component of complement deficiency property_value: symbol "C1S" xsd:string [Term] id: Orphanet:221173 name: CD59 molecule, complement regulatory protein xref: ENSEMBL:ENSG00000085063 xref: GENATLAS:CD59 xref: HGNC:1689 xref: OMIM:107271 xref: REACTOME:P13987 xref: UNIPROTKB/SWISSPROT:P13987 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169464 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary CD59 deficiency property_value: alternative:term "16.3A5" xsd:string property_value: alternative:term "CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344)" xsd:string property_value: alternative:term "CD59 antigen, complement regulatory protein" xsd:string property_value: alternative:term "EJ16" xsd:string property_value: alternative:term "EJ30" xsd:string property_value: alternative:term "EL32" xsd:string property_value: alternative:term "G344" xsd:string property_value: alternative:term "MIC11" xsd:string property_value: alternative:term "MIN1" xsd:string property_value: alternative:term "MIN2" xsd:string property_value: alternative:term "MIN3" xsd:string property_value: alternative:term "MSK21" xsd:string property_value: alternative:term "p18-20" xsd:string property_value: symbol "CD59" xsd:string [Term] id: Orphanet:221180 name: CD79a molecule, immunoglobulin-associated alpha xref: ENSEMBL:ENSG00000105369 xref: GENATLAS:CD79A xref: HGNC:1698 xref: OMIM:112205 xref: REACTOME:P11912 xref: UNIPROTKB/SWISSPROT:P11912 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:33110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal agammaglobulinemia property_value: alternative:term "CD79A antigen (immunoglobulin-associated alpha)" xsd:string property_value: alternative:term "IGA" xsd:string property_value: alternative:term "MB-1" xsd:string property_value: symbol "CD79A" xsd:string [Term] id: Orphanet:221184 name: CD8a molecule xref: ENSEMBL:ENSG00000153563 xref: GENATLAS:CD8A xref: HGNC:1706 xref: OMIM:186910 xref: REACTOME:P01732 xref: UNIPROTKB/SWISSPROT:P01732 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169085 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Susceptibility to respiratory infections associated with CD8alpha chain mutation property_value: alternative:term "CD8" xsd:string property_value: alternative:term "CD8 antigen, alpha polypeptide (p32)" xsd:string property_value: alternative:term "T-cell surface glycoprotein CD8 alpha chain" xsd:string property_value: symbol "CD8A" xsd:string [Term] id: Orphanet:221187 name: complement factor D (adipsin) xref: ENSEMBL:ENSG00000197766 xref: GENATLAS:CFD xref: HGNC:2771 xref: OMIM:134350 xref: REACTOME:P00746 xref: UNIPROTKB/SWISSPROT:P00746 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169467 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Recurrent Neisseria infections due to factor D deficiency property_value: alternative:term "ADN" xsd:string property_value: alternative:term "D component of complement (adipsin)" xsd:string property_value: alternative:term "DF" xsd:string property_value: alternative:term "PFD" xsd:string property_value: alternative:term "properdin factor D" xsd:string property_value: symbol "CFD" xsd:string [Term] id: Orphanet:221192 name: immunoglobulin heavy constant gamma 2 (G2m marker) xref: ENSEMBL:ENSG00000211893 xref: GENATLAS:IGHG2 xref: HGNC:5526 xref: OMIM:147110 xref: REACTOME:P01859 xref: UNIPROTKB/SWISSPROT:P01859 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:183675 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Recurrent infections associated with rare immunoglobulin isotypes deficiency property_value: symbol "IGHG2" xsd:string [Term] id: Orphanet:2213 name: Hypertelorism-microtia-facial clefting syndrome xref: ICD10:Q87.0 xref: OMIM:239800 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Bixler-Christian-Gorlin syndrome" xsd:string property_value: alternative:term "HMC syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia." xsd:string [Term] id: Orphanet:221339 name: lamin B2 xref: ENSEMBL:ENSG00000176619 xref: GENATLAS:LMNB2 xref: HGNC:6638 xref: OMIM:150341 xref: UNIPROTKB/SWISSPROT:Q03252 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:79087 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Partial acquired lipodystrophy property_value: alternative:term "LMN2" xsd:string property_value: symbol "LMNB2" xsd:string [Term] id: Orphanet:221342 name: transmembrane protein 216 xref: ENSEMBL:ENSG00000187049 xref: GENATLAS:TMEM216 xref: HGNC:25018 xref: OMIM:613277 xref: UNIPROTKB/SWISSPROT:Q9P0N5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2318 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with oculorenal defect relationship: Orphanet:317343 Orphanet:2754 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with orofaciodigital defect relationship: Orphanet:317343 Orphanet:564 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Meckel syndrome property_value: alternative:term "cerebello-oculo-renal syndrome 2" xsd:string property_value: alternative:term "CORS2" xsd:string property_value: alternative:term "HSPC244" xsd:string property_value: alternative:term "JBTS2" xsd:string property_value: alternative:term "Meckel syndrome, type 2" xsd:string property_value: alternative:term "MGC13379" xsd:string property_value: alternative:term "MKS2" xsd:string property_value: symbol "TMEM216" xsd:string [Term] id: Orphanet:221346 name: neuroblastoma RAS viral (v-ras) oncogene homolog xref: ENSEMBL:ENSG00000213281 xref: GENATLAS:NRAS xref: HGNC:7989 xref: OMIM:164790 xref: REACTOME:P01111 xref: UNIPROTKB/SWISSPROT:P01111 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3261 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autoimmune lymphoproliferative syndrome relationship: Orphanet:317343 Orphanet:648 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Noonan syndrome relationship: Orphanet:317344 Orphanet:626 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Large congenital melanocytic nevus relationship: Orphanet:317344 Orphanet:86834 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Juvenile myelomonocytic leukemia property_value: alternative:term "N-ras" xsd:string property_value: symbol "NRAS" xsd:string [Term] id: Orphanet:221348 name: small nuclear ribonucleoprotein 200kDa (U5) xref: ENSEMBL:ENSG00000144028 xref: GENATLAS:SNRNP200 xref: HGNC:30859 xref: OMIM:601664 xref: REACTOME:O75643 xref: UNIPROTKB/SWISSPROT:O75643 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "activating signal cointegrator 1 complex subunit 3-like 1" xsd:string property_value: alternative:term "ASCC3L1" xsd:string property_value: alternative:term "BRR2" xsd:string property_value: alternative:term "HELIC2" xsd:string property_value: alternative:term "KIAA0788" xsd:string property_value: alternative:term "retinitis pigmentosa 33 (autosomal dominant)" xsd:string property_value: alternative:term "RP33" xsd:string property_value: alternative:term "U5 snRNP specific protein, 200 KD" xsd:string property_value: alternative:term "U5-200KD" xsd:string property_value: symbol "SNRNP200" xsd:string [Term] id: Orphanet:221356 name: lipoxygenase homology domains 1 xref: ENSEMBL:ENSG00000167210 xref: GENATLAS:LOXHD1 xref: HGNC:26521 xref: OMIM:613072 xref: UNIPROTKB/SWISSPROT:Q8IVV2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "deafness, autosomal recessive 77" xsd:string property_value: alternative:term "DFNB77" xsd:string property_value: alternative:term "FLJ32670" xsd:string property_value: alternative:term "LH2D1" xsd:string property_value: symbol "LOXHD1" xsd:string [Term] id: Orphanet:2215 name: Malignant hyperthermia - arthrogryposis - torticollis xref: OMIM:217150 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:1037 ! Arthrogryposis multiplex congenita relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations property_value: alternative:term "Froster-Iskenius-Waterson syndrome" xsd:string [Term] id: Orphanet:2216 name: Maternal hyperthermia induced birth defects xref: ICD10:Q86.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:138059 ! Teratogenic Pierre Robin syndrome relationship: part_of Orphanet:251535 ! Maternal disease-related embryofetopathy [Term] id: Orphanet:2218 name: Cervical hypertrichosis - peripheral neuropathy xref: OMIM:239840 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:269546 ! Syndrome with a Dandy-Walker malformation as major feature relationship: part_of Orphanet:269570 ! Genetic syndrome with a Dandy-Walker malformation as major feature relationship: part_of Orphanet:79365 ! Hypertrichosis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cervical hypertrichosis - peripheral neuropathy syndrome is characterised by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy." xsd:string [Term] id: Orphanet:222 name: Erosive pustular dermatosis of the scalp xref: SNOMED CT:238733003 xref: UMLS:C0406464 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:90077 ! Other acquired skin disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia." xsd:string [Term] id: Orphanet:2220 name: Hypertrichosis cubiti - short stature xref: OMIM:139600 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79365 ! Hypertrichosis relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Hairy elbows" xsd:string property_value: alternative:term "MacDermot-Patton-Williams syndrome" xsd:string [Term] id: Orphanet:2221 name: Acquired hypertrichosis lanuginosa xref: ICD10:L68.1 xref: SNOMED CT:25967007 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79365 ! Hypertrichosis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary." xsd:string [Term] id: Orphanet:2222 name: Hypertrichosis lanuginosa congenita xref: ICD10:Q84.2 xref: MESH:C538389 xref: OMIM:145700 xref: OMIM:145701 xref: OMIM:307150 xref: SNOMED CT:201163007 xref: SNOMED CT:403799003 xref: UMLS:C0235864 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79365 ! Hypertrichosis relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:98595 ! Eyebrow/eyelashes hypertrichosis property_value: alternative:term "Hypertrichosis universalis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes." xsd:string [Term] id: Orphanet:2224 name: Hypertryptophanemia xref: ICD10:E70.8 xref: MESH:C538393 xref: OMIM:600627 xref: UMLS:C2931837 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:289829 ! Disorder of tryptophan metabolism [Term] id: Orphanet:222628 name: Hereditary poikiloderma is_a: Orphanet:183426 ! Genetic epidermal disease is_a: Orphanet:79353 ! Epidermal disease [Term] id: Orphanet:2228 name: Hypodontia - dysplasia of nails xref: ICD10:Q82.4 xref: OMIM:189500 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Hypodontia - nail dysgenesis" xsd:string property_value: alternative:term "Tooth and nail syndrome" xsd:string property_value: alternative:term "Witkop syndrome" xsd:string [Term] id: Orphanet:2229 name: Dilated cardiomyopathy - hypergonadotropic hypogonadism xref: OMIM:212112 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181441 ! Non-hypogonadotropic hypogonadism relationship: part_of Orphanet:217619 ! Syndrome associated with dilated cardiomyopathy property_value: alternative:term "Cardiogenital syndrome" xsd:string property_value: alternative:term "Malouf syndrome" xsd:string property_value: alternative:term "Najjar syndrome" xsd:string [Term] id: Orphanet:223 name: Nephrogenic diabetes insipidus xref: ICD10:N25.1 xref: MEDDRA:10029147 xref: MESH:D018500 xref: OMIM:125800 xref: OMIM:304800 xref: SNOMED CT:111395007 xref: UMLS:C0162283 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:183592 ! Genetic renal tubular disease relationship: part_of Orphanet:93603 ! Rare renal tubular disease [Term] id: Orphanet:2230 name: Hypogonadotropic hypogonadism - frontoparietal alopecia is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181387 ! Syndrome with hypogonadotropic hypogonadism property_value: alternative:term "Salti-Salem syndrome" xsd:string [Term] id: Orphanet:2232 name: Primary hypergonadotropic hypogonadism - partial alopecia xref: OMIM:241090 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:174590 ! Congenital hypogonadotropic hypogonadism relationship: part_of Orphanet:181441 ! Non-hypogonadotropic hypogonadism property_value: alternative:term "Al Awadi-Farag-Teebi syndrome" xsd:string [Term] id: Orphanet:2233 name: Hypogonadism - mitral valve prolapse - intellectual deficit is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181441 ! Non-hypogonadotropic hypogonadism property_value: alternative:term "Cantalamessa-Baldini-Ambrosi syndrome" xsd:string [Term] id: Orphanet:2234 name: Male hypergonadotropic hypogonadism - intellectual deficit - skeletal anomalies xref: ICD10:Q87.8 xref: OMIM:307500 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:181441 ! Non-hypogonadotropic hypogonadism relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Sohval-Soffer syndrome" xsd:string [Term] id: Orphanet:223447 name: plasminogen activator, urokinase xref: ENSEMBL:ENSG00000122861 xref: GENATLAS:PLAU xref: HGNC:9052 xref: IUPHAR:2393 xref: OMIM:191840 xref: REACTOME:P00749 xref: UNIPROTKB/SWISSPROT:P00749 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220436 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Quebec platelet disorder property_value: alternative:term "UPA" xsd:string property_value: alternative:term "URK" xsd:string property_value: symbol "PLAU" xsd:string [Term] id: Orphanet:2235 name: Hypogonadotropic hypogonadism - retinitis pigmentosa is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:174590 ! Congenital hypogonadotropic hypogonadism relationship: part_of Orphanet:181387 ! Syndrome with hypogonadotropic hypogonadism relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa property_value: alternative:term "Chang-Davidson-Carlson syndrome" xsd:string [Term] id: Orphanet:223546 name: NIPA-like domain containing 4 xref: ENSEMBL:ENSG00000172548 xref: GENATLAS:ICHTHYIN xref: HGNC:28018 xref: OMIM:609383 xref: UNIPROTKB/SWISSPROT:Q0D2K0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:313 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lamellar ichthyosis relationship: Orphanet:317343 Orphanet:79394 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital non-bullous ichthyosiform erythroderma property_value: alternative:term "ichthyin" xsd:string property_value: alternative:term "ICHYN" xsd:string property_value: alternative:term "NIPA-like 4" xsd:string property_value: symbol "NIPAL4" xsd:string [Term] id: Orphanet:2237 name: Hypoparathyroidism - deafness - renal disease xref: ICD10:Q87.8 xref: OMIM:146255 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181402 ! Syndrome with hypoparathyroidism relationship: part_of Orphanet:261938 ! Partial deletion of the short arm of chromosome 10 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Barakat syndrome" xsd:string property_value: alternative:term "HDR syndrome" xsd:string [Term] id: Orphanet:223713 name: Mitochondrial oxidative phosphorylation disorder is_a: Orphanet:68380 ! Mitochondrial disease property_value: alternative:term "OXPHOS disease" xsd:string [Term] id: Orphanet:223727 name: Bone sarcoma xref: MEDDRA:10006007 xref: UMLS:C1704327 is_a: Orphanet:68411 ! Rare bone tumor [Term] id: Orphanet:223735 name: Lymphoma xref: MEDDRA:10025310 xref: MESH:D008223 xref: SNOMED CT:118600007 xref: SNOMED CT:21964009 xref: UMLS:C0024299 is_a: Orphanet:171898 ! Lymphoid hemopathy [Term] id: Orphanet:2238 name: Familial isolated hypoparathyroidism xref: ICD10:E20.8 xref: ICD10:Q89.2 xref: MESH:C537156 xref: OMIM:146200 xref: OMIM:307700 xref: OMIM:601198 xref: OMIM:615361 xref: UMLS:C1832648 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181405 ! Rare hypoparathyroidism relationship: part_of Orphanet:208593 ! Genetic hypoparathyroidism relationship: part_of Orphanet:98712 ! Metabolic disease with cataract [Term] id: Orphanet:2239 name: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland xref: ICD10:E20.8 xref: OMIM:307700 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2238 ! Familial isolated hypoparathyroidism [Term] id: Orphanet:224 name: Neonatal diabetes mellitus xref: ICD10:P70.2 xref: MEDDRA:10028933 xref: SNOMED CT:49817004 xref: UMLS:C0158981 is_a: Orphanet:101952 ! Rare diabetes mellitus is_a: Orphanet:183625 ! Rare genetic diabetes mellitus relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "NDM" xsd:string [Term] id: Orphanet:2241 name: Megacystis-microcolon-intestinal hypoperistalsis syndrome xref: ICD10:Q43.8 xref: OMIM:249210 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:104009 ! Congenital intestinal motility disorder relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Berdon syndrome" xsd:string property_value: alternative:term "Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome" xsd:string property_value: alternative:term "MMIHS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis." xsd:string [Term] id: Orphanet:2243 name: Hypopituitarism - micropenis - cleft lip/palate is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_3157 with label: Septo-optic dysplasia" xsd:string [Term] id: Orphanet:2244 name: Hypopituitarism - microphthalmia is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_3157 with label: Septo-optic dysplasia" xsd:string [Term] id: Orphanet:2245 name: Hypopituitarism - postaxial polydactyly is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_3157 with label: Septo-optic dysplasia" xsd:string [Term] id: Orphanet:2246 name: Cerebellar hypoplasia - tapetoretinal degeneration xref: ICD10:Q04.3 xref: OMIM:213000 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:269523 ! Syndrome with a cerebellar malformation as major feature [Term] id: Orphanet:2248 name: Hypoplastic left heart syndrome xref: ICD10:Q23.4 xref: MEDDRA:10021076 xref: MESH:D018636 xref: OMIM:241550 xref: OMIM:614435 xref: SNOMED CT:62067003 xref: UMLS:C0152101 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:95483 ! Univentricular cardiopathy [Term] id: Orphanet:2249 name: Ulna hypoplasia - intellectual deficit xref: ICD10:Q87.2 xref: MESH:C536934 xref: OMIM:276821 xref: UMLS:C2931370 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation." xsd:string [Term] id: Orphanet:225 name: Maternally-inherited diabetes and deafness xref: ICD10:E13 xref: ICD10:H90.3 xref: MESH:C536246 xref: OMIM:520000 xref: SNOMED CT:237619009 xref: UMLS:C0342289 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:181381 ! Other rare diabetes mellitus relationship: part_of Orphanet:183625 ! Rare genetic diabetes mellitus relationship: part_of Orphanet:254776 ! Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98695 ! Mitochondrial disease with eye involvement property_value: alternative:term "MIDD" xsd:string property_value: alternative:term "Mitochondrial diabetes" xsd:string [Term] id: Orphanet:2250 name: Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism xref: OMIM:603457 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181387 ! Syndrome with hypogonadotropic hypogonadism property_value: alternative:term "Bosma-Henkin-Christiansen syndrome" xsd:string [Term] id: Orphanet:2251 name: Thumb deformity - alopecia - pigmentation anomaly xref: MESH:C536904 xref: OMIM:188150 xref: UMLS:C2931366 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:109009 ! Syndrome with limb malformations as a major feature [Term] id: Orphanet:225123 name: Hemochromatosis type 3 xref: ICD10:E83.1 xref: MESH:C537248 xref: OMIM:604250 xref: UMLS:C1858664 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:220489 ! Rare hereditary hemochromatosis property_value: alternative:term "TFR2-related hemochromatosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." xsd:string [Term] id: Orphanet:225147 name: Sporadic infantile bilateral striatal necrosis xref: ICD10:G23.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:1576 ! Infantile bilateral striatal necrosis property_value: alternative:term "Sporadic IBSN" xsd:string property_value: alternative:term "Sporadic infantile striatonigral degeneration" xsd:string property_value: alternative:term "Sporadic infantile striatonigral necrosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." xsd:string [Term] id: Orphanet:225154 name: Familial infantile bilateral striatal necrosis xref: ICD10:G23.2 xref: OMIM:271930 xref: OMIM:500003 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:1576 ! Infantile bilateral striatal necrosis property_value: alternative:term "Familial IBSN" xsd:string property_value: alternative:term "Familial infantile striatonigral degeneration" xsd:string property_value: alternative:term "Familial infantile striatonigral necrosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." xsd:string [Term] id: Orphanet:2252 name: Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema xref: ICD10:Q87.2 xref: OMIM:179250 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Schmitt-Gillenwater-Kelly syndrome" xsd:string [Term] id: Orphanet:225243 name: U6 snRNA biogenesis 1 xref: ENSEMBL:ENSG00000103005 xref: GENATLAS:HVSL1 xref: HGNC:25792 xref: OMIM:613276 xref: UNIPROTKB/SWISSPROT:Q9BQ65 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1775 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dyskeratosis congenita relationship: Orphanet:317343 Orphanet:221046 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Poikiloderma with neutropenia property_value: alternative:term "C16ORF57" xsd:string property_value: alternative:term "Chromosome 16 open reading frame 57" xsd:string property_value: alternative:term "FLJ13154" xsd:string property_value: alternative:term "HVSL motif containing 1" xsd:string property_value: alternative:term "HVSL1" xsd:string property_value: alternative:term "Mpn1" xsd:string property_value: alternative:term "mutated in poikiloderma with neutropenia protein 1" xsd:string property_value: alternative:term "poikiloderma with neutropenia" xsd:string property_value: alternative:term "U six biogenesis 1" xsd:string property_value: symbol "USB1" xsd:string [Term] id: Orphanet:225264 name: latent transforming growth factor beta binding protein 4 xref: ENSEMBL:ENSG00000090006 xref: GENATLAS:LTBP4 xref: HGNC:6717 xref: OMIM:604710 xref: REACTOME:Q8N2S1 xref: UNIPROTKB/SWISSPROT:Q8N2S1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:221145 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies relationship: Orphanet:317346 Orphanet:98896 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Duchenne muscular dystrophy property_value: alternative:term "FLJ46318" xsd:string property_value: alternative:term "FLJ90018" xsd:string property_value: alternative:term "LTBP-4" xsd:string property_value: alternative:term "LTBP-4L" xsd:string property_value: symbol "LTBP4" xsd:string [Term] id: Orphanet:225280 name: transient receptor potential cation channel, subfamily M, member 1 xref: ENSEMBL:ENSG00000134160 xref: GENATLAS:TRPM1 xref: HGNC:7146 xref: IUPHAR:493 xref: OMIM:603576 xref: REACTOME:Q7Z4N2 xref: UNIPROTKB/SWISSPROT:Q7Z4N2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:215 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital stationary night blindness property_value: alternative:term "LTRPC1" xsd:string property_value: alternative:term "melastatin 1" xsd:string property_value: alternative:term "MLSN1" xsd:string property_value: symbol "TRPM1" xsd:string [Term] id: Orphanet:225286 name: caspase recruitment domain family, member 9 xref: ENSEMBL:ENSG00000187796 xref: GENATLAS:CARD9 xref: HGNC:16391 xref: OMIM:607212 xref: REACTOME:Q9H257 xref: UNIPROTKB/SWISSPROT:Q9H257 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chronic mucocutaneous candidiasis property_value: symbol "CARD9" xsd:string [Term] id: Orphanet:225288 name: C-type lectin domain family 7, member A xref: ENSEMBL:ENSG00000172243 xref: GENATLAS:CLEC7A xref: HGNC:14558 xref: OMIM:606264 xref: UNIPROTKB/SWISSPROT:Q9BXN2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chronic mucocutaneous candidiasis property_value: alternative:term "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12" xsd:string property_value: alternative:term "CLECSF12" xsd:string property_value: alternative:term "dectin-1" xsd:string property_value: alternative:term "hDectin-1" xsd:string property_value: symbol "CLEC7A" xsd:string [Term] id: Orphanet:225293 name: WD repeat domain 72 xref: ENSEMBL:ENSG00000166415 xref: GENATLAS:WDR72 xref: HGNC:26790 xref: OMIM:613214 xref: UNIPROTKB/SWISSPROT:Q3MJ13 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100033 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypomaturation amelogenesis imperfecta property_value: alternative:term "FLJ38736" xsd:string property_value: symbol "WDR72" xsd:string [Term] id: Orphanet:2253 name: Foveal hypoplasia - presenile cataract xref: ICD10:H26.0 xref: OMIM:136520 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy property_value: alternative:term "O'Donnell-Pappas syndrome" xsd:string [Term] id: Orphanet:225306 name: nexilin (F actin binding protein) xref: ENSEMBL:ENSG00000162614 xref: GENATLAS:NEXN xref: HGNC:29557 xref: OMIM:613121 xref: UNIPROTKB/SWISSPROT:Q0ZGT2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy property_value: alternative:term "NELIN" xsd:string property_value: alternative:term "nexilin" xsd:string property_value: symbol "NEXN" xsd:string [Term] id: Orphanet:225329 name: glutaredoxin, cysteine rich 1 xref: ENSEMBL:ENSG00000215203 xref: GENATLAS:GRXCR1 xref: HGNC:31673 xref: OMIM:613283 xref: UNIPROTKB/SWISSPROT:A8MXD5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "deafness, autosomal recessive 25" xsd:string property_value: alternative:term "DFNB25" xsd:string property_value: symbol "GRXCR1" xsd:string [Term] id: Orphanet:225332 name: RAB39B, member RAS oncogene family xref: ENSEMBL:ENSG00000155961 xref: GENATLAS:RAB39B xref: HGNC:16499 xref: OMIM:300774 xref: UNIPROTKB/SWISSPROT:Q96DA2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit property_value: symbol "RAB39B" xsd:string [Term] id: Orphanet:225334 name: ribosomal protein S10 xref: ENSEMBL:ENSG00000124614 xref: GENATLAS:RPS10 xref: HGNC:10383 xref: OMIM:603632 xref: REACTOME:P46783 xref: UNIPROTKB/SWISSPROT:P46783 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:124 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Blackfan-Diamond anemia property_value: alternative:term "MGC88819" xsd:string property_value: alternative:term "S10" xsd:string property_value: symbol "RPS10" xsd:string [Term] id: Orphanet:225337 name: ribosomal protein S26 xref: ENSEMBL:ENSG00000197728 xref: GENATLAS:RPS26 xref: HGNC:10414 xref: OMIM:603701 xref: REACTOME:P62854 xref: UNIPROTKB/SWISSPROT:P62854 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:124 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Blackfan-Diamond anemia property_value: alternative:term "40S ribosomal protein S26" xsd:string property_value: alternative:term "S26" xsd:string property_value: symbol "RPS26" xsd:string [Term] id: Orphanet:225339 name: tetraspanin 12 xref: ENSEMBL:ENSG00000106025 xref: GENATLAS:TSPAN12 xref: HGNC:21641 xref: OMIM:613138 xref: UNIPROTKB/SWISSPROT:O95859 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:891 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial exudative vitreoretinopathy property_value: alternative:term "NET-2" xsd:string property_value: alternative:term "TM4SF12" xsd:string property_value: alternative:term "transmembrane 4 superfamily member 12" xsd:string property_value: symbol "TSPAN12" xsd:string [Term] id: Orphanet:225343 name: SH3 and PX domains 2B xref: ENSEMBL:ENSG00000174705 xref: GENATLAS:SH3PXD2B xref: HGNC:29242 xref: OMIM:613293 xref: UNIPROTKB/SWISSPROT:A1X283 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:137834 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Frank-Ter Haar syndrome property_value: alternative:term "FLJ20831" xsd:string property_value: alternative:term "KIAA1295" xsd:string property_value: symbol "SH3PXD2B" xsd:string [Term] id: Orphanet:225351 name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 xref: ENSEMBL:ENSG00000127616 xref: GENATLAS:SMARCA4 xref: HGNC:11100 xref: OMIM:603254 xref: UNIPROTKB/SWISSPROT:P51532 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1465 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Coffin-Siris syndrome relationship: Orphanet:317343 Orphanet:231108 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial rhabdoid tumor property_value: alternative:term "ATP-dependent helicase SMARCA4" xsd:string property_value: alternative:term "BAF190" xsd:string property_value: alternative:term "brahma protein-like 1" xsd:string property_value: alternative:term "BRG1" xsd:string property_value: alternative:term "BRM/SWI2-related gene 1" xsd:string property_value: alternative:term "FLJ39786" xsd:string property_value: alternative:term "global transcription activator homologous sequence" xsd:string property_value: alternative:term "homeotic gene regulator" xsd:string property_value: alternative:term "hSNF2b" xsd:string property_value: alternative:term "mitotic growth and transcription activator" xsd:string property_value: alternative:term "nuclear protein GRB1" xsd:string property_value: alternative:term "SNF2" xsd:string property_value: alternative:term "SNF2-BETA" xsd:string property_value: alternative:term "SNF2-like 4" xsd:string property_value: alternative:term "SNF2L4" xsd:string property_value: alternative:term "SNF2LB" xsd:string property_value: alternative:term "sucrose nonfermenting-like 4" xsd:string property_value: alternative:term "SWI2" xsd:string property_value: symbol "SMARCA4" xsd:string [Term] id: Orphanet:225368 name: keratin 6C xref: ENSEMBL:ENSG00000170465 xref: GENATLAS:KRT6C xref: HGNC:20406 xref: OMIM:612315 xref: UNIPROTKB/SWISSPROT:P48668 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2199 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epidermolytic palmoplantar keratoderma property_value: alternative:term "keratin 6E" xsd:string property_value: alternative:term "KRT6E" xsd:string property_value: symbol "KRT6C" xsd:string [Term] id: Orphanet:225372 name: thyroid hormone receptor interactor 11 xref: ENSEMBL:ENSG00000100815 xref: GENATLAS:TRIP11 xref: HGNC:12305 xref: OMIM:604505 xref: UNIPROTKB/SWISSPROT:Q15643 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93299 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Achondrogenesis type 1A property_value: alternative:term "CEV14" xsd:string property_value: alternative:term "GMAP-210" xsd:string property_value: alternative:term "Trip230" xsd:string property_value: symbol "TRIP11" xsd:string [Term] id: Orphanet:225380 name: inverted formin, FH2 and WH2 domain containing xref: ENSEMBL:ENSG00000203485 xref: GENATLAS:INF2 xref: HGNC:23791 xref: OMIM:610982 xref: UNIPROTKB/SWISSPROT:Q27J81 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93114 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant intermediate Charcot-Marie-Tooth disease type E relationship: Orphanet:317343 Orphanet:93213 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis property_value: alternative:term "C14orf151" xsd:string property_value: alternative:term "C14orf173" xsd:string property_value: alternative:term "chromosome 14 open reading frame 151" xsd:string property_value: alternative:term "chromosome 14 open reading frame 173" xsd:string property_value: alternative:term "inverted formin 2" xsd:string property_value: alternative:term "MGC13251" xsd:string property_value: symbol "INF2" xsd:string [Term] id: Orphanet:225386 name: dihydroorotate dehydrogenase (quinone) xref: ENSEMBL:ENSG00000102967 xref: GENATLAS:DHODH xref: HGNC:2867 xref: IUPHAR:2604 xref: OMIM:126064 xref: REACTOME:Q02127 xref: UNIPROTKB/SWISSPROT:Q02127 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:246 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Postaxial acrofacial dysostosis property_value: alternative:term "Dihydroorotate dehydrogenase" xsd:string property_value: symbol "DHODH" xsd:string [Term] id: Orphanet:2254 name: Pontocerebellar hypoplasia type 1 xref: ICD10:Q04.3 xref: MESH:C548069 xref: OMIM:607596 xref: OMIM:614678 xref: UMLS:C1843504 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:207012 ! Spinal muscular atrophy associated with central nervous system anomaly relationship: part_of Orphanet:98523 ! Nonsyndromic pontocerebellar hypoplasia property_value: alternative:term "Norman disease" xsd:string property_value: alternative:term "PCH1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death." xsd:string [Term] id: Orphanet:225404 name: glycoprotein VI (platelet) xref: ENSEMBL:ENSG00000088053 xref: GENATLAS:GP6 xref: HGNC:14388 xref: OMIM:605546 xref: REACTOME:Q9HCN6 xref: UNIPROTKB/SWISSPROT:Q9HCN6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98885 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bleeding diathesis due to glycoprotein VI deficiency property_value: alternative:term "GPVI" xsd:string property_value: symbol "GP6" xsd:string [Term] id: Orphanet:2255 name: Pancreatic hypoplasia - diabetes - congenital heart disease xref: OMIM:600001 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181381 ! Other rare diabetes mellitus relationship: part_of Orphanet:183625 ! Rare genetic diabetes mellitus property_value: alternative:term "Yorifuji-Okuno syndrome" xsd:string [Term] id: Orphanet:2256 name: Fibulo-ulnar hypoplasia - renal anomalies xref: ICD10:Q87.8 xref: OMIM:228940 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Saito-Kuba-Tsuruta syndrome" xsd:string [Term] id: Orphanet:225681 name: Lysosomal disease with epilepsy is_a: Orphanet:166481 ! Metabolic diseases with epilepsy [Term] id: Orphanet:225686 name: Peroxisomal disease with epilepsy is_a: Orphanet:166481 ! Metabolic diseases with epilepsy [Term] id: Orphanet:225689 name: Amino acid or protein metabolism disease with epilepsy is_a: Orphanet:166481 ! Metabolic diseases with epilepsy [Term] id: Orphanet:225692 name: Metal transport or utilization disorder with epilepsy is_a: Orphanet:166481 ! Metabolic diseases with epilepsy [Term] id: Orphanet:225696 name: Energy metabolism disorder with epilepsy is_a: Orphanet:166481 ! Metabolic diseases with epilepsy [Term] id: Orphanet:2257 name: Familial primary pulmonary hypoplasia xref: ICD10:Q33.6 xref: OMIM:265430 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:108993 ! Nonsyndromic respiratory or mediastinal malformation relationship: part_of Orphanet:182111 ! Respiratory malformation relationship: part_of Orphanet:183622 ! Genetic respiratory malformation [Term] id: Orphanet:225700 name: Mitochondrial disease with epilepsy is_a: Orphanet:225696 ! Energy metabolism disorder with epilepsy [Term] id: Orphanet:225703 name: Mitochondrial disease with peripheral neuropathy is_a: Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy [Term] id: Orphanet:225707 name: Metabolic neurotransmission anomaly with epilepsy is_a: Orphanet:166481 ! Metabolic diseases with epilepsy [Term] id: Orphanet:225710 name: Sterol metabolism disorder with epilepsy is_a: Orphanet:166481 ! Metabolic diseases with epilepsy [Term] id: Orphanet:225713 name: Other metabolic disease with epilepsy is_a: Orphanet:166481 ! Metabolic diseases with epilepsy [Term] id: Orphanet:226 name: Dihydropteridine reductase deficiency xref: ICD10:E70.1 xref: MESH:C537896 xref: OMIM:261630 xref: SNOMED CT:58256000 xref: UMLS:C0268465 xref: UMLS:C2936906 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:238583 ! Hyperphenylalaninemia property_value: alternative:term "Hyperphenylalaninemia due to dihydropteridine reductase deficiency" xsd:string property_value: alternative:term "Phenylketonuria type 2" xsd:string property_value: alternative:term "PKU type 2" xsd:string [Term] id: Orphanet:2260 name: Oligomeganephronia xref: ICD10:Q60.4 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93546 ! Nonsyndromic renal or urinary tract malformation property_value: alternative:term "Oligomeganephronic renal hypoplasia" xsd:string [Term] id: Orphanet:226013 name: tubulin, beta 3 class III xref: ENSEMBL:ENSG00000198211 xref: GENATLAS:TUBB3 xref: HGNC:20772 xref: OMIM:602661 xref: REACTOME:Q13509 xref: UNIPROTKB/SWISSPROT:Q13509 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:300570 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation relationship: Orphanet:317343 Orphanet:45358 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital fibrosis of extraocular muscles property_value: alternative:term "beta-4" xsd:string property_value: alternative:term "class III beta-tubulin" xsd:string property_value: alternative:term "TUBB4, beta-4" xsd:string property_value: alternative:term "Tubulin, beta 3" xsd:string property_value: symbol "TUBB3" xsd:string [Term] id: Orphanet:226016 name: phosphodiesterase 8B xref: ENSEMBL:ENSG00000113231 xref: GENATLAS:PDE8B xref: HGNC:8794 xref: OMIM:603390 xref: REACTOME:O95263 xref: UNIPROTKB/SWISSPROT:O95263 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:189439 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary pigmented nodular adrenocortical disease relationship: Orphanet:317343 Orphanet:228169 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant striatal neurodegeneration property_value: symbol "PDE8B" xsd:string [Term] id: Orphanet:226018 name: epithelial cell adhesion molecule xref: ENSEMBL:ENSG00000119888 xref: GENATLAS:EPCAM xref: HGNC:11529 xref: OMIM:185535 xref: UNIPROTKB/SWISSPROT:P16422 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:144 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary nonpolyposis colon cancer relationship: Orphanet:317343 Orphanet:92050 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intestinal epithelial dysplasia property_value: alternative:term "17-1A" xsd:string property_value: alternative:term "323/A3" xsd:string property_value: alternative:term "antigen identified by monoclonal antibody AUA1" xsd:string property_value: alternative:term "CD326" xsd:string property_value: alternative:term "CO-17A" xsd:string property_value: alternative:term "EGP-2" xsd:string property_value: alternative:term "EGP34" xsd:string property_value: alternative:term "EGP40" xsd:string property_value: alternative:term "Ep-CAM" xsd:string property_value: alternative:term "ESA" xsd:string property_value: alternative:term "GA733-2" xsd:string property_value: alternative:term "HEA125" xsd:string property_value: alternative:term "KS1/4" xsd:string property_value: alternative:term "KSA" xsd:string property_value: alternative:term "Ly74" xsd:string property_value: alternative:term "M4S1" xsd:string property_value: alternative:term "MH99" xsd:string property_value: alternative:term "MIC18" xsd:string property_value: alternative:term "MK-1" xsd:string property_value: alternative:term "MOC31" xsd:string property_value: alternative:term "TACST-1" xsd:string property_value: alternative:term "TACSTD1" xsd:string property_value: alternative:term "TROP1" xsd:string property_value: alternative:term "tumor-associated calcium signal transducer 1" xsd:string property_value: symbol "EPCAM" xsd:string [Term] id: Orphanet:226044 name: synaptophysin xref: ENSEMBL:ENSG00000102003 xref: GENATLAS:SYP xref: HGNC:11506 xref: OMIM:313475 xref: UNIPROTKB/SWISSPROT:P08247 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit property_value: symbol "SYP" xsd:string [Term] id: Orphanet:226047 name: chloride channel, voltage-sensitive 2 xref: ENSEMBL:ENSG00000114859 xref: GENATLAS:CLCN2 xref: HGNC:2020 xref: IUPHAR:699 xref: OMIM:600570 xref: REACTOME:P51788 xref: UNIPROTKB/SWISSPROT:P51788 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363540 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leukoencephalopathy with mild cerebellar ataxia and white matter edema relationship: Orphanet:317345 Orphanet:307 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Juvenile myoclonic epilepsy property_value: alternative:term "Chloride channel 2" xsd:string property_value: alternative:term "ClC-2" xsd:string property_value: alternative:term "CLC2" xsd:string property_value: alternative:term "EJM6" xsd:string property_value: symbol "CLCN2" xsd:string [Term] id: Orphanet:226051 name: euchromatic histone-lysine N-methyltransferase 1 xref: ENSEMBL:ENSG00000181090 xref: GENATLAS:EHMT1 xref: HGNC:24650 xref: OMIM:607001 xref: REACTOME:Q9H9B1 xref: UNIPROTKB/SWISSPROT:Q9H9B1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:261652 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kleefstra syndrome due to a point mutation relationship: Orphanet:317349 Orphanet:96147 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Kleefstra syndrome due to 9q34 microdeletion property_value: alternative:term "bA188C12.1" xsd:string property_value: alternative:term "Eu-HMTase1" xsd:string property_value: alternative:term "euchromatic histone methyltransferase 1" xsd:string property_value: alternative:term "FLJ12879" xsd:string property_value: alternative:term "KIAA1876" xsd:string property_value: alternative:term "KMT1D" xsd:string property_value: symbol "EHMT1" xsd:string [Term] id: Orphanet:226058 name: carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 xref: ENSEMBL:ENSG00000169105 xref: GENATLAS:CHST14 xref: HGNC:24464 xref: OMIM:608429 xref: REACTOME:Q8NCH0 xref: UNIPROTKB/SWISSPROT:Q8NCH0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2953 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos syndrome, musculocontractural type property_value: alternative:term "D4ST-1" xsd:string property_value: alternative:term "D4ST1" xsd:string property_value: alternative:term "dermatan 4 sulfotransferase 1" xsd:string property_value: alternative:term "HD4ST" xsd:string property_value: symbol "CHST14" xsd:string [Term] id: Orphanet:2261 name: Hypospadias - intellectual deficit, Goldblatt type xref: ICD10:Q87.8 xref: OMIM:241760 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Goldblatt-Wallis syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hypospasdias – intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails." xsd:string [Term] id: Orphanet:226144 name: CD247 molecule xref: ENSEMBL:ENSG00000198821 xref: GENATLAS:CD247 xref: HGNC:1677 xref: OMIM:186780 xref: REACTOME:P20963 xref: UNIPROTKB/SWISSPROT:P20963 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169160 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta relationship: Orphanet:317345 Orphanet:85408 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Juvenile rheumatoid factor-negative polyarthritis relationship: Orphanet:317345 Orphanet:85410 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Oligoarticular juvenile arthritis property_value: alternative:term "CD247 antigen" xsd:string property_value: alternative:term "CD3H" xsd:string property_value: alternative:term "CD3Q" xsd:string property_value: alternative:term "CD3Z" xsd:string property_value: alternative:term "CD3z antigen, zeta polypeptide (TiT3 complex)" xsd:string property_value: symbol "CD247" xsd:string [Term] id: Orphanet:226292 name: Permanent congenital hypothyroidism xref: ICD10:E03.0 xref: ICD10:E03.1 is_a: Orphanet:442 ! Congenital hypothyroidism property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH; see this term), a thyroid hormone deficiency present from birth." xsd:string [Term] id: Orphanet:226295 name: Primary congenital hypothyroidism xref: ICD10:E03.0 xref: ICD10:E03.1 is_a: Orphanet:226292 ! Permanent congenital hypothyroidism property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." xsd:string [Term] id: Orphanet:226298 name: Central congenital hypothyroidism xref: ICD10:E03.1 is_a: Orphanet:226292 ! Permanent congenital hypothyroidism property_value: alternative:term "Secondary hypothyroidism" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism (see this term) characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system." xsd:string [Term] id: Orphanet:226307 name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function xref: ICD10:E03.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:226298 ! Central congenital hypothyroidism property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary." xsd:string [Term] id: Orphanet:226310 name: Peripheral hypothyroidism is_a: Orphanet:226292 ! Permanent congenital hypothyroidism property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Peripheral hypothyroidism is a type of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism." xsd:string [Term] id: Orphanet:226313 name: Congenital hypothyroidism due to maternal intake of antithyroid drugs xref: ICD10:P72.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:238696 ! Transient congenital hypothyroidism due to maternal factor [Term] id: Orphanet:226316 name: Genetic transient congenital hypothyroidism xref: ICD10:P72.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:238699 ! Transient congenital hypothyroidism due to neonatal factor relationship: part_of Orphanet:442 ! Congenital hypothyroidism [Term] id: Orphanet:2266 name: Hypotrichosis-intellectual deficit, Lopes type is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Lopes-Marques de Faria syndrome" xsd:string [Term] id: Orphanet:2267 name: Ichthyosis-cheek-eyebrow syndrome xref: MESH:C536084 xref: OMIM:146720 xref: UMLS:C1840283 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:281244 ! Autosomal ichthyosis syndrome with other associated signs property_value: alternative:term "Sidransky-Feinstein-Goodman syndrome" xsd:string [Term] id: Orphanet:2268 name: ICF syndrome xref: ICD10:D84.8 xref: OMIM:242860 xref: OMIM:614069 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:169346 ! DNA repair defect other than combined T-cell and B-cell immunodeficiencies relationship: part_of Orphanet:229720 ! Syndromic agammaglobulinemia property_value: alternative:term "Immunodeficiency - centromeric instability - facial anomalies" xsd:string [Term] id: Orphanet:2269 name: Ichthyosis - alopecia - eclabion - ectropion - intellectual deficit xref: OMIM:242510 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:281238 ! Autosomal ichthyosis syndrome with prominent neurologics signs relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Jagell-Holmgren-Hofer syndrome" xsd:string [Term] id: Orphanet:227 name: Diphallia xref: ICD10:Q55.6 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182121 ! Nonsyndromic urogenital tract malformation of male [Term] id: Orphanet:227053 name: solute carrier family 52 (riboflavin transporter), member 3 xref: ENSEMBL:ENSG00000101276 xref: GENATLAS:C20orf54 xref: HGNC:16187 xref: OMIM:613350 xref: REACTOME:Q9NQ40 xref: UNIPROTKB/SWISSPROT:Q9NQ40 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:97229 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Riboflavin transporter deficiency property_value: alternative:term "bA371L19.1" xsd:string property_value: alternative:term "C20orf54" xsd:string property_value: alternative:term "Chromosome 20 open reading frame 54" xsd:string property_value: alternative:term "hRFT2" xsd:string property_value: alternative:term "Hypothetical protein LOC113278" xsd:string property_value: alternative:term "RFVT3" xsd:string property_value: alternative:term "Solute carrier family 52, riboflavin transporter, member 3" xsd:string property_value: symbol "SLC52A3" xsd:string [Term] id: Orphanet:227058 name: feline leukemia virus subgroup C cellular receptor family, member 2 xref: ENSEMBL:ENSG00000119686 xref: GENATLAS:FLVCR2 xref: HGNC:20105 xref: OMIM:610865 xref: UNIPROTKB/SWISSPROT:Q9UPI3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:221126 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fowler syndrome property_value: alternative:term "C14orf58" xsd:string property_value: alternative:term "chromosome 14 open reading frame 58" xsd:string property_value: alternative:term "feline leukemia virus subgroup C cellular receptor 2" xsd:string property_value: alternative:term "FLJ20371" xsd:string property_value: alternative:term "MFSD7C" xsd:string property_value: symbol "FLVCR2" xsd:string [Term] id: Orphanet:227063 name: parathyroid hormone-like hormone xref: ENSEMBL:ENSG00000087494 xref: GENATLAS:PTHLH xref: HGNC:9607 xref: OMIM:168470 xref: REACTOME:P12272 xref: UNIPROTKB/SWISSPROT:P12272 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93387 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brachydactyly type E property_value: alternative:term "HHM" xsd:string property_value: alternative:term "osteostatin" xsd:string property_value: alternative:term "parathyroid hormone-like hormone preproprotein" xsd:string property_value: alternative:term "parathyroid hormone-related protein preproprotein" xsd:string property_value: alternative:term "PLP" xsd:string property_value: alternative:term "PTHR" xsd:string property_value: alternative:term "PTHRP" xsd:string property_value: symbol "PTHLH" xsd:string [Term] id: Orphanet:227071 name: taperin xref: ENSEMBL:ENSG00000176058 xref: GENATLAS:TPRN xref: HGNC:26894 xref: OMIM:613354 xref: UNIPROTKB/SWISSPROT:Q4KMQ1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "C9orf75" xsd:string property_value: alternative:term "chromosome 9 open reading frame 75" xsd:string property_value: alternative:term "deafness, autosomal recessive 79" xsd:string property_value: alternative:term "DFNB79" xsd:string property_value: alternative:term "FLJ90254" xsd:string property_value: symbol "TPRN" xsd:string [Term] id: Orphanet:227077 name: myosin binding protein C, slow type xref: ENSEMBL:ENSG00000196091 xref: GENATLAS:MYBPC1 xref: HGNC:7549 xref: OMIM:160794 xref: REACTOME:Q00872 xref: UNIPROTKB/SWISSPROT:Q00872 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Digitotalar dysmorphism relationship: Orphanet:317343 Orphanet:137783 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lethal congenital contracture syndrome type 3 property_value: alternative:term "myosin-binding protein C, slow-type" xsd:string property_value: symbol "MYBPC1" xsd:string [Term] id: Orphanet:227079 name: transmembrane protein 127 xref: ENSEMBL:ENSG00000135956 xref: GENATLAS:TMEM127 xref: HGNC:26038 xref: OMIM:613403 xref: UNIPROTKB/SWISSPROT:O75204 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:29072 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary pheochromocytoma-paraganglioma property_value: alternative:term "FLJ20507" xsd:string property_value: alternative:term "FLJ22257" xsd:string property_value: symbol "TMEM127" xsd:string [Term] id: Orphanet:227083 name: X-prolyl aminopeptidase (aminopeptidase P) 3, putative xref: ENSEMBL:ENSG00000196236 xref: GENATLAS:XPNPEP3 xref: HGNC:28052 xref: OMIM:613553 xref: UNIPROTKB/SWISSPROT:Q9NQH7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93589 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Late-onset autosomal recessive medullary cystic kidney disease property_value: alternative:term "APP3" xsd:string property_value: alternative:term "NPHPL1" xsd:string property_value: symbol "XPNPEP3" xsd:string [Term] id: Orphanet:227086 name: polymerase I and transcript release factor xref: ENSEMBL:ENSG00000177469 xref: GENATLAS:PTRF xref: HGNC:9688 xref: OMIM:603198 xref: REACTOME:Q6NZI2 xref: UNIPROTKB/SWISSPROT:Q6NZI2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:228429 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized congenital lipodystrophy with myopathy property_value: alternative:term "cavin-1" xsd:string property_value: alternative:term "CAVIN1" xsd:string property_value: symbol "PTRF" xsd:string [Term] id: Orphanet:227089 name: VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog xref: ENSEMBL:ENSG00000151445 xref: GENATLAS:VIPAR xref: HGNC:20347 xref: OMIM:613401 xref: UNIPROTKB/SWISSPROT:Q9H9C1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2697 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Arthrogryposis - renal dysfunction - cholestasis property_value: alternative:term "C14orf133" xsd:string property_value: alternative:term "chromosome 14 open reading frame 133" xsd:string property_value: alternative:term "hSPE-39" xsd:string property_value: alternative:term "SPE-39" xsd:string property_value: alternative:term "SPE39" xsd:string property_value: alternative:term "VIPAR" xsd:string property_value: alternative:term "VPS16B" xsd:string property_value: alternative:term "VPS33B interacting protein, apical-basolateral polarity regulator" xsd:string property_value: symbol "VIPAS39" xsd:string [Term] id: Orphanet:227095 name: serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) xref: ENSEMBL:ENSG00000149257 xref: GENATLAS:SERPINH1 xref: HGNC:1546 xref: OMIM:600943 xref: REACTOME:P50454 xref: UNIPROTKB/SWISSPROT:P50454 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:216812 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 3 property_value: alternative:term "CBP1" xsd:string property_value: alternative:term "CBP2" xsd:string property_value: alternative:term "colligen" xsd:string property_value: alternative:term "HSP47" xsd:string property_value: alternative:term "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)" xsd:string property_value: alternative:term "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2" xsd:string property_value: alternative:term "SERPINH2" xsd:string property_value: symbol "SERPINH1" xsd:string [Term] id: Orphanet:2271 name: Congenital ichthyosis - microcephalus - tetraplegia is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:281238 ! Autosomal ichthyosis syndrome with prominent neurologics signs property_value: alternative:term "Congenital ichthyosis - microcephalus - quadriplegia" xsd:string [Term] id: Orphanet:227102 name: syntaxin binding protein 2 xref: ENSEMBL:ENSG00000076944 xref: GENATLAS:STXBP2 xref: HGNC:11445 xref: OMIM:601717 xref: UNIPROTKB/SWISSPROT:Q15833 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:540 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hemophagocytic lymphohistiocytosis property_value: alternative:term "Hunc18b" xsd:string property_value: alternative:term "UNC18B" xsd:string property_value: symbol "STXBP2" xsd:string [Term] id: Orphanet:2272 name: Ichthyosis - oral and digital anomalies xref: OMIM:258840 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:281244 ! Autosomal ichthyosis syndrome with other associated signs relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Clayton Smith-Donnai syndrome" xsd:string [Term] id: Orphanet:2273 name: Ichthyosis follicularis - alopecia - photophobia xref: MESH:C536085 xref: OMIM:308205 xref: UMLS:C1839988 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:281210 ! X-linked ichthyosis syndrome relationship: part_of Orphanet:79364 ! Alopecia property_value: alternative:term "Ichthyosis follicularis - atrichia - photophobia" xsd:string property_value: alternative:term "IFAP syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth." xsd:string [Term] id: Orphanet:227384 name: B lymphoid tyrosine kinase xref: ENSEMBL:ENSG00000136573 xref: GENATLAS:BLK xref: HGNC:1057 xref: IUPHAR:1940 xref: OMIM:191305 xref: REACTOME:P51451 xref: UNIPROTKB/SWISSPROT:P51451 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:552 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MODY syndrome property_value: alternative:term "MGC10442" xsd:string property_value: symbol "BLK" xsd:string [Term] id: Orphanet:227387 name: heat shock 27kDa protein 3 xref: ENSEMBL:ENSG00000169271 xref: GENATLAS:HSPB3 xref: HGNC:5248 xref: OMIM:604624 xref: UNIPROTKB/SWISSPROT:Q12988 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:139525 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Distal hereditary motor neuropathy type 2 property_value: alternative:term "heat shock 27kD protein 3" xsd:string property_value: alternative:term "HSPL27" xsd:string property_value: symbol "HSPB3" xsd:string [Term] id: Orphanet:227390 name: solute carrier family 34 (type II sodium/phosphate contransporter), member 1 xref: ENSEMBL:ENSG00000131183 xref: GENATLAS:SLC34A1 xref: HGNC:11019 xref: OMIM:182309 xref: REACTOME:Q06495 xref: UNIPROTKB/SWISSPROT:Q06495 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244305 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dominant hypophosphatemia with nephrolithiasis or osteoporosis relationship: Orphanet:317343 Orphanet:3337 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary Fanconi syndrome property_value: alternative:term "Na+-phosphate cotransporter type II" xsd:string property_value: alternative:term "NAPI-3" xsd:string property_value: alternative:term "NPT2" xsd:string property_value: alternative:term "NPTIIa" xsd:string property_value: alternative:term "SLC11" xsd:string property_value: alternative:term "SLC17A2" xsd:string property_value: alternative:term "sodium/phosphate co-transporter" xsd:string property_value: alternative:term "solute carrier family 17 (sodium phosphate), member 2" xsd:string property_value: alternative:term "Solute carrier family 34 (sodium phosphate), member 1" xsd:string property_value: symbol "SLC34A1" xsd:string [Term] id: Orphanet:227397 name: protein tyrosine phosphatase, receptor type, Q xref: ENSEMBL:ENSG00000139304 xref: GENATLAS:PTPRQ xref: HGNC:9679 xref: OMIM:603317 xref: UNIPROTKB/SWISSPROT:Q9UMZ3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "deafness, autosomal recessive 84" xsd:string property_value: alternative:term "DFNB84" xsd:string property_value: symbol "PTPRQ" xsd:string [Term] id: Orphanet:2274 name: Ichthyosis - hepatosplenomegaly - cerebellar degeneration xref: ICD10:Q87.8 xref: OMIM:242520 xref: SNOMED CT:403779009 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183518 ! Rare hereditary ataxia relationship: part_of Orphanet:281244 ! Autosomal ichthyosis syndrome with other associated signs property_value: alternative:term "Dykes-Markes-Harper syndrome" xsd:string [Term] id: Orphanet:227401 name: unc-119 homolog (C. elegans) xref: ENSEMBL:ENSG00000109103 xref: GENATLAS:UNC119 xref: HGNC:12565 xref: OMIM:604011 xref: UNIPROTKB/SWISSPROT:Q13432 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone rod dystrophy relationship: Orphanet:317343 Orphanet:228000 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic CD4 lymphocytopenia property_value: alternative:term "HRG4" xsd:string property_value: alternative:term "POC7" xsd:string property_value: alternative:term "POC7 centriolar protein homolog A (Chlamydomonas)" xsd:string property_value: alternative:term "POC7A" xsd:string property_value: alternative:term "unc119 (C.elegans) homolog" xsd:string property_value: symbol "UNC119" xsd:string [Term] id: Orphanet:227510 name: Multiple system atrophy, cerebellar type xref: ICD10:G90.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102 ! Multiple system atrophy relationship: part_of Orphanet:247239 ! Non-hereditary degenerative ataxia property_value: alternative:term "MSA, cerebellar type" xsd:string property_value: alternative:term "MSA-c" xsd:string property_value: alternative:term "Sporadic olivopontocerebellar atrophy type 1" xsd:string property_value: alternative:term "Sporadic OPCA type 1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA; see this term) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria)." xsd:string [Term] id: Orphanet:227535 name: Hereditary breast cancer xref: ICD10:C50 xref: OMIM:114480 xref: OMIM:600048 xref: OMIM:604370 xref: OMIM:605365 xref: OMIM:612555 xref: OMIM:613399 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:180257 ! Rare malignant breast tumor relationship: part_of Orphanet:183734 ! Genetic gynecological tumor property_value: alternative:term "Familial breast cancer" xsd:string property_value: alternative:term "Familial breast carcinoma" xsd:string property_value: alternative:term "Hereditary breast carcinoma" xsd:string [Term] id: Orphanet:227786 name: Familial flecked retinopathy xref: ICD10:H35.5 is_a: Orphanet:98664 ! Genetic macular dystrophy property_value: alternative:term "Hereditary flecked retinopathy" xsd:string [Term] id: Orphanet:227796 name: Fundus albipunctatus xref: ICD10:H35.5 xref: OMIM:136880 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:227786 ! Familial flecked retinopathy [Term] id: Orphanet:2278 name: Ichthyosis - intellectual deficit - dwarfism - renal impairment xref: MESH:C536274 xref: OMIM:242530 xref: UMLS:C1855787 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:281244 ! Autosomal ichthyosis syndrome with other associated signs relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Passwell-Goodman-Siprkowski syndrome" xsd:string [Term] id: Orphanet:227972 name: Toxic oil syndrome xref: MEDDRA:10051222 xref: SNOMED CT:239910001 xref: UMLS:C0409998 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:108999 ! Rare intoxication [Term] id: Orphanet:227976 name: Autosomal recessive optic atrophy, OPA7 type xref: ICD10:H47.2 xref: OMIM:612989 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254822 ! Mitochondrial oxidative phosphorylation disorder with no known mechanism relationship: part_of Orphanet:98676 ! Autosomal recessive isolated optic atrophy [Term] id: Orphanet:227982 name: Autoimmune polyendocrinopathy type 3 xref: ICD10:E31.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:177101 ! Rare adult hypothyroidism relationship: part_of Orphanet:181371 ! Rare insulin-dependent diabetes mellitus relationship: part_of Orphanet:282196 ! Autoimmune polyendocrinopathy property_value: alternative:term "APS type 3" xsd:string property_value: alternative:term "APS3" xsd:string property_value: alternative:term "Autoimmune polyendocrine syndrome type 3" xsd:string property_value: alternative:term "Autoimmune polyglandular syndrome type 3" xsd:string [Term] id: Orphanet:227990 name: Autoimmune polyendocrinopathy type 4 xref: ICD10:E31.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:282196 ! Autoimmune polyendocrinopathy property_value: alternative:term "APS type 4" xsd:string property_value: alternative:term "APS4" xsd:string property_value: alternative:term "Autoimmune polyendocrine syndrome type 4" xsd:string property_value: alternative:term "Autoimmune polyglandular syndrome type 4" xsd:string [Term] id: Orphanet:228000 name: Idiopathic CD4 lymphocytopenia xref: OMIM:615518 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183710 ! Genetic susceptibility to infections due to particular pathogens [Term] id: Orphanet:228003 name: Severe combined immunodeficiency due to CORO1A deficiency xref: ICD10:D81.2 xref: OMIM:615401 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:317416 ! T-B+ severe combined immunodeficiency property_value: alternative:term "SCID due to CORO1A deficiency" xsd:string property_value: alternative:term "SCID due to coronin-1A deficiency" xsd:string property_value: alternative:term "Severe combined immunodeficiency due to coronin-1A deficiency" xsd:string [Term] id: Orphanet:228012 name: Progressive sensorineural hearing loss - hypertrophic cardiomyopathy xref: OMIM:606346 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease relationship: part_of Orphanet:217595 ! Syndrome associated with hypertrophic cardiomyopathy relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Progressive neurosensory deafness - hypertrophic cardiomyopathy" xsd:string property_value: alternative:term "Progressive neurosensory hearing loss - hypertrophic cardiomyopathy" xsd:string property_value: alternative:term "Progressive sensorineural deafness - hypertrophic cardiomyopathy" xsd:string [Term] id: Orphanet:228113 name: Anal fistula xref: ICD10:K60.3 xref: MEDDRA:10002156 xref: UMLS:C0205929 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:557 ! Isolated anorectal malformation [Term] id: Orphanet:228116 name: Hughes-Stovin syndrome xref: ICD10:M35.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:156140 ! Predominantly large-vessel vasculitis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behçet's disease (BD; see this term). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis." xsd:string [Term] id: Orphanet:228119 name: Fusariosis xref: ICD10:B48.7 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease property_value: alternative:term "Fusarium infection" xsd:string [Term] id: Orphanet:228123 name: Coccidioidomycosis xref: ICD10:B38 xref: MEDDRA:10009825 xref: MESH:D003047 xref: SNOMED CT:442543009 xref: SNOMED CT:60826002 xref: UMLS:C0009186 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163588 ! Rare parasitic disease property_value: alternative:term "California disease" xsd:string property_value: alternative:term "Coccidioides infection" xsd:string property_value: alternative:term "Desert fever" xsd:string property_value: alternative:term "Desert rheumatism" xsd:string property_value: alternative:term "San Joaquin valley fever" xsd:string property_value: alternative:term "Valley fever" xsd:string [Term] id: Orphanet:228140 name: Idiopathic ventricular fibrillation, not Brugada type xref: ICD10:I49.0 xref: OMIM:603829 xref: OMIM:612956 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease property_value: alternative:term "Familial paroxysmal ventricular fibrillation, not Brugada type" xsd:string [Term] id: Orphanet:228145 name: Multiple sclerosis variant is_a: Orphanet:182064 ! Rare neuroinflammatory or neuroimmunological disease [Term] id: Orphanet:228157 name: Marburg acute multiple sclerosis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:228145 ! Multiple sclerosis variant property_value: alternative:term "Acute multiple sclerosis, Marburg type" xsd:string property_value: alternative:term "Acute multiple sclerosis, Marburg variant" xsd:string [Term] id: Orphanet:228165 name: Baló concentric sclerosis xref: ICD10:G37.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:228145 ! Multiple sclerosis variant property_value: alternative:term "Concentric demyelination" xsd:string [Term] id: Orphanet:228169 name: Autosomal dominant striatal neurodegeneration xref: OMIM:609161 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:306666 ! Rare parkinsonian syndrome due to neurodegenerative disease relationship: part_of Orphanet:307055 ! Rare parkinsonian syndrome due to genetic neurodegenerative disease property_value: alternative:term "ADSD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity." xsd:string [Term] id: Orphanet:228174 name: Autosomal dominant Charcot-Marie-Tooth disease type 2N xref: ICD10:G60.0 xref: OMIM:613287 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:64746 ! Autosomal dominant Charcot-Marie-Tooth disease type 2 property_value: alternative:term "CMT2N" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." xsd:string [Term] id: Orphanet:228179 name: Autosomal dominant Charcot-Marie-Tooth disease type 2M xref: ICD10:G60.0 xref: OMIM:606482 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:64746 ! Autosomal dominant Charcot-Marie-Tooth disease type 2 property_value: alternative:term "CMT2M" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia." xsd:string [Term] id: Orphanet:228184 name: Heart-hand syndrome xref: ICD10:Q87.2 is_a: Orphanet:109009 ! Syndrome with limb malformations as a major feature is_a: Orphanet:364568 ! Dysostosis with limb anomaly as a major feature property_value: alternative:term "Atriodigital dysplasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies (see these terms)." xsd:string [Term] id: Orphanet:228190 name: Patent ductus arteriosus - bicuspid aortic valve - hand anomalies xref: ICD10:Q87.2 xref: OMIM:604381 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:156532 ! Rare syndrome with cardiac malformations relationship: part_of Orphanet:228184 ! Heart-hand syndrome property_value: alternative:term "Patent arterial duct - bicuspid aortic valve - hand anomalies" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant." xsd:string [Term] id: Orphanet:2282 name: Dysmorphism - short stature - deafness - disorder of sex development xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:325638 ! Syndrome with disorder of sex development of gynecological interest relationship: part_of Orphanet:98087 ! Syndrome with 46,XY disorder of sex development property_value: alternative:term "Dysmorphism - short stature - deafness - pseudohermaphroditism" xsd:string [Term] id: Orphanet:228215 name: Genetic dermis elastic tissue disorder is_a: Orphanet:183472 ! Genetic dermis disorder is_a: Orphanet:79378 ! Dermis elastic tissue disorder [Term] id: Orphanet:228218 name: Acquired dermis elastic tissue disorder is_a: Orphanet:79378 ! Dermis elastic tissue disorder [Term] id: Orphanet:228221 name: Acquired dermis elastic tissue disorder with decreased elastic tissue is_a: Orphanet:228218 ! Acquired dermis elastic tissue disorder [Term] id: Orphanet:228224 name: Acquired dermis elastic tissue disorder with increased elastic tissue is_a: Orphanet:228218 ! Acquired dermis elastic tissue disorder [Term] id: Orphanet:228227 name: Late-onset focal dermal elastosis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:228224 ! Acquired dermis elastic tissue disorder with increased elastic tissue property_value: alternative:term "Pseudoxanthoma-like late-onset focal dermal elastosis" xsd:string property_value: alternative:term "PXE-like late-onset focal dermal elastosis" xsd:string [Term] id: Orphanet:228236 name: Linear focal dermal elastosis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:228224 ! Acquired dermis elastic tissue disorder with increased elastic tissue property_value: alternative:term "Elastotic striae" xsd:string [Term] id: Orphanet:228240 name: Elastoderma xref: SNOMED CT:238832003 xref: UMLS:C0406555 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:228224 ! Acquired dermis elastic tissue disorder with increased elastic tissue [Term] id: Orphanet:228243 name: Elastofibroma dorsi is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:228224 ! Acquired dermis elastic tissue disorder with increased elastic tissue [Term] id: Orphanet:228247 name: Acquired pseudoxanthoma elasticum xref: SNOMED CT:403401007 xref: UMLS:C1274759 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:228224 ! Acquired dermis elastic tissue disorder with increased elastic tissue property_value: alternative:term "Acquired Gronblad-Strandberg-Touraine syndrome" xsd:string property_value: alternative:term "Acquired PXE" xsd:string [Term] id: Orphanet:228254 name: Elastoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:228224 ! Acquired dermis elastic tissue disorder with increased elastic tissue property_value: alternative:term "Juvenile elastoma without osteopoikilosis" xsd:string property_value: alternative:term "Nevus elasticus" xsd:string property_value: alternative:term "Weidman juvenile elastoma" xsd:string [Term] id: Orphanet:228264 name: Papular elastorrhexis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:228221 ! Acquired dermis elastic tissue disorder with decreased elastic tissue property_value: alternative:term "Disseminated nevus anelasticus" xsd:string property_value: alternative:term "Eruptive collagenoma" xsd:string property_value: alternative:term "Nevus anelasticus" xsd:string [Term] id: Orphanet:228272 name: Primary anetoderma xref: ICD10:L90.1 xref: ICD10:L90.2 xref: SNOMED CT:238829001 xref: UMLS:C0406550 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:228221 ! Acquired dermis elastic tissue disorder with decreased elastic tissue property_value: alternative:term "Primary macular atrophy" xsd:string [Term] id: Orphanet:228277 name: Familial anetoderma xref: ICD10:L90.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:228215 ! Genetic dermis elastic tissue disorder property_value: alternative:term "Hereditary anetoderma" xsd:string property_value: alternative:term "Hereditary macular atrophy" xsd:string [Term] id: Orphanet:228285 name: Acquired cutis laxa xref: SNOMED CT:19726003 xref: UMLS:C0406549 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:228221 ! Acquired dermis elastic tissue disorder with decreased elastic tissue property_value: alternative:term "Cutis laxa acquisita" xsd:string [Term] id: Orphanet:228290 name: White fibrous papulosis of the neck is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:228221 ! Acquired dermis elastic tissue disorder with decreased elastic tissue [Term] id: Orphanet:228293 name: Pseudoxanthoma elasticum-like papillary dermal elastocytosis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:228221 ! Acquired dermis elastic tissue disorder with decreased elastic tissue property_value: alternative:term "PXE-like papillary dermal elastocytosis" xsd:string [Term] id: Orphanet:228299 name: Mid-dermal elastolysis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:228221 ! Acquired dermis elastic tissue disorder with decreased elastic tissue [Term] id: Orphanet:228302 name: Carnitine palmitoyl transferase II deficiency, myopathic form xref: ICD10:E71.3 xref: OMIM:255110 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:157 ! Carnitine palmitoyl transferase II deficiency property_value: alternative:term "Carnitine palmitoyl transferase deficiency type 2, adult-onset form" xsd:string property_value: alternative:term "Carnitine palmitoyl transferase deficiency type 2, myopathic form" xsd:string property_value: alternative:term "Carnitine palmitoyl transferase II deficiency, adult-onset form" xsd:string property_value: alternative:term "CPT2, adult-onset form" xsd:string property_value: alternative:term "CPT2, myopathic form" xsd:string property_value: alternative:term "CPTII, adult-onset form" xsd:string property_value: alternative:term "CPTII, myopathic form" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term)." xsd:string [Term] id: Orphanet:228305 name: Carnitine palmitoyl transferase II deficiency, severe infantile form xref: ICD10:E71.3 xref: OMIM:600649 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:157 ! Carnitine palmitoyl transferase II deficiency property_value: alternative:term "Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form" xsd:string property_value: alternative:term "Carnitine palmitoyl transferase deficiency type 2, severe infantile form" xsd:string property_value: alternative:term "Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form" xsd:string property_value: alternative:term "CPT2, hepatocardiomuscular form" xsd:string property_value: alternative:term "CPT2, severe infantile form" xsd:string property_value: alternative:term "CPTII, hepatocardiomuscular form" xsd:string property_value: alternative:term "CPTII, severe infantile form" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease." xsd:string [Term] id: Orphanet:228308 name: Carnitine palmitoyl transferase II deficiency, neonatal form xref: ICD10:E71.3 xref: OMIM:608836 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:157 ! Carnitine palmitoyl transferase II deficiency property_value: alternative:term "Carnitine palmitoyl transferase deficiency type 2, lethal systemic form" xsd:string property_value: alternative:term "Carnitine palmitoyl transferase deficiency type 2, neonatal form" xsd:string property_value: alternative:term "Carnitine palmitoyl transferase II deficiency, lethal systemic form" xsd:string property_value: alternative:term "CPT2, lethal systemic form" xsd:string property_value: alternative:term "CPT2, neonatal form" xsd:string property_value: alternative:term "CPTII, lethal systemic form" xsd:string property_value: alternative:term "CPTII, neonatal form" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure." xsd:string [Term] id: Orphanet:228312 name: Autoimmune hemolytic anemia, cold type xref: ICD10:D59.1 xref: SNOMED CT:398937006 is_a: Orphanet:98375 ! Autoimmune hemolytic anemia property_value: alternative:term "cAHA" xsd:string property_value: alternative:term "cAIHA" xsd:string property_value: alternative:term "Cold AIHA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH; see these terms)." xsd:string [Term] id: Orphanet:228315 name: Idiopathic hypersomnia with long sleep time xref: ICD10:F51.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:33208 ! Idiopathic hypersomnia [Term] id: Orphanet:228318 name: Idiopathic hypersomnia without long sleep time xref: ICD10:F51.1 xref: SNOMED CT:442292004 xref: UMLS:C1561855 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:33208 ! Idiopathic hypersomnia [Term] id: Orphanet:228329 name: CLN1 disease xref: ICD10:E75.4 xref: OMIM:256730 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:168491 ! Late infantile neuronal ceroid lipofuscinosis relationship: part_of Orphanet:79262 ! Adult neuronal ceroid lipofuscinosis relationship: part_of Orphanet:79263 ! Infantile neuronal ceroid lipofuscinosis relationship: part_of Orphanet:79264 ! Juvenile neuronal ceroid lipofuscinosis [Term] id: Orphanet:228337 name: CLN10 disease xref: ICD10:E75.4 xref: OMIM:610127 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:168486 ! Congenital neuronal ceroid lipofuscinosis relationship: part_of Orphanet:168491 ! Late infantile neuronal ceroid lipofuscinosis relationship: part_of Orphanet:79262 ! Adult neuronal ceroid lipofuscinosis relationship: part_of Orphanet:79264 ! Juvenile neuronal ceroid lipofuscinosis property_value: alternative:term "Cathepsin D deficiency" xsd:string [Term] id: Orphanet:228340 name: CLN4A disease xref: ICD10:E75.4 xref: OMIM:204300 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:79262 ! Adult neuronal ceroid lipofuscinosis [Term] id: Orphanet:228343 name: CLN4B disease xref: ICD10:E75.4 xref: OMIM:162350 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:79262 ! Adult neuronal ceroid lipofuscinosis [Term] id: Orphanet:228346 name: CLN3 disease xref: ICD10:E75.4 xref: OMIM:204200 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:79264 ! Juvenile neuronal ceroid lipofuscinosis [Term] id: Orphanet:228349 name: CLN2 disease xref: ICD10:E75.4 xref: OMIM:204500 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:168491 ! Late infantile neuronal ceroid lipofuscinosis relationship: part_of Orphanet:79264 ! Juvenile neuronal ceroid lipofuscinosis [Term] id: Orphanet:228354 name: CLN8 disease xref: ICD10:E75.4 xref: OMIM:600143 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:168491 ! Late infantile neuronal ceroid lipofuscinosis relationship: part_of Orphanet:79264 ! Juvenile neuronal ceroid lipofuscinosis [Term] id: Orphanet:228357 name: CLN9 disease xref: ICD10:E75.4 xref: OMIM:609055 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:79264 ! Juvenile neuronal ceroid lipofuscinosis [Term] id: Orphanet:228360 name: CLN5 disease xref: ICD10:E75.4 xref: OMIM:256731 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:168491 ! Late infantile neuronal ceroid lipofuscinosis [Term] id: Orphanet:228363 name: CLN6 disease xref: ICD10:E75.4 xref: OMIM:601780 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:168491 ! Late infantile neuronal ceroid lipofuscinosis relationship: part_of Orphanet:79262 ! Adult neuronal ceroid lipofuscinosis [Term] id: Orphanet:228366 name: CLN7 disease xref: ICD10:E75.4 xref: OMIM:610951 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:168491 ! Late infantile neuronal ceroid lipofuscinosis [Term] id: Orphanet:228371 name: Foodborne botulism xref: ICD10:A05.1 xref: SNOMED CT:398523009 xref: UMLS:C1739094 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:1267 ! Botulism property_value: alternative:term "Intoxication botulism" xsd:string [Term] id: Orphanet:228374 name: Severe early-onset axonal neuropathy due to NEFL deficiency xref: ICD10:G60.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:91024 ! Autosomal recessive axonal Charcot-Marie-Tooth disease type 2 property_value: alternative:term "Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency" xsd:string [Term] id: Orphanet:228379 name: Virus-associated trichodysplasia spinulosa is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:163585 ! Rare viral disease relationship: part_of Orphanet:90077 ! Other acquired skin disease property_value: alternative:term "Cyclosporine-induced folliculodystrofy" xsd:string property_value: alternative:term "Pilomatrix dysplasia" xsd:string property_value: alternative:term "Trichodysplasia spinulosa" xsd:string property_value: alternative:term "TS" xsd:string property_value: alternative:term "VATS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients." xsd:string [Term] id: Orphanet:228384 name: 5q14.3 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:613443 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262038 ! Partial deletion of the long arm of chromosome 5 property_value: alternative:term "Del(5)(q14.3)" xsd:string property_value: alternative:term "Monosomy 5q14.3" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy." xsd:string [Term] id: Orphanet:228387 name: Spondylo-megaepiphyseal-metaphyseal dysplasia xref: ICD10:Q77.7 xref: OMIM:613330 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia [Term] id: Orphanet:228390 name: Frontonasal dysplasia with alopecia and genital anomaly xref: ICD10:Q87.0 xref: OMIM:613451 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183542 ! Genetic cranial malformation relationship: part_of Orphanet:79364 ! Alopecia relationship: part_of Orphanet:93453 ! Dysostosis with predominant craniofacial involvement relationship: part_of Orphanet:98038 ! Cranial malformation property_value: alternative:term "ALX4-related FNDAG" xsd:string property_value: alternative:term "Craniofrontonasal dysplasia with alopecia and hypogonadism" xsd:string property_value: alternative:term "Frontonasal dysplasia with alopecia and genital abnomality" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." xsd:string [Term] id: Orphanet:228396 name: Ptosis - upper ocular movement limitation - absence of lacrimal punctum xref: ICD10:Q87.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98578 ! Ptosis relationship: part_of Orphanet:98605 ! Excretory apparatus of the lacrimal system anomaly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism." xsd:string [Term] id: Orphanet:228399 name: 8q12 microduplication syndrome xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262896 ! Partial duplication of the long arm of chromosome 8 property_value: alternative:term "Dup(8)(q12)" xsd:string property_value: alternative:term "Trisomy 8q12" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term)." xsd:string [Term] id: Orphanet:228402 name: 2q23.1 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:156200 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262010 ! Partial deletion of the long arm of chromosome 2 property_value: alternative:term "Del(2)(q23.1)" xsd:string property_value: alternative:term "Monosomy 2q23.1" xsd:string property_value: alternative:term "Pseudo-Angelman syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures." xsd:string [Term] id: Orphanet:228407 name: TMCO1 defect syndrome xref: ICD10:Q87.0 xref: OMIM:614132 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "TMCO1 defect syndrome is a recently described syndrome characterized by distinctive craniofacial dysmorphism, skeletal anomalies and intellectual deficit." xsd:string [Term] id: Orphanet:228410 name: Polyvalvular heart disease syndrome xref: ICD10:Q87.8 xref: OMIM:157700 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:139030 ! Malformation syndrome with connective tissue involvement relationship: part_of Orphanet:156532 ! Rare syndrome with cardiac malformations relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "PHD syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit." xsd:string [Term] id: Orphanet:228415 name: 5q35 microduplication syndrome xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262869 ! Partial trisomy of the long arm of chromosome 5 property_value: alternative:term "Dup(5)(q35)" xsd:string property_value: alternative:term "Trisomy 5q35" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation." xsd:string [Term] id: Orphanet:228418 name: Microcephaly - seizures - developmental delay xref: OMIM:613402 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:166472 ! Monogenic disease with epilepsy relationship: part_of Orphanet:269528 ! Syndrome with microcephaly as major feature property_value: alternative:term "MCSZ" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Microcephaly - seizures - developmental delay (MCSZ) is a recently described syndrome characterized by microcephaly, early-onset and intractable seizures, developmental delay and variable behavioral problems, especially hyperactivity." xsd:string [Term] id: Orphanet:228423 name: Monocytopenia with susceptibility to infections xref: OMIM:614172 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183710 ! Genetic susceptibility to infections due to particular pathogens property_value: alternative:term "Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections" xsd:string property_value: alternative:term "Dentritic cell, monocyte, B and NK lymphoid deficiency" xsd:string property_value: alternative:term "Monocyte - B - natural killer - dendritic cell deficiency" xsd:string property_value: alternative:term "Monocytopenia and mycobacterial infection syndrome" xsd:string property_value: alternative:term "MonoMAC" xsd:string [Term] id: Orphanet:228426 name: Syndromic multisystem autoimmune disease due to Itch deficiency xref: ICD10:M32 xref: OMIM:613385 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101944 ! Rare pulmonary disease relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:156610 ! Rare genetic respiratory disease relationship: part_of Orphanet:169355 ! Immunodeficiency syndrome with autoimmunity relationship: part_of Orphanet:182228 ! Systemic autoimmune disease relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:363300 ! Genetic intractable diarrhea of infancy relationship: part_of Orphanet:73014 ! Intractable diarrhea of infancy [Term] id: Orphanet:228429 name: Generalized congenital lipodystrophy with myopathy xref: ICD10:E88.1 xref: ICD10:G71.0 xref: OMIM:613327 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease relationship: part_of Orphanet:181368 ! Insulin-resistance syndrome relationship: part_of Orphanet:206656 ! Non-dystrophic myopathy relationship: part_of Orphanet:98305 ! Genetic lipodystrophy property_value: alternative:term "GCL4" xsd:string property_value: alternative:term "Generalized congenital lipodystrophy type 4" xsd:string [Term] id: Orphanet:2285 name: Primary basilar impression xref: ICD10:Q75.8 xref: OMIM:109500 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102000 ! Medullar disease relationship: part_of Orphanet:183515 ! Rare genetic medullar disease property_value: alternative:term "Bull-Nixon syndrome" xsd:string [Term] id: Orphanet:2286 name: Solitary median maxillary central incisor syndrome xref: ICD10:K00.2 xref: MESH:C537342 xref: OMIM:147250 xref: SNOMED CT:8654005 xref: UMLS:C1840235 is_a: Orphanet:280200 ! Microform holoprosencephaly relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Single upper central incisor" xsd:string property_value: alternative:term "SMMCI" xsd:string [Term] id: Orphanet:2287 name: Fused mandibular incisors xref: ICD10:K00.2 xref: MESH:C535997 xref: OMIM:147251 xref: UMLS:C2931081 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:164001 ! Rare odontal or periodontal disorder property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure." xsd:string [Term] id: Orphanet:2289 name: Neuronal intranuclear inclusion disease xref: ICD10:G31.0 xref: MESH:C537395 xref: OMIM:603472 xref: UMLS:C1863843 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:306695 ! Miscellaneous movement disorder due to neurodegenerative disease relationship: part_of Orphanet:307058 ! Miscellaneous movement disorder due to genetic neurodegenerative disease relationship: part_of Orphanet:89043 ! Rare dementia [Term] id: Orphanet:229 name: Familial aortic dissection xref: ICD10:I71.0 xref: OMIM:607086 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:233655 ! Rare genetic vascular disease relationship: part_of Orphanet:68362 ! Rare vascular disease property_value: alternative:term "Annuloaortic ectasia" xsd:string property_value: alternative:term "Cystic medial necrosis of aorta" xsd:string property_value: alternative:term "Erdheim disease" xsd:string [Term] id: Orphanet:2290 name: Microvillous inclusion disease xref: ICD10:P78.3 xref: MEDDRA:10068494 xref: OMIM:251850 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:104007 ! Congenital enteropathy involving intestinal mucosa development relationship: part_of Orphanet:363300 ! Genetic intractable diarrhea of infancy relationship: part_of Orphanet:73014 ! Intractable diarrhea of infancy property_value: alternative:term "Congenital microvillous atrophy" xsd:string [Term] id: Orphanet:2291 name: Congenital velopharyngeal incompetence xref: ICD10:J39.2 xref: OMIM:167500 xref: SNOMED CT:427791009 xref: UMLS:C1997202 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:156249 ! Larynx anomaly [Term] id: Orphanet:2292 name: Congenital bowing of long bones xref: ICD10:Q68.3 xref: ICD10:Q68.4 xref: ICD10:Q68.5 xref: ICD10:Q68.8 xref: MEDDRA:10054064 xref: OMIM:211355 xref: OMIM:264050 xref: UMLS:C1096546 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:294944 ! Congenital deformities of limbs relationship: part_of Orphanet:93439 ! Bent bone dysplasia [Term] id: Orphanet:2295 name: Ehlers-Danlos syndrome type 11 xref: ICD10:Q79.6 xref: OMIM:147900 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98249 ! Ehlers-Danlos syndrome property_value: alternative:term "EDS XI" xsd:string property_value: alternative:term "Familial joint instability syndrome" xsd:string property_value: alternative:term "Familial joint laxity" xsd:string property_value: alternative:term "Joint instability syndrome" xsd:string [Term] id: Orphanet:2297 name: Insulin-resistance syndrome type A xref: ICD10:E11 xref: OMIM:610549 xref: SNOMED CT:237651005 xref: UMLS:C0342336 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:181368 ! Insulin-resistance syndrome [Term] id: Orphanet:229717 name: Isolated agammaglobulinemia xref: OMIM:300310 xref: OMIM:300755 xref: OMIM:601495 xref: OMIM:612692 xref: OMIM:613500 xref: OMIM:613501 xref: OMIM:613502 xref: OMIM:613506 xref: OMIM:615214 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:183669 ! Agammaglobulinemia property_value: alternative:term "Isolated hypogammaglobulinemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy." xsd:string [Term] id: Orphanet:229720 name: Syndromic agammaglobulinemia is_a: Orphanet:183669 ! Agammaglobulinemia [Term] id: Orphanet:229784 name: RAD51 paralog C xref: ENSEMBL:ENSG00000108384 xref: GENATLAS:RAD51C xref: HGNC:9820 xref: OMIM:602774 xref: REACTOME:O43502 xref: UNIPROTKB/SWISSPROT:O43502 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:145 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary breast and ovarian cancer syndrome relationship: Orphanet:317343 Orphanet:84 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fanconi anemia property_value: alternative:term "FANCO" xsd:string property_value: alternative:term "RAD51 (S. cerevisiae) homolog C" xsd:string property_value: alternative:term "RAD51 homolog C (S. cerevisiae)" xsd:string property_value: alternative:term "RAD51L2" xsd:string property_value: symbol "RAD51C" xsd:string [Term] id: Orphanet:229787 name: polynucleotide kinase 3'-phosphatase xref: ENSEMBL:ENSG00000039650 xref: GENATLAS:PNKP xref: HGNC:9154 xref: OMIM:605610 xref: UNIPROTKB/SWISSPROT:Q96T60 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:228418 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microcephaly - seizures - developmental delay property_value: alternative:term "PNK" xsd:string property_value: symbol "PNKP" xsd:string [Term] id: Orphanet:229791 name: keratin 74 xref: ENSEMBL:ENSG00000170484 xref: GENATLAS:KRT74 xref: HGNC:28929 xref: OMIM:608248 xref: UNIPROTKB/SWISSPROT:Q7RTS7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:170 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Woolly hair relationship: Orphanet:317343 Orphanet:90368 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypotrichosis simplex of the scalp property_value: alternative:term "K6IRS4" xsd:string property_value: alternative:term "KRT5C" xsd:string property_value: alternative:term "KRT6IRS4" xsd:string property_value: symbol "KRT74" xsd:string [Term] id: Orphanet:229796 name: adenomatosis polyposis coli down-regulated 1 xref: ENSEMBL:ENSG00000154856 xref: GENATLAS:APCDD1 xref: HGNC:15718 xref: OMIM:607479 xref: UNIPROTKB/SWISSPROT:Q8J025 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:55654 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypotrichosis simplex property_value: alternative:term "B7323" xsd:string property_value: symbol "APCDD1" xsd:string [Term] id: Orphanet:2298 name: Insulin-resistance syndrome type B xref: ICD10:E11 xref: SNOMED CT:237652003 xref: UMLS:C0342337 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:181368 ! Insulin-resistance syndrome [Term] id: Orphanet:229801 name: kinase insert domain receptor (a type III receptor tyrosine kinase) xref: ENSEMBL:ENSG00000128052 xref: GENATLAS:KDR xref: HGNC:6307 xref: IUPHAR:1813 xref: OMIM:191306 xref: REACTOME:P35968 xref: UNIPROTKB/SWISSPROT:P35968 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:91415 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial capillary hemangioma property_value: alternative:term "CD309" xsd:string property_value: alternative:term "FLK1" xsd:string property_value: alternative:term "VEGFR" xsd:string property_value: alternative:term "VEGFR2" xsd:string property_value: symbol "KDR" xsd:string [Term] id: Orphanet:2299 name: Aortic arch interruption xref: ICD10:Q25.4 xref: MEDDRA:10022599 xref: SNOMED CT:218728005 xref: UMLS:C0152419 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98718 ! Aortic malformation property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths." xsd:string [Term] id: Orphanet:23 name: Argininosuccinic aciduria xref: ICD10:E72.2 xref: MEDDRA:10058299 xref: MESH:D056807 xref: OMIM:207900 xref: SNOMED CT:41013004 xref: UMLS:C0268547 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:79167 ! Disorder of urea cycle metabolism and ammonia detoxification property_value: alternative:term "Argininosuccinase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Arginosuccinicaciduria is an autosomal recessive inherited deficiency of arginosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioral disorders. Onset can also occur later with hyperammonemic coma or behavioral disorders that simulate psychiatric disorders." xsd:string [Term] id: Orphanet:230 name: Dopamine beta-hydroxylase deficiency xref: ICD10:G90.8 xref: MESH:C535600 xref: OMIM:223360 xref: SNOMED CT:237923004 xref: UMLS:C0342687 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182058 ! Primary orthostatic hypotension relationship: part_of Orphanet:309830 ! Disorder of catecholamine synthesis relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:98578 ! Ptosis property_value: alternative:term "Noradrenaline deficiency" xsd:string property_value: alternative:term "Norepinephrine deficiency" xsd:string [Term] id: Orphanet:2300 name: Multiple intestinal atresia xref: ICD10:Q43.8 xref: OMIM:243150 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:108967 ! Nonsyndromic intestinal malformation property_value: alternative:term "Familial intestinal polyatresia syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Multiple intestinal atresia is a rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel, duodenum or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns" xsd:string [Term] id: Orphanet:2301 name: Congenital short bowel syndrome xref: ICD10:Q41 xref: OMIM:300048 xref: OMIM:615237 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: part_of Orphanet:108969 ! Syndromic intestinal malformation relationship: part_of Orphanet:365563 ! Primary short bowel syndrome property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive." xsd:string [Term] id: Orphanet:2302 name: Asbestos intoxication xref: ICD10:J61 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:182098 ! Pneumoconiosis property_value: alternative:term "Asbestosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Asbestos intoxication is a pneumoconiosis (see this term) caused by exposure to asbestos particles. Symptoms may appear many years after exposure and include progressive dyspnea on exertion, dry cough, chest pain, tightness, inspiratory crackles, clubbing of the fingers. Later complications include mesothelioma and lung cancers (see these terms)." xsd:string [Term] id: Orphanet:2305 name: Isotretinoin syndrome xref: ICD10:Q86.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:138059 ! Teratogenic Pierre Robin syndrome relationship: part_of Orphanet:251529 ! Toxic or drug-related embryofetopathy property_value: alternative:term "Isotretinoin embryopathy" xsd:string property_value: alternative:term "Retinoic acid embryopathy" xsd:string property_value: alternative:term "Retinoids embryopathy" xsd:string [Term] id: Orphanet:2306 name: Isotretinoin-like syndrome xref: ICD10:Q87.8 xref: OMIM:243440 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "Kawashima syndrome" xsd:string property_value: alternative:term "Microtia-aortic arch syndrome" xsd:string [Term] id: Orphanet:2307 name: IVIC syndrome xref: ICD10:Q71.8 xref: OMIM:147750 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects property_value: alternative:term "Oculo-oto-radial syndrome" xsd:string [Term] id: Orphanet:2308 name: Jacobsen syndrome xref: ICD10:Q93.5 xref: MESH:D054868 xref: OMIM:147791 xref: SNOMED CT:4325000 xref: UMLS:C0795841 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:262092 ! Partial deletion of the long arm of chromosome 11 relationship: part_of Orphanet:98578 ! Ptosis property_value: alternative:term "Del(11)(q23.3)" xsd:string property_value: alternative:term "Del(11)(qter)" xsd:string property_value: alternative:term "Distal deletion 11q" xsd:string property_value: alternative:term "Distal monosomy 11q" xsd:string property_value: alternative:term "Monosomy 11qter" xsd:string property_value: alternative:term "Partial deletion 11q" xsd:string property_value: alternative:term "Telomeric deletion 11q" xsd:string [Term] id: Orphanet:230800 name: Toxin-mediated infectious botulism xref: ICD10:A05.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:1267 ! Botulism property_value: alternative:term "Toxin-mediated infective botulism" xsd:string [Term] id: Orphanet:230839 name: Ehlers-Danlos syndrome due to tenascin-X deficiency xref: ICD10:Q79.6 xref: OMIM:606408 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108979 ! Syndromic diaphragmatic or abdominal wall malformation relationship: part_of Orphanet:167762 ! Rare disease with dentinogenesis imperfecta relationship: part_of Orphanet:180779 ! Syndromic diaphragmatic or thoracic malformation relationship: part_of Orphanet:182222 ! Rare systemic disease relationship: part_of Orphanet:98249 ! Ehlers-Danlos syndrome property_value: alternative:term "EDS, classic-like type" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome, classic-like type" xsd:string [Term] id: Orphanet:230845 name: Ehlers-Danlos syndrome, vascular-like type xref: ICD10:Q79.6 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:233655 ! Rare genetic vascular disease relationship: part_of Orphanet:68362 ! Rare vascular disease relationship: part_of Orphanet:98249 ! Ehlers-Danlos syndrome property_value: alternative:term "EDS, vascular-like type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Ehlers-Danlos, vascular-like type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries." xsd:string [Term] id: Orphanet:230851 name: Ehlers-Danlos syndrome, cardiac valvular type xref: ICD10:Q79.6 xref: OMIM:225320 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:156532 ! Rare syndrome with cardiac malformations relationship: part_of Orphanet:98249 ! Ehlers-Danlos syndrome property_value: alternative:term "EDS, cardiac valvular type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by joint hypermobility, skin hyperextensibility and cardiac valvular defects." xsd:string [Term] id: Orphanet:230857 name: Ehlers-Danlos/osteogenesis imperfecta syndrome xref: ICD10:Q78.0 xref: ICD10:Q79.6 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93446 ! Primary bone dysplasia with decreased bone density relationship: part_of Orphanet:98249 ! Ehlers-Danlos syndrome property_value: alternative:term "EDS/OI syndrome" xsd:string [Term] id: Orphanet:2309 name: Pachyonychia congenita xref: ICD10:Q84.5 xref: MESH:D053549 xref: OMIM:167200 xref: OMIM:167210 xref: OMIM:260130 xref: SNOMED CT:39427000 xref: UMLS:C0265334 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:79370 ! Syndromic nail anomaly relationship: part_of Orphanet:98353 ! Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature property_value: alternative:term "PC" xsd:string [Term] id: Orphanet:231 name: Dracunculiasis xref: ICD10:B72 xref: MEDDRA:10013618 xref: MESH:D004320 xref: SNOMED CT:396334002 xref: UMLS:C0013100 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2034 ! Filariasis property_value: alternative:term "Dracunculosis" xsd:string property_value: alternative:term "Guinea worm disease" xsd:string property_value: alternative:term "Medina worm disease" xsd:string property_value: alternative:term "Medinensis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition ", microcrustacea also called water fleas)." xsd:string [Term] id: Orphanet:2310 name: Absence deformity of leg - cataract xref: OMIM:246000 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Absence deformity of leg – cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed." xsd:string [Term] id: Orphanet:231013 name: Congenital trigeminal anesthesia xref: ICD10:G50.8 xref: OMIM:122450 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:140653 ! Neuro-ophthalmological disease relationship: part_of Orphanet:183616 ! Genetic neuro-ophthalmological disease relationship: part_of Orphanet:98497 ! Genetic peripheral neuropathy [Term] id: Orphanet:231031 name: Erythema palmaris hereditarium xref: ICD10:L59.8 xref: OMIM:133000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79385 ! Unclassified genetic skin disease property_value: alternative:term "Lane disease" xsd:string property_value: alternative:term "Red palms disease" xsd:string [Term] id: Orphanet:231040 name: Familial generalized lentiginosis xref: ICD10:L81.4 xref: OMIM:150900 xref: OMIM:151001 is_a: Orphanet:183466 ! Genetic hyperpigmentation of the skin is_a: Orphanet:79375 ! Hyperpigmentation of the skin relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Familial lentigines profusa" xsd:string property_value: alternative:term "Familial multiple lentigines syndrome without systemic involvement" xsd:string [Term] id: Orphanet:2311 name: Autosomal recessive spondylocostal dysostosis xref: ICD10:Q76.8 xref: MESH:C535781 xref: MESH:C537565 xref: OMIM:277300 xref: OMIM:608681 xref: OMIM:609813 xref: OMIM:613686 xref: SNOMED CT:61367005 xref: UMLS:C0265343 xref: UMLS:C2931020 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:309505 ! Disorder of fucoglycosan synthesis relationship: part_of Orphanet:371195 ! Congenital disorder of glycosylation-related bone disorder relationship: part_of Orphanet:93454 ! Dysostosis with predominant vertebral and costal involvement property_value: alternative:term "Jarcho-Levin syndrome" xsd:string [Term] id: Orphanet:231108 name: Familial rhabdoid tumor xref: OMIM:609322 xref: OMIM:613325 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:271832 ! Genetic soft tissue tumor relationship: part_of Orphanet:69077 ! Rhabdoid tumor [Term] id: Orphanet:231111 name: Drug-induced lupus erythematosus xref: ICD10:M32.0 xref: MEDDRA:10013706 xref: SNOMED CT:201436003 xref: SNOMED CT:80258006 xref: UMLS:C0263591 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182222 ! Rare systemic disease relationship: part_of Orphanet:290836 ! Systemic disease with skin involvement property_value: alternative:term "DILE" xsd:string [Term] id: Orphanet:231117 name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 xref: ICD10:Q87.3 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:116 ! Beckwith-Wiedemann syndrome [Term] id: Orphanet:231120 name: Beckwith-Wiedemann syndrome due to CDKN1C mutation xref: ICD10:Q87.3 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:116 ! Beckwith-Wiedemann syndrome [Term] id: Orphanet:231127 name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion xref: ICD10:Q87.3 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: part_of Orphanet:116 ! Beckwith-Wiedemann syndrome relationship: part_of Orphanet:261947 ! Partial deletion of the short arm of chromosome 11 [Term] id: Orphanet:231130 name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion xref: ICD10:Q87.3 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:116 ! Beckwith-Wiedemann syndrome relationship: part_of Orphanet:263708 ! Complex chromosomal rearrangement [Term] id: Orphanet:231137 name: Silver-Russell syndrome due to 7p11.2p13 microduplication xref: ICD10:Q87.1 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:262749 ! Partial duplication of the short arm of chromosome 7 relationship: part_of Orphanet:813 ! Silver-Russell syndrome property_value: alternative:term "Silver-Russell syndrome due to 7p11.2-p13 microduplication" xsd:string property_value: alternative:term "Silver-Russell syndrome due to dup(7)(p11.2p13)" xsd:string property_value: alternative:term "Silver-Russell syndrome due to trisomy 7p11.2-p13" xsd:string property_value: alternative:term "Silver-Russell syndrome due to trisomy 7p11.2p13" xsd:string [Term] id: Orphanet:231140 name: Silver-Russell syndrome due to imprinting defect of 11p15 xref: ICD10:Q87.1 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: part_of Orphanet:813 ! Silver-Russell syndrome [Term] id: Orphanet:231144 name: Silver-Russell syndrome due to 11p15 microduplication xref: ICD10:Q87.1 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: part_of Orphanet:262785 ! Partial duplication of the short arm of chromosome 11 relationship: part_of Orphanet:813 ! Silver-Russell syndrome [Term] id: Orphanet:231147 name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 xref: ICD10:Q87.1 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:813 ! Silver-Russell syndrome relationship: part_of Orphanet:98153 ! Uniparental disomy of maternal origin property_value: alternative:term "UPD(11)mat" xsd:string [Term] id: Orphanet:231154 name: Combined immunodeficiency T+ B+ due to partial RAG1 deficiency xref: ICD10:D81.8 xref: OMIM:609889 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency property_value: alternative:term "CID T+ B+ due to partial RAG1 deficiency" xsd:string property_value: alternative:term "CID with expansion of gamma delta T cells" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia." xsd:string [Term] id: Orphanet:231160 name: Familial cerebral saccular aneurysm xref: OMIM:105800 xref: OMIM:300870 xref: OMIM:608542 xref: OMIM:609122 xref: OMIM:610213 xref: OMIM:611892 xref: OMIM:612161 xref: OMIM:612162 xref: OMIM:612586 xref: OMIM:612587 xref: OMIM:614252 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:183503 ! Genetic central nervous system and retinal vascular disease relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease property_value: alternative:term "Familial berry aneurysm" xsd:string property_value: alternative:term "Familial intracranial saccular aneurysm" xsd:string [Term] id: Orphanet:231169 name: Usher syndrome type 1 xref: ICD10:H35.5 xref: OMIM:276900 xref: OMIM:276904 xref: OMIM:601067 xref: OMIM:602083 xref: OMIM:602097 xref: OMIM:606943 xref: OMIM:612632 xref: OMIM:614869 xref: OMIM:614990 xref: SNOMED CT:232057003 xref: UMLS:C0339533 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:886 ! Usher syndrome property_value: alternative:term "USH1" xsd:string [Term] id: Orphanet:231178 name: Usher syndrome type 2 xref: ICD10:H35.5 xref: OMIM:276901 xref: OMIM:605472 xref: OMIM:611383 xref: SNOMED CT:232058008 xref: UMLS:C0339534 xref: UMLS:C1568249 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:886 ! Usher syndrome property_value: alternative:term "USH2" xsd:string [Term] id: Orphanet:231183 name: Usher syndrome type 3 xref: ICD10:H35.5 xref: OMIM:276902 xref: OMIM:500004 xref: OMIM:614504 xref: UMLS:C1568248 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:886 ! Usher syndrome property_value: alternative:term "USH3" xsd:string [Term] id: Orphanet:2312 name: Transient familial neonatal hyperbilirubinemia xref: ICD10:P59.3 xref: ICD10:P59.8 xref: OMIM:237900 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:156601 ! Rare genetic hepatic disease relationship: part_of Orphanet:57146 ! Rare hepatic disease property_value: alternative:term "Lucey-Driscoll syndrome" xsd:string [Term] id: Orphanet:231214 name: Beta-thalassemia major xref: ICD10:D56.1 xref: OMIM:613985 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:848 ! Beta-thalassemia property_value: alternative:term "Cooley anemia" xsd:string property_value: alternative:term "Mediterranean anemia" xsd:string [Term] id: Orphanet:231222 name: Beta-thalassemia intermedia xref: ICD10:D56.1 xref: OMIM:613985 xref: SNOMED CT:191189009 xref: UMLS:C0472767 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:848 ! Beta-thalassemia [Term] id: Orphanet:231226 name: Dominant beta-thalassemia xref: ICD10:D56.1 xref: OMIM:603902 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:848 ! Beta-thalassemia property_value: alternative:term "Inclusion body beta-thalassemia" xsd:string [Term] id: Orphanet:231230 name: Beta-thalassemia associated with another hemoglobin anomaly xref: ICD10:D58.2 is_a: Orphanet:275749 ! Beta-thalassemia and related diseases relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable property_value: alternative:term "Beta-thalassemia associated with another Hb anomaly" xsd:string [Term] id: Orphanet:231237 name: Delta-beta-thalassemia xref: ICD10:D56.2 xref: MEDDRA:10012236 xref: OMIM:141749 xref: SNOMED CT:16360009 xref: UMLS:C0271985 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:231230 ! Beta-thalassemia associated with another hemoglobin anomaly [Term] id: Orphanet:231242 name: Hemoglobin C - beta-thalassemia xref: ICD10:D58.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:231230 ! Beta-thalassemia associated with another hemoglobin anomaly property_value: alternative:term "C- beta-thalassemia" xsd:string property_value: alternative:term "HbC - beta-thalassemia" xsd:string [Term] id: Orphanet:231249 name: Hemoglobin E - beta-thalassemia xref: ICD10:D58.2 xref: SNOMED CT:234392002 xref: UMLS:C0472777 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:231230 ! Beta-thalassemia associated with another hemoglobin anomaly property_value: alternative:term "E-beta-thalassemia" xsd:string property_value: alternative:term "HbE - beta-thalassemia" xsd:string [Term] id: Orphanet:231256 name: Beta-thalassemia - trichothiodystrophy is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_33364 with label: Trichothiodystrophy" xsd:string [Term] id: Orphanet:231386 name: Beta-thalassemia with other manifestations xref: ICD10:D58.2 is_a: Orphanet:275749 ! Beta-thalassemia and related diseases [Term] id: Orphanet:231387 name: wingless-type MMTV integration site family, member 5A xref: ENSEMBL:ENSG00000114251 xref: GENATLAS:WNT5A xref: HGNC:12784 xref: OMIM:164975 xref: REACTOME:P41221 xref: UNIPROTKB/SWISSPROT:P41221 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3107 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Robinow syndrome property_value: alternative:term "hWNT5A" xsd:string property_value: alternative:term "WNT-5A protein" xsd:string property_value: symbol "WNT5A" xsd:string [Term] id: Orphanet:231393 name: Beta-thalassemia - X-linked thrombocytopenia xref: ICD10:D56.1 xref: ICD10:D69.4 xref: OMIM:314050 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:231386 ! Beta-thalassemia with other manifestations property_value: alternative:term "XLTT" xsd:string [Term] id: Orphanet:231397 name: SET binding protein 1 xref: ENSEMBL:ENSG00000152217 xref: GENATLAS:SETBP1 xref: HGNC:15573 xref: OMIM:611060 xref: UNIPROTKB/SWISSPROT:Q9Y6X0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:798 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Schinzel-Giedion syndrome property_value: alternative:term "KIAA0437" xsd:string property_value: alternative:term "SEB" xsd:string property_value: symbol "SETBP1" xsd:string [Term] id: Orphanet:2314 name: Autosomal dominant hyper-IgE syndrome xref: ICD10:D82.4 xref: OMIM:147060 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:183494 ! Genetic immune deficiency with skin involvement relationship: part_of Orphanet:331223 ! Hyper-IgE syndrome relationship: part_of Orphanet:79391 ! Immune deficiency with skin involvement property_value: alternative:term "AD-HIES" xsd:string property_value: alternative:term "Autosomal dominant HIES" xsd:string property_value: alternative:term "Autosomal dominant hyperimmunoglobulin E syndrome" xsd:string property_value: alternative:term "Buckley syndrome" xsd:string property_value: alternative:term "Hyperimmunoglobulin E syndrome type 1" xsd:string property_value: alternative:term "Hyperimmunoglobulin E-recurrent infection syndrome" xsd:string property_value: alternative:term "Job syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles." xsd:string [Term] id: Orphanet:231401 name: Alpha-thalassemia - myelodysplastic syndrome xref: ICD10:D46.7 xref: ICD10:D56.0 xref: OMIM:300448 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:232288 ! Alpha-thalassemia-related diseases property_value: alternative:term "Acquired HbH disease" xsd:string property_value: alternative:term "Acquired hemoglobin H disease" xsd:string property_value: alternative:term "ATMDS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms)." xsd:string [Term] id: Orphanet:231413 name: Variant of Guillain-Barré syndrome xref: ICD10:G61.0 is_a: Orphanet:2103 ! Guillain-Barré syndrome property_value: alternative:term "Variant of GBS" xsd:string [Term] id: Orphanet:231416 name: Regional variant of Guillain-Barré syndrome xref: ICD10:G61.0 is_a: Orphanet:231413 ! Variant of Guillain-Barré syndrome property_value: alternative:term "Regional variant of GBS" xsd:string [Term] id: Orphanet:231419 name: Functional variant of Guillain-Barré syndrome xref: ICD10:G61.0 is_a: Orphanet:231413 ! Variant of Guillain-Barré syndrome property_value: alternative:term "Functional variant of GBS" xsd:string [Term] id: Orphanet:231422 name: forkhead box I1 xref: ENSEMBL:ENSG00000168269 xref: GENATLAS:FOXI1 xref: HGNC:3815 xref: OMIM:601093 xref: UNIPROTKB/SWISSPROT:Q12951 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:705 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pendred syndrome property_value: alternative:term "FKHL10" xsd:string property_value: alternative:term "FREAC6" xsd:string property_value: symbol "FOXI1" xsd:string [Term] id: Orphanet:231426 name: Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome xref: ICD10:G61.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:231416 ! Regional variant of Guillain-Barré syndrome property_value: alternative:term "PCB variant of GBS" xsd:string property_value: alternative:term "PCB variant of Guillain-Barré syndrome" xsd:string property_value: alternative:term "Pharyngeal-cervical-brachial weakness" xsd:string property_value: alternative:term "Pharyngo-cervico-brachial variant of GBS" xsd:string property_value: alternative:term "Pharyngo-cervico-brachial variant of Guillain-Barré syndrome" xsd:string [Term] id: Orphanet:231445 name: Paraparetic variant of Guillain-Barré syndrome xref: ICD10:G61.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:231419 ! Functional variant of Guillain-Barré syndrome property_value: alternative:term "Paraparetic variant of GBS" xsd:string [Term] id: Orphanet:231450 name: Acute pure sensory neuropathy xref: ICD10:G61.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:231419 ! Functional variant of Guillain-Barré syndrome property_value: alternative:term "Acute pure sensory GBS" xsd:string property_value: alternative:term "Acute pure sensory Guillain-Barré syndrome" xsd:string [Term] id: Orphanet:231457 name: Acute pandysautonomia xref: ICD10:G61.0 xref: SNOMED CT:430042004 xref: UMLS:C2315246 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:231419 ! Functional variant of Guillain-Barré syndrome property_value: alternative:term "Acute panautonomic GBS" xsd:string property_value: alternative:term "Acute panautonomic Guillain-Barré syndrome" xsd:string property_value: alternative:term "Acute panautonomic neuropathy" xsd:string [Term] id: Orphanet:231466 name: Acute sensory ataxic neuropathy xref: ICD10:G61.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:231419 ! Functional variant of Guillain-Barré syndrome property_value: alternative:term "Acute sensory ataxic GBS" xsd:string property_value: alternative:term "Acute sensory ataxic Guillain-Barré syndrome" xsd:string property_value: alternative:term "ASAN" xsd:string [Term] id: Orphanet:231494 name: tumor necrosis factor receptor superfamily, member 13C xref: ENSEMBL:ENSG00000159958 xref: GENATLAS:TNFRSF13C xref: HGNC:17755 xref: OMIM:606269 xref: UNIPROTKB/SWISSPROT:Q96RJ3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1572 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Common variable immunodeficiency property_value: alternative:term "BAFFR" xsd:string property_value: alternative:term "CD268" xsd:string property_value: symbol "TNFRSF13C" xsd:string [Term] id: Orphanet:2315 name: Johanson-Blizzard syndrome xref: ICD10:Q87.8 xref: MESH:C535880 xref: OMIM:243800 xref: SNOMED CT:75979009 xref: UMLS:C0175692 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:139021 ! Malformation syndrome with short stature relationship: part_of Orphanet:177107 ! Syndromic hypothyroidism relationship: part_of Orphanet:183570 ! Genetic malformation syndrome with short stature relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:95495 ! Disease associated with nonacquired combined pituitary hormone deficiency property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Johanson–Blizzard syndrome (JBS) is a rare autosomal recessive ectodermal dysplasia syndrome characterized by congenital exocrine pancreatic insufficiency and aplasia/hyposia of alae nasi, together with a variety of other abnormalities including aplasia cutis, anorectal anomalies and failure to thrive." xsd:string [Term] id: Orphanet:231500 name: Hermansky-Pudlak syndrome with pulmonary fibrosis xref: ICD10:E70.3 xref: OMIM:203300 xref: OMIM:614073 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:264719 ! Secondary interstitial lung disease specific to childhood associated with a metabolic disease relationship: part_of Orphanet:79430 ! Hermansky-Pudlak syndrome property_value: alternative:term "HPS with pulmonary fibrosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis." xsd:string [Term] id: Orphanet:231512 name: Hermansky-Pudlak syndrome without pulmonary fibrosis xref: ICD10:E70.3 xref: OMIM:614072 xref: OMIM:614074 xref: OMIM:614075 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79430 ! Hermansky-Pudlak syndrome property_value: alternative:term "HPS without pulmonary fibrosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis." xsd:string [Term] id: Orphanet:231527 name: phosphatidylinositol glycan anchor biosynthesis, class A xref: ENSEMBL:ENSG00000165195 xref: GENATLAS:PIGA xref: HGNC:8957 xref: OMIM:311770 xref: REACTOME:P37287 xref: UNIPROTKB/SWISSPROT:P37287 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:300496 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple congenital anomalies-hypotonia-seizures syndrome type 2 relationship: Orphanet:317344 Orphanet:447 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Paroxysmal nocturnal hemoglobinuria property_value: alternative:term "GPI3" xsd:string property_value: alternative:term "paroxysmal nocturnal hemoglobinuria" xsd:string property_value: alternative:term "phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)" xsd:string property_value: alternative:term "phosphatidylinositol N-acetylglucosaminyltransferase" xsd:string property_value: symbol "PIGA" xsd:string [Term] id: Orphanet:231531 name: Hermansky-Pudlak syndrome type 7 xref: ICD10:E70.3 xref: OMIM:614076 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:79430 ! Hermansky-Pudlak syndrome property_value: alternative:term "HPS7" xsd:string [Term] id: Orphanet:231537 name: Hermansky-Pudlak syndrome type 8 xref: ICD10:E70.3 xref: OMIM:614077 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:79430 ! Hermansky-Pudlak syndrome property_value: alternative:term "HPS8" xsd:string [Term] id: Orphanet:231556 name: Late-onset localized junctional epidermolysis bullosa - intellectual deficit xref: ICD10:Q81.8 xref: OMIM:226440 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:305 ! Junctional epidermolysis bullosa [Term] id: Orphanet:231568 name: Generalized dominant dystrophic epidermolysis bullosa xref: ICD10:Q81.2 xref: OMIM:131750 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:303 ! Dystrophic epidermolysis bullosa property_value: alternative:term "Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types" xsd:string property_value: alternative:term "DDEB, generalized" xsd:string property_value: alternative:term "DDEB, Pasini and Cockayne-Touraine types" xsd:string property_value: alternative:term "DDEB-gen" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails." xsd:string [Term] id: Orphanet:231573 name: Congenital erosive and vesicular dermatosis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79359 ! Other epidermis disorder [Term] id: Orphanet:231580 name: Primary unilateral adrenal hyperplasia is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:231637 ! Rare surgically correctable form of primary aldosteronism property_value: alternative:term "PUAH" xsd:string [Term] id: Orphanet:2316 name: Neuroectodermal syndrome, Johnson type xref: ICD10:Q87.8 xref: MESH:C535882 xref: OMIM:147770 xref: UMLS:C0796002 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Alopecia - anosmia - deafness - hypogonadism" xsd:string property_value: alternative:term "Johnson-McMillin syndrome" xsd:string [Term] id: Orphanet:231605 name: D-amino-acid oxidase xref: ENSEMBL:ENSG00000110887 xref: GENATLAS:DAO xref: HGNC:2671 xref: OMIM:124050 xref: REACTOME:P14920 xref: UNIPROTKB/SWISSPROT:P14920 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis property_value: alternative:term "DAMOX" xsd:string property_value: symbol "DAO" xsd:string [Term] id: Orphanet:231625 name: Adrenocortical carcinoma with pure aldosterone hypersecretion is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:231637 ! Rare surgically correctable form of primary aldosteronism property_value: alternative:term "Pure aldosterone-producing adrenocortical carcinoma" xsd:string property_value: alternative:term "Pure aldosterone-secreting adrenocortical carcinoma" xsd:string property_value: alternative:term "Pure APAC" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Adrenocortical carcinoma with pure aldosterone hypersecretion (pure APAC) is a very rare surgically-correctable form of primary aldosteronism (PA; see this term) due to an aldosterone-secreting adrenal malignancy." xsd:string [Term] id: Orphanet:231632 name: Ectopic aldosterone-producing tumor is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:231641 ! Rare non surgically correctable form of primary aldosteronism property_value: alternative:term "Extra-adrenal aldosterone-producing tumor" xsd:string [Term] id: Orphanet:231637 name: Rare surgically correctable form of primary aldosteronism is_a: Orphanet:181415 ! Rare primary hyperaldosteronism [Term] id: Orphanet:231641 name: Rare non surgically correctable form of primary aldosteronism is_a: Orphanet:181415 ! Rare primary hyperaldosteronism [Term] id: Orphanet:231662 name: Isolated growth hormone deficiency type IA xref: ICD10:E23.0 xref: OMIM:262400 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:631 ! Non-acquired isolated growth hormone deficiency property_value: alternative:term "Congenital IGHD type IA" xsd:string property_value: alternative:term "Congenital isolated GH deficiency type IA" xsd:string property_value: alternative:term "Congenital isolated growth hormone deficiency type IA" xsd:string [Term] id: Orphanet:231671 name: Isolated growth hormone deficiency type IB xref: ICD10:E23.0 xref: OMIM:612781 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:631 ! Non-acquired isolated growth hormone deficiency property_value: alternative:term "Congenital IGHD type IB" xsd:string property_value: alternative:term "Congenital isolated GH deficiency type IB" xsd:string property_value: alternative:term "Congenital isolated growth hormone deficiency type IB" xsd:string [Term] id: Orphanet:231679 name: Isolated growth hormone deficiency type II xref: ICD10:E23.0 xref: OMIM:173100 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:631 ! Non-acquired isolated growth hormone deficiency property_value: alternative:term "Congenital IGHD type II" xsd:string property_value: alternative:term "Congenital isolated GH deficiency type II" xsd:string property_value: alternative:term "Congenital isolated growth hormone deficiency type II" xsd:string [Term] id: Orphanet:231692 name: Isolated growth hormone deficiency type III xref: ICD10:E23.0 xref: OMIM:300123 xref: OMIM:307200 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:631 ! Non-acquired isolated growth hormone deficiency property_value: alternative:term "Congenital IGHD type III" xsd:string property_value: alternative:term "Congenital isolated GH deficiency type III" xsd:string property_value: alternative:term "Congenital isolated growth hormone deficiency type III" xsd:string property_value: alternative:term "X-linked IGHD" xsd:string property_value: alternative:term "X-linked isolated growth hormone deficiency" xsd:string [Term] id: Orphanet:231720 name: Nonacquired combined pituitary hormone deficiency with spine abnormalities xref: OMIM:221750 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:95495 ! Disease associated with nonacquired combined pituitary hormone deficiency [Term] id: Orphanet:231736 name: Microcornea - posterior megalolenticonus - persistent fetal vasculature - coloboma xref: ICD10:Q15.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98553 ! Developmental defect of the eye property_value: alternative:term "MPPC syndrome" xsd:string [Term] id: Orphanet:231742 name: Epibulbar lipodermoid - preauricular appendage - polythelia is_a: Orphanet:139036 ! Branchial arch or oral-acral syndrome is_a: Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Epibulbar lipodermoid – preauricular appendages – polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids." xsd:string [Term] id: Orphanet:2318 name: Joubert syndrome with oculorenal defect xref: ICD10:H35.5 xref: ICD10:Q04.3 xref: ICD10:Q61.5 xref: OMIM:243910 xref: OMIM:608091 xref: OMIM:610188 xref: OMIM:612285 xref: OMIM:614424 xref: OMIM:614465 xref: OMIM:614844 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:140874 ! Joubert syndrome and related disorders relationship: part_of Orphanet:269523 ! Syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:269567 ! Genetic syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:93587 ! Familial cystic renal disease relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa relationship: part_of Orphanet:98688 ! Oculomotor apraxia or related oculomotor disease property_value: alternative:term "Arima syndrome" xsd:string property_value: alternative:term "Cerebello-oculo-renal syndrome" xsd:string property_value: alternative:term "CORS" xsd:string property_value: alternative:term "Dekaban-Arima syndrome" xsd:string property_value: alternative:term "Joubert syndrome with Senior-Loken syndrome" xsd:string property_value: alternative:term "JS type B" xsd:string property_value: alternative:term "JS-OR" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease." xsd:string [Term] id: Orphanet:2319 name: Juberg-Hayward syndrome xref: ICD10:Q87.0 xref: MESH:C537690 xref: OMIM:216100 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Cleft lip/palate - abnormal thumbs - microcephaly" xsd:string property_value: alternative:term "Orocraniodigital syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit." xsd:string [Term] id: Orphanet:232 name: Sickle cell anemia xref: ICD10:D57 xref: MEDDRA:10040641 xref: MESH:D000755 xref: OMIM:603903 xref: SNOMED CT:127040003 xref: SNOMED CT:417357006 xref: UMLS:C0002895 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:275752 ! Sickle cell disease and related diseases relationship: part_of Orphanet:93614 ! Hematological disorder with renal involvement property_value: alternative:term "Sickle cell disease" xsd:string [Term] id: Orphanet:232035 name: Infectious embryofetopathy is_a: Orphanet:52662 ! Rare teratologic disease is_a: Orphanet:68416 ! Rare infectious disease [Term] id: Orphanet:232171 name: transmembrane protein 126A xref: ENSEMBL:ENSG00000171202 xref: GENATLAS:TMEM126A xref: HGNC:25382 xref: OMIM:612988 xref: UNIPROTKB/SWISSPROT:Q9H061 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:227976 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive optic atrophy, OPA7 type property_value: alternative:term "DKFZp586C1924" xsd:string property_value: alternative:term "OPA7" xsd:string property_value: symbol "TMEM126A" xsd:string [Term] id: Orphanet:232182 name: dipeptidyl-peptidase 6 xref: ENSEMBL:ENSG00000130226 xref: GENATLAS:DPP6 xref: HGNC:3010 xref: OMIM:126141 xref: UNIPROTKB/SWISSPROT:P42658 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:228140 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic ventricular fibrillation, not Brugada type relationship: Orphanet:317343 Orphanet:2514 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant microcephaly property_value: alternative:term "dipeptidylpeptidase 6" xsd:string property_value: alternative:term "dipeptidylpeptidase VI" xsd:string property_value: alternative:term "DPPX" xsd:string property_value: symbol "DPP6" xsd:string [Term] id: Orphanet:232194 name: alanyl-tRNA synthetase xref: ENSEMBL:ENSG00000090861 xref: GENATLAS:AARS xref: HGNC:20 xref: OMIM:601065 xref: REACTOME:P49588 xref: UNIPROTKB/SWISSPROT:P49588 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:228174 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Charcot-Marie-Tooth disease type 2N property_value: alternative:term "alanine tRNA ligase 1, cytoplasmic" xsd:string property_value: symbol "AARS" xsd:string [Term] id: Orphanet:2322 name: Kabuki syndrome xref: ICD10:Q87.0 xref: MESH:C537705 xref: OMIM:147920 xref: OMIM:300867 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:108979 ! Syndromic diaphragmatic or abdominal wall malformation relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:138063 ! Syndrome associated with Pierre Robin syndrome relationship: part_of Orphanet:139021 ! Malformation syndrome with short stature relationship: part_of Orphanet:180779 ! Syndromic diaphragmatic or thoracic malformation relationship: part_of Orphanet:183570 ! Genetic malformation syndrome with short stature relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:98568 ! Congenital entropion relationship: part_of Orphanet:98570 ! Congenital ectropion property_value: alternative:term "Kabuki make-up syndrome" xsd:string property_value: alternative:term "Niikawa-Kuroki syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency." xsd:string [Term] id: Orphanet:232223 name: NK3 homeobox 2 xref: ENSEMBL:ENSG00000109705 xref: GENATLAS:NKX3-2 xref: HGNC:951 xref: OMIM:602183 xref: UNIPROTKB/SWISSPROT:P78367 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:228387 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spondylo-megaepiphyseal-metaphyseal dysplasia property_value: alternative:term "bagpipe homeobox homolog 1 (Drosophila)" xsd:string property_value: alternative:term "BAPX1" xsd:string property_value: alternative:term "NKX3.2" xsd:string property_value: alternative:term "NKX3B" xsd:string property_value: symbol "NKX3-2" xsd:string [Term] id: Orphanet:232228 name: transmembrane and coiled-coil domains 1 xref: ENSEMBL:ENSG00000143183 xref: GENATLAS:TMCO1 xref: HGNC:18188 xref: OMIM:614123 xref: UNIPROTKB/SWISSPROT:Q9UM00 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:228407 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! TMCO1 defect syndrome property_value: alternative:term "HP10122" xsd:string property_value: alternative:term "TMCC4" xsd:string property_value: alternative:term "transmembrane and coiled-coil domains 4" xsd:string property_value: symbol "TMCO1" xsd:string [Term] id: Orphanet:232232 name: myocyte enhancer factor 2C xref: ENSEMBL:ENSG00000081189 xref: GENATLAS:MEF2C xref: HGNC:6996 xref: OMIM:600662 xref: REACTOME:Q06413 xref: UNIPROTKB/SWISSPROT:Q06413 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:228384 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 5q14.3 microdeletion syndrome property_value: symbol "MEF2C" xsd:string [Term] id: Orphanet:232245 name: itchy E3 ubiquitin protein ligase xref: ENSEMBL:ENSG00000078747 xref: GENATLAS:ITCH xref: HGNC:13890 xref: OMIM:606409 xref: REACTOME:Q96J02 xref: UNIPROTKB/SWISSPROT:Q96J02 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:228426 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Syndromic multisystem autoimmune disease due to Itch deficiency property_value: alternative:term "AIP4" xsd:string property_value: alternative:term "itchy (mouse homolog) E3 ubiquitin protein ligase" xsd:string property_value: alternative:term "Itchy E3 ubiquitin protein ligase homolog (mouse)" xsd:string property_value: symbol "ITCH" xsd:string [Term] id: Orphanet:232248 name: IQ motif and Sec7 domain 2 xref: ENSEMBL:ENSG00000124313 xref: GENATLAS:IQSEC2 xref: HGNC:29059 xref: OMIM:300522 xref: UNIPROTKB/SWISSPROT:Q5JU85 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit property_value: alternative:term "KIAA0522" xsd:string property_value: symbol "IQSEC2" xsd:string [Term] id: Orphanet:232288 name: Alpha-thalassemia-related diseases xref: ICD10:D56.0 is_a: Orphanet:275745 ! Alpha-thalassemia and related diseases property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS; see these terms).*" xsd:string [Term] id: Orphanet:2323 name: Sanjad-Sakati syndrome xref: ICD10:Q87.1 xref: OMIM:241410 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:181402 ! Syndrome with hypoparathyroidism relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "HRD syndrome" xsd:string property_value: alternative:term "Hypoparathyroidism - intellectual deficit - dysmorphism" xsd:string property_value: alternative:term "Hypoparathyroidism - short stature - intellectual deficit - seizures" xsd:string property_value: alternative:term "Middle-East syndrome" xsd:string property_value: alternative:term "Richadson-Kirk syndrome" xsd:string property_value: alternative:term "SSS" xsd:string [Term] id: Orphanet:2324 name: Kaler-Garrity-Stern syndrome xref: MESH:C537706 xref: OMIM:259690 xref: UMLS:C1850140 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:93446 ! Primary bone dysplasia with decreased bone density property_value: alternative:term "Osteopenia - intellectual deficit - sparse hair" xsd:string [Term] id: Orphanet:2325 name: Epidermolysis bullosa simplex with anodontia/hypodontia xref: ICD10:K00.0 xref: ICD10:Q81.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:304 ! Epidermolysis bullosa simplex relationship: part_of Orphanet:98027 ! Rare disease with odontological manifestation property_value: alternative:term "Gamborg-Nielsen syndrome" xsd:string property_value: alternative:term "Kallin syndrome" xsd:string [Term] id: Orphanet:2326 name: Kallmann syndrome - heart disease xref: ICD10:E23.0 xref: ICD10:Q24.9 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:174590 ! Congenital hypogonadotropic hypogonadism relationship: part_of Orphanet:181387 ! Syndrome with hypogonadotropic hypogonadism relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit [Term] id: Orphanet:2328 name: Kapur-Toriello syndrome xref: ICD10:Q87.8 xref: MESH:C537008 xref: OMIM:244300 xref: UMLS:C0796005 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Cleft lip/palate - facial, eye, heart and intestinal anomalies" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation." xsd:string [Term] id: Orphanet:2329 name: Karsch-Neugebauer syndrome xref: ICD10:Q87.2 xref: MESH:C537319 xref: OMIM:183800 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects property_value: alternative:term "Split hand/split foot - nystagmus" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus." xsd:string [Term] id: Orphanet:233 name: Duane retraction syndrome xref: ICD10:H50.8 xref: MEDDRA:10013799 xref: MESH:D004370 xref: OMIM:126800 xref: OMIM:604356 xref: SNOMED CT:60318001 xref: UMLS:C0013261 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:98518 ! Cranial nerve and nuclear aplasia relationship: part_of Orphanet:98683 ! Syndrome with a symptomatic strabismus property_value: alternative:term "DRS" xsd:string property_value: alternative:term "Duane syndrome" xsd:string property_value: alternative:term "DURS" xsd:string property_value: alternative:term "Stilling-Turk-Duane syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia." xsd:string [Term] id: Orphanet:2330 name: Kasabach-Merritt syndrome xref: ICD10:D18.0 xref: MEDDRA:10058423 xref: OMIM:141000 xref: SNOMED CT:86635005 xref: UMLS:C0221025 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:211237 ! Vascular tumor property_value: alternative:term "Hemangioma-thrombocytopenia syndrome" xsd:string [Term] id: Orphanet:233016 name: chromosome 2 open reading frame 71 xref: ENSEMBL:ENSG00000179270 xref: GENATLAS:C2orf71 xref: HGNC:34383 xref: OMIM:613425 xref: UNIPROTKB/SWISSPROT:A6NGG8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "FLJ34931" xsd:string property_value: symbol "C2ORF71" xsd:string [Term] id: Orphanet:233019 name: serpin peptidase inhibitor, clade B (ovalbumin), member 6 xref: ENSEMBL:ENSG00000124570 xref: GENATLAS:SERPINB6 xref: HGNC:8950 xref: OMIM:173321 xref: REACTOME:P35237 xref: UNIPROTKB/SWISSPROT:P35237 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "CAP" xsd:string property_value: alternative:term "cytoplasmic antiproteinase" xsd:string property_value: alternative:term "deafness, autosomal recessive 91" xsd:string property_value: alternative:term "DFNB91" xsd:string property_value: alternative:term "PI6" xsd:string property_value: alternative:term "PTI" xsd:string property_value: alternative:term "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6" xsd:string property_value: symbol "SERPINB6" xsd:string [Term] id: Orphanet:233025 name: RNA binding motif protein 10 xref: ENSEMBL:ENSG00000182872 xref: GENATLAS:RBM10 xref: HGNC:9896 xref: OMIM:300080 xref: UNIPROTKB/SWISSPROT:P98175 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2886 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! TARP syndrome property_value: alternative:term "DXS8237E" xsd:string property_value: alternative:term "GPATC9" xsd:string property_value: alternative:term "GPATCH9" xsd:string property_value: alternative:term "KIAA0122" xsd:string property_value: alternative:term "ZRANB5" xsd:string property_value: symbol "RBM10" xsd:string [Term] id: Orphanet:233032 name: low density lipoprotein receptor-related protein 4 xref: ENSEMBL:ENSG00000134569 xref: GENATLAS:LRP4 xref: HGNC:6696 xref: OMIM:604270 xref: REACTOME:O75096 xref: UNIPROTKB/SWISSPROT:O75096 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3152 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sclerosteosis relationship: Orphanet:317343 Orphanet:3258 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cenani-Lenz syndrome property_value: alternative:term "CLSS" xsd:string property_value: alternative:term "LRP-4" xsd:string property_value: alternative:term "MEGF7" xsd:string property_value: alternative:term "SOST2" xsd:string property_value: symbol "LRP4" xsd:string [Term] id: Orphanet:233035 name: FK506 binding protein 10, 65 kDa xref: ENSEMBL:ENSG00000141756 xref: GENATLAS:FKBP10 xref: HGNC:18169 xref: OMIM:607063 xref: UNIPROTKB/SWISSPROT:Q96AY3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1149 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Arthrogryposis-like syndrome relationship: Orphanet:317343 Orphanet:216828 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 5 relationship: Orphanet:317343 Orphanet:2771 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bruck syndrome property_value: alternative:term "FK506 binding protein 10 (65 kDa)" xsd:string property_value: alternative:term "FKBP6" xsd:string property_value: alternative:term "FLJ20683" xsd:string property_value: alternative:term "FLJ22041" xsd:string property_value: alternative:term "FLJ23833" xsd:string property_value: alternative:term "hFKBP65" xsd:string property_value: symbol "FKBP10" xsd:string [Term] id: Orphanet:233060 name: vimentin xref: ENSEMBL:ENSG00000026025 xref: GENATLAS:VIM xref: HGNC:12692 xref: OMIM:193060 xref: REACTOME:P08670 xref: UNIPROTKB/SWISSPROT:P08670 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98984 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pulverulent cataract property_value: symbol "VIM" xsd:string [Term] id: Orphanet:233062 name: agrin xref: ENSEMBL:ENSG00000188157 xref: GENATLAS:AGRN xref: HGNC:329 xref: OMIM:103320 xref: REACTOME:O00468 xref: UNIPROTKB/SWISSPROT:O00468 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98913 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Postsynaptic congenital myasthenic syndromes property_value: alternative:term "AGRIN" xsd:string property_value: alternative:term "agrin proteoglycan" xsd:string property_value: symbol "AGRN" xsd:string [Term] id: Orphanet:233066 name: microseminoprotein, beta- xref: ENSEMBL:ENSG00000138294 xref: GENATLAS:MSMB xref: HGNC:7372 xref: OMIM:157145 xref: UNIPROTKB/SWISSPROT:P08118 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1331 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial prostate cancer property_value: alternative:term "IGBF" xsd:string property_value: alternative:term "MSP" xsd:string property_value: alternative:term "MSPB" xsd:string property_value: alternative:term "PN44" xsd:string property_value: alternative:term "PRPS" xsd:string property_value: alternative:term "PSP" xsd:string property_value: alternative:term "PSP-94" xsd:string property_value: alternative:term "PSP57" xsd:string property_value: alternative:term "PSP94" xsd:string property_value: symbol "MSMB" xsd:string [Term] id: Orphanet:2331 name: Kawasaki disease xref: ICD10:M30.3 xref: MEDDRA:10023320 xref: OMIM:611775 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:156143 ! Predominantly medium-vessel vasculitis relationship: part_of Orphanet:324767 ! Non-familial rare disease with dilated cardiomyopathy relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "Mucocutaneous lymph node syndrome" xsd:string [Term] id: Orphanet:233165 name: CCAAT/enhancer binding protein (C/EBP), alpha xref: ENSEMBL:ENSG00000245848 xref: GENATLAS:CEBPA xref: HGNC:1833 xref: OMIM:116897 xref: REACTOME:P49715 xref: UNIPROTKB/SWISSPROT:P49715 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319465 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Inherited acute myeloid leukemia relationship: Orphanet:317344 Orphanet:319480 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute myeloid leukemia with CEBPA somatic mutations relationship: Orphanet:317347 Orphanet:102724 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute myeloid leukemia with t(8;21)(q22;q22) translocation property_value: alternative:term "C/EBP-alpha" xsd:string property_value: alternative:term "CEBP" xsd:string property_value: symbol "CEBPA" xsd:string [Term] id: Orphanet:233184 name: hemoglobin, gamma A xref: ENSEMBL:ENSG00000213934 xref: GENATLAS:HBG1 xref: HGNC:4831 xref: OMIM:142200 xref: REACTOME:P69891 xref: UNIPROTKB/SWISSPROT:P69891 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231237 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Delta-beta-thalassemia relationship: Orphanet:317343 Orphanet:251380 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary persistence of fetal hemoglobin - sickle cell disease relationship: Orphanet:317343 Orphanet:46532 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary persistence of fetal hemoglobin - beta-thalassemia property_value: symbol "HBG1" xsd:string [Term] id: Orphanet:233186 name: hemoglobin, gamma G xref: ENSEMBL:ENSG00000196565 xref: GENATLAS:HBG2 xref: HGNC:4832 xref: OMIM:142250 xref: REACTOME:P69892 xref: UNIPROTKB/SWISSPROT:P69892 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:251380 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary persistence of fetal hemoglobin - sickle cell disease relationship: Orphanet:317343 Orphanet:280615 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemoglobinopathy Toms River relationship: Orphanet:317343 Orphanet:46532 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary persistence of fetal hemoglobin - beta-thalassemia property_value: symbol "HBG2" xsd:string [Term] id: Orphanet:2332 name: KBG syndrome xref: ICD10:Q87.8 xref: MESH:C537015 xref: OMIM:148050 xref: UMLS:C0220687 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Short stature - facial and skeletal anomalies - intellectual deficit - macrodontia" xsd:string [Term] id: Orphanet:2333 name: Kenny-Caffey syndrome xref: ICD10:Q87.1 xref: MESH:C537020 xref: OMIM:127000 xref: OMIM:244460 xref: SNOMED CT:82837002 xref: UMLS:C0265291 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139021 ! Malformation syndrome with short stature relationship: part_of Orphanet:181402 ! Syndrome with hypoparathyroidism relationship: part_of Orphanet:183570 ! Genetic malformation syndrome with short stature relationship: part_of Orphanet:93440 ! Slender bone dysplasia property_value: alternative:term "Kenny syndrome" xsd:string [Term] id: Orphanet:2334 name: Autosomal dominant keratitis xref: ICD10:H16.8 xref: MESH:C537022 xref: OMIM:148190 xref: UMLS:C1835698 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:34533 ! Corneal dystrophy property_value: alternative:term "Hereditary keratitis" xsd:string [Term] id: Orphanet:233655 name: Rare genetic vascular disease is_a: Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:2337 name: Non-epidermolytic palmoplantar keratoderma xref: ICD10:Q82.8 xref: OMIM:600231 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98349 ! Autosomal dominant isolated diffuse palmoplantar keratoderma property_value: alternative:term "Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type" xsd:string property_value: alternative:term "NEPPK" xsd:string [Term] id: Orphanet:2338 name: Isolated punctate palmoplantar keratoderma xref: ICD10:Q82.8 is_a: Orphanet:307967 ! Punctate palmoplantar keratoderma property_value: alternative:term "Isolated punctate palmoplantar hyperkeratosis" xsd:string property_value: alternative:term "Isolated punctate PPK" xsd:string [Term] id: Orphanet:2339 name: Keratosis follicularis - dwarfism - cerebral atrophy xref: ICD10:Q87.1 xref: MESH:C536158 xref: OMIM:308830 xref: UMLS:C1839910 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79359 ! Other epidermis disorder relationship: part_of Orphanet:79360 ! Other genetic epidermal disease relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:234 name: Dubin-Johnson syndrome xref: ICD10:E80.6 xref: MEDDRA:10013800 xref: MESH:D007566 xref: OMIM:237500 xref: SNOMED CT:44553005 xref: UMLS:C0022350 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:309816 ! Disorder of bilirubin metabolism and excretion property_value: alternative:term "Dubin-Sprinz disease" xsd:string property_value: alternative:term "Hyperbilirubinemia type 2" xsd:string property_value: alternative:term "Sprinz-Nelson syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells." xsd:string [Term] id: Orphanet:2340 name: Keratosis follicularis spinulosa decalvans xref: ICD10:Q82.8 xref: MESH:C536159 xref: OMIM:308800 xref: OMIM:612843 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: part_of Orphanet:498 ! Keratosis pilaris atrophicans relationship: part_of Orphanet:98571 ! Secondary ectropion property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma." xsd:string [Term] id: Orphanet:2342 name: Haim-Munk syndrome xref: ICD10:Q82.8 xref: MESH:C537627 xref: OMIM:245010 xref: UMLS:C1855627 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:307804 ! Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature relationship: part_of Orphanet:309340 ! Disorder of lysosomal-related organelles property_value: alternative:term "Keratosis palmoplantaris - periodontopathia - onychogryposis" xsd:string property_value: alternative:term "Palmoplantar hyperkeratosis - periodontopathia - onychogryposis" xsd:string property_value: alternative:term "Palmoplantar keratoderma - periodontopathia - onychogryposis" xsd:string [Term] id: Orphanet:2343 name: Isolated cloverleaf skull syndrome xref: ICD10:Q75.0 xref: OMIM:148800 xref: OMIM:600775 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139390 ! Isolated craniosynostosis property_value: alternative:term "Kleeblattschaedel syndrome" xsd:string [Term] id: Orphanet:2345 name: Isolated Klippel-Feil syndrome xref: ICD10:Q76.1 xref: OMIM:118100 xref: OMIM:214300 xref: OMIM:613702 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:93454 ! Dysostosis with predominant vertebral and costal involvement property_value: alternative:term "Congenital cervical vertebral fusion" xsd:string property_value: alternative:term "Congenital fused cervical segments" xsd:string property_value: alternative:term "Klippel-Feil malformation" xsd:string property_value: alternative:term "Klippel-Feil sequence" xsd:string [Term] id: Orphanet:2346 name: Angio-osteohypertrophic syndrome xref: ICD10:Q87.2 xref: OMIM:149000 xref: OMIM:608355 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183478 ! Genetic skin vascular disease relationship: part_of Orphanet:211240 ! Genetic vascular anomaly relationship: part_of Orphanet:211266 ! Arteriovenous malformation relationship: part_of Orphanet:235832 ! Congenital vascular bone syndrome relationship: part_of Orphanet:79379 ! Skin vascular disease relationship: part_of Orphanet:93460 ! Overgrowth syndrome relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis property_value: alternative:term "Klippel-Trénaunay-Weber syndrome" xsd:string [Term] id: Orphanet:2347 name: Lethal Kniest-like dysplasia xref: ICD10:Q77.8 xref: MESH:C537208 xref: OMIM:245190 xref: UMLS:C1855605 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93465 ! Lethal chondrodysplasia [Term] id: Orphanet:2348 name: Familial partial lipodystrophy, Dunnigan type xref: ICD10:E88.1 xref: OMIM:151660 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139033 ! Progeroid syndrome relationship: part_of Orphanet:363245 ! Genetic progeroid syndrome relationship: part_of Orphanet:98306 ! Familial partial lipodystrophy property_value: alternative:term "Dunnigan syndrome" xsd:string property_value: alternative:term "Familial partial lipodystrophy type 2" xsd:string property_value: alternative:term "FPLD2" xsd:string [Term] id: Orphanet:2349 name: Muscular pseudohypertrophy - hypothyroidism xref: ICD10:E03.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:177107 ! Syndromic hypothyroidism property_value: alternative:term "Hoffman syndrome" xsd:string property_value: alternative:term "Kocher-Debré-Semelaigne syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term)." xsd:string [Term] id: Orphanet:235 name: Dubowitz syndrome xref: ICD10:Q87.1 xref: MEDDRA:10059589 xref: MESH:C535718 xref: OMIM:223370 xref: SNOMED CT:2593002 xref: UMLS:C0175691 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139021 ! Malformation syndrome with short stature relationship: part_of Orphanet:183570 ! Genetic malformation syndrome with short stature relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:98578 ! Ptosis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dubowitz syndrome is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities." xsd:string [Term] id: Orphanet:2351 name: Kousseff syndrome xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature property_value: alternative:term "Sacral meningocele - conotroncal heart defects" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Kousseff syndrome is characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11 (see this term)." xsd:string [Term] id: Orphanet:235181 name: potassium inwardly-rectifying channel, subfamily J, member 5 xref: ENSEMBL:ENSG00000120457 xref: GENATLAS:KCNJ5 xref: HGNC:6266 xref: IUPHAR:437 xref: OMIM:600734 xref: REACTOME:P48544 xref: UNIPROTKB/SWISSPROT:P48544 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101016 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Romano-Ward syndrome relationship: Orphanet:317343 Orphanet:251274 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hyperaldosteronism type 3 property_value: alternative:term "CIR" xsd:string property_value: alternative:term "GIRK4" xsd:string property_value: alternative:term "KATP1" xsd:string property_value: alternative:term "Kir3.4" xsd:string property_value: alternative:term "LQT13" xsd:string property_value: symbol "KCNJ5" xsd:string [Term] id: Orphanet:235187 name: spectrin, alpha, non-erythrocytic 1 xref: ENSEMBL:ENSG00000197694 xref: GENATLAS:SPTAN1 xref: HGNC:11273 xref: OMIM:182810 xref: REACTOME:Q13813 xref: UNIPROTKB/SWISSPROT:Q13813 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1934 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early infantile epileptic encephalopathy property_value: alternative:term "alpha-fodrin" xsd:string property_value: alternative:term "Spectrin, alpha, non-erythrocytic 1 (alpha-fodrin)" xsd:string property_value: symbol "SPTAN1" xsd:string [Term] id: Orphanet:235189 name: heparanase 2 xref: ENSEMBL:ENSG00000172987 xref: GENATLAS:HPSE2 xref: HGNC:18374 xref: OMIM:613469 xref: REACTOME:Q8WWQ2 xref: UNIPROTKB/SWISSPROT:Q8WWQ2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2704 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ochoa syndrome property_value: alternative:term "HPA2" xsd:string property_value: alternative:term "HPR2" xsd:string property_value: alternative:term "UFS" xsd:string property_value: alternative:term "urofacial syndrome" xsd:string property_value: symbol "HPSE2" xsd:string [Term] id: Orphanet:235193 name: membrane-spanning 4-domains, subfamily A, member 1 xref: ENSEMBL:ENSG00000156738 xref: GENATLAS:MS4A1 xref: HGNC:7315 xref: IUPHAR:2628 xref: OMIM:112210 xref: UNIPROTKB/SWISSPROT:P11836 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1572 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Common variable immunodeficiency property_value: alternative:term "B1" xsd:string property_value: alternative:term "Bp35" xsd:string property_value: alternative:term "CD20" xsd:string property_value: alternative:term "MS4A2" xsd:string property_value: symbol "MS4A1" xsd:string [Term] id: Orphanet:235199 name: CD81 molecule xref: ENSEMBL:ENSG00000110651 xref: GENATLAS:CD81 xref: HGNC:1701 xref: OMIM:186845 xref: REACTOME:P60033 xref: UNIPROTKB/SWISSPROT:P60033 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1572 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Common variable immunodeficiency property_value: alternative:term "CD81 antigen (target of antiproliferative antibody 1)" xsd:string property_value: alternative:term "TAPA-1" xsd:string property_value: alternative:term "TAPA1" xsd:string property_value: alternative:term "TSPAN28" xsd:string property_value: symbol "CD81" xsd:string [Term] id: Orphanet:235204 name: crystallin, gamma S xref: ENSEMBL:ENSG00000213139 xref: GENATLAS:CRYGS xref: HGNC:2417 xref: OMIM:123730 xref: UNIPROTKB/SWISSPROT:P22914 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:306561 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant childhood-onset cortical cataract property_value: alternative:term "CRYG8" xsd:string property_value: alternative:term "crystallin, gamma 8" xsd:string property_value: symbol "CRYGS" xsd:string [Term] id: Orphanet:235207 name: intraflagellar transport 122 homolog (Chlamydomonas) xref: ENSEMBL:ENSG00000163913 xref: GENATLAS:IFT122 xref: HGNC:13556 xref: OMIM:606045 xref: UNIPROTKB/SWISSPROT:Q9HBG6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1515 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cranioectodermal dysplasia property_value: alternative:term "SPG" xsd:string property_value: alternative:term "WD repeat domain 10" xsd:string property_value: alternative:term "WDR10" xsd:string property_value: alternative:term "WDR10p" xsd:string property_value: alternative:term "WDR140" xsd:string property_value: symbol "IFT122" xsd:string [Term] id: Orphanet:2353 name: Schilbach-Rott syndrome xref: ICD10:Q87.0 xref: OMIM:164220 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Blepharo-facio-skeletal syndrome" xsd:string property_value: alternative:term "BRSS" xsd:string property_value: alternative:term "Hypotelorism - cleft palate - hypospadias" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis and cleft palate, and the frequent occurrence of hypospadias in males." xsd:string [Term] id: Orphanet:2355 name: Kumar-Levick syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_1487 with label: Cooks syndrome" xsd:string [Term] id: Orphanet:235504 name: ets variant 4 xref: ENSEMBL:ENSG00000175832 xref: GENATLAS:ETV4 xref: HGNC:3493 xref: OMIM:600711 xref: UNIPROTKB/SWISSPROT:P43268 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:319 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ewing sarcoma property_value: alternative:term "E1A enhancer binding protein" xsd:string property_value: alternative:term "E1A-F" xsd:string property_value: alternative:term "E1AF" xsd:string property_value: alternative:term "ets variant gene 4 (E1A enhancer-binding protein, E1AF)" xsd:string property_value: symbol "ETV4" xsd:string [Term] id: Orphanet:2356 name: Arachnoid cyst xref: ICD10:G93.0 xref: MEDDRA:10049005 xref: MESH:D016080 xref: OMIM:182990 xref: OMIM:207790 xref: SNOMED CT:33595009 xref: UMLS:C0078981 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:269194 ! Central nervous system cystic malformation relationship: part_of Orphanet:269550 ! Genetic nonsyndromic central nervous system malformation relationship: part_of Orphanet:95505 ! Pituitary hormone deficiency from meningeal origin [Term] id: Orphanet:2357 name: Bronchogenic cyst xref: ICD10:J98.4 xref: ICD10:Q33.0 xref: MEDDRA:10064585 xref: MESH:D001994 xref: SNOMED CT:9550003 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108993 ! Nonsyndromic respiratory or mediastinal malformation relationship: part_of Orphanet:182111 ! Respiratory malformation [Term] id: Orphanet:235832 name: Congenital vascular bone syndrome is_a: Orphanet:183524 ! Rare genetic bone disease is_a: Orphanet:93419 ! Rare bone disease [Term] id: Orphanet:235936 name: Familial hyperaldosteronism xref: ICD10:E26.0 is_a: Orphanet:231641 ! Rare non surgically correctable form of primary aldosteronism is_a: Orphanet:371861 ! Genetic hyperaldosteronism [Term] id: Orphanet:236 name: Trisomy 9p xref: ICD10:Q92.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262767 ! Partial trisomy of the short arm of chromosome 9 relationship: part_of Orphanet:98642 ! Chromosomal anomaly with cataract property_value: alternative:term "Duplication 9p" xsd:string property_value: alternative:term "Short arm of chromosome 9 duplication" xsd:string property_value: alternative:term "Short arm of chromosome 9 trisomy" xsd:string [Term] id: Orphanet:2363 name: Lacrimo-auriculo-dento-digital syndrome xref: ICD10:Q87.8 xref: OMIM:149730 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:156246 ! Nose and cavum anomaly relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:98609 ! EEC syndrome and related syndrome property_value: alternative:term "Lacrimo-auriculo-radio-dental syndrome" xsd:string property_value: alternative:term "LADD syndrome" xsd:string property_value: alternative:term "LARD syndrome" xsd:string property_value: alternative:term "Levy-Hollister syndrome" xsd:string [Term] id: Orphanet:2364 name: Glycogen storage disease due to lactate dehydrogenase deficiency xref: ICD10:E74.4 xref: OMIM:612933 xref: OMIM:614128 xref: SNOMED CT:237982007 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:79201 ! Glycogen storage disease property_value: alternative:term "Glycogenosis due to lactate dehydrogenase deficiency" xsd:string property_value: alternative:term "GSD due to lactate dehydrogenase deficiency" xsd:string property_value: alternative:term "LDH deficiency" xsd:string [Term] id: Orphanet:236638 name: Sp7 transcription factor xref: ENSEMBL:ENSG00000170374 xref: GENATLAS:SP7 xref: HGNC:17321 xref: OMIM:606633 xref: UNIPROTKB/SWISSPROT:Q8TDD2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:216820 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 4 property_value: alternative:term "osterix" xsd:string property_value: alternative:term "OSX" xsd:string property_value: symbol "SP7" xsd:string [Term] id: Orphanet:236656 name: CD2-associated protein xref: ENSEMBL:ENSG00000198087 xref: GENATLAS:CD2AP xref: HGNC:14258 xref: OMIM:604241 xref: REACTOME:Q9Y5K6 xref: UNIPROTKB/SWISSPROT:Q9Y5K6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93213 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis property_value: alternative:term "CMS" xsd:string property_value: symbol "CD2AP" xsd:string [Term] id: Orphanet:2368 name: Gastroschisis xref: ICD10:Q79.3 xref: MEDDRA:10018046 xref: MESH:D020139 xref: OMIM:230750 xref: SNOMED CT:72951007 xref: UMLS:C0265706 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:108977 ! Nonsyndromic diaphragmatic or abdominal wall malformation relationship: part_of Orphanet:365563 ! Primary short bowel syndrome property_value: alternative:term "Laparoschisis" xsd:string [Term] id: Orphanet:2369 name: Limb body wall complex xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108979 ! Syndromic diaphragmatic or abdominal wall malformation property_value: alternative:term "LBWC syndrome" xsd:string [Term] id: Orphanet:236967 name: CD79b molecule, immunoglobulin-associated beta xref: ENSEMBL:ENSG00000007312 xref: GENATLAS:CD79B xref: HGNC:1699 xref: OMIM:147245 xref: REACTOME:P40259 xref: UNIPROTKB/SWISSPROT:P40259 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:33110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal agammaglobulinemia property_value: alternative:term "B29" xsd:string property_value: alternative:term "CD79B antigen (immunoglobulin-associated beta)" xsd:string property_value: alternative:term "IGB" xsd:string property_value: symbol "CD79B" xsd:string [Term] id: Orphanet:236971 name: B-cell linker xref: ENSEMBL:ENSG00000095585 xref: GENATLAS:BLNK xref: HGNC:14211 xref: OMIM:604515 xref: REACTOME:Q8WV28 xref: UNIPROTKB/SWISSPROT:Q8WV28 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:33110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal agammaglobulinemia property_value: alternative:term "B cell adaptor containing SH2 domain" xsd:string property_value: alternative:term "B-cell activation" xsd:string property_value: alternative:term "B-cell adapter containing a SH2 domain protein" xsd:string property_value: alternative:term "BASH" xsd:string property_value: alternative:term "bca" xsd:string property_value: alternative:term "BLNK-s" xsd:string property_value: alternative:term "Ly57" xsd:string property_value: alternative:term "SLP-65" xsd:string property_value: alternative:term "SLP65" xsd:string property_value: alternative:term "Src homology [SH2] domain-containing leukocyte protein of 65 kD" xsd:string property_value: symbol "BLNK" xsd:string [Term] id: Orphanet:237 name: Duplication of urethra xref: ICD10:Q64.7 xref: SNOMED CT:69015003 xref: UMLS:C0266348 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:182124 ! Nonsyndromic urogenital tract malformation of male and female relationship: part_of Orphanet:357506 ! Genetic nonsyndromic renal or urinary tract malformation relationship: part_of Orphanet:93546 ! Nonsyndromic renal or urinary tract malformation [Term] id: Orphanet:2370 name: Larsen-like osseous dysplasia - short stature xref: ICD10:Q74.8 xref: OMIM:608545 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93441 ! Primary bone dysplasia with multiple joint dislocations [Term] id: Orphanet:2371 name: Lethal Larsen-like syndrome xref: ICD10:Q74.8 xref: MESH:C537872 xref: OMIM:245650 xref: UMLS:C1855535 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139030 ! Malformation syndrome with connective tissue involvement relationship: part_of Orphanet:93441 ! Primary bone dysplasia with multiple joint dislocations [Term] id: Orphanet:2372 name: Laryngocele xref: ICD10:Q31.3 xref: MEDDRA:10023885 xref: SNOMED CT:51523009 xref: UMLS:C0265761 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:156249 ! Larynx anomaly [Term] id: Orphanet:2373 name: Congenital laryngomalacia xref: ICD10:Q31.5 xref: MEDDRA:10060786 xref: MESH:D055092 xref: OMIM:150280 xref: SNOMED CT:253737007 xref: UMLS:C0345160 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:156249 ! Larynx anomaly [Term] id: Orphanet:2374 name: Congenital laryngeal web xref: ICD10:Q31.0 xref: MEDDRA:10023871 xref: OMIM:150360 xref: SNOMED CT:47070001 xref: UMLS:C0152416 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:156249 ! Larynx anomaly [Term] id: Orphanet:237462 name: T-box 20 xref: ENSEMBL:ENSG00000164532 xref: GENATLAS:TBX20 xref: HGNC:11598 xref: OMIM:606061 xref: UNIPROTKB/SWISSPROT:Q9UMR3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99103 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atrial septal defect, ostium secundum type property_value: symbol "TBX20" xsd:string [Term] id: Orphanet:237464 name: tolloid-like 1 xref: ENSEMBL:ENSG00000038295 xref: GENATLAS:TLL1 xref: HGNC:11843 xref: OMIM:606742 xref: REACTOME:O43897 xref: UNIPROTKB/SWISSPROT:O43897 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99103 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atrial septal defect, ostium secundum type relationship: Orphanet:317343 Orphanet:99106 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atrial septal defect, ostium primum type property_value: symbol "TLL1" xsd:string [Term] id: Orphanet:2375 name: Laryngeal abductor paralysis - intellectual deficit xref: OMIM:308850 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Plott syndrome" xsd:string [Term] id: Orphanet:2377 name: Laurence-Moon syndrome xref: ICD10:Q87.8 xref: MEDDRA:10056710 xref: MESH:D007849 xref: OMIM:245800 xref: SNOMED CT:232059000 xref: UMLS:C0023138 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:174590 ! Congenital hypogonadotropic hypogonadism relationship: part_of Orphanet:181387 ! Syndrome with hypogonadotropic hypogonadism relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy [Term] id: Orphanet:2378 name: Laurin-Sandrow syndrome xref: ICD10:Q87.2 xref: MESH:C535689 xref: OMIM:135750 xref: UMLS:C1851100 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "Mirror hands and feets - nasal defects" xsd:string property_value: alternative:term "Sandrow syndrome" xsd:string [Term] id: Orphanet:2379 name: Early-onset parkinsonism - intellectual deficit xref: OMIM:311510 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: part_of Orphanet:306666 ! Rare parkinsonian syndrome due to neurodegenerative disease relationship: part_of Orphanet:307055 ! Rare parkinsonian syndrome due to genetic neurodegenerative disease relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Laxova-Opitz syndrome" xsd:string property_value: alternative:term "Waisman syndrome" xsd:string [Term] id: Orphanet:238 name: Digestive duplication xref: ICD10:Q45.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:108967 ! Nonsyndromic intestinal malformation [Term] id: Orphanet:2380 name: Legg-Calvé-Perthes disease xref: ICD10:M91.1 xref: OMIM:150600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2764 ! Osteochondritis dissecans relationship: part_of Orphanet:93421 ! Type 2 collagen-related bone disorder property_value: alternative:term "Aseptic necrosis of the capital femoral epiphysis" xsd:string property_value: alternative:term "Osteochondritis of the capital femoral epiphysis" xsd:string property_value: alternative:term "Osteochondrosis of the capital femoral epiphysis" xsd:string property_value: alternative:term "Perthes disease" xsd:string [Term] id: Orphanet:2382 name: Lennox-Gastaut syndrome xref: ICD10:G40.4 xref: MEDDRA:10048816 xref: MESH:C535500 xref: SNOMED CT:230418006 xref: UMLS:C0238111 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:98259 ! Childhood-onset epilepsy syndrome [Term] id: Orphanet:238269 name: Familial renal amyloidosis due to Apolipoprotein AII variant xref: ICD10:E85.0 is_a: Orphanet:85450 ! Familial renal amyloidosis property_value: alternative:term "Apolipoprotein AII amyloidosis" xsd:string property_value: alternative:term "Familial amyloid nephropathy due to apolipoprotein AII variant" xsd:string property_value: alternative:term "Hereditary amyloid nephropathy due to Apolipoprotein AII variant" xsd:string property_value: alternative:term "Hereditary renal amyloidosis due to apolipoprotein AII variant" xsd:string [Term] id: Orphanet:238305 name: Infundibulo-neurohypophysitis xref: ICD10:E23.6 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:95506 ! Primary hypophysitis [Term] id: Orphanet:238329 name: Severe X-linked mitochondrial encephalomyopathy xref: OMIM:300816 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6" xsd:string property_value: alternative:term "Mitochondrial encephalomyopathy due to COXPD6" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date." xsd:string [Term] id: Orphanet:238446 name: 15q11q13 microduplication syndrome xref: ICD10:Q92.3 xref: OMIM:608636 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262950 ! Partial duplication of the long arm of chromosome 15 property_value: alternative:term "15q11-q13 duplication syndrome" xsd:string property_value: alternative:term "15q11-q13 microduplication syndrome" xsd:string property_value: alternative:term "15q11q13 duplication syndrome" xsd:string property_value: alternative:term "Dup(15)(q11q13)" xsd:string property_value: alternative:term "Trisomy 15q11-q13" xsd:string property_value: alternative:term "Trisomy 15q11q13" xsd:string [Term] id: Orphanet:238455 name: Infantile dystonia-parkinsonism xref: OMIM:613135 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:306666 ! Rare parkinsonian syndrome due to neurodegenerative disease relationship: part_of Orphanet:307055 ! Rare parkinsonian syndrome due to genetic neurodegenerative disease relationship: part_of Orphanet:98203 ! Combined dystonia property_value: alternative:term "IPD" xsd:string property_value: alternative:term "PKDYS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal." xsd:string [Term] id: Orphanet:238459 name: SLC35A1-CDG xref: ICD10:E77.8 xref: OMIM:603585 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309526 ! Disorder of multiple glycosylation relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature relationship: part_of Orphanet:371207 ! Congenital disorder of glycosylation with nephropathy as a major feature property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type IIf" xsd:string property_value: alternative:term "CDG syndrome type IIf" xsd:string property_value: alternative:term "CDG-IIf" xsd:string property_value: alternative:term "CDG2F" xsd:string property_value: alternative:term "CMP-sialic acid transporter deficiency" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type 2f" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type IIf" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage." xsd:string [Term] id: Orphanet:238468 name: Hypohidrotic ectodermal dysplasia xref: ICD10:Q82.4 xref: OMIM:129490 xref: OMIM:224900 xref: OMIM:300291 xref: OMIM:305100 xref: OMIM:612132 xref: OMIM:614940 xref: OMIM:614941 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:98604 ! Congenital alacrima property_value: alternative:term "Anhidrotic ectodermal dysplasia" xsd:string property_value: alternative:term "HED" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency) (see these terms)." xsd:string [Term] id: Orphanet:238475 name: Familial hypercholanemia xref: OMIM:607748 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:163631 ! Bile acid synthesis defect with cholestasis and malabsorption property_value: alternative:term "Hereditary hypercholanemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent." xsd:string [Term] id: Orphanet:238505 name: Autosomal recessive lymphoproliferative disease xref: ICD10:D72.8 xref: OMIM:613011 xref: OMIM:615122 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:158038 ! Primary hemophagocytic lymphohistiocytosis relationship: part_of Orphanet:238510 ! Lymphoproliferative syndrome [Term] id: Orphanet:238510 name: Lymphoproliferative syndrome is_a: Orphanet:140162 ! Inherited cancer-predisposing syndrome is_a: Orphanet:169361 ! Immune dysregulation disease with immunodeficiency [Term] id: Orphanet:238517 name: Hypotonia - cystinuria type 1 xref: ICD10:E72.0 is_a: Orphanet:183592 ! Genetic renal tubular disease is_a: Orphanet:369886 ! Homozygous 2p21 microdeletion syndrome is_a: Orphanet:68380 ! Mitochondrial disease is_a: Orphanet:79166 ! Disorder of amino acid absorption and transport is_a: Orphanet:93603 ! Rare renal tubular disease [Term] id: Orphanet:238523 name: Atypical hypotonia - cystinuria syndrome xref: ICD10:E72.0 xref: OMIM:606407 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:238517 ! Hypotonia - cystinuria type 1 property_value: alternative:term "Atypical HCS" xsd:string [Term] id: Orphanet:238536 name: Congenital secondary polycythemia xref: ICD10:D75.1 is_a: Orphanet:98428 ! Secondary polycythemia relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Congenital secondary erythrocytosis" xsd:string [Term] id: Orphanet:238544 name: tetratricopeptide repeat domain 37 xref: ENSEMBL:ENSG00000198677 xref: GENATLAS:TTC37 xref: HGNC:23639 xref: OMIM:614589 xref: UNIPROTKB/SWISSPROT:Q6PGP7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:84064 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Syndromic diarrhea property_value: alternative:term "KIAA0372" xsd:string property_value: symbol "TTC37" xsd:string [Term] id: Orphanet:238547 name: Acquired secondary polycythemia xref: ICD10:D75.1 is_a: Orphanet:98428 ! Secondary polycythemia relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Acquired secondary erythrocytosis" xsd:string [Term] id: Orphanet:238557 name: Chuvash erythrocytosis xref: ICD10:D75.1 xref: OMIM:263400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:238536 ! Congenital secondary polycythemia property_value: alternative:term "Chuvash polycythemia" xsd:string property_value: alternative:term "Von Hippel-Lindau-dependent polycythemia" xsd:string [Term] id: Orphanet:238569 name: Autosomal recessive early-onset inflammatory bowel disease xref: ICD10:K52.8 xref: OMIM:612567 xref: OMIM:613148 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:104012 ! Rare inflammatory bowel disease relationship: part_of Orphanet:165655 ! Genetic intestinal disease property_value: alternative:term "Autosomal recessive early-onset IBD" xsd:string [Term] id: Orphanet:238578 name: Familial clubfoot due to 17q23.1q23.2 microduplication xref: ICD10:Q66.8 xref: OMIM:613618 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:199315 ! Familial clubfoot with or without associated lower limb anomalies relationship: part_of Orphanet:262968 ! Partial duplication of the long arm of chromosome 17 property_value: alternative:term "Hereditary clubfoot due to 17q23.1-q23.2 microduplication" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot." xsd:string [Term] id: Orphanet:238583 name: Hyperphenylalaninemia xref: ICD10:E70.1 xref: OMIM:233910 xref: OMIM:261630 xref: OMIM:261640 xref: OMIM:264070 xref: SNOMED CT:68528007 xref: UMLS:C0751436 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:309819 ! Disorder of pterin metabolism relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "Hyperphenylalaninemia due to BH4 deficiency" xsd:string property_value: alternative:term "Hyperphenylalaninemia due to tetrahydrobiopterin deficiency" xsd:string property_value: alternative:term "Non-phenylketonuric hyperphenylalaninemia" xsd:string [Term] id: Orphanet:238593 name: Sclerosing mesenteritis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:165711 ! Rare abdominal surgical disease property_value: alternative:term "Isolated mesenteric lipodystrophy" xsd:string property_value: alternative:term "Lipomatous mesenteritis" xsd:string property_value: alternative:term "Liposclerotic mesenteritis" xsd:string property_value: alternative:term "Mesenteric lipogranuloma" xsd:string property_value: alternative:term "Mesenteric panniculitis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate)." xsd:string [Term] id: Orphanet:2386 name: Leukoencephalopathy-palmoplantar keratoderma syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:308041 ! Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature [Term] id: Orphanet:238606 name: Primary orthostatic tremor xref: ICD10:G25.2 xref: MESH:C536418 xref: UMLS:C0878578 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:306712 ! Rare tremor disorder property_value: alternative:term "POT" xsd:string [Term] id: Orphanet:238613 name: Beckwith-Wiedemann syndrome due to NSD1 mutation xref: ICD10:Q87.3 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:116 ! Beckwith-Wiedemann syndrome [Term] id: Orphanet:238624 name: Idiopathic intracranial hypertension xref: ICD10:G93.2 xref: OMIM:243200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98006 ! Rare neurologic disease property_value: alternative:term "Benign intracranial hypertension" xsd:string property_value: alternative:term "IIH" xsd:string property_value: alternative:term "Pseudotumor cerebri" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible." xsd:string [Term] id: Orphanet:238637 name: Megacystis-megaureter syndrome xref: ICD10:Q62.7 xref: SNOMED CT:253904001 xref: UMLS:C0431752 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:93546 ! Nonsyndromic renal or urinary tract malformation property_value: alternative:term "Megaureter-megacystis syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Megacystic-megaureter syndrome describes the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition." xsd:string [Term] id: Orphanet:238642 name: Primary megaureter, adult-onset form xref: ICD10:Q62.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:617 ! Congenital primary megaureter [Term] id: Orphanet:238646 name: Congenital primary megaureter, obstructed form xref: ICD10:Q62.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:617 ! Congenital primary megaureter [Term] id: Orphanet:238650 name: Congenital primary megaureter, refluxing form xref: ICD10:Q62.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:617 ! Congenital primary megaureter [Term] id: Orphanet:238654 name: Congenital primary megaureter, nonrefluxing and unobstructed form xref: ICD10:Q62.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:617 ! Congenital primary megaureter [Term] id: Orphanet:238666 name: Isolated congenital hypogonadotropic hypogonadism xref: ICD10:E23.0 is_a: Orphanet:174590 ! Congenital hypogonadotropic hypogonadism [Term] id: Orphanet:238670 name: Isolated thyrotropin-releasing hormone deficiency xref: ICD10:E03.1 xref: OMIM:275120 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:226298 ! Central congenital hypothyroidism property_value: alternative:term "Isolated prothyroliberin deficiency" xsd:string property_value: alternative:term "Isolated protirelin deficiency" xsd:string property_value: alternative:term "Isolated thyroliberin deficiency" xsd:string property_value: alternative:term "Isolated thyrotropin-releasing factor deficiency" xsd:string property_value: alternative:term "Isolated TRF deficiency" xsd:string property_value: alternative:term "Isolated TRH deficiency" xsd:string property_value: alternative:term "Isolated TSH-releasing factor deficiency" xsd:string [Term] id: Orphanet:238688 name: Neonatal iodine exposure xref: ICD10:P72.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:238699 ! Transient congenital hypothyroidism due to neonatal factor [Term] id: Orphanet:238691 name: Congenital liver hemangioma xref: ICD10:D18.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:238699 ! Transient congenital hypothyroidism due to neonatal factor property_value: alternative:term "Congenital hepatic hemangioma" xsd:string [Term] id: Orphanet:238696 name: Transient congenital hypothyroidism due to maternal factor xref: ICD10:P72.2 is_a: Orphanet:178045 ! Transient congenital hypothyroidism [Term] id: Orphanet:238699 name: Transient congenital hypothyroidism due to neonatal factor xref: ICD10:P72.2 is_a: Orphanet:178045 ! Transient congenital hypothyroidism [Term] id: Orphanet:2387 name: Leukonychia totalis xref: ICD10:Q84.4 xref: MESH:C535889 xref: OMIM:151600 xref: UMLS:C0544855 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:79369 ! Isolated nail anomaly [Term] id: Orphanet:238722 name: Familial congenital mirror movements xref: OMIM:157600 xref: OMIM:614508 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102003 ! Rare movement disorder relationship: part_of Orphanet:183521 ! Rare genetic movement disorder property_value: alternative:term "Familial congenital controlateral synkinesia" xsd:string property_value: alternative:term "Hereditary congenital controlateral synkinesia" xsd:string property_value: alternative:term "Hereditary congenital mirror movements" xsd:string property_value: alternative:term "Isolated congenital controlateral synkinesia" xsd:string property_value: alternative:term "Isolated congenital mirror movements" xsd:string [Term] id: Orphanet:238744 name: Mammary-digital-nail syndrome xref: ICD10:Q87.2 xref: OMIM:613689 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:180170 ! Excess breast volume or number relationship: part_of Orphanet:183731 ! Rare genetic gynecological and obstetrical diseases relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects property_value: alternative:term "MDN syndrome" xsd:string property_value: alternative:term "Onycho-digito-mammary syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females." xsd:string [Term] id: Orphanet:238750 name: 4q21 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:613509 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262029 ! Partial deletion of the long arm of chromosome 4 property_value: alternative:term "Del(4)(q21)" xsd:string property_value: alternative:term "Monosomy 4q21" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech." xsd:string [Term] id: Orphanet:238755 name: Autosomal dominant limb-girdle muscular dystrophy type 1H xref: ICD10:G71.0 xref: OMIM:613530 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102014 ! Autosomal dominant limb-girdle muscular dystrophy property_value: alternative:term "LGMD1H" xsd:string [Term] id: Orphanet:238763 name: Glaucoma secondary to spherophakia/ectopia lentis and megalocornea xref: ICD10:Q15.8 xref: OMIM:251750 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:359 ! Hereditary glaucoma property_value: alternative:term "Megalocornea - spherophakia - secondary glaucoma" xsd:string [Term] id: Orphanet:238766 name: Ptosis - syndactyly - learning difficulties is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:238769 name: 1q44 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262001 ! Partial deletion of the long arm of chromosome 1 property_value: alternative:term "Del(1)(q44)" xsd:string property_value: alternative:term "Monosomy 1q44" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia." xsd:string [Term] id: Orphanet:2388 name: Choreoacanthocytosis xref: OMIM:200150 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:225713 ! Other metabolic disease with epilepsy relationship: part_of Orphanet:263440 ! Neuroacanthocytosis relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79359 ! Other epidermis disorder relationship: part_of Orphanet:79360 ! Other genetic epidermal disease property_value: alternative:term "ChAc" xsd:string property_value: alternative:term "Chorea-acanthocytosis" xsd:string property_value: alternative:term "Levine-Critchley syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances." xsd:string [Term] id: Orphanet:2389 name: Lewis-Pashayan syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_1896 with label: EEC syndrome" xsd:string [Term] id: Orphanet:238973 name: interleukin 12 receptor, beta 2 xref: ENSEMBL:ENSG00000081985 xref: GENATLAS:IL12RB2 xref: HGNC:5972 xref: OMIM:601642 xref: UNIPROTKB/SWISSPROT:Q99665 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:117 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Behçet disease property_value: symbol "IL12RB2" xsd:string [Term] id: Orphanet:238991 name: histone deacetylase 4 xref: ENSEMBL:ENSG00000068024 xref: GENATLAS:HDAC4 xref: HGNC:14063 xref: OMIM:605314 xref: REACTOME:P56524 xref: UNIPROTKB/SWISSPROT:P56524 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:1001 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 2q37 microdeletion syndrome property_value: alternative:term "HA6116" xsd:string property_value: alternative:term "HD4" xsd:string property_value: alternative:term "HDAC-4" xsd:string property_value: alternative:term "HDAC-A" xsd:string property_value: alternative:term "HDACA" xsd:string property_value: alternative:term "KIAA0288" xsd:string property_value: symbol "HDAC4" xsd:string [Term] id: Orphanet:238998 name: phosphodiesterase 6G, cGMP-specific, rod, gamma xref: ENSEMBL:ENSG00000185527 xref: GENATLAS:PDE6G xref: HGNC:8789 xref: OMIM:180073 xref: REACTOME:P18545 xref: UNIPROTKB/SWISSPROT:P18545 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "PDEG" xsd:string property_value: symbol "PDE6G" xsd:string [Term] id: Orphanet:239 name: Dyggve-Melchior-Clausen disease xref: ICD10:Q77.7 xref: MESH:C535726 xref: OMIM:223800 xref: OMIM:304950 xref: SNOMED CT:82699004 xref: UMLS:C0265286 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia [Term] id: Orphanet:2390 name: Lichstenstein syndrome xref: OMIM:246550 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:331184 ! Constitutional neutropenia with extra-haematopoietic manifestations [Term] id: Orphanet:239001 name: interphotoreceptor matrix proteoglycan 2 xref: ENSEMBL:ENSG00000081148 xref: GENATLAS:IMPG2 xref: HGNC:18362 xref: OMIM:607056 xref: UNIPROTKB/SWISSPROT:Q9BZV3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "IPM200" xsd:string property_value: symbol "IMPG2" xsd:string [Term] id: Orphanet:239011 name: lysine (K)-specific methyltransferase 2D xref: ENSEMBL:ENSG00000167548 xref: GENATLAS:MLL2 xref: HGNC:7133 xref: OMIM:602113 xref: UNIPROTKB/SWISSPROT:O14686 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2322 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kabuki syndrome property_value: alternative:term "ALR" xsd:string property_value: alternative:term "CAGL114" xsd:string property_value: alternative:term "MLL2" xsd:string property_value: alternative:term "MLL4" xsd:string property_value: alternative:term "Myeloid/lymphoid or mixed-lineage leukemia 2" xsd:string property_value: alternative:term "TNRC21" xsd:string property_value: alternative:term "trinucleotide repeat containing 21" xsd:string property_value: symbol "KMT2D" xsd:string [Term] id: Orphanet:239021 name: twist family bHLH transcription factor 2 xref: ENSEMBL:ENSG00000233608 xref: GENATLAS:TWIST2 xref: HGNC:20670 xref: OMIM:607556 xref: UNIPROTKB/SWISSPROT:Q8WVJ9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79133 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Focal facial dermal dysplasia property_value: alternative:term "bHLHa39" xsd:string property_value: alternative:term "Dermo-1" xsd:string property_value: alternative:term "DERMO1" xsd:string property_value: alternative:term "twist basic helix-loop-helix transcription factor 2" xsd:string property_value: alternative:term "Twist homolog 2 (Drosophila)" xsd:string property_value: symbol "TWIST2" xsd:string [Term] id: Orphanet:2391 name: Congenitally short costocoracoid ligament xref: MESH:C536448 xref: OMIM:122580 xref: UMLS:C1852523 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182108 ! Thoracic malformation [Term] id: Orphanet:2394 name: Pyruvate dehydrogenase E3 deficiency xref: ICD10:E74.4 xref: OMIM:246900 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206966 ! Mitochondrial myopathy relationship: part_of Orphanet:765 ! Pyruvate dehydrogenase deficiency relationship: part_of Orphanet:98486 ! Metabolic myopathy property_value: alternative:term "Dihydrolipoamide dehydrogenase deficiency" xsd:string property_value: alternative:term "DLD deficiency" xsd:string property_value: alternative:term "E3-deficient maple syrup urine disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease." xsd:string [Term] id: Orphanet:2396 name: Encephalocraniocutaneous lipomatosis xref: ICD10:E88.2 xref: MESH:C535736 xref: OMIM:613001 xref: SNOMED CT:238905009 xref: UMLS:C0406612 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183484 ! Genetic subcutaneous tissue disease relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:79382 ! Subcutaneous tissue disease property_value: alternative:term "Haberland syndrome" xsd:string [Term] id: Orphanet:2398 name: Familial symmetric lipomatosis xref: ICD10:E88.8 xref: OMIM:151800 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183484 ! Genetic subcutaneous tissue disease relationship: part_of Orphanet:79382 ! Subcutaneous tissue disease property_value: alternative:term "Central non-encapsulated lipomatosis" xsd:string property_value: alternative:term "Familial benign cervical lipomatosis" xsd:string property_value: alternative:term "Launois-Bensaude adenolipomatosis" xsd:string property_value: alternative:term "Madelung disease" xsd:string [Term] id: Orphanet:239862 name: Spi-B transcription factor (Spi-1/PU.1 related) xref: ENSEMBL:ENSG00000269404 xref: GENATLAS:SPIB xref: HGNC:11242 xref: OMIM:606802 xref: UNIPROTKB/SWISSPROT:Q01892 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:186 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary biliary cirrhosis property_value: alternative:term "SPI-B" xsd:string property_value: symbol "SPIB" xsd:string [Term] id: Orphanet:239865 name: interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) xref: ENSEMBL:ENSG00000168811 xref: GENATLAS:IL12A xref: HGNC:5969 xref: OMIM:161560 xref: UNIPROTKB/SWISSPROT:P29459 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:186 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary biliary cirrhosis property_value: alternative:term "CLMF" xsd:string property_value: alternative:term "cytotoxic lymphocyte maturation factor 1, p35" xsd:string property_value: alternative:term "IL-12, subunit p35" xsd:string property_value: alternative:term "IL-12A" xsd:string property_value: alternative:term "IL35 subunit" xsd:string property_value: alternative:term "interleukin 12, p35" xsd:string property_value: alternative:term "interleukin-12 alpha chain" xsd:string property_value: alternative:term "natural killer cell stimulatory factor 1, 35 kD subunit" xsd:string property_value: alternative:term "NF cell stimulatory factor chain 1" xsd:string property_value: alternative:term "NFSK" xsd:string property_value: alternative:term "NKSF1" xsd:string property_value: alternative:term "p35" xsd:string property_value: symbol "IL12A" xsd:string [Term] id: Orphanet:239872 name: interferon regulatory factor 5 xref: ENSEMBL:ENSG00000128604 xref: GENATLAS:IRF5 xref: HGNC:6120 xref: OMIM:607218 xref: REACTOME:Q13568 xref: UNIPROTKB/SWISSPROT:Q13568 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:186 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary biliary cirrhosis relationship: Orphanet:317345 Orphanet:220393 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Diffuse cutaneous systemic sclerosis relationship: Orphanet:317345 Orphanet:220402 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Limited cutaneous systemic sclerosis property_value: symbol "IRF5" xsd:string [Term] id: Orphanet:239874 name: transportin 3 xref: ENSEMBL:ENSG00000064419 xref: GENATLAS:TNPO3 xref: HGNC:17103 xref: OMIM:610032 xref: UNIPROTKB/SWISSPROT:Q9Y5L0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:55595 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant limb-girdle muscular dystrophy type 1F relationship: Orphanet:317345 Orphanet:186 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary biliary cirrhosis property_value: alternative:term "importin 12" xsd:string property_value: alternative:term "IPO12" xsd:string property_value: alternative:term "MTR10A" xsd:string property_value: alternative:term "TRN-SR" xsd:string property_value: alternative:term "TRN-SR2" xsd:string property_value: symbol "TNPO3" xsd:string [Term] id: Orphanet:239881 name: membrane metallo-endopeptidase-like 1 xref: ENSEMBL:ENSG00000142606 xref: GENATLAS:MMEL1 xref: HGNC:14668 xref: UNIPROTKB/SWISSPROT:Q495T6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:186 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary biliary cirrhosis property_value: alternative:term "membrane metallo-endopeptidase-like 2" xsd:string property_value: alternative:term "MMEL2" xsd:string property_value: alternative:term "NEPII" xsd:string property_value: alternative:term "NL1" xsd:string property_value: alternative:term "NL2" xsd:string property_value: alternative:term "SEP" xsd:string property_value: symbol "MMEL1" xsd:string [Term] id: Orphanet:239888 name: nuclear factor I/X (CCAAT-binding transcription factor) xref: ENSEMBL:ENSG00000008441 xref: GENATLAS:NFIX xref: HGNC:7788 xref: OMIM:164005 xref: REACTOME:Q14938 xref: UNIPROTKB/SWISSPROT:Q14938 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:561 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Marshall-Smith syndrome relationship: Orphanet:317343 Orphanet:821 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sotos syndrome property_value: alternative:term "NF1A" xsd:string property_value: symbol "NFIX" xsd:string [Term] id: Orphanet:239891 name: paraoxonase 1 xref: ENSEMBL:ENSG00000005421 xref: GENATLAS:PON1 xref: HGNC:9204 xref: OMIM:168820 xref: UNIPROTKB/SWISSPROT:P27169 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis property_value: alternative:term "ESA" xsd:string property_value: alternative:term "esterase A" xsd:string property_value: alternative:term "PON" xsd:string property_value: symbol "PON1" xsd:string [Term] id: Orphanet:239894 name: paraoxonase 2 xref: ENSEMBL:ENSG00000105854 xref: GENATLAS:PON2 xref: HGNC:9205 xref: OMIM:602447 xref: UNIPROTKB/SWISSPROT:Q15165 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis property_value: alternative:term "paraoxonase nirs" xsd:string property_value: symbol "PON2" xsd:string [Term] id: Orphanet:239896 name: paraoxonase 3 xref: ENSEMBL:ENSG00000105852 xref: GENATLAS:PON3 xref: HGNC:9206 xref: OMIM:602720 xref: UNIPROTKB/SWISSPROT:Q15166 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis property_value: symbol "PON3" xsd:string [Term] id: Orphanet:239898 name: PDZ domain containing 7 xref: ENSEMBL:ENSG00000186862 xref: GENATLAS:PDZD7 xref: HGNC:26257 xref: OMIM:612971 xref: UNIPROTKB/SWISSPROT:Q9H5P4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317346 Orphanet:231178 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Usher syndrome type 2 property_value: alternative:term "bA108L7.8" xsd:string property_value: alternative:term "FLJ23209" xsd:string property_value: alternative:term "PDZK7" xsd:string property_value: symbol "PDZD7" xsd:string [Term] id: Orphanet:2399 name: Nasopalpebral lipoma - coloboma - telecanthus xref: ICD10:Q10.3 xref: OMIM:167730 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:98566 ! Syndromic palpebral coloboma [Term] id: Orphanet:239943 name: TBC1 domain family, member 24 xref: ENSEMBL:ENSG00000162065 xref: GENATLAS:TBC1D24 xref: HGNC:29203 xref: OMIM:613577 xref: UNIPROTKB/SWISSPROT:Q9ULP9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:293181 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Malignant migrating partial seizures of infancy relationship: Orphanet:317343 Orphanet:352582 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial infantile myoclonic epilepsy relationship: Orphanet:317343 Orphanet:352587 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Focal epilepsy - intellectual deficit - cerebro-cerebellar malformation relationship: Orphanet:317343 Orphanet:352596 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive myoclonic epilepsy with dystonia relationship: Orphanet:317343 Orphanet:79500 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive deafness-onychodystrophy syndrome property_value: alternative:term "KIAA1171" xsd:string property_value: alternative:term "TBC/LysM-associated domain containing 6" xsd:string property_value: alternative:term "TLDC6" xsd:string property_value: symbol "TBC1D24" xsd:string [Term] id: Orphanet:239949 name: WD repeat domain 62 xref: ENSEMBL:ENSG00000075702 xref: GENATLAS:WDR62 xref: HGNC:24502 xref: OMIM:613583 xref: UNIPROTKB/SWISSPROT:O43379 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2512 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive primary microcephaly property_value: alternative:term "C19orf14" xsd:string property_value: alternative:term "chromosome 19 open reading frame 14" xsd:string property_value: alternative:term "DKFZP434J046" xsd:string property_value: alternative:term "FLJ33298" xsd:string property_value: alternative:term "MCPH2" xsd:string property_value: alternative:term "microcephaly, primary autosomal recessive 2" xsd:string property_value: symbol "WDR62" xsd:string [Term] id: Orphanet:239955 name: WD repeat domain 35 xref: ENSEMBL:ENSG00000118965 xref: GENATLAS:WDR35 xref: HGNC:29250 xref: OMIM:613602 xref: UNIPROTKB/SWISSPROT:Q9P2L0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1515 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cranioectodermal dysplasia relationship: Orphanet:317343 Orphanet:93271 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Short rib-polydactyly syndrome, Verma-Naumoff type property_value: alternative:term "IFT121" xsd:string property_value: alternative:term "KIAA1336" xsd:string property_value: alternative:term "MGC33196" xsd:string property_value: symbol "WDR35" xsd:string [Term] id: Orphanet:239959 name: occludin xref: ENSEMBL:ENSG00000197822 xref: GENATLAS:OCLN xref: HGNC:8104 xref: OMIM:602876 xref: REACTOME:Q16625 xref: UNIPROTKB/SWISSPROT:Q16625 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1229 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital intrauterine infection-like syndrome property_value: alternative:term "tight junction protein occludin TM4 minus" xsd:string property_value: symbol "OCLN" xsd:string [Term] id: Orphanet:239962 name: family with sequence similarity 161, member A xref: ENSEMBL:ENSG00000170264 xref: GENATLAS:FAM161A xref: HGNC:25808 xref: OMIM:613596 xref: UNIPROTKB/SWISSPROT:Q3B820 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "FLJ13305" xsd:string property_value: alternative:term "retinitis pigmentosa 28 (autosomal recessive)" xsd:string property_value: alternative:term "RP28" xsd:string property_value: symbol "FAM161A" xsd:string [Term] id: Orphanet:239967 name: zinc finger protein 513 xref: ENSEMBL:ENSG00000163795 xref: GENATLAS:ZNF513 xref: HGNC:26498 xref: OMIM:613598 xref: UNIPROTKB/SWISSPROT:Q8N8E2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "FLJ32203" xsd:string property_value: symbol "ZNF513" xsd:string [Term] id: Orphanet:239970 name: abhydrolase domain containing 12 xref: ENSEMBL:ENSG00000100997 xref: GENATLAS:ABHD12 xref: HGNC:15868 xref: OMIM:613599 xref: UNIPROTKB/SWISSPROT:Q8N2K0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171848 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract property_value: alternative:term "ABHD12A" xsd:string property_value: alternative:term "BEM46L2" xsd:string property_value: alternative:term "C20orf22" xsd:string property_value: alternative:term "chromosome 20 open reading frame 22" xsd:string property_value: alternative:term "dJ965G21.2" xsd:string property_value: alternative:term "DKFZP434P106" xsd:string property_value: symbol "ABHD12" xsd:string [Term] id: Orphanet:24 name: Fumaric aciduria xref: ICD10:E88.8 xref: MESH:C538191 xref: OMIM:606812 xref: SNOMED CT:124616002 xref: SNOMED CT:237983002 xref: UMLS:C0342770 xref: UMLS:C2936826 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:225700 ! Mitochondrial disease with epilepsy relationship: part_of Orphanet:225703 ! Mitochondrial disease with peripheral neuropathy relationship: part_of Orphanet:254749 ! Tricarboxylic acid cycle disorder relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "Fumarase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment." xsd:string [Term] id: Orphanet:240 name: Léri-Weill dyschondrosteosis xref: ICD10:Q77.8 xref: MESH:C537119 xref: OMIM:127300 xref: SNOMED CT:17818006 xref: UMLS:C0265309 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93438 ! Mesomelic and rhizo-mesomelic dysplasia property_value: alternative:term "Léri-Weill syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term)." xsd:string [Term] id: Orphanet:2400 name: Peripheral motor neuropathy - dysautonomia xref: MESH:C536988 xref: OMIM:252320 xref: UMLS:C1854961 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:182058 ! Primary orthostatic hypotension property_value: alternative:term "Lisker-Garcia-Ramos syndrome" xsd:string [Term] id: Orphanet:240071 name: Classical progressive supranuclear palsy xref: ICD10:G23.1 xref: OMIM:601104 xref: OMIM:609454 xref: OMIM:610898 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:683 ! Progressive supranuclear palsy property_value: alternative:term "Classical PSP" xsd:string property_value: alternative:term "Richardson syndrome" xsd:string property_value: alternative:term "Steele-Richardson-Olszewski disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." xsd:string [Term] id: Orphanet:240085 name: Progressive supranuclear palsy - parkinsonism xref: ICD10:G23.1 xref: OMIM:260540 is_a: Orphanet:99750 ! Atypical progressive supranuclear palsy relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "PSP-p" xsd:string property_value: alternative:term "PSP-parkinsonism" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." xsd:string [Term] id: Orphanet:240094 name: Progressive supranuclear palsy - pure akinesia with gait freezing xref: ICD10:G23.1 is_a: Orphanet:99750 ! Atypical progressive supranuclear palsy relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "PSP-PAGF" xsd:string property_value: alternative:term "PSP-pure akinesia with gait freezing" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." xsd:string [Term] id: Orphanet:240103 name: Progressive supranuclear palsy - corticobasal syndrome xref: ICD10:G23.1 is_a: Orphanet:99750 ! Atypical progressive supranuclear palsy relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 property_value: alternative:term "PSP-CBS" xsd:string property_value: alternative:term "PSP-corticobasal syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease." xsd:string [Term] id: Orphanet:240112 name: Progressive supranuclear palsy - progressive non fluent aphasia xref: ICD10:G23.1 is_a: Orphanet:99750 ! Atypical progressive supranuclear palsy relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 property_value: alternative:term "Progressive supranuclear palsy - apraxia of speech" xsd:string property_value: alternative:term "PSP-AOS" xsd:string property_value: alternative:term "PSP-PNFA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP." xsd:string [Term] id: Orphanet:240266 name: Systemic non-Langerhans cell histiocytosis xref: ICD10:D76.3 is_a: Orphanet:182222 ! Rare systemic disease [Term] id: Orphanet:240371 name: Syndromic obesity is_a: Orphanet:139024 ! Overgrowth/obesity syndrome is_a: Orphanet:77828 ! Genetic obesity [Term] id: Orphanet:2404 name: Loiasis xref: ICD10:B74.3 xref: MESH:D008118 xref: SNOMED CT:44250009 xref: UMLS:C0023968 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2034 ! Filariasis [Term] id: Orphanet:2405 name: Thickened earlobes - conductive deafness xref: OMIM:128980 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Escher-Hirt syndrome" xsd:string [Term] id: Orphanet:2406 name: Locked-in syndrome xref: ICD10:G83.8 xref: MEDDRA:10024792 xref: SNOMED CT:38023001 xref: UMLS:C0023944 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98006 ! Rare neurologic disease property_value: alternative:term "Cerebromedullospinal disconnection" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking." xsd:string [Term] id: Orphanet:240651 name: G-protein signaling modulator 2 xref: ENSEMBL:ENSG00000121957 xref: GENATLAS:GPSM2 xref: HGNC:29501 xref: OMIM:609245 xref: UNIPROTKB/SWISSPROT:P81274 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314597 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chudley-McCullough syndrome relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "deafness, autosomal recessive 82" xsd:string property_value: alternative:term "DFNB82" xsd:string property_value: alternative:term "G-protein signalling modulator 2 (AGS3-like, C. elegans)" xsd:string property_value: alternative:term "LGN" xsd:string property_value: alternative:term "Pins" xsd:string property_value: symbol "GPSM2" xsd:string [Term] id: Orphanet:240658 name: tyrosyl-tRNA synthetase 2, mitochondrial xref: ENSEMBL:ENSG00000139131 xref: GENATLAS:YARS2 xref: HGNC:24249 xref: OMIM:610957 xref: REACTOME:Q9Y2Z4 xref: UNIPROTKB/SWISSPROT:Q9Y2Z4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2598 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial myopathy and sideroblastic anemia property_value: alternative:term "CGI-04" xsd:string property_value: alternative:term "FLJ13995" xsd:string property_value: alternative:term "mt-TyrRS" xsd:string property_value: alternative:term "tyrosine tRNA ligase 2, mitochondrial" xsd:string property_value: symbol "YARS2" xsd:string [Term] id: Orphanet:240663 name: Kruppel-like factor 1 (erythroid) xref: ENSEMBL:ENSG00000105610 xref: GENATLAS:KLF1 xref: HGNC:6345 xref: OMIM:600599 xref: UNIPROTKB/SWISSPROT:Q13351 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:251380 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary persistence of fetal hemoglobin - sickle cell disease relationship: Orphanet:317343 Orphanet:293825 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital dyserythropoietic anemia type IV relationship: Orphanet:317343 Orphanet:46532 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary persistence of fetal hemoglobin - beta-thalassemia property_value: alternative:term "EKLF" xsd:string property_value: alternative:term "erythroid Kruppel-like factor" xsd:string property_value: symbol "KLF1" xsd:string [Term] id: Orphanet:240669 name: centrosomal protein 152kDa xref: ENSEMBL:ENSG00000103995 xref: GENATLAS:CEP152 xref: HGNC:29298 xref: OMIM:613529 xref: REACTOME:O94986 xref: UNIPROTKB/SWISSPROT:O94986 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2512 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive primary microcephaly relationship: Orphanet:317343 Orphanet:808 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Seckel syndrome property_value: alternative:term "asterless" xsd:string property_value: alternative:term "KIAA0912" xsd:string property_value: alternative:term "MCPH4" xsd:string property_value: alternative:term "microcephaly, primary autosomal recessive 4" xsd:string property_value: alternative:term "SCKL5" xsd:string property_value: symbol "CEP152" xsd:string [Term] id: Orphanet:240672 name: apolipoprotein L, 1 xref: ENSEMBL:ENSG00000100342 xref: GENATLAS:APOL1 xref: HGNC:618 xref: OMIM:603743 xref: REACTOME:O14791 xref: UNIPROTKB/SWISSPROT:O14791 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93218 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis property_value: alternative:term "APOL" xsd:string property_value: symbol "APOL1" xsd:string [Term] id: Orphanet:240686 name: chromobox homolog 2 xref: ENSEMBL:ENSG00000173894 xref: GENATLAS:CBX2 xref: HGNC:1552 xref: OMIM:602770 xref: REACTOME:Q14781 xref: UNIPROTKB/SWISSPROT:Q14781 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:242 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XY complete gonadal dysgenesis property_value: alternative:term "CDCA6" xsd:string property_value: alternative:term "cell division cycle associated 6" xsd:string property_value: alternative:term "chromobox homolog 2 (Drosophila Pc class)" xsd:string property_value: alternative:term "MGC10561" xsd:string property_value: alternative:term "Pc class homolog (Drosophila)" xsd:string property_value: symbol "CBX2" xsd:string [Term] id: Orphanet:240691 name: Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 xref: ENSEMBL:ENSG00000164442 xref: GENATLAS:CITED2 xref: HGNC:1987 xref: OMIM:602937 xref: UNIPROTKB/SWISSPROT:Q99967 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1480 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ventricular septal defect relationship: Orphanet:317343 Orphanet:99103 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atrial septal defect, ostium secundum type relationship: Orphanet:317343 Orphanet:99105 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atrial septal defect, sinus venosus type relationship: Orphanet:317345 Orphanet:101063 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Situs inversus totalis relationship: Orphanet:317345 Orphanet:3303 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Tetralogy of Fallot relationship: Orphanet:317345 Orphanet:99097 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Single ventricular septal defect property_value: alternative:term "MRG1" xsd:string property_value: symbol "CITED2" xsd:string [Term] id: Orphanet:2407 name: LOC syndrome xref: ICD10:Q81.8 xref: OMIM:245660 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108993 ! Nonsyndromic respiratory or mediastinal malformation relationship: part_of Orphanet:108995 ! Syndromic respiratory or mediastinal malformation relationship: part_of Orphanet:182111 ! Respiratory malformation relationship: part_of Orphanet:183622 ! Genetic respiratory malformation relationship: part_of Orphanet:263676 ! Hereditary epidermolysis bullosa associated with ocular features relationship: part_of Orphanet:305 ! Junctional epidermolysis bullosa property_value: alternative:term "Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome" xsd:string property_value: alternative:term "Laryngo-onycho-cutaneous syndrome" xsd:string property_value: alternative:term "LOGIC syndrome" xsd:string property_value: alternative:term "Shabbir syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites." xsd:string [Term] id: Orphanet:240760 name: Nijmegen breakage syndrome-like disorder xref: OMIM:613078 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:169346 ! DNA repair defect other than combined T-cell and B-cell immunodeficiencies relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Microcephaly and chromosomal instability without immunodeficiency" xsd:string property_value: alternative:term "NBS-like disorder" xsd:string property_value: alternative:term "NBSLD" xsd:string property_value: alternative:term "RAD50 deficiency" xsd:string [Term] id: Orphanet:2408 name: Lowe-Kohn-Cohen syndrome xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Deafness - nephritis - ano-rectal malformation" xsd:string [Term] id: Orphanet:2409 name: Lowry-MacLean syndrome xref: ICD10:Q87.8 xref: MESH:C537037 xref: OMIM:600252 xref: UMLS:C0796020 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations." xsd:string [Term] id: Orphanet:241 name: Dyschromatosis universalis xref: ICD10:L81.8 xref: OMIM:127500 xref: OMIM:612715 xref: OMIM:615402 xref: SNOMED CT:239082002 xref: UMLS:C1306229 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin [Term] id: Orphanet:2410 name: Hypergonadotropic hypogonadism - cataract syndrome xref: OMIM:240950 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:181441 ! Non-hypogonadotropic hypogonadism relationship: part_of Orphanet:98641 ! Syndromic cataract property_value: alternative:term "Lubinsky syndrome" xsd:string [Term] id: Orphanet:2412 name: Dislocation of the hip - dysmorphism xref: ICD10:Q87.2 xref: OMIM:601450 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Collins-Pope syndrome" xsd:string [Term] id: Orphanet:2414 name: Congenital pulmonary lymphangiectasia xref: ICD10:Q33.8 xref: MESH:C537727 xref: OMIM:265300 xref: SNOMED CT:45142002 xref: UMLS:C0265800 xref: UMLS:C1849554 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108993 ! Nonsyndromic respiratory or mediastinal malformation relationship: part_of Orphanet:182111 ! Respiratory malformation relationship: part_of Orphanet:264683 ! Primary interstitial lung disease specific to childhood due to alveolar vascular disorder relationship: part_of Orphanet:264992 ! Genetic interstitial lung disease relationship: part_of Orphanet:89832 ! Syndromic lymphedema property_value: alternative:term "Pulmonary lymphangiomatosis" xsd:string [Term] id: Orphanet:2415 name: Lymphatic malformation xref: ICD10:D18.1 xref: SNOMED CT:234095009 is_a: Orphanet:211255 ! Lymphatic system malformation is_a: Orphanet:79386 ! Rare skin tumor or hamartoma relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 property_value: alternative:term "LM" xsd:string property_value: alternative:term "Lymphangioma" xsd:string [Term] id: Orphanet:2416 name: Congenital primary lymphedema xref: ICD10:Q82.0 is_a: Orphanet:77240 ! Primary lymphedema is_a: Orphanet:98614 ! Conjunctival lymphangiectasia relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital primary lymphedema is a form of primary lymphedema (see this term) characterized by onset of lymphedema before the age of one year in patients with no systemic or syndromic findings." xsd:string [Term] id: Orphanet:2419 name: Lymphedema - ptosis is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_33001 with label: Lymphedema - distichiasis" xsd:string [Term] id: Orphanet:241992 name: catechol-O-methyltransferase xref: ENSEMBL:ENSG00000093010 xref: GENATLAS:COMT xref: HGNC:2228 xref: IUPHAR:2472 xref: OMIM:116790 xref: REACTOME:P21964 xref: UNIPROTKB/SWISSPROT:P21964 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:567 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 22q11.2 deletion syndrome property_value: symbol "COMT" xsd:string [Term] id: Orphanet:241999 name: solute carrier organic anion transporter family, member 1B1 xref: ENSEMBL:ENSG00000134538 xref: GENATLAS:SLCO1B1 xref: HGNC:10959 xref: OMIM:604843 xref: REACTOME:Q9Y6L6 xref: UNIPROTKB/SWISSPROT:Q9Y6L6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3111 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rotor syndrome property_value: alternative:term "LST-1" xsd:string property_value: alternative:term "OATP-C" xsd:string property_value: alternative:term "OATP1B1" xsd:string property_value: alternative:term "SLC21A6" xsd:string property_value: alternative:term "solute carrier family 21 (organic anion transporter), member 6" xsd:string property_value: symbol "SLCO1B1" xsd:string [Term] id: Orphanet:242 name: 46,XY complete gonadal dysgenesis xref: ICD10:Q97.3 xref: OMIM:154230 xref: OMIM:233420 xref: OMIM:300018 xref: OMIM:400044 xref: OMIM:612965 xref: OMIM:613080 xref: OMIM:613762 xref: SNOMED CT:95218005 xref: UMLS:C2936694 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:217595 ! Syndrome associated with hypertrophic cardiomyopathy relationship: part_of Orphanet:325118 ! 46,XY disorder of gonadal development relationship: part_of Orphanet:89832 ! Syndromic lymphedema relationship: part_of Orphanet:98074 ! Gonadal dysgenesis of gynecological interest property_value: alternative:term "46,XY CGD" xsd:string property_value: alternative:term "46,XY pure gonadal dysgenesis" xsd:string property_value: alternative:term "Swyer syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype." xsd:string [Term] id: Orphanet:2420 name: Primary pulmonary lymphoma xref: ICD10:C85.9 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101945 ! Rare bronchopulmonary tumor relationship: part_of Orphanet:279911 ! Primary organ-specific lymphoma [Term] id: Orphanet:242004 name: RAD50 homolog (S. cerevisiae) xref: ENSEMBL:ENSG00000113522 xref: GENATLAS:RAD50 xref: HGNC:9816 xref: OMIM:604040 xref: REACTOME:Q92878 xref: UNIPROTKB/SWISSPROT:Q92878 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:145 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary breast and ovarian cancer syndrome relationship: Orphanet:317343 Orphanet:240760 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nijmegen breakage syndrome-like disorder property_value: alternative:term "hRad50" xsd:string property_value: alternative:term "RAD50 (S. cerevisiae) homolog" xsd:string property_value: alternative:term "RAD50-2" xsd:string property_value: symbol "RAD50" xsd:string [Term] id: Orphanet:242313 name: 4-hydroxy-2-oxoglutarate aldolase 1 xref: ENSEMBL:ENSG00000241935 xref: GENATLAS:DHDPSL xref: HGNC:25155 xref: OMIM:613597 xref: UNIPROTKB/SWISSPROT:Q86XE5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93600 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary hyperoxaluria type 3 property_value: alternative:term "C10orf65" xsd:string property_value: alternative:term "chromosome 10 open reading frame 65" xsd:string property_value: alternative:term "DHDPS2" xsd:string property_value: alternative:term "DHDPSL" xsd:string property_value: alternative:term "Dihydrodipicolinate synthase-like, mitochondrial" xsd:string property_value: alternative:term "dihydrodipicolinate synthetase homolog 2 (E. coli)" xsd:string property_value: alternative:term "FLJ37472" xsd:string property_value: alternative:term "N-acetylneuraminate pyruvate lyase 2 (putative)" xsd:string property_value: alternative:term "NPL2" xsd:string property_value: symbol "HOGA1" xsd:string [Term] id: Orphanet:242325 name: dispatched homolog 1 (Drosophila) xref: ENSEMBL:ENSG00000154309 xref: GENATLAS:DISP1 xref: HGNC:19711 xref: OMIM:607502 xref: UNIPROTKB/SWISSPROT:Q96F81 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220386 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Semilobar holoprosencephaly relationship: Orphanet:317343 Orphanet:280195 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Septopreoptic holoprosencephaly relationship: Orphanet:317343 Orphanet:280200 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microform holoprosencephaly relationship: Orphanet:317343 Orphanet:93924 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93925 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93926 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Midline interhemispheric variant of holoprosencephaly property_value: alternative:term "DISPA" xsd:string property_value: alternative:term "DKFZP434I0428" xsd:string property_value: alternative:term "MGC13130" xsd:string property_value: alternative:term "MGC16796" xsd:string property_value: symbol "DISP1" xsd:string [Term] id: Orphanet:242331 name: sulfatase 1 xref: ENSEMBL:ENSG00000137573 xref: GENATLAS:SULF1 xref: HGNC:20391 xref: OMIM:610012 xref: UNIPROTKB/SWISSPROT:Q8IWU6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:2496 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mesomelia-synostoses syndrome property_value: alternative:term "KIAA1077" xsd:string property_value: alternative:term "SULF-1" xsd:string property_value: symbol "SULF1" xsd:string [Term] id: Orphanet:242335 name: solute carrier organic anion transporter family, member 5A1 xref: ENSEMBL:ENSG00000137571 xref: GENATLAS:SLCO5A1 xref: HGNC:19046 xref: OMIM:613543 xref: UNIPROTKB/SWISSPROT:Q9H2Y9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:2496 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mesomelia-synostoses syndrome property_value: alternative:term "OATP-J" xsd:string property_value: alternative:term "OATP5A1" xsd:string property_value: alternative:term "OATPRP4" xsd:string property_value: alternative:term "SLC21A15" xsd:string property_value: alternative:term "solute carrier family 21 (organic anion transporter), member 15" xsd:string property_value: symbol "SLCO5A1" xsd:string [Term] id: Orphanet:2427 name: Macrocephaly - short stature - paraplegia is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:269546 ! Syndrome with a Dandy-Walker malformation as major feature property_value: alternative:term "Volcke-Soekarman syndrome" xsd:string [Term] id: Orphanet:2429 name: Macrocephaly - spastic paraplegia - dysmorphism xref: ICD10:Q87.0 xref: OMIM:600302 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:320346 ! Pure or complex autosomal recessive spastic paraplegia property_value: alternative:term "Fryns macrocephaly" xsd:string [Term] id: Orphanet:242915 name: Cbl proto-oncogene, E3 ubiquitin protein ligase xref: ENSEMBL:ENSG00000110395 xref: GENATLAS:CBL xref: HGNC:1541 xref: OMIM:165360 xref: REACTOME:P22681 xref: UNIPROTKB/SWISSPROT:P22681 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363972 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Noonan syndrome-like disorder with juvenile myelomonocytic leukemia relationship: Orphanet:317345 Orphanet:86834 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Juvenile myelomonocytic leukemia property_value: alternative:term "c-Cbl" xsd:string property_value: alternative:term "Cas-Br-M (murine) ecotropic retroviral transforming sequence" xsd:string property_value: alternative:term "CBL2" xsd:string property_value: alternative:term "oncogene CBL2" xsd:string property_value: alternative:term "RNF55" xsd:string property_value: symbol "CBL" xsd:string [Term] id: Orphanet:242919 name: steroid 5 alpha-reductase 3 xref: ENSEMBL:ENSG00000128039 xref: GENATLAS:SRD5A3 xref: HGNC:25812 xref: OMIM:611715 xref: REACTOME:Q9H8P0 xref: UNIPROTKB/SWISSPROT:Q9H8P0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:324737 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! SRD5A3-CDG property_value: alternative:term "FLJ13352" xsd:string property_value: alternative:term "SRD5A2L" xsd:string property_value: alternative:term "SRD5A2L1" xsd:string property_value: symbol "SRD5A3" xsd:string [Term] id: Orphanet:242924 name: tight junction protein 2 xref: ENSEMBL:ENSG00000119139 xref: GENATLAS:TJP2 xref: HGNC:11828 xref: OMIM:607709 xref: REACTOME:Q9UDY2 xref: UNIPROTKB/SWISSPROT:Q9UDY2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:238475 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hypercholanemia relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA property_value: alternative:term "deafness, autosomal dominant 51" xsd:string property_value: alternative:term "DFNA51" xsd:string property_value: alternative:term "Friedreich ataxia region gene X104 (tight junction protein ZO-2)" xsd:string property_value: alternative:term "Tight junction protein 2 (zona occludens 2)" xsd:string property_value: alternative:term "X104" xsd:string property_value: alternative:term "ZO-2" xsd:string property_value: alternative:term "ZO2" xsd:string property_value: alternative:term "zona occludens 2" xsd:string property_value: symbol "TJP2" xsd:string [Term] id: Orphanet:242929 name: chromosome 12 open reading frame 65 xref: ENSEMBL:ENSG00000130921 xref: GENATLAS:C12orf65 xref: HGNC:26784 xref: OMIM:613541 xref: UNIPROTKB/SWISSPROT:Q9H3J6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:254930 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined oxidative phosphorylation defect type 7 relationship: Orphanet:317343 Orphanet:320375 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 55 property_value: alternative:term "FLJ38663" xsd:string property_value: alternative:term "SPG55" xsd:string property_value: symbol "C12ORF65" xsd:string [Term] id: Orphanet:243 name: 46,XX gonadal dysgenesis xref: ICD10:Q99.1 xref: MESH:D023961 xref: OMIM:233300 xref: OMIM:300510 xref: OMIM:614324 xref: SNOMED CT:95198001 xref: UMLS:C0685837 xref: UMLS:C0949595 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:325055 ! 46,XX disorder of gonadal development relationship: part_of Orphanet:95710 ! Non-acquired premature ovarian failure relationship: part_of Orphanet:98074 ! Gonadal dysgenesis of gynecological interest property_value: alternative:term "46,XX complete gonadal dysgenesis" xsd:string property_value: alternative:term "46,XX ovarian dysgenesis" xsd:string property_value: alternative:term "46,XX pure gonadal dysgenesis" xsd:string property_value: alternative:term "Follicular stimulating hormone-resistant ovaries" xsd:string property_value: alternative:term "FSH-RO" xsd:string property_value: alternative:term "Hypergonadotropic ovarian dysgenesis" xsd:string property_value: alternative:term "XX female gonadal dysgenesis" xsd:string property_value: alternative:term "XX-GD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF; see this term) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation." xsd:string [Term] id: Orphanet:2430 name: Congenital macroglossia xref: ICD10:Q38.2 xref: MESH:C531735 xref: OMIM:153630 xref: SNOMED CT:270516002 xref: UMLS:C0009677 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:156207 ! Macroglossia [Term] id: Orphanet:2431 name: Central bilateral macrogyria xref: ICD10:Q04.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:268950 ! Cerebral cortical dysplasia [Term] id: Orphanet:2432 name: Macrosomia - microphthalmia - cleft palate xref: ICD10:Q87.3 xref: OMIM:248110 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Teebi-Al Saleh-Hassoon syndrome" xsd:string [Term] id: Orphanet:243343 name: Dimethylglycine dehydrogenase deficiency xref: ICD10:E72.5 xref: OMIM:605850 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79194 ! Disorder of serine or glycine metabolism property_value: alternative:term "DMG dehydrogenase deficiency" xsd:string property_value: alternative:term "DMGDH deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor." xsd:string [Term] id: Orphanet:243367 name: Acute fatty liver of pregnancy xref: ICD10:O26.6 xref: MEDDRA:10000746 xref: MESH:C537957 xref: SNOMED CT:91162000 xref: UMLS:C1455728 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:101939 ! Rare parenchymatous liver disease relationship: part_of Orphanet:163637 ! Rare disorder related with pregnancy, childbirth and puerperium property_value: alternative:term "AFLP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy." xsd:string [Term] id: Orphanet:2435 name: Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual deficiency xref: OMIM:154000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:183463 ! Genetic pigmentation anomaly of the skin relationship: part_of Orphanet:79374 ! Pigmentation anomaly of the skin property_value: alternative:term "Westerhof-Beemer-Cormane syndrome" xsd:string [Term] id: Orphanet:2437 name: Split hand - urinary anomalies - spina bifida xref: ICD10:Q87.8 xref: OMIM:183802 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Czeizel-Losonci syndrome" xsd:string [Term] id: Orphanet:2438 name: Hand-foot-genital syndrome xref: ICD10:Q51.2 xref: OMIM:140000 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:180148 ! Syndromic uterovaginal malformation relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: alternative:term "Hand-foot-uterus syndrome" xsd:string property_value: alternative:term "HFGS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects." xsd:string [Term] id: Orphanet:2439 name: Patterson-Stevenson-Fontaine syndrome xref: ICD10:Q87.0 xref: OMIM:183700 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:364574 ! Acrofacial dysostosis property_value: alternative:term "Patterson-Stevenson syndrome" xsd:string property_value: alternative:term "Split foot deformity - mandibulofacial dysostosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies." xsd:string [Term] id: Orphanet:244 name: Primary ciliary dyskinesia xref: ICD10:J98.0 xref: MEDDRA:10069713 xref: OMIM:215518 xref: OMIM:215520 xref: OMIM:242670 xref: OMIM:242680 xref: OMIM:244400 xref: OMIM:606763 xref: OMIM:608644 xref: OMIM:608646 xref: OMIM:608647 xref: OMIM:610852 xref: OMIM:611884 xref: OMIM:612274 xref: OMIM:612444 xref: OMIM:612518 xref: OMIM:612649 xref: OMIM:612650 xref: OMIM:613193 xref: OMIM:613807 xref: OMIM:613808 xref: OMIM:614017 xref: OMIM:614679 xref: OMIM:614874 xref: OMIM:614935 xref: OMIM:615067 xref: OMIM:615294 xref: OMIM:615444 xref: OMIM:615451 xref: OMIM:615481 xref: OMIM:615482 xref: OMIM:615500 xref: OMIM:615504 xref: OMIM:615505 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:101944 ! Rare pulmonary disease relationship: part_of Orphanet:156610 ! Rare genetic respiratory disease relationship: part_of Orphanet:98048 ! Rare male infertility property_value: alternative:term "Immotile cilia syndrome" xsd:string [Term] id: Orphanet:2440 name: Split hand-split foot malformation xref: ICD10:Q71.6 xref: ICD10:Q72.7 xref: OMIM:183600 xref: OMIM:225300 xref: OMIM:246560 xref: OMIM:313350 xref: OMIM:605289 xref: OMIM:606708 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:294935 ! Split hand or/and split foot malformation property_value: alternative:term "Ectrodactyly" xsd:string property_value: alternative:term "Lobster-claw deformity" xsd:string property_value: alternative:term "SHFM" xsd:string property_value: alternative:term "Split hand foot malformation" xsd:string [Term] id: Orphanet:2442 name: X-linked lymphoproliferative disease xref: ICD10:D82.3 xref: MEDDRA:10068348 xref: MESH:D008232 xref: OMIM:300635 xref: OMIM:308240 xref: SNOMED CT:77121009 xref: UMLS:C0549463 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:158038 ! Primary hemophagocytic lymphohistiocytosis relationship: part_of Orphanet:238510 ! Lymphoproliferative syndrome property_value: alternative:term "Duncan disease" xsd:string property_value: alternative:term "Purtilo syndrome" xsd:string property_value: alternative:term "XLP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV)." xsd:string [Term] id: Orphanet:244206 name: methyl-CpG binding domain protein 5 xref: ENSEMBL:ENSG00000204406 xref: GENATLAS:MBD5 xref: HGNC:20444 xref: OMIM:611472 xref: UNIPROTKB/SWISSPROT:Q9P267 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178469 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic intellectual deficit relationship: Orphanet:317349 Orphanet:228402 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 2q23.1 microdeletion syndrome property_value: alternative:term "FLJ11113" xsd:string property_value: alternative:term "KIAA1461" xsd:string property_value: symbol "MBD5" xsd:string [Term] id: Orphanet:244279 name: dimethylglycine dehydrogenase xref: ENSEMBL:ENSG00000132837 xref: GENATLAS:DMGDH xref: HGNC:24475 xref: OMIM:605849 xref: UNIPROTKB/SWISSPROT:Q9UI17 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:243343 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dimethylglycine dehydrogenase deficiency property_value: symbol "DMGDH" xsd:string [Term] id: Orphanet:244283 name: Biliary atresia with splenic malformation syndrome is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101941 ! Rare biliary tract disease relationship: part_of Orphanet:108973 ! Syndromic visceral malformation property_value: alternative:term "BASM syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia (see this term) and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen." xsd:string [Term] id: Orphanet:2443 name: Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is_a: Orphanet:223713 ! Mitochondrial oxidative phosphorylation disorder property_value: alternative:term "Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies" xsd:string property_value: alternative:term "OXPHOS disease due to nDNA anomalies" xsd:string property_value: alternative:term "OXPHOS disease due to nuclear DNA anomalies" xsd:string [Term] id: Orphanet:244305 name: Dominant hypophosphatemia with nephrolithiasis or osteoporosis xref: OMIM:612286 xref: OMIM:612287 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183592 ! Genetic renal tubular disease relationship: part_of Orphanet:93447 ! Primary bone dysplasia with defective bone mineralization relationship: part_of Orphanet:93603 ! Rare renal tubular disease [Term] id: Orphanet:244310 name: RFT1-CDG xref: ICD10:E77.8 xref: OMIM:612015 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature relationship: part_of Orphanet:371157 ! Congenital disorder of glycosylation with hepatic involvement relationship: part_of Orphanet:371212 ! Congenital disorder of glycosylation with deafness as a major feature property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type In" xsd:string property_value: alternative:term "CDG syndrome type In" xsd:string property_value: alternative:term "CDG-In" xsd:string property_value: alternative:term "CDG1N" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type 1n" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type In" xsd:string property_value: alternative:term "Déficit en Man5GlcNAc2-PP-Dol flippase" xsd:string property_value: alternative:term "Man5GlcNAc2-PP-Dol flippase deficiency" xsd:string [Term] id: Orphanet:244322 name: solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 xref: ENSEMBL:ENSG00000109062 xref: GENATLAS:SLC9A3R1 xref: HGNC:11075 xref: OMIM:604990 xref: UNIPROTKB/SWISSPROT:O14745 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244305 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dominant hypophosphatemia with nephrolithiasis or osteoporosis property_value: alternative:term "EBP50" xsd:string property_value: alternative:term "NHERF" xsd:string property_value: alternative:term "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1" xsd:string property_value: alternative:term "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1" xsd:string property_value: alternative:term "Solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1" xsd:string property_value: symbol "SLC9A3R1" xsd:string [Term] id: Orphanet:244364 name: serologically defined colon cancer antigen 8 xref: ENSEMBL:ENSG00000054282 xref: GENATLAS:SDCCAG8 xref: HGNC:10671 xref: OMIM:613524 xref: REACTOME:Q86SQ7 xref: UNIPROTKB/SWISSPROT:Q86SQ7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bardet-Biedl syndrome relationship: Orphanet:317343 Orphanet:3156 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Senior-Loken syndrome property_value: alternative:term "BBS16" xsd:string property_value: alternative:term "CCCAP" xsd:string property_value: alternative:term "NPHP10" xsd:string property_value: alternative:term "NY-CO-8" xsd:string property_value: alternative:term "SLSN7" xsd:string property_value: symbol "SDCCAG8" xsd:string [Term] id: Orphanet:244368 name: zinc finger protein 592 xref: ENSEMBL:ENSG00000166716 xref: GENATLAS:ZNF592 xref: HGNC:28986 xref: OMIM:613624 xref: UNIPROTKB/SWISSPROT:Q92610 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:83472 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CAMOS syndrome property_value: alternative:term "CAMOS" xsd:string property_value: alternative:term "KIAA0211" xsd:string property_value: alternative:term "SCAR5" xsd:string property_value: alternative:term "spinocerebellar ataxia, autosomal recessive 5" xsd:string property_value: symbol "ZNF592" xsd:string [Term] id: Orphanet:244371 name: nucleotide binding protein-like xref: ENSEMBL:ENSG00000151413 xref: GENATLAS:NUBPL xref: HGNC:20278 xref: OMIM:613621 xref: UNIPROTKB/SWISSPROT:Q8TB37 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency property_value: alternative:term "C14orf127" xsd:string property_value: alternative:term "chromosome 14 open reading frame 127" xsd:string property_value: alternative:term "FLJ12660" xsd:string property_value: alternative:term "huInd1" xsd:string property_value: alternative:term "IND1" xsd:string property_value: alternative:term "iron-sulfur protein required for NADH dehydrogenase" xsd:string property_value: symbol "NUBPL" xsd:string [Term] id: Orphanet:244375 name: FAD-dependent oxidoreductase domain containing 1 xref: ENSEMBL:ENSG00000110074 xref: GENATLAS:FOXRED1 xref: HGNC:26927 xref: OMIM:613622 xref: UNIPROTKB/SWISSPROT:Q96CU9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency property_value: alternative:term "H17" xsd:string property_value: symbol "FOXRED1" xsd:string [Term] id: Orphanet:244378 name: solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 xref: ENSEMBL:ENSG00000074621 xref: GENATLAS:SLC24A1 xref: HGNC:10975 xref: OMIM:603617 xref: REACTOME:O60721 xref: UNIPROTKB/SWISSPROT:O60721 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:215 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital stationary night blindness property_value: alternative:term "HsT17412" xsd:string property_value: alternative:term "KIAA0702" xsd:string property_value: alternative:term "NCKX" xsd:string property_value: alternative:term "NCKX1" xsd:string property_value: alternative:term "RODX" xsd:string property_value: symbol "SLC24A1" xsd:string [Term] id: Orphanet:244385 name: cadherin-related family member 1 xref: ENSEMBL:ENSG00000148600 xref: GENATLAS:CDHR1 xref: HGNC:14550 xref: OMIM:609502 xref: UNIPROTKB/SWISSPROT:Q96JP9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone rod dystrophy relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "CORD15" xsd:string property_value: alternative:term "KIAA1775" xsd:string property_value: alternative:term "PCDH21" xsd:string property_value: alternative:term "protocadherin 21" xsd:string property_value: symbol "CDHR1" xsd:string [Term] id: Orphanet:244390 name: scavenger receptor class F, member 2 xref: ENSEMBL:ENSG00000244486 xref: GENATLAS:SCARF2 xref: HGNC:19869 xref: OMIM:613619 xref: UNIPROTKB/SWISSPROT:Q96GP6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2460 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Van den Ende-Gupta syndrome property_value: alternative:term "HUMZD58C02" xsd:string property_value: alternative:term "SREC-II" xsd:string property_value: alternative:term "SREC2" xsd:string property_value: symbol "SCARF2" xsd:string [Term] id: Orphanet:244395 name: BMP binding endothelial regulator xref: ENSEMBL:ENSG00000164619 xref: GENATLAS:BMPER xref: HGNC:24154 xref: OMIM:608699 xref: UNIPROTKB/SWISSPROT:Q8N8U9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:66637 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Diaphanospondylodysostosis property_value: alternative:term "CRIM3" xsd:string property_value: alternative:term "crossveinless-2" xsd:string property_value: alternative:term "Cv2" xsd:string property_value: symbol "BMPER" xsd:string [Term] id: Orphanet:2444 name: Congenital pulmonary airway malformation xref: ICD10:Q33.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:108993 ! Nonsyndromic respiratory or mediastinal malformation relationship: part_of Orphanet:182111 ! Respiratory malformation property_value: alternative:term "CCAM" xsd:string property_value: alternative:term "Congenital cystic adenomatous malformation of the lung" xsd:string property_value: alternative:term "Congenital cystic disease of the lung" xsd:string property_value: alternative:term "CPAM" xsd:string [Term] id: Orphanet:244400 name: serine palmitoyltransferase, long chain base subunit 2 xref: ENSEMBL:ENSG00000100596 xref: GENATLAS:SPTLC2 xref: HGNC:11278 xref: OMIM:605713 xref: REACTOME:O15270 xref: UNIPROTKB/SWISSPROT:O15270 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:36386 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary sensory and autonomic neuropathy type 1 property_value: alternative:term "hLCB2a" xsd:string property_value: alternative:term "KIAA0526" xsd:string property_value: alternative:term "LCB2" xsd:string property_value: alternative:term "LCB2A" xsd:string property_value: symbol "SPTLC2" xsd:string [Term] id: Orphanet:244406 name: WD repeat domain 11 xref: ENSEMBL:ENSG00000120008 xref: GENATLAS:WDR11 xref: HGNC:13831 xref: OMIM:606417 xref: UNIPROTKB/SWISSPROT:Q9BZH6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:432 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Normosmic congenital hypogonadotropic hypogonadism relationship: Orphanet:317343 Orphanet:478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kallmann syndrome property_value: alternative:term "bromodomain and WD repeat domain containing 2" xsd:string property_value: alternative:term "BRWD2" xsd:string property_value: alternative:term "DR11" xsd:string property_value: alternative:term "FLJ10506" xsd:string property_value: alternative:term "HH14" xsd:string property_value: alternative:term "KIAA1351" xsd:string property_value: alternative:term "WDR15" xsd:string property_value: symbol "WDR11" xsd:string [Term] id: Orphanet:2445 name: Conotruncal heart malformations xref: OMIM:217095 xref: UMLS:C1857586 is_a: Orphanet:98717 ! Transposition of the great arteries and conotruncal cardiac anomaly [Term] id: Orphanet:244547 name: RFT1 homolog (S. cerevisiae) xref: ENSEMBL:ENSG00000163933 xref: GENATLAS:RFT1 xref: HGNC:30220 xref: OMIM:611908 xref: REACTOME:Q96AA3 xref: UNIPROTKB/SWISSPROT:Q96AA3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244310 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! RFT1-CDG property_value: alternative:term "RFT1, requiring fifty three 1 homolog (S. cerevisiae)" xsd:string property_value: symbol "RFT1" xsd:string [Term] id: Orphanet:244686 name: apoptosis-inducing factor, mitochondrion-associated, 1 xref: ENSEMBL:ENSG00000156709 xref: GENATLAS:AIFM1 xref: HGNC:8768 xref: OMIM:300169 xref: UNIPROTKB/SWISSPROT:O95831 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101078 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked Charcot-Marie-Tooth disease type 4 relationship: Orphanet:317343 Orphanet:238329 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe X-linked mitochondrial encephalomyopathy property_value: alternative:term "AIF" xsd:string property_value: alternative:term "PDCD8" xsd:string property_value: alternative:term "programmed cell death 8 (apoptosis-inducing factor)" xsd:string property_value: symbol "AIFM1" xsd:string [Term] id: Orphanet:244693 name: solute carrier family 6 (neurotransmitter transporter), member 3 xref: ENSEMBL:ENSG00000142319 xref: GENATLAS:SLC6A3 xref: HGNC:11049 xref: OMIM:126455 xref: REACTOME:Q01959 xref: UNIPROTKB/SWISSPROT:Q01959 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:238455 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile dystonia-parkinsonism property_value: alternative:term "DAT" xsd:string property_value: alternative:term "DAT1" xsd:string property_value: alternative:term "dopamine transporter" xsd:string property_value: alternative:term "dopamine transporter 1" xsd:string property_value: alternative:term "Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3" xsd:string property_value: symbol "SLC6A3" xsd:string [Term] id: Orphanet:2447 name: Congenital mitral malformation xref: ICD10:Q23.2 xref: ICD10:Q23.3 xref: ICD10:Q23.8 is_a: Orphanet:98720 ! Atrioventricular valve anomaly [Term] id: Orphanet:244706 name: bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) xref: ENSEMBL:ENSG00000136881 xref: GENATLAS:BAAT xref: HGNC:932 xref: OMIM:602938 xref: REACTOME:Q14032 xref: UNIPROTKB/SWISSPROT:Q14032 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:238475 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hypercholanemia property_value: alternative:term "BAT" xsd:string property_value: alternative:term "bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase)" xsd:string property_value: symbol "BAAT" xsd:string [Term] id: Orphanet:244711 name: IL2-inducible T-cell kinase xref: ENSEMBL:ENSG00000113263 xref: GENATLAS:ITK xref: HGNC:6171 xref: IUPHAR:2046 xref: OMIM:186973 xref: REACTOME:Q08881 xref: UNIPROTKB/SWISSPROT:Q08881 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:238505 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive lymphoproliferative disease property_value: alternative:term "EMT" xsd:string property_value: alternative:term "LYK" xsd:string property_value: alternative:term "PSCTK2" xsd:string property_value: symbol "ITK" xsd:string [Term] id: Orphanet:244716 name: calmodulin-lysine N-methyltransferase xref: ENSEMBL:ENSG00000143919 xref: GENATLAS:C2orf34 xref: HGNC:26276 xref: OMIM:609559 xref: UNIPROTKB/SWISSPROT:Q7Z624 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:238523 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atypical hypotonia - cystinuria syndrome relationship: Orphanet:317349 Orphanet:163693 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 2p21 microdeletion syndrome relationship: Orphanet:317349 Orphanet:369881 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 2p21 microdeletion syndrome without cystinuria property_value: alternative:term "C2ORF34" xsd:string property_value: alternative:term "CaM KMT" xsd:string property_value: alternative:term "chromosome 2 open reading frame 34" xsd:string property_value: alternative:term "CLNMT" xsd:string property_value: symbol "CAMKMT" xsd:string [Term] id: Orphanet:244720 name: protein phosphatase, Mg2+/Mn2+ dependent, 1B xref: ENSEMBL:ENSG00000138032 xref: GENATLAS:PPM1B xref: HGNC:9276 xref: OMIM:603770 xref: REACTOME:O75688 xref: UNIPROTKB/SWISSPROT:O75688 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:163693 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 2p21 microdeletion syndrome property_value: alternative:term "PP2CB" xsd:string property_value: alternative:term "PP2CBETA" xsd:string property_value: alternative:term "PPC2BETAX" xsd:string property_value: alternative:term "protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform" xsd:string property_value: alternative:term "protein phosphatase 2C, beta isoform" xsd:string property_value: symbol "PPM1B" xsd:string [Term] id: Orphanet:244737 name: interleukin 10 receptor, alpha xref: ENSEMBL:ENSG00000110324 xref: GENATLAS:IL10RA xref: HGNC:5964 xref: OMIM:146933 xref: UNIPROTKB/SWISSPROT:Q13651 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:238569 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive early-onset inflammatory bowel disease property_value: alternative:term "CD210" xsd:string property_value: alternative:term "CD210a" xsd:string property_value: alternative:term "CDW210A" xsd:string property_value: alternative:term "HIL-10R" xsd:string property_value: alternative:term "IL10R" xsd:string property_value: symbol "IL10RA" xsd:string [Term] id: Orphanet:244742 name: interleukin 10 receptor, beta xref: ENSEMBL:ENSG00000243646 xref: GENATLAS:IL10RB xref: HGNC:5965 xref: OMIM:123889 xref: UNIPROTKB/SWISSPROT:Q08334 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:238569 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive early-onset inflammatory bowel disease property_value: alternative:term "CDW210B" xsd:string property_value: alternative:term "CRF2-4" xsd:string property_value: alternative:term "CRFB4" xsd:string property_value: alternative:term "D21S58" xsd:string property_value: alternative:term "D21S66" xsd:string property_value: alternative:term "IL-10R2" xsd:string property_value: symbol "IL10RB" xsd:string [Term] id: Orphanet:244810 name: deleted in colorectal carcinoma xref: ENSEMBL:ENSG00000187323 xref: GENATLAS:DCC xref: HGNC:2701 xref: OMIM:120470 xref: REACTOME:P43146 xref: UNIPROTKB/SWISSPROT:P43146 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:238722 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial congenital mirror movements property_value: alternative:term "IGDCC1" xsd:string property_value: alternative:term "immunoglobulin superfamily, DCC subclass, member 1" xsd:string property_value: symbol "DCC" xsd:string [Term] id: Orphanet:245 name: Nager syndrome xref: ICD10:Q75.4 xref: MESH:C538184 xref: OMIM:154400 xref: SNOMED CT:35520007 xref: UMLS:C0265245 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:138050 ! Pierre Robin syndrome associated with branchial archs anomalies relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:364574 ! Acrofacial dysostosis relationship: part_of Orphanet:98566 ! Syndromic palpebral coloboma relationship: part_of Orphanet:98576 ! Malposition of external canthus property_value: alternative:term "Mandibulofacial dysostosis with preaxial limb anomalies" xsd:string property_value: alternative:term "NAFD" xsd:string property_value: alternative:term "Nager acrofacial dysostosis" xsd:string property_value: alternative:term "Preaxial acrodysostosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects." xsd:string [Term] id: Orphanet:2451 name: Mucocutaneous venous malformations xref: ICD10:Q27.8 xref: OMIM:600195 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:211240 ! Genetic vascular anomaly relationship: part_of Orphanet:211252 ! Venous malformation property_value: alternative:term "Cutaneous and mucosal venous malformation" xsd:string property_value: alternative:term "VMCM" xsd:string [Term] id: Orphanet:2452 name: Vascular malposition is_a: Orphanet:98717 ! Transposition of the great arteries and conotruncal cardiac anomaly relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:2453 name: Malpuech syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_293843 with label: Craniofacial-ulnar-renal syndrome" xsd:string [Term] id: Orphanet:2454 name: Familial intestinal malrotation - facial anomalies xref: ICD10:Q43.3 xref: OMIM:193250 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:108969 ! Syndromic intestinal malformation property_value: alternative:term "Stalker-Chitayat syndrome" xsd:string [Term] id: Orphanet:2456 name: Familial supernumerary nipples xref: ICD10:Q83.3 xref: OMIM:163700 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:180170 ! Excess breast volume or number property_value: alternative:term "Isolated polythelia" xsd:string [Term] id: Orphanet:2457 name: Mandibuloacral dysplasia xref: ICD10:Q87.5 xref: OMIM:248370 xref: OMIM:608612 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139033 ! Progeroid syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:363245 ! Genetic progeroid syndrome relationship: part_of Orphanet:93449 ! Primary osteolysis relationship: part_of Orphanet:98305 ! Genetic lipodystrophy relationship: part_of Orphanet:98306 ! Familial partial lipodystrophy property_value: alternative:term "MAD" xsd:string [Term] id: Orphanet:2459 name: Mansonellosis xref: ICD10:B74.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2034 ! Filariasis [Term] id: Orphanet:246 name: Postaxial acrofacial dysostosis xref: ICD10:Q75.4 xref: OMIM:263750 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:364574 ! Acrofacial dysostosis relationship: part_of Orphanet:98566 ! Syndromic palpebral coloboma relationship: part_of Orphanet:98571 ! Secondary ectropion property_value: alternative:term "Acrofacial dysostosis, Genee-Wiedmann type" xsd:string property_value: alternative:term "Mandibulfacial dysostosis with postaxial limb anomalies" xsd:string property_value: alternative:term "Miller syndrome" xsd:string property_value: alternative:term "POADS" xsd:string property_value: alternative:term "Postaxial acrodysostosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia." xsd:string [Term] id: Orphanet:2460 name: Van den Ende-Gupta syndrome xref: ICD10:Q87.0 xref: OMIM:600920 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:1037 ! Arthrogryposis multiplex congenita relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Marden-Walker-like syndrome" xsd:string property_value: alternative:term "VDEGS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features." xsd:string [Term] id: Orphanet:2461 name: Marden-Walker syndrome xref: ICD10:Q87.0 xref: MESH:C535910 xref: OMIM:248700 xref: UMLS:C0796033 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:1037 ! Arthrogryposis multiplex congenita relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly." xsd:string [Term] id: Orphanet:2462 name: Shprintzen-Goldberg syndrome xref: ICD10:Q87.8 xref: MESH:C537328 xref: OMIM:182212 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:284993 ! Marfan and Marfan-related disorder property_value: alternative:term "Marfanoid craniosynostosis syndrome" xsd:string property_value: alternative:term "SGS" xsd:string [Term] id: Orphanet:2463 name: Marfanoid habitus - intellectual deficit, autosomal recessive xref: ICD10:Q87.8 xref: OMIM:248770 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Marfanoid habitus – intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit." xsd:string [Term] id: Orphanet:2464 name: Marfanoid syndrome, De Silva type xref: OMIM:223330 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:108969 ! Syndromic intestinal malformation [Term] id: Orphanet:246552 name: coiled-coil domain containing 39 xref: ENSEMBL:ENSG00000145075 xref: GENATLAS:CCDC39 xref: HGNC:25244 xref: OMIM:613798 xref: UNIPROTKB/SWISSPROT:Q9UFE4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "CILD14" xsd:string property_value: alternative:term "DKFZp434A128" xsd:string property_value: alternative:term "FAP59" xsd:string property_value: symbol "CCDC39" xsd:string [Term] id: Orphanet:246554 name: coiled-coil domain containing 40 xref: ENSEMBL:ENSG00000141519 xref: GENATLAS:CCDC40 xref: HGNC:26090 xref: OMIM:613799 xref: UNIPROTKB/SWISSPROT:Q4G0X9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "CILD15" xsd:string property_value: alternative:term "FAP172" xsd:string property_value: alternative:term "FLJ20753" xsd:string property_value: alternative:term "FLJ32021" xsd:string property_value: alternative:term "KIAA1640" xsd:string property_value: symbol "CCDC40" xsd:string [Term] id: Orphanet:2466 name: MASA syndrome xref: ICD10:G11.4 xref: MESH:C536029 xref: OMIM:303350 xref: UMLS:C0795953 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:275543 ! L1 syndrome relationship: part_of Orphanet:98888 ! X-linked complex spastic paraplegia property_value: alternative:term "Intellectual defici-aphasia-shuffling gait-adducted thumbs syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by adducted thumbs, hypotonia progressing to spasticity or spastic paraplegia, delayed development of speech, mild to moderate intellectual deficit, and mild to moderate distension of the cerebral ventricles." xsd:string [Term] id: Orphanet:246647 name: feline leukemia virus subgroup C cellular receptor 1 xref: ENSEMBL:ENSG00000162769 xref: GENATLAS:FLVCR1 xref: HGNC:24682 xref: OMIM:609144 xref: REACTOME:Q9Y5Y0 xref: UNIPROTKB/SWISSPROT:Q9Y5Y0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88628 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Posterior column ataxia - retinitis pigmentosa property_value: alternative:term "ataxia, posterior column 1, with retinitis pigmentosa" xsd:string property_value: alternative:term "AXPC1" xsd:string property_value: alternative:term "FLVCR" xsd:string property_value: alternative:term "MFSD7B" xsd:string property_value: alternative:term "PCA" xsd:string property_value: symbol "FLVCR1" xsd:string [Term] id: Orphanet:246653 name: myosin light chain kinase xref: ENSEMBL:ENSG00000065534 xref: GENATLAS:MYLK xref: HGNC:7590 xref: IUPHAR:1552 xref: OMIM:600922 xref: REACTOME:Q15746 xref: UNIPROTKB/SWISSPROT:Q15746 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:91387 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial thoracic aortic aneurysm and aortic dissection property_value: alternative:term "MLCK" xsd:string property_value: alternative:term "MLCK1" xsd:string property_value: alternative:term "MYLK1" xsd:string property_value: alternative:term "myosin, light polypeptide kinase" xsd:string property_value: alternative:term "smMLCK" xsd:string property_value: alternative:term "smooth muscle myosin light chain kinase" xsd:string property_value: symbol "MYLK" xsd:string [Term] id: Orphanet:246681 name: neurotrophic tyrosine kinase, receptor, type 3 xref: ENSEMBL:ENSG00000140538 xref: GENATLAS:NTRK3 xref: HGNC:8033 xref: IUPHAR:1819 xref: OMIM:191316 xref: UNIPROTKB/SWISSPROT:Q16288 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:2030 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fibrosarcoma property_value: alternative:term "TRKC" xsd:string property_value: symbol "NTRK3" xsd:string [Term] id: Orphanet:246689 name: cAMP responsive element binding protein 1 xref: ENSEMBL:ENSG00000118260 xref: GENATLAS:CREB1 xref: HGNC:2345 xref: OMIM:123810 xref: REACTOME:P16220 xref: UNIPROTKB/SWISSPROT:P16220 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:97338 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Melanoma of soft part property_value: symbol "CREB1" xsd:string [Term] id: Orphanet:2467 name: Systemic mastocytosis xref: ICD10:C96.2 xref: MEDDRA:10042949 xref: MESH:D034721 xref: SNOMED CT:397016004 xref: UMLS:C0221013 is_a: Orphanet:98292 ! Mastocytosis relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "Mast cell disease" xsd:string [Term] id: Orphanet:247 name: Arrhythmogenic right ventricular dysplasia xref: ICD10:I42.8 xref: MEDDRA:10058093 xref: MESH:D019571 xref: SNOMED CT:253528005 xref: SNOMED CT:281170005 xref: UMLS:C0349788 is_a: Orphanet:167848 ! Cardiomyopathy is_a: Orphanet:98054 ! Rare genetic cardiac disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 property_value: alternative:term "Arrhythmogenic right ventricular cardiomyopathy" xsd:string property_value: alternative:term "ARVC" xsd:string property_value: alternative:term "ARVD" xsd:string [Term] id: Orphanet:2470 name: Matthew-Wood syndrome xref: ICD10:Q11.2 xref: OMIM:601186 xref: OMIM:615524 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108979 ! Syndromic diaphragmatic or abdominal wall malformation relationship: part_of Orphanet:108993 ! Nonsyndromic respiratory or mediastinal malformation relationship: part_of Orphanet:108995 ! Syndromic respiratory or mediastinal malformation relationship: part_of Orphanet:180779 ! Syndromic diaphragmatic or thoracic malformation relationship: part_of Orphanet:182108 ! Thoracic malformation relationship: part_of Orphanet:182111 ! Respiratory malformation relationship: part_of Orphanet:183622 ! Genetic respiratory malformation relationship: part_of Orphanet:202948 ! Syndromic microphthalmia relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Anophthalmia - pulmonary hypoplasia" xsd:string property_value: alternative:term "MCOPS9" xsd:string property_value: alternative:term "Syndromic microphthalmia type 9" xsd:string [Term] id: Orphanet:2471 name: McDonough syndrome xref: ICD10:Q87.8 xref: MESH:C538158 xref: OMIM:248950 xref: UMLS:C0796038 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:247145 name: isocitrate dehydrogenase 2 (NADP+), mitochondrial xref: ENSEMBL:ENSG00000182054 xref: GENATLAS:IDH2 xref: HGNC:5383 xref: OMIM:147650 xref: REACTOME:P48735 xref: UNIPROTKB/SWISSPROT:P48735 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79315 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! D-2-hydroxyglutaric aciduria relationship: Orphanet:317344 Orphanet:163634 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maffucci syndrome relationship: Orphanet:317344 Orphanet:296 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Enchondromatosis property_value: symbol "IDH2" xsd:string [Term] id: Orphanet:247155 name: WD repeat containing planar cell polarity effector xref: ENSEMBL:ENSG00000143951 xref: GENATLAS:WDPCP xref: HGNC:28027 xref: OMIM:613580 xref: UNIPROTKB/SWISSPROT:O95876 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bardet-Biedl syndrome relationship: Orphanet:317346 Orphanet:564 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Meckel syndrome property_value: alternative:term "BBS15" xsd:string property_value: alternative:term "C2ORF86" xsd:string property_value: alternative:term "chromosome 2 open reading frame 86" xsd:string property_value: alternative:term "fritz" xsd:string property_value: alternative:term "hFrtz" xsd:string property_value: symbol "WDPCP" xsd:string [Term] id: Orphanet:247165 name: Infantile mercury poisoning xref: ICD10:T56.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108999 ! Rare intoxication property_value: alternative:term "Erythroedema polyneuritis" xsd:string property_value: alternative:term "Feer disease" xsd:string property_value: alternative:term "Infantile acrodynia" xsd:string property_value: alternative:term "Infantile mercury intoxication" xsd:string property_value: alternative:term "Pink disease" xsd:string property_value: alternative:term "Swift disease" xsd:string property_value: alternative:term "Swift-Feer disease" xsd:string [Term] id: Orphanet:247198 name: Progressive cerebello-cerebral atrophy is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature relationship: part_of Orphanet:269564 ! Genetic syndrome with a central nervous system malformation as major feature property_value: alternative:term "PCCA" xsd:string [Term] id: Orphanet:247203 name: Collecting duct carcinoma xref: ICD10:C64 xref: MESH:D002292 xref: SNOMED CT:128669006 xref: UMLS:C1266044 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:217071 ! Non-familial renal cell carcinoma property_value: alternative:term "BDC" xsd:string property_value: alternative:term "Bellini carcinoma" xsd:string property_value: alternative:term "Bellini duct carcinoma" xsd:string property_value: alternative:term "CDC" xsd:string [Term] id: Orphanet:247234 name: Sporadic adult-onset ataxia of unknown etiology is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:247239 ! Non-hereditary degenerative ataxia property_value: alternative:term "SAOA" xsd:string [Term] id: Orphanet:247239 name: Non-hereditary degenerative ataxia is_a: Orphanet:102002 ! Rare ataxia [Term] id: Orphanet:247242 name: Acquired ataxia is_a: Orphanet:102002 ! Rare ataxia [Term] id: Orphanet:247245 name: Superficial siderosis xref: ICD10:I69.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:247242 ! Acquired ataxia [Term] id: Orphanet:247257 name: Inhalational anthrax xref: ICD10:A22.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease property_value: alternative:term "Pulmonary anthrax" xsd:string property_value: alternative:term "Respiratory anthrax" xsd:string [Term] id: Orphanet:247262 name: Hyperphosphatasia-intellectual deficiency syndrome xref: OMIM:239300 xref: OMIM:614207 xref: OMIM:614749 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:309515 ! Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation relationship: part_of Orphanet:371195 ! Congenital disorder of glycosylation-related bone disorder relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: alternative:term "HPMR" xsd:string property_value: alternative:term "Mabry syndrome" xsd:string [Term] id: Orphanet:2473 name: McKusick-Kaufman syndrome xref: ICD10:Q87.8 xref: MEDDRA:10052312 xref: MESH:C538159 xref: OMIM:236700 xref: UMLS:C0948368 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Hydrometrocolpos - postaxial polydactyly" xsd:string property_value: alternative:term "Kaufman-Mckusick syndrome" xsd:string [Term] id: Orphanet:247353 name: Generalized pustular psoriasis xref: ICD10:L40.1 xref: OMIM:614204 xref: SNOMED CT:238612002 xref: UMLS:C0343055 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:290842 ! Autoinflammatory syndrome with skin involvement relationship: part_of Orphanet:324927 ! Pyogenic autoinflammatory syndrome relationship: part_of Orphanet:79359 ! Other epidermis disorder relationship: part_of Orphanet:79360 ! Other genetic epidermal disease property_value: alternative:term "Deficiency of the IL-36R antagonist" xsd:string property_value: alternative:term "Deficiency of the IL-36Ra" xsd:string property_value: alternative:term "DITRA" xsd:string property_value: alternative:term "GPP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Generalized pustular psoriasis (GPP) is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis." xsd:string [Term] id: Orphanet:247378 name: Autosomal recessive secondary polycythemia not associated with VHL gene xref: ICD10:D75.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:238536 ! Congenital secondary polycythemia property_value: alternative:term "Autosomal recessive secondary erythrocytosis not associated with VHL gene" xsd:string property_value: alternative:term "Autosomal recessive secondary erythrocytosis, non Chuvash type" xsd:string property_value: alternative:term "Autosomal recessive secondary polycythemia, non Chuvash type" xsd:string [Term] id: Orphanet:2475 name: White forelock with malformations xref: ICD10:Q87.8 xref: MESH:C536700 xref: OMIM:277740 xref: UMLS:C1848463 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit [Term] id: Orphanet:247511 name: Autosomal dominant secondary polycythemia xref: ICD10:D75.1 xref: OMIM:609820 xref: OMIM:611783 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:238536 ! Congenital secondary polycythemia property_value: alternative:term "Autosomal dominant secondary erythrocytosis" xsd:string [Term] id: Orphanet:247522 name: Primary ciliary dyskinesia - retinitis pigmentosa xref: OMIM:300455 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101944 ! Rare pulmonary disease relationship: part_of Orphanet:156610 ! Rare genetic respiratory disease relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss" xsd:string [Term] id: Orphanet:247525 name: Citrullinemia type I xref: ICD10:E72.2 xref: OMIM:215700 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:187 ! Citrullinemia property_value: alternative:term "Argininosuccinate synthase deficiency" xsd:string property_value: alternative:term "Argininosuccinate synthetase deficiency" xsd:string property_value: alternative:term "Argininosuccinic acid synthase deficiency" xsd:string property_value: alternative:term "Argininosuccinic acid synthetase deficiency" xsd:string property_value: alternative:term "ASS deficiency" xsd:string property_value: alternative:term "Citrullinemia type 1" xsd:string property_value: alternative:term "Classic citrullinemia" xsd:string property_value: alternative:term "CTLN1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, see this term)." xsd:string [Term] id: Orphanet:247546 name: Acute neonatal citrullinemia type I xref: ICD10:E72.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:247525 ! Citrullinemia type I property_value: alternative:term "Acute neonatal citrullinemia type 1" xsd:string property_value: alternative:term "Classic citrullinemia type 1" xsd:string property_value: alternative:term "Classic citrullinemia type I" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acute neonatal citrullinemia type 1 is a severe form of citrullinemia type 1 (see this term) characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits." xsd:string [Term] id: Orphanet:247573 name: Adult-onset citrullinemia type I xref: ICD10:E72.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:247525 ! Citrullinemia type I property_value: alternative:term "Adult-onset citrullinemia type 1" xsd:string property_value: alternative:term "Late-onset citrullinemia type 1" xsd:string property_value: alternative:term "Late-onset citrullinemia type I" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Adult-onset citrullinemia type 1 is a form of citrullinemia type 1 (see this term) characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy, and drowsiness. Serious increased intracranial pressure may occur." xsd:string [Term] id: Orphanet:247582 name: Citrin deficiency xref: ICD10:E72.2 xref: SNOMED CT:429735007 xref: UMLS:C1997910 is_a: Orphanet:187 ! Citrullinemia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, see this term), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, see this term)." xsd:string [Term] id: Orphanet:247585 name: Citrullinemia type II xref: ICD10:E72.2 xref: OMIM:603471 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:247582 ! Citrin deficiency property_value: alternative:term "Adult-onset citrin deficiency" xsd:string property_value: alternative:term "Adult-onset citrullinemia type 2" xsd:string property_value: alternative:term "Citrullinemia type 2" xsd:string property_value: alternative:term "CTLN2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Citrullinemia type 2 is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma." xsd:string [Term] id: Orphanet:247598 name: Neonatal intrahepatic cholestasis due to citrin deficiency xref: ICD10:E72.2 xref: OMIM:605814 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:247582 ! Citrin deficiency property_value: alternative:term "Neonatal intrahepatic cholestasis caused by citrin deficiency" xsd:string property_value: alternative:term "NICCD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, growth retardation, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia." xsd:string [Term] id: Orphanet:2476 name: Medeira-Dennis-Donnai syndrome is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome property_value: alternative:term "Dysraphism - cleft lip/palate - limb reduction defects" xsd:string [Term] id: Orphanet:247604 name: Juvenile primary lateral sclerosis xref: ICD10:G12.2 xref: MESH:C536416 xref: OMIM:606353 xref: UMLS:C1853396 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98505 ! Genetic motor neuron disease property_value: alternative:term "Juvenile PLS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of ability to walk with wheelchair dependence, and subsequently, loss of motor speech production." xsd:string [Term] id: Orphanet:247623 name: Perinatal lethal hypophosphatasia xref: ICD10:E83.3 xref: OMIM:241500 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:436 ! Hypophosphatasia property_value: alternative:term "Perinatal lethal phosphoethanolaminuria" xsd:string property_value: alternative:term "Perinatal lethal Rathburn disease" xsd:string [Term] id: Orphanet:247638 name: Prenatal benign hypophosphatasia xref: ICD10:E83.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:436 ! Hypophosphatasia property_value: alternative:term "Prenatal benign phosphoethanolaminuria" xsd:string property_value: alternative:term "Prenatal benign Rathburn disease" xsd:string [Term] id: Orphanet:247651 name: Infantile hypophosphatasia xref: ICD10:E83.3 xref: OMIM:241500 xref: SNOMED CT:55236002 xref: UMLS:C0268412 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:436 ! Hypophosphatasia relationship: part_of Orphanet:98027 ! Rare disease with odontological manifestation property_value: alternative:term "Infantile phosphoethanolaminuria" xsd:string property_value: alternative:term "Infantile Rathburn disease" xsd:string [Term] id: Orphanet:247667 name: Childhood-onset hypophosphatasia xref: ICD10:E83.3 xref: OMIM:241510 xref: SNOMED CT:30174008 xref: UMLS:C0220743 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:436 ! Hypophosphatasia relationship: part_of Orphanet:98027 ! Rare disease with odontological manifestation property_value: alternative:term "Childhood-onset phosphoethanolaminuria" xsd:string property_value: alternative:term "Childhood-onset Rathburn disease" xsd:string [Term] id: Orphanet:247676 name: Adult hypophosphatasia xref: ICD10:E83.3 xref: OMIM:146300 xref: SNOMED CT:20756002 xref: UMLS:C0268413 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:436 ! Hypophosphatasia relationship: part_of Orphanet:98027 ! Rare disease with odontological manifestation property_value: alternative:term "Adult phosphoethanolaminuria" xsd:string property_value: alternative:term "Adult Rathburn disease" xsd:string [Term] id: Orphanet:247685 name: Odontohypophosphatasia xref: ICD10:E83.3 xref: OMIM:146300 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:436 ! Hypophosphatasia relationship: part_of Orphanet:98027 ! Rare disease with odontological manifestation [Term] id: Orphanet:247691 name: Retinal vasculopathy and cerebral leukodystrophy xref: OMIM:192315 is_a: Orphanet:183503 ! Genetic central nervous system and retinal vascular disease is_a: Orphanet:71281 ! Rare central nervous system and retinal vascular disease is_a: Orphanet:71862 ! Retinal dystrophy property_value: alternative:term "RVCL" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cerebroretinalvasculopathy (CRV) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term), characterized by strokes, vision loss, migraines, pseudotumours, dementia and occasionally renal disease." xsd:string [Term] id: Orphanet:247698 name: Multiple endocrine neoplasia type 2A xref: ICD10:D44.8 xref: MESH:D018813 xref: OMIM:171400 xref: UMLS:C0025268 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:653 ! Multiple endocrine neoplasia type 2 relationship: part_of Orphanet:717 ! Catecholamine-producing tumor property_value: alternative:term "MEN2A" xsd:string property_value: alternative:term "PTC syndrome" xsd:string property_value: alternative:term "Sipple syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Multiple endocrine neoplasia 2A (MEN 2A) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC; see this term) in combination with pheochromocytoma (see this term) and primary mild hyperparathyroidism (resulting from hyperplasia or adenoma of the parathyroid cells)." xsd:string [Term] id: Orphanet:2477 name: Megalencephaly xref: ICD10:Q04.5 xref: OMIM:155350 xref: OMIM:248000 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:199633 ! Cerebral malformation property_value: alternative:term "Macrencephaly" xsd:string [Term] id: Orphanet:247709 name: Multiple endocrine neoplasia type 2B xref: ICD10:D44.8 xref: MEDDRA:10056420 xref: MESH:D018814 xref: OMIM:162300 xref: UMLS:C0025269 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:653 ! Multiple endocrine neoplasia type 2 relationship: part_of Orphanet:717 ! Catecholamine-producing tumor property_value: alternative:term "MEN2B" xsd:string property_value: alternative:term "Multiple endocrine neoplasia type 3" xsd:string property_value: alternative:term "Wagenmann-Froboese syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Multiple endocrine neoplasia 2B (MEN2B) syndrome is a form of MEN2 syndrome (see this term) characterized by medullary thyroid carcinoma (MTC, see this term), pheochromocytoma (see this term), mucosal ganglioneuromas and marfanoid habitus." xsd:string [Term] id: Orphanet:247718 name: Inflammatory myopathy with abundant macrophages is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: part_of Orphanet:98482 ! Idiopathic inflammatory myopathy property_value: alternative:term "IMAM" xsd:string [Term] id: Orphanet:247724 name: Idiopathic eosinophilic myositis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: part_of Orphanet:98482 ! Idiopathic inflammatory myopathy [Term] id: Orphanet:247762 name: Lipoblastoma xref: SNOMED CT:400102008 xref: UMLS:C1260965 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:71209 ! Rare soft tissue tumor [Term] id: Orphanet:247765 name: X-linked cerebellar ataxia xref: ICD10:G11 is_a: Orphanet:183518 ! Rare hereditary ataxia relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant [Term] id: Orphanet:247768 name: Atypical Mayer-Rokitansky-Küster-Hauser syndrome xref: ICD10:Q51.8 xref: OMIM:158330 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:3109 ! Mayer-Rokitansky-Küster-Hauser syndrome relationship: part_of Orphanet:325109 ! Syndrome with 46,XX disorder of sex development relationship: part_of Orphanet:325638 ! Syndrome with disorder of sex development of gynecological interest property_value: alternative:term "Atypical MRKH syndrome" xsd:string property_value: alternative:term "Atypical Rokitansky syndrome" xsd:string property_value: alternative:term "WNT4 deficiency" xsd:string [Term] id: Orphanet:247775 name: Classic Mayer-Rokitansky-Küster-Hauser syndrome xref: ICD10:Q51.8 xref: OMIM:277000 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:3109 ! Mayer-Rokitansky-Küster-Hauser syndrome property_value: alternative:term "Classic MRKH syndrome" xsd:string property_value: alternative:term "Classic Rokitansky syndrome" xsd:string property_value: alternative:term "Mayer-Rokitansky-Küster-Hauser syndrome type 1" xsd:string property_value: alternative:term "MRKH syndrome type 1" xsd:string property_value: alternative:term "Rokitansky sequence" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 is the classic type of MRKH syndrome (see this term) characterized by an isolated form of congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females." xsd:string [Term] id: Orphanet:247790 name: FTH1-related iron overload xref: ICD10:E83.1 xref: OMIM:615517 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:309842 ! Disorder of iron metabolism and transport property_value: alternative:term "FTH1-associated iron overload" xsd:string [Term] id: Orphanet:247794 name: Juvenile cataract - microcornea - renal glucosuria xref: OMIM:612018 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309001 ! Disorder of carbohydrate absorption and transport relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease relationship: part_of Orphanet:98641 ! Syndromic cataract property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects." xsd:string [Term] id: Orphanet:247798 name: MUTYH-related attenuated familial adenomatous polyposis xref: ICD10:D12.6 xref: OMIM:608456 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:220460 ! Attenuated familial adenomatous polyposis property_value: alternative:term "MUTYH-related AFAP" xsd:string property_value: alternative:term "MUTYH-related attenuated familial polyposis coli" xsd:string property_value: alternative:term "MUTYH-related attenuated FAP" xsd:string [Term] id: Orphanet:2478 name: Megalencephalic leukoencephalopathy with subcortical cysts xref: ICD10:E75.2 xref: OMIM:604004 xref: OMIM:613925 xref: OMIM:613926 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68356 ! Leukodystrophy property_value: alternative:term "Megalencephalic leukodystrophy" xsd:string property_value: alternative:term "Megalencephaly - cystic leukodystrophy" xsd:string property_value: alternative:term "MLC" xsd:string property_value: alternative:term "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts" xsd:string property_value: alternative:term "Van der Knaap syndrome" xsd:string [Term] id: Orphanet:247806 name: APC-related attenuated familial adenomatous polyposis xref: ICD10:D12.6 xref: OMIM:175100 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:220460 ! Attenuated familial adenomatous polyposis property_value: alternative:term "APC-related AFAP" xsd:string property_value: alternative:term "APC-related attenuated familial polyposis coli" xsd:string property_value: alternative:term "APC-related attenuated FAP" xsd:string [Term] id: Orphanet:247815 name: Autosomal recessive ataxia due to PEX10 deficiency xref: ICD10:G11.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98096 ! Autosomal recessive metabolic cerebellar ataxia property_value: alternative:term "Mild peroxismal disorder due to PEX10 deficiency" xsd:string [Term] id: Orphanet:247820 name: Ectodermal dysplasia - syndactyly syndrome xref: OMIM:613573 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "EDSS" xsd:string property_value: alternative:term "EDSS1" xsd:string [Term] id: Orphanet:247827 name: Ectodermal dysplasia - cutaneous syndactyly syndrome xref: OMIM:613576 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "EDCS" xsd:string property_value: alternative:term "EDSS2" xsd:string [Term] id: Orphanet:247834 name: Occult macular dystrophy xref: ICD10:H35.5 xref: OMIM:613587 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98664 ! Genetic macular dystrophy property_value: alternative:term "OCMD" xsd:string property_value: alternative:term "OMD" xsd:string [Term] id: Orphanet:247839 name: Oligoarticular juvenile arthritis with anti-nuclear antibodies xref: ICD10:M08.4 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:85410 ! Oligoarticular juvenile arthritis property_value: alternative:term "Pauciarticular chronic arthritis with anti-nuclear antibodies" xsd:string [Term] id: Orphanet:247846 name: Oligoarticular juvenile arthritis without anti-nuclear antibodies xref: ICD10:M08.4 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:85410 ! Oligoarticular juvenile arthritis property_value: alternative:term "Pauciarticular chronic arthritis without anti-nuclear antibodies" xsd:string [Term] id: Orphanet:247854 name: Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies xref: ICD10:M08.3 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:85408 ! Juvenile rheumatoid factor-negative polyarthritis property_value: alternative:term "Polyarthritis without rheumatoid factor with anti-nuclear antibodies" xsd:string [Term] id: Orphanet:247861 name: Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies xref: ICD10:M08.3 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:85408 ! Juvenile rheumatoid factor-negative polyarthritis property_value: alternative:term "Polyarthritis without rheumatoid factor without anti-nuclear antibodies" xsd:string [Term] id: Orphanet:247868 name: NLRP12-associated hereditary periodic fever syndrome xref: OMIM:611762 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:290842 ! Autoinflammatory syndrome with skin involvement relationship: part_of Orphanet:324924 ! Hereditary periodic fever syndrome property_value: alternative:term "Familial cold autoinflammatory syndrome type 2" xsd:string property_value: alternative:term "FCAS2" xsd:string property_value: alternative:term "NAPS12" xsd:string [Term] id: Orphanet:247871 name: Vitiligo-associated autoimmune disease xref: OMIM:193200 xref: OMIM:606579 xref: OMIM:607836 xref: OMIM:608391 xref: OMIM:608392 xref: OMIM:609400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:290842 ! Autoinflammatory syndrome with skin involvement relationship: part_of Orphanet:324933 ! Mixed autoinflammatory and autoimmune syndrome [Term] id: Orphanet:2479 name: Megalocornea-intellectual deficit syndrome xref: ICD10:Q87.8 xref: OMIM:249310 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature property_value: alternative:term "MMR syndrome" xsd:string property_value: alternative:term "Neuhäuser syndrome" xsd:string [Term] id: Orphanet:248 name: Autosomal recessive hypohidrotic ectodermal dysplasia xref: ICD10:Q82.4 xref: MESH:D053360 xref: OMIM:224900 xref: OMIM:614941 xref: SNOMED CT:27025001 xref: UMLS:C0406702 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:238468 ! Hypohidrotic ectodermal dysplasia property_value: alternative:term "AR-HED" xsd:string property_value: alternative:term "Autosomal recessive anhidrotic ectodermal dysplasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "This disease is described under the entry Hypohidrotic ectodermal dysplasia." xsd:string [Term] id: Orphanet:248095 name: Primary hypertrophic osteoarthropathy xref: ICD10:M89.4 xref: MESH:D010004 xref: UMLS:C0029411 is_a: Orphanet:93444 ! Primary bone dysplasia with increased bone density property_value: alternative:term "Idiopathic hypertrophic osteoarthropathy" xsd:string property_value: alternative:term "PHO" xsd:string [Term] id: Orphanet:2481 name: Neurocutaneous melanocytosis xref: ICD10:D22 xref: MESH:C537387 xref: OMIM:249400 xref: UMLS:C0544862 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:252190 ! Inherited nervous system cancer-predisposing syndrome relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma property_value: alternative:term "NCM" xsd:string property_value: alternative:term "Neurocutaneous melanosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death." xsd:string [Term] id: Orphanet:248111 name: Juvenile Huntington disease xref: ICD10:G10 xref: OMIM:143100 xref: SNOMED CT:230299004 xref: UMLS:C0751208 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:276058 ! Genetic neurodegenerative disease with dementia relationship: part_of Orphanet:306719 ! Neurodegenerative disease with chorea relationship: part_of Orphanet:98534 ! Neurodegenerative disease with dementia relationship: part_of Orphanet:98688 ! Oculomotor apraxia or related oculomotor disease property_value: alternative:term "JHD" xsd:string property_value: alternative:term "Juvenile Huntington chorea" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age." xsd:string [Term] id: Orphanet:2482 name: Melhem-Fahl syndrome xref: ICD10:Q76.4 xref: MESH:C537238 xref: UMLS:C2931453 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93454 ! Dysostosis with predominant vertebral and costal involvement property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report." xsd:string [Term] id: Orphanet:248276 name: mitogen-activated protein kinase 10 xref: ENSEMBL:ENSG00000109339 xref: GENATLAS:MAPK10 xref: HGNC:6872 xref: IUPHAR:1498 xref: OMIM:602897 xref: REACTOME:P53779 xref: UNIPROTKB/SWISSPROT:P53779 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2382 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lennox-Gastaut syndrome property_value: alternative:term "JNK3" xsd:string property_value: alternative:term "p493F12" xsd:string property_value: alternative:term "p54bSAPK" xsd:string property_value: alternative:term "PRKM10" xsd:string property_value: symbol "MAPK10" xsd:string [Term] id: Orphanet:248293 name: Rare deficiency anemia is_a: Orphanet:108997 ! Rare anemia [Term] id: Orphanet:248296 name: Constitutional deficiency anemia is_a: Orphanet:183651 ! Rare constitutional anemia is_a: Orphanet:248293 ! Rare deficiency anemia [Term] id: Orphanet:2483 name: Melkersson-Rosenthal syndrome xref: ICD10:G51.2 xref: MEDDRA:10027166 xref: MESH:D008556 xref: OMIM:155900 xref: SNOMED CT:215617000 xref: SNOMED CT:37770007 xref: UMLS:C0025235 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79384 ! Rare urticaria [Term] id: Orphanet:248302 name: Rare acquired deficiency anemia is_a: Orphanet:248293 ! Rare deficiency anemia [Term] id: Orphanet:248305 name: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency xref: ICD10:D55.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98372 ! Hemolytic anemia due to a disorder of glycolytic enzymes [Term] id: Orphanet:248308 name: Rare hemorrhagic disorder is_a: Orphanet:98429 ! Rare coagulation disorder property_value: alternative:term "Rare bleeding disorder" xsd:string property_value: alternative:term "Rare coagulopathy" xsd:string [Term] id: Orphanet:248315 name: Rare hemorrhagic disorder due to a coagulation factors defect is_a: Orphanet:248308 ! Rare hemorrhagic disorder property_value: alternative:term "Rare bleeding disorder due to a coagulation factors defect" xsd:string property_value: alternative:term "Rare coagulopathy due to a coagulation factor defect" xsd:string [Term] id: Orphanet:248326 name: Rare hemorrhagic disorder due to a platelet anomaly is_a: Orphanet:248308 ! Rare hemorrhagic disorder property_value: alternative:term "Rare bleeding disorder due to a platelet anomaly" xsd:string property_value: alternative:term "Rare bleeding disorder due to a thrombopathy and/or thrombocytopenia" xsd:string property_value: alternative:term "Rare coagulopathy due to a platelet anomaly" xsd:string property_value: alternative:term "Rare coagulopathy due to a thrombopathy and/or thrombocytopenia" xsd:string property_value: alternative:term "Rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia" xsd:string [Term] id: Orphanet:248340 name: Isolated delta-storage pool disease xref: ICD10:D69.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98456 ! Dense granule disease property_value: alternative:term "Isolated delta-SPD" xsd:string property_value: alternative:term "Isolated dense-SPD" xsd:string property_value: alternative:term "Isolated dense-storage pool disease" xsd:string [Term] id: Orphanet:248347 name: Rare hemorrhagic disorder due to an acquired platelet anomaly is_a: Orphanet:248326 ! Rare hemorrhagic disorder due to a platelet anomaly property_value: alternative:term "Rare bleeding disorder due to an acquired platelet anomaly" xsd:string property_value: alternative:term "Rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia" xsd:string property_value: alternative:term "Rare coagulopathy due to an acquired platelet anomaly" xsd:string property_value: alternative:term "Rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia" xsd:string property_value: alternative:term "Rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia" xsd:string [Term] id: Orphanet:248358 name: Rare thrombotic disorder due to a coagulation factors defect is_a: Orphanet:182054 ! Rare thrombotic disease of hematologic origin [Term] id: Orphanet:248361 name: Rare thrombotic disorder due to a constitutional coagulation factors defect is_a: Orphanet:183654 ! Rare genetic coagulation disorder is_a: Orphanet:248358 ! Rare thrombotic disorder due to a coagulation factors defect [Term] id: Orphanet:248365 name: Rare thrombotic disorder due to an acquired coagulation factors defect is_a: Orphanet:248358 ! Rare thrombotic disorder due to a coagulation factors defect [Term] id: Orphanet:248368 name: Rare thrombotic disorder due to a platelet anomaly is_a: Orphanet:182054 ! Rare thrombotic disease of hematologic origin [Term] id: Orphanet:2484 name: Osteodysplasty, Melnick-Needles type xref: ICD10:Q77.8 xref: OMIM:309350 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:364541 ! Fronto-otopalatodigital syndrome relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature property_value: alternative:term "Melnick-Needles syndrome" xsd:string [Term] id: Orphanet:248401 name: Rare thrombotic disorder due to a constitutional platelet anomaly is_a: Orphanet:183654 ! Rare genetic coagulation disorder is_a: Orphanet:248368 ! Rare thrombotic disorder due to a platelet anomaly [Term] id: Orphanet:248404 name: Rare thrombotic disorder due to an acquired platelet anomaly is_a: Orphanet:248368 ! Rare thrombotic disorder due to a platelet anomaly [Term] id: Orphanet:248408 name: Familial hypodysfibrinogenemia xref: ICD10:D68.2 xref: OMIM:202400 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:335 ! Congenital fibrinogen deficiency [Term] id: Orphanet:248481 name: histone deacetylase 6 xref: ENSEMBL:ENSG00000094631 xref: GENATLAS:HDAC6 xref: HGNC:14064 xref: IUPHAR:2618 xref: OMIM:300272 xref: REACTOME:Q9UBN7 xref: UNIPROTKB/SWISSPROT:Q9UBN7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:163966 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked dominant chondrodysplasia, Chassaing-Lacombe type property_value: alternative:term "FLJ16239" xsd:string property_value: alternative:term "HD6" xsd:string property_value: alternative:term "JM21" xsd:string property_value: alternative:term "KIAA0901" xsd:string property_value: symbol "HDAC6" xsd:string [Term] id: Orphanet:248487 name: high mobility group AT-hook 2 xref: ENSEMBL:ENSG00000149948 xref: GENATLAS:HMGA2 xref: HGNC:5009 xref: OMIM:600698 xref: REACTOME:P52926 xref: UNIPROTKB/SWISSPROT:P52926 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:94063 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 12q14 microdeletion syndrome relationship: Orphanet:317349 Orphanet:99970 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dedifferentiated liposarcoma relationship: Orphanet:317349 Orphanet:99971 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Well-differentiated liposarcoma property_value: alternative:term "BABL" xsd:string property_value: alternative:term "high-mobility group (nonhistone chromosomal) protein isoform I-C" xsd:string property_value: alternative:term "HMGIC" xsd:string property_value: alternative:term "LIPO" xsd:string property_value: symbol "HMGA2" xsd:string [Term] id: Orphanet:2485 name: Melorheostosis xref: ICD10:Q78.2 xref: MEDDRA:10050284 xref: MESH:D008557 xref: OMIM:155950 xref: SNOMED CT:44697002 xref: UMLS:C0025239 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2781 ! Osteopetrosis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Melorheostosis is a rare connective tissue disorder characterized by mesodermal benign sclerosing bone dysplasia that manifests with pain, stiffness, limited joint functions and limb swelling leading to functional limitations." xsd:string [Term] id: Orphanet:2486 name: Transverse limb deficiency - hemangioma xref: ICD10:D18.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:211237 ! Vascular tumor [Term] id: Orphanet:2487 name: Lower limb deficiency - hypospadias is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation property_value: alternative:term "Fried-Goldberg-Mundel syndrome" xsd:string [Term] id: Orphanet:2489 name: Upper limb defect - eye and ear abnormalities xref: ICD10:Q87.8 xref: OMIM:274205 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation." xsd:string [Term] id: Orphanet:249 name: Fibrous dysplasia of bone xref: ICD10:Q78.1 xref: MEDDRA:10016664 xref: MESH:D005357 xref: OMIM:174800 xref: SNOMED CT:10623005 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components property_value: alternative:term "Osteofibrous dysplasia" xsd:string [Term] id: Orphanet:2491 name: Mullerian duct anomalies - limb anomalies xref: ICD10:Q87.8 xref: OMIM:146160 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:180148 ! Syndromic uterovaginal malformation relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit [Term] id: Orphanet:2492 name: Limb transversal defect - cardiac anomaly xref: ICD10:Q87.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects property_value: alternative:term "Hecht-Scott syndrome" xsd:string [Term] id: Orphanet:2494 name: Menetrier disease xref: ICD10:K29.6 xref: OMIM:137280 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101936 ! Rare gastro-esophageal disease property_value: alternative:term "Giant hypertrophic gastritis" xsd:string property_value: alternative:term "Hypoproteinemic hypertrophic gastropathy" xsd:string [Term] id: Orphanet:2495 name: Meningioma xref: ICD10:D32.9 xref: MEDDRA:10027191 xref: MESH:D008579 xref: OMIM:606190 xref: SNOMED CT:19453003 xref: UMLS:C0025286 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:252025 ! Tumor of the meninges relationship: part_of Orphanet:95503 ! Pituitary hormone deficiency from tumoral origin [Term] id: Orphanet:2496 name: Mesomelia-synostoses syndrome xref: ICD10:Q74.8 xref: OMIM:600383 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262065 ! Partial deletion of the long arm of chromosome 8 relationship: part_of Orphanet:93437 ! Acromesomelic dysplasia property_value: alternative:term "8q13 microdeletion syndrome" xsd:string property_value: alternative:term "Del(8)q(13)" xsd:string property_value: alternative:term "Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type" xsd:string property_value: alternative:term "Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type" xsd:string property_value: alternative:term "Monosomy 8q13" xsd:string property_value: alternative:term "Verloes-David syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies." xsd:string [Term] id: Orphanet:2497 name: Upper limb mesomelic dysplasia xref: ICD10:Q78.8 xref: OMIM:191440 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93438 ! Mesomelic and rhizo-mesomelic dysplasia property_value: alternative:term "Fryns-Hofkens-Fabry syndrome" xsd:string property_value: alternative:term "Ulna hypoplasia" xsd:string [Term] id: Orphanet:2498 name: Syndactyly type 8 xref: ICD10:Q70.0 xref: OMIM:309630 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: part_of Orphanet:90025 ! Syndactyly property_value: alternative:term "Fusion of metacarpals 4 and 5" xsd:string [Term] id: Orphanet:2499 name: Metachondromatosis xref: ICD10:Q78.4 xref: OMIM:156250 xref: SNOMED CT:205481009 xref: UMLS:C0410530 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components [Term] id: Orphanet:25 name: Glutaryl-CoA dehydrogenase deficiency xref: ICD10:E72.3 xref: MESH:C536833 xref: OMIM:231670 xref: SNOMED CT:360416003 xref: SNOMED CT:76175005 xref: UMLS:C0268595 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79158 ! Cerebral organic aciduria property_value: alternative:term "GA1" xsd:string property_value: alternative:term "GCDHD" xsd:string property_value: alternative:term "Glutaric acidemia type 1" xsd:string property_value: alternative:term "Glutaric aciduria type 1" xsd:string property_value: alternative:term "Glutaryl-coenzyme A dehydrogenase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder." xsd:string [Term] id: Orphanet:250 name: Frontonasal dysplasia xref: ICD10:Q75.8 xref: MESH:C538065 xref: OMIM:136760 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:141234 ! Median facial cleft relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:93453 ! Dysostosis with predominant craniofacial involvement property_value: alternative:term "Median cleft syndrome" xsd:string [Term] id: Orphanet:2500 name: Acrogeria xref: MESH:C538187 xref: OMIM:201200 xref: SNOMED CT:238871000 xref: SNOMED CT:238872007 xref: UMLS:C0238590 xref: UMLS:C0406584 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:79389 ! Premature aging property_value: alternative:term "Acrogeria, Gottron type" xsd:string property_value: alternative:term "Acrometageria" xsd:string property_value: alternative:term "Gottron syndrome" xsd:string [Term] id: Orphanet:2501 name: Metaphyseal chondrodysplasia, Spahr type xref: ICD10:Q78.5 xref: MESH:C537353 xref: OMIM:250400 xref: SNOMED CT:254084008 xref: UMLS:C0432225 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:93430 ! Multiple metaphyseal dysplasia [Term] id: Orphanet:250165 name: Genetic polycythemia is_a: Orphanet:158300 ! Rare genetic hematologic disease [Term] id: Orphanet:250168 name: polymerase (RNA) I polypeptide D, 16kDa xref: ENSEMBL:ENSG00000186184 xref: GENATLAS:POLR1D xref: HGNC:20422 xref: OMIM:613715 xref: REACTOME:Q9Y2S0 xref: UNIPROTKB/SWISSPROT:Q9Y2S0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Treacher-Collins syndrome property_value: alternative:term "MGC9850" xsd:string property_value: alternative:term "RPA16" xsd:string property_value: alternative:term "RPA9" xsd:string property_value: alternative:term "RPAC2" xsd:string property_value: alternative:term "RPO1-3" xsd:string property_value: symbol "POLR1D" xsd:string [Term] id: Orphanet:250175 name: magnesium transporter 1 xref: ENSEMBL:ENSG00000102158 xref: GENATLAS:MAGT1 xref: HGNC:28880 xref: OMIM:300715 xref: REACTOME:Q9H0U3 xref: UNIPROTKB/SWISSPROT:Q9H0U3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:317476 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit property_value: alternative:term "DKFZp564K142" xsd:string property_value: alternative:term "IAP" xsd:string property_value: alternative:term "MRX95" xsd:string property_value: alternative:term "oligosaccharyltransferase 3 homolog B (S. cerevisiae)" xsd:string property_value: alternative:term "OST3B" xsd:string property_value: symbol "MAGT1" xsd:string [Term] id: Orphanet:250181 name: growth differentiation factor 3 xref: ENSEMBL:ENSG00000184344 xref: GENATLAS:GDF3 xref: HGNC:4218 xref: OMIM:606522 xref: UNIPROTKB/SWISSPROT:Q9NR23 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2345 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated Klippel-Feil syndrome relationship: Orphanet:317343 Orphanet:2542 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated anophthalmia - microphthalmia relationship: Orphanet:317343 Orphanet:98938 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Colobomatous microphthalmia property_value: symbol "GDF3" xsd:string [Term] id: Orphanet:250183 name: polymerase (RNA) I polypeptide C, 30kDa xref: ENSEMBL:ENSG00000171453 xref: GENATLAS:POLR1C xref: HGNC:20194 xref: OMIM:610060 xref: REACTOME:O15160 xref: UNIPROTKB/SWISSPROT:O15160 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Treacher-Collins syndrome property_value: alternative:term "RPA39" xsd:string property_value: alternative:term "RPA40" xsd:string property_value: alternative:term "RPA5" xsd:string property_value: alternative:term "RPAC1" xsd:string property_value: symbol "POLR1C" xsd:string [Term] id: Orphanet:2502 name: Metaphyseal dysostosis - intellectual deficit - conductive deafness xref: ICD10:Q78.5 xref: OMIM:250420 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:93430 ! Multiple metaphyseal dysplasia [Term] id: Orphanet:2504 name: Metaphyseal dysplasia - maxillary hypoplasia - brachydacty xref: ICD10:Q77.8 xref: OMIM:156510 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93430 ! Multiple metaphyseal dysplasia [Term] id: Orphanet:2505 name: Multiple benign circumferential skin creases on limbs xref: ICD10:Q82.8 xref: MESH:C537575 xref: OMIM:156610 xref: SNOMED CT:239142006 xref: UMLS:C0473586 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:79385 ! Unclassified genetic skin disease property_value: alternative:term "CCSF" xsd:string property_value: alternative:term "Congenital circumferential skin folds" xsd:string property_value: alternative:term "Kunze-Riehm syndrome" xsd:string property_value: alternative:term "Michelin tire baby syndrome" xsd:string property_value: alternative:term "MTBS" xsd:string [Term] id: Orphanet:2506 name: Michels syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_293843 with label: Craniofacial-ulnar-renal syndrome" xsd:string [Term] id: Orphanet:2508 name: Micrencephaly - corpus callosum agenesis - abnormal genitalia xref: OMIM:300004 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:182079 ! ARX-related epileptic encephalopathy relationship: part_of Orphanet:199639 ! Syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:269573 ! Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Proud-Levine-Carpenter syndrome" xsd:string [Term] id: Orphanet:250831 name: Logopenic progressive aphasia xref: ICD10:G31.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:95432 ! Primary progressive aphasia property_value: alternative:term "Logopenic primary progressive aphasia" xsd:string property_value: alternative:term "Logopenic variant PPA" xsd:string property_value: alternative:term "LPA" xsd:string [Term] id: Orphanet:250908 name: Rare oncologic disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:250923 name: Isolated aniridia xref: ICD10:Q13.1 xref: OMIM:106210 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: part_of Orphanet:77 ! Aniridia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris." xsd:string [Term] id: Orphanet:250932 name: Autosomal dominant optic atrophy and peripheral neuropathy xref: ICD10:H47.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:254822 ! Mitochondrial oxidative phosphorylation disorder with no known mechanism relationship: part_of Orphanet:98672 ! Autosomal dominant optic atrophy property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance." xsd:string [Term] id: Orphanet:250972 name: Polymicrogyria with optic nerve hypoplasia xref: OMIM:613180 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:137905 ! Syndromic optic nerve hypoplasia relationship: part_of Orphanet:166478 ! Cerebral malformation with epilepsy relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature relationship: part_of Orphanet:269564 ! Genetic syndrome with a central nervous system malformation as major feature [Term] id: Orphanet:250977 name: AICA-ribosiduria xref: ICD10:E79.8 xref: OMIM:608688 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:79191 ! Disorder of purine metabolism relationship: part_of Orphanet:98664 ! Genetic macular dystrophy property_value: alternative:term "5-amino-4-imidazole carboxamide ribosiduria" xsd:string property_value: alternative:term "ATIC deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness." xsd:string [Term] id: Orphanet:250984 name: Autosomal recessive Stickler syndrome xref: ICD10:Q15.8 xref: ICD10:Q87.5 xref: OMIM:614134 xref: OMIM:614284 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:828 ! Stickler syndrome relationship: part_of Orphanet:93429 ! Multiple epiphyseal dysplasia and pseudoachondroplasia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms" xsd:string [Term] id: Orphanet:250989 name: 1q21.1 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:612474 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:262001 ! Partial deletion of the long arm of chromosome 1 property_value: alternative:term "Del(1)(q21)" xsd:string property_value: alternative:term "Monosomy 1q21.1" xsd:string [Term] id: Orphanet:250994 name: 1q21.1 microduplication syndrome xref: ICD10:Q92.3 xref: OMIM:612475 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262833 ! Partial duplication of the long arm of chromosome 1 property_value: alternative:term "Dup(1)(q21.1)" xsd:string property_value: alternative:term "Trisomy 1q21.1" xsd:string [Term] id: Orphanet:250999 name: 1q41q42 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:612530 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:262001 ! Partial deletion of the long arm of chromosome 1 property_value: alternative:term "1q41-q42 microdeletion syndrome" xsd:string property_value: alternative:term "Del(1)(q41q42)" xsd:string property_value: alternative:term "Monosomy 1q41-q42" xsd:string property_value: alternative:term "Monosomy 1q41q42" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease." xsd:string [Term] id: Orphanet:251 name: Multiple epiphyseal dysplasia xref: ICD10:Q77.3 xref: MEDDRA:10028197 xref: SNOMED CT:59708000 xref: UMLS:C0026760 is_a: Orphanet:93429 ! Multiple epiphyseal dysplasia and pseudoachondroplasia relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "Polyepiphyseal dysplasia" xsd:string [Term] id: Orphanet:2510 name: Micro syndrome xref: ICD10:Q87.0 xref: OMIM:600118 xref: OMIM:614222 xref: OMIM:614225 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102010 ! Other syndrome with lissencephaly as a major feature relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:202948 ! Syndromic microphthalmia property_value: alternative:term "WARBM" xsd:string property_value: alternative:term "Warburg micro syndrome" xsd:string [Term] id: Orphanet:251004 name: Paternal uniparental disomy of chromosome 1 xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98154 ! Uniparental disomy of paternal origin property_value: alternative:term "UPD(1)pat" xsd:string [Term] id: Orphanet:251009 name: Maternal uniparental disomy of chromosome 1 xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98153 ! Uniparental disomy of maternal origin property_value: alternative:term "UPD(1)mat" xsd:string [Term] id: Orphanet:251014 name: 2q31.1 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:262010 ! Partial deletion of the long arm of chromosome 2 property_value: alternative:term "Del(2)(q31.1)" xsd:string property_value: alternative:term "Monosomy 2q31.1" xsd:string [Term] id: Orphanet:251019 name: 2q32q33 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:612313 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262010 ! Partial deletion of the long arm of chromosome 2 property_value: alternative:term "2q32-q33 microdeletion syndrome" xsd:string property_value: alternative:term "Del(2)(q32)" xsd:string property_value: alternative:term "Del(2)(q32q33)" xsd:string property_value: alternative:term "Monosomy 2q32" xsd:string property_value: alternative:term "Monosomy 2q32-q33" xsd:string property_value: alternative:term "Monosomy 2q32q33" xsd:string [Term] id: Orphanet:251028 name: 2q33.1 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:262010 ! Partial deletion of the long arm of chromosome 2 property_value: alternative:term "Del(2)(q33.1)" xsd:string property_value: alternative:term "Monosomy 2q33.1" xsd:string [Term] id: Orphanet:251038 name: 3q29 microduplication xref: ICD10:Q92.3 xref: OMIM:611936 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:262851 ! Partial duplication of the long arm of chromosome 3 property_value: alternative:term "Trisomy 3q29" xsd:string [Term] id: Orphanet:251043 name: Ring chromosome 5 xref: ICD10:Q93.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:363203 ! Ring chromosome [Term] id: Orphanet:251046 name: 6p22 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:261902 ! Partial deletion of the short arm of chromosome 6 property_value: alternative:term "Del(6)(p22)" xsd:string property_value: alternative:term "Monosomy 6p22" xsd:string [Term] id: Orphanet:251056 name: 6q25 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:612863 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262047 ! Partial deletion of the long arm of chromosome 6 property_value: alternative:term "Del(6)(q25)" xsd:string property_value: alternative:term "Monosomy 6q25" xsd:string [Term] id: Orphanet:251061 name: 7q31 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262056 ! Partial deletion of the long arm of chromosome 7 property_value: alternative:term "Del(7)(q31)" xsd:string property_value: alternative:term "Monosomy 7q31" xsd:string [Term] id: Orphanet:251066 name: 8p11.2 deletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:261920 ! Partial deletion of the short arm of chromosome 8 property_value: alternative:term "Del(8)(p11.2)" xsd:string property_value: alternative:term "Monosomy 8p11.2" xsd:string [Term] id: Orphanet:251071 name: 8p23.1 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:261920 ! Partial deletion of the short arm of chromosome 8 property_value: alternative:term "Del(8)(p23.1)" xsd:string property_value: alternative:term "Monosomy 8p23.1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects." xsd:string [Term] id: Orphanet:251076 name: 8p23.1 microduplication syndrome xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:262758 ! Partial duplication of the short arm of chromosome 8 property_value: alternative:term "Dup(8)(p23.1)" xsd:string property_value: alternative:term "Trisomy 8p23.1" xsd:string [Term] id: Orphanet:2511 name: Microbrachycephaly - ptosis - cleft lip xref: ICD10:Q87.0 xref: OMIM:268850 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Richieri Costa-Guion Almeida-Ramos syndrome" xsd:string [Term] id: Orphanet:2512 name: Autosomal recessive primary microcephaly xref: ICD10:Q02 xref: OMIM:251200 xref: OMIM:603802 xref: OMIM:604317 xref: OMIM:604321 xref: OMIM:604804 xref: OMIM:608393 xref: OMIM:608716 xref: OMIM:612703 xref: OMIM:614673 xref: OMIM:614852 xref: OMIM:615414 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:199642 ! Isolated congenital microcephaly relationship: part_of Orphanet:98692 ! Nervous system anomaly with eye involvement property_value: alternative:term "MCPH" xsd:string property_value: alternative:term "Microcephalia vera" xsd:string property_value: alternative:term "Microcephaly vera" xsd:string property_value: alternative:term "True microcephaly" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment." xsd:string [Term] id: Orphanet:251262 name: Familial osteochondritis dissecans xref: ICD10:M93.2 xref: OMIM:165800 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2764 ! Osteochondritis dissecans relationship: part_of Orphanet:364817 ! Aggrecan-related bone disorder property_value: alternative:term "Osteochondritis dissecans and short stature" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence." xsd:string [Term] id: Orphanet:251270 name: Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase xref: ENSEMBL:ENSG00000109618 xref: GENATLAS:SEPSECS xref: HGNC:30605 xref: OMIM:613009 xref: UNIPROTKB/SWISSPROT:Q9HD40 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:247198 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive cerebello-cerebral atrophy relationship: Orphanet:317343 Orphanet:2524 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pontocerebellar hypoplasia type 2 property_value: alternative:term "SLA" xsd:string property_value: alternative:term "SLA/LP" xsd:string property_value: alternative:term "soluble liver antigen/liver pancreas antigen" xsd:string property_value: symbol "SEPSECS" xsd:string [Term] id: Orphanet:251274 name: Familial hyperaldosteronism type 3 xref: ICD10:E26.0 xref: OMIM:613677 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:235936 ! Familial hyperaldosteronism [Term] id: Orphanet:251279 name: Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen xref: ICD10:Q15.8 xref: OMIM:611040 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2542 ! Isolated anophthalmia - microphthalmia [Term] id: Orphanet:251282 name: Autosomal dominant spastic ataxia 1 xref: ICD10:G11.4 xref: OMIM:108600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:316235 ! Autosomal dominant spastic ataxia property_value: alternative:term "SPAX1" xsd:string [Term] id: Orphanet:251287 name: Benign concentric annular macular dystrophy xref: ICD10:H35.5 xref: OMIM:153870 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98664 ! Genetic macular dystrophy property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bull’s eye configuration." xsd:string [Term] id: Orphanet:251290 name: Parietal foramina with cleidocranial dysplasia xref: ICD10:Q74.0 xref: OMIM:168550 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93451 ! Cleidocranial dysplasia and isolated cranial ossification defect relationship: part_of Orphanet:98038 ! Cranial malformation property_value: alternative:term "Parietal foramina with cleidocranial dysostosis" xsd:string [Term] id: Orphanet:251295 name: Pigmented paravenous retinochoroidal atrophy xref: ICD10:H35.5 xref: OMIM:172870 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:71862 ! Retinal dystrophy property_value: alternative:term "PPRCA" xsd:string [Term] id: Orphanet:2513 name: Microcephaly - albinism - digital anomalies xref: MESH:C537322 xref: OMIM:203340 xref: UMLS:C1859910 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Castro Gago-Pombo-Novo syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe." xsd:string [Term] id: Orphanet:251304 name: Infantile onset panniculitis with uveitis and systemic granulomatosis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:290842 ! Autoinflammatory syndrome with skin involvement relationship: part_of Orphanet:324930 ! Granulomatous autoinflammatory syndrome [Term] id: Orphanet:251307 name: Idiopathic recurrent pericarditis xref: ICD10:E85.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:324936 ! Unclassified autoinflammatory syndrome property_value: alternative:term "Idiopathic relapsing pericarditis" xsd:string [Term] id: Orphanet:251312 name: Overlapping connective tissue disease xref: ICD10:M35.1 is_a: Orphanet:182228 ! Systemic autoimmune disease [Term] id: Orphanet:251316 name: Unclassified overlapping connective tissue disease xref: ICD10:M35.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251312 ! Overlapping connective tissue disease [Term] id: Orphanet:251325 name: Drug-induced vasculitis is_a: Orphanet:52759 ! Vasculitis [Term] id: Orphanet:251328 name: Unclassified vasculitis is_a: Orphanet:52759 ! Vasculitis [Term] id: Orphanet:251332 name: Unexplained long-lasting fever/inflammatory syndrome is_a: Orphanet:182222 ! Rare systemic disease [Term] id: Orphanet:251347 name: Ataxia-telangiectasia-like disorder xref: OMIM:604391 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:169346 ! DNA repair defect other than combined T-cell and B-cell immunodeficiencies relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:252190 ! Inherited nervous system cancer-predisposing syndrome relationship: part_of Orphanet:79379 ! Skin vascular disease relationship: part_of Orphanet:98097 ! Autosomal recessive cerebellar ataxia due to a DNA repair defect property_value: alternative:term "ATLD" xsd:string [Term] id: Orphanet:251355 name: Sickle cell disease associated with an other hemoglobin anomaly xref: ICD10:D57.2 is_a: Orphanet:275752 ! Sickle cell disease and related diseases property_value: alternative:term "Double heterozygotes sickling disorder" xsd:string [Term] id: Orphanet:251359 name: Sickle cell - beta-thalassemia disease xref: ICD10:D57.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:251355 ! Sickle cell disease associated with an other hemoglobin anomaly property_value: alternative:term "HbS - beta-thalassemia" xsd:string [Term] id: Orphanet:251365 name: Sickle cell - hemoglobin C disease xref: ICD10:D57.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:251355 ! Sickle cell disease associated with an other hemoglobin anomaly property_value: alternative:term "HbSC disease" xsd:string [Term] id: Orphanet:251370 name: Sickle cell - hemoglobin D disease xref: ICD10:D57.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:251355 ! Sickle cell disease associated with an other hemoglobin anomaly property_value: alternative:term "HbSD disease" xsd:string [Term] id: Orphanet:251375 name: Sickle cell - hemoglobin E disease xref: ICD10:D57.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:251355 ! Sickle cell disease associated with an other hemoglobin anomaly property_value: alternative:term "HbSE disease" xsd:string [Term] id: Orphanet:251380 name: Hereditary persistence of fetal hemoglobin - sickle cell disease xref: ICD10:D57.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:251355 ! Sickle cell disease associated with an other hemoglobin anomaly property_value: alternative:term "HPFH - sickle cell disease" xsd:string [Term] id: Orphanet:251383 name: CK syndrome xref: OMIM:300831 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature relationship: part_of Orphanet:269564 ! Genetic syndrome with a central nervous system malformation as major feature property_value: alternative:term "X-linked intellectual deficit - microcephaly - cortical malformation - thin habitus" xsd:string [Term] id: Orphanet:251393 name: Localized junctional epidermolysis bullosa, non-Herlitz type xref: ICD10:Q81.8 xref: OMIM:226650 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:89840 ! Junctional epidermolysis bullosa, non-Herlitz type property_value: alternative:term "JEB-nH loc" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails." xsd:string [Term] id: Orphanet:2514 name: Autosomal dominant microcephaly xref: ICD10:Q02 xref: MESH:C537323 xref: OMIM:156580 xref: UMLS:C0220693 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:199642 ! Isolated congenital microcephaly relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit [Term] id: Orphanet:2515 name: Microcephaly - cardiomyopathy xref: ICD10:Q87.8 xref: MESH:C536711 xref: MESH:C537324 xref: OMIM:251220 xref: UMLS:C0796061 xref: UMLS:C1855080 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:217619 ! Syndrome associated with dilated cardiomyopathy relationship: part_of Orphanet:269528 ! Syndrome with microcephaly as major feature property_value: alternative:term "Winship-Viljoen-Leary syndrome" xsd:string [Term] id: Orphanet:251503 name: phosphatidylinositol glycan anchor biosynthesis, class V xref: ENSEMBL:ENSG00000060642 xref: GENATLAS:PIGV xref: HGNC:26031 xref: OMIM:610274 xref: REACTOME:Q9NUD9 xref: UNIPROTKB/SWISSPROT:Q9NUD9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:247262 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperphosphatasia-intellectual deficiency syndrome property_value: alternative:term "dol-P-Man dependent GPI mannosyltransferase" xsd:string property_value: alternative:term "FLJ20477" xsd:string property_value: alternative:term "GPI mannosyltransferase 2" xsd:string property_value: alternative:term "phosphatidylinositol glycan, class V" xsd:string property_value: symbol "PIGV" xsd:string [Term] id: Orphanet:251510 name: 46,XY partial gonadal dysgenesis xref: ICD10:Q56.1 xref: OMIM:154230 xref: OMIM:300018 xref: OMIM:612965 xref: OMIM:613762 xref: OMIM:615542 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:325118 ! 46,XY disorder of gonadal development relationship: part_of Orphanet:98074 ! Gonadal dysgenesis of gynecological interest property_value: alternative:term "46,XY partial testicular dysgenesis" xsd:string property_value: alternative:term "46,XY PGD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype." xsd:string [Term] id: Orphanet:251515 name: Distal arthrogryposis type 10 xref: OMIM:187370 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:97120 ! Distal arthrogryposis property_value: alternative:term "DA10" xsd:string property_value: alternative:term "Plantar flexion contracture" xsd:string property_value: alternative:term "Short tendo calcaneus" xsd:string [Term] id: Orphanet:251523 name: Recurrent infections - inflammatory syndrome due to zinc metabolism disorder xref: ICD10:E83.2 xref: OMIM:194470 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183681 ! Functional neutrophil defect relationship: part_of Orphanet:309845 ! Disorder of zinc metabolism property_value: alternative:term "Hyperzincemia and hypercalprotectinemia" xsd:string [Term] id: Orphanet:251529 name: Toxic or drug-related embryofetopathy is_a: Orphanet:52662 ! Rare teratologic disease [Term] id: Orphanet:251535 name: Maternal disease-related embryofetopathy is_a: Orphanet:52662 ! Rare teratologic disease [Term] id: Orphanet:251558 name: Tumor of the neuroepithelial tissue is_a: Orphanet:98062 ! Rare nervous system tumor property_value: alternative:term "Rare tumor of the neuroepithelial tissue" xsd:string [Term] id: Orphanet:251561 name: High-grade astrocytoma is_a: Orphanet:94 ! Astrocytoma [Term] id: Orphanet:251576 name: Gliosarcoma is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:360 ! Glioblastoma [Term] id: Orphanet:251579 name: Giant cell glioblastoma is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:360 ! Glioblastoma [Term] id: Orphanet:251582 name: Gliomatosis cerebri is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:251561 ! High-grade astrocytoma [Term] id: Orphanet:251589 name: Anaplastic astrocytoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:251561 ! High-grade astrocytoma [Term] id: Orphanet:251592 name: Low-grade astrocytoma is_a: Orphanet:94 ! Astrocytoma [Term] id: Orphanet:251595 name: Diffuse astrocytoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251592 ! Low-grade astrocytoma [Term] id: Orphanet:251598 name: Protoplasmic astrocytoma is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:251595 ! Diffuse astrocytoma [Term] id: Orphanet:2516 name: Microcephaly - cardiac defect - lung malsegmentation xref: ICD10:Q87.8 xref: OMIM:601355 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:156532 ! Rare syndrome with cardiac malformations relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Ellis-Yale-Winter syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate." xsd:string [Term] id: Orphanet:251601 name: Fibrillary astrocytoma is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:251595 ! Diffuse astrocytoma [Term] id: Orphanet:251604 name: Gemistocytic astrocytoma is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:251595 ! Diffuse astrocytoma [Term] id: Orphanet:251607 name: Pleomorphic xanthoastrocytoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:251592 ! Low-grade astrocytoma property_value: alternative:term "PXA" xsd:string [Term] id: Orphanet:251612 name: Pilocytic astrocytoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:251592 ! Low-grade astrocytoma [Term] id: Orphanet:251615 name: Pilomyxoid astrocytoma is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:251612 ! Pilocytic astrocytoma [Term] id: Orphanet:251618 name: Subependymal giant cell astrocytoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251592 ! Low-grade astrocytoma property_value: alternative:term "SEGA" xsd:string [Term] id: Orphanet:251623 name: Pituicytoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:251592 ! Low-grade astrocytoma [Term] id: Orphanet:251627 name: Oligodendroglioma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:46484 ! Oligodendroglial tumor [Term] id: Orphanet:251630 name: Anaplastic oligodendroglioma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:46484 ! Oligodendroglial tumor [Term] id: Orphanet:251633 name: Low grade ependymoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:301 ! Ependymal tumor [Term] id: Orphanet:251636 name: Ependymoma is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:251633 ! Low grade ependymoma [Term] id: Orphanet:251639 name: Subependymoma is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:251633 ! Low grade ependymoma [Term] id: Orphanet:251643 name: Myxopapillary ependymoma is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: part_of Orphanet:251633 ! Low grade ependymoma [Term] id: Orphanet:251646 name: Anaplastic ependymoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:301 ! Ependymal tumor property_value: alternative:term "High-grade ependymoma" xsd:string [Term] id: Orphanet:251651 name: Oligoastrocytic tumor is_a: Orphanet:182067 ! Glial tumor property_value: alternative:term "Mixed oligodendroglial and astrocytic tumor" xsd:string [Term] id: Orphanet:251656 name: Oligoastrocytoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251651 ! Oligoastrocytic tumor property_value: alternative:term "Mixed oligoastrocytoma" xsd:string property_value: alternative:term "MOA" xsd:string [Term] id: Orphanet:251663 name: Anaplastic oligoastrocytoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251651 ! Oligoastrocytic tumor property_value: alternative:term "aMOA" xsd:string [Term] id: Orphanet:251668 name: Glial tumor of the neuroepithelial tissue with unknown origin is_a: Orphanet:182067 ! Glial tumor [Term] id: Orphanet:251671 name: Angiocentric glioma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: part_of Orphanet:251668 ! Glial tumor of the neuroepithelial tissue with unknown origin [Term] id: Orphanet:251674 name: Chordoid glioma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251668 ! Glial tumor of the neuroepithelial tissue with unknown origin [Term] id: Orphanet:251679 name: Astroblastoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:251668 ! Glial tumor of the neuroepithelial tissue with unknown origin [Term] id: Orphanet:251683 name: poliovirus receptor-related 4 xref: ENSEMBL:ENSG00000143217 xref: GENATLAS:PVRL4 xref: HGNC:19688 xref: OMIM:609607 xref: REACTOME:Q96NY8 xref: UNIPROTKB/SWISSPROT:Q96NY8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:247820 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ectodermal dysplasia - syndactyly syndrome property_value: alternative:term "LNIR" xsd:string property_value: alternative:term "nectin-4" xsd:string property_value: alternative:term "PRR4" xsd:string property_value: symbol "PVRL4" xsd:string [Term] id: Orphanet:251688 name: retinitis pigmentosa 1-like 1 xref: ENSEMBL:ENSG00000183638 xref: GENATLAS:RP1L1 xref: HGNC:15946 xref: OMIM:608581 xref: UNIPROTKB/SWISSPROT:Q8IWN7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:247834 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Occult macular dystrophy relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "DCDC4B" xsd:string property_value: symbol "RP1L1" xsd:string [Term] id: Orphanet:2518 name: Autosomal recessive chorioretinopathy-microcephaly xref: OMIM:251270 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:71862 ! Retinal dystrophy relationship: part_of Orphanet:98692 ! Nervous system anomaly with eye involvement property_value: alternative:term "Pseudotoxoplasmosis syndrome" xsd:string [Term] id: Orphanet:251852 name: Embryonal tumor of the neuroepithelial tissue is_a: Orphanet:251558 ! Tumor of the neuroepithelial tissue [Term] id: Orphanet:251855 name: Anaplastic/large cell medulloblastoma is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:616 ! Medulloblastoma [Term] id: Orphanet:251858 name: Medulloblastoma with extensive nodularity xref: OMIM:155255 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:616 ! Medulloblastoma property_value: alternative:term "Cerebellar neuroblastoma" xsd:string [Term] id: Orphanet:251863 name: Desmoplastic/nodular medulloblastoma xref: OMIM:155255 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:616 ! Medulloblastoma [Term] id: Orphanet:251867 name: Classic medulloblastoma xref: OMIM:155255 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:616 ! Medulloblastoma [Term] id: Orphanet:251870 name: Central nervous system primitive neuroectodermal tumor is_a: Orphanet:251852 ! Embryonal tumor of the neuroepithelial tissue property_value: alternative:term "Central nervous system PNET" xsd:string property_value: alternative:term "CNS PNET" xsd:string [Term] id: Orphanet:251877 name: Ganglioneuroblastoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:251870 ! Central nervous system primitive neuroectodermal tumor [Term] id: Orphanet:251880 name: Ependymoblastoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:251870 ! Central nervous system primitive neuroectodermal tumor [Term] id: Orphanet:251883 name: Medulloepithelioma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:251870 ! Central nervous system primitive neuroectodermal tumor [Term] id: Orphanet:251891 name: Atypical teratoid/rhabdoid tumor is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:251852 ! Embryonal tumor of the neuroepithelial tissue property_value: alternative:term "AT/RT" xsd:string [Term] id: Orphanet:251896 name: Choroid plexus tumor is_a: Orphanet:251558 ! Tumor of the neuroepithelial tissue [Term] id: Orphanet:251899 name: Choroid plexus carcinoma xref: OMIM:260500 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:251896 ! Choroid plexus tumor [Term] id: Orphanet:2519 name: Microcephaly - seizures - intellectual deficit - heart disease xref: ICD10:Q87.8 xref: MESH:C537544 xref: UMLS:C2931529 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:251902 name: Atypical papilloma of choroid plexus is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251896 ! Choroid plexus tumor [Term] id: Orphanet:251905 name: Pineal tumor of the neuroepithelial tissue is_a: Orphanet:251558 ! Tumor of the neuroepithelial tissue [Term] id: Orphanet:251909 name: Pineoblastoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251905 ! Pineal tumor of the neuroepithelial tissue [Term] id: Orphanet:251912 name: Pineocytoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251905 ! Pineal tumor of the neuroepithelial tissue [Term] id: Orphanet:251915 name: Papillary tumour of the pineal region is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:251905 ! Pineal tumor of the neuroepithelial tissue [Term] id: Orphanet:251919 name: Pineal parenchymal tumor of intermediate differenciation is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251905 ! Pineal tumor of the neuroepithelial tissue [Term] id: Orphanet:251924 name: Neuronal tumor is_a: Orphanet:251558 ! Tumor of the neuroepithelial tissue [Term] id: Orphanet:251927 name: Extraventricular neurocytoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251924 ! Neuronal tumor [Term] id: Orphanet:251931 name: Cerebellar liponeurocytoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:251924 ! Neuronal tumor [Term] id: Orphanet:251934 name: Mixed neuronal-glial tumor is_a: Orphanet:251558 ! Tumor of the neuroepithelial tissue [Term] id: Orphanet:251937 name: Gangliocytoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251934 ! Mixed neuronal-glial tumor [Term] id: Orphanet:251940 name: Desmoplastic infantile astrocytoma/ganglioglioma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:251934 ! Mixed neuronal-glial tumor property_value: alternative:term "DIA/DIG" xsd:string [Term] id: Orphanet:251946 name: Dysembryoplastic neuroepithelial tumor is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:251934 ! Mixed neuronal-glial tumor property_value: alternative:term "DNET" xsd:string [Term] id: Orphanet:251949 name: Ganglioglioma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251934 ! Mixed neuronal-glial tumor [Term] id: Orphanet:251957 name: Anaplastic ganglioglioma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251934 ! Mixed neuronal-glial tumor [Term] id: Orphanet:251962 name: Papillary glioneuronal tumor is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251934 ! Mixed neuronal-glial tumor property_value: alternative:term "PGNT" xsd:string property_value: alternative:term "Pseudopapillary ganglioglioneurocytoma" xsd:string property_value: alternative:term "Pseudopapillary neurocytoma with glial differentiation" xsd:string [Term] id: Orphanet:251975 name: Rosette-forming glioneuronal tumour of the fourth ventricule is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251934 ! Mixed neuronal-glial tumor property_value: alternative:term "DNT of the cerebellum" xsd:string property_value: alternative:term "Dysembryoplastic neuroepithelial tumor of the cerebellum" xsd:string property_value: alternative:term "RGNT" xsd:string [Term] id: Orphanet:251992 name: Ganglioneuroma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251934 ! Mixed neuronal-glial tumor [Term] id: Orphanet:251995 name: Primary germ cell tumor of the central nervous system is_a: Orphanet:98062 ! Rare nervous system tumor [Term] id: Orphanet:252006 name: Yolk sac tumor of the central nervous system is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251995 ! Primary germ cell tumor of the central nervous system property_value: alternative:term "Endodermal sinus tumor of the central nervous system" xsd:string property_value: alternative:term "Intracranial endodermal sinus tumor" xsd:string property_value: alternative:term "Intracranial yolk sac tumor" xsd:string [Term] id: Orphanet:252015 name: Choriocarcinoma of the central nervous system is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251995 ! Primary germ cell tumor of the central nervous system [Term] id: Orphanet:252018 name: Teratoma of the central nervous system is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:251995 ! Primary germ cell tumor of the central nervous system relationship: part_of Orphanet:883 ! Teratoma [Term] id: Orphanet:252021 name: Mixed germ cell tumor of the central nervous system is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251995 ! Primary germ cell tumor of the central nervous system [Term] id: Orphanet:252025 name: Tumor of the meninges is_a: Orphanet:98062 ! Rare nervous system tumor [Term] id: Orphanet:252028 name: Primary melanocytic tumor of the central nervous system is_a: Orphanet:252025 ! Tumor of the meninges property_value: alternative:term "Primary melanocytic lesion of the central nervous system" xsd:string [Term] id: Orphanet:252031 name: Diffuse leptomeningeal melanocytosis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:252028 ! Primary melanocytic tumor of the central nervous system property_value: alternative:term "DLM" xsd:string property_value: alternative:term "Leptomeningeal melanomatosis" xsd:string [Term] id: Orphanet:252046 name: Meningeal melanocytoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:252028 ! Primary melanocytic tumor of the central nervous system [Term] id: Orphanet:252050 name: Primary melanoma of the central nervous system is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:252028 ! Primary melanocytic tumor of the central nervous system [Term] id: Orphanet:252054 name: Hemangioblastoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98062 ! Rare nervous system tumor [Term] id: Orphanet:252057 name: Tumor of cranial and spinal nerves is_a: Orphanet:98062 ! Rare nervous system tumor property_value: alternative:term "Rare tumor of cranial and spinal nerves" xsd:string [Term] id: Orphanet:2521 name: Microcephaly - cleft palate xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Halal syndrome" xsd:string [Term] id: Orphanet:252117 name: mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) xref: ENSEMBL:ENSG00000127241 xref: GENATLAS:MASP1 xref: HGNC:6901 xref: OMIM:600521 xref: REACTOME:P48740 xref: UNIPROTKB/SWISSPROT:P48740 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:293843 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Craniofacial-ulnar-renal syndrome property_value: alternative:term "CRARF" xsd:string property_value: alternative:term "mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)" xsd:string property_value: alternative:term "MASP" xsd:string property_value: alternative:term "PRSS5" xsd:string property_value: symbol "MASP1" xsd:string [Term] id: Orphanet:252128 name: Malignant perineurioma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:85102 ! Perineurioma [Term] id: Orphanet:252131 name: Benign peripheral nerve sheath tumor is_a: Orphanet:252057 ! Tumor of cranial and spinal nerves property_value: alternative:term "BPNST" xsd:string [Term] id: Orphanet:252164 name: Benign schwannoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:252131 ! Benign peripheral nerve sheath tumor property_value: alternative:term "Neurilemmoma" xsd:string property_value: alternative:term "Neurilemoma" xsd:string property_value: alternative:term "Neurolemmoma" xsd:string property_value: alternative:term "Peripheral fibroblastoma" xsd:string [Term] id: Orphanet:252175 name: Vestibular schwannoma is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:252164 ! Benign schwannoma property_value: alternative:term "Acoustic neurilemoma" xsd:string property_value: alternative:term "Acoustic neurinoma" xsd:string property_value: alternative:term "Acoustic neuroma" xsd:string [Term] id: Orphanet:252183 name: Neurofibroma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:252131 ! Benign peripheral nerve sheath tumor [Term] id: Orphanet:252190 name: Inherited nervous system cancer-predisposing syndrome is_a: Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:2522 name: Microcephaly - cervical spine fusion anomalies xref: ICD10:Q87.8 xref: MESH:C537325 xref: OMIM:251250 xref: UMLS:C0796066 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:269528 ! Syndrome with microcephaly as major feature [Term] id: Orphanet:252202 name: Constitutional mismatch repair deficiency syndrome xref: OMIM:276300 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:252190 ! Inherited nervous system cancer-predisposing syndrome property_value: alternative:term "CMMR-D syndrome" xsd:string [Term] id: Orphanet:252206 name: Melanoma and neural system tumor syndrome xref: OMIM:155755 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:252190 ! Inherited nervous system cancer-predisposing syndrome property_value: alternative:term "Melanoma-astrocytoma syndrome" xsd:string [Term] id: Orphanet:252212 name: Malignant triton tumor is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3148 ! Malignant peripheral nerve sheath tumor property_value: alternative:term "Malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation" xsd:string property_value: alternative:term "MPNST with rhabdomyosarcomatous differentiation" xsd:string property_value: alternative:term "MTT" xsd:string [Term] id: Orphanet:2523 name: Microcephaly - brain defect - spasticity - hypernatremia xref: ICD10:Q02 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:269528 ! Syndrome with microcephaly as major feature property_value: alternative:term "Franek-Bocker-Kahlen syndrome" xsd:string [Term] id: Orphanet:2524 name: Pontocerebellar hypoplasia type 2 xref: ICD10:Q04.3 xref: MESH:C548070 xref: OMIM:277470 xref: OMIM:612389 xref: OMIM:612390 xref: OMIM:613811 xref: UMLS:C2932714 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:207012 ! Spinal muscular atrophy associated with central nervous system anomaly relationship: part_of Orphanet:98523 ! Nonsyndromic pontocerebellar hypoplasia property_value: alternative:term "PCH2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty." xsd:string [Term] id: Orphanet:252455 name: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa xref: ENSEMBL:ENSG00000131495 xref: GENATLAS:NDUFA2 xref: HGNC:7685 xref: OMIM:602137 xref: REACTOME:O43678 xref: UNIPROTKB/SWISSPROT:O43678 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:255241 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with leukodystrophy relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency property_value: alternative:term "B8" xsd:string property_value: alternative:term "complex I B8 subunit" xsd:string property_value: alternative:term "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2 (8kD, B8)" xsd:string property_value: symbol "NDUFA2" xsd:string [Term] id: Orphanet:252458 name: prenyl (decaprenyl) diphosphate synthase, subunit 1 xref: ENSEMBL:ENSG00000148459 xref: GENATLAS:PDSS1 xref: HGNC:17759 xref: OMIM:607429 xref: REACTOME:Q5T2R2 xref: UNIPROTKB/SWISSPROT:Q5T2R2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:254898 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Deafness - encephaloneuropathy - obesity - valvulopathy property_value: alternative:term "coenzyme Q1 homolog (yeast)" xsd:string property_value: alternative:term "COQ1" xsd:string property_value: alternative:term "TPRT" xsd:string property_value: alternative:term "TPT" xsd:string property_value: alternative:term "trans-prenyltransferase" xsd:string property_value: symbol "PDSS1" xsd:string [Term] id: Orphanet:2526 name: Microcephaly - lymphedema - chorioretinopathy xref: MESH:C537711 xref: OMIM:152950 xref: UMLS:C1835265 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:269528 ! Syndrome with microcephaly as major feature relationship: part_of Orphanet:71862 ! Retinal dystrophy relationship: part_of Orphanet:89832 ! Syndromic lymphedema property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Microcephaly - lymphedema -chorioretinopathy (MLCRD) is a very rare genetic disorder characterized by overlapping but variable central nervous system, ocular, and lymphatic manifestations." xsd:string [Term] id: Orphanet:2528 name: Microcephaly-microcornea syndrome, Seemanova type xref: ICD10:Q87.8 xref: MESH:C537536 xref: MESH:C537539 xref: UMLS:C0796151 xref: UMLS:C2931524 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183557 ! Genetic developmental defect of the eye relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:269528 ! Syndrome with microcephaly as major feature relationship: part_of Orphanet:98553 ! Developmental defect of the eye property_value: alternative:term "Seemanova-Lesny syndrome" xsd:string [Term] id: Orphanet:253 name: Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia xref: ICD10:Q77.7 xref: MEDDRA:10062920 xref: SNOMED CT:367530008 xref: UMLS:C0038015 is_a: Orphanet:364526 ! Primary bone dysplasia is_a: Orphanet:98628 ! Syndromic corneal dystrophy property_value: alternative:term "SED and SEMD" xsd:string [Term] id: Orphanet:2533 name: Microcephaly - deafness - intellectual deficit xref: ICD10:Q87.8 xref: OMIM:156620 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Kawashima-Tsuji syndrome" xsd:string [Term] id: Orphanet:2535 name: Microcornea - corectopia - macular hypoplasia xref: ICD10:Q15.8 xref: MESH:C537551 xref: UMLS:C2931531 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:98553 ! Developmental defect of the eye [Term] id: Orphanet:2536 name: Microcornea - glaucoma - absent frontal sinuses xref: ICD10:Q15.8 xref: MESH:C537552 xref: OMIM:156700 xref: UMLS:C1834935 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:98553 ! Developmental defect of the eye [Term] id: Orphanet:2538 name: Microgastria - limb reduction defect xref: ICD10:Q87.8 xref: MESH:C537554 xref: OMIM:156810 xref: UMLS:C1834929 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:108965 ! Syndromic gastroduodenal malformation [Term] id: Orphanet:254 name: Spondylometaphyseal dysplasia xref: ICD10:Q77.8 is_a: Orphanet:364526 ! Primary bone dysplasia [Term] id: Orphanet:2542 name: Isolated anophthalmia - microphthalmia xref: ICD10:Q11.0 xref: ICD10:Q11.1 xref: ICD10:Q11.2 xref: OMIM:251600 xref: OMIM:610093 xref: OMIM:611038 xref: OMIM:613094 xref: OMIM:613517 xref: OMIM:613704 xref: OMIM:615113 is_a: Orphanet:108985 ! Nonsyndromic developmental defect of the eye is_a: Orphanet:98555 ! Anophthalmia - microphthalmia relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "Clinical anophthalmia" xsd:string property_value: alternative:term "Isolated pure microphthalmia" xsd:string property_value: alternative:term "Primitive anophthalmia" xsd:string [Term] id: Orphanet:2543 name: Microphthalmia - cataract xref: ICD10:Q15.8 xref: OMIM:156850 xref: OMIM:212550 xref: OMIM:302200 xref: OMIM:610425 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: part_of Orphanet:98641 ! Syndromic cataract property_value: alternative:term "Congenital cataract - microphthalmia" xsd:string [Term] id: Orphanet:254334 name: Autosomal recessive intermediate Charcot-Marie-Tooth disease type B xref: ICD10:G60.0 xref: OMIM:613641 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:268337 ! Autosomal recessive intermediate Charcot-Marie-Tooth disease property_value: alternative:term "RI-CMT type B" xsd:string [Term] id: Orphanet:254343 name: Autosomal recessive spastic ataxia - optic atrophy - dysarthria xref: ICD10:G11.4 xref: OMIM:613672 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:316240 ! Autosomal recessive spastic ataxia relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: alternative:term "Autosomal recessive spastic ataxia type 4" xsd:string property_value: alternative:term "SPAX4" xsd:string [Term] id: Orphanet:254346 name: 19p13.12 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:261983 ! Partial deletion of the short arm of chromosome 19 property_value: alternative:term "Del(19)(p13.12)" xsd:string property_value: alternative:term "Monosomy 19p13.12" xsd:string [Term] id: Orphanet:254351 name: Distal 7q11.23 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:613729 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262056 ! Partial deletion of the long arm of chromosome 7 property_value: alternative:term "Distal del(7)(q11.23)" xsd:string property_value: alternative:term "Distal monosomy 7q11.23" xsd:string [Term] id: Orphanet:254361 name: Autosomal recessive limb-girdle muscular dystrophy type 2Q xref: ICD10:G71.0 xref: OMIM:613723 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102015 ! Autosomal recessive limb-girdle muscular dystrophy relationship: part_of Orphanet:209196 ! Qualitative or quantitative defects of plectin property_value: alternative:term "Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency" xsd:string property_value: alternative:term "LGMD2Q" xsd:string [Term] id: Orphanet:254367 name: Rare lichen planus xref: ICD10:L43 xref: ICD10:L66.1 xref: OMIM:151620 is_a: Orphanet:79353 ! Epidermal disease property_value: alternative:term "Rare LP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides (see these terms). Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis (see these terms)." xsd:string [Term] id: Orphanet:254370 name: Rare cutaneous lichen planus xref: ICD10:L43 xref: ICD10:L66.1 is_a: Orphanet:254367 ! Rare lichen planus property_value: alternative:term "Rare cutaneous LP" xsd:string [Term] id: Orphanet:254373 name: Rare mucosal lichen planus xref: ICD10:L43 is_a: Orphanet:254367 ! Rare lichen planus property_value: alternative:term "Rare mucosal LP" xsd:string [Term] id: Orphanet:254379 name: Linear lichen planus xref: ICD10:L43.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:254370 ! Rare cutaneous lichen planus property_value: alternative:term "Blaschkoid lichen planus" xsd:string property_value: alternative:term "Blaschkoid LP" xsd:string property_value: alternative:term "Linear LP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development." xsd:string [Term] id: Orphanet:254395 name: Actinic lichen planus xref: ICD10:L43.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:254370 ! Rare cutaneous lichen planus property_value: alternative:term "Actinic LP" xsd:string property_value: alternative:term "Lichen planus actinus" xsd:string property_value: alternative:term "Lichen planus subtropicus" xsd:string property_value: alternative:term "Lichen planus tropicus" xsd:string property_value: alternative:term "Lichenoid melanodermatitis" xsd:string property_value: alternative:term "Summertime actinic lichenoid eruption" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus (see this term) characterized by the development of photo-distributed lichenoid lesions." xsd:string [Term] id: Orphanet:254411 name: Annular atrophic lichen planus xref: ICD10:L43.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254370 ! Rare cutaneous lichen planus property_value: alternative:term "Annular atrophic LP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus (see this term) characterized by both annular and atrophic LP (see these terms) features in the same lesion." xsd:string [Term] id: Orphanet:254424 name: Annular lichen planus xref: ICD10:L43.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:254370 ! Rare cutaneous lichen planus property_value: alternative:term "Annular LP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Annular lichen planus (LP) is a rare variant of cutaneous lichen planus (see this term) characterized by the development of annular lesions." xsd:string [Term] id: Orphanet:254449 name: Atrophic lichen planus xref: ICD10:L43.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:254370 ! Rare cutaneous lichen planus property_value: alternative:term "Atrophic LP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus (see this term) characterized by the development of pale papules or plaques with an atrophic center." xsd:string [Term] id: Orphanet:254463 name: Lichen planus pigmentosus xref: ICD10:L43.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:254370 ! Rare cutaneous lichen planus property_value: alternative:term "Lichen planus pigmentosa" xsd:string property_value: alternative:term "Lichen planus pigmentosus inversus" xsd:string property_value: alternative:term "LP pigmentosa" xsd:string property_value: alternative:term "LP pigmentosus" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus (see this term) characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body." xsd:string [Term] id: Orphanet:254478 name: Lichen planus pemphigoides xref: ICD10:L43.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254370 ! Rare cutaneous lichen planus property_value: alternative:term "LP pemphigoides" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid (see these terms)." xsd:string [Term] id: Orphanet:254492 name: Frontal fibrosing alopecia xref: ICD10:L66.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:525 ! Lichen planopilaris property_value: alternative:term "FFA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris (see this term) characterized by symmetrical, progressive, band-like anterior hair loss of the scalp." xsd:string [Term] id: Orphanet:254504 name: Inhalational botulism xref: ICD10:A05.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:1267 ! Botulism property_value: alternative:term "Inhalation botulism" xsd:string [Term] id: Orphanet:254509 name: Iatrogenic botulism xref: ICD10:A05.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:1267 ! Botulism property_value: alternative:term "Inadvertent botulism" xsd:string [Term] id: Orphanet:254516 name: Motor developmental delay due to 14q32.2 paternally expressed gene defect is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:240371 ! Syndromic obesity [Term] id: Orphanet:254519 name: Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect xref: OMIM:608149 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "MCA due to 14q32.2 maternally expressed gene defect" xsd:string [Term] id: Orphanet:254525 name: Paternal 14q32.2 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254516 ! Motor developmental delay due to 14q32.2 paternally expressed gene defect relationship: part_of Orphanet:262110 ! Partial deletion of the long arm of chromosome 14 property_value: alternative:term "Paternal del(14)(q32.2)" xsd:string property_value: alternative:term "Paternal monosomy 14q32.2" xsd:string [Term] id: Orphanet:254528 name: Maternal 14q32.2 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254519 ! Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect property_value: alternative:term "Maternal del(14)(q32.2)" xsd:string property_value: alternative:term "Maternal monosomy 14q32.2" xsd:string [Term] id: Orphanet:254531 name: Paternal 14q32.2 hypomethylation syndrome is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254516 ! Motor developmental delay due to 14q32.2 paternally expressed gene defect [Term] id: Orphanet:254534 name: Maternal 14q32.2 hypermethylation syndrome xref: ICD10:Q99.8 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254519 ! Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect [Term] id: Orphanet:254685 name: Gestational trophoblastic disease is_a: Orphanet:98063 ! Rare gynecological tumor [Term] id: Orphanet:254688 name: Complete hydatidiform mole xref: ICD10:O01.0 xref: OMIM:231090 xref: OMIM:614293 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:99927 ! Hydatidiform mole property_value: alternative:term "Complete molar pregnancy" xsd:string [Term] id: Orphanet:254693 name: Partial hydatidiform mole xref: ICD10:O01.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:99927 ! Hydatidiform mole property_value: alternative:term "Incomplete hydatidiform mole" xsd:string property_value: alternative:term "Incomplete molar pregnancy" xsd:string property_value: alternative:term "Partial molar pregnancy" xsd:string [Term] id: Orphanet:254698 name: Epithelioid trophoblastic tumor xref: ICD10:D39.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:59305 ! Gestational trophoblastic neoplasm [Term] id: Orphanet:254704 name: Genetic hyperferritinemia without iron overload is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:254707 name: Faisalabad histiocytosis xref: ICD10:D76.3 xref: OMIM:602782 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:240266 ! Systemic non-Langerhans cell histiocytosis relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "FHC" xsd:string [Term] id: Orphanet:254712 name: Familial sinus histiocytosis with massive lymphadenopathy xref: ICD10:D76.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:240266 ! Systemic non-Langerhans cell histiocytosis property_value: alternative:term "Familial Rosaï-Dorfman disease" xsd:string property_value: alternative:term "Familial SHML" xsd:string [Term] id: Orphanet:254723 name: Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome xref: OMIM:602782 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181371 ! Rare insulin-dependent diabetes mellitus relationship: part_of Orphanet:183625 ! Rare genetic diabetes mellitus relationship: part_of Orphanet:79365 ! Hypertrichosis property_value: alternative:term "PHID" xsd:string [Term] id: Orphanet:254746 name: Pyruvate metabolism disorder xref: ICD10:E74.4 is_a: Orphanet:79200 ! Disorder of energy metabolism [Term] id: Orphanet:254749 name: Tricarboxylic acid cycle disorder xref: ICD10:E88.8 is_a: Orphanet:79200 ! Disorder of energy metabolism property_value: alternative:term "Citric acid cycle disorder" xsd:string property_value: alternative:term "Krebs cycle disorder" xsd:string property_value: alternative:term "TCA cycle disorder" xsd:string [Term] id: Orphanet:254758 name: Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies is_a: Orphanet:223713 ! Mitochondrial oxidative phosphorylation disorder property_value: alternative:term "Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies" xsd:string property_value: alternative:term "OXPHOS disease due to mitochondrial DNA anomalies" xsd:string property_value: alternative:term "OXPHOS disease due to mtDNA anomalies" xsd:string [Term] id: Orphanet:254767 name: Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA is_a: Orphanet:254758 ! Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies property_value: alternative:term "Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA" xsd:string property_value: alternative:term "OXPHOS disease due to a large-scale single deletion of mitochondrial DNA" xsd:string property_value: alternative:term "OXPHOS disease due to a large-scale single deletion of mtDNA" xsd:string [Term] id: Orphanet:254776 name: Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA is_a: Orphanet:254758 ! Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies property_value: alternative:term "Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA" xsd:string property_value: alternative:term "OXPHOS disease due to a point mutation of mitochondrial DNA" xsd:string property_value: alternative:term "OXPHOS disease due to a point mutation of mtDNA" xsd:string [Term] id: Orphanet:254788 name: Maternally-inherited mitochondrial myopathy xref: ICD10:G71.3 is_a: Orphanet:254776 ! Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA [Term] id: Orphanet:254793 name: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA is_a: Orphanet:254758 ! Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies property_value: alternative:term "Mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA" xsd:string property_value: alternative:term "OXPHOS disease due to a duplication of mitochondrial DNA" xsd:string property_value: alternative:term "OXPHOS disease due to a duplication of mtDNA" xsd:string [Term] id: Orphanet:254803 name: Mitochondrial DNA depletion syndrome, encephalomyopathic form xref: OMIM:612073 xref: OMIM:612075 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:35698 ! Mitochondrial DNA depletion syndrome relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "mtDNA depletion syndrome, encephalomyopathic form" xsd:string [Term] id: Orphanet:254807 name: Multiple mitochondrial DNA deletion syndrome is_a: Orphanet:352456 ! Mitochondrial DNA maintenance syndrome property_value: alternative:term "Multiple mtDNA deletion syndrome" xsd:string [Term] id: Orphanet:254818 name: Ataxia neuropathy spectrum is_a: Orphanet:254807 ! Multiple mitochondrial DNA deletion syndrome [Term] id: Orphanet:254822 name: Mitochondrial oxidative phosphorylation disorder with no known mechanism is_a: Orphanet:2443 ! Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies property_value: alternative:term "OXPHOS disease with no known mechanism" xsd:string [Term] id: Orphanet:254827 name: Mitochondrial membrane transport disorder is_a: Orphanet:68380 ! Mitochondrial disease [Term] id: Orphanet:254830 name: Mitochondrial substrate carrier disorder is_a: Orphanet:254827 ! Mitochondrial membrane transport disorder [Term] id: Orphanet:254834 name: Mitochondrial protein import disorder is_a: Orphanet:254827 ! Mitochondrial membrane transport disorder [Term] id: Orphanet:254837 name: Unspecified mitochondrial disorder is_a: Orphanet:68380 ! Mitochondrial disease [Term] id: Orphanet:254843 name: Exercise intolerance with lactic acidosis is_a: Orphanet:309136 ! Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes [Term] id: Orphanet:254846 name: Isolated oxidative phosphorylation complex disorder is_a: Orphanet:223713 ! Mitochondrial oxidative phosphorylation disorder property_value: alternative:term "Isolated respiratory chain complex disorder" xsd:string [Term] id: Orphanet:254851 name: Maternally-inherited mitochondrial dystonia is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:254776 ! Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity." xsd:string [Term] id: Orphanet:254854 name: Pure mitochondrial myopathy xref: ICD10:G71.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: part_of Orphanet:254788 ! Maternally-inherited mitochondrial myopathy [Term] id: Orphanet:254857 name: Lethal infantile mitochondrial myopathy xref: ICD10:G71.3 xref: OMIM:551000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:254788 ! Maternally-inherited mitochondrial myopathy property_value: alternative:term "Lethal infantile mitochondrial disease" xsd:string property_value: alternative:term "LIMD" xsd:string [Term] id: Orphanet:254864 name: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency xref: ICD10:G71.3 xref: OMIM:500009 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:254788 ! Maternally-inherited mitochondrial myopathy property_value: alternative:term "Benign COX deficiency" xsd:string property_value: alternative:term "Infantile reversible cytochrome c oxidase deficiency myopathy" xsd:string property_value: alternative:term "Mitochondrial myopathy with reversible complex IV deficiency" xsd:string property_value: alternative:term "Mitochondrial myopathy with reversible COX deficiency" xsd:string property_value: alternative:term "Reversible infantile cytochrome c oxidase deficiency" xsd:string property_value: alternative:term "Reversible infantile respiratory chain deficiency" xsd:string [Term] id: Orphanet:254871 name: Mitochondrial DNA depletion syndrome, hepatocerebral form is_a: Orphanet:35698 ! Mitochondrial DNA depletion syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy property_value: alternative:term "mtDNA depletion syndrome, hepatocerebral form" xsd:string [Term] id: Orphanet:254875 name: Mitochondrial DNA depletion syndrome, myopathic form xref: ICD10:G71.3 xref: OMIM:609560 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:35698 ! Mitochondrial DNA depletion syndrome relationship: part_of Orphanet:79193 ! Disorder of pyrimidine metabolism property_value: alternative:term "mtDNA depletion syndrome, myopathic form" xsd:string [Term] id: Orphanet:254881 name: Spinocerebellar ataxia with epilepsy xref: OMIM:607459 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: part_of Orphanet:254818 ! Ataxia neuropathy spectrum property_value: alternative:term "Mitochondrial spinocerebellar ataxia with epilepsy" xsd:string property_value: alternative:term "MSCAE" xsd:string property_value: alternative:term "SCAE" xsd:string [Term] id: Orphanet:254886 name: Autosomal recessive progressive external ophthalmoplegia xref: ICD10:H49.4 xref: OMIM:258450 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:254807 ! Multiple mitochondrial DNA deletion syndrome property_value: alternative:term "arPEO" xsd:string [Term] id: Orphanet:254892 name: Autosomal dominant progressive external ophthalmoplegia xref: ICD10:H49.4 xref: OMIM:157640 xref: OMIM:609283 xref: OMIM:609286 xref: OMIM:610131 xref: OMIM:613077 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:254807 ! Multiple mitochondrial DNA deletion syndrome property_value: alternative:term "adPEO" xsd:string [Term] id: Orphanet:254898 name: Deafness - encephaloneuropathy - obesity - valvulopathy xref: ICD10:E88.8 xref: OMIM:614651 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:35656 ! Coenzyme Q10 deficiency property_value: alternative:term "Hearing loss - encephaloneuropathy - obesity - valvulopathy" xsd:string [Term] id: Orphanet:2549 name: Oculoauriculovertebral spectrum with radial defects xref: ICD10:Q75.8 xref: OMIM:141400 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:93453 ! Dysostosis with predominant craniofacial involvement property_value: alternative:term "Hemifacial microsomia - radial defects" xsd:string property_value: alternative:term "Moeschler-Clarren syndrome" xsd:string [Term] id: Orphanet:254902 name: Renal tubulopathy - encephalopathy - liver failure xref: OMIM:124000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:309136 ! Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders." xsd:string [Term] id: Orphanet:254905 name: Isolated cytochrome C oxidase deficiency xref: OMIM:220110 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:254846 ! Isolated oxidative phosphorylation complex disorder property_value: alternative:term "Isolated COX deficiency" xsd:string property_value: alternative:term "Isolated mitochondrial respiratory chain complex IV deficiency" xsd:string [Term] id: Orphanet:254913 name: Isolated ATP synthase deficiency xref: OMIM:604273 xref: OMIM:614053 xref: OMIM:615228 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:254846 ! Isolated oxidative phosphorylation complex disorder property_value: alternative:term "Isolated mitochondrial respiratory chain complex V deficiency" xsd:string [Term] id: Orphanet:254920 name: Combined oxidative phosphorylation defect type 2 xref: ICD10:E88.8 xref: OMIM:610498 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: alternative:term "COXPD2" xsd:string [Term] id: Orphanet:254925 name: Combined oxidative phosphorylation defect type 4 xref: ICD10:E88.8 xref: OMIM:610678 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: alternative:term "COXPD4" xsd:string [Term] id: Orphanet:254930 name: Combined oxidative phosphorylation defect type 7 xref: OMIM:613559 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: alternative:term "COXPD7" xsd:string [Term] id: Orphanet:255 name: Dopa-responsive dystonia xref: ICD10:G24.8 xref: MESH:C538007 xref: UMLS:C1851920 is_a: Orphanet:68385 ! Neurometabolic disease is_a: Orphanet:98203 ! Combined dystonia relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 property_value: alternative:term "Hereditary progressive dystonia with diurnal fluctuation" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency (see these terms)." xsd:string [Term] id: Orphanet:2551 name: Microspherophakia - metaphyseal dysplasia xref: OMIM:157151 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:98652 ! Lens size anomaly property_value: alternative:term "Verloes-Van Maldergem-de Marneffe syndrome" xsd:string [Term] id: Orphanet:255117 name: Autosomal dominant optic atrophy and late-onset deafness is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:254822 ! Mitochondrial oxidative phosphorylation disorder with no known mechanism [Term] id: Orphanet:255132 name: Adult-onset autosomal recessive sideroblastic anemia xref: ICD10:D64.0 xref: OMIM:205950 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:254830 ! Mitochondrial substrate carrier disorder relationship: part_of Orphanet:98362 ! Constitutional sideroblastic anemia property_value: alternative:term "GLRX5-related sideroblastic anemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition ") described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes." xsd:string [Term] id: Orphanet:255138 name: Pyruvate dehydrogenase E1-beta deficiency xref: ICD10:E74.4 xref: OMIM:614111 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:765 ! Pyruvate dehydrogenase deficiency property_value: alternative:term "PDHBD" xsd:string property_value: alternative:term "Pyruvate dehydrogenase complex E1 component subunit beta deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia." xsd:string [Term] id: Orphanet:255182 name: Pyruvate dehydrogenase E3-binding protein deficiency xref: ICD10:E74.4 xref: OMIM:245349 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:765 ! Pyruvate dehydrogenase deficiency property_value: alternative:term "2-oxoglutarate complex deficiency" xsd:string property_value: alternative:term "Branched chain alpha-ketoacid dehydrogenase complex deficiency" xsd:string property_value: alternative:term "Diaphorase deficiency" xsd:string property_value: alternative:term "Dihydrolipoyl dehydrogenase deficiency" xsd:string property_value: alternative:term "Glycine cleavage system L protein deficiency" xsd:string property_value: alternative:term "Lipoamide dehydrogenase deficiency" xsd:string property_value: alternative:term "Pyruvate dehydrogenase complex component E3 deficiency" xsd:string property_value: alternative:term "Pyruvate dehydrogenase protein X component deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction." xsd:string [Term] id: Orphanet:255199 name: Sporadic Leigh syndrome xref: ICD10:G31.8 xref: OMIM:256000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:254776 ! Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA property_value: alternative:term "Sporadic infantile subacute necrotizing encephalopathy" xsd:string property_value: alternative:term "Sporadic Leigh disease" xsd:string [Term] id: Orphanet:2552 name: Microsporidiosis xref: ICD10:B60.8 xref: MEDDRA:10053982 xref: MESH:D016881 xref: SNOMED CT:61842000 xref: UMLS:C0085407 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163588 ! Rare parasitic disease [Term] id: Orphanet:255210 name: Maternally-inherited Leigh syndrome xref: ICD10:G31.8 xref: OMIM:161700 xref: OMIM:256000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:254776 ! Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA property_value: alternative:term "Maternally-inherited infantile subacute necrotizing encephalopathy" xsd:string property_value: alternative:term "Maternally-inherited Leigh disease" xsd:string property_value: alternative:term "MILS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA." xsd:string [Term] id: Orphanet:255225 name: Maternally-inherited mitochondrial hypertrophic cardiomyopathy xref: ICD10:I42.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:217587 ! Mitochondrial disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:254776 ! Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA [Term] id: Orphanet:255229 name: Navajo neurohepatopathy xref: OMIM:256810 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:254871 ! Mitochondrial DNA depletion syndrome, hepatocerebral form property_value: alternative:term "Navajo neuropathy" xsd:string [Term] id: Orphanet:255235 name: Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy xref: OMIM:612075 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:254803 ! Mitochondrial DNA depletion syndrome, encephalomyopathic form property_value: alternative:term "mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy" xsd:string [Term] id: Orphanet:255241 name: Leigh syndrome with leukodystrophy xref: ICD10:G31.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:506 ! Leigh syndrome property_value: alternative:term "Infantile subacute necrotizing encephalopathy with leukodystrophy" xsd:string property_value: alternative:term "Leigh disease with leukodystrophy" xsd:string [Term] id: Orphanet:255249 name: Leigh syndrome with nephrotic syndrome xref: ICD10:G31.8 xref: OMIM:607426 xref: OMIM:614652 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:506 ! Leigh syndrome property_value: alternative:term "Infantile subacute necrotizing encephalopathy with nephrotic syndrome" xsd:string property_value: alternative:term "Leigh disease with nephrotic syndrome" xsd:string [Term] id: Orphanet:2554 name: Ear-patella-short stature syndrome xref: ICD10:Q87.1 xref: MESH:C538012 xref: OMIM:224690 xref: OMIM:613800 xref: OMIM:613803 xref: OMIM:613804 xref: OMIM:613805 xref: UMLS:C1868684 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:324761 ! Microcephalic primordial dwarfism relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:93455 ! Patellar dysostosis property_value: alternative:term "Meier-Gorlin syndrome" xsd:string [Term] id: Orphanet:2556 name: Microphthalmia with linear skin defects syndrome xref: ICD10:Q11.2 xref: OMIM:300887 xref: OMIM:309801 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:183481 ! Genetic mixed dermis disorder relationship: part_of Orphanet:202948 ! Syndromic microphthalmia relationship: part_of Orphanet:79380 ! Mixed dermis disorder relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature property_value: alternative:term "MCOPS7" xsd:string property_value: alternative:term "Microphthalmia - dermal aplasia - sclerocornea" xsd:string property_value: alternative:term "MIDAS syndrome" xsd:string property_value: alternative:term "MLS syndrome" xsd:string property_value: alternative:term "Syndromic microphthalmia type 7" xsd:string [Term] id: Orphanet:2557 name: Mietens syndrome xref: OMIM:249600 xref: SNOMED CT:40291001 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:98628 ! Syndromic corneal dystrophy property_value: alternative:term "Intellectual deficit, Mietens-Weber type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." xsd:string [Term] id: Orphanet:2558 name: Mikati-Najjar-Sahli syndrome xref: ICD10:E22.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181441 ! Non-hypogonadotropic hypogonadism property_value: alternative:term "Microcephaly - hypergonadotropic hypogonadism - short stature" xsd:string [Term] id: Orphanet:256 name: Early-onset generalized limb-onset dystonia xref: ICD10:G24.1 xref: OMIM:128100 xref: OMIM:602554 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:376724 ! Generalized isolated dystonia property_value: alternative:term "Dystonia musculorum deformans" xsd:string property_value: alternative:term "DYT1" xsd:string property_value: alternative:term "Early-onset generalized torsion dystonia" xsd:string property_value: alternative:term "Early-onset primary dystonia" xsd:string property_value: alternative:term "Early-onset torsion dystonia" xsd:string property_value: alternative:term "EOTD" xsd:string property_value: alternative:term "Idiopathic dystonia" xsd:string property_value: alternative:term "Idiopathic torsion dystonia" xsd:string property_value: alternative:term "Oppenheim dystonia" xsd:string [Term] id: Orphanet:2560 name: Möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181387 ! Syndrome with hypogonadotropic hypogonadism [Term] id: Orphanet:2561 name: Ackerman syndrome xref: ICD10:K00.2 xref: MESH:C538170 xref: OMIM:200970 xref: UMLS:C1860167 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Pyramidal molar - glaucoma - upper abnormal lip" xsd:string [Term] id: Orphanet:2563 name: MOMO syndrome xref: ICD10:Q87.3 xref: OMIM:157980 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:240371 ! Syndromic obesity property_value: alternative:term "Macrocephaly-obesity-mental disability-ocular abnormalities syndrome" xsd:string property_value: alternative:term "Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome" xsd:string [Term] id: Orphanet:2564 name: Tetramelic monodactyly xref: ICD10:Q73.8 xref: OMIM:187510 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects property_value: alternative:term "Sommer-Hines syndrome" xsd:string [Term] id: Orphanet:2565 name: Mononen-Karnes-Senac syndrome xref: MESH:C535914 xref: OMIM:301940 xref: UMLS:C2931060 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: alternative:term "Skeletal dysplasia - brachydactyly" xsd:string [Term] id: Orphanet:2566 name: Susceptibility to chronic infection by Epstein-Barr virus xref: OMIM:226990 is_a: Orphanet:377793 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! particular clinical situation in a disease or syndrome relationship: part_of Orphanet:163585 ! Rare viral disease [Term] id: Orphanet:2569 name: Moore-Federman syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_969 with label: Acromicric dysplasia" xsd:string [Term] id: Orphanet:257 name: Epidermolysis bullosa simplex with muscular dystrophy xref: ICD10:G71.0 xref: ICD10:Q81.0 xref: OMIM:226670 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102015 ! Autosomal recessive limb-girdle muscular dystrophy relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:158665 ! Basal epidermolysis bullosa simplex relationship: part_of Orphanet:209196 ! Qualitative or quantitative defects of plectin relationship: part_of Orphanet:263676 ! Hereditary epidermolysis bullosa associated with ocular features property_value: alternative:term "EBS-MD" xsd:string property_value: alternative:term "Limb girdle dystrophy with epidermolysis bullosa simplex" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy." xsd:string [Term] id: Orphanet:2570 name: Morse-Rawnsley-Sargent syndrome xref: ICD10:Q04.2 xref: OMIM:306990 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature [Term] id: Orphanet:2571 name: X-linked immunoneurologic disorder xref: ICD10:D82.8 xref: OMIM:300076 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:331232 ! Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells property_value: alternative:term "Woods-Black-Norbury syndrome" xsd:string [Term] id: Orphanet:2572 name: Spastic ataxia - corneal dystrophy xref: ICD10:G11.8 xref: OMIM:271320 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:316240 ! Autosomal recessive spastic ataxia relationship: part_of Orphanet:98628 ! Syndromic corneal dystrophy property_value: alternative:term "Bedouin spastic ataxia syndrome" xsd:string property_value: alternative:term "Mousa-Al Din-Al Nassar syndrome" xsd:string property_value: alternative:term "Spastic ataxia - ocular anomalies" xsd:string [Term] id: Orphanet:2573 name: Moyamoya disease xref: ICD10:I67.5 xref: MEDDRA:10028047 xref: MESH:C536991 xref: MESH:D009072 xref: OMIM:252350 xref: OMIM:607151 xref: OMIM:608796 xref: OMIM:614042 xref: SNOMED CT:69116000 xref: SNOMED CT:89142007 xref: UMLS:C0026654 xref: UMLS:C2931384 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:183503 ! Genetic central nervous system and retinal vascular disease relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease [Term] id: Orphanet:2574 name: Moynahan syndrome xref: OMIM:203600 xref: SNOMED CT:45167004 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:166463 ! Epileptic syndrome relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin property_value: alternative:term "Alopecia-epilepsy-oligophrenia syndrome, Moynahan type" xsd:string [Term] id: Orphanet:2575 name: Cystic fibrosis - gastritis - megaloblastic anemia xref: OMIM:219721 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:101936 ! Rare gastro-esophageal disease relationship: part_of Orphanet:165658 ! Genetic gastro-esophageal disease property_value: alternative:term "Lubani-Al Saleh-Teebi syndrome" xsd:string [Term] id: Orphanet:2576 name: MULIBREY nanism xref: ICD10:Q87.1 xref: MESH:C538604 xref: MESH:D050336 xref: OMIM:253250 xref: SNOMED CT:81604003 xref: UMLS:C0524582 xref: UMLS:C2931895 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139021 ! Malformation syndrome with short stature relationship: part_of Orphanet:183570 ! Genetic malformation syndrome with short stature property_value: alternative:term "MULIBREY dwarfism" xsd:string property_value: alternative:term "Muscle-liver-brain-eye nanism" xsd:string property_value: alternative:term "Perheentupa syndrome" xsd:string property_value: alternative:term "Pericardial constriction - growth failure" xsd:string [Term] id: Orphanet:2578 name: MURCS association xref: ICD10:Q87.8 xref: OMIM:601076 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:3109 ! Mayer-Rokitansky-Küster-Hauser syndrome property_value: alternative:term "Klippel-Feil deformity - conductive deafness - absent vagina" xsd:string property_value: alternative:term "Mayer-Rokitansky-Küster-Hauser syndrome type 2" xsd:string property_value: alternative:term "MRKH syndrome type 2" xsd:string property_value: alternative:term "Mullerian aplasia - renal aplasia - cervicothoracic somite dysplasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "MURCS association, which stands for Mullerian duct aplasia (MU), congenital renal dysplasia (R), cervical somite anomalies (CS), is the atypical (or type II) form of Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome, see this term) characterized by utero-vaginal atresia in otherwise normal females as well associated kidney and skeletal abnormalities and hearing problems." xsd:string [Term] id: Orphanet:2579 name: Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus xref: MESH:C538193 xref: OMIM:158500 xref: SNOMED CT:237611007 xref: UMLS:C0342281 xref: UMLS:C2931765 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183518 ! Rare hereditary ataxia relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa property_value: alternative:term "Furukawa-Takagi-Nakao syndrome" xsd:string [Term] id: Orphanet:258 name: Congenital muscular dystrophy type 1A xref: ICD10:G71.2 xref: OMIM:607855 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:207094 ! Qualitative or quantitative defects of merosin relationship: part_of Orphanet:97242 ! Congenital muscular dystrophy property_value: alternative:term "CMD1A" xsd:string property_value: alternative:term "Congenital muscular dystrophy due to laminin alpha2 deficiency" xsd:string property_value: alternative:term "MDC1A" xsd:string property_value: alternative:term "Merosin-negative congenital muscular dystrophy" xsd:string [Term] id: Orphanet:2580 name: Shoulder and girdle defects - familial intellectual deficit is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:2582 name: Myalgia-eosinophilia syndrome associated with tryptophan xref: ICD10:M35.8 xref: MESH:D016603 xref: SNOMED CT:403735006 xref: UMLS:C1275050 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:182222 ! Rare systemic disease [Term] id: Orphanet:2583 name: Mycetoma xref: ICD10:B47 xref: MEDDRA:10028427 xref: MESH:D008271 xref: SNOMED CT:410039003 xref: SNOMED CT:95881004 xref: UMLS:C0024449 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease relationship: part_of Orphanet:163591 ! Rare mycosis property_value: alternative:term "Madura foot" xsd:string [Term] id: Orphanet:2584 name: Classical mycosis fungoides xref: ICD10:C84.0 xref: OMIM:254400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:178566 ! Mycosis fungoides and variants property_value: alternative:term "Mycosis fungoides, Alibert-Bazin type" xsd:string [Term] id: Orphanet:2585 name: Ataxia - pancytopenia xref: OMIM:159550 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102000 ! Medullar disease relationship: part_of Orphanet:183515 ! Rare genetic medullar disease property_value: alternative:term "Myelocerebellar disorder" xsd:string [Term] id: Orphanet:258532 name: methionine sulfoxide reductase B3 xref: ENSEMBL:ENSG00000174099 xref: GENATLAS:MSRB3 xref: HGNC:27375 xref: OMIM:613719 xref: UNIPROTKB/SWISSPROT:Q8IXL7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "deafness, autosomal recessive 74" xsd:string property_value: alternative:term "DFNB74" xsd:string property_value: alternative:term "DKFZp686C1178" xsd:string property_value: alternative:term "FLJ36866" xsd:string property_value: symbol "MSRB3" xsd:string [Term] id: Orphanet:258534 name: phospholipase C, beta 1 (phosphoinositide-specific) xref: ENSEMBL:ENSG00000182621 xref: GENATLAS:PLCB1 xref: HGNC:15917 xref: OMIM:607120 xref: REACTOME:Q9NQ66 xref: UNIPROTKB/SWISSPROT:Q9NQ66 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1934 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early infantile epileptic encephalopathy relationship: Orphanet:317343 Orphanet:293181 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Malignant migrating partial seizures of infancy property_value: alternative:term "KIAA0581" xsd:string property_value: alternative:term "Phospholipase C, beta 1" xsd:string property_value: alternative:term "PLC-I" xsd:string property_value: alternative:term "PLC154" xsd:string property_value: symbol "PLCB1" xsd:string [Term] id: Orphanet:258542 name: kelch repeat and BTB (POZ) domain containing 13 xref: ENSEMBL:ENSG00000234438 xref: GENATLAS:KBTBD13 xref: HGNC:37227 xref: OMIM:613727 xref: UNIPROTKB/SWISSPROT:C9JR72 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171439 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Childhood-onset nemaline myopathy property_value: alternative:term "hCG_1645727" xsd:string property_value: alternative:term "NEM6" xsd:string property_value: alternative:term "nemaline myopathy type 6" xsd:string property_value: symbol "KBTBD13" xsd:string [Term] id: Orphanet:258610 name: proteasome (prosome, macropain) subunit, beta type, 8 xref: ENSEMBL:ENSG00000204264 xref: GENATLAS:PSMB8 xref: HGNC:9545 xref: IUPHAR:2408 xref: OMIM:177046 xref: REACTOME:P28062 xref: UNIPROTKB/SWISSPROT:P28062 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2615 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nakajo-Nishimura syndrome relationship: Orphanet:317343 Orphanet:324999 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! JMP syndrome relationship: Orphanet:317343 Orphanet:325004 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CANDLE syndrome property_value: alternative:term "beta5i" xsd:string property_value: alternative:term "D6S216E" xsd:string property_value: alternative:term "large multifunctional peptidase 7" xsd:string property_value: alternative:term "LMP7" xsd:string property_value: alternative:term "proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)" xsd:string property_value: alternative:term "Proteasome subunit, beta type, 8" xsd:string property_value: alternative:term "PSMB5i" xsd:string property_value: alternative:term "RING10" xsd:string property_value: symbol "PSMB8" xsd:string [Term] id: Orphanet:258621 name: NIMA-related kinase 1 xref: ENSEMBL:ENSG00000137601 xref: GENATLAS:NEK1 xref: HGNC:7744 xref: IUPHAR:2114 xref: OMIM:604588 xref: UNIPROTKB/SWISSPROT:Q96PY6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93269 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Short rib-polydactyly syndrome, Majewski type property_value: alternative:term "KIAA1901" xsd:string property_value: alternative:term "NIMA (never in mitosis gene a)-related kinase 1" xsd:string property_value: alternative:term "NY-REN-55" xsd:string property_value: symbol "NEK1" xsd:string [Term] id: Orphanet:258625 name: aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 xref: ENSEMBL:ENSG00000164022 xref: GENATLAS:AIMP1 xref: HGNC:10648 xref: OMIM:603605 xref: REACTOME:Q12904 xref: UNIPROTKB/SWISSPROT:Q12904 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280293 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pelizaeus-Merzbacher-like due to AIMP1 mutation property_value: alternative:term "ARS-interacting multifunctional protein 1" xsd:string property_value: alternative:term "EMAP II" xsd:string property_value: alternative:term "EMAP-2" xsd:string property_value: alternative:term "EMAPII" xsd:string property_value: alternative:term "p43" xsd:string property_value: alternative:term "SCYE1" xsd:string property_value: alternative:term "small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)" xsd:string property_value: symbol "AIMP1" xsd:string [Term] id: Orphanet:258631 name: SPARC related modular calcium binding 1 xref: ENSEMBL:ENSG00000198732 xref: GENATLAS:SMOC1 xref: HGNC:20318 xref: OMIM:608488 xref: UNIPROTKB/SWISSPROT:Q9H4F8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1106 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Microphthalmia with limb anomalies property_value: symbol "SMOC1" xsd:string [Term] id: Orphanet:258633 name: anoctamin 6 xref: ENSEMBL:ENSG00000177119 xref: GENATLAS:ANO6 xref: HGNC:25240 xref: OMIM:608663 xref: REACTOME:Q4KMQ2 xref: UNIPROTKB/SWISSPROT:Q4KMQ2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:806 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Scott syndrome property_value: alternative:term "DKFZp313M0720" xsd:string property_value: alternative:term "TMEM16F" xsd:string property_value: alternative:term "transmembrane protein 16F" xsd:string property_value: symbol "ANO6" xsd:string [Term] id: Orphanet:2587 name: Myeloperoxidase deficiency xref: ICD10:E80.3 xref: OMIM:254600 xref: SNOMED CT:129644003 xref: SNOMED CT:234433009 xref: UMLS:C0398595 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:183681 ! Functional neutrophil defect property_value: alternative:term "MPO deficiency" xsd:string [Term] id: Orphanet:2588 name: Myhre syndrome xref: ICD10:Q87.8 xref: OMIM:139210 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Facial dysmorphism - intellectual deficit - short stature - hearing loss" xsd:string [Term] id: Orphanet:2589 name: Myoclonus - cerebellar ataxia - deafness xref: ICD10:G11.1 xref: OMIM:159800 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183518 ! Rare hereditary ataxia relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:2590 name: Hereditary myoclonus - progressive distal muscular atrophy xref: ICD10:G25.3 xref: OMIM:159950 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:306762 ! Progressive epilepsy and/or ataxia with myoclonus as a major feature property_value: alternative:term "Jankovic-Rivera syndrome" xsd:string [Term] id: Orphanet:2591 name: Infantile myofibromatosis xref: ICD10:D21 xref: OMIM:228550 xref: OMIM:615293 xref: SNOMED CT:254146000 xref: UMLS:C0432284 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:206982 ! Muscular tumor relationship: part_of Orphanet:271832 ! Genetic soft tissue tumor relationship: part_of Orphanet:71209 ! Rare soft tissue tumor relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of tumors in the soft tissue and striated muscles, and in exceptional cases, visceral organs with bones involvement leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts." xsd:string [Term] id: Orphanet:2593 name: Tubular aggregate myopathy xref: ICD10:G71.2 xref: OMIM:160565 xref: SNOMED CT:240087000 xref: UMLS:C0410207 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:97245 ! Congenital myopathy [Term] id: Orphanet:259354 name: SLX4 structure-specific endonuclease subunit xref: ENSEMBL:ENSG00000188827 xref: GENATLAS:BTBD12 xref: HGNC:23845 xref: OMIM:613278 xref: UNIPROTKB/SWISSPROT:Q8IY92 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:84 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fanconi anemia property_value: alternative:term "BTB (POZ) domain containing 12" xsd:string property_value: alternative:term "BTBD12" xsd:string property_value: alternative:term "Fanconi anemia, complementation group P" xsd:string property_value: alternative:term "FANCP" xsd:string property_value: alternative:term "KIAA1784" xsd:string property_value: alternative:term "KIAA1987" xsd:string property_value: alternative:term "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)" xsd:string property_value: symbol "SLX4" xsd:string [Term] id: Orphanet:259358 name: acid phosphatase 5, tartrate resistant xref: ENSEMBL:ENSG00000102575 xref: GENATLAS:ACP5 xref: HGNC:124 xref: OMIM:171640 xref: REACTOME:P13686 xref: UNIPROTKB/SWISSPROT:P13686 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1855 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spondyloenchondrodysplasia property_value: alternative:term "tartrate-resistant acid phosphatase" xsd:string property_value: alternative:term "TRAP" xsd:string property_value: symbol "ACP5" xsd:string [Term] id: Orphanet:259361 name: dehydrodolichyl diphosphate synthase xref: ENSEMBL:ENSG00000117682 xref: GENATLAS:DHDDS xref: HGNC:20603 xref: OMIM:608172 xref: REACTOME:Q86SQ9 xref: UNIPROTKB/SWISSPROT:Q86SQ9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "DS" xsd:string property_value: alternative:term "FLJ13102" xsd:string property_value: alternative:term "HDS" xsd:string property_value: symbol "DHDDS" xsd:string [Term] id: Orphanet:259368 name: glutamine--fructose-6-phosphate transaminase 1 xref: ENSEMBL:ENSG00000198380 xref: GENATLAS:GFPT1 xref: HGNC:4241 xref: OMIM:138292 xref: REACTOME:Q06210 xref: UNIPROTKB/SWISSPROT:Q06210 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:353327 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital myasthenic syndromes with glycosylation defect property_value: alternative:term "GFA" xsd:string property_value: alternative:term "GFAT" xsd:string property_value: alternative:term "GFAT1" xsd:string property_value: alternative:term "GFPT" xsd:string property_value: alternative:term "glutamine-fructose-6-phosphate transaminase 1" xsd:string property_value: symbol "GFPT1" xsd:string [Term] id: Orphanet:259373 name: immunoglobulin-like domain containing receptor 1 xref: ENSEMBL:ENSG00000145103 xref: GENATLAS:ILDR1 xref: HGNC:28741 xref: OMIM:609739 xref: UNIPROTKB/SWISSPROT:Q86SU0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "deafness, autosomal recessive 42" xsd:string property_value: alternative:term "DFNB42" xsd:string property_value: alternative:term "MGC50831" xsd:string property_value: symbol "ILDR1" xsd:string [Term] id: Orphanet:2596 name: Myopathy and diabetes mellitus xref: ICD10:E10 xref: ICD10:G71.3 xref: OMIM:500002 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:181381 ! Other rare diabetes mellitus relationship: part_of Orphanet:183625 ! Rare genetic diabetes mellitus relationship: part_of Orphanet:206953 ! Muscular lipidosis relationship: part_of Orphanet:254788 ! Maternally-inherited mitochondrial myopathy [Term] id: Orphanet:25968 name: Benign occipital epilepsy xref: ICD10:G40.0 xref: OMIM:132090 xref: UMLS:C1851549 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98259 ! Childhood-onset epilepsy syndrome [Term] id: Orphanet:2597 name: Mitochondrial myopathy - lactic acidosis - deafness xref: ICD10:G71.3 xref: MESH:C537476 xref: OMIM:251950 xref: UMLS:C1855033 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:206966 ! Mitochondrial myopathy relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Mitochondrial myopathy - lactic acidosis - hearing loss" xsd:string [Term] id: Orphanet:2598 name: Mitochondrial myopathy and sideroblastic anemia xref: ICD10:G71.3 xref: MESH:C536101 xref: OMIM:600462 xref: OMIM:613561 xref: UMLS:C1838103 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206966 ! Mitochondrial myopathy relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis relationship: part_of Orphanet:98362 ! Constitutional sideroblastic anemia property_value: alternative:term "MLASA" xsd:string property_value: alternative:term "MSA" xsd:string property_value: alternative:term "Myopathy, lactic acidosis and sideroblastic anemia" xsd:string [Term] id: Orphanet:25980 name: X-linked myopathy with excessive autophagy xref: ICD10:G71.8 xref: OMIM:310440 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206644 ! Progressive muscular dystrophy relationship: part_of Orphanet:206662 ! Inclusion myopathy property_value: alternative:term "Vacuolar myopathy" xsd:string property_value: alternative:term "XMEA" xsd:string [Term] id: Orphanet:26 name: Methylmalonic acidemia with homocystinuria xref: ICD10:E72.1 xref: MESH:C537359 xref: OMIM:277380 xref: OMIM:277400 xref: OMIM:277410 xref: OMIM:614857 xref: UMLS:C1848561 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79163 ! Classic organic aciduria relationship: part_of Orphanet:79171 ! Disorder of cobalamin metabolism and transport relationship: part_of Orphanet:98396 ! Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder property_value: alternative:term "Combined defect in adenosylcobalamin and methylcobalamin synthesis" xsd:string property_value: alternative:term "Methylmalonic aciduria with homocystinuria" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cb1J) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ; see these terms)." xsd:string [Term] id: Orphanet:2601 name: Myopathy - growth delay - intellectual deficit - hypospadias xref: ICD10:G71.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:260305 name: Autosomal recessive sideroblastic anemia xref: ICD10:D64.0 xref: OMIM:205950 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98362 ! Constitutional sideroblastic anemia property_value: alternative:term "ARSA" xsd:string property_value: alternative:term "Congenital sideroblastic anemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin." xsd:string [Term] id: Orphanet:260331 name: SMAD family member 3 xref: ENSEMBL:ENSG00000166949 xref: GENATLAS:SMAD3 xref: HGNC:6769 xref: OMIM:603109 xref: REACTOME:P84022 xref: UNIPROTKB/SWISSPROT:P84022 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:284984 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Aneurysm - osteoarthritis syndrome relationship: Orphanet:317343 Orphanet:91387 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial thoracic aortic aneurysm and aortic dissection property_value: alternative:term "HsT17436" xsd:string property_value: alternative:term "JV15-2" xsd:string property_value: alternative:term "MAD, mothers against decapentaplegic homolog 3 (Drosophila)" xsd:string property_value: alternative:term "MADH3" xsd:string property_value: alternative:term "SMAD, mothers against DPP homolog 3 (Drosophila)" xsd:string property_value: symbol "SMAD3" xsd:string [Term] id: Orphanet:260335 name: origin recognition complex, subunit 4 xref: ENSEMBL:ENSG00000115947 xref: GENATLAS:ORC4 xref: HGNC:8490 xref: OMIM:603056 xref: REACTOME:O43929 xref: UNIPROTKB/SWISSPROT:O43929 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2554 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ear-patella-short stature syndrome property_value: alternative:term "HsORC4" xsd:string property_value: alternative:term "ORC4L" xsd:string property_value: alternative:term "Orc4p" xsd:string property_value: alternative:term "origin recognition complex, subunit 4 (yeast homolog)-like" xsd:string property_value: alternative:term "origin recognition complex, subunit 4 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "origin recognition complex, subunit 4-like (S. cerevisiae)" xsd:string property_value: alternative:term "origin recognition complex, subunit 4-like (yeast)" xsd:string property_value: symbol "ORC4" xsd:string [Term] id: Orphanet:260339 name: origin recognition complex, subunit 6 xref: ENSEMBL:ENSG00000091651 xref: GENATLAS:ORC6 xref: HGNC:17151 xref: OMIM:607213 xref: REACTOME:Q9Y5N6 xref: UNIPROTKB/SWISSPROT:Q9Y5N6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2554 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ear-patella-short stature syndrome property_value: alternative:term "ORC6L" xsd:string property_value: alternative:term "origin recognition complex, subunit 6 homolog-like (yeast)" xsd:string property_value: alternative:term "origin recognition complex, subunit 6 like (yeast)" xsd:string property_value: symbol "ORC6" xsd:string [Term] id: Orphanet:260341 name: chromatin licensing and DNA replication factor 1 xref: ENSEMBL:ENSG00000167513 xref: GENATLAS:CDT1 xref: HGNC:24576 xref: OMIM:605525 xref: REACTOME:Q9H211 xref: UNIPROTKB/SWISSPROT:Q9H211 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2554 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ear-patella-short stature syndrome property_value: alternative:term "DUP" xsd:string property_value: alternative:term "RIS2" xsd:string property_value: symbol "CDT1" xsd:string [Term] id: Orphanet:260345 name: cell division cycle 6 xref: ENSEMBL:ENSG00000094804 xref: GENATLAS:CDC6 xref: HGNC:1744 xref: OMIM:602627 xref: REACTOME:Q99741 xref: UNIPROTKB/SWISSPROT:Q99741 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2554 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ear-patella-short stature syndrome property_value: alternative:term "CDC18L" xsd:string property_value: alternative:term "CDC6 (cell division cycle 6, S. cerevisiae) homolog" xsd:string property_value: alternative:term "CDC6 cell division cycle 6 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "cell division cycle 6 homolog (S. cerevisiae)" xsd:string property_value: symbol "CDC6" xsd:string [Term] id: Orphanet:260351 name: tetratricopeptide repeat domain 21B xref: ENSEMBL:ENSG00000123607 xref: GENATLAS:TTC21B xref: HGNC:25660 xref: OMIM:612014 xref: UNIPROTKB/SWISSPROT:Q7Z4L5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:474 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Jeune syndrome relationship: Orphanet:317343 Orphanet:93591 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile autosomal recessive medullary cystic kidney disease property_value: alternative:term "FLJ11457" xsd:string property_value: alternative:term "IFT139" xsd:string property_value: alternative:term "JBTS11" xsd:string property_value: alternative:term "NPHP12" xsd:string property_value: symbol "TTC21B" xsd:string [Term] id: Orphanet:260358 name: tetratricopeptide repeat domain 19 xref: ENSEMBL:ENSG00000011295 xref: GENATLAS:TTC19 xref: HGNC:26006 xref: OMIM:613814 xref: UNIPROTKB/SWISSPROT:Q6DKK2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1460 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated CoQ-cytochrome C reductase deficiency property_value: alternative:term "FLJ20343" xsd:string property_value: alternative:term "MGC19520" xsd:string property_value: symbol "TTC19" xsd:string [Term] id: Orphanet:260361 name: tectonic family member 2 xref: ENSEMBL:ENSG00000168778 xref: GENATLAS:TCTN2 xref: HGNC:25774 xref: OMIM:613846 xref: UNIPROTKB/SWISSPROT:Q96GX1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220497 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with renal defect relationship: Orphanet:317343 Orphanet:564 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Meckel syndrome property_value: alternative:term "C12orf38" xsd:string property_value: alternative:term "chromosome 12 open reading frame 38" xsd:string property_value: alternative:term "FLJ12975" xsd:string property_value: alternative:term "Meckel syndrome, type 8" xsd:string property_value: alternative:term "MKS8" xsd:string property_value: alternative:term "TECT2" xsd:string property_value: symbol "TCTN2" xsd:string [Term] id: Orphanet:2604 name: Familial visceral myopathy xref: ICD10:G71.2 xref: ICD10:K56.0 xref: OMIM:155310 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:104009 ! Congenital intestinal motility disorder property_value: alternative:term "Familial hollow visceral myopathy" xsd:string property_value: alternative:term "Hereditary hollow visceral myopathy" xsd:string property_value: alternative:term "Megaduodenum and/or megacystis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infection." xsd:string [Term] id: Orphanet:260545 name: ankyrin repeat domain 26 xref: ENSEMBL:ENSG00000107890 xref: GENATLAS:ANKRD26 xref: HGNC:29186 xref: OMIM:610855 xref: UNIPROTKB/SWISSPROT:Q9UPS8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:168629 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal thrombocytopenia with normal platelets property_value: alternative:term "KIAA1074" xsd:string property_value: symbol "ANKRD26" xsd:string [Term] id: Orphanet:260583 name: mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase xref: ENSEMBL:ENSG00000095015 xref: GENATLAS:MAP3K1 xref: HGNC:6848 xref: IUPHAR:2069 xref: OMIM:600982 xref: REACTOME:Q13233 xref: UNIPROTKB/SWISSPROT:Q13233 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:242 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XY complete gonadal dysgenesis relationship: Orphanet:317343 Orphanet:251510 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XY partial gonadal dysgenesis property_value: alternative:term "MAPKKK1" xsd:string property_value: alternative:term "MEKK" xsd:string property_value: alternative:term "MEKK1" xsd:string property_value: alternative:term "mitogen-activated protein kinase kinase kinase 1" xsd:string property_value: symbol "MAP3K1" xsd:string [Term] id: Orphanet:260588 name: origin recognition complex, subunit 1 xref: ENSEMBL:ENSG00000085840 xref: GENATLAS:ORC1 xref: HGNC:8487 xref: OMIM:601902 xref: REACTOME:Q13415 xref: UNIPROTKB/SWISSPROT:Q13415 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2554 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ear-patella-short stature syndrome property_value: alternative:term "HSORC1" xsd:string property_value: alternative:term "ORC1L" xsd:string property_value: alternative:term "origin recognition complex 1" xsd:string property_value: alternative:term "origin recognition complex, subunit 1 (yeast homolog)-like" xsd:string property_value: alternative:term "origin recognition complex, subunit 1 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "origin recognition complex, subunit 1, S. cerevisiae, homolog-like" xsd:string property_value: alternative:term "origin recognition complex, subunit 1-like (yeast)" xsd:string property_value: alternative:term "PARC1" xsd:string property_value: alternative:term "replication control protein 1" xsd:string property_value: symbol "ORC1" xsd:string [Term] id: Orphanet:260595 name: glycerate kinase xref: ENSEMBL:ENSG00000168237 xref: GENATLAS:GLYCTK xref: HGNC:24247 xref: OMIM:610516 xref: UNIPROTKB/SWISSPROT:Q8IVS8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:941 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! D-glyceric aciduria property_value: alternative:term "HBEBP2" xsd:string property_value: alternative:term "HBEBP4" xsd:string property_value: symbol "GLYCTK" xsd:string [Term] id: Orphanet:260599 name: collectin sub-family member 11 xref: ENSEMBL:ENSG00000118004 xref: GENATLAS:COLEC11 xref: HGNC:17213 xref: OMIM:612502 xref: REACTOME:Q9BWP8 xref: UNIPROTKB/SWISSPROT:Q9BWP8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:293843 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Craniofacial-ulnar-renal syndrome property_value: alternative:term "MGC3279" xsd:string property_value: symbol "COLEC11" xsd:string [Term] id: Orphanet:260602 name: ring finger protein 213 xref: ENSEMBL:ENSG00000173821 xref: GENATLAS:RNF213 xref: HGNC:14539 xref: OMIM:613768 xref: UNIPROTKB/SWISSPROT:Q63HN8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:2573 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Moyamoya disease property_value: alternative:term "C17orf27" xsd:string property_value: alternative:term "chromosome 17 open reading frame 27" xsd:string property_value: alternative:term "KIAA1554" xsd:string property_value: alternative:term "KIAA1618" xsd:string property_value: alternative:term "Moyamoya disease 2" xsd:string property_value: alternative:term "moyamoya disease 2" xsd:string property_value: alternative:term "MYMY2" xsd:string property_value: alternative:term "NET57" xsd:string property_value: symbol "RNF213" xsd:string [Term] id: Orphanet:2608 name: N syndrome xref: ICD10:Q87.8 xref: MESH:C536108 xref: OMIM:310465 xref: UMLS:C2936859 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:260889 name: tubulin, alpha 8 xref: ENSEMBL:ENSG00000183785 xref: GENATLAS:TUBA8 xref: HGNC:12410 xref: OMIM:605742 xref: UNIPROTKB/SWISSPROT:Q9NY65 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:250972 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Polymicrogyria with optic nerve hypoplasia property_value: alternative:term "TUBAL2" xsd:string property_value: symbol "TUBA8" xsd:string [Term] id: Orphanet:260894 name: 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase xref: ENSEMBL:ENSG00000138363 xref: GENATLAS:ATIC xref: HGNC:794 xref: OMIM:601731 xref: REACTOME:P31939 xref: UNIPROTKB/SWISSPROT:P31939 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:250977 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! AICA-ribosiduria property_value: alternative:term "AICARFT" xsd:string property_value: alternative:term "IMPCHASE" xsd:string property_value: alternative:term "phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase" xsd:string property_value: alternative:term "PURH" xsd:string property_value: symbol "ATIC" xsd:string [Term] id: Orphanet:2609 name: Isolated NADH-CoQ reductase deficiency xref: ICD10:G71.3 xref: OMIM:252010 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:206966 ! Mitochondrial myopathy relationship: part_of Orphanet:254846 ! Isolated oxidative phosphorylation complex disorder relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Isolated mitochondrial respiratory chain complex I deficiency" xsd:string property_value: alternative:term "Isolated NADH-coenzyme Q reductase deficiency" xsd:string property_value: alternative:term "Isolated NADH-ubiquinone reductase deficiency" xsd:string [Term] id: Orphanet:261 name: Emery-Dreifuss muscular dystrophy xref: ICD10:G71.0 xref: MESH:D020389 xref: OMIM:181350 xref: OMIM:300696 xref: OMIM:310300 xref: OMIM:612998 xref: OMIM:612999 xref: OMIM:614302 xref: SNOMED CT:111508004 xref: UMLS:C0410189 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:206644 ! Progressive muscular dystrophy relationship: part_of Orphanet:217610 ! Neuromuscular disease with dilated cardiomyopathy property_value: alternative:term "EDMD" xsd:string property_value: alternative:term "Emerinopathy" xsd:string [Term] id: Orphanet:26106 name: Familial gastric cancer xref: ICD10:C16 xref: OMIM:137215 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:165658 ! Genetic gastro-esophageal disease relationship: part_of Orphanet:271835 ! Genetic digestive tract tumor relationship: part_of Orphanet:63443 ! Gastric cancer property_value: alternative:term "Familial stomach cancer" xsd:string [Term] id: Orphanet:2611 name: Linear verrucous nevus syndrome xref: ICD10:Q82.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:294057 ! Rare nevus property_value: alternative:term "Linear hamartoma syndrome" xsd:string [Term] id: Orphanet:261102 name: Distal 7q11.23 microduplication syndrome xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262887 ! Partial duplication of the long arm of chromosome 7 property_value: alternative:term "Distal dup(7)(q11.23)" xsd:string property_value: alternative:term "Distal trisomy 7q11.23" xsd:string [Term] id: Orphanet:261112 name: Monosomy 9p xref: ICD10:Q93.5 xref: OMIM:158170 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:261929 ! Partial deletion of the short arm of chromosome 9 property_value: alternative:term "9p deletion syndrome" xsd:string property_value: alternative:term "9p- syndrome" xsd:string property_value: alternative:term "Alfi syndrome" xsd:string [Term] id: Orphanet:261120 name: 14q11.2 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:613457 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262110 ! Partial deletion of the long arm of chromosome 14 property_value: alternative:term "Del(14)(q11.2)" xsd:string property_value: alternative:term "Monosomy 14q11.2" xsd:string [Term] id: Orphanet:261144 name: 14q12 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262110 ! Partial deletion of the long arm of chromosome 14 property_value: alternative:term "Del(14)(q12)" xsd:string property_value: alternative:term "Monosomy 14q12" xsd:string [Term] id: Orphanet:261183 name: 15q11.2 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262119 ! Partial deletion of the long arm of chromosome 15 property_value: alternative:term "Del(15)(q11.2)" xsd:string property_value: alternative:term "Monosomy 15q11.2" xsd:string [Term] id: Orphanet:261190 name: 15q14 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262119 ! Partial deletion of the long arm of chromosome 15 property_value: alternative:term "Del(15)(q14)" xsd:string property_value: alternative:term "Monosomy 15q14" xsd:string [Term] id: Orphanet:261197 name: Proximal 16p11.2 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:611913 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:261956 ! Partial deletion of the short arm of chromosome 16 property_value: alternative:term "Proximal del(16)(p11.2)" xsd:string property_value: alternative:term "Proximal monosomy 16p11.2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity." xsd:string [Term] id: Orphanet:2612 name: Linear nevus sebaceus syndrome xref: ICD10:Q85.8 xref: OMIM:163200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:294057 ! Rare nevus relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis relationship: part_of Orphanet:98588 ! Palpebral nevus relationship: part_of Orphanet:98617 ! Bulbar conjunctival dermoid or conjunctival dermolipoma property_value: alternative:term "Nevus sebaceus of Jadassohn" xsd:string property_value: alternative:term "Nevus sebaceus syndrome" xsd:string property_value: alternative:term "Organoid nevus syndrome" xsd:string property_value: alternative:term "Schimmelpenning syndrome" xsd:string property_value: alternative:term "Solomon syndrome" xsd:string [Term] id: Orphanet:261204 name: 16p11.2p12.2 microduplication syndrome xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:262794 ! Partial duplication of the short arm of chromosome 16 property_value: alternative:term "Dup(16)(p11.2p12.2)" xsd:string property_value: alternative:term "Trisomy 16p11.2p12.2" xsd:string [Term] id: Orphanet:261211 name: 16p11.2p12.2 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:613604 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:261956 ! Partial deletion of the short arm of chromosome 16 property_value: alternative:term "16p11.2-p12.2 microdeletion syndrome" xsd:string property_value: alternative:term "Del(16)(p11.2p12.2)" xsd:string property_value: alternative:term "Monosomy 16p11.2-p12.2" xsd:string property_value: alternative:term "Monosomy 16p11.2p12.2" xsd:string [Term] id: Orphanet:261222 name: Distal 16p11.2 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:613444 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:261956 ! Partial deletion of the short arm of chromosome 16 property_value: alternative:term "Distal del(16)(p11.2)" xsd:string property_value: alternative:term "Distal monosomy 16p11.2" xsd:string [Term] id: Orphanet:261229 name: 14q11.2 microduplication syndrome xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262941 ! Partial duplication of the long arm of chromosome 14 property_value: alternative:term "Dup(14)(q11.2)" xsd:string property_value: alternative:term "Trisomy 14q11.2" xsd:string [Term] id: Orphanet:261236 name: 16p13.11 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:261956 ! Partial deletion of the short arm of chromosome 16 property_value: alternative:term "Del(16)(p13.11)" xsd:string property_value: alternative:term "Monosomy 16p13.11" xsd:string [Term] id: Orphanet:261243 name: 16p13.11 microduplication syndrome xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262794 ! Partial duplication of the short arm of chromosome 16 property_value: alternative:term "Dup(16)(p13.11)" xsd:string property_value: alternative:term "Trisomy 16p13.11" xsd:string [Term] id: Orphanet:261250 name: 16q24.3 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262128 ! Partial deletion of the long arm of chromosome 16 property_value: alternative:term "Del(16)(q24.3)" xsd:string property_value: alternative:term "Monosomy 16q24.3" xsd:string [Term] id: Orphanet:261257 name: Distal 17p13.3 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:261965 ! Partial monosomy of the short arm of chromosome 17 property_value: alternative:term "Distal del(17)(p13.3 )" xsd:string property_value: alternative:term "Distal monosomy 17p13.3" xsd:string [Term] id: Orphanet:261265 name: 17q12 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:614527 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:262137 ! Partial deletion of the long arm of chromosome 17 property_value: alternative:term "Del(17)(q12)" xsd:string property_value: alternative:term "Monosomy 17q12" xsd:string [Term] id: Orphanet:261272 name: 17q12 microduplication syndrome xref: ICD10:Q92.3 xref: OMIM:614526 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262968 ! Partial duplication of the long arm of chromosome 17 property_value: alternative:term "Dup(17)(q12)" xsd:string property_value: alternative:term "Trisomy 17q12" xsd:string [Term] id: Orphanet:261279 name: 17q23.1q23.2 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:613355 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262137 ! Partial deletion of the long arm of chromosome 17 property_value: alternative:term "17q23.1-q23.2 microdeletion syndrome" xsd:string property_value: alternative:term "Del(17)(q23.1q23.2)" xsd:string property_value: alternative:term "Monosomy 17q23.1-q23.2" xsd:string property_value: alternative:term "Monosomy 17q23.1q23.2" xsd:string [Term] id: Orphanet:261290 name: Trisomy 17p xref: ICD10:Q92.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:262803 ! Partial duplication of the short arm of chromosome 17 property_value: alternative:term "Dup(17p)" xsd:string [Term] id: Orphanet:261295 name: 20p12.3 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:261992 ! Partial monosomy of the short arm of chromosome 20 property_value: alternative:term "Del(20)(p12.3)" xsd:string property_value: alternative:term "Monosomy 20p12.3" xsd:string [Term] id: Orphanet:2613 name: Nail-patella-like renal disease xref: OMIM:256020 xref: SNOMED CT:236527004 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102373 ! Primary glomerular disease property_value: alternative:term "Salcedo syndrome" xsd:string [Term] id: Orphanet:261304 name: Paternal 20q13.2q13.3 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262164 ! Partial deletion of the long arm of chromosome 20 property_value: alternative:term "Paternal 20q13.2-q13.3 microdeletion syndrome" xsd:string property_value: alternative:term "Paternal del(20)(q13.2q13.3)" xsd:string property_value: alternative:term "Paternal monosomy 20q13.2-q13.3" xsd:string property_value: alternative:term "Paternal monosomy 20q13.2q13.3" xsd:string [Term] id: Orphanet:261311 name: 20q13.33 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:262164 ! Partial deletion of the long arm of chromosome 20 property_value: alternative:term "Del(20)(q13.33)" xsd:string property_value: alternative:term "Monosomy 20q13.33" xsd:string [Term] id: Orphanet:261318 name: Trisomy 20p xref: ICD10:Q92.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262692 ! Partial trisomy of chromosome 20 property_value: alternative:term "Dup(20p)" xsd:string property_value: alternative:term "Duplication of 20p" xsd:string property_value: alternative:term "Partial duplication of chromosome 20p" xsd:string property_value: alternative:term "Partial duplication of the short arm of chromosome 20" xsd:string property_value: alternative:term "Partial trisomy 20p" xsd:string property_value: alternative:term "Partial trisomy of chromosome 20p" xsd:string property_value: alternative:term "Partial trisomy of the short arm of chromosome 20" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features." xsd:string [Term] id: Orphanet:261323 name: 21q22.11q22.12 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262173 ! Partial deletion of the long arm of chromosome 21 property_value: alternative:term "21q22.11-q22.12 microdeletion syndrome" xsd:string property_value: alternative:term "Del(21)(q22.11q22.12)" xsd:string property_value: alternative:term "Monosomy 21q22.11-q22.12" xsd:string property_value: alternative:term "Monosomy 21q22.11q22.12" xsd:string [Term] id: Orphanet:261330 name: Distal 22q11.2 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:611867 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:262182 ! Partial deletion of the long arm of chromosome 22 property_value: alternative:term "Distal del(22)(q11.2)" xsd:string property_value: alternative:term "Distal monosomy 22q11.2" xsd:string [Term] id: Orphanet:261337 name: Distal 22q11.2 microduplication syndrome xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:263004 ! Partial duplication of the long arm of chromosome 22 property_value: alternative:term "Distal dup(22)(q11.2)" xsd:string property_value: alternative:term "Distal trisomy 22q11.2" xsd:string [Term] id: Orphanet:261344 name: Trisomy 1q xref: ICD10:Q92.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262833 ! Partial duplication of the long arm of chromosome 1 property_value: alternative:term "Duplication 1q" xsd:string [Term] id: Orphanet:261349 name: 2p15p16.1 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:612513 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:261866 ! Partial deletion of the short arm of chromosome 2 property_value: alternative:term "2p15-p16.1 microdeletion syndrome" xsd:string property_value: alternative:term "Del(2)(p15p16.1)" xsd:string property_value: alternative:term "Monosomy 2p15-p16.1" xsd:string property_value: alternative:term "Monosomy 2p15p16.1" xsd:string [Term] id: Orphanet:26137 name: Juvenile temporal arteritis xref: ICD10:L95.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68362 ! Rare vascular disease property_value: alternative:term "Non-giant cell granulomatous temporal arteritis with eosinophilia" xsd:string [Term] id: Orphanet:2614 name: Nail-patella syndrome xref: ICD10:Q87.2 xref: MEDDRA:10063431 xref: MESH:D009261 xref: OMIM:161200 xref: SNOMED CT:22199006 xref: UMLS:C0027341 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102373 ! Primary glomerular disease relationship: part_of Orphanet:79370 ! Syndromic nail anomaly relationship: part_of Orphanet:93455 ! Patellar dysostosis relationship: part_of Orphanet:98704 ! Onycho-patellar syndrome with eye involvement property_value: alternative:term "Onychoosteodysplasia" xsd:string property_value: alternative:term "Turner-Kieser syndrome" xsd:string [Term] id: Orphanet:261476 name: Monosomy Xp21 xref: ICD10:Q99.8 xref: OMIM:300679 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:263731 ! Partial monosomy of the short arm of chromosome X relationship: part_of Orphanet:308993 ! Glycerol kinase deficiency property_value: alternative:term "Del(X)(p21)" xsd:string property_value: alternative:term "Glycerol kinase deficiency-contiguous gene syndrome" xsd:string property_value: alternative:term "Xp21 microdeletion syndrome" xsd:string [Term] id: Orphanet:261483 name: Xq27.3q28 duplication syndrome xref: ICD10:Q99.8 xref: OMIM:300869 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:263783 ! Partial duplication of the long arm of chromosome X property_value: alternative:term "Dup(X)(q27.3q28)" xsd:string property_value: alternative:term "Trisomy Xq27.3-q28" xsd:string property_value: alternative:term "Trisomy Xq27.3q28" xsd:string property_value: alternative:term "Xq27.3-q28 microduplication syndrome" xsd:string [Term] id: Orphanet:261494 name: Kleefstra syndrome xref: ICD10:Q87.0 xref: OMIM:610253 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features." xsd:string [Term] id: Orphanet:2615 name: Nakajo-Nishimura syndrome xref: ICD10:L98.8 xref: OMIM:256040 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:271870 ! Rare genetic systemic or rheumatologic disease relationship: part_of Orphanet:290842 ! Autoinflammatory syndrome with skin involvement relationship: part_of Orphanet:324977 ! Proteasome disability syndrome property_value: alternative:term "Amyotrophy - fat tissue anomaly" xsd:string property_value: alternative:term "NNS" xsd:string property_value: alternative:term "Secondary hypertrophic osteoperiostosis with pernio" xsd:string [Term] id: Orphanet:261501 name: Atypical Norrie disease due to monosomy Xp11.3 xref: ICD10:H35.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:263731 ! Partial monosomy of the short arm of chromosome X property_value: alternative:term "Atypical Norrie disease due to del(X)(p11.3)" xsd:string property_value: alternative:term "Atypical Norrie disease due to Xp11.3 microdeletion" xsd:string [Term] id: Orphanet:261519 name: Maternal uniparental disomy of chromosome X xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:263793 ! Uniparental disomy of chromosome X property_value: alternative:term "UPD(X)mat" xsd:string [Term] id: Orphanet:261524 name: Paternal uniparental disomy of chromosome X xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:263793 ! Uniparental disomy of chromosome X property_value: alternative:term "UPD(X)pat" xsd:string [Term] id: Orphanet:261529 name: Ring chromosome Y xref: ICD10:Q98.6 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98158 ! Chromosome Y structural anomaly property_value: alternative:term "r(Y)" xsd:string [Term] id: Orphanet:261534 name: 49,XXXYY syndrome xref: ICD10:Q98.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:263749 ! X and Y chromosomal anomaly [Term] id: Orphanet:261537 name: Mowat-Wilson syndrome due to monosomy 2q22 xref: ICD10:Q43.1 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:2152 ! Mowat-Wilson syndrome relationship: part_of Orphanet:262010 ! Partial deletion of the long arm of chromosome 2 property_value: alternative:term "Hirschsprung disease and intellectual deficit due to 2q22 microdeletion" xsd:string property_value: alternative:term "Hirschsprung disease and intellectual deficit due to del(2)(q22)" xsd:string property_value: alternative:term "Hirschsprung disease and intellectual deficit due to monosomy 2q22" xsd:string property_value: alternative:term "Mowat-Wilson syndrome due to 2q22 microdeletion" xsd:string property_value: alternative:term "Mowat-Wilson syndrome due to del(2)q(22)" xsd:string [Term] id: Orphanet:261552 name: Mowat-Wilson syndrome due to a point mutation xref: ICD10:Q43.1 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:2152 ! Mowat-Wilson syndrome property_value: alternative:term "Hirschsprung disease and intellectual deficit due to a point mutation" xsd:string [Term] id: Orphanet:261559 name: Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion xref: ICD10:Q10.3 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:126 ! Blepharophimosis - epicanthus inversus - ptosis relationship: part_of Orphanet:262019 ! Partial deletion of the long arm of chromosome 3 property_value: alternative:term "Blepharophimosis - epicanthus inversus - ptosis due to del(3)(q23)" xsd:string property_value: alternative:term "Blepharophimosis - epicanthus inversus - ptosis due to monosomy 3q23" xsd:string property_value: alternative:term "Blepharophimosis types 1 and 2 due to 3q23 microdeletion" xsd:string property_value: alternative:term "Blepharophimosis types 1 and 2 due to del(3)(q23)" xsd:string property_value: alternative:term "Blepharophimosis types 1 and 2 due to monosomy 3q23" xsd:string [Term] id: Orphanet:261572 name: Blepharophimosis - epicanthus inversus - ptosis due to a point mutation xref: ICD10:Q10.3 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:126 ! Blepharophimosis - epicanthus inversus - ptosis property_value: alternative:term "Blepharophimosis types 1 and 2 due to a point mutation" xsd:string [Term] id: Orphanet:261579 name: Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion xref: ICD10:Q10.3 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:126 ! Blepharophimosis - epicanthus inversus - ptosis property_value: alternative:term "Blepharophimosis types 1 and 2 due to polyA expansion" xsd:string [Term] id: Orphanet:261584 name: Familial adenomatous polyposis due to 5q22.2 microdeletion xref: ICD10:D12.6 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:262038 ! Partial deletion of the long arm of chromosome 5 relationship: part_of Orphanet:733 ! Familial adenomatous polyposis property_value: alternative:term "Colorectal adenomatous polyposis due to monosomy 5q22.2" xsd:string property_value: alternative:term "Familial adenomatous polyposis due to del(5)(q22.2)" xsd:string property_value: alternative:term "Familial adenomatous polyposis due to monosomy 5q22.2" xsd:string property_value: alternative:term "Familial polyposis coli due to monosomy 5q22.2" xsd:string property_value: alternative:term "FAP due to monosomy 5q22.2" xsd:string [Term] id: Orphanet:2616 name: 3M syndrome xref: ICD10:Q87.1 xref: OMIM:273750 xref: OMIM:612921 xref: OMIM:614205 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139021 ! Malformation syndrome with short stature relationship: part_of Orphanet:183570 ! Genetic malformation syndrome with short stature relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:93440 ! Slender bone dysplasia property_value: alternative:term "3-M syndrome" xsd:string property_value: alternative:term "Dolichospondylic dysplasia" xsd:string property_value: alternative:term "Gloomy syndrome" xsd:string property_value: alternative:term "Le Merrer syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "3M syndrome is a primordial growth disorder characterized by a low birth weight, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence." xsd:string [Term] id: Orphanet:261600 name: Alagille syndrome due to 20p12 microdeletion xref: ICD10:Q44.7 xref: OMIM:118450 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:261992 ! Partial monosomy of the short arm of chromosome 20 relationship: part_of Orphanet:52 ! Alagille syndrome property_value: alternative:term "Alagille syndrome due to del(20)(p12)" xsd:string property_value: alternative:term "Alagille syndrome due to monosomy 20p12" xsd:string property_value: alternative:term "Alagille-Watson syndrome due to monosomy 20p12" xsd:string property_value: alternative:term "Arteriohepatic dysplasia due to monosomy 20p12" xsd:string property_value: alternative:term "Syndromic bile duct paucity due to monosomy 20p12" xsd:string [Term] id: Orphanet:261619 name: Alagille syndrome due to a JAG1 point mutation xref: ICD10:Q44.7 xref: OMIM:118450 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:52 ! Alagille syndrome property_value: alternative:term "Alagille-Watson syndrome due to a JAG1 point mutation" xsd:string property_value: alternative:term "Arteriohepatic dysplasia due to a JAG1 point mutation" xsd:string property_value: alternative:term "Syndromic bile duct paucity due to a JAG1 point mutation" xsd:string [Term] id: Orphanet:261629 name: Alagille syndrome due to a NOTCH2 point mutation xref: ICD10:Q44.7 xref: OMIM:610205 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:52 ! Alagille syndrome property_value: alternative:term "Alagille-Watson syndrome due to a NOTCH2 point mutation" xsd:string property_value: alternative:term "Arteriohepatic dysplasia due to a NOTCH2 point mutation" xsd:string property_value: alternative:term "Syndromic bile duct paucity due to a NOTCH2 point mutation" xsd:string [Term] id: Orphanet:261638 name: Okihiro syndrome due to 20q13 microdeletion xref: ICD10:Q87.8 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:262164 ! Partial deletion of the long arm of chromosome 20 relationship: part_of Orphanet:93293 ! Okihiro syndrome property_value: alternative:term "Duane-radial ray syndrome due to monosomy 20q13" xsd:string property_value: alternative:term "Okihiro syndrome due to del(20)(q13)" xsd:string property_value: alternative:term "Okihiro syndrome due to monosomy 20q13" xsd:string [Term] id: Orphanet:261647 name: Okihiro syndrome due to a point mutation xref: ICD10:Q87.8 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:93293 ! Okihiro syndrome property_value: alternative:term "Duane-radial ray syndrome due to a point mutation" xsd:string [Term] id: Orphanet:261652 name: Kleefstra syndrome due to a point mutation xref: ICD10:Q87.0 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:261494 ! Kleefstra syndrome [Term] id: Orphanet:2617 name: Bird headed-dwarfism, Montreal type xref: ICD10:Q87.1 xref: MESH:C535448 xref: OMIM:210700 xref: UMLS:C1859468 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:261766 name: Partial deletion of chromosome 1 xref: ICD10:Q93.5 is_a: Orphanet:98142 ! Partial autosomal monosomy property_value: alternative:term "Partial monosomy of chromosome 1" xsd:string [Term] id: Orphanet:261771 name: Partial deletion of chromosome 2 xref: ICD10:Q93.5 is_a: Orphanet:98142 ! Partial autosomal monosomy property_value: alternative:term "Partial monosomy of chromosome 2" xsd:string [Term] id: Orphanet:261776 name: Partial deletion of chromosome 3 xref: ICD10:Q93.5 is_a: Orphanet:98142 ! Partial autosomal monosomy property_value: alternative:term "Partial monosomy of chromosome 3" xsd:string [Term] id: Orphanet:261781 name: Partial deletion of chromosome 4 xref: ICD10:Q93.3 xref: ICD10:Q93.5 is_a: Orphanet:98142 ! Partial autosomal monosomy property_value: alternative:term "Partial monosomy of chromosome 4" xsd:string [Term] id: Orphanet:261786 name: Partial deletion of chromosome 5 xref: ICD10:Q93.4 xref: ICD10:Q93.5 is_a: Orphanet:98142 ! Partial autosomal monosomy property_value: alternative:term "Partial monosomy of chromosome 5" xsd:string [Term] id: Orphanet:261791 name: Partial deletion of chromosome 6 xref: ICD10:Q93.5 is_a: Orphanet:98142 ! Partial autosomal monosomy property_value: alternative:term "Partial monosomy of chromosome 6" xsd:string [Term] id: Orphanet:261796 name: Partial deletion of chromosome 7 xref: ICD10:Q93.5 is_a: Orphanet:98142 ! Partial autosomal monosomy property_value: alternative:term "Partial monosomy of chromosome 7" xsd:string [Term] id: Orphanet:261801 name: Partial deletion of chromosome 8 xref: ICD10:Q93.5 is_a: Orphanet:98142 ! Partial autosomal monosomy property_value: alternative:term "Partial monosomy of chromosome 8" xsd:string [Term] id: Orphanet:261806 name: Partial deletion of chromosome 9 xref: ICD10:Q93.5 is_a: Orphanet:98142 ! Partial autosomal monosomy property_value: alternative:term "Partial monosomy of chromosome 9" xsd:string [Term] id: Orphanet:261811 name: Partial deletion of chromosome 10 xref: ICD10:Q93.5 is_a: Orphanet:98142 ! Partial autosomal monosomy property_value: alternative:term "Partial monosomy of chromosome 10" xsd:string [Term] id: Orphanet:261816 name: Partial deletion of chromosome 11 xref: ICD10:Q93.5 is_a: Orphanet:98142 ! Partial autosomal monosomy property_value: alternative:term "Partial monosomy of chromosome 11" xsd:string [Term] id: Orphanet:261821 name: Partial deletion of the long arm of chromosome 12 xref: ICD10:Q93.5 is_a: Orphanet:282124 ! Partial deletion of chromosome 12 property_value: alternative:term "Partial deletion of chromosome 12q" xsd:string property_value: alternative:term "Partial monosomy of chromosome 12q" xsd:string property_value: alternative:term "Partial monosomy of the long arm of chromosome 12" xsd:string [Term] id: Orphanet:261826 name: Partial deletion of chromosome 16 xref: ICD10:Q93.5 is_a: Orphanet:98142 ! Partial autosomal monosomy property_value: alternative:term "Partial monosomy of chromosome 16" xsd:string [Term] id: Orphanet:261831 name: Partial deletion of chromosome 17 xref: ICD10:Q93.5 is_a: Orphanet:98142 ! Partial autosomal monosomy property_value: alternative:term "Partial monosomy of chromosome 17" xsd:string [Term] id: Orphanet:261836 name: Partial deletion of chromosome 18 xref: ICD10:Q93.5 is_a: Orphanet:98142 ! Partial autosomal monosomy property_value: alternative:term "Partial monosomy of chromosome 18" xsd:string [Term] id: Orphanet:261841 name: Partial deletion of chromosome 19 xref: ICD10:Q93.5 is_a: Orphanet:98142 ! Partial autosomal monosomy property_value: alternative:term "Partial monosomy of chromosome 19" xsd:string [Term] id: Orphanet:261846 name: Partial deletion of chromosome 20 xref: ICD10:Q93.5 is_a: Orphanet:98142 ! Partial autosomal monosomy property_value: alternative:term "Partial monosomy of chromosome 20" xsd:string [Term] id: Orphanet:261857 name: Partial deletion of the short arm of chromosome 1 xref: ICD10:Q93.5 is_a: Orphanet:261766 ! Partial deletion of chromosome 1 property_value: alternative:term "Partial deletion of chromosome 1p" xsd:string property_value: alternative:term "Partial monosomy of chromosome 1p" xsd:string property_value: alternative:term "Partial monosomy of the short arm of chromosome 1" xsd:string [Term] id: Orphanet:261866 name: Partial deletion of the short arm of chromosome 2 xref: ICD10:Q93.5 is_a: Orphanet:261771 ! Partial deletion of chromosome 2 property_value: alternative:term "Partial deletion of chromosome 2p" xsd:string property_value: alternative:term "Partial monosomy of chromosome 2p" xsd:string property_value: alternative:term "Partial monosomy of the short arm of chromosome 2" xsd:string [Term] id: Orphanet:261875 name: Partial deletion of the short arm of chromosome 3 xref: ICD10:Q93.5 is_a: Orphanet:261776 ! Partial deletion of chromosome 3 property_value: alternative:term "Partial deletion of chromosome 3p" xsd:string property_value: alternative:term "Partial monosomy of chromosome 3p" xsd:string property_value: alternative:term "Partial monosomy of the short arm of chromosome 3" xsd:string [Term] id: Orphanet:261884 name: Partial deletion of the short arm of chromosome 4 xref: ICD10:Q93.3 is_a: Orphanet:261781 ! Partial deletion of chromosome 4 property_value: alternative:term "Partial deletion of chromosome 4p" xsd:string property_value: alternative:term "Partial monosomy of chromosome 4p" xsd:string property_value: alternative:term "Partial monosomy of the short arm of chromosome 4" xsd:string [Term] id: Orphanet:261893 name: Partial deletion of the short arm of chromosome 5 xref: ICD10:Q93.4 is_a: Orphanet:261786 ! Partial deletion of chromosome 5 property_value: alternative:term "Partial deletion of chromosome 5p" xsd:string property_value: alternative:term "Partial monosomy of chromosome 5p" xsd:string property_value: alternative:term "Partial monosomy of the short arm of chromosome 5" xsd:string [Term] id: Orphanet:2619 name: Brachydactylous dwarfism, Mseleni type xref: ICD10:Q77.7 xref: MESH:C537086 xref: OMIM:613342 xref: UMLS:C2931420 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia property_value: alternative:term "MJD" xsd:string property_value: alternative:term "Mseleni joint disease" xsd:string [Term] id: Orphanet:261902 name: Partial deletion of the short arm of chromosome 6 xref: ICD10:Q93.5 is_a: Orphanet:261791 ! Partial deletion of chromosome 6 property_value: alternative:term "Partial deletion of chromosome 6p" xsd:string property_value: alternative:term "Partial monosomy of chromosome 6p" xsd:string property_value: alternative:term "Partial monosomy of the short arm of chromosome 6" xsd:string [Term] id: Orphanet:261911 name: Partial deletion of the short arm of chromosome 7 xref: ICD10:Q93.5 is_a: Orphanet:261796 ! Partial deletion of chromosome 7 property_value: alternative:term "Partial deletion of chromosome 7p" xsd:string property_value: alternative:term "Partial monosomy of chromosome 7p" xsd:string property_value: alternative:term "Partial monosomy of the short arm of chromosome 7" xsd:string [Term] id: Orphanet:261920 name: Partial deletion of the short arm of chromosome 8 xref: ICD10:Q93.5 is_a: Orphanet:261801 ! Partial deletion of chromosome 8 property_value: alternative:term "Partial deletion of chromosome 8p" xsd:string property_value: alternative:term "Partial monosomy of chromosome 8p" xsd:string property_value: alternative:term "Partial monosomy of the short arm of chromosome 8" xsd:string [Term] id: Orphanet:261929 name: Partial deletion of the short arm of chromosome 9 xref: ICD10:Q93.5 is_a: Orphanet:261806 ! Partial deletion of chromosome 9 property_value: alternative:term "Partial deletion of chromosome 9p" xsd:string property_value: alternative:term "Partial monosomy of chromosome 9p" xsd:string property_value: alternative:term "Partial monosomy of the short arm of chromosome 9" xsd:string [Term] id: Orphanet:261938 name: Partial deletion of the short arm of chromosome 10 xref: ICD10:Q93.5 is_a: Orphanet:261811 ! Partial deletion of chromosome 10 property_value: alternative:term "Partial deletion of chromosome 10p" xsd:string property_value: alternative:term "Partial monosomy of chromosome 10p" xsd:string property_value: alternative:term "Partial monosomy of the short arm of chromosome 10" xsd:string [Term] id: Orphanet:261947 name: Partial deletion of the short arm of chromosome 11 xref: ICD10:Q93.5 is_a: Orphanet:261816 ! Partial deletion of chromosome 11 property_value: alternative:term "Partial deletion of chromosome 11p" xsd:string property_value: alternative:term "Partial monosomy of chromosome 11p" xsd:string property_value: alternative:term "Partial monosomy of the short arm of chromosome 11" xsd:string [Term] id: Orphanet:261956 name: Partial deletion of the short arm of chromosome 16 xref: ICD10:Q93.5 is_a: Orphanet:261826 ! Partial deletion of chromosome 16 property_value: alternative:term "Partial deletion of chromosome 16p" xsd:string property_value: alternative:term "Partial monosomy of chromosome 16p" xsd:string property_value: alternative:term "Partial monosomy of the short arm of chromosome 16" xsd:string [Term] id: Orphanet:261965 name: Partial monosomy of the short arm of chromosome 17 xref: ICD10:Q93.5 is_a: Orphanet:261831 ! Partial deletion of chromosome 17 property_value: alternative:term "Partial deletion of chromosome 17p" xsd:string property_value: alternative:term "Partial deletion of the short arm of chromosome 17" xsd:string property_value: alternative:term "Partial monosomy of chromosome 17p" xsd:string [Term] id: Orphanet:261974 name: Partial deletion of the short arm of chromosome 18 xref: ICD10:Q93.5 is_a: Orphanet:261836 ! Partial deletion of chromosome 18 property_value: alternative:term "Partial deletion of chromosome 18p" xsd:string property_value: alternative:term "Partial monosomy of chromosome 18p" xsd:string property_value: alternative:term "Partial monosomy of the short arm of chromosome 18" xsd:string [Term] id: Orphanet:261983 name: Partial deletion of the short arm of chromosome 19 xref: ICD10:Q93.5 is_a: Orphanet:261841 ! Partial deletion of chromosome 19 property_value: alternative:term "Partial deletion of chromosome 19p" xsd:string property_value: alternative:term "Partial monosomy of chromosome 19p" xsd:string property_value: alternative:term "Partial monosomy of the short arm of chromosome 19" xsd:string [Term] id: Orphanet:261992 name: Partial monosomy of the short arm of chromosome 20 xref: ICD10:Q93.5 is_a: Orphanet:261846 ! Partial deletion of chromosome 20 property_value: alternative:term "Partial deletion of chromosome 20p" xsd:string property_value: alternative:term "Partial deletion of the short arm of chromosome 20" xsd:string property_value: alternative:term "Partial monosomy of chromosome 20p" xsd:string [Term] id: Orphanet:262 name: Duchenne and Becker muscular dystrophy xref: ICD10:G71.0 is_a: Orphanet:206644 ! Progressive muscular dystrophy is_a: Orphanet:217610 ! Neuromuscular disease with dilated cardiomyopathy is_a: Orphanet:98464 ! X-linked syndromic intellectual deficit relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "Severe dystrophinopathy, Duchenne and Becker type" xsd:string [Term] id: Orphanet:262001 name: Partial deletion of the long arm of chromosome 1 xref: ICD10:Q93.5 is_a: Orphanet:261766 ! Partial deletion of chromosome 1 property_value: alternative:term "Partial deletion of chromosome 1q" xsd:string property_value: alternative:term "Partial monosomy of chromosome 1q" xsd:string property_value: alternative:term "Partial monosomy of the long arm of chromosome 1" xsd:string [Term] id: Orphanet:262010 name: Partial deletion of the long arm of chromosome 2 xref: ICD10:Q93.5 is_a: Orphanet:261771 ! Partial deletion of chromosome 2 property_value: alternative:term "Partial deletion of chromosome 2q" xsd:string property_value: alternative:term "Partial monosomy of chromosome 2q" xsd:string property_value: alternative:term "Partial monosomy of the long arm of chromosome 2" xsd:string [Term] id: Orphanet:262019 name: Partial deletion of the long arm of chromosome 3 xref: ICD10:Q93.5 is_a: Orphanet:261776 ! Partial deletion of chromosome 3 property_value: alternative:term "Partial deletion of chromosome 3q" xsd:string property_value: alternative:term "Partial monosomy of chromosome 3q" xsd:string property_value: alternative:term "Partial monosomy of the long arm of chromosome 3" xsd:string [Term] id: Orphanet:262029 name: Partial deletion of the long arm of chromosome 4 xref: ICD10:Q93.5 is_a: Orphanet:261781 ! Partial deletion of chromosome 4 property_value: alternative:term "Partial deletion of chromosome 4q" xsd:string property_value: alternative:term "Partial monosomy of chromosome 4q" xsd:string property_value: alternative:term "Partial monosomy of the long arm of chromosome 4" xsd:string [Term] id: Orphanet:262038 name: Partial deletion of the long arm of chromosome 5 xref: ICD10:Q93.5 is_a: Orphanet:261786 ! Partial deletion of chromosome 5 property_value: alternative:term "Partial deletion of chromosome 5q" xsd:string property_value: alternative:term "Partial monosomy of chromosome 5q" xsd:string property_value: alternative:term "Partial monosomy of the long arm of chromosome 5" xsd:string [Term] id: Orphanet:262047 name: Partial deletion of the long arm of chromosome 6 xref: ICD10:Q93.5 is_a: Orphanet:261791 ! Partial deletion of chromosome 6 property_value: alternative:term "Partial deletion of chromosome 6q" xsd:string property_value: alternative:term "Partial monosomy of chromosome 6q" xsd:string property_value: alternative:term "Partial monosomy of the long arm of chromosome 6" xsd:string [Term] id: Orphanet:262056 name: Partial deletion of the long arm of chromosome 7 xref: ICD10:Q93.5 is_a: Orphanet:261796 ! Partial deletion of chromosome 7 property_value: alternative:term "Partial deletion of chromosome 7q" xsd:string property_value: alternative:term "Partial monosomy of chromosome 7q" xsd:string property_value: alternative:term "Partial monosomy of the long arm of chromosome 7" xsd:string [Term] id: Orphanet:262065 name: Partial deletion of the long arm of chromosome 8 xref: ICD10:Q93.5 is_a: Orphanet:261801 ! Partial deletion of chromosome 8 property_value: alternative:term "Partial deletion of chromosome 8q" xsd:string property_value: alternative:term "Partial monosomy of chromosome 8q" xsd:string property_value: alternative:term "Partial monosomy of the long arm of chromosome 8" xsd:string [Term] id: Orphanet:262074 name: Partial monosomy of the long arm of chromosome 9 xref: ICD10:Q93.5 is_a: Orphanet:261806 ! Partial deletion of chromosome 9 property_value: alternative:term "Partial deletion of chromosome 9q" xsd:string property_value: alternative:term "Partial deletion of the long arm of chromosome 9" xsd:string property_value: alternative:term "Partial monosomy of chromosome 9q" xsd:string [Term] id: Orphanet:262083 name: Partial monosomy of the long arm of chromosome 10 xref: ICD10:Q93.5 is_a: Orphanet:261811 ! Partial deletion of chromosome 10 property_value: alternative:term "Partial deletion of chromosome 10q" xsd:string property_value: alternative:term "Partial deletion of the long arm of chromosome 10" xsd:string property_value: alternative:term "Partial monosomy of chromosome 10q" xsd:string [Term] id: Orphanet:262092 name: Partial deletion of the long arm of chromosome 11 xref: ICD10:Q93.5 is_a: Orphanet:261816 ! Partial deletion of chromosome 11 property_value: alternative:term "Partial deletion of chromosome 11q" xsd:string property_value: alternative:term "Partial monosomy of chromosome 11q" xsd:string property_value: alternative:term "Partial monosomy of the long arm of chromosome 11" xsd:string [Term] id: Orphanet:2621 name: Low birth weight - dwarfism - dysgammaglobulinemia xref: ICD10:D82.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:331244 ! Other immunodeficiency syndrome with predominantly antibody defects property_value: alternative:term "Christian-Rosenberg syndrome" xsd:string [Term] id: Orphanet:262101 name: Partial deletion of the long arm of chromosome 13 xref: ICD10:Q93.5 is_a: Orphanet:98142 ! Partial autosomal monosomy property_value: alternative:term "Partial deletion of chromosome 13q" xsd:string property_value: alternative:term "Partial monosomy of chromosome 13q" xsd:string property_value: alternative:term "Partial monosomy of the long arm of chromosome 13" xsd:string [Term] id: Orphanet:262110 name: Partial deletion of the long arm of chromosome 14 xref: ICD10:Q93.5 is_a: Orphanet:98142 ! Partial autosomal monosomy property_value: alternative:term "Partial deletion of chromosome 14q" xsd:string property_value: alternative:term "Partial monosomy of chromosome 14q" xsd:string property_value: alternative:term "Partial monosomy of the long arm of chromosome 14" xsd:string [Term] id: Orphanet:262119 name: Partial deletion of the long arm of chromosome 15 xref: ICD10:Q93.5 is_a: Orphanet:98142 ! Partial autosomal monosomy property_value: alternative:term "Partial deletion of chromosome 15q" xsd:string property_value: alternative:term "Partial monosomy of chromosome 15q" xsd:string property_value: alternative:term "Partial monosomy of the long arm of chromosome 15" xsd:string [Term] id: Orphanet:262128 name: Partial deletion of the long arm of chromosome 16 xref: ICD10:Q93.5 is_a: Orphanet:261826 ! Partial deletion of chromosome 16 property_value: alternative:term "Partial deletion of chromosome 16q" xsd:string property_value: alternative:term "Partial monosomy of chromosome 16q" xsd:string property_value: alternative:term "Partial monosomy of the long arm of chromosome 16" xsd:string [Term] id: Orphanet:262137 name: Partial deletion of the long arm of chromosome 17 xref: ICD10:Q93.5 is_a: Orphanet:261831 ! Partial deletion of chromosome 17 property_value: alternative:term "Partial deletion of chromosome 17q" xsd:string property_value: alternative:term "Partial monosomy of chromosome 17q" xsd:string property_value: alternative:term "Partial monosomy of the long arm of chromosome 17" xsd:string [Term] id: Orphanet:262146 name: Partial deletion of the long arm of chromosome 18 xref: ICD10:Q93.5 is_a: Orphanet:261836 ! Partial deletion of chromosome 18 property_value: alternative:term "Partial deletion of chromosome 18q" xsd:string property_value: alternative:term "Partial monosomy of chromosome 18q" xsd:string property_value: alternative:term "Partial monosomy of the long arm of chromosome 18" xsd:string [Term] id: Orphanet:262155 name: Partial deletion of the long arm of chromosome 19 xref: ICD10:Q93.5 is_a: Orphanet:261841 ! Partial deletion of chromosome 19 property_value: alternative:term "Partial deletion of chromosome 19q" xsd:string property_value: alternative:term "Partial monosomy of chromosome 19q" xsd:string property_value: alternative:term "Partial monosomy of the long arm of chromosome 19" xsd:string [Term] id: Orphanet:262164 name: Partial deletion of the long arm of chromosome 20 xref: ICD10:Q93.5 is_a: Orphanet:261846 ! Partial deletion of chromosome 20 property_value: alternative:term "Partial deletion of chromosome 20q" xsd:string property_value: alternative:term "Partial monosomy of chromosome 20q" xsd:string property_value: alternative:term "Partial monosomy of the long arm of chromosome 20" xsd:string [Term] id: Orphanet:262173 name: Partial deletion of the long arm of chromosome 21 xref: ICD10:Q93.5 is_a: Orphanet:98142 ! Partial autosomal monosomy property_value: alternative:term "Partial deletion of chromosome 21q" xsd:string property_value: alternative:term "Partial monosomy of chromosome 21q" xsd:string property_value: alternative:term "Partial monosomy of the long arm of chromosome 21" xsd:string [Term] id: Orphanet:262182 name: Partial deletion of the long arm of chromosome 22 xref: ICD10:Q93.5 is_a: Orphanet:98142 ! Partial autosomal monosomy property_value: alternative:term "Partial deletion of chromosome 22q" xsd:string property_value: alternative:term "Partial monosomy of chromosome 22q" xsd:string property_value: alternative:term "Partial monosomy of the long arm of chromosome 22" xsd:string [Term] id: Orphanet:262191 name: Partial duplication of chromosome 1 is_a: Orphanet:98132 ! Partial autosomal trisomy/tetrasomy property_value: alternative:term "Partial trisomy of chromosome 1" xsd:string [Term] id: Orphanet:262196 name: Partial duplication of chromosome 2 is_a: Orphanet:98132 ! Partial autosomal trisomy/tetrasomy property_value: alternative:term "Partial trisomy of chromosome 2" xsd:string [Term] id: Orphanet:262201 name: Partial duplication of chromosome 3 is_a: Orphanet:98132 ! Partial autosomal trisomy/tetrasomy property_value: alternative:term "Partial trisomy of chromosome 3" xsd:string [Term] id: Orphanet:262206 name: Partial duplication of chromosome 4 is_a: Orphanet:98132 ! Partial autosomal trisomy/tetrasomy property_value: alternative:term "Partial trisomy of chromosome 4" xsd:string [Term] id: Orphanet:262211 name: Partial trisomy/tetrasomy of chromosome 5 is_a: Orphanet:98132 ! Partial autosomal trisomy/tetrasomy property_value: alternative:term "Partial duplication/triplication of chromosome 5" xsd:string [Term] id: Orphanet:2623 name: Geleophysic dysplasia xref: ICD10:Q87.1 xref: MESH:C537677 xref: OMIM:231050 xref: OMIM:614185 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93436 ! Acromelic dysplasia property_value: alternative:term "Geleophysic dwarfism" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \"happy'')." xsd:string [Term] id: Orphanet:262628 name: Partial duplication of chromosome 6 is_a: Orphanet:98132 ! Partial autosomal trisomy/tetrasomy property_value: alternative:term "Partial trisomy of chromosome 6" xsd:string [Term] id: Orphanet:262633 name: Partial duplication of chromosome 7 is_a: Orphanet:98132 ! Partial autosomal trisomy/tetrasomy property_value: alternative:term "Partial trisomy of chromosome 7" xsd:string [Term] id: Orphanet:262638 name: Partial duplication of chromosome 8 is_a: Orphanet:98132 ! Partial autosomal trisomy/tetrasomy property_value: alternative:term "Partial trisomy of chromosome 8" xsd:string [Term] id: Orphanet:262643 name: Partial trisomy/tetrasomy of chromosome 9 is_a: Orphanet:98132 ! Partial autosomal trisomy/tetrasomy property_value: alternative:term "Partial duplication/triplication of chromosome 9" xsd:string [Term] id: Orphanet:262648 name: Partial duplication of chromosome 10 is_a: Orphanet:98132 ! Partial autosomal trisomy/tetrasomy property_value: alternative:term "Partial trisomy of chromosome 10" xsd:string [Term] id: Orphanet:262653 name: Partial duplication of chromosome 11 is_a: Orphanet:98132 ! Partial autosomal trisomy/tetrasomy property_value: alternative:term "Partial trisomy of chromosome 11" xsd:string [Term] id: Orphanet:262658 name: Partial trisomy/tetrasomy of the short arm of chromosome 12 is_a: Orphanet:98132 ! Partial autosomal trisomy/tetrasomy property_value: alternative:term "Partial duplication/triplication of chromosome 12p" xsd:string property_value: alternative:term "Partial duplication/triplication of the short arm of chromosome 12" xsd:string property_value: alternative:term "Partial trisomy/tetrasomy of chromosome 12p" xsd:string [Term] id: Orphanet:262672 name: Partial duplication of chromosome 16 is_a: Orphanet:98132 ! Partial autosomal trisomy/tetrasomy property_value: alternative:term "Partial trisomy of chromosome 16" xsd:string [Term] id: Orphanet:262677 name: Partial duplication of chromosome 17 is_a: Orphanet:98132 ! Partial autosomal trisomy/tetrasomy property_value: alternative:term "Partial trisomy of chromosome 17" xsd:string [Term] id: Orphanet:262682 name: Partial trisomy/tetrasomy of chromosome 18 is_a: Orphanet:98132 ! Partial autosomal trisomy/tetrasomy property_value: alternative:term "Partial duplication/triplication of chromosome 18" xsd:string [Term] id: Orphanet:262687 name: Partial duplication of chromosome 19 is_a: Orphanet:98132 ! Partial autosomal trisomy/tetrasomy property_value: alternative:term "Partial trisomy of chromosome 19" xsd:string [Term] id: Orphanet:262692 name: Partial trisomy of chromosome 20 is_a: Orphanet:98132 ! Partial autosomal trisomy/tetrasomy property_value: alternative:term "Partial duplication of chromosome 20" xsd:string [Term] id: Orphanet:262698 name: Partial duplication of the short arm of chromosome 2 is_a: Orphanet:262196 ! Partial duplication of chromosome 2 property_value: alternative:term "Partial duplication of chromosome 2p" xsd:string property_value: alternative:term "Partial trisomy of chromosome 2p" xsd:string [Term] id: Orphanet:262707 name: Partial duplication of the short arm of chromosome 3 is_a: Orphanet:262201 ! Partial duplication of chromosome 3 property_value: alternative:term "Partial duplication of chromosome 3p" xsd:string property_value: alternative:term "Partial trisomy of chromosome 3p" xsd:string property_value: alternative:term "Partial trisomy of the short arm of chromosome 3" xsd:string [Term] id: Orphanet:262716 name: Partial duplication of the short arm of chromosome 4 is_a: Orphanet:262206 ! Partial duplication of chromosome 4 property_value: alternative:term "Partial duplication of chromosome 4p" xsd:string property_value: alternative:term "Partial trisomy of chromosome 4p" xsd:string property_value: alternative:term "Partial trisomy of the short arm of chromosome 4" xsd:string [Term] id: Orphanet:262725 name: Partial trisomy/tetrasomy of the short arm of chromosome 5 is_a: Orphanet:262211 ! Partial trisomy/tetrasomy of chromosome 5 property_value: alternative:term "Partial duplication/triplication of chromosome 5p" xsd:string property_value: alternative:term "Partial duplication/triplication of the short arm of chromosome 5" xsd:string property_value: alternative:term "Partial trisomy/tétrasomie of chromosome 5p" xsd:string [Term] id: Orphanet:262740 name: Partial duplication of the short arm of chromosome 6 is_a: Orphanet:262628 ! Partial duplication of chromosome 6 property_value: alternative:term "Partial duplication of chromosome 6p" xsd:string property_value: alternative:term "Partial trisomy of chromosome 6p" xsd:string property_value: alternative:term "Partial trisomy of the short arm of chromosome 6" xsd:string [Term] id: Orphanet:262749 name: Partial duplication of the short arm of chromosome 7 is_a: Orphanet:262633 ! Partial duplication of chromosome 7 property_value: alternative:term "Partial duplication of chromosome 7p" xsd:string property_value: alternative:term "Partial trisomy of chromosome 7p" xsd:string property_value: alternative:term "Partial trisomy of the short arm of chromosome 7" xsd:string [Term] id: Orphanet:262758 name: Partial duplication of the short arm of chromosome 8 is_a: Orphanet:262638 ! Partial duplication of chromosome 8 property_value: alternative:term "Partial duplication of chromosome 8p" xsd:string property_value: alternative:term "Partial trisomy of chromosome 8p" xsd:string property_value: alternative:term "Partial trisomy of the short arm of chromosome 8" xsd:string [Term] id: Orphanet:262767 name: Partial trisomy of the short arm of chromosome 9 is_a: Orphanet:262643 ! Partial trisomy/tetrasomy of chromosome 9 property_value: alternative:term "Partial duplication of chromosome 9p" xsd:string property_value: alternative:term "Partial duplication of the short arm of chromosome 9" xsd:string property_value: alternative:term "Partial trisomy of chromosome 9p" xsd:string [Term] id: Orphanet:262776 name: Partial duplication of the short arm of chromosome 10 is_a: Orphanet:262648 ! Partial duplication of chromosome 10 property_value: alternative:term "Partial duplication of chromosome 10p" xsd:string property_value: alternative:term "Partial trisomy of chromosome 10p" xsd:string property_value: alternative:term "Partial trisomy of the short arm of chromosome 10" xsd:string [Term] id: Orphanet:262785 name: Partial duplication of the short arm of chromosome 11 is_a: Orphanet:262653 ! Partial duplication of chromosome 11 property_value: alternative:term "Partial duplication of chromosome 11p" xsd:string property_value: alternative:term "Partial trisomy of chromosome 11p" xsd:string property_value: alternative:term "Partial trisomy of the short arm of chromosome 11" xsd:string [Term] id: Orphanet:262794 name: Partial duplication of the short arm of chromosome 16 is_a: Orphanet:262672 ! Partial duplication of chromosome 16 property_value: alternative:term "Partial duplication of chromosome 16p" xsd:string property_value: alternative:term "Partial trisomy of chromosome 16p" xsd:string property_value: alternative:term "Partial trisomy of the short arm of chromosome 16" xsd:string [Term] id: Orphanet:262803 name: Partial duplication of the short arm of chromosome 17 is_a: Orphanet:262677 ! Partial duplication of chromosome 17 property_value: alternative:term "Partial duplication of chromosome 17p" xsd:string property_value: alternative:term "Partial trisomy of chromosome 17p" xsd:string property_value: alternative:term "Partial trisomy of the short arm of chromosome 17" xsd:string [Term] id: Orphanet:262812 name: Partial trisomy/tetrasomy of the short arm of chromosome 18 is_a: Orphanet:262682 ! Partial trisomy/tetrasomy of chromosome 18 property_value: alternative:term "Partial duplication/triplication of chromosome 18p" xsd:string property_value: alternative:term "Partial duplication/triplication of the short arm of chromosome 18" xsd:string property_value: alternative:term "Partial trisomy/tetrasomy of chromosome 18p" xsd:string [Term] id: Orphanet:262833 name: Partial duplication of the long arm of chromosome 1 is_a: Orphanet:262191 ! Partial duplication of chromosome 1 property_value: alternative:term "Partial duplication of chromosome 1q" xsd:string property_value: alternative:term "Partial trisomy of chromosome 1q" xsd:string property_value: alternative:term "Partial trisomy of the long arm of chromosome 1" xsd:string [Term] id: Orphanet:262842 name: Partial duplication of the long arm of chromosome 2 is_a: Orphanet:262196 ! Partial duplication of chromosome 2 property_value: alternative:term "Partial duplication of chromosome 2q" xsd:string property_value: alternative:term "Partial trisomy of chromosome 2q" xsd:string property_value: alternative:term "Partial trisomy of the long arm of chromosome 2" xsd:string [Term] id: Orphanet:262851 name: Partial duplication of the long arm of chromosome 3 is_a: Orphanet:262201 ! Partial duplication of chromosome 3 property_value: alternative:term "Partial duplication of chromosome 3q" xsd:string property_value: alternative:term "Partial trisomy of chromosome 3q" xsd:string [Term] id: Orphanet:262860 name: Partial duplication of the long arm of chromosome 4 xref: ICD10:Q92.3 is_a: Orphanet:262206 ! Partial duplication of chromosome 4 property_value: alternative:term "Partial duplication of chromosome 4q" xsd:string property_value: alternative:term "Partial trisomy of chromosome 4q" xsd:string property_value: alternative:term "Partial trisomy of the long arm of chromosome 4" xsd:string [Term] id: Orphanet:262869 name: Partial trisomy of the long arm of chromosome 5 is_a: Orphanet:262211 ! Partial trisomy/tetrasomy of chromosome 5 property_value: alternative:term "Partial duplication of chromosome 5q" xsd:string property_value: alternative:term "Partial duplication of the long arm of chromosome 5" xsd:string property_value: alternative:term "Partial trisomy of chromosome 5q" xsd:string [Term] id: Orphanet:262878 name: Partial duplication of the long arm of chromosome 6 is_a: Orphanet:262628 ! Partial duplication of chromosome 6 property_value: alternative:term "Partial duplication of chromosome 6q" xsd:string property_value: alternative:term "Partial trisomy of chromosome 6q" xsd:string property_value: alternative:term "Partial trisomy of the long arm of chromosome 6" xsd:string [Term] id: Orphanet:262887 name: Partial duplication of the long arm of chromosome 7 is_a: Orphanet:262633 ! Partial duplication of chromosome 7 property_value: alternative:term "Partial duplication of chromosome 7q" xsd:string property_value: alternative:term "Partial trisomy of chromosome 7q" xsd:string property_value: alternative:term "Partial trisomy of the long arm of chromosome 7" xsd:string [Term] id: Orphanet:262896 name: Partial duplication of the long arm of chromosome 8 is_a: Orphanet:262638 ! Partial duplication of chromosome 8 property_value: alternative:term "Partial duplication of chromosome 8q" xsd:string property_value: alternative:term "Partial trisomy of chromosome 8q" xsd:string property_value: alternative:term "Partial trisomy of the long arm of chromosome 8" xsd:string [Term] id: Orphanet:262905 name: Partial trisomy of the long arm of chromosome 9 is_a: Orphanet:262643 ! Partial trisomy/tetrasomy of chromosome 9 property_value: alternative:term "Partial duplication of chromosome 9q" xsd:string property_value: alternative:term "Partial duplication of the long arm of chromosome 9" xsd:string property_value: alternative:term "Partial trisomy of chromosome 9q" xsd:string [Term] id: Orphanet:262914 name: Partial duplication of the long arm of chromosome 10 is_a: Orphanet:262648 ! Partial duplication of chromosome 10 property_value: alternative:term "Partial duplication of chromosome 10q" xsd:string property_value: alternative:term "Partial trisomy of chromosome 10q" xsd:string property_value: alternative:term "Partial trisomy of the long arm of chromosome 10" xsd:string [Term] id: Orphanet:262923 name: Partial duplication of the long arm of chromosome 11 is_a: Orphanet:262653 ! Partial duplication of chromosome 11 property_value: alternative:term "Partial duplication of chromosome 11q" xsd:string property_value: alternative:term "Partial trisomy of chromosome 11q" xsd:string property_value: alternative:term "Partial trisomy of the long arm of chromosome 11" xsd:string [Term] id: Orphanet:262932 name: Partial duplication of the long arm of chromosome 13 is_a: Orphanet:98132 ! Partial autosomal trisomy/tetrasomy property_value: alternative:term "Partial duplication of chromosome 13q" xsd:string property_value: alternative:term "Partial trisomy of chromosome 13q" xsd:string property_value: alternative:term "Partial trisomy of the long arm of chromosome 13" xsd:string [Term] id: Orphanet:262941 name: Partial duplication of the long arm of chromosome 14 is_a: Orphanet:98132 ! Partial autosomal trisomy/tetrasomy property_value: alternative:term "Partial duplication of chromosome 14q" xsd:string property_value: alternative:term "Partial trisomy of chromosome 14q" xsd:string property_value: alternative:term "Partial trisomy of the long arm of chromosome 14" xsd:string [Term] id: Orphanet:262950 name: Partial duplication of the long arm of chromosome 15 is_a: Orphanet:98132 ! Partial autosomal trisomy/tetrasomy property_value: alternative:term "Partial duplication of chromosome 15q" xsd:string property_value: alternative:term "Partial trisomy of chromosome 15q" xsd:string property_value: alternative:term "Partial trisomy of the long arm of chromosome 15" xsd:string [Term] id: Orphanet:262959 name: Partial trisomy of the long arm of chromosome 16 is_a: Orphanet:262672 ! Partial duplication of chromosome 16 property_value: alternative:term "Partial duplication of chromosome 16q" xsd:string property_value: alternative:term "Partial duplication of the long arm of chromosome 16" xsd:string property_value: alternative:term "Partial trisomy of chromosome 16q" xsd:string [Term] id: Orphanet:262968 name: Partial duplication of the long arm of chromosome 17 is_a: Orphanet:262677 ! Partial duplication of chromosome 17 property_value: alternative:term "Partial duplication of chromosome 17q" xsd:string property_value: alternative:term "Partial trisomy of chromosome 17q" xsd:string property_value: alternative:term "Partial trisomy of the long arm of chromosome 17" xsd:string [Term] id: Orphanet:262977 name: Partial trisomy of the long arm of chromosome 18 is_a: Orphanet:262682 ! Partial trisomy/tetrasomy of chromosome 18 property_value: alternative:term "Partial duplication of chromosome 18q" xsd:string property_value: alternative:term "Partial duplication of the long arm of chromosome 18" xsd:string property_value: alternative:term "Partial trisomy of chromosome 18q" xsd:string [Term] id: Orphanet:262986 name: Partial duplication of the long arm of chromosome 19 is_a: Orphanet:262687 ! Partial duplication of chromosome 19 property_value: alternative:term "Partial duplication of chromosome 19q" xsd:string property_value: alternative:term "Partial trisomy of chromosome 19q" xsd:string property_value: alternative:term "Partial trisomy of the long arm of chromosome 19" xsd:string [Term] id: Orphanet:262995 name: Partial trisomy of the long arm of chromosome 20 is_a: Orphanet:262692 ! Partial trisomy of chromosome 20 property_value: alternative:term "Partial duplication of chromosome 20q" xsd:string property_value: alternative:term "Partial duplication of the long arm of chromosome 20" xsd:string property_value: alternative:term "Partial trisomy of chromosome 20q" xsd:string [Term] id: Orphanet:263 name: Limb-girdle muscular dystrophy xref: ICD10:G71.0 xref: MESH:D049288 xref: SNOMED CT:93153005 xref: UMLS:C0686353 is_a: Orphanet:206644 ! Progressive muscular dystrophy property_value: alternative:term "LGMD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophy characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD." xsd:string [Term] id: Orphanet:263004 name: Partial duplication of the long arm of chromosome 22 is_a: Orphanet:98132 ! Partial autosomal trisomy/tetrasomy property_value: alternative:term "Partial duplication of chromosome 22q" xsd:string property_value: alternative:term "Partial trisomy of chromosome 22q" xsd:string property_value: alternative:term "Partial trisomy of the long arm of chromosome 22" xsd:string [Term] id: Orphanet:2631 name: Mesomelic dwarfism - cleft palate - camptodactyly xref: ICD10:Q78.8 xref: OMIM:249710 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:93438 ! Mesomelic and rhizo-mesomelic dysplasia property_value: alternative:term "Reardon-Hall-Slaney syndrome" xsd:string [Term] id: Orphanet:2632 name: Langer mesomelic dysplasia xref: ICD10:Q87.1 xref: MESH:C537267 xref: OMIM:249700 xref: SNOMED CT:38494008 xref: UMLS:C0432230 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93438 ! Mesomelic and rhizo-mesomelic dysplasia property_value: alternative:term "Mesomelic dwarfism, Langer type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs." xsd:string [Term] id: Orphanet:263297 name: Glycogen storage disease due to glycogenin deficiency xref: ICD10:E74.0 xref: OMIM:613507 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206959 ! Muscular glycogenosis relationship: part_of Orphanet:79201 ! Glycogen storage disease property_value: alternative:term "Glycogen storage disease type 15" xsd:string property_value: alternative:term "Glycogen storage disease type XV" xsd:string property_value: alternative:term "Glycogenosis due to glycogenin deficiency" xsd:string property_value: alternative:term "Glycogenosis type 15" xsd:string property_value: alternative:term "Glycogenosis type XV" xsd:string property_value: alternative:term "GSD due to glycogenin deficiency" xsd:string property_value: alternative:term "GSD type 15" xsd:string property_value: alternative:term "GSD type XV" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle." xsd:string [Term] id: Orphanet:2633 name: Mesomelic dwarfism, Nievergelt type xref: ICD10:Q78.8 xref: OMIM:163400 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:93438 ! Mesomelic and rhizo-mesomelic dysplasia property_value: alternative:term "Nievergelt syndrome" xsd:string [Term] id: Orphanet:263310 name: Thymoma type A xref: ICD10:C37 xref: ICD10:D15.0 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:99867 ! Thymoma property_value: alternative:term "Primary thymic epithelial neoplasm type A" xsd:string property_value: alternative:term "Primary thymic epithelial tumor type A" xsd:string [Term] id: Orphanet:263317 name: Thymoma type B xref: ICD10:C37 xref: ICD10:D15.0 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:99867 ! Thymoma property_value: alternative:term "Primary thymic epithelial neoplasm type B" xsd:string property_value: alternative:term "Primary thymic epithelial tumor type B" xsd:string [Term] id: Orphanet:263324 name: Thymoma type AB xref: ICD10:C37 xref: ICD10:D15.0 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:99867 ! Thymoma property_value: alternative:term "Primary thymic epithelial neoplasm type AB" xsd:string property_value: alternative:term "Primary thymic epithelial tumor type AB" xsd:string [Term] id: Orphanet:263331 name: Well-differentiated thymic neuroendocrine carcinoma xref: ICD10:C37 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:99869 ! Thymic neuroendocrine carcinoma [Term] id: Orphanet:263335 name: Moderately-differentiated thymic neuroendocrine carcinoma xref: ICD10:C37 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:99869 ! Thymic neuroendocrine carcinoma [Term] id: Orphanet:263339 name: Poorly-differentiated thymic neuroendocrine carcinoma xref: ICD10:C37 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:99869 ! Thymic neuroendocrine carcinoma [Term] id: Orphanet:263347 name: MRCS syndrome xref: OMIM:193220 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:71862 ! Retinal dystrophy relationship: part_of Orphanet:98641 ! Syndromic cataract property_value: alternative:term "Microcornea - rod-cone dystrophy - cataract - posterior staphyloma" xsd:string [Term] id: Orphanet:263355 name: ATR-X-related syndrome is_a: Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit is_a: Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:2634 name: Mesomelic dwarfism, Reinhardt-Pfeiffer type xref: ICD10:Q78.8 xref: MESH:C537349 xref: OMIM:191400 xref: UMLS:C1860616 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93438 ! Mesomelic and rhizo-mesomelic dysplasia property_value: alternative:term "Reinhardt-Pfeiffer mesomelic dysplasia" xsd:string property_value: alternative:term "Reinhardt-Pfeiffer syndrome" xsd:string [Term] id: Orphanet:263410 name: Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:298644 ! Disorder of thiamin metabolism and transport [Term] id: Orphanet:263413 name: Angiosarcoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:3394 ! Soft tissue sarcoma [Term] id: Orphanet:263417 name: Bartter syndrome with hypocalcemia xref: ICD10:E26.8 xref: OMIM:601198 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:112 ! Bartter syndrome property_value: alternative:term "Bartter syndrome type 5" xsd:string property_value: alternative:term "Bartter syndrome type V" xsd:string [Term] id: Orphanet:263425 name: Nevus of Ota xref: ICD10:D22.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:294057 ! Rare nevus property_value: alternative:term "Nevus fusculoceruleus ophthalmomaxillaris" xsd:string [Term] id: Orphanet:263432 name: Nevus of Ito xref: ICD10:D22.6 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:294057 ! Rare nevus [Term] id: Orphanet:263435 name: Congenital smooth muscle hamartoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma [Term] id: Orphanet:263440 name: Neuroacanthocytosis is_a: Orphanet:158266 ! Huntington disease-like syndrome is_a: Orphanet:306695 ! Miscellaneous movement disorder due to neurodegenerative disease is_a: Orphanet:307058 ! Miscellaneous movement disorder due to genetic neurodegenerative disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia." xsd:string [Term] id: Orphanet:263455 name: Hyperinsulinism due to HNF4A deficiency xref: ICD10:E16.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:165985 ! Diazoxide-sensitive diffuse hyperinsulinism property_value: alternative:term "Hyperinsulinemic hypoglycemia due to HNF4A deficiency" xsd:string [Term] id: Orphanet:263458 name: Hyperinsulinism due to INSR deficiency xref: ICD10:E16.1 xref: OMIM:609968 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:276525 ! Familial hyperinsulinism property_value: alternative:term "Hyperinsulinemic hypoglycemia due to INSR deficiency" xsd:string property_value: alternative:term "Hyperinsulinemic hypoglycemia due to insulin receptor deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset." xsd:string [Term] id: Orphanet:263463 name: CHST3-related skeletal dysplasia xref: ICD10:Q74.8 xref: OMIM:143095 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309450 ! Disorder of O-xylosylglycan synthesis relationship: part_of Orphanet:371195 ! Congenital disorder of glycosylation-related bone disorder relationship: part_of Orphanet:93441 ! Primary bone dysplasia with multiple joint dislocations property_value: alternative:term "Autosomal recessive Larsen syndrome" xsd:string property_value: alternative:term "Chondrodysplasia with congenital joint dislocations, CHST3 type" xsd:string property_value: alternative:term "SDCD, CHST3 type" xsd:string property_value: alternative:term "Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type" xsd:string [Term] id: Orphanet:263479 name: Fuchs heterochromic iridocyclitis xref: ICD10:H20.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:306648 ! Non-infectious anterior uveitis property_value: alternative:term "FHI" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities." xsd:string [Term] id: Orphanet:26348 name: Acquired prothrombin deficiency xref: ICD10:D68.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:166775 ! Rare hemorrhagic disorder due to an acquired coagulation factor defect property_value: alternative:term "Acquired hypoprothrombinemia" xsd:string [Term] id: Orphanet:263482 name: Spondyloepiphyseal dysplasia, Maroteaux type xref: ICD10:Q77.7 xref: OMIM:184095 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:364820 ! TRPV4-related bone disorder property_value: alternative:term "Pseudo-Morquio syndrome type 2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis." xsd:string [Term] id: Orphanet:263487 name: COG5-CDG xref: ICD10:E77.8 xref: OMIM:613612 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309568 ! Defect in conserved oligomeric Golgi complex relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type IIi" xsd:string property_value: alternative:term "CDG syndrome type IIi" xsd:string property_value: alternative:term "CDG-IIi" xsd:string property_value: alternative:term "CDG2I" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type IIi" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia." xsd:string [Term] id: Orphanet:26349 name: Protein S acquired deficiency xref: ICD10:D68.8 xref: MEDDRA:10068370 xref: OMIM:612336 xref: UMLS:C2363755 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:248365 ! Rare thrombotic disorder due to an acquired coagulation factors defect [Term] id: Orphanet:263494 name: DPM3-CDG xref: ICD10:E77.8 xref: OMIM:612937 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309526 ! Disorder of multiple glycosylation relationship: part_of Orphanet:370953 ! Congenital muscular dystrophy due to dystroglycanopathy relationship: part_of Orphanet:371047 ! Congenital disorder of glycosylation with neurological involvement relationship: part_of Orphanet:371176 ! Congenital disorder of glycosylation with dilated cardiomyopathy property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type Io" xsd:string property_value: alternative:term "CDG syndrome type Io" xsd:string property_value: alternative:term "CDG-Io" xsd:string property_value: alternative:term "CDG1O" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type Io" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital disorder of glycosylation type 1o (CDG-Io) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait, and dilated cardiomyopathy." xsd:string [Term] id: Orphanet:2635 name: Metatropic dysplasia xref: ICD10:Q77.8 xref: MESH:C537356 xref: OMIM:156530 xref: SNOMED CT:22764001 xref: UMLS:C0265281 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:364820 ! TRPV4-related bone disorder property_value: alternative:term "Metatropic dwarfism" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood." xsd:string [Term] id: Orphanet:263501 name: COG4-CDG xref: ICD10:E77.8 xref: OMIM:613489 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309568 ! Defect in conserved oligomeric Golgi complex relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature relationship: part_of Orphanet:371157 ! Congenital disorder of glycosylation with hepatic involvement property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type IIj" xsd:string property_value: alternative:term "CDG syndrome type IIj" xsd:string property_value: alternative:term "CDG-IIj" xsd:string property_value: alternative:term "CDG2J" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type IIj" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia." xsd:string [Term] id: Orphanet:263508 name: COG1-CDG xref: ICD10:E77.8 xref: OMIM:611209 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309568 ! Defect in conserved oligomeric Golgi complex relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371183 ! Congenital disorder of glycosylation with cardiac malformation as a major feature relationship: part_of Orphanet:371195 ! Congenital disorder of glycosylation-related bone disorder relationship: part_of Orphanet:371212 ! Congenital disorder of glycosylation with deafness as a major feature relationship: part_of Orphanet:93454 ! Dysostosis with predominant vertebral and costal involvement property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type IIg" xsd:string property_value: alternative:term "CDG syndrome type IIg" xsd:string property_value: alternative:term "CDG-IIg" xsd:string property_value: alternative:term "CDG2G" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type IIg" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital disorder of glycosylation type IIg (CDG-IIg) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation, and variable facial dysmorphism." xsd:string [Term] id: Orphanet:263516 name: Progressive myoclonic epilepsy type 3 xref: ICD10:G40.3 xref: OMIM:611726 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:216 ! Neuronal ceroid lipofuscinosis relationship: part_of Orphanet:371047 ! Congenital disorder of glycosylation with neurological involvement relationship: part_of Orphanet:98261 ! Progressive myoclonic epilepsy property_value: alternative:term "Progressive myoclonic epilepsy due to KCTD7 deficiency" xsd:string [Term] id: Orphanet:263524 name: Acute necrotizing encephalopathy of childhood xref: ICD10:G31.8 xref: OMIM:614212 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98252 ! Infectious encephalitis property_value: alternative:term "ANEC" xsd:string property_value: alternative:term "Isolated acute necrotizing encephalopathy" xsd:string property_value: alternative:term "Isolated ANE" xsd:string [Term] id: Orphanet:263534 name: Acral peeling skin syndrome xref: ICD10:Q80.8 xref: OMIM:609796 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:817 ! Peeling skin syndrome property_value: alternative:term "Acral deciduous skin" xsd:string property_value: alternative:term "Acral PSS" xsd:string property_value: alternative:term "Localized deciduous skin" xsd:string property_value: alternative:term "Localized PSS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acral peeling skin syndrome (PSS) is a form of PSS (see this term) characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet." xsd:string [Term] id: Orphanet:263543 name: Generalized peeling skin syndrome xref: ICD10:Q80.8 xref: OMIM:270300 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:817 ! Peeling skin syndrome property_value: alternative:term "Generalized deciduous skin" xsd:string property_value: alternative:term "Generalized PSS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Generalized peeling skin syndrome (PSS) is a form of PSS (see this term) presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form (see these terms). PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy." xsd:string [Term] id: Orphanet:263548 name: Peeling skin syndrome type A xref: ICD10:Q80.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:263543 ! Generalized peeling skin syndrome property_value: alternative:term "Generalized deciduous skin type A" xsd:string property_value: alternative:term "Generalized peeling skin syndrome type A" xsd:string property_value: alternative:term "Non-inflammatory generalized peeling skin syndrome type A." xsd:string property_value: alternative:term "Non-inflammatory peeling skin syndrome type A" xsd:string property_value: alternative:term "PSS type A" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS (see this term), a type of ichthyosis (see this term), characterized by generalized white scaling and superficial painless peeling of the skin." xsd:string [Term] id: Orphanet:263553 name: Peeling skin syndrome type B xref: ICD10:Q80.8 xref: OMIM:270300 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:263543 ! Generalized peeling skin syndrome property_value: alternative:term "Generalized deciduous skin type B" xsd:string property_value: alternative:term "Generalized peeling skin syndrome type B" xsd:string property_value: alternative:term "Inflammatory peeling skin syndrome" xsd:string property_value: alternative:term "PSS type B" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Peeling skin syndrome (PSS) type B, also known as peeling skin disease (PSD), is a rare inflammatory form of ichthyosis (see this term) characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy." xsd:string [Term] id: Orphanet:263558 name: Generalized peeling skin syndrome type C xref: ICD10:Q80.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:263543 ! Generalized peeling skin syndrome property_value: alternative:term "Generalized deciduous skin type C" xsd:string [Term] id: Orphanet:2636 name: Microcephalic osteodysplastic primordial dwarfism types 1 and 3 xref: ICD10:Q87.1 xref: OMIM:210710 xref: OMIM:210730 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:324761 ! Microcephalic primordial dwarfism property_value: alternative:term "Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type" xsd:string property_value: alternative:term "MOPD types I and III" xsd:string property_value: alternative:term "Primordial microcephalic dwarfism, Crachami type" xsd:string property_value: alternative:term "Taybi-Linder syndrome" xsd:string [Term] id: Orphanet:263662 name: Familial multiple meningioma xref: OMIM:607174 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:252025 ! Tumor of the meninges [Term] id: Orphanet:263665 name: NK-cell enteropathy is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101936 ! Rare gastro-esophageal disease relationship: part_of Orphanet:117569 ! Rare intestinal disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma (see these terms)." xsd:string [Term] id: Orphanet:263676 name: Hereditary epidermolysis bullosa associated with ocular features is_a: Orphanet:98696 ! Genodermatosis with ocular features [Term] id: Orphanet:2637 name: Microcephalic osteodysplastic primordial dwarfism type 2 xref: ICD10:Q87.1 xref: OMIM:210720 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:324761 ! Microcephalic primordial dwarfism property_value: alternative:term "MOPD type II" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a form of primordial dwarfism, characterized by severe pre- and postnatal growth retardation, severe microcephaly in adulthood and bone dysplasia." xsd:string [Term] id: Orphanet:263708 name: Complex chromosomal rearrangement is_a: Orphanet:98127 ! Autosomal anomaly [Term] id: Orphanet:263714 name: X chromosome number anomaly is_a: Orphanet:98156 ! Gonosomes number anomaly [Term] id: Orphanet:263717 name: X chromosome number anomaly with female phenotype is_a: Orphanet:263714 ! X chromosome number anomaly [Term] id: Orphanet:263720 name: X chromosome number anomaly with male phenotype is_a: Orphanet:263714 ! X chromosome number anomaly [Term] id: Orphanet:263723 name: Polysomy of X chromosome is_a: Orphanet:263717 ! X chromosome number anomaly with female phenotype [Term] id: Orphanet:263726 name: Partial deletion of chromosome X xref: ICD10:Q99.8 is_a: Orphanet:98159 ! Chromosome X structural anomaly property_value: alternative:term "Partial monosomy of chromosome X" xsd:string [Term] id: Orphanet:263731 name: Partial monosomy of the short arm of chromosome X xref: ICD10:Q99.8 is_a: Orphanet:263726 ! Partial deletion of chromosome X property_value: alternative:term "Partial duplication of chromosome Xp" xsd:string property_value: alternative:term "Partial duplication of the short arm of chromosome X" xsd:string property_value: alternative:term "Partial monosomy of chromosome Xp" xsd:string [Term] id: Orphanet:263746 name: Y chromosome number anomaly is_a: Orphanet:98156 ! Gonosomes number anomaly [Term] id: Orphanet:263749 name: X and Y chromosomal anomaly xref: ICD10:Q98.8 is_a: Orphanet:98156 ! Gonosomes number anomaly [Term] id: Orphanet:263756 name: Partial deletion of the long arm of chromosome X xref: ICD10:Q99.8 is_a: Orphanet:263726 ! Partial deletion of chromosome X property_value: alternative:term "Partial deletion of chromosome Xq" xsd:string property_value: alternative:term "Partial monosomy of chromosome Xq" xsd:string property_value: alternative:term "Partial monosomy of the short arm of chromosome X" xsd:string [Term] id: Orphanet:263765 name: v-myb avian myeloblastosis viral oncogene homolog xref: ENSEMBL:ENSG00000118513 xref: GENATLAS:MYB xref: HGNC:7545 xref: OMIM:189990 xref: REACTOME:P10242 xref: UNIPROTKB/SWISSPROT:P10242 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:86849 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Acute basophilic leukemia relationship: Orphanet:317348 Orphanet:99861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor T-cell acute lymphoblastic leukemia property_value: alternative:term "c-myb" xsd:string property_value: alternative:term "v-myb myeloblastosis viral oncogene homolog (avian)" xsd:string property_value: symbol "MYB" xsd:string [Term] id: Orphanet:263768 name: Partial duplication of chromosome X xref: ICD10:Q99.8 is_a: Orphanet:98159 ! Chromosome X structural anomaly property_value: alternative:term "Partial trisomy of chromosome X" xsd:string [Term] id: Orphanet:263775 name: Partial duplication of the short arm of chromosome X xref: ICD10:Q99.8 is_a: Orphanet:263768 ! Partial duplication of chromosome X property_value: alternative:term "Partial duplication of chromosome Xp" xsd:string property_value: alternative:term "Partial trisomy of chromosome Xp" xsd:string property_value: alternative:term "Partial trisomy of the short arm of chromosome X" xsd:string [Term] id: Orphanet:263783 name: Partial duplication of the long arm of chromosome X xref: ICD10:Q99.8 is_a: Orphanet:263768 ! Partial duplication of chromosome X property_value: alternative:term "Partial duplication of chromosome Xq" xsd:string property_value: alternative:term "Partial trisomy of chromosome Xq" xsd:string property_value: alternative:term "Partial trisomy of the long arm of chromosome X" xsd:string [Term] id: Orphanet:263793 name: Uniparental disomy of chromosome X xref: ICD10:Q99.8 is_a: Orphanet:98159 ! Chromosome X structural anomaly property_value: alternative:term "UPD(X)" xsd:string [Term] id: Orphanet:2639 name: Fibular aplasia - complex brachydactyly xref: ICD10:Q73.8 xref: OMIM:228900 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:93437 ! Acromesomelic dysplasia property_value: alternative:term "Du Pan syndrome" xsd:string [Term] id: Orphanet:264 name: Autosomal dominant limb-girdle muscular dystrophy type 1B xref: ICD10:G71.0 xref: OMIM:159001 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:102014 ! Autosomal dominant limb-girdle muscular dystrophy relationship: part_of Orphanet:217610 ! Neuromuscular disease with dilated cardiomyopathy property_value: alternative:term "LGMD1B" xsd:string property_value: alternative:term "Limb-girdle muscular dystrophy due to lamin A/C deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a limb girdle muscular dystrophy (LMGD; see this term)a laminopathy, characterized by progressive limb girdle weakness, usually affecting the pelvic girdle before humeral muscles, mild jointoint contractures, age-related atrioventricular cardiac conduction disturbances and dilated cardiomyopathyinvolvement is frequently associated." xsd:string [Term] id: Orphanet:2640 name: Short limb-dwarf lethal, McAlister-Crane type is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_56304 with label: Atelosteogenesis type II" xsd:string [Term] id: Orphanet:2641 name: Micromelic dwarfism, Fryns type xref: ICD10:Q77.8 xref: MESH:C537556 xref: OMIM:601096 xref: UMLS:C1832800 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:254 ! Spondylometaphyseal dysplasia [Term] id: Orphanet:264200 name: 14q22q23 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262110 ! Partial deletion of the long arm of chromosome 14 property_value: alternative:term "14q22-q23 microdeletion syndrome" xsd:string property_value: alternative:term "Del(14)(q22q23)" xsd:string property_value: alternative:term "Monosomy 14q22-q23" xsd:string property_value: alternative:term "Monosomy 14q22q23" xsd:string [Term] id: Orphanet:2643 name: Microcephalic primordial dwarfism, Toriello type xref: ICD10:Q87.1 xref: MESH:C537321 xref: OMIM:251190 xref: UMLS:C1855089 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:324761 ! Microcephalic primordial dwarfism [Term] id: Orphanet:264431 name: Partial duplication of the short arm of chromosome 1 is_a: Orphanet:262191 ! Partial duplication of chromosome 1 property_value: alternative:term "Partial duplication of chromosome 1p" xsd:string property_value: alternative:term "Partial trisomy of chromosome 1p" xsd:string [Term] id: Orphanet:264450 name: Trisomy 8p xref: ICD10:Q92.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262758 ! Partial duplication of the short arm of chromosome 8 property_value: alternative:term "Duplication 8p" xsd:string [Term] id: Orphanet:264482 name: hepatic and glial cell adhesion molecule xref: ENSEMBL:ENSG00000165478 xref: GENATLAS:HEPACAM xref: HGNC:26361 xref: OMIM:611642 xref: UNIPROTKB/SWISSPROT:Q14CZ8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Megalencephalic leukoencephalopathy with subcortical cysts property_value: alternative:term "FLJ25530" xsd:string property_value: alternative:term "glial cell adhesion molecule" xsd:string property_value: alternative:term "GLIALCAM" xsd:string property_value: alternative:term "hepaCAM" xsd:string property_value: alternative:term "hepatocyte cell adhesion molecule" xsd:string property_value: symbol "HEPACAM" xsd:string [Term] id: Orphanet:2645 name: Osteoglophonic dwarfism xref: ICD10:Q87.1 xref: MESH:C536050 xref: OMIM:166250 xref: SNOMED CT:254144002 xref: UMLS:C0432283 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components [Term] id: Orphanet:264501 name: lipase, family member N xref: ENSEMBL:ENSG00000204020 xref: GENATLAS:LIPN xref: HGNC:23452 xref: OMIM:613924 xref: UNIPROTKB/SWISSPROT:Q5VXI9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:313 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lamellar ichthyosis property_value: alternative:term "bA186O14.3" xsd:string property_value: alternative:term "lipase-like, ab-hydrolase domain containing 4" xsd:string property_value: alternative:term "LIPL4" xsd:string property_value: symbol "LIPN" xsd:string [Term] id: Orphanet:264580 name: Glycogen storage disease due to liver phosphorylase kinase deficiency xref: ICD10:E74.0 xref: OMIM:306000 xref: OMIM:613027 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:370 ! Glycogen storage disease due to phosphorylase kinase deficiency property_value: alternative:term "Glycogen storage disease type 9A" xsd:string property_value: alternative:term "Glycogen storage disease type 9C" xsd:string property_value: alternative:term "Glycogen storage disease type IXa" xsd:string property_value: alternative:term "Glycogen storage disease type IXc" xsd:string property_value: alternative:term "Glycogenosis due to liver phosphorylase kinase deficiency" xsd:string property_value: alternative:term "Glycogenosis type 9A" xsd:string property_value: alternative:term "Glycogenosis type 9C" xsd:string property_value: alternative:term "Glycogenosis type IXa" xsd:string property_value: alternative:term "Glycogenosis type IXc" xsd:string property_value: alternative:term "GSD due to liver phosphorylase kinase deficiency" xsd:string property_value: alternative:term "GSD type 9A" xsd:string property_value: alternative:term "GSD type 9C" xsd:string property_value: alternative:term "GSD type IXa" xsd:string property_value: alternative:term "GSD type IXc" xsd:string property_value: alternative:term "XLG" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." xsd:string [Term] id: Orphanet:2646 name: Parastremmatic dwarfism xref: ICD10:Q87.1 xref: MESH:C537172 xref: OMIM:168400 xref: SNOMED CT:254095002 xref: UMLS:C1868616 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:364820 ! TRPV4-related bone disorder relationship: part_of Orphanet:93439 ! Bent bone dysplasia [Term] id: Orphanet:264656 name: Interstitial lung disease specific to childhood is_a: Orphanet:182095 ! Interstitial lung disease property_value: alternative:term "ILD specific to childhood" xsd:string [Term] id: Orphanet:264663 name: cholinergic receptor, nicotinic, alpha 7 (neuronal) xref: ENSEMBL:ENSG00000175344 xref: GENATLAS:CHRNA7 xref: HGNC:1960 xref: IUPHAR:468 xref: OMIM:118511 xref: REACTOME:P36544 xref: UNIPROTKB/SWISSPROT:P36544 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:199318 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 15q13.3 microdeletion syndrome property_value: alternative:term "acetylcholine receptor, nicotinic, alpha 7 (neuronal)" xsd:string property_value: alternative:term "cholinergic receptor, nicotinic, alpha 7" xsd:string property_value: alternative:term "cholinergic receptor, nicotinic, alpha polypeptide 7" xsd:string property_value: symbol "CHRNA7" xsd:string [Term] id: Orphanet:264665 name: Primary interstitial lung disease specific to childhood is_a: Orphanet:264656 ! Interstitial lung disease specific to childhood property_value: alternative:term "Primary ILD specific to childhood" xsd:string [Term] id: Orphanet:264670 name: Primary interstitial lung disease specific to childhood due to alveolar structure disorder is_a: Orphanet:264665 ! Primary interstitial lung disease specific to childhood property_value: alternative:term "Primary ILD specific to childhood due to alveolar structure disorder" xsd:string [Term] id: Orphanet:264675 name: Congenital pulmonary alveolar proteinosis xref: ICD10:J84.0 xref: OMIM:265120 xref: OMIM:300770 xref: OMIM:610913 xref: OMIM:610921 xref: OMIM:614370 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:100049 ! Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies property_value: alternative:term "Congenital PAP" xsd:string [Term] id: Orphanet:264683 name: Primary interstitial lung disease specific to childhood due to alveolar vascular disorder is_a: Orphanet:264665 ! Primary interstitial lung disease specific to childhood property_value: alternative:term "Primary ILD specific to childhood due to alveolar vascular disorder" xsd:string [Term] id: Orphanet:264688 name: Congenital chylothorax xref: OMIM:603523 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:264683 ! Primary interstitial lung disease specific to childhood due to alveolar vascular disorder [Term] id: Orphanet:264691 name: Isolated pulmonary capillaritis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:264683 ! Primary interstitial lung disease specific to childhood due to alveolar vascular disorder property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative." xsd:string [Term] id: Orphanet:264694 name: Interstitial lung disease specific to infancy is_a: Orphanet:264665 ! Primary interstitial lung disease specific to childhood property_value: alternative:term "ILD specific to infancy" xsd:string [Term] id: Orphanet:264699 name: Secondary interstitial lung disease specific to childhood associated with a systemic disease is_a: Orphanet:264656 ! Interstitial lung disease specific to childhood property_value: alternative:term "Secondary ILD specific to childhood associated with a systemic disease" xsd:string [Term] id: Orphanet:264704 name: Secondary interstitial lung disease specific to childhood associated with a connective tissue disease is_a: Orphanet:264699 ! Secondary interstitial lung disease specific to childhood associated with a systemic disease property_value: alternative:term "Secondary ILD specific to childhood associated with a connective tissue disease" xsd:string [Term] id: Orphanet:264709 name: Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis is_a: Orphanet:264699 ! Secondary interstitial lung disease specific to childhood associated with a systemic disease property_value: alternative:term "Secondary ILD specific to childhood associated with a systemic vasculitis" xsd:string [Term] id: Orphanet:264714 name: Secondary interstitial lung disease specific to childhood associated with a granulomatous disease is_a: Orphanet:264699 ! Secondary interstitial lung disease specific to childhood associated with a systemic disease property_value: alternative:term "Secondary ILD specific to childhood associated with a granulomatous disease" xsd:string [Term] id: Orphanet:264719 name: Secondary interstitial lung disease specific to childhood associated with a metabolic disease is_a: Orphanet:264699 ! Secondary interstitial lung disease specific to childhood associated with a systemic disease property_value: alternative:term "Secondary ILD specific to childhood associated with a metabolic disease" xsd:string [Term] id: Orphanet:264724 name: Langerhans cell histiocytosis specific to childhood is_a: Orphanet:264699 ! Secondary interstitial lung disease specific to childhood associated with a systemic disease property_value: alternative:term "Histiocytosis X specific to childhood" xsd:string property_value: alternative:term "Langerhans cell granulomatosis specific to childhood" xsd:string [Term] id: Orphanet:264735 name: Interstitial lung disease specific to adulthood is_a: Orphanet:182095 ! Interstitial lung disease property_value: alternative:term "ILD specific to adulthood" xsd:string [Term] id: Orphanet:264740 name: Primary interstitial lung disease specific to adulthood is_a: Orphanet:264735 ! Interstitial lung disease specific to adulthood property_value: alternative:term "Primary ILD specific to adulthood" xsd:string [Term] id: Orphanet:264745 name: Secondary interstitial lung disease specific to adulthood associated with a systemic disease is_a: Orphanet:264735 ! Interstitial lung disease specific to adulthood property_value: alternative:term "Secondary ILD specific to adulthood associated with a systemic disease" xsd:string [Term] id: Orphanet:264750 name: Langerhans cell histiocytosis specific to adulthood is_a: Orphanet:264745 ! Secondary interstitial lung disease specific to adulthood associated with a systemic disease property_value: alternative:term "Histiocytosis X specific to adulthood" xsd:string property_value: alternative:term "Langerhans cell granulomatosis specific to adulthood" xsd:string [Term] id: Orphanet:264757 name: Interstitial lung disease in childhood and adulthood is_a: Orphanet:182095 ! Interstitial lung disease property_value: alternative:term "ILD in childhood and adulthood" xsd:string [Term] id: Orphanet:264762 name: Primary interstitial lung disease in childhood and adulthood is_a: Orphanet:264757 ! Interstitial lung disease in childhood and adulthood property_value: alternative:term "Primary ILD in childhood and adulthood" xsd:string [Term] id: Orphanet:2649 name: Short stature - intellectual deficit - eye anomalies - cleft lip/palate xref: OMIM:608578 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Richieri Costa-Guion Almeida syndrome" xsd:string [Term] id: Orphanet:264930 name: Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder is_a: Orphanet:264762 ! Primary interstitial lung disease in childhood and adulthood property_value: alternative:term "Primary ILD in childhood and adulthood due to alveolar structure disorder" xsd:string [Term] id: Orphanet:264935 name: Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder is_a: Orphanet:264762 ! Primary interstitial lung disease in childhood and adulthood property_value: alternative:term "Primary ILD in childhood and adulthood due to alveolar vascular disorder" xsd:string [Term] id: Orphanet:264944 name: Secondary interstitial lung disease in childhood and adulthood is_a: Orphanet:264757 ! Interstitial lung disease in childhood and adulthood property_value: alternative:term "Secondary ILD in childhood and adulthood" xsd:string [Term] id: Orphanet:264949 name: Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease is_a: Orphanet:264944 ! Secondary interstitial lung disease in childhood and adulthood property_value: alternative:term "Secondary ILD in childhood and adulthood associated with a systemic disease" xsd:string [Term] id: Orphanet:264955 name: Langerhans cell histiocytosis in childhood and adulthood is_a: Orphanet:264949 ! Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease property_value: alternative:term "Histiocytosis X in childhood and adulthood" xsd:string property_value: alternative:term "Langerhans cell granulomatosis in childhood and adulthood" xsd:string [Term] id: Orphanet:264968 name: Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease is_a: Orphanet:264949 ! Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease property_value: alternative:term "Secondary ILD in childhood and adulthood associated with a metabolic disease" xsd:string [Term] id: Orphanet:264973 name: Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis is_a: Orphanet:264949 ! Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease property_value: alternative:term "Secondary ILD in childhood and adulthood associated with a systemic vasculitis" xsd:string [Term] id: Orphanet:264978 name: Drug or radiation exposure-related interstitial lung disease xref: ICD10:J70 is_a: Orphanet:264984 ! Exposure-related interstitial lung disease [Term] id: Orphanet:264984 name: Exposure-related interstitial lung disease is_a: Orphanet:264944 ! Secondary interstitial lung disease in childhood and adulthood [Term] id: Orphanet:264992 name: Genetic interstitial lung disease is_a: Orphanet:156610 ! Rare genetic respiratory disease property_value: alternative:term "Genetic ILD" xsd:string [Term] id: Orphanet:265 name: Autosomal dominant limb-girdle muscular dystrophy type 1C xref: ICD10:G71.0 xref: OMIM:607801 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102014 ! Autosomal dominant limb-girdle muscular dystrophy relationship: part_of Orphanet:207078 ! Qualitative or quantitative defects of caveolin-3 property_value: alternative:term "LGMD1C" xsd:string property_value: alternative:term "Limb-girdle muscular dystrophy due to caveolin-3 deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a limb girdle muscular dystrophy (LGMD; see this term) caveolinopathy characterized by weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement." xsd:string [Term] id: Orphanet:2650 name: Dwarfism - intellectual deficit - eye abnormality xref: ICD10:Q87.1 xref: OMIM:223540 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Mollica-Pavone-Antener syndrome" xsd:string [Term] id: Orphanet:265147 name: protease, serine, 56 xref: ENSEMBL:ENSG00000237412 xref: GENATLAS:PRSS56 xref: HGNC:39433 xref: OMIM:613858 xref: UNIPROTKB/SWISSPROT:P0CW18 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2542 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated anophthalmia - microphthalmia property_value: symbol "PRSS56" xsd:string [Term] id: Orphanet:265161 name: forkhead box D3 xref: ENSEMBL:ENSG00000187140 xref: GENATLAS:FOXD3 xref: HGNC:3804 xref: OMIM:611539 xref: UNIPROTKB/SWISSPROT:Q9UJU5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:247871 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Vitiligo-associated autoimmune disease property_value: alternative:term "Genesis" xsd:string property_value: alternative:term "HFH2" xsd:string property_value: symbol "FOXD3" xsd:string [Term] id: Orphanet:265258 name: RNA, U4atac small nuclear (U12-dependent splicing) xref: ENSEMBL:ENSG00000208506 xref: GENATLAS:RNU4ATAC xref: HGNC:34016 xref: OMIM:601428 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2636 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microcephalic osteodysplastic primordial dwarfism types 1 and 3 property_value: alternative:term "RNU4ATAC1" xsd:string property_value: symbol "RNU4ATAC" xsd:string [Term] id: Orphanet:2653 name: Osteochondrodysplatic nanism - deafness - retinitis pigmentosa is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa property_value: alternative:term "Osteochondrodysplatic dwarfism - deafness - retinitis pigmentosa" xsd:string [Term] id: Orphanet:2654 name: Syndesmodysplasic dwarfism is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_1159 with label: Progressive pseudorheumatoid arthropathy of childhood" xsd:string [Term] id: Orphanet:265457 name: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa xref: ENSEMBL:ENSG00000130414 xref: GENATLAS:NDUFA10 xref: HGNC:7684 xref: OMIM:603835 xref: REACTOME:O95299 xref: UNIPROTKB/SWISSPROT:O95299 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:255241 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with leukodystrophy property_value: alternative:term "CI-42k" xsd:string property_value: alternative:term "complex I 42kDa subunit" xsd:string property_value: alternative:term "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)" xsd:string property_value: symbol "NDUFA10" xsd:string [Term] id: Orphanet:265487 name: dpy-19-like 2 (C. elegans) xref: ENSEMBL:ENSG00000177990 xref: GENATLAS:DPY19L2 xref: HGNC:19414 xref: OMIM:613893 xref: UNIPROTKB/SWISSPROT:Q6NUT2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171709 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Globozoospermia property_value: alternative:term "FLJ32949" xsd:string property_value: alternative:term "SPATA34" xsd:string property_value: alternative:term "spermatogenesis associated 34" xsd:string property_value: symbol "DPY19L2" xsd:string [Term] id: Orphanet:265490 name: serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 xref: ENSEMBL:ENSG00000132386 xref: GENATLAS:SERPINF1 xref: HGNC:8824 xref: OMIM:172860 xref: UNIPROTKB/SWISSPROT:P36955 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:216812 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 3 property_value: alternative:term "EPC-1" xsd:string property_value: alternative:term "PEDF" xsd:string property_value: alternative:term "PIG35" xsd:string property_value: alternative:term "pigment epithelium-derived factor" xsd:string property_value: alternative:term "proliferation-inducing protein 35" xsd:string property_value: alternative:term "serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1" xsd:string property_value: symbol "SERPINF1" xsd:string [Term] id: Orphanet:265497 name: trans-2,3-enoyl-CoA reductase xref: ENSEMBL:ENSG00000099797 xref: GENATLAS:GPSN2 xref: HGNC:4551 xref: OMIM:610057 xref: REACTOME:Q9NZ01 xref: UNIPROTKB/SWISSPROT:Q9NZ01 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88616 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive nonsyndromic intellectual deficit property_value: alternative:term "glycoprotein, synaptic 2" xsd:string property_value: alternative:term "GPSN2" xsd:string property_value: alternative:term "SC2" xsd:string property_value: alternative:term "TER" xsd:string property_value: symbol "TECR" xsd:string [Term] id: Orphanet:2655 name: Thanatophoric dysplasia xref: ICD10:Q77.1 xref: MEDDRA:10049808 xref: OMIM:156830 xref: OMIM:187600 xref: OMIM:187601 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:364536 ! Primary bone dysplasia with micromelia relationship: part_of Orphanet:93420 ! FGFR3-related chondrodysplasia property_value: alternative:term "TD" xsd:string property_value: alternative:term "Thanatophoric dwarfism" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape." xsd:string [Term] id: Orphanet:265505 name: carcinoembryonic antigen-related cell adhesion molecule 16 xref: ENSEMBL:ENSG00000213892 xref: GENATLAS:CEACAM16 xref: HGNC:31948 xref: OMIM:614591 xref: UNIPROTKB/SWISSPROT:Q2WEN9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA property_value: symbol "CEACAM16" xsd:string [Term] id: Orphanet:265545 name: processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) xref: ENSEMBL:ENSG00000104356 xref: GENATLAS:POP1 xref: HGNC:30129 xref: OMIM:602486 xref: UNIPROTKB/SWISSPROT:Q99575 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93347 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Anauxetic dysplasia property_value: alternative:term "processing of precursors 1" xsd:string property_value: symbol "POP1" xsd:string [Term] id: Orphanet:2658 name: Lenz-Majewski hyperostotic dwarfism xref: ICD10:Q87.1 xref: MESH:C537115 xref: OMIM:151050 xref: SNOMED CT:1393001 xref: UMLS:C0432269 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis." xsd:string [Term] id: Orphanet:266 name: Autosomal dominant limb-girdle muscular dystrophy type 1A xref: ICD10:G71.0 xref: OMIM:159000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102014 ! Autosomal dominant limb-girdle muscular dystrophy relationship: part_of Orphanet:209224 ! Qualitative or quantitative defects of myotilin property_value: alternative:term "LGMD1A" xsd:string property_value: alternative:term "Limb-girdle muscular dystrophy due to myotilin deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a limb girdle muscular dystrophy (LMGD; see this term) a myotilinopathy, characterized by limb-girdle weakness in combination with dysarthria." xsd:string [Term] id: Orphanet:2661 name: Dwarfism - tall vertebrae is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_2616 with label: 3M syndrome" xsd:string [Term] id: Orphanet:266109 name: interleukin 17 receptor A xref: ENSEMBL:ENSG00000177663 xref: GENATLAS:IL17RA xref: HGNC:5985 xref: OMIM:605461 xref: UNIPROTKB/SWISSPROT:Q96F46 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chronic mucocutaneous candidiasis property_value: alternative:term "CD217" xsd:string property_value: alternative:term "CDw217" xsd:string property_value: alternative:term "hIL-17R" xsd:string property_value: alternative:term "IL-17RA" xsd:string property_value: alternative:term "IL17R" xsd:string property_value: alternative:term "interleukin 17 receptor" xsd:string property_value: symbol "IL17RA" xsd:string [Term] id: Orphanet:266117 name: interleukin 17F xref: ENSEMBL:ENSG00000112116 xref: GENATLAS:IL17F xref: HGNC:16404 xref: OMIM:606496 xref: UNIPROTKB/SWISSPROT:Q96PD4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chronic mucocutaneous candidiasis property_value: alternative:term "IL-17F" xsd:string property_value: alternative:term "ML-1" xsd:string property_value: alternative:term "ML1" xsd:string property_value: symbol "IL17F" xsd:string [Term] id: Orphanet:266126 name: glutamate receptor, ionotropic, N-methyl D-aspartate 2B xref: ENSEMBL:ENSG00000150086 xref: GENATLAS:GRIN2B xref: HGNC:4586 xref: IUPHAR:457 xref: OMIM:138252 xref: REACTOME:Q13224 xref: UNIPROTKB/SWISSPROT:Q13224 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178469 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic intellectual deficit property_value: alternative:term "GluN2B" xsd:string property_value: alternative:term "NMDAR2B" xsd:string property_value: symbol "GRIN2B" xsd:string [Term] id: Orphanet:266150 name: pre-mRNA processing factor 6 xref: ENSEMBL:ENSG00000101161 xref: GENATLAS:PRPF6 xref: HGNC:15860 xref: OMIM:613979 xref: REACTOME:O94906 xref: UNIPROTKB/SWISSPROT:O94906 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "ANT-1" xsd:string property_value: alternative:term "bB152O15.1" xsd:string property_value: alternative:term "C20orf14" xsd:string property_value: alternative:term "chromosome 20 open reading frame 14" xsd:string property_value: alternative:term "hPrp6" xsd:string property_value: alternative:term "Prp6" xsd:string property_value: alternative:term "PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "PRP6 pre-mRNA processing factor 6 homolog (yeast)" xsd:string property_value: alternative:term "SNRNP102" xsd:string property_value: alternative:term "TOM" xsd:string property_value: alternative:term "U5-102K" xsd:string property_value: symbol "PRPF6" xsd:string [Term] id: Orphanet:266162 name: WD repeat containing, antisense to TP53 xref: ENSEMBL:ENSG00000141499 xref: GENATLAS:WRAP53 xref: HGNC:25522 xref: OMIM:612661 xref: UNIPROTKB/SWISSPROT:Q9BUR4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1775 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dyskeratosis congenita property_value: alternative:term "FLJ10385" xsd:string property_value: alternative:term "TCAB1" xsd:string property_value: alternative:term "telomerase cajal body protein 1" xsd:string property_value: alternative:term "WD repeat domain 79" xsd:string property_value: alternative:term "WD-encoding RNA antisense to p53" xsd:string property_value: alternative:term "WDR79" xsd:string property_value: symbol "WRAP53" xsd:string [Term] id: Orphanet:266184 name: lysyl-tRNA synthetase xref: ENSEMBL:ENSG00000065427 xref: GENATLAS:KARS xref: HGNC:6215 xref: OMIM:601421 xref: REACTOME:Q15046 xref: UNIPROTKB/SWISSPROT:Q15046 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:254334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive intermediate Charcot-Marie-Tooth disease type B relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "Deafness, autosomal recessive 89" xsd:string property_value: alternative:term "DFNB89" xsd:string property_value: alternative:term "KARS1" xsd:string property_value: alternative:term "KARS2" xsd:string property_value: alternative:term "lysine tRNA ligase" xsd:string property_value: symbol "KARS" xsd:string [Term] id: Orphanet:2662 name: Keipert syndrome xref: ICD10:Q87.0 xref: OMIM:255980 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Nasodigitoacoustic syndrome" xsd:string [Term] id: Orphanet:2663 name: Nathalie syndrome xref: ICD10:Q87.8 xref: MESH:C538342 xref: OMIM:255990 xref: UMLS:C1850626 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:98641 ! Syndromic cataract property_value: alternative:term "Deafness - cataracts - skeletal anomalies" xsd:string [Term] id: Orphanet:2666 name: Adult familial nephronophtisis - spastic quadriparesia is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93587 ! Familial cystic renal disease [Term] id: Orphanet:2668 name: Nephropathy - deafness - hyperparathyroidism xref: ICD10:Q87.8 xref: MESH:C536401 xref: OMIM:256120 xref: UMLS:C1850553 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Edwards-Patton-Dilly syndrome" xsd:string [Term] id: Orphanet:2669 name: Nephrosis - deafness - urinary tract - digital malformations xref: ICD10:Q87.8 xref: MESH:C536402 xref: OMIM:256200 xref: UMLS:C1850552 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Braun-Bayer syndrome" xsd:string [Term] id: Orphanet:267 name: Autosomal recessive limb girdle muscular dystrophy type 2A xref: ICD10:G71.0 xref: OMIM:253600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102015 ! Autosomal recessive limb-girdle muscular dystrophy relationship: part_of Orphanet:207104 ! Qualitative or quantitative defects of calpain property_value: alternative:term "LGMD2A" xsd:string property_value: alternative:term "Limb girdle muscular dystrophy due to calpain deficiency" xsd:string property_value: alternative:term "Primary calpainopathy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a limb girdle muscular dystrophy (LMGD; see this term), characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances." xsd:string [Term] id: Orphanet:2670 name: Pierson syndrome xref: ICD10:N04.8 xref: MESH:C537185 xref: OMIM:609049 xref: UMLS:C1836876 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102373 ! Primary glomerular disease property_value: alternative:term "Microcoria - congenital nephrosis" xsd:string [Term] id: Orphanet:267088 name: Rho GTPase activating protein 31 xref: ENSEMBL:ENSG00000031081 xref: GENATLAS:ARHGAP31 xref: HGNC:29216 xref: OMIM:610911 xref: REACTOME:Q2M1Z3 xref: UNIPROTKB/SWISSPROT:Q2M1Z3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:974 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adams-Oliver syndrome property_value: alternative:term "CDGAP" xsd:string property_value: symbol "ARHGAP31" xsd:string [Term] id: Orphanet:2671 name: Neu-Laxova syndrome xref: ICD10:Q87.8 xref: MESH:C536405 xref: OMIM:256520 xref: SNOMED CT:77817004 xref: UMLS:C0265218 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102011 ! Lissencephaly type 3 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:281238 ! Autosomal ichthyosis syndrome with prominent neurologics signs [Term] id: Orphanet:267102 name: cytochrome c oxidase assembly factor 5 xref: ENSEMBL:ENSG00000183513 xref: GENATLAS:COA5 xref: HGNC:33848 xref: OMIM:613920 xref: UNIPROTKB/SWISSPROT:Q86WW8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:254905 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated cytochrome C oxidase deficiency relationship: Orphanet:317343 Orphanet:70474 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leigh syndrome with cardiomyopathy property_value: alternative:term "C2ORF64" xsd:string property_value: alternative:term "chromosome 2 open reading frame 64" xsd:string property_value: alternative:term "FLJ27524" xsd:string property_value: alternative:term "MGC52110" xsd:string property_value: alternative:term "Pet191" xsd:string property_value: symbol "COA5" xsd:string [Term] id: Orphanet:267232 name: mitochondrial ribosomal protein S16 xref: ENSEMBL:ENSG00000182180 xref: GENATLAS:MRPS16 xref: HGNC:14048 xref: OMIM:609204 xref: UNIPROTKB/SWISSPROT:Q9Y3D3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:254920 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined oxidative phosphorylation defect type 2 property_value: alternative:term "CGI-132" xsd:string property_value: symbol "MRPS16" xsd:string [Term] id: Orphanet:267235 name: Tu translation elongation factor, mitochondrial xref: ENSEMBL:ENSG00000178952 xref: GENATLAS:TUFM xref: HGNC:12420 xref: OMIM:602389 xref: UNIPROTKB/SWISSPROT:P49411 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:254925 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined oxidative phosphorylation defect type 4 property_value: alternative:term "EF-TuMT" xsd:string property_value: alternative:term "EFTU" xsd:string property_value: alternative:term "EFTu" xsd:string property_value: symbol "TUFM" xsd:string [Term] id: Orphanet:2673 name: Neurofaciodigitorenal syndrome xref: ICD10:Q87.8 xref: MESH:C537388 xref: OMIM:256690 xref: UMLS:C0796088 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Freire Maia-Pinheiro-Opitz syndrome" xsd:string [Term] id: Orphanet:267365 name: ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit xref: ENSEMBL:ENSG00000124172 xref: GENATLAS:ATP5E xref: HGNC:838 xref: OMIM:606153 xref: REACTOME:P56381 xref: UNIPROTKB/SWISSPROT:P56381 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:254913 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Isolated ATP synthase deficiency property_value: symbol "ATP5E" xsd:string [Term] id: Orphanet:2674 name: Cyprus facial-neuromusculoskeletal syndrome xref: ICD10:Q87.8 xref: MESH:C536229 xref: OMIM:123853 xref: UMLS:C1852396 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:206634 ! Genetic skeletal muscle disease relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit [Term] id: Orphanet:267449 name: mitochondrially encoded tRNA valine xref: ENSEMBL:ENSG00000210077 xref: GENATLAS:MT-TV xref: HGNC:7500 xref: OMIM:590105 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:255210 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited Leigh syndrome property_value: alternative:term "MTTV" xsd:string property_value: alternative:term "tRNA valine" xsd:string property_value: alternative:term "trnV" xsd:string property_value: symbol "MT-TV" xsd:string [Term] id: Orphanet:2675 name: Neuroaxonal dystrophy - renal tubular acidosis xref: MESH:C537386 xref: UMLS:C2931479 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:314822 ! Primary renal tubular acidosis property_value: alternative:term "Maccario-Mena syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Neuroaxonal dystrophy-renal tubular acidosis is a central nervous system disorder described in three siblings from one family to date and characterized by severe intellectual deficiency, hypotonia, and pyramidal tract signs along with a defect in urinary acidification and growth delay." xsd:string [Term] id: Orphanet:2676 name: Neuroectodermal-endocrine syndrome xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101956 ! Polyendocrinopathy relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183643 ! Genetic polyendocrinopathy relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Oerter-Friedman-Anderson syndrome" xsd:string [Term] id: Orphanet:2677 name: Neuroepithelioma xref: MESH:D018241 xref: OMIM:612219 xref: SNOMED CT:253096008 xref: SNOMED CT:55045006 xref: UMLS:C0027828 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:251852 ! Embryonal tumor of the neuroepithelial tissue [Term] id: Orphanet:2678 name: Neurofibromatosis type 6 xref: ICD10:L81.3 xref: OMIM:114030 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin property_value: alternative:term "Familial café-au-lait spots" xsd:string property_value: alternative:term "Multiple café-au-lait spots" xsd:string property_value: alternative:term "Multiple café-au-lait syndrome" xsd:string property_value: alternative:term "NF6" xsd:string [Term] id: Orphanet:2679 name: Infantile axonal neuropathy xref: ICD10:G60.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98497 ! Genetic peripheral neuropathy [Term] id: Orphanet:26790 name: Pseudomyxoma peritonei xref: ICD10:C78.6 xref: MEDDRA:10037138 xref: MESH:D011553 xref: SNOMED CT:112679004 xref: SNOMED CT:307601000 xref: UMLS:C0033822 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:168803 ! Primary peritoneal tumor property_value: alternative:term "Adenomucinosis" xsd:string property_value: alternative:term "Gelatinous ascites" xsd:string property_value: alternative:term "PMP" xsd:string [Term] id: Orphanet:26791 name: Glutaric acidemia type 2 xref: ICD10:E71.3 xref: OMIM:231680 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206953 ! Muscular lipidosis relationship: part_of Orphanet:217591 ! Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy relationship: part_of Orphanet:309120 ! Acyl-CoA dehydrogenase deficiency property_value: alternative:term "Electron transfer flavoprotein deficiency" xsd:string property_value: alternative:term "Electron transfer flavoprotein ubiquinone oxidoreductase deficiency" xsd:string property_value: alternative:term "ETFA deficiency" xsd:string property_value: alternative:term "ETFB deficiency" xsd:string property_value: alternative:term "ETFDH deficiency" xsd:string property_value: alternative:term "Glutaric aciduria type 2" xsd:string property_value: alternative:term "MAD deficiency" xsd:string property_value: alternative:term "MADD" xsd:string property_value: alternative:term "Multiple acyl-CoA dehydrogenase deficiency" xsd:string property_value: alternative:term "Multiple FAD dehydrogenase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Multiple FAD dehydrogenase deficiency, also known as glutaric aciduria type II, is a disorder of fatty acid oxidation, of branched aminoacids, lysine and glutaric acid. The enzymatic deficiency can be complete causing severe disorders in neonates, ot incomplete (Juvenile, adolescent or even adult forms) that are less severe, with progressive myocardiopathy or proximal myopathy." xsd:string [Term] id: Orphanet:26792 name: Short chain acyl-CoA dehydrogenase deficiency xref: ICD10:E71.3 xref: MESH:C537596 xref: OMIM:201470 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206953 ! Muscular lipidosis relationship: part_of Orphanet:309120 ! Acyl-CoA dehydrogenase deficiency property_value: alternative:term "SCAD deficiency" xsd:string property_value: alternative:term "SCADD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation and a form of acyl-CoA dehydrogenase (ACAD) deficiency characterized by a variable phenotype ranging from asymptomatic individuals to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy." xsd:string [Term] id: Orphanet:26793 name: Very long chain acyl-CoA dehydrogenase deficiency xref: ICD10:E71.3 xref: OMIM:201475 xref: SNOMED CT:237997005 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206953 ! Muscular lipidosis relationship: part_of Orphanet:217591 ! Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy relationship: part_of Orphanet:309120 ! Acyl-CoA dehydrogenase deficiency property_value: alternative:term "VLCAD deficiency" xsd:string property_value: alternative:term "VLCADD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis." xsd:string [Term] id: Orphanet:268 name: Autosomal recessive limb-girdle muscular dystrophy type 2B xref: ICD10:G71.0 xref: OMIM:253601 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:102015 ! Autosomal recessive limb-girdle muscular dystrophy relationship: part_of Orphanet:207073 ! Qualitative or quantitative defects of dysferlin property_value: alternative:term "LGMD2B" xsd:string property_value: alternative:term "Limb-girdle muscular dystrophy due to dysferlin deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a limb-girdle muscular dystrophy (LGMD; see this term), characterized by limb-girdle weakness and atrophy mostly in the shoulder pelvic girdle. Cardiac and respiratory muscles are not involved." xsd:string [Term] id: Orphanet:2680 name: Hypomyelination neuropathy - arthrogryposis is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:1037 ! Arthrogryposis multiplex congenita property_value: alternative:term "Boylan-Dew syndrome" xsd:string [Term] id: Orphanet:268016 name: RAB18, member RAS oncogene family xref: ENSEMBL:ENSG00000099246 xref: GENATLAS:RAB18 xref: HGNC:14244 xref: OMIM:602207 xref: UNIPROTKB/SWISSPROT:Q9NP72 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2510 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Micro syndrome property_value: symbol "RAB18" xsd:string [Term] id: Orphanet:268049 name: mucin 5B, oligomeric mucus/gel-forming xref: ENSEMBL:ENSG00000117983 xref: GENATLAS:MUC5B xref: HGNC:7516 xref: OMIM:600770 xref: REACTOME:Q9HC84 xref: UNIPROTKB/SWISSPROT:Q9HC84 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:171700 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Diffuse panbronchiolitis relationship: Orphanet:317345 Orphanet:2032 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic pulmonary fibrosis property_value: alternative:term "MG1" xsd:string property_value: alternative:term "MUC5" xsd:string property_value: alternative:term "mucin 5, subtype B, tracheobronchial" xsd:string property_value: symbol "MUC5B" xsd:string [Term] id: Orphanet:268052 name: histidyl-tRNA synthetase 2, mitochondrial xref: ENSEMBL:ENSG00000112855 xref: GENATLAS:HARS2 xref: HGNC:4817 xref: OMIM:600783 xref: REACTOME:P49590 xref: UNIPROTKB/SWISSPROT:P49590 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2855 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Perrault syndrome property_value: alternative:term "HARSL" xsd:string property_value: alternative:term "HARSR" xsd:string property_value: alternative:term "histidine tRNA ligase 2, mitochondrial (putative)" xsd:string property_value: alternative:term "histidyl-tRNA synthetase 2, mitochondrial (putative)" xsd:string property_value: alternative:term "histidyl-tRNA synthetase-like" xsd:string property_value: alternative:term "HO3" xsd:string property_value: symbol "HARS2" xsd:string [Term] id: Orphanet:268061 name: kinesin family member 7 xref: ENSEMBL:ENSG00000166813 xref: GENATLAS:KIF7 xref: HGNC:30497 xref: OMIM:611254 xref: UNIPROTKB/SWISSPROT:Q2M1P5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:166024 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple epiphyseal dysplasia, Al-Gazali type relationship: Orphanet:317343 Orphanet:2189 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hydrolethalus relationship: Orphanet:317343 Orphanet:220493 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with ocular defect relationship: Orphanet:317343 Orphanet:2754 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with orofaciodigital defect relationship: Orphanet:317343 Orphanet:36 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acrocallosal syndrome relationship: Orphanet:317343 Orphanet:475 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome property_value: alternative:term "JBTS12" xsd:string property_value: symbol "KIF7" xsd:string [Term] id: Orphanet:268073 name: uroplakin 3A xref: ENSEMBL:ENSG00000100373 xref: GENATLAS:UPK3A xref: HGNC:12580 xref: OMIM:611559 xref: UNIPROTKB/SWISSPROT:O75631 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1848 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bilateral renal agenesis property_value: alternative:term "UPK3" xsd:string property_value: alternative:term "Uroplakin 3" xsd:string property_value: symbol "UPK3A" xsd:string [Term] id: Orphanet:268087 name: dynein, axonemal, light chain 1 xref: ENSEMBL:ENSG00000119661 xref: GENATLAS:DNAL1 xref: HGNC:23247 xref: OMIM:610062 xref: UNIPROTKB/SWISSPROT:Q4LDG9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "1700010H15RiK" xsd:string property_value: alternative:term "C14orf168" xsd:string property_value: alternative:term "chromosome 14 open reading frame 168" xsd:string property_value: alternative:term "CILD16" xsd:string property_value: alternative:term "MGC12435" xsd:string property_value: symbol "DNAL1" xsd:string [Term] id: Orphanet:268103 name: zinc finger and BTB domain containing 24 xref: ENSEMBL:ENSG00000112365 xref: GENATLAS:ZBTB24 xref: HGNC:21143 xref: OMIM:614064 xref: UNIPROTKB/SWISSPROT:O43167 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2268 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! ICF syndrome property_value: alternative:term "BIF1" xsd:string property_value: alternative:term "KIAA0441" xsd:string property_value: alternative:term "PATZ2" xsd:string property_value: alternative:term "POZ (BTB) and AT hook containing zinc finger 2" xsd:string property_value: alternative:term "zinc finger protein 450" xsd:string property_value: alternative:term "ZNF450" xsd:string property_value: symbol "ZBTB24" xsd:string [Term] id: Orphanet:268114 name: RAS-associated autoimmune lymphoproliferative disease xref: ICD10:D72.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:169355 ! Immunodeficiency syndrome with autoimmunity relationship: part_of Orphanet:171898 ! Lymphoid hemopathy relationship: part_of Orphanet:238510 ! Lymphoproliferative syndrome property_value: alternative:term "ALPS type 4" xsd:string property_value: alternative:term "ALPS type IV" xsd:string property_value: alternative:term "Autoimmune lymphoproliferative syndrome type 4" xsd:string property_value: alternative:term "Autoimmune lymphoproliferative syndrome type IV" xsd:string property_value: alternative:term "RALD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "RAS-associated autoimmune leukoproliferativedisease (RALD) is a rare genetic disorder characterized bymonocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia." xsd:string [Term] id: Orphanet:268129 name: Spheroid body myopathy xref: ICD10:G71.8 xref: OMIM:182920 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:209224 ! Qualitative or quantitative defects of myotilin relationship: part_of Orphanet:593 ! Myofibrillar myopathy [Term] id: Orphanet:268139 name: Intraocular medulloepithelioma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101950 ! Rare eye tumor property_value: alternative:term "Orbital medulloepithelioma" xsd:string [Term] id: Orphanet:268145 name: Classic maple syrup urine disease xref: ICD10:E71.0 xref: OMIM:248600 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:511 ! Maple syrup urine disease property_value: alternative:term "Classic BCKD deficiency" xsd:string property_value: alternative:term "Classic branched-chain ketoacid dehydrogenase deficiency" xsd:string property_value: alternative:term "Classic branched-chain ketoaciduria" xsd:string property_value: alternative:term "Classic leucinosis" xsd:string property_value: alternative:term "Classic MSUD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Classic maple syrup urine disease (MSUD; see this term) is the most severe and common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated." xsd:string [Term] id: Orphanet:268162 name: Intermediate maple syrup urine disease xref: ICD10:E71.0 xref: OMIM:248600 xref: OMIM:615135 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:511 ! Maple syrup urine disease property_value: alternative:term "Intermediate BCKD deficiency" xsd:string property_value: alternative:term "Intermediate branched-chain ketoacid dehydrogenase deficiency" xsd:string property_value: alternative:term "Intermediate branched-chain ketoaciduria" xsd:string property_value: alternative:term "Intermediate leucinosis" xsd:string property_value: alternative:term "Intermediate MSUD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Intermediate maple syrup urine disease (MSUD; see this term) is a less severe form of MSUD characterized by maple syrup odor in cerumen, poor growth and feeding, developmental delays, irritability, and encephalopathy." xsd:string [Term] id: Orphanet:268173 name: Intermittent maple syrup urine disease xref: ICD10:E71.0 xref: OMIM:248600 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:511 ! Maple syrup urine disease property_value: alternative:term "Intermittent BCKD deficiency" xsd:string property_value: alternative:term "Intermittent branched-chain ketoacid dehydrogenase deficiency" xsd:string property_value: alternative:term "Intermittent branched-chain ketoaciduria" xsd:string property_value: alternative:term "Intermittent leucinosis" xsd:string property_value: alternative:term "Intermittent MSUD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Intermittent maple syrup urine disease (MSUD; see this term) is a type of MSUD where patients appear normal until an infection or other physiological stress causes an episode of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated." xsd:string [Term] id: Orphanet:268184 name: Thiamine-responsive maple syrup urine disease xref: ICD10:E71.0 xref: OMIM:248600 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:511 ! Maple syrup urine disease property_value: alternative:term "Thiamine-responsive BCKD deficiency" xsd:string property_value: alternative:term "Thiamine-responsive branched-chain ketoacid dehydrogenase deficiency" xsd:string property_value: alternative:term "Thiamine-responsive branched-chain ketoaciduria" xsd:string property_value: alternative:term "Thiamine-responsive leucinosis" xsd:string property_value: alternative:term "Thiamine-responsive MSUD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Thiamine-responsive maple syrup urine disease (MSUD; see this term) is a less severe variant of MSUD that responds positively to treatment with thiamin." xsd:string [Term] id: Orphanet:268249 name: Mycophenolate mofetil embryopathy xref: ICD10:Q86.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:251529 ! Toxic or drug-related embryofetopathy property_value: alternative:term "MMF embryopathy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation." xsd:string [Term] id: Orphanet:268261 name: 21q22.13q22.2 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262173 ! Partial deletion of the long arm of chromosome 21 property_value: alternative:term "21q22.13-q22.2 microdeletion syndrome" xsd:string property_value: alternative:term "Del(21)(q22.13q22.2)" xsd:string property_value: alternative:term "Monosomy 21q22.13-q22.2" xsd:string property_value: alternative:term "Monosomy 21q22.13q22.2" xsd:string [Term] id: Orphanet:268322 name: Hereditary thrombocytopenia with normal platelets xref: ICD10:D69.4 xref: OMIM:188000 xref: OMIM:273900 xref: OMIM:313900 xref: OMIM:612004 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:275729 ! Rare hemorrhagic disorder due to a constitutional thrombocytopenia [Term] id: Orphanet:268325 name: tet methylcytosine dioxygenase 2 xref: ENSEMBL:ENSG00000168769 xref: GENATLAS:TET2 xref: HGNC:25941 xref: OMIM:612839 xref: UNIPROTKB/SWISSPROT:Q6N021 is_a: Orphanet:C010 ! gene relationship: Orphanet:317344 Orphanet:3318 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Essential thrombocythemia relationship: Orphanet:317344 Orphanet:729 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Polycythemia vera relationship: Orphanet:317344 Orphanet:75564 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acquired idiopathic sideroblastic anemia relationship: Orphanet:317344 Orphanet:824 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myelofibrosis with myeloid metaplasia relationship: Orphanet:317344 Orphanet:86839 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Refractory anemia with excess blasts relationship: Orphanet:317344 Orphanet:86845 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Acute myeloid leukemia with multilineage dysplasia relationship: Orphanet:317344 Orphanet:98826 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Refractory anemia property_value: alternative:term "FLJ20032" xsd:string property_value: alternative:term "KIAA1546" xsd:string property_value: alternative:term "tet oncogene family member 2" xsd:string property_value: symbol "TET2" xsd:string [Term] id: Orphanet:268337 name: Autosomal recessive intermediate Charcot-Marie-Tooth disease xref: ICD10:G60.0 is_a: Orphanet:140450 ! Hereditary motor and sensory neuropathy is_a: Orphanet:166 ! Charcot-Marie-Tooth disease property_value: alternative:term "RI-CMT" xsd:string [Term] id: Orphanet:268343 name: potassium channel tetramerization domain containing 7 xref: ENSEMBL:ENSG00000243335 xref: GENATLAS:KCTD7 xref: HGNC:21957 xref: OMIM:611725 xref: UNIPROTKB/SWISSPROT:Q96MP8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:263516 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive myoclonic epilepsy type 3 property_value: alternative:term "CLN14" xsd:string property_value: alternative:term "EPM3" xsd:string property_value: alternative:term "FLJ32069" xsd:string property_value: alternative:term "potassium channel tetramerisation domain containing 7" xsd:string property_value: symbol "KCTD7" xsd:string [Term] id: Orphanet:268357 name: Neural tube closure defect xref: OMIM:182940 xref: OMIM:301410 xref: OMIM:601634 is_a: Orphanet:3388 ! Neural tube defect [Term] id: Orphanet:268363 name: Open iniencephaly xref: ICD10:Q00.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:63259 ! Iniencephaly [Term] id: Orphanet:268366 name: Closed iniencephaly xref: ICD10:Q00.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:63259 ! Iniencephaly [Term] id: Orphanet:268369 name: Spina bifida aperta xref: ICD10:Q05 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:823 ! Isolated spina bifida [Term] id: Orphanet:268377 name: Total spina bifida aperta is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268369 ! Spina bifida aperta [Term] id: Orphanet:268384 name: Thoracolumbosacral spina bifida aperta is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268369 ! Spina bifida aperta [Term] id: Orphanet:268388 name: Lumbosacral spina bifida aperta is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268369 ! Spina bifida aperta [Term] id: Orphanet:268392 name: Cervical spina bifida aperta is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268369 ! Spina bifida aperta [Term] id: Orphanet:268397 name: Cervicothoracic spina bifida aperta is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268369 ! Spina bifida aperta [Term] id: Orphanet:2686 name: Cyclic neutropenia xref: ICD10:D70 xref: MEDDRA:10053176 xref: MESH:C536227 xref: OMIM:162800 xref: SNOMED CT:191347008 xref: UMLS:C0221023 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:101987 ! Constitutional neutropenia [Term] id: Orphanet:2687 name: Neutropenia - hyperlymphocytosis with large granular lymphocytes is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_86872 with label: T-cell large granular lymphocyte leukemia" xsd:string [Term] id: Orphanet:268740 name: Upper thoracic spina bifida aperta is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268369 ! Spina bifida aperta [Term] id: Orphanet:268744 name: Spina bifida cystica is_a: Orphanet:823 ! Isolated spina bifida relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:268748 name: Total spina bifida cystica is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93969 ! Myelomeningocele [Term] id: Orphanet:268752 name: Thoracolumbosacral spina bifida cystica is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93969 ! Myelomeningocele [Term] id: Orphanet:268758 name: Lumbosacral spina bifida cystica is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93969 ! Myelomeningocele [Term] id: Orphanet:268762 name: Cervical spina bifida cystica is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93969 ! Myelomeningocele [Term] id: Orphanet:268766 name: Cervicothoracic spina bifida cystica is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93969 ! Myelomeningocele [Term] id: Orphanet:268770 name: Upper thoracic spina bifida cystica is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93969 ! Myelomeningocele [Term] id: Orphanet:268795 name: BRCA1/BRCA2-containing complex, subunit 3 xref: ENSEMBL:ENSG00000185515 xref: GENATLAS:BRCC3 xref: HGNC:24185 xref: OMIM:300617 xref: UNIPROTKB/SWISSPROT:P46736 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280679 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism property_value: alternative:term "BRCC36" xsd:string property_value: alternative:term "C6.1A" xsd:string property_value: alternative:term "chromosome X open reading frame 53" xsd:string property_value: alternative:term "CXorf53" xsd:string property_value: alternative:term "Lys-63-specific deubiquitinase" xsd:string property_value: symbol "BRCC3" xsd:string [Term] id: Orphanet:2688 name: Adult idiopathic neutropenia xref: ICD10:D70 xref: OMIM:607847 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:178996 ! Acquired neutropenia [Term] id: Orphanet:268803 name: small muscle protein, X-linked xref: ENSEMBL:ENSG00000091482 xref: GENATLAS:SMPX xref: HGNC:11122 xref: OMIM:300226 xref: UNIPROTKB/SWISSPROT:Q9UHP9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90625 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked nonsyndromic sensorineural deafness type DFN property_value: symbol "SMPX" xsd:string [Term] id: Orphanet:268810 name: Posterior meningocele xref: ICD10:Q05 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268744 ! Spina bifida cystica [Term] id: Orphanet:268813 name: Myelocystocele xref: ICD10:Q05 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268744 ! Spina bifida cystica [Term] id: Orphanet:268817 name: Cephalocele xref: ICD10:Q01 is_a: Orphanet:268357 ! Neural tube closure defect [Term] id: Orphanet:268820 name: Cranial meningocele xref: ICD10:Q01 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268817 ! Cephalocele [Term] id: Orphanet:268823 name: Occipital encephalocele xref: ICD10:Q01.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:199647 ! Isolated encephalocele [Term] id: Orphanet:268826 name: Parietal encephalocele xref: ICD10:Q01.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:199647 ! Isolated encephalocele [Term] id: Orphanet:268829 name: Basal encephalocele xref: ICD10:Q01.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:199647 ! Isolated encephalocele [Term] id: Orphanet:268832 name: Lipoma associated with neurospinal dysraphism is_a: Orphanet:268357 ! Neural tube closure defect [Term] id: Orphanet:268835 name: Lipomyelomeningocele is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268832 ! Lipoma associated with neurospinal dysraphism [Term] id: Orphanet:268838 name: Leptomyelolipoma is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268832 ! Lipoma associated with neurospinal dysraphism [Term] id: Orphanet:268843 name: Malformation of the neurenteric canal, spinal cord and column is_a: Orphanet:3388 ! Neural tube defect [Term] id: Orphanet:268861 name: Primary tethered chord syndrome is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268843 ! Malformation of the neurenteric canal, spinal cord and column property_value: alternative:term "Primary tethered spinal cord syndrome" xsd:string property_value: alternative:term "Syndrome de traction du cône terminal, forme primaire" xsd:string [Term] id: Orphanet:268865 name: Neurenteric cyst is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268843 ! Malformation of the neurenteric canal, spinal cord and column [Term] id: Orphanet:268868 name: Isolated amyelia xref: ICD10:Q06.0 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268843 ! Malformation of the neurenteric canal, spinal cord and column [Term] id: Orphanet:268871 name: Primary syringomyelia/hydromyelia xref: ICD10:G95.0 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268843 ! Malformation of the neurenteric canal, spinal cord and column [Term] id: Orphanet:268874 name: Congenital hydromyelia xref: ICD10:Q06.4 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268871 ! Primary syringomyelia/hydromyelia [Term] id: Orphanet:268882 name: Arnold-Chiari malformation type I xref: ICD10:G95.0 xref: OMIM:118420 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268843 ! Malformation of the neurenteric canal, spinal cord and column property_value: alternative:term "Arnold-Chiari malformation type 1" xsd:string property_value: alternative:term "Chiari malformation type 1" xsd:string property_value: alternative:term "Chiari malformation type I" xsd:string [Term] id: Orphanet:2689 name: Intermittent neutropenia is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_2686 with label: Cyclic neutropenia" xsd:string [Term] id: Orphanet:268920 name: Isolated megalencephaly xref: ICD10:Q04.5 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2477 ! Megalencephaly property_value: alternative:term "Isolated macrencephaly" xsd:string [Term] id: Orphanet:268926 name: Midline cerebral malformation xref: ICD10:Q04.8 is_a: Orphanet:199633 ! Cerebral malformation is_a: Orphanet:269553 ! Genetic cerebral malformation property_value: alternative:term "Midline brain malformation" xsd:string [Term] id: Orphanet:268936 name: Isolated arhinencephaly xref: ICD10:Q04.1 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:199633 ! Cerebral malformation [Term] id: Orphanet:268940 name: Bilateral polymicrogyria xref: ICD10:Q04.3 xref: OMIM:300388 xref: OMIM:606854 xref: OMIM:610031 xref: OMIM:612691 xref: OMIM:614833 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:35981 ! Polymicrogyria [Term] id: Orphanet:268943 name: Unilateral polymicrogyria xref: ICD10:Q04.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:35981 ! Polymicrogyria [Term] id: Orphanet:268947 name: Unilateral focal polymicrogyria xref: ICD10:Q04.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268943 ! Unilateral polymicrogyria [Term] id: Orphanet:268950 name: Cerebral cortical dysplasia xref: ICD10:Q04.8 is_a: Orphanet:163209 ! Nonsyndromic cerebral malformation due to abnormal neuronal migration property_value: alternative:term "Brain cortical dysplasia" xsd:string [Term] id: Orphanet:268961 name: Isolated focal cortical dysplasia type I xref: ICD10:Q04.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:65683 ! Isolated focal cortical dysplasia property_value: alternative:term "FCD type I" xsd:string [Term] id: Orphanet:268973 name: Isolated focal cortical dysplasia type Ia xref: ICD10:Q04.8 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268961 ! Isolated focal cortical dysplasia type I property_value: alternative:term "FCD type Ia" xsd:string [Term] id: Orphanet:268980 name: Isolated focal cortical dysplasia type Ib xref: ICD10:Q04.8 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268961 ! Isolated focal cortical dysplasia type I property_value: alternative:term "FCD type Ib" xsd:string [Term] id: Orphanet:268987 name: Isolated focal cortical dysplasia type Ic xref: ICD10:Q04.8 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268961 ! Isolated focal cortical dysplasia type I property_value: alternative:term "FCD type Ic" xsd:string [Term] id: Orphanet:268994 name: Isolated focal cortical dysplasia type II xref: ICD10:Q04.8 xref: OMIM:607341 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:65683 ! Isolated focal cortical dysplasia property_value: alternative:term "FCD type II" xsd:string [Term] id: Orphanet:269 name: Facioscapulohumeral dystrophy xref: ICD10:G71.0 xref: OMIM:158900 xref: OMIM:158901 xref: OMIM:600416 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:206644 ! Progressive muscular dystrophy property_value: alternative:term "Facioscapulohumeral muscular dystrophy" xsd:string property_value: alternative:term "Facioscapulohumeral myopathy" xsd:string property_value: alternative:term "FSH dystrophy" xsd:string property_value: alternative:term "FSHD" xsd:string property_value: alternative:term "Landouzy-Dejerine myopathy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and arm muscles." xsd:string [Term] id: Orphanet:2690 name: Neutropenia - monocytopenia - deafness xref: ICD10:D82.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:331184 ! Constitutional neutropenia with extra-haematopoietic manifestations relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:269001 name: Isolated focal cortical dysplasia type IIa xref: ICD10:Q04.8 xref: OMIM:607341 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268994 ! Isolated focal cortical dysplasia type II property_value: alternative:term "FCD type IIa" xsd:string [Term] id: Orphanet:269008 name: Isolated focal cortical dysplasia type IIb xref: ICD10:Q04.8 xref: OMIM:607341 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:268994 ! Isolated focal cortical dysplasia type II property_value: alternative:term "FCD type IIb" xsd:string [Term] id: Orphanet:2691 name: Nevo syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_1900 with label: Ehlers-Danlos syndrome, kyphoscoliotic type" xsd:string [Term] id: Orphanet:269190 name: Encephaloclastic disorder is_a: Orphanet:199633 ! Cerebral malformation is_a: Orphanet:269553 ! Genetic cerebral malformation [Term] id: Orphanet:269194 name: Central nervous system cystic malformation is_a: Orphanet:108989 ! Nonsyndromic central nervous system malformation [Term] id: Orphanet:269197 name: Glioependymal/ependymal cyst is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:269194 ! Central nervous system cystic malformation [Term] id: Orphanet:269200 name: Retrocerebellar cyst is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98520 ! Cystic malformation of the posterior fossa [Term] id: Orphanet:269203 name: Isolated cerebellar vermis agenesis xref: ICD10:Q04.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98514 ! Malformation of the cerebellar vermis [Term] id: Orphanet:269206 name: Isolated total cerebellar vermis agenesis xref: ICD10:Q04.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:269203 ! Isolated cerebellar vermis agenesis [Term] id: Orphanet:269209 name: Isolated partial cerebellar vermis agenesis xref: ICD10:Q04.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:269203 ! Isolated cerebellar vermis agenesis [Term] id: Orphanet:269212 name: Isolated Dandy-Walker malformation with hydrocephalus xref: ICD10:Q03.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:217 ! Isolated Dandy-Walker malformation [Term] id: Orphanet:269215 name: Isolated Dandy-Walker malformation without hydrocephalus xref: ICD10:Q03.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:217 ! Isolated Dandy-Walker malformation [Term] id: Orphanet:269218 name: Isolated unilateral hemispheric cerebellar hypoplasia xref: ICD10:Q04.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98516 ! Malformation of the cerebellar hemispheres [Term] id: Orphanet:269221 name: Isolated bilateral hemispheric cerebellar hypoplasia xref: ICD10:Q04.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98516 ! Malformation of the cerebellar hemispheres [Term] id: Orphanet:269224 name: Global cerebellar malformation xref: ICD10:Q04.3 is_a: Orphanet:182061 ! Cerebellar malformation property_value: alternative:term "Diffuse cerebellar malformation" xsd:string [Term] id: Orphanet:269229 name: Pontine tegmental cap dysplasia xref: ICD10:Q04.8 xref: OMIM:614688 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98519 ! Posterior fossa malformation property_value: alternative:term "PTCD" xsd:string [Term] id: Orphanet:2695 name: Bifid nose xref: ICD10:Q30.2 xref: MESH:C535441 xref: OMIM:109740 xref: OMIM:210400 xref: SNOMED CT:204521002 xref: UMLS:C0221363 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:156246 ! Nose and cavum anomaly [Term] id: Orphanet:269505 name: Congenital communicating hydrocephalus xref: ICD10:Q03.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2185 ! Congenital hydrocephalus property_value: alternative:term "Congenital non-obstructive hydrocephalus" xsd:string [Term] id: Orphanet:269510 name: Congenital non-communicating hydrocephalus xref: ICD10:Q03.1 xref: ICD10:Q03.2 xref: ICD10:Q03.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2185 ! Congenital hydrocephalus property_value: alternative:term "Congenital obstructive hydrocephalus" xsd:string [Term] id: Orphanet:269523 name: Syndrome with a cerebellar malformation as major feature is_a: Orphanet:108991 ! Syndrome with a central nervous system malformation as major feature [Term] id: Orphanet:269528 name: Syndrome with microcephaly as major feature xref: ICD10:Q02 is_a: Orphanet:108991 ! Syndrome with a central nervous system malformation as major feature is_a: Orphanet:269564 ! Genetic syndrome with a central nervous system malformation as major feature [Term] id: Orphanet:269531 name: Other syndrome with a central nervous system malformation as major feature is_a: Orphanet:108991 ! Syndrome with a central nervous system malformation as major feature [Term] id: Orphanet:269544 name: immunoglobulin heavy variable 3-21 xref: ENSEMBL:ENSG00000211947 xref: GENATLAS:IGHV3-21 xref: HGNC:5586 is_a: Orphanet:C010 ! gene relationship: Orphanet:317347 Orphanet:67038 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! B-cell chronic lymphocytic leukemia property_value: symbol "IGHV3-21" xsd:string [Term] id: Orphanet:269546 name: Syndrome with a Dandy-Walker malformation as major feature is_a: Orphanet:269523 ! Syndrome with a cerebellar malformation as major feature [Term] id: Orphanet:269550 name: Genetic nonsyndromic central nervous system malformation is_a: Orphanet:183506 ! Genetic central nervous system malformation [Term] id: Orphanet:269553 name: Genetic cerebral malformation is_a: Orphanet:269550 ! Genetic nonsyndromic central nervous system malformation property_value: alternative:term "Genetic brain malformation" xsd:string [Term] id: Orphanet:269557 name: Genetic posterior fossa malformation is_a: Orphanet:269550 ! Genetic nonsyndromic central nervous system malformation [Term] id: Orphanet:269560 name: Genetic cerebellar malformation is_a: Orphanet:269557 ! Genetic posterior fossa malformation [Term] id: Orphanet:269564 name: Genetic syndrome with a central nervous system malformation as major feature is_a: Orphanet:183506 ! Genetic central nervous system malformation [Term] id: Orphanet:269567 name: Genetic syndrome with a cerebellar malformation as major feature is_a: Orphanet:269564 ! Genetic syndrome with a central nervous system malformation as major feature [Term] id: Orphanet:269570 name: Genetic syndrome with a Dandy-Walker malformation as major feature is_a: Orphanet:269567 ! Genetic syndrome with a cerebellar malformation as major feature [Term] id: Orphanet:269573 name: Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature is_a: Orphanet:269564 ! Genetic syndrome with a central nervous system malformation as major feature [Term] id: Orphanet:269639 name: alanyl-tRNA synthetase 2, mitochondrial xref: ENSEMBL:ENSG00000124608 xref: GENATLAS:AARS2 xref: HGNC:21022 xref: OMIM:612035 xref: REACTOME:Q5JTZ9 xref: UNIPROTKB/SWISSPROT:Q5JTZ9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319504 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined oxidative phosphorylation defect type 8 property_value: alternative:term "AARSL" xsd:string property_value: alternative:term "alanine tRNA ligase 2, mitochondrial" xsd:string property_value: alternative:term "alanine tRNA ligase 2, mitochondrial (putative)" xsd:string property_value: alternative:term "alanyl-tRNA synthetase 2, mitochondrial (putative)" xsd:string property_value: alternative:term "alanyl-tRNA synthetase like" xsd:string property_value: alternative:term "bA444E17.1" xsd:string property_value: alternative:term "KIAA1270" xsd:string property_value: symbol "AARS2" xsd:string [Term] id: Orphanet:269646 name: family with sequence similarity 20, member A xref: ENSEMBL:ENSG00000108950 xref: GENATLAS:FAM20A xref: HGNC:23015 xref: OMIM:611062 xref: UNIPROTKB/SWISSPROT:Q96MK3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1031 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amelogenesis imperfecta - nephrocalcinosis relationship: Orphanet:317343 Orphanet:171836 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amelogenesis imperfecta and gingival hyperplasia syndrome property_value: alternative:term "DKFZp434F2322" xsd:string property_value: symbol "FAM20A" xsd:string [Term] id: Orphanet:2697 name: Arthrogryposis - renal dysfunction - cholestasis xref: ICD10:Q89.7 xref: MESH:C535382 xref: OMIM:208085 xref: OMIM:613404 xref: UMLS:C1859722 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:1037 ! Arthrogryposis multiplex congenita relationship: part_of Orphanet:281241 ! Autosomal ichthyosis syndrome with fatal disease course relationship: part_of Orphanet:309816 ! Disorder of bilirubin metabolism and excretion relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "ARC syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." xsd:string [Term] id: Orphanet:269704 name: glycogenin 1 xref: ENSEMBL:ENSG00000163754 xref: GENATLAS:GYG1 xref: HGNC:4699 xref: OMIM:603942 xref: REACTOME:P46976 xref: UNIPROTKB/SWISSPROT:P46976 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:263297 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Glycogen storage disease due to glycogenin deficiency property_value: alternative:term "glycogenin" xsd:string property_value: alternative:term "glycogenin glucosyltransferase" xsd:string property_value: alternative:term "GYG" xsd:string property_value: symbol "GYG1" xsd:string [Term] id: Orphanet:269752 name: component of oligomeric golgi complex 5 xref: ENSEMBL:ENSG00000164597 xref: GENATLAS:COG5 xref: HGNC:14857 xref: OMIM:606821 xref: UNIPROTKB/SWISSPROT:Q9UP83 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:263487 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! COG5-CDG property_value: alternative:term "golgi transport complex 1 (90 kDa subunit)" xsd:string property_value: alternative:term "GOLTC1" xsd:string property_value: alternative:term "GTC90" xsd:string property_value: symbol "COG5" xsd:string [Term] id: Orphanet:269756 name: dolichyl-phosphate mannosyltransferase polypeptide 3 xref: ENSEMBL:ENSG00000179085 xref: GENATLAS:DPM3 xref: HGNC:3007 xref: OMIM:605951 xref: REACTOME:Q9P2X0 xref: UNIPROTKB/SWISSPROT:Q9P2X0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:263494 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! DPM3-CDG property_value: alternative:term "DPM synthase complex subunit" xsd:string property_value: alternative:term "MGC125904" xsd:string property_value: alternative:term "MGC125905" xsd:string property_value: alternative:term "MGC34275" xsd:string property_value: symbol "DPM3" xsd:string [Term] id: Orphanet:269762 name: component of oligomeric golgi complex 4 xref: ENSEMBL:ENSG00000103051 xref: GENATLAS:COG4 xref: HGNC:18620 xref: OMIM:606976 xref: UNIPROTKB/SWISSPROT:Q9H9E3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:263501 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! COG4-CDG property_value: alternative:term "COD1" xsd:string property_value: alternative:term "DKFZP586E1519" xsd:string property_value: symbol "COG4" xsd:string [Term] id: Orphanet:269799 name: meningioma (disrupted in balanced translocation) 1 xref: ENSEMBL:ENSG00000169184 xref: GENATLAS:MN1 xref: HGNC:7180 xref: OMIM:156100 xref: UNIPROTKB/SWISSPROT:Q10571 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:263662 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial multiple meningioma property_value: alternative:term "meningioma chromosome region" xsd:string property_value: alternative:term "MGCR" xsd:string property_value: alternative:term "MGCR1" xsd:string property_value: alternative:term "MGCR1-PEN" xsd:string property_value: alternative:term "probable tumor suppressor protein MN1" xsd:string property_value: symbol "MN1" xsd:string [Term] id: Orphanet:2698 name: Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome xref: ICD10:Q82.8 xref: OMIM:149200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98352 ! Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature property_value: alternative:term "Bart-Pumphrey syndrome" xsd:string property_value: alternative:term "Knuckle pads-leuconychia-sensorineural deafness-palmoplantar keratoderma syndrome" xsd:string [Term] id: Orphanet:269879 name: surfactant protein A2 xref: ENSEMBL:ENSG00000185303 xref: GENATLAS:SFTPA2 xref: HGNC:10799 xref: OMIM:178642 xref: REACTOME:Q8IWL1 xref: UNIPROTKB/SWISSPROT:Q8IWL1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:2032 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic pulmonary fibrosis property_value: alternative:term "COLEC5" xsd:string property_value: alternative:term "SP-A2" xsd:string property_value: alternative:term "surfactant, pulmonary-associated protein A2" xsd:string property_value: alternative:term "surfactant, pulmonary-associated protein A2A" xsd:string property_value: symbol "SFTPA2" xsd:string [Term] id: Orphanet:2699 name: Median nodule of the upper lip xref: ICD10:Q18.8 xref: OMIM:151630 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion." xsd:string [Term] id: Orphanet:269925 name: T-box 2 xref: ENSEMBL:ENSG00000121068 xref: GENATLAS:TBX2 xref: HGNC:11597 xref: OMIM:600747 xref: UNIPROTKB/SWISSPROT:Q13207 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:261279 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 17q23.1q23.2 microdeletion syndrome property_value: symbol "TBX2" xsd:string [Term] id: Orphanet:269928 name: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon xref: ENSEMBL:ENSG00000108953 xref: GENATLAS:YWHAE xref: HGNC:12851 xref: OMIM:605066 xref: REACTOME:P62258 xref: UNIPROTKB/SWISSPROT:P62258 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:217385 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 17p13.3 microduplication syndrome relationship: Orphanet:317349 Orphanet:261257 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Distal 17p13.3 microdeletion syndrome relationship: Orphanet:317349 Orphanet:531 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Miller-Dieker syndrome property_value: alternative:term "14-3-3 epsilon" xsd:string property_value: alternative:term "FLJ45465" xsd:string property_value: alternative:term "Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide" xsd:string property_value: symbol "YWHAE" xsd:string [Term] id: Orphanet:269953 name: lipase maturation factor 1 xref: ENSEMBL:ENSG00000103227 xref: GENATLAS:LMF1 xref: HGNC:14154 xref: OMIM:611761 xref: UNIPROTKB/SWISSPROT:Q96S06 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:411 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperlipoproteinemia type 1 property_value: alternative:term "C16orf26" xsd:string property_value: alternative:term "chromosome 16 open reading frame 26" xsd:string property_value: alternative:term "FLJ12681" xsd:string property_value: alternative:term "FLJ22302" xsd:string property_value: alternative:term "JFP11" xsd:string property_value: alternative:term "TMEM112" xsd:string property_value: alternative:term "TMEM112A" xsd:string property_value: alternative:term "transmembrane protein 112" xsd:string property_value: symbol "LMF1" xsd:string [Term] id: Orphanet:27 name: Vitamin B12-unresponsive methylmalonic acidemia xref: ICD10:E71.1 xref: OMIM:251000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:293355 ! Methylmalonic acidemia without homocystinuria relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease property_value: alternative:term "Vitamin B12-unresponsive methylmalonic aciduria" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " (see these terms)." xsd:string [Term] id: Orphanet:270 name: Oculopharyngeal muscular dystrophy xref: ICD10:G71.0 xref: MEDDRA:10052181 xref: MESH:D039141 xref: OMIM:164300 xref: SNOMED CT:77097004 xref: UMLS:C0270952 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:206644 ! Progressive muscular dystrophy relationship: part_of Orphanet:98578 ! Ptosis property_value: alternative:term "OPMD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness." xsd:string [Term] id: Orphanet:2700 name: Noma xref: ICD10:A69.0 xref: MEDDRA:10029502 xref: MESH:D009625 xref: SNOMED CT:18116006 xref: UMLS:C0028271 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease property_value: alternative:term "Cancrum oris" xsd:string [Term] id: Orphanet:270002 name: intraflagellar transport 43 homolog (Chlamydomonas) xref: ENSEMBL:ENSG00000119650 xref: GENATLAS:IFT43 xref: HGNC:29669 xref: OMIM:614068 xref: UNIPROTKB/SWISSPROT:Q96FT9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1515 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cranioectodermal dysplasia property_value: alternative:term "C14orf179" xsd:string property_value: alternative:term "chromosome 14 open reading frame 179" xsd:string property_value: alternative:term "FLJ32173" xsd:string property_value: alternative:term "MGC16028" xsd:string property_value: symbol "IFT43" xsd:string [Term] id: Orphanet:270009 name: immunoglobulin kappa constant xref: ENSEMBL:ENSG00000211592 xref: GENATLAS:IGKC xref: HGNC:5716 xref: OMIM:147200 xref: REACTOME:P01834 xref: UNIPROTKB/SWISSPROT:P01834 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:183675 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Recurrent infections associated with rare immunoglobulin isotypes deficiency property_value: alternative:term "HCAK1" xsd:string property_value: symbol "IGKC" xsd:string [Term] id: Orphanet:270014 name: dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A xref: ENSEMBL:ENSG00000157540 xref: GENATLAS:DYRK1A xref: HGNC:3091 xref: IUPHAR:2009 xref: OMIM:600855 xref: REACTOME:Q13627 xref: UNIPROTKB/SWISSPROT:Q13627 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178469 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic intellectual deficit property_value: alternative:term "DYRK" xsd:string property_value: alternative:term "DYRK1" xsd:string property_value: alternative:term "MNBH" xsd:string property_value: symbol "DYRK1A" xsd:string [Term] id: Orphanet:270019 name: centrosomal protein 57kDa xref: ENSEMBL:ENSG00000166037 xref: GENATLAS:CEP57 xref: HGNC:30794 xref: OMIM:607951 xref: REACTOME:Q86XR8 xref: UNIPROTKB/SWISSPROT:Q86XR8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1052 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mosaic variegated aneuploidy syndrome property_value: alternative:term "KIAA0092" xsd:string property_value: alternative:term "Translokin" xsd:string property_value: alternative:term "TSP57" xsd:string property_value: symbol "CEP57" xsd:string [Term] id: Orphanet:270026 name: DNA (cytosine-5-)-methyltransferase 1 xref: ENSEMBL:ENSG00000130816 xref: GENATLAS:DNMT1 xref: HGNC:2976 xref: IUPHAR:2605 xref: OMIM:126375 xref: UNIPROTKB/SWISSPROT:P26358 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314404 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cerebellar ataxia-deafness-narcolepsy syndrome relationship: Orphanet:317343 Orphanet:36386 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary sensory and autonomic neuropathy type 1 property_value: alternative:term "CXXC9" xsd:string property_value: alternative:term "DNMT" xsd:string property_value: alternative:term "MCMT" xsd:string property_value: symbol "DNMT1" xsd:string [Term] id: Orphanet:270032 name: myosin IE xref: ENSEMBL:ENSG00000157483 xref: GENATLAS:MYO1E xref: HGNC:7599 xref: OMIM:601479 xref: UNIPROTKB/SWISSPROT:Q12965 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93213 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis property_value: alternative:term "HuncM-IC" xsd:string property_value: alternative:term "MGC104638" xsd:string property_value: alternative:term "MYO1C" xsd:string property_value: alternative:term "myosin-IC" xsd:string property_value: symbol "MYO1E" xsd:string [Term] id: Orphanet:270043 name: glutamate decarboxylase 1 (brain, 67kDa) xref: ENSEMBL:ENSG00000128683 xref: GENATLAS:GAD1 xref: HGNC:4092 xref: OMIM:605363 xref: REACTOME:Q99259 xref: UNIPROTKB/SWISSPROT:Q99259 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:210141 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Inherited congenital spastic tetraplegia property_value: alternative:term "GAD" xsd:string property_value: alternative:term "glutamate decarboxylase 1 (brain, 67kD)" xsd:string property_value: symbol "GAD1" xsd:string [Term] id: Orphanet:270045 name: adaptor-related protein complex 4, epsilon 1 subunit xref: ENSEMBL:ENSG00000081014 xref: GENATLAS:AP4E1 xref: HGNC:573 xref: OMIM:607244 xref: REACTOME:Q9UPM8 xref: UNIPROTKB/SWISSPROT:Q9UPM8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280763 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe intellectual deficit and progressive spastic paraplegia property_value: alternative:term "AP-4-EPSILON" xsd:string property_value: alternative:term "SPG51" xsd:string property_value: symbol "AP4E1" xsd:string [Term] id: Orphanet:270048 name: adaptor-related protein complex 4, beta 1 subunit xref: ENSEMBL:ENSG00000134262 xref: GENATLAS:AP4B1 xref: HGNC:572 xref: OMIM:607245 xref: REACTOME:Q9Y6B7 xref: UNIPROTKB/SWISSPROT:Q9Y6B7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280763 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe intellectual deficit and progressive spastic paraplegia property_value: alternative:term "beta 4 subunit of AP-4" xsd:string property_value: alternative:term "BETA-4" xsd:string property_value: alternative:term "spastic paraplegia 47" xsd:string property_value: alternative:term "SPG47" xsd:string property_value: symbol "AP4B1" xsd:string [Term] id: Orphanet:270052 name: adaptor-related protein complex 4, sigma 1 subunit xref: ENSEMBL:ENSG00000100478 xref: GENATLAS:AP4S1 xref: HGNC:575 xref: OMIM:607243 xref: UNIPROTKB/SWISSPROT:Q9Y587 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280763 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe intellectual deficit and progressive spastic paraplegia property_value: alternative:term "AP47B" xsd:string property_value: alternative:term "CLA20" xsd:string property_value: alternative:term "SPG52" xsd:string property_value: symbol "AP4S1" xsd:string [Term] id: Orphanet:270071 name: paired related homeobox 1 xref: ENSEMBL:ENSG00000116132 xref: GENATLAS:PRRX1 xref: HGNC:9142 xref: OMIM:167420 xref: UNIPROTKB/SWISSPROT:P54821 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:990 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Agnathia - holoprosencephaly - situs inversus property_value: alternative:term "paired mesoderm homeo box 1" xsd:string property_value: alternative:term "PHOX1" xsd:string property_value: alternative:term "PMX1" xsd:string property_value: symbol "PRRX1" xsd:string [Term] id: Orphanet:2701 name: Noonan syndrome-like disorder with loose anagen hair xref: ICD10:Q87.1 xref: OMIM:607721 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:79364 ! Alopecia relationship: part_of Orphanet:98733 ! Noonan syndrome and Noonan-related syndrome [Term] id: Orphanet:270208 name: GIPC PDZ domain containing family, member 3 xref: ENSEMBL:ENSG00000179855 xref: GENATLAS:GIPC3 xref: HGNC:18183 xref: OMIM:608792 xref: UNIPROTKB/SWISSPROT:Q8TF64 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "C19orf64" xsd:string property_value: alternative:term "chromosome 19 open reading frame 64" xsd:string property_value: alternative:term "deafness, autosomal recessive 15" xsd:string property_value: alternative:term "deafness, autosomal recessive 72" xsd:string property_value: alternative:term "DFNB15" xsd:string property_value: alternative:term "DFNB72" xsd:string property_value: alternative:term "DFNB95" xsd:string property_value: symbol "GIPC3" xsd:string [Term] id: Orphanet:270336 name: PR domain containing 5 xref: ENSEMBL:ENSG00000138738 xref: GENATLAS:PRDM5 xref: HGNC:9349 xref: OMIM:614161 xref: UNIPROTKB/SWISSPROT:Q9NQX1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90354 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brittle cornea syndrome property_value: alternative:term "PFM2" xsd:string property_value: symbol "PRDM5" xsd:string [Term] id: Orphanet:270347 name: FYVE and coiled-coil domain containing 1 xref: ENSEMBL:ENSG00000163820 xref: GENATLAS:FYCO1 xref: HGNC:14673 xref: OMIM:607182 xref: UNIPROTKB/SWISSPROT:Q9BQS8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98991 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nuclear cataract property_value: alternative:term "FLJ13335" xsd:string property_value: alternative:term "ZFYVE7" xsd:string property_value: symbol "FYCO1" xsd:string [Term] id: Orphanet:270352 name: phospholipase C, delta 1 xref: ENSEMBL:ENSG00000187091 xref: GENATLAS:PLCD1 xref: HGNC:9060 xref: OMIM:602142 xref: REACTOME:P51178 xref: UNIPROTKB/SWISSPROT:P51178 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2387 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leukonychia totalis property_value: symbol "PLCD1" xsd:string [Term] id: Orphanet:270354 name: B9 protein domain 1 xref: ENSEMBL:ENSG00000108641 xref: GENATLAS:B9D1 xref: HGNC:24123 xref: OMIM:614144 xref: UNIPROTKB/SWISSPROT:Q9UPM9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:564 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Meckel syndrome property_value: alternative:term "B9" xsd:string property_value: alternative:term "endothelial precursor protein B9" xsd:string property_value: alternative:term "EPPB9" xsd:string property_value: symbol "B9D1" xsd:string [Term] id: Orphanet:270389 name: KIAA1033 xref: ENSEMBL:ENSG00000136051 xref: GENATLAS:KIAA1033 xref: HGNC:29174 xref: UNIPROTKB/SWISSPROT:Q2M389 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88616 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive nonsyndromic intellectual deficit property_value: alternative:term "SWIP" xsd:string property_value: symbol "KIAA1033" xsd:string [Term] id: Orphanet:2704 name: Ochoa syndrome xref: MESH:C536480 xref: OMIM:236730 xref: OMIM:615112 xref: SNOMED CT:236533008 xref: UMLS:C0403555 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Hydronephrosis - inverted smile" xsd:string property_value: alternative:term "Inverted smile - neurogenic bladder" xsd:string property_value: alternative:term "Partial facial palsy with urinary abnormalities" xsd:string property_value: alternative:term "Urofacial syndrome" xsd:string [Term] id: Orphanet:270424 name: protein tyrosine phosphatase, receptor type, O xref: ENSEMBL:ENSG00000151490 xref: GENATLAS:PTPRO xref: HGNC:9678 xref: OMIM:600579 xref: UNIPROTKB/SWISSPROT:Q16827 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93213 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis relationship: Orphanet:317343 Orphanet:93214 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation relationship: Orphanet:317343 Orphanet:93216 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes relationship: Orphanet:317343 Orphanet:93217 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis property_value: alternative:term "GLEPP1" xsd:string property_value: alternative:term "NPHS6" xsd:string property_value: alternative:term "osteoclastic transmembrane protein-tyrosine phosphatase" xsd:string property_value: alternative:term "PTP-oc" xsd:string property_value: alternative:term "PTP-U2" xsd:string property_value: alternative:term "PTPU2" xsd:string property_value: symbol "PTPRO" xsd:string [Term] id: Orphanet:270442 name: diablo, IAP-binding mitochondrial protein xref: ENSEMBL:ENSG00000184047 xref: GENATLAS:DIABLO xref: HGNC:21528 xref: OMIM:605219 xref: REACTOME:Q9NR28 xref: UNIPROTKB/SWISSPROT:Q9NR28 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA property_value: alternative:term "DFNA64" xsd:string property_value: alternative:term "DIABLO-S" xsd:string property_value: alternative:term "FLJ10537" xsd:string property_value: alternative:term "FLJ25049" xsd:string property_value: alternative:term "second mitochondria-derived activator of caspase" xsd:string property_value: alternative:term "SMAC" xsd:string property_value: symbol "DIABLO" xsd:string [Term] id: Orphanet:270465 name: coiled-coil domain containing 8 xref: ENSEMBL:ENSG00000169515 xref: GENATLAS:CCDC8 xref: HGNC:25367 xref: OMIM:614145 xref: UNIPROTKB/SWISSPROT:Q9H0W5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2616 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 3M syndrome property_value: alternative:term "3M3" xsd:string property_value: alternative:term "DKFZp564K0322" xsd:string property_value: alternative:term "PPP1R20" xsd:string property_value: alternative:term "protein phosphatase 1, regulatory subunit 20" xsd:string property_value: symbol "CCDC8" xsd:string [Term] id: Orphanet:270468 name: sperm antigen with calponin homology and coiled-coil domains 1-like xref: ENSEMBL:ENSG00000100014 xref: GENATLAS:SPECC1L xref: HGNC:29022 xref: OMIM:614140 xref: UNIPROTKB/SWISSPROT:Q69YQ0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:141258 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Tessier number 4 facial cleft relationship: Orphanet:317343 Orphanet:141276 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Commissural facial cleft property_value: alternative:term "cytokinesis and spindle organization A" xsd:string property_value: alternative:term "cytospin A" xsd:string property_value: alternative:term "CYTSA" xsd:string property_value: alternative:term "KIAA0376" xsd:string property_value: alternative:term "SPECC1-like" xsd:string property_value: symbol "SPECC1L" xsd:string [Term] id: Orphanet:2707 name: Oculocerebrofacial syndrome, Kaufman type xref: ICD10:Q87.0 xref: MESH:C537013 xref: OMIM:244450 xref: UMLS:C1855663 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:98553 ! Developmental defect of the eye [Term] id: Orphanet:2709 name: Oculodental syndrome, Rutherfurd type xref: ICD10:Q87.8 xref: MESH:C537732 xref: OMIM:180900 xref: UMLS:C0796140 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:98628 ! Syndromic corneal dystrophy property_value: alternative:term "Gingival hypertrophy - corneal dystrophy" xsd:string property_value: alternative:term "Rutherfurd syndrome" xsd:string [Term] id: Orphanet:2710 name: Oculodentodigital dysplasia xref: ICD10:Q87.8 xref: MEDDRA:10063691 xref: OMIM:164200 xref: OMIM:257850 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density relationship: part_of Orphanet:98709 ! Ectodermal malformation syndrome associated with ocular features property_value: alternative:term "Meyer-Schwickerath syndrome" xsd:string property_value: alternative:term "Oculodentoosseous dysplasia" xsd:string property_value: alternative:term "ODDD syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities." xsd:string [Term] id: Orphanet:2712 name: Oculofaciocardiodental syndrome xref: ICD10:Q87.8 xref: MESH:C537465 xref: MESH:C537735 xref: OMIM:300166 xref: UMLS:C1846265 xref: UMLS:C2931601 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:202948 ! Syndromic microphthalmia relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature property_value: alternative:term "Cataract - microphthalmia - radiculomegaly - septal heart defect" xsd:string property_value: alternative:term "OFCD syndrome" xsd:string [Term] id: Orphanet:2713 name: Oculoosteocutaneous syndrome xref: OMIM:211370 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome [Term] id: Orphanet:2714 name: Oculo-palato-cerebral syndrome xref: ICD10:Q87.1 xref: OMIM:257910 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Oculo-palato-cerebral dwarfism" xsd:string [Term] id: Orphanet:2716 name: Oculo-skeletal-renal syndrome is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation [Term] id: Orphanet:2717 name: Oculotrichoanal syndrome xref: ICD10:Q87.8 xref: OMIM:248450 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "Manitoba oculotrichoanal syndrome" xsd:string property_value: alternative:term "Marles syndrome" xsd:string property_value: alternative:term "Marles-Greenberg-Persaud syndrome" xsd:string property_value: alternative:term "MOTA syndrome" xsd:string [Term] id: Orphanet:2718 name: Oculotrichodysplasia xref: OMIM:257960 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa property_value: alternative:term "Cecato de Lima-Pinheiro syndrome" xsd:string [Term] id: Orphanet:271832 name: Genetic soft tissue tumor is_a: Orphanet:68336 ! Rare genetic tumor property_value: alternative:term "Genetic mesenchymal tumor" xsd:string [Term] id: Orphanet:271835 name: Genetic digestive tract tumor is_a: Orphanet:68336 ! Rare genetic tumor [Term] id: Orphanet:271841 name: Genetic cardiac tumor is_a: Orphanet:68336 ! Rare genetic tumor [Term] id: Orphanet:271844 name: Genetic urogenital tumor is_a: Orphanet:68336 ! Rare genetic tumor [Term] id: Orphanet:271847 name: Genetic endocrine tumor is_a: Orphanet:68336 ! Rare genetic tumor [Term] id: Orphanet:271853 name: Genetic cardiac anomaly is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis [Term] id: Orphanet:271861 name: Familial transthyretin-related amyloidosis is_a: Orphanet:271870 ! Rare genetic systemic or rheumatologic disease is_a: Orphanet:69 ! Amyloidosis property_value: alternative:term "Familial TTR-related amyloidosis" xsd:string [Term] id: Orphanet:271870 name: Rare genetic systemic or rheumatologic disease is_a: Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:2719 name: Oculocerebral hypopigmentation syndrome, Cross type xref: ICD10:E70.3 xref: OMIM:257800 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:284811 ! Syndromic oculocutaneous albinism property_value: alternative:term "Cross syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia." xsd:string [Term] id: Orphanet:272 name: Congenital muscular dystrophy, Fukuyama type is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_588 with label: Muscle-eye-brain disease" xsd:string [Term] id: Orphanet:2721 name: Odonto-onycho-dermal dysplasia xref: ICD10:Q82.4 xref: MESH:C537742 xref: OMIM:257980 xref: SNOMED CT:403762003 xref: UMLS:C1275074 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:307804 ! Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "OODD" xsd:string [Term] id: Orphanet:2722 name: Odonto-onycho dysplasia - alopecia is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome [Term] id: Orphanet:2723 name: Odontotrichomelic syndrome xref: OMIM:273400 xref: SNOMED CT:239028001 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Freire-Maia syndrome" xsd:string [Term] id: Orphanet:2724 name: Odontomatosis - aortae esophagus stenosis xref: OMIM:164330 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component property_value: alternative:term "Boder syndrome" xsd:string [Term] id: Orphanet:2728 name: Blepharophimosis-intellectual deficit syndrome, Ohdo type xref: OMIM:249620 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:293642 ! Blepharophimosis-intellectual deficit syndrome property_value: alternative:term "Blepharophimosis syndrome, Ohdo type" xsd:string property_value: alternative:term "BMRS, Ohdo type" xsd:string property_value: alternative:term "Ohdo syndrome" xsd:string property_value: alternative:term "Ohdo-Madokoro-Sonoda syndrome" xsd:string [Term] id: Orphanet:2729 name: Okamoto syndrome xref: ICD10:Q87.8 xref: OMIM:604916 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:273 name: Steinert myotonic dystrophy xref: ICD10:G71.1 xref: MESH:C538008 xref: OMIM:160900 xref: SNOMED CT:77956009 xref: UMLS:C2931688 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:206647 ! Myotonic dystrophy relationship: part_of Orphanet:217595 ! Syndrome associated with hypertrophic cardiomyopathy relationship: part_of Orphanet:98033 ! Rare neurologic disease with psychiatric involvement relationship: part_of Orphanet:98578 ! Ptosis relationship: part_of Orphanet:98648 ! Musculoskeletal disease with cataract relationship: part_of Orphanet:98689 ! Myopathy with eye involvement property_value: alternative:term "DM1" xsd:string property_value: alternative:term "MD1" xsd:string property_value: alternative:term "Myotonic dystrophy type 1" xsd:string property_value: alternative:term "Steinert disease" xsd:string [Term] id: Orphanet:2730 name: Postaxial tetramelic oligodactyly xref: ICD10:Q73.8 xref: OMIM:176240 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects [Term] id: Orphanet:2731 name: Taurodontia - absent teeth - sparse hair xref: MESH:C536945 xref: OMIM:272980 xref: UMLS:C1848909 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome [Term] id: Orphanet:2732 name: Olivopontocerebellar atrophy - deafness is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:2733 name: Omodysplasia xref: ICD10:Q78.8 xref: OMIM:164745 xref: OMIM:258315 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93438 ! Mesomelic and rhizo-mesomelic dysplasia [Term] id: Orphanet:2736 name: Lethal omphalocele-cleft palate syndrome xref: ICD10:Q87.8 xref: MESH:C537747 xref: OMIM:258320 xref: UMLS:C1850317 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:108979 ! Syndromic diaphragmatic or abdominal wall malformation relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Czeizel syndrome" xsd:string [Term] id: Orphanet:2737 name: Onchocerciasis xref: ICD10:B73 xref: MEDDRA:10030314 xref: MEDDRA:10039202 xref: MESH:D009855 xref: MESH:D015827 xref: SNOMED CT:240842000 xref: SNOMED CT:38539003 xref: UMLS:C0029001 xref: UMLS:C0029002 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2034 ! Filariasis property_value: alternative:term "River blindness" xsd:string [Term] id: Orphanet:2739 name: Onycho-tricho-dysplasia - neutropenia is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_33364 with label: Trichothiodystrophy" xsd:string [Term] id: Orphanet:273977 name: ankyrin repeat domain 11 xref: ENSEMBL:ENSG00000167522 xref: GENATLAS:ANKRD11 xref: HGNC:21316 xref: OMIM:611192 xref: UNIPROTKB/SWISSPROT:Q6UB99 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2332 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! KBG syndrome relationship: Orphanet:317349 Orphanet:261250 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 16q24.3 microdeletion syndrome property_value: alternative:term "LZ16" xsd:string property_value: alternative:term "T13" xsd:string property_value: symbol "ANKRD11" xsd:string [Term] id: Orphanet:274 name: Bernard-Soulier syndrome xref: ICD10:D69.1 xref: MEDDRA:10057473 xref: MESH:D001606 xref: OMIM:153670 xref: OMIM:231200 xref: SNOMED CT:54569005 xref: UMLS:C0005129 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:220452 ! Inherited giant platelet disorder property_value: alternative:term "Giant platelet syndrome" xsd:string property_value: alternative:term "Hemorrhagiparous thrombocytic dystrophy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination." xsd:string [Term] id: Orphanet:274023 name: dicarbonyl/L-xylulose reductase xref: ENSEMBL:ENSG00000169738 xref: GENATLAS:DCXR xref: HGNC:18985 xref: OMIM:608347 xref: UNIPROTKB/SWISSPROT:Q7Z4W1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2843 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pentosuria property_value: alternative:term "DCR" xsd:string property_value: alternative:term "KIDCR" xsd:string property_value: alternative:term "SDR20C1" xsd:string property_value: alternative:term "short chain dehydrogenase/reductase family 20C, member 1" xsd:string property_value: symbol "DCXR" xsd:string [Term] id: Orphanet:2741 name: Ophthalmomandibulomelic dysplasia xref: ICD10:Q87.8 xref: OMIM:164900 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:98628 ! Syndromic corneal dystrophy property_value: alternative:term "OMM syndrome" xsd:string property_value: alternative:term "Pillay syndrome" xsd:string [Term] id: Orphanet:274222 name: GATA binding protein 2 xref: ENSEMBL:ENSG00000179348 xref: GENATLAS:GATA2 xref: HGNC:4171 xref: OMIM:137295 xref: REACTOME:P23769 xref: UNIPROTKB/SWISSPROT:P23769 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:228423 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Monocytopenia with susceptibility to infections relationship: Orphanet:317345 Orphanet:3226 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Deafness - lymphedema - leukemia relationship: Orphanet:317345 Orphanet:519 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Acute myeloid leukemia relationship: Orphanet:317345 Orphanet:52688 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myelodysplastic syndromes property_value: alternative:term "GATA-binding protein 2" xsd:string property_value: alternative:term "NFE1B" xsd:string property_value: symbol "GATA2" xsd:string [Term] id: Orphanet:274226 name: tectonic family member 1 xref: ENSEMBL:ENSG00000204852 xref: GENATLAS:TCTN1 xref: HGNC:26113 xref: OMIM:609863 xref: UNIPROTKB/SWISSPROT:Q2MV58 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:475 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome property_value: alternative:term "FLJ21127" xsd:string property_value: alternative:term "JBTS13" xsd:string property_value: alternative:term "TECT1" xsd:string property_value: symbol "TCTN1" xsd:string [Term] id: Orphanet:274231 name: male germ cell-associated kinase xref: ENSEMBL:ENSG00000111837 xref: GENATLAS:MAK xref: HGNC:6816 xref: IUPHAR:2061 xref: OMIM:154235 xref: UNIPROTKB/SWISSPROT:P20794 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "dJ417M14.2" xsd:string property_value: symbol "MAK" xsd:string [Term] id: Orphanet:2743 name: Ophthalmoplegia - intellectual deficit - lingua scrotalis xref: OMIM:165150 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Levic-Stefanovic-Nikolic syndrome" xsd:string [Term] id: Orphanet:2744 name: Horizontal gaze palsy with progressive scoliosis xref: ICD10:H49.4 xref: OMIM:607313 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature relationship: part_of Orphanet:269564 ! Genetic syndrome with a central nervous system malformation as major feature relationship: part_of Orphanet:98683 ! Syndrome with a symptomatic strabismus property_value: alternative:term "HGPPS" xsd:string property_value: alternative:term "Progressive external ophthalmoplegia and scoliosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla." xsd:string [Term] id: Orphanet:2745 name: Opitz G/BBB syndrome xref: ICD10:Q87.8 xref: OMIM:145410 xref: OMIM:300000 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:108995 ! Syndromic respiratory or mediastinal malformation relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit relationship: part_of Orphanet:98575 ! Telecanthus property_value: alternative:term "Hypertelorism-oesophageal abnormality-hypospadias syndrome" xsd:string property_value: alternative:term "Hypospadias-dysphagia syndrome" xsd:string property_value: alternative:term "Hypospadias-hypertelorism syndrome" xsd:string property_value: alternative:term "Opitz syndrome" xsd:string property_value: alternative:term "Opitz-Frias syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS)." xsd:string [Term] id: Orphanet:2746 name: Opsismodysplasia xref: ICD10:Q78.8 xref: MESH:C537122 xref: OMIM:258480 xref: SNOMED CT:254068007 xref: UMLS:C0432219 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93434 ! Spondylodysplastic dysplasia [Term] id: Orphanet:2749 name: Oro-mandibular-limb hypogenesis syndrome xref: ICD10:Q87.5 is_a: Orphanet:156215 ! Oromandibular-limb anomalies syndrome is_a: Orphanet:364571 ! Dysostosis with limb and face anomalies as a major feature relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 property_value: alternative:term "Oroacral syndrome" xsd:string [Term] id: Orphanet:275 name: Severe combined immunodeficiency due to DCLRE1C deficiency xref: ICD10:D81.1 xref: OMIM:602450 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:317419 ! T-B- severe combined immunodeficiency property_value: alternative:term "SCID due to artemis deficiency" xsd:string property_value: alternative:term "SCID due to DCLRE1C deficiency" xsd:string property_value: alternative:term "SCID, Athabaskan type" xsd:string property_value: alternative:term "Severe combined immunodeficiency due to artemis deficiency" xsd:string property_value: alternative:term "Severe combined immunodeficiency, Athabaskan type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." xsd:string [Term] id: Orphanet:2750 name: Orofaciodigital syndrome type 1 xref: ICD10:Q87.0 xref: OMIM:311200 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:140997 ! Orofaciodigital syndrome relationship: part_of Orphanet:183460 ! Genetic sebaceus gland anomaly relationship: part_of Orphanet:79372 ! Sebaceous gland anomaly relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "OFD1" xsd:string property_value: alternative:term "OFDI" xsd:string property_value: alternative:term "OFDSI" xsd:string property_value: alternative:term "Oral-facial-digital syndrome type 1" xsd:string property_value: alternative:term "Papillon-Léage-Psaume syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females." xsd:string [Term] id: Orphanet:2751 name: Orofaciodigital syndrome type 2 xref: ICD10:Q87.0 xref: MESH:C538585 xref: OMIM:252100 xref: SNOMED CT:1779005 xref: UMLS:C0026363 xref: UMLS:C2931889 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:140997 ! Orofaciodigital syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Mohr syndrome" xsd:string property_value: alternative:term "OFD2" xsd:string property_value: alternative:term "Oral-facial-digital syndrome type 2" xsd:string [Term] id: Orphanet:2752 name: Orofaciodigital syndrome type 3 xref: ICD10:Q87.0 xref: OMIM:258850 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:140997 ! Orofaciodigital syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "OFD3" xsd:string property_value: alternative:term "Oral-facial-digital syndrome type 3" xsd:string property_value: alternative:term "Sugarman syndrome" xsd:string [Term] id: Orphanet:2753 name: Orofaciodigital syndrome type 4 xref: ICD10:Q87.0 xref: OMIM:258860 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:140997 ! Orofaciodigital syndrome relationship: part_of Orphanet:182108 ! Thoracic malformation relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:93426 ! Short rib dysplasia property_value: alternative:term "Baraitser-Burn syndrome" xsd:string property_value: alternative:term "OFD4" xsd:string property_value: alternative:term "Oral-facial-digital syndrome type 4" xsd:string [Term] id: Orphanet:2754 name: Joubert syndrome with orofaciodigital defect xref: ICD10:Q04.3 xref: ICD10:Q87.0 xref: OMIM:277170 xref: OMIM:300804 xref: OMIM:614815 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:140874 ! Joubert syndrome and related disorders relationship: part_of Orphanet:140997 ! Orofaciodigital syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:269523 ! Syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:269567 ! Genetic syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Joubert syndrome with oral-facial-digital syndrome" xsd:string property_value: alternative:term "OFD6" xsd:string property_value: alternative:term "Oral-facial-digital syndrome type 6" xsd:string property_value: alternative:term "Orofaciodigital syndrome type 6" xsd:string property_value: alternative:term "Polydactyly - cleft lip/palate - psychomotor retardation" xsd:string property_value: alternative:term "Váradi syndrome" xsd:string property_value: alternative:term "Váradi-Papp syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." xsd:string [Term] id: Orphanet:2755 name: Orofaciodigital syndrome type 8 xref: ICD10:Q87.0 xref: OMIM:300484 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:140997 ! Orofaciodigital syndrome relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "OFD8" xsd:string property_value: alternative:term "Oral-facial-digital syndrome type 8" xsd:string property_value: alternative:term "Oral-facial-digital syndrome, Edwards type" xsd:string property_value: alternative:term "Orofaciodigital syndrome, Edwards type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit." xsd:string [Term] id: Orphanet:275517 name: Autoimmune lymphoproliferative syndrome with recurrent infections xref: ICD10:D72.8 xref: OMIM:607271 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:169355 ! Immunodeficiency syndrome with autoimmunity relationship: part_of Orphanet:238510 ! Lymphoproliferative syndrome property_value: alternative:term "ALPS with recurrent infections" xsd:string [Term] id: Orphanet:275523 name: Dianzani autoimmune lymphoproliferative disease xref: ICD10:D72.8 xref: OMIM:605233 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:238510 ! Lymphoproliferative syndrome property_value: alternative:term "DALD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly" xsd:string [Term] id: Orphanet:275534 name: Myostatin-related muscle hypertrophy xref: OMIM:614160 is_a: Orphanet:377793 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! particular clinical situation in a disease or syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:275543 name: L1 syndrome xref: ICD10:Q04.8 xref: OMIM:303350 xref: OMIM:304100 xref: OMIM:307000 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:199639 ! Syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:269573 ! Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome" xsd:string property_value: alternative:term "CRASH syndrome" xsd:string property_value: alternative:term "L1CAM syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis (see these terms)." xsd:string [Term] id: Orphanet:275555 name: Preeclampsia xref: ICD10:O11 xref: ICD10:O14 xref: OMIM:189800 xref: OMIM:609402 xref: OMIM:609403 xref: OMIM:609404 xref: OMIM:614595 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:163637 ! Rare disorder related with pregnancy, childbirth and puerperium [Term] id: Orphanet:2756 name: Orofaciodigital syndrome type 10 xref: ICD10:Q87.0 xref: OMIM:165590 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:140997 ! Orofaciodigital syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Figuera syndrome" xsd:string property_value: alternative:term "OFD10" xsd:string property_value: alternative:term "Oral-facial-digital syndrome type 10" xsd:string property_value: alternative:term "Orofaciodigital syndrome with fibular aplasia" xsd:string [Term] id: Orphanet:275729 name: Rare hemorrhagic disorder due to a constitutional thrombocytopenia is_a: Orphanet:71202 ! Rare hemorrhagic disorder due to a constitutional platelet anomaly property_value: alternative:term "Rare bleeding disorder due to a constitutional thrombocytopenia" xsd:string property_value: alternative:term "Rare coagulopathy due to a constitutional thrombocytopenia" xsd:string [Term] id: Orphanet:275736 name: Rare hemorrhagic disorder due to a platelets receptors defect xref: ICD10:D69.8 is_a: Orphanet:71202 ! Rare hemorrhagic disorder due to a constitutional platelet anomaly property_value: alternative:term "Rare bleeding disorder due to a platelets receptors defect" xsd:string property_value: alternative:term "Rare coagulopathy due to a platelets receptors defect" xsd:string [Term] id: Orphanet:275742 name: Genetic infertility is_a: Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:275745 name: Alpha-thalassemia and related diseases xref: ICD10:D56.0 is_a: Orphanet:68364 ! Hemoglobinopathy [Term] id: Orphanet:275749 name: Beta-thalassemia and related diseases xref: ICD10:D56.1 is_a: Orphanet:68364 ! Hemoglobinopathy [Term] id: Orphanet:275752 name: Sickle cell disease and related diseases xref: ICD10:D57 is_a: Orphanet:68364 ! Hemoglobinopathy [Term] id: Orphanet:275761 name: Lysosomal acid lipase deficiency xref: ICD10:E75.5 xref: OMIM:278000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181437 ! Rare syndromic dyslipidemia relationship: part_of Orphanet:79204 ! Lipid storage disease property_value: alternative:term "LAL deficiency" xsd:string [Term] id: Orphanet:275766 name: Idiopathic pulmonary arterial hypertension xref: ICD10:I27.0 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:422 ! Idiopathic and/or familial pulmonary arterial hypertension property_value: alternative:term "IPAH" xsd:string [Term] id: Orphanet:275777 name: Heritable pulmonary arterial hypertension xref: ICD10:I27.0 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:422 ! Idiopathic and/or familial pulmonary arterial hypertension property_value: alternative:term "Familial pulmonary arterial hypertension" xsd:string property_value: alternative:term "FPAH" xsd:string property_value: alternative:term "Hereditary pulmonary arterial hypertension" xsd:string [Term] id: Orphanet:275786 name: Drug- or toxin-induced pulmonary arterial hypertension xref: ICD10:I27.2 is_a: Orphanet:182090 ! Pulmonary arterial hypertension property_value: alternative:term "Drug- or toxin-induced PAH" xsd:string [Term] id: Orphanet:275791 name: Pulmonary arterial hypertension associated with another disease xref: ICD10:I27.2 is_a: Orphanet:182090 ! Pulmonary arterial hypertension property_value: alternative:term "PAH associated with another disease" xsd:string property_value: alternative:term "Secondary PAH" xsd:string [Term] id: Orphanet:275798 name: Pulmonary arterial hypertension associated with connective tissue disease xref: ICD10:I27.2 is_a: Orphanet:275791 ! Pulmonary arterial hypertension associated with another disease property_value: alternative:term "PAH associated with connective tissue disease" xsd:string [Term] id: Orphanet:275803 name: Pulmonary arterial hypertension associated with congenital heart disease xref: ICD10:I27.2 is_a: Orphanet:275791 ! Pulmonary arterial hypertension associated with another disease property_value: alternative:term "PAH associated with congenital heart disease" xsd:string [Term] id: Orphanet:275808 name: Pulmonary arterial hypertension associated with HIV infection xref: ICD10:I27.2 is_a: Orphanet:275791 ! Pulmonary arterial hypertension associated with another disease property_value: alternative:term "PAH associated with HIV infaction" xsd:string [Term] id: Orphanet:275813 name: Pulmonary arterial hypertension associated with portal hypertension xref: ICD10:I27.2 is_a: Orphanet:275791 ! Pulmonary arterial hypertension associated with another disease property_value: alternative:term "PAH associated with portal hypertension" xsd:string property_value: alternative:term "POPH" xsd:string property_value: alternative:term "Portopulmonary hypertension" xsd:string [Term] id: Orphanet:275823 name: Pulmonary arterial hypertension associated with schistosomiasis xref: ICD10:I27.2 is_a: Orphanet:275791 ! Pulmonary arterial hypertension associated with another disease property_value: alternative:term "PAH associated with schistosomiasis" xsd:string [Term] id: Orphanet:275828 name: Pulmonary arterial hypertension associated with chronic hemolytic anemia xref: ICD10:I27.2 is_a: Orphanet:275791 ! Pulmonary arterial hypertension associated with another disease property_value: alternative:term "PAH associated with chronic hemolytic anemia" xsd:string [Term] id: Orphanet:275837 name: Pulmonary hypertension owing to lung disease and/or hypoxia xref: ICD10:I27.2 is_a: Orphanet:71198 ! Rare pulmonary hypertension property_value: alternative:term "PH due to lung disease and/or hypoxia" xsd:string property_value: alternative:term "PH owing to lung disease and/or hypoxia" xsd:string property_value: alternative:term "Pulmonary hypertension due to lung disease and/or hypoxia" xsd:string [Term] id: Orphanet:275844 name: Pulmonary hypertension with unclear multifactorial mechanism is_a: Orphanet:71198 ! Rare pulmonary hypertension property_value: alternative:term "PH with unclear multifactorial mechanism" xsd:string [Term] id: Orphanet:275853 name: Syndrome with pulmonary hypertension as a major feature is_a: Orphanet:71198 ! Rare pulmonary hypertension [Term] id: Orphanet:275864 name: Behavioral variant of frontotemporal dementia xref: ICD10:G31.0 xref: OMIM:600795 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:282 ! Frontotemporal dementia relationship: part_of Orphanet:306708 ! Frontotemporal neurodegeneration with movement disorder property_value: alternative:term "bv-FTD" xsd:string [Term] id: Orphanet:275872 name: Frontotemporal dementia with motor neuron disease xref: OMIM:105550 xref: OMIM:608030 xref: OMIM:612069 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:276061 ! Genetic frontotemporal degeneration with dementia relationship: part_of Orphanet:306708 ! Frontotemporal neurodegeneration with movement disorder relationship: part_of Orphanet:98535 ! Frontotemporal degeneration with dementia property_value: alternative:term "Frontotemporal dementia with amyotrophic lateral sclerosis" xsd:string property_value: alternative:term "FTD-ALS" xsd:string property_value: alternative:term "FTD-MND" xsd:string [Term] id: Orphanet:2759 name: Imperforate oropharynx - costo vetebral anomalies is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93454 ! Dysostosis with predominant vertebral and costal involvement property_value: alternative:term "Seghers syndrome" xsd:string [Term] id: Orphanet:275938 name: Hemolytic disease due to fetomaternal allo-immunization xref: ICD10:P55 is_a: Orphanet:182047 ! Rare acquired hemolytic anemia [Term] id: Orphanet:275944 name: Hemolytic disease of the newborn with Kell allo-immunization xref: ICD10:P55.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:275938 ! Hemolytic disease due to fetomaternal allo-immunization property_value: alternative:term "Maternal anti-Kell allo-immunization" xsd:string [Term] id: Orphanet:276 name: T-B+ severe combined immunodeficiency due to gamma chain deficiency xref: ICD10:D81.2 xref: OMIM:300400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:317416 ! T-B+ severe combined immunodeficiency property_value: alternative:term "IDCS T-B+ par déficit en chaîne gamma" xsd:string property_value: alternative:term "SCIDX1" xsd:string property_value: alternative:term "T-B+ SCID due to gamma chain deficiency" xsd:string property_value: alternative:term "T-B+ severe combined immunodeficiency, X-linked" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." xsd:string [Term] id: Orphanet:2760 name: OSLAM syndrome xref: ICD10:C41.9 xref: MESH:C537138 xref: OMIM:165660 xref: UMLS:C1833792 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:183527 ! Genetic bone tumor relationship: part_of Orphanet:68411 ! Rare bone tumor property_value: alternative:term "Osteosarcoma - limb anomalies - erythroid macrocytosis" xsd:string [Term] id: Orphanet:276058 name: Genetic neurodegenerative disease with dementia is_a: Orphanet:158124 ! Genetic dementia is_a: Orphanet:183500 ! Genetic neurodegenerative disease [Term] id: Orphanet:276061 name: Genetic frontotemporal degeneration with dementia is_a: Orphanet:276058 ! Genetic neurodegenerative disease with dementia [Term] id: Orphanet:276066 name: Bile acid CoA ligase deficiency and defective amidation is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163631 ! Bile acid synthesis defect with cholestasis and malabsorption [Term] id: Orphanet:276142 name: Salivary glands tumor is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98059 ! Rare digestive tumor [Term] id: Orphanet:276145 name: Malignant epithelial tumor of the salivary glands xref: ICD10:C07 xref: ICD10:C08 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:276142 ! Salivary glands tumor [Term] id: Orphanet:276148 name: Benign epithelial tumor of the salivary glands xref: ICD10:D11 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:276142 ! Salivary glands tumor [Term] id: Orphanet:276152 name: Multiple endocrine neoplasia type 4 xref: ICD10:D44.8 xref: OMIM:610755 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:100094 ! Multiple polyglandular tumor property_value: alternative:term "MEN4" xsd:string [Term] id: Orphanet:276161 name: Multiple endocrine neoplasia xref: ICD10:D44.8 is_a: Orphanet:100094 ! Multiple polyglandular tumor [Term] id: Orphanet:276174 name: Idiopathic recurrent stupor is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:276183 name: Spinocerebellar ataxia type 32 xref: ICD10:G11.8 xref: OMIM:613909 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "Cerebellar ataxia with azospermia and intellectual deficiency" xsd:string property_value: alternative:term "SCA32" xsd:string [Term] id: Orphanet:276193 name: Spinocerebellar ataxia type 35 xref: ICD10:G11.8 xref: OMIM:613908 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "SCA35" xsd:string [Term] id: Orphanet:276198 name: Spinocerebellar ataxia type 36 xref: ICD10:G11.8 xref: OMIM:614153 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "SCA36" xsd:string [Term] id: Orphanet:2762 name: Progressive osseous heteroplasia xref: ICD10:M61.5 xref: OMIM:166350 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:183472 ! Genetic dermis disorder relationship: part_of Orphanet:364531 ! Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments relationship: part_of Orphanet:79381 ! Unclassified dermis disorder property_value: alternative:term "Familial ectopic ossification" xsd:string [Term] id: Orphanet:276212 name: Mucopolysaccharidosis type 6, rapidly progressing xref: ICD10:E76.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:583 ! Mucopolysaccharidosis type 6 property_value: alternative:term "MPS6, rapidly progressing" xsd:string property_value: alternative:term "MPSVI, rapidly progressing" xsd:string property_value: alternative:term "Mucopolysaccharidosis type VI, rapidly progressing" xsd:string [Term] id: Orphanet:276223 name: Mucopolysaccharidosis type 6, slowly progressing xref: ICD10:E76.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:583 ! Mucopolysaccharidosis type 6 property_value: alternative:term "MPS6, slowly progressing" xsd:string property_value: alternative:term "MPSVI, slowly progressing" xsd:string property_value: alternative:term "Mucopolysaccharidosis type VI, slowly progressing" xsd:string [Term] id: Orphanet:276234 name: CATSPER1-related non syndromic male infertility xref: ICD10:N46 xref: OMIM:612997 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:275742 ! Genetic infertility [Term] id: Orphanet:276238 name: Machado-Joseph disease type 1 xref: ICD10:G11.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98757 ! Spinocerebellar ataxia type 3 property_value: alternative:term "SCA3, Joseph type" xsd:string [Term] id: Orphanet:276241 name: Machado-Joseph disease type 2 xref: ICD10:G11.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98757 ! Spinocerebellar ataxia type 3 property_value: alternative:term "Thomas type SCA3" xsd:string [Term] id: Orphanet:276244 name: Machado-Joseph disease type 3 xref: ICD10:G11.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98757 ! Spinocerebellar ataxia type 3 property_value: alternative:term "SCA3, Machado type" xsd:string [Term] id: Orphanet:276249 name: Xeroderma pigmentosum complementation group A xref: ICD10:Q82.1 xref: OMIM:278700 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:910 ! Xeroderma pigmentosum relationship: part_of Orphanet:98097 ! Autosomal recessive cerebellar ataxia due to a DNA repair defect property_value: alternative:term "XPA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." xsd:string [Term] id: Orphanet:276252 name: Xeroderma pigmentosum complementation group B xref: ICD10:Q82.1 xref: OMIM:610651 is_a: Orphanet:220295 ! Xeroderma pigmentosum/Cockayne syndrome complex relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:910 ! Xeroderma pigmentosum relationship: part_of Orphanet:98097 ! Autosomal recessive cerebellar ataxia due to a DNA repair defect property_value: alternative:term "XPB" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Xeroderma pigmentosum complementation group B (XPB) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." xsd:string [Term] id: Orphanet:276255 name: Xeroderma pigmentosum complementation group C xref: ICD10:Q82.1 xref: OMIM:278720 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:910 ! Xeroderma pigmentosum property_value: alternative:term "XPC" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Xeroderma pigmentosum complementation group C (XPC) is the most frequent subtype of xeroderma pigmentosum (XP, a rare photodermatosis predisposing to skin cancers; see this term) in the Caucasian population" xsd:string [Term] id: Orphanet:276258 name: Xeroderma pigmentosum complementation group D xref: ICD10:Q82.1 xref: OMIM:278730 is_a: Orphanet:220295 ! Xeroderma pigmentosum/Cockayne syndrome complex relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:910 ! Xeroderma pigmentosum relationship: part_of Orphanet:98097 ! Autosomal recessive cerebellar ataxia due to a DNA repair defect property_value: alternative:term "XPD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Xeroderma pigmentosum complementation group D (XPD) is a subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." xsd:string [Term] id: Orphanet:276261 name: Xeroderma pigmentosum complementation group E xref: ICD10:Q82.1 xref: OMIM:278740 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:910 ! Xeroderma pigmentosum property_value: alternative:term "XPE" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Xeroderma pigmentosum complementation group E (XPE) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." xsd:string [Term] id: Orphanet:276264 name: Xeroderma pigmentosum complementation group F xref: ICD10:Q82.1 xref: OMIM:278760 is_a: Orphanet:220295 ! Xeroderma pigmentosum/Cockayne syndrome complex relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:910 ! Xeroderma pigmentosum property_value: alternative:term "XPF" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Xeroderma pigmentosum complementation group F (XPF) is a generally milder subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." xsd:string [Term] id: Orphanet:276267 name: Xeroderma pigmentosum complementation group G xref: ICD10:Q82.1 xref: OMIM:278780 is_a: Orphanet:220295 ! Xeroderma pigmentosum/Cockayne syndrome complex relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:910 ! Xeroderma pigmentosum relationship: part_of Orphanet:98097 ! Autosomal recessive cerebellar ataxia due to a DNA repair defect property_value: alternative:term "XPG" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Xeroderma pigmentosum complementation group G (XPG) is an extremely rare subtype of xeroderma pigmentosum (XP; see this term), a rare photodermatosis predisposing to skin cancers." xsd:string [Term] id: Orphanet:276280 name: Hemihyperplasia-multiple lipomatosis syndrome xref: ICD10:Q87.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:211240 ! Genetic vascular anomaly relationship: part_of Orphanet:211277 ! Complex - combined vascular malformation relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma relationship: part_of Orphanet:93460 ! Overgrowth syndrome relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis property_value: alternative:term "HHML" xsd:string [Term] id: Orphanet:2763 name: Osteocraniostenosis xref: ICD10:Q78.0 xref: OMIM:602361 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93440 ! Slender bone dysplasia property_value: alternative:term "Gracile bone dysplasia" xsd:string property_value: alternative:term "Osteocraniosplenic syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverloaf anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization." xsd:string [Term] id: Orphanet:276399 name: Familial multinodular goiter xref: ICD10:E04.2 xref: OMIM:138800 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101955 ! Rare thyroid disease relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:183631 ! Rare genetic thyroid disease property_value: alternative:term "Familial MNG" xsd:string property_value: alternative:term "FMNG" xsd:string [Term] id: Orphanet:2764 name: Osteochondritis dissecans xref: ICD10:M93.2 xref: MEDDRA:10031231 xref: MESH:D010008 xref: SNOMED CT:82562007 xref: UMLS:C0029421 is_a: Orphanet:183524 ! Rare genetic bone disease is_a: Orphanet:93419 ! Rare bone disease [Term] id: Orphanet:276402 name: Limbic encephalitis with caspr2 antibodies is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163918 ! Non-paraneoplastic limbic encephalitis [Term] id: Orphanet:276405 name: Hyperbiliverdinemia xref: ICD10:K76.8 xref: OMIM:614156 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:156601 ! Rare genetic hepatic disease relationship: part_of Orphanet:57146 ! Rare hepatic disease property_value: alternative:term "Green jaundice" xsd:string [Term] id: Orphanet:276413 name: 10q22.3q23.3 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:262083 ! Partial monosomy of the long arm of chromosome 10 property_value: alternative:term "Del(10)(q22.3q23.3)" xsd:string property_value: alternative:term "Deletion 10q22.3q23.3" xsd:string property_value: alternative:term "Monosomy 10q22.3q23.3" xsd:string [Term] id: Orphanet:276422 name: 10q22.3q23.3 microduplication syndrome xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:262914 ! Partial duplication of the long arm of chromosome 10 property_value: alternative:term "Dup(10)(q22.3q23.3)" xsd:string property_value: alternative:term "Trisomy 10q22.3q23.3" xsd:string [Term] id: Orphanet:276429 name: Hypnic headache xref: ICD10:G44.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98022 ! Rare headache [Term] id: Orphanet:276432 name: Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome xref: OMIM:300855 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139033 ! Progeroid syndrome relationship: part_of Orphanet:363245 ! Genetic progeroid syndrome property_value: alternative:term "Ogden syndrome" xsd:string [Term] id: Orphanet:276435 name: Lower motor neuron syndrome with late-adult onset xref: ICD10:G12.1 xref: OMIM:615048 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:211037 ! Autosomal dominant proximal spinal muscular atrophy [Term] id: Orphanet:276525 name: Familial hyperinsulinism xref: ICD10:E16.1 is_a: Orphanet:156638 ! Rare genetic endocrine disease is_a: Orphanet:97978 ! Rare endocrine disease property_value: alternative:term "Familial hyperinsulinemic hypoglycemia" xsd:string property_value: alternative:term "FHI" xsd:string [Term] id: Orphanet:276556 name: Hyperinsulinism due to UCP2 deficiency xref: ICD10:E16.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:165985 ! Diazoxide-sensitive diffuse hyperinsulinism property_value: alternative:term "Hyperinsulinemic hypoglycemia due to UCP2 deficiency" xsd:string [Term] id: Orphanet:276575 name: Autosomal dominant hyperinsulinism due to SUR1 deficiency xref: ICD10:E16.1 xref: OMIM:256450 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:165985 ! Diazoxide-sensitive diffuse hyperinsulinism property_value: alternative:term "Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency" xsd:string [Term] id: Orphanet:276580 name: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency xref: ICD10:E16.1 xref: OMIM:601820 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:165985 ! Diazoxide-sensitive diffuse hyperinsulinism property_value: alternative:term "Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" xsd:string [Term] id: Orphanet:276585 name: Diazoxide-resistant hyperinsulinism xref: ICD10:E16.1 is_a: Orphanet:657 ! Congenital isolated hyperinsulinism property_value: alternative:term "Diazoxide-resistant hyperinsulinemic hypoglycemia" xsd:string [Term] id: Orphanet:276598 name: Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency xref: ICD10:E16.1 xref: OMIM:256450 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79298 ! Diazoxide-resistant focal hyperinsulinism property_value: alternative:term "Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form" xsd:string [Term] id: Orphanet:276603 name: Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency xref: ICD10:E16.1 xref: OMIM:601820 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79298 ! Diazoxide-resistant focal hyperinsulinism property_value: alternative:term "Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form" xsd:string [Term] id: Orphanet:276608 name: Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia xref: ICD10:E16.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:276525 ! Familial hyperinsulinism property_value: alternative:term "NI-PHH" xsd:string [Term] id: Orphanet:276621 name: Sporadic pheochromocytoma/secreting paraganglioma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:717 ! Catecholamine-producing tumor [Term] id: Orphanet:276624 name: Sporadic pheochromocytoma is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:276621 ! Sporadic pheochromocytoma/secreting paraganglioma [Term] id: Orphanet:276627 name: Sporadic secreting paraganglioma is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:276621 ! Sporadic pheochromocytoma/secreting paraganglioma [Term] id: Orphanet:276630 name: Symptomatic form of Coffin-Lowry syndrome in female carriers xref: ICD10:Q87.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit [Term] id: Orphanet:2767 name: Carpotarsal osteochondromatosis xref: ICD10:Q74.8 xref: OMIM:127820 xref: SNOMED CT:389272007 xref: UMLS:C1300233 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components property_value: alternative:term "Maroteaux-Le Merrer-Bensahel syndrome" xsd:string [Term] id: Orphanet:2768 name: Blount disease xref: ICD10:M92.5 xref: MESH:C536237 xref: OMIM:188700 xref: OMIM:259200 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93439 ! Bent bone dysplasia property_value: alternative:term "Infantile tibia vara" xsd:string property_value: alternative:term "Osteochondrosis deformans tibiae" xsd:string property_value: alternative:term "Tibia vara Blount" xsd:string [Term] id: Orphanet:2769 name: Familial osteodysplasia, Anderson type xref: OMIM:259250 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93453 ! Dysostosis with predominant craniofacial involvement [Term] id: Orphanet:277 name: Severe combined immunodeficiency due to adenosine deaminase deficiency xref: ICD10:D81.3 xref: MEDDRA:10066367 xref: MESH:C531816 xref: OMIM:102700 xref: UMLS:C0392607 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:317419 ! T-B- severe combined immunodeficiency relationship: part_of Orphanet:79191 ! Disorder of purine metabolism property_value: alternative:term "ADA deficiency" xsd:string property_value: alternative:term "SCID due to adenosine deaminase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections." xsd:string [Term] id: Orphanet:2770 name: Nasu-Hakola disease xref: ICD10:E75.2 xref: MESH:C536329 xref: OMIM:221770 xref: UMLS:C1857316 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68356 ! Leukodystrophy relationship: part_of Orphanet:93449 ! Primary osteolysis property_value: alternative:term "NHD" xsd:string property_value: alternative:term "PLO-SL" xsd:string property_value: alternative:term "PLOSL" xsd:string property_value: alternative:term "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities." xsd:string [Term] id: Orphanet:2771 name: Bruck syndrome xref: ICD10:M21.8 xref: MEDDRA:10063718 xref: OMIM:259450 xref: OMIM:609220 xref: SNOMED CT:254113006 xref: UMLS:C0432253 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:167762 ! Rare disease with dentinogenesis imperfecta relationship: part_of Orphanet:93446 ! Primary bone dysplasia with decreased bone density property_value: alternative:term "Osteogenesis imperfecta - congenital joint contractures" xsd:string [Term] id: Orphanet:2772 name: Congenital osteogenesis imperfecta - microcephaly - cataracts xref: ICD10:Q78.0 xref: MESH:C537558 xref: OMIM:259410 xref: UMLS:C1850184 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93446 ! Primary bone dysplasia with decreased bone density [Term] id: Orphanet:2773 name: Osteogenesis imperfecta - retinopathy - seizures - intellectual deficit xref: ICD10:Q87.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93446 ! Primary bone dysplasia with decreased bone density property_value: alternative:term "Al Gazali-Nair syndrome" xsd:string [Term] id: Orphanet:2774 name: Multicentric carpo-tarsal osteolysis with or without nephropathy xref: OMIM:166300 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93449 ! Primary osteolysis relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Idiopathic multicentric osteolysis with or without nephropathy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities." xsd:string [Term] id: Orphanet:2775 name: Autosomal recessive carpotarsal osteolysis is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_3460 with label: Torg-Winchester syndrome" xsd:string [Term] id: Orphanet:2776 name: Autosomal recessive distal osteolysis syndrome xref: OMIM:259610 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93449 ! Primary osteolysis property_value: alternative:term "Distal osteolysis - short stature - intellectual deficit" xsd:string property_value: alternative:term "Petit-Fryns syndrome" xsd:string [Term] id: Orphanet:2777 name: Osteomesopyknosis xref: ICD10:Q78.2 xref: OMIM:166450 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:2781 ! Osteopetrosis property_value: alternative:term "Axial osteosclerosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content." xsd:string [Term] id: Orphanet:2778 name: Juvenile chronic recurrent multifocal osteomyelitis xref: ICD10:M86.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:290842 ! Autoinflammatory syndrome with skin involvement relationship: part_of Orphanet:324964 ! Chronic recurrent multifocal osteomyelitis property_value: alternative:term "Juvenile CRMO" xsd:string [Term] id: Orphanet:2779 name: Osteopathia striata - pigmentary dermopathy - white forelock xref: ICD10:Q77.8 xref: OMIM:311280 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density property_value: alternative:term "Whyte-Murphy syndrome" xsd:string [Term] id: Orphanet:278 name: Corticobasal degeneration xref: ICD10:G31.0 xref: SNOMED CT:18842008 xref: UMLS:C0393570 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:306708 ! Frontotemporal neurodegeneration with movement disorder relationship: part_of Orphanet:98535 ! Frontotemporal degeneration with dementia [Term] id: Orphanet:2780 name: Osteopathia striata - cranial sclerosis xref: ICD10:Q78.8 xref: MESH:C536053 xref: OMIM:300373 xref: SNOMED CT:254129003 xref: UMLS:C0432268 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2781 ! Osteopetrosis property_value: alternative:term "Hyperostosis generalisata with striations" xsd:string property_value: alternative:term "Robinow-Unger syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." xsd:string [Term] id: Orphanet:2781 name: Osteopetrosis xref: ICD10:Q78.2 xref: MEDDRA:10031280 xref: MESH:D010022 xref: SNOMED CT:1926006 is_a: Orphanet:93444 ! Primary bone dysplasia with increased bone density property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs." xsd:string [Term] id: Orphanet:2783 name: Autosomal dominant osteopetrosis type 1 xref: ICD10:Q78.2 xref: MESH:C536056 xref: OMIM:607634 xref: UMLS:C2931097 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2781 ! Osteopetrosis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault." xsd:string [Term] id: Orphanet:2785 name: Osteopetrosis with renal tubular acidosis xref: ICD10:Q78.2 xref: MESH:C536058 xref: OMIM:259730 xref: OMIM:267200 xref: SNOMED CT:254122007 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2781 ! Osteopetrosis relationship: part_of Orphanet:314822 ! Primary renal tubular acidosis property_value: alternative:term "Carbonic anhydrase 2 deficiency" xsd:string property_value: alternative:term "Guibaud-Vainsel syndrome" xsd:string property_value: alternative:term "Marble brain disease" xsd:string property_value: alternative:term "Mixed renal tubular acidosis" xsd:string property_value: alternative:term "Mixed RTA" xsd:string property_value: alternative:term "Renal tubular acidosis type 3" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications." xsd:string [Term] id: Orphanet:2786 name: Osteoporosis - oculocutaneous hypopigmentation syndrome xref: OMIM:601220 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93446 ! Primary bone dysplasia with decreased bone density property_value: alternative:term "Hernández-Fragoso syndrome" xsd:string property_value: alternative:term "OOCHS" xsd:string [Term] id: Orphanet:2787 name: Osteoporosis - macrocephaly - blindness - joint hyperlaxity is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93446 ! Primary bone dysplasia with decreased bone density property_value: alternative:term "Heide syndrome" xsd:string [Term] id: Orphanet:2788 name: Osteoporosis - pseudoglioma xref: ICD10:Q87.5 xref: MEDDRA:10052452 xref: MESH:C536063 xref: OMIM:259770 xref: SNOMED CT:254112001 xref: UMLS:C0432252 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:93446 ! Primary bone dysplasia with decreased bone density relationship: part_of Orphanet:98669 ! Congenital vitreoretinal dysplasia property_value: alternative:term "Ocular form of osteogenesis imperfecta" xsd:string property_value: alternative:term "OPPG" xsd:string [Term] id: Orphanet:2789 name: Lateral meningocele syndrome xref: ICD10:Q87.5 xref: OMIM:130720 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:268843 ! Malformation of the neurenteric canal, spinal cord and column relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density property_value: alternative:term "Lehman syndrome" xsd:string [Term] id: Orphanet:2790 name: Autosomal dominant osteosclerosis, Worth type xref: ICD10:Q78.2 xref: OMIM:144750 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density property_value: alternative:term "Endosteal hyperostosis, Worth type" xsd:string property_value: alternative:term "Worth syndrome" xsd:string [Term] id: Orphanet:2791 name: Otodental syndrome xref: ICD10:K00.2 xref: OMIM:166750 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:262092 ! Partial deletion of the long arm of chromosome 11 property_value: alternative:term "Globodontia" xsd:string property_value: alternative:term "Otodental dysplasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." xsd:string [Term] id: Orphanet:2792 name: Otofaciocervical syndrome xref: ICD10:Q87.0 xref: OMIM:166780 xref: OMIM:615560 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome property_value: alternative:term "Fara-Chlupackova syndrome" xsd:string property_value: alternative:term "OFC syndrome" xsd:string [Term] id: Orphanet:2795 name: Polycystic ovaries - urethral sphincter dysfunction is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101433 ! Rare urogenital disease relationship: part_of Orphanet:180303 ! Rare non-malformative uterine adnexal disease property_value: alternative:term "Fowler-Christmas-Chapple syndrome" xsd:string [Term] id: Orphanet:2796 name: Pachydermoperiostosis xref: ICD10:M89.4 xref: MEDDRA:10051686 xref: OMIM:167100 xref: OMIM:259100 xref: OMIM:614441 xref: SNOMED CT:88220006 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183472 ! Genetic dermis disorder relationship: part_of Orphanet:248095 ! Primary hypertrophic osteoarthropathy relationship: part_of Orphanet:79381 ! Unclassified dermis disorder property_value: alternative:term "PDP" xsd:string property_value: alternative:term "Touraine-Solente-Gole syndrome" xsd:string [Term] id: Orphanet:279603 name: neurobeachin-like 2 xref: ENSEMBL:ENSG00000160796 xref: GENATLAS:NBEAL2 xref: HGNC:31928 xref: OMIM:614169 xref: UNIPROTKB/SWISSPROT:Q6ZNJ1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:721 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gray platelet syndrome property_value: alternative:term "KIAA0540" xsd:string property_value: symbol "NBEAL2" xsd:string [Term] id: Orphanet:279606 name: dedicator of cytokinesis 6 xref: ENSEMBL:ENSG00000130158 xref: GENATLAS:DOCK6 xref: HGNC:19189 xref: OMIM:614194 xref: REACTOME:Q96HP0 xref: UNIPROTKB/SWISSPROT:Q96HP0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:974 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adams-Oliver syndrome property_value: alternative:term "KIAA1395" xsd:string property_value: alternative:term "ZIR1" xsd:string property_value: symbol "DOCK6" xsd:string [Term] id: Orphanet:279640 name: myostatin xref: ENSEMBL:ENSG00000138379 xref: GENATLAS:MSTN xref: HGNC:4223 xref: OMIM:601788 xref: UNIPROTKB/SWISSPROT:O14793 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:275534 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myostatin-related muscle hypertrophy property_value: alternative:term "GDF8" xsd:string property_value: alternative:term "Growth differentiation factor 8" xsd:string property_value: symbol "MSTN" xsd:string [Term] id: Orphanet:279644 name: transglutaminase 6 xref: ENSEMBL:ENSG00000166948 xref: GENATLAS:TGM6 xref: HGNC:16255 xref: OMIM:613900 xref: UNIPROTKB/SWISSPROT:O95932 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:276193 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 35 property_value: alternative:term "dJ734P14.3" xsd:string property_value: alternative:term "SCA35" xsd:string property_value: alternative:term "spinocerebellar ataxia 35" xsd:string property_value: alternative:term "TGM3L" xsd:string property_value: alternative:term "TGY" xsd:string property_value: alternative:term "transglutaminase 3-like" xsd:string property_value: symbol "TGM6" xsd:string [Term] id: Orphanet:279649 name: NOP56 ribonucleoprotein xref: ENSEMBL:ENSG00000101361 xref: GENATLAS:NOL5A xref: HGNC:15911 xref: OMIM:614154 xref: REACTOME:O00567 xref: UNIPROTKB/SWISSPROT:O00567 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:276198 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 36 property_value: alternative:term "NOL5A" xsd:string property_value: alternative:term "NOP56 ribonucleoprotein homolog (yeast)" xsd:string property_value: alternative:term "nucleolar protein 5A" xsd:string property_value: alternative:term "nucleolar protein 5A (56kD with KKE/D repeat)" xsd:string property_value: alternative:term "nucleolar protein 5A (56kDa with KKE/D repeat)" xsd:string property_value: alternative:term "SCA36" xsd:string property_value: alternative:term "spinocerebellar ataxia 36" xsd:string property_value: symbol "NOP56" xsd:string [Term] id: Orphanet:279661 name: cation channel, sperm associated 1 xref: ENSEMBL:ENSG00000175294 xref: GENATLAS:CATSPER1 xref: HGNC:17116 xref: IUPHAR:388 xref: OMIM:606389 xref: REACTOME:Q8NEC5 xref: UNIPROTKB/SWISSPROT:Q8NEC5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:276234 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CATSPER1-related non syndromic male infertility property_value: alternative:term "CATSPER" xsd:string property_value: symbol "CATSPER1" xsd:string [Term] id: Orphanet:279753 name: B9 protein domain 2 xref: ENSEMBL:ENSG00000123810 xref: GENATLAS:B9D2 xref: HGNC:28636 xref: OMIM:611951 xref: REACTOME:Q9BPU9 xref: UNIPROTKB/SWISSPROT:Q9BPU9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:564 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Meckel syndrome property_value: alternative:term "MGC4093" xsd:string property_value: symbol "B9D2" xsd:string [Term] id: Orphanet:279756 name: mannosidase, alpha, class 1B, member 1 xref: ENSEMBL:ENSG00000177239 xref: GENATLAS:MAN1B1 xref: HGNC:6823 xref: OMIM:604346 xref: REACTOME:Q9UKM7 xref: UNIPROTKB/SWISSPROT:Q9UKM7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88616 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive nonsyndromic intellectual deficit property_value: alternative:term "Alpha 1,2-mannosidase" xsd:string property_value: alternative:term "Endoplasmic reticulum alpha-mannosidase 1" xsd:string property_value: alternative:term "Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1" xsd:string property_value: alternative:term "ER alpha 1,2-mannosidase" xsd:string property_value: alternative:term "Man9GlcNAc2-specific processing alpha-mannosidase" xsd:string property_value: alternative:term "MANA-ER" xsd:string property_value: symbol "MAN1B1" xsd:string [Term] id: Orphanet:279764 name: mediator complex subunit 23 xref: ENSEMBL:ENSG00000112282 xref: GENATLAS:MED23 xref: HGNC:2372 xref: OMIM:605042 xref: REACTOME:Q9ULK4 xref: UNIPROTKB/SWISSPROT:Q9ULK4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88616 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive nonsyndromic intellectual deficit property_value: alternative:term "cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa" xsd:string property_value: alternative:term "CRSP130" xsd:string property_value: alternative:term "CRSP3" xsd:string property_value: alternative:term "DRIP130" xsd:string property_value: alternative:term "Sur2" xsd:string property_value: symbol "MED23" xsd:string [Term] id: Orphanet:279771 name: kinesin family member 1A xref: ENSEMBL:ENSG00000130294 xref: GENATLAS:KIF1A xref: HGNC:888 xref: OMIM:601255 xref: UNIPROTKB/SWISSPROT:Q12756 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101010 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 30 relationship: Orphanet:317343 Orphanet:178469 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic intellectual deficit relationship: Orphanet:317343 Orphanet:970 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary sensory and autonomic neuropathy type 2 property_value: alternative:term "ATSV" xsd:string property_value: alternative:term "axonal transport of synaptic vesicles" xsd:string property_value: alternative:term "C2orf20" xsd:string property_value: alternative:term "chromosome 2 open reading frame 20" xsd:string property_value: alternative:term "spastic paraplegia 30 (autosomal recessive)" xsd:string property_value: alternative:term "SPG30" xsd:string property_value: alternative:term "UNC104" xsd:string property_value: symbol "KIF1A" xsd:string [Term] id: Orphanet:279776 name: cell adhesion associated, oncogene regulated xref: ENSEMBL:ENSG00000064309 xref: GENATLAS:CDON xref: HGNC:17104 xref: OMIM:608707 xref: REACTOME:Q4KMG0 xref: UNIPROTKB/SWISSPROT:Q4KMG0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220386 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Semilobar holoprosencephaly relationship: Orphanet:317343 Orphanet:280195 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Septopreoptic holoprosencephaly relationship: Orphanet:317343 Orphanet:280200 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microform holoprosencephaly relationship: Orphanet:317343 Orphanet:93924 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93925 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93926 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Midline interhemispheric variant of holoprosencephaly property_value: alternative:term "CDO" xsd:string property_value: alternative:term "Cdon homolog (mouse)" xsd:string property_value: alternative:term "CDON1" xsd:string property_value: alternative:term "cell adhesion molecule-related/down-regulated by oncogenes" xsd:string property_value: alternative:term "ORCAM" xsd:string property_value: symbol "CDON" xsd:string [Term] id: Orphanet:279781 name: DnaJ (Hsp40) homolog, subfamily C, member 5 xref: ENSEMBL:ENSG00000101152 xref: GENATLAS:DNAJC5 xref: HGNC:16235 xref: OMIM:611203 xref: REACTOME:Q9H3Z4 xref: UNIPROTKB/SWISSPROT:Q9H3Z4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:228343 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CLN4B disease property_value: alternative:term "ceroid-lipofuscinosis, neuronal 4 (Kufs disease)" xsd:string property_value: alternative:term "CLN4" xsd:string property_value: alternative:term "DNAJC5A" xsd:string property_value: alternative:term "FLJ00118" xsd:string property_value: alternative:term "FLJ13070" xsd:string property_value: symbol "DNAJC5" xsd:string [Term] id: Orphanet:2798 name: Pachygyria - intellectual deficit - epilepsy xref: OMIM:600176 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:166478 ! Cerebral malformation with epilepsy relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Kuzniecky syndrome" xsd:string [Term] id: Orphanet:279838 name: cytochrome P450, family 24, subfamily A, polypeptide 1 xref: ENSEMBL:ENSG00000019186 xref: GENATLAS:CYP24A1 xref: HGNC:2602 xref: OMIM:126065 xref: REACTOME:Q07973 xref: UNIPROTKB/SWISSPROT:Q07973 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:300547 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive infantile hypercalcemia property_value: alternative:term "CP24" xsd:string property_value: alternative:term "CYP24" xsd:string property_value: alternative:term "cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)" xsd:string property_value: alternative:term "P450-CC24" xsd:string property_value: symbol "CYP24A1" xsd:string [Term] id: Orphanet:279882 name: Spasmus nutans xref: ICD10:F98.4 is_a: Orphanet:377792 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101949 ! Rare acquired eye disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis." xsd:string [Term] id: Orphanet:279888 name: Acute endophthalmitis xref: ICD10:H44.0 xref: ICD10:H44.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:199323 ! Endophthalmitis [Term] id: Orphanet:279891 name: Chronic endophthalmitis xref: ICD10:H44.0 xref: ICD10:H44.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:199323 ! Endophthalmitis [Term] id: Orphanet:279894 name: Toxic maculopathy due to antimalarial drugs xref: ICD10:H35.3 xref: ICD10:Y41.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101949 ! Rare acquired eye disease [Term] id: Orphanet:279897 name: Primary oculocerebral lymphoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101950 ! Rare eye tumor relationship: part_of Orphanet:279911 ! Primary organ-specific lymphoma relationship: part_of Orphanet:98062 ! Rare nervous system tumor property_value: alternative:term "Primary oculocerebral non-Hodgkin's lymphoma" xsd:string [Term] id: Orphanet:279904 name: Primary intraocular lymphoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101950 ! Rare eye tumor relationship: part_of Orphanet:279911 ! Primary organ-specific lymphoma property_value: alternative:term "PIOL" xsd:string property_value: alternative:term "Primary intraocular non-Hodgkin's lymphoma" xsd:string [Term] id: Orphanet:279911 name: Primary organ-specific lymphoma is_a: Orphanet:223735 ! Lymphoma [Term] id: Orphanet:279914 name: Intermediate uveitis xref: ICD10:H30.2 is_a: Orphanet:98715 ! Uveitis property_value: alternative:term "IU" xsd:string [Term] id: Orphanet:279919 name: Infectious posterior uveitis is_a: Orphanet:280892 ! Posterior uveitis [Term] id: Orphanet:279922 name: Infectious anterior uveitis xref: ICD10:H20 is_a: Orphanet:280886 ! Anterior uveitis [Term] id: Orphanet:279925 name: Infectious panuveitis xref: ICD10:H44.1 is_a: Orphanet:280898 ! Panuveitis [Term] id: Orphanet:279928 name: Paraneoplastic uveitis is_a: Orphanet:90061 ! Non-infectious posterior uveitis [Term] id: Orphanet:279934 name: Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency xref: OMIM:251880 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:254871 ! Mitochondrial DNA depletion syndrome, hepatocerebral form relationship: part_of Orphanet:79191 ! Disorder of purine metabolism [Term] id: Orphanet:279943 name: Hereditary neutrophilia xref: OMIM:162830 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183770 ! Rare genetic immune disease relationship: part_of Orphanet:98004 ! Rare immune disease [Term] id: Orphanet:279947 name: Postorgasmic illness syndrome is_a: Orphanet:377792 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101433 ! Rare urogenital disease property_value: alternative:term "POIS" xsd:string [Term] id: Orphanet:28 name: Vitamin B12-responsive methylmalonic acidemia xref: ICD10:E71.1 xref: OMIM:251100 xref: OMIM:251110 xref: OMIM:277410 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:293355 ! Methylmalonic acidemia without homocystinuria relationship: part_of Orphanet:79171 ! Disorder of cobalamin metabolism and transport relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease property_value: alternative:term "Adenosylcobalamin deficiency" xsd:string property_value: alternative:term "Vitamin B12-responsive methylmalonic aciduria" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "v2)." xsd:string [Term] id: Orphanet:280 name: Wolf-Hirschhorn syndrome xref: ICD10:Q93.3 xref: MEDDRA:10050361 xref: MESH:C536740 xref: MESH:D054877 xref: OMIM:194190 xref: SNOMED CT:17122004 xref: UMLS:C1956097 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:108979 ! Syndromic diaphragmatic or abdominal wall malformation relationship: part_of Orphanet:166469 ! Chromosomal anomaly with epilepsy as a major feature relationship: part_of Orphanet:180779 ! Syndromic diaphragmatic or thoracic malformation relationship: part_of Orphanet:261884 ! Partial deletion of the short arm of chromosome 4 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98642 ! Chromosomal anomaly with cataract property_value: alternative:term "4p- syndrome" xsd:string property_value: alternative:term "Distal deletion 4p" xsd:string property_value: alternative:term "Distal monosomy 4p" xsd:string property_value: alternative:term "Telomeric deletion 4p" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia." xsd:string [Term] id: Orphanet:2800 name: Extramammary Paget disease xref: ICD10:C44 xref: MEDDRA:10033366 xref: MEDDRA:10068223 xref: MESH:D010145 xref: OMIM:167300 xref: SNOMED CT:232336001 xref: SNOMED CT:71447003 xref: UMLS:C0030186 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma relationship: part_of Orphanet:98063 ! Rare gynecological tumor [Term] id: Orphanet:280062 name: Calciphylaxis xref: ICD10:E83.5 is_a: Orphanet:182222 ! Rare systemic disease is_a: Orphanet:68362 ! Rare vascular disease [Term] id: Orphanet:280065 name: Calciphylaxis cutis xref: ICD10:E83.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:280062 ! Calciphylaxis relationship: part_of Orphanet:79379 ! Skin vascular disease [Term] id: Orphanet:280068 name: Visceral calciphylaxis xref: ICD10:E83.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:280062 ! Calciphylaxis [Term] id: Orphanet:280071 name: ALG11-CDG xref: ICD10:E77.8 xref: OMIM:613661 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type Ip" xsd:string property_value: alternative:term "CDG syndrome type 1p" xsd:string property_value: alternative:term "CDG-Ip" xsd:string property_value: alternative:term "CDG1P" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type 1p" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type Ip" xsd:string [Term] id: Orphanet:280090 name: ALG11, alpha-1,2-mannosyltransferase xref: ENSEMBL:ENSG00000253710 xref: GENATLAS:ALG11 xref: HGNC:32456 xref: OMIM:613666 xref: REACTOME:Q2TAA5 xref: UNIPROTKB/SWISSPROT:Q2TAA5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280071 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! ALG11-CDG property_value: alternative:term "asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)" xsd:string property_value: alternative:term "Asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)" xsd:string property_value: alternative:term "GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase" xsd:string property_value: alternative:term "KIAA0266" xsd:string property_value: symbol "ALG11" xsd:string [Term] id: Orphanet:280099 name: tubulin, beta 1 class VI xref: ENSEMBL:ENSG00000101162 xref: GENATLAS:TUBB1 xref: HGNC:16257 xref: OMIM:612901 xref: REACTOME:Q9H4B7 xref: UNIPROTKB/SWISSPROT:Q9H4B7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:140957 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal dominant macrothrombocytopenia property_value: alternative:term "Class VI beta-tubulin" xsd:string property_value: alternative:term "dJ543J19.4" xsd:string property_value: alternative:term "tubulin, beta 1" xsd:string property_value: symbol "TUBB1" xsd:string [Term] id: Orphanet:2801 name: Juvenile Paget disease xref: ICD10:M88 xref: OMIM:239000 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density property_value: alternative:term "Familial osteoectasia" xsd:string property_value: alternative:term "Hereditary hyperphosphatasia" xsd:string property_value: alternative:term "Hyperostosid corticalis deformans juvenilis" xsd:string property_value: alternative:term "JPG" xsd:string property_value: alternative:term "Juvenile Paget's disease" xsd:string [Term] id: Orphanet:280122 name: sequestosome 1 xref: ENSEMBL:ENSG00000161011 xref: GENATLAS:SQSTM1 xref: HGNC:11280 xref: OMIM:601530 xref: REACTOME:Q13501 xref: UNIPROTKB/SWISSPROT:Q13501 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis property_value: alternative:term "A170" xsd:string property_value: alternative:term "OSIL" xsd:string property_value: alternative:term "oxidative stress induced like" xsd:string property_value: alternative:term "p60" xsd:string property_value: alternative:term "p62" xsd:string property_value: alternative:term "p62B" xsd:string property_value: alternative:term "Paget disease of bone 3" xsd:string property_value: alternative:term "PDB3" xsd:string property_value: symbol "SQSTM1" xsd:string [Term] id: Orphanet:280133 name: Complement component 3 deficiency xref: ICD10:D84.1 xref: OMIM:613779 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101992 ! Immunodeficiency due to a complement cascade protein anomaly property_value: alternative:term "C3 deficiency" xsd:string [Term] id: Orphanet:280142 name: Severe combined immunodeficiency due to LCK deficiency xref: ICD10:D81.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:317419 ! T-B- severe combined immunodeficiency property_value: alternative:term "SCID due to LCK deficiency" xsd:string property_value: alternative:term "SCID due to lymphocyte-specific protein tyrosine kinase deficiency" xsd:string property_value: alternative:term "Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency" xsd:string [Term] id: Orphanet:280151 name: lymphocyte-specific protein tyrosine kinase xref: ENSEMBL:ENSG00000182866 xref: GENATLAS:LCK xref: HGNC:6524 xref: IUPHAR:2053 xref: OMIM:153390 xref: REACTOME:P06239 xref: UNIPROTKB/SWISSPROT:P06239 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280142 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe combined immunodeficiency due to LCK deficiency property_value: symbol "LCK" xsd:string [Term] id: Orphanet:280183 name: Methylmalonic aciduria due to transcobalamin receptor defect xref: ICD10:E71.1 xref: OMIM:613646 is_a: Orphanet:377790 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! biological anamoly relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79171 ! Disorder of cobalamin metabolism and transport property_value: alternative:term "Methylmalonic acidemia, TCb1R type" xsd:string property_value: alternative:term "Methylmalonic acidemia, TCbIR type" xsd:string [Term] id: Orphanet:280190 name: CD320 molecule xref: ENSEMBL:ENSG00000167775 xref: GENATLAS:CD320 xref: HGNC:16692 xref: OMIM:606475 xref: REACTOME:Q9NPF0 xref: UNIPROTKB/SWISSPROT:Q9NPF0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280183 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Methylmalonic aciduria due to transcobalamin receptor defect property_value: alternative:term "8D6" xsd:string property_value: alternative:term "8D6 antigen" xsd:string property_value: alternative:term "8D6A" xsd:string property_value: alternative:term "CD320 antigen" xsd:string property_value: symbol "CD320" xsd:string [Term] id: Orphanet:280195 name: Septopreoptic holoprosencephaly xref: ICD10:Q04.2 is_a: Orphanet:93924 ! Lobar holoprosencephaly relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Septopreoptic HPE" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion." xsd:string [Term] id: Orphanet:2802 name: X-linked sideroblastic anemia - ataxia xref: ICD10:D64.0 xref: OMIM:301310 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:247765 ! X-linked cerebellar ataxia relationship: part_of Orphanet:254837 ! Unspecified mitochondrial disorder relationship: part_of Orphanet:98362 ! Constitutional sideroblastic anemia [Term] id: Orphanet:280200 name: Microform holoprosencephaly xref: ICD10:Q04.2 xref: OMIM:147250 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:2162 ! Holoprosencephaly property_value: alternative:term "Microform HPE" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage." xsd:string [Term] id: Orphanet:280205 name: Laryngo-tracheo-esophageal cleft type 0 xref: ICD10:Q32.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2004 ! Laryngo-tracheo-esophageal cleft property_value: alternative:term "LTEC0" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course." xsd:string [Term] id: Orphanet:280210 name: Pelizaeus-Merzbacher disease, connatal form xref: ICD10:E75.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:702 ! Pelizaeus-Merzbacher disease property_value: alternative:term "Connatal PMD" xsd:string property_value: alternative:term "Pelizaeus-Merzbacher disease type II" xsd:string property_value: alternative:term "Severe PMD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term)." xsd:string [Term] id: Orphanet:280219 name: Pelizaeus-Merzbacher disease, classic form xref: ICD10:E75.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:702 ! Pelizaeus-Merzbacher disease property_value: alternative:term "classic PMD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD." xsd:string [Term] id: Orphanet:280224 name: Pelizaeus-Merzbacher disease, transitional form xref: ICD10:E75.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:702 ! Pelizaeus-Merzbacher disease property_value: alternative:term "Transitional PMD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term)." xsd:string [Term] id: Orphanet:280229 name: Pelizaeus-Merzbacher disease in female carriers xref: ICD10:E75.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:702 ! Pelizaeus-Merzbacher disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " gene (Xq22)." xsd:string [Term] id: Orphanet:280234 name: Null syndrome xref: ICD10:E75.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:702 ! Pelizaeus-Merzbacher disease property_value: alternative:term "Pelizaeus-Merzbacher disease, null syndrome" xsd:string property_value: alternative:term "PLP1 null syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy." xsd:string [Term] id: Orphanet:280270 name: Pelizaeus-Merzbacher-like disease xref: ICD10:E75.2 xref: OMIM:260600 xref: OMIM:300523 xref: OMIM:608804 xref: OMIM:612233 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:68356 ! Leukodystrophy property_value: alternative:term "PMLD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term)." xsd:string [Term] id: Orphanet:280282 name: Pelizaeus-Merzbacher-like due to GJC2 mutation xref: ICD10:E75.2 xref: OMIM:608804 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:280270 ! Pelizaeus-Merzbacher-like disease property_value: alternative:term "PMLD1" xsd:string [Term] id: Orphanet:280288 name: Pelizaeus-Merzbacher-like due to HSPD1 mutation xref: ICD10:E75.2 xref: OMIM:612233 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:280270 ! Pelizaeus-Merzbacher-like disease property_value: alternative:term "Mitochondrial HSP60 chaperonopathy" xsd:string [Term] id: Orphanet:280293 name: Pelizaeus-Merzbacher-like due to AIMP1 mutation xref: ICD10:E75.2 xref: OMIM:260600 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:280270 ! Pelizaeus-Merzbacher-like disease [Term] id: Orphanet:280302 name: Autoimmune pancreatitis type 1 xref: ICD10:K86.1 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:103919 ! Autoimmune pancreatitis property_value: alternative:term "AIP type 1" xsd:string property_value: alternative:term "Lymphoplasmacytic sclerosing pancreatitis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease." xsd:string [Term] id: Orphanet:280315 name: Autoimmune pancreatitis type 2 xref: ICD10:K86.1 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:103919 ! Autoimmune pancreatitis property_value: alternative:term "AIP type 2" xsd:string property_value: alternative:term "Duct-centric pancreatitis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice." xsd:string [Term] id: Orphanet:280325 name: Distal monosomy 12p xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:316244 ! Partial deletion of the short arm of chromosome 12 property_value: alternative:term "12p13.33 microdeletion syndrome" xsd:string property_value: alternative:term "Del(12)(p13.33)" xsd:string property_value: alternative:term "Distal deletion 12p" xsd:string [Term] id: Orphanet:280333 name: Autosomal recessive limb-girdle muscular dystrophy type 2P xref: ICD10:G71.0 xref: OMIM:613818 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102015 ! Autosomal recessive limb-girdle muscular dystrophy relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:207113 ! Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan relationship: part_of Orphanet:371040 ! Primary qualitative or quantitative defects of alpha-dystroglycan relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature property_value: alternative:term "LGMD2P" xsd:string [Term] id: Orphanet:280347 name: dystroglycan 1 (dystrophin-associated glycoprotein 1) xref: ENSEMBL:ENSG00000173402 xref: GENATLAS:DAG1 xref: HGNC:2666 xref: OMIM:128239 xref: REACTOME:Q14118 xref: UNIPROTKB/SWISSPROT:Q14118 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280333 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive limb-girdle muscular dystrophy type 2P relationship: Orphanet:317343 Orphanet:370997 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Muscle-eye-brain disease with bilateral multicystic leucodystrophy property_value: alternative:term "156DAG" xsd:string property_value: alternative:term "A3a" xsd:string property_value: alternative:term "AGRNR" xsd:string property_value: alternative:term "alpha-dystroglycan" xsd:string property_value: alternative:term "beta-dystroglycan" xsd:string property_value: alternative:term "DAG" xsd:string property_value: alternative:term "dystrophin-associated glycoprotein-1" xsd:string property_value: symbol "DAG1" xsd:string [Term] id: Orphanet:280356 name: Familial partial lipodystrophy associated with PLIN1 mutations xref: ICD10:E88.1 xref: OMIM:613877 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181368 ! Insulin-resistance syndrome relationship: part_of Orphanet:98306 ! Familial partial lipodystrophy [Term] id: Orphanet:280360 name: perilipin 1 xref: ENSEMBL:ENSG00000166819 xref: GENATLAS:PLIN1 xref: HGNC:9076 xref: OMIM:170290 xref: REACTOME:O60240 xref: UNIPROTKB/SWISSPROT:O60240 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280356 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial partial lipodystrophy associated with PLIN1 mutations property_value: alternative:term "perilipin" xsd:string property_value: alternative:term "PLIN" xsd:string property_value: symbol "PLIN1" xsd:string [Term] id: Orphanet:280365 name: Autosomal codominant severe lipodystrophic laminopathy xref: ICD10:E88.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181368 ! Insulin-resistance syndrome relationship: part_of Orphanet:98306 ! Familial partial lipodystrophy [Term] id: Orphanet:280379 name: Erythropoietic uroporphyria associated with myeloid malignancy xref: ICD10:E80.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:738 ! Porphyria [Term] id: Orphanet:280384 name: Recessive intellectual disability - motor dysfunction - multiple joint contractures is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "IDMDC" xsd:string [Term] id: Orphanet:280390 name: ER lipid raft associated 2 xref: ENSEMBL:ENSG00000147475 xref: GENATLAS:ERLIN2 xref: HGNC:1356 xref: OMIM:611605 xref: UNIPROTKB/SWISSPROT:O94905 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:209951 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 18 relationship: Orphanet:317343 Orphanet:247604 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juvenile primary lateral sclerosis relationship: Orphanet:317343 Orphanet:280384 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Recessive intellectual disability - motor dysfunction - multiple joint contractures property_value: alternative:term "C8orf2" xsd:string property_value: alternative:term "chromosome 8 open reading frame 2" xsd:string property_value: alternative:term "Erlin-2" xsd:string property_value: alternative:term "NET32" xsd:string property_value: alternative:term "SPFH domain family, member 2" xsd:string property_value: alternative:term "SPFH2" xsd:string property_value: alternative:term "SPG18" xsd:string property_value: symbol "ERLIN2" xsd:string [Term] id: Orphanet:280397 name: Familial Alzheimer-like prion disease xref: ICD10:A81.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:280400 ! Inherited prion disease [Term] id: Orphanet:2804 name: W syndrome xref: ICD10:Q87.0 xref: OMIM:311450 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:166463 ! Epileptic syndrome relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Pallister-W syndrome" xsd:string [Term] id: Orphanet:280400 name: Inherited prion disease xref: ICD10:A81.8 is_a: Orphanet:56970 ! Transmissible spongiform encephalopathy property_value: alternative:term "Familial prion disease" xsd:string [Term] id: Orphanet:280403 name: Familial omphalocele syndrome with facial dysmorphism is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108979 ! Syndromic diaphragmatic or abdominal wall malformation relationship: part_of Orphanet:183530 ! Rare genetic developmental defect during embryogenesis [Term] id: Orphanet:280406 name: Familial steroid-resistant nephrotic syndrome with sensorineural deafness xref: ICD10:N04 xref: OMIM:614650 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102373 ! Primary glomerular disease relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:280409 name: coenzyme Q6 monooxygenase xref: ENSEMBL:ENSG00000119723 xref: GENATLAS:COQ6 xref: HGNC:20233 xref: OMIM:614647 xref: REACTOME:Q9Y2Z9 xref: UNIPROTKB/SWISSPROT:Q9Y2Z9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280406 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial steroid-resistant nephrotic syndrome with sensorineural deafness property_value: alternative:term "CGI-10" xsd:string property_value: alternative:term "coenzyme Q6 homolog (yeast)" xsd:string property_value: alternative:term "Coenzyme Q6 homolog, monooxygenase (S. cerevisiae)" xsd:string property_value: alternative:term "coenzyme Q6 homolog, monooxygenase (yeast)" xsd:string property_value: symbol "COQ6" xsd:string [Term] id: Orphanet:2805 name: Partial pancreatic agenesis xref: ICD10:Q45.0 xref: OMIM:167755 xref: OMIM:260370 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108971 ! Nonsyndromic visceral malformation property_value: alternative:term "Congenital pancreatic agenesis" xsd:string property_value: alternative:term "Partial agenesis of the pancreas" xsd:string [Term] id: Orphanet:280553 name: Fatal infantile hypertonic myofibrillar myopathy xref: ICD10:G71.2 xref: OMIM:613869 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:593 ! Myofibrillar myopathy property_value: alternative:term "Alpha-B crystallin-related myofibrillar myopathy" xsd:string [Term] id: Orphanet:280558 name: Warsaw breakage syndrome xref: OMIM:613398 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "WABS" xsd:string [Term] id: Orphanet:280563 name: DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 xref: ENSEMBL:ENSG00000013573 xref: GENATLAS:DDX11 xref: HGNC:2736 xref: OMIM:601150 xref: REACTOME:Q96FC9 xref: UNIPROTKB/SWISSPROT:Q96FC9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280558 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Warsaw breakage syndrome property_value: alternative:term "CHL1" xsd:string property_value: alternative:term "CHL1-like helicase homolog (S. cerevisiae)" xsd:string property_value: alternative:term "CHLR1" xsd:string property_value: alternative:term "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11" xsd:string property_value: alternative:term "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)" xsd:string property_value: alternative:term "KRG2" xsd:string property_value: alternative:term "WABS" xsd:string property_value: symbol "DDX11" xsd:string [Term] id: Orphanet:280569 name: Rapidly progressive glomerulonephritis xref: ICD10:N01 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102373 ! Primary glomerular disease property_value: alternative:term "Crescentic glomerulonephritis" xsd:string property_value: alternative:term "RPGN" xsd:string [Term] id: Orphanet:280576 name: Nestor-Guillermo progeria syndrome xref: ICD10:E34.8 xref: OMIM:614008 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139033 ! Progeroid syndrome relationship: part_of Orphanet:363245 ! Genetic progeroid syndrome relationship: part_of Orphanet:79389 ! Premature aging relationship: part_of Orphanet:93449 ! Primary osteolysis property_value: alternative:term "NGPS" xsd:string [Term] id: Orphanet:280581 name: barrier to autointegration factor 1 xref: ENSEMBL:ENSG00000175334 xref: GENATLAS:BANF1 xref: HGNC:17397 xref: OMIM:603811 xref: REACTOME:O75531 xref: UNIPROTKB/SWISSPROT:O75531 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280576 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nestor-Guillermo progeria syndrome property_value: alternative:term "BAF" xsd:string property_value: symbol "BANF1" xsd:string [Term] id: Orphanet:280586 name: Chondrodysplasia with joint dislocations, gPAPP type xref: OMIM:614078 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93441 ! Primary bone dysplasia with multiple joint dislocations property_value: alternative:term "gPAPP deficiency" xsd:string [Term] id: Orphanet:280591 name: inositol monophosphatase domain containing 1 xref: ENSEMBL:ENSG00000104331 xref: GENATLAS:IMPAD1 xref: HGNC:26019 xref: OMIM:614010 xref: UNIPROTKB/SWISSPROT:Q9NX62 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1388 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Catel-Manzke syndrome relationship: Orphanet:317343 Orphanet:280586 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chondrodysplasia with joint dislocations, gPAPP type property_value: alternative:term "FLJ20421" xsd:string property_value: alternative:term "gPAPP" xsd:string property_value: alternative:term "IMPA3" xsd:string property_value: symbol "IMPAD1" xsd:string [Term] id: Orphanet:280598 name: Hereditary sensorimotor neuropathy with hyperelastic skin xref: ICD10:G60.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:140450 ! Hereditary motor and sensory neuropathy [Term] id: Orphanet:2806 name: Subacute sclerosing leukoencephalitis xref: ICD10:A81.1 xref: OMIM:260470 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:166490 ! Infectious disease with epilepsy relationship: part_of Orphanet:98255 ! Chronic encephalitis property_value: alternative:term "Dawson's encephalitis" xsd:string property_value: alternative:term "SSPE" xsd:string property_value: alternative:term "Subacute inclusion body encephalitis" xsd:string property_value: alternative:term "Subacute sclerosing panencephalitis" xsd:string property_value: alternative:term "Van Bogaert disease" xsd:string property_value: alternative:term "Van Bogaert encephalitis" xsd:string [Term] id: Orphanet:280615 name: Hemoglobinopathy Toms River xref: ICD10:D58.2 xref: OMIM:613977 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68364 ! Hemoglobinopathy property_value: alternative:term "Transient neonatal cyanosis and anemia due to Toms River Hemoglobin" xsd:string [Term] id: Orphanet:280620 name: Progressive myoclonic epilepsy type 6 xref: ICD10:G40.3 xref: OMIM:614018 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98261 ! Progressive myoclonic epilepsy [Term] id: Orphanet:280623 name: golgi SNAP receptor complex member 2 xref: ENSEMBL:ENSG00000108433 xref: GENATLAS:GOSR2 xref: HGNC:4431 xref: OMIM:604027 xref: REACTOME:O14653 xref: UNIPROTKB/SWISSPROT:O14653 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280620 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive myoclonic epilepsy type 6 property_value: alternative:term "Bos1" xsd:string property_value: alternative:term "GS27" xsd:string property_value: symbol "GOSR2" xsd:string [Term] id: Orphanet:280628 name: Familial progressive hyper- and hypopigmentation xref: ICD10:L81.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183463 ! Genetic pigmentation anomaly of the skin relationship: part_of Orphanet:79374 ! Pigmentation anomaly of the skin property_value: alternative:term "FPHH" xsd:string [Term] id: Orphanet:280633 name: Multiple congenital anomalies - hypotonia - seizures syndrome xref: ICD10:Q87.8 xref: OMIM:614080 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:309515 ! Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature relationship: part_of Orphanet:371235 ! Congenital disorder of glycosylation with developmental anomaly [Term] id: Orphanet:280636 name: phosphatidylinositol glycan anchor biosynthesis, class N xref: ENSEMBL:ENSG00000197563 xref: GENATLAS:PIGN xref: HGNC:8967 xref: OMIM:606097 xref: REACTOME:O95427 xref: UNIPROTKB/SWISSPROT:O95427 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280633 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple congenital anomalies - hypotonia - seizures syndrome property_value: alternative:term "MDC4" xsd:string property_value: alternative:term "phosphatidylinositol glycan, class N" xsd:string property_value: alternative:term "PIG-N" xsd:string property_value: symbol "PIGN" xsd:string [Term] id: Orphanet:280640 name: Occipital pachygyria and polymicrogyria xref: ICD10:Q04.3 xref: OMIM:614115 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:163209 ! Nonsyndromic cerebral malformation due to abnormal neuronal migration property_value: alternative:term "Occipital malformations of cortical development" xsd:string property_value: alternative:term "Occipital MCD" xsd:string [Term] id: Orphanet:280647 name: laminin, gamma 3 xref: ENSEMBL:ENSG00000050555 xref: GENATLAS:LAMC3 xref: HGNC:6494 xref: OMIM:604349 xref: REACTOME:Q9Y6N6 xref: UNIPROTKB/SWISSPROT:Q9Y6N6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280640 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Occipital pachygyria and polymicrogyria property_value: alternative:term "DKFZp434E202" xsd:string property_value: symbol "LAMC3" xsd:string [Term] id: Orphanet:280651 name: Acrodysostosis with multiple hormone resistance xref: ICD10:Q75.4 xref: OMIM:101800 xref: OMIM:614613 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101956 ! Polyendocrinopathy relationship: part_of Orphanet:155899 ! Mandibulofacial dysostosis relationship: part_of Orphanet:183643 ! Genetic polyendocrinopathy relationship: part_of Orphanet:364574 ! Acrofacial dysostosis [Term] id: Orphanet:280654 name: Autosomal recessive nail dysplasia xref: ICD10:Q84.6 xref: OMIM:614157 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79369 ! Isolated nail anomaly [Term] id: Orphanet:280659 name: frizzled family receptor 6 xref: ENSEMBL:ENSG00000164930 xref: GENATLAS:FZD6 xref: HGNC:4044 xref: IUPHAR:234 xref: OMIM:603409 xref: REACTOME:O60353 xref: UNIPROTKB/SWISSPROT:O60353 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280654 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive nail dysplasia property_value: alternative:term "frizzled (Drosophila) homolog 6" xsd:string property_value: alternative:term "frizzled 6, seven transmembrane spanning receptor" xsd:string property_value: alternative:term "frizzled homolog 6 (Drosophila)" xsd:string property_value: alternative:term "Hfz6" xsd:string property_value: symbol "FZD6" xsd:string [Term] id: Orphanet:280663 name: Hermansky-Pudlak syndrome type 9 xref: ICD10:E70.3 xref: OMIM:614171 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79430 ! Hermansky-Pudlak syndrome property_value: alternative:term "HPS9" xsd:string [Term] id: Orphanet:280669 name: biogenesis of lysosomal organelles complex-1, subunit 6, pallidin xref: ENSEMBL:ENSG00000104164 xref: GENATLAS:PLDN xref: HGNC:8549 xref: OMIM:604310 xref: REACTOME:Q9UL45 xref: UNIPROTKB/SWISSPROT:Q9UL45 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280663 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hermansky-Pudlak syndrome type 9 property_value: alternative:term "HPS9" xsd:string property_value: alternative:term "PA" xsd:string property_value: alternative:term "pallid (mouse) homolog, pallidin" xsd:string property_value: alternative:term "Pallidin homolog (mouse)" xsd:string property_value: alternative:term "PLDN" xsd:string property_value: symbol "BLOC1S6" xsd:string [Term] id: Orphanet:280671 name: Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect xref: ICD10:G71.2 xref: OMIM:602541 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:352312 ! Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement relationship: part_of Orphanet:97242 ! Congenital muscular dystrophy property_value: alternative:term "Congenital megaconial myopathy" xsd:string property_value: alternative:term "Congenital muscular dystrophy with mitochondrial structural abnormalities" xsd:string property_value: alternative:term "Megaconial congénital muscular dystrophy" xsd:string [Term] id: Orphanet:280675 name: choline kinase beta xref: ENSEMBL:ENSG00000100288 xref: GENATLAS:CHKB xref: HGNC:1938 xref: OMIM:612395 xref: REACTOME:Q9Y259 xref: UNIPROTKB/SWISSPROT:Q9Y259 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280671 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect property_value: alternative:term "CHETK" xsd:string property_value: alternative:term "CHKL" xsd:string property_value: alternative:term "choline kinase-like" xsd:string property_value: symbol "CHKB" xsd:string [Term] id: Orphanet:280679 name: Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism xref: OMIM:300845 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:181387 ! Syndrome with hypogonadotropic hypogonadism relationship: part_of Orphanet:183503 ! Genetic central nervous system and retinal vascular disease relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease relationship: part_of Orphanet:98048 ! Rare male infertility property_value: alternative:term "Syndromic Moyamoya disease" xsd:string [Term] id: Orphanet:2807 name: Papilloma of choroid plexus xref: ICD10:D33.0 xref: MEDDRA:10008777 xref: MESH:D020288 xref: OMIM:260500 xref: SNOMED CT:18021007 xref: UMLS:C0205770 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251896 ! Choroid plexus tumor [Term] id: Orphanet:280763 name: Severe intellectual deficit and progressive spastic paraplegia xref: OMIM:612936 xref: OMIM:613744 xref: OMIM:614066 xref: OMIM:614067 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100981 ! Autosomal recessive complex spastic paraplegia relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "AP4 deficiency syndrome" xsd:string [Term] id: Orphanet:280774 name: Generalized essential telangiectasia is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79379 ! Skin vascular disease property_value: alternative:term "GET" xsd:string [Term] id: Orphanet:280779 name: Cutaneous collagenous vasculopathy is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79379 ! Skin vascular disease property_value: alternative:term "CCV" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias." xsd:string [Term] id: Orphanet:280785 name: Bullous diffuse cutaneous mastocytosis xref: ICD10:Q82.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79456 ! Diffuse cutaneous mastocytosis property_value: alternative:term "Bullous DCM" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin." xsd:string [Term] id: Orphanet:280794 name: Pseudoxanthomatous diffuse cutaneous mastocytosis xref: ICD10:Q82.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79456 ! Diffuse cutaneous mastocytosis property_value: alternative:term "Infiltrative small vesicular DCM" xsd:string property_value: alternative:term "Infiltrative small vesicular diffuse cutaneous mastocytosis" xsd:string property_value: alternative:term "Pseudoxanthomatous DCM" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering." xsd:string [Term] id: Orphanet:2808 name: Laryngeal abductor paralysis xref: ICD10:J38.0 xref: OMIM:150260 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:156249 ! Larynx anomaly property_value: alternative:term "Familial vocal cord dysfunction" xsd:string property_value: alternative:term "Gerhardt syndrome" xsd:string [Term] id: Orphanet:280802 name: Intralobar congenital pulmonary sequestration xref: ICD10:Q33.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3161 ! Congenital pulmonary sequestration property_value: alternative:term "Congenital intrapulmonary sequestration" xsd:string property_value: alternative:term "Intralobar congenital bronchopulmonary sequestration" xsd:string [Term] id: Orphanet:280811 name: Extralobar congenital pulmonary sequestration xref: ICD10:Q33.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3161 ! Congenital pulmonary sequestration property_value: alternative:term "Congenital extrapulmonary sequestration" xsd:string property_value: alternative:term "Extralobar congenital bronchopulmonary sequestration" xsd:string [Term] id: Orphanet:280821 name: Communicating congenital bronchopulmonary-foregut malformation xref: ICD10:Q33.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3161 ! Congenital pulmonary sequestration [Term] id: Orphanet:280827 name: Congenital pulmonary airway malformation, type 0 xref: ICD10:Q33.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:2444 ! Congenital pulmonary airway malformation property_value: alternative:term "CPAM type 0" xsd:string [Term] id: Orphanet:280832 name: Congenital pulmonary airway malformation type 1 xref: ICD10:Q33.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:2444 ! Congenital pulmonary airway malformation property_value: alternative:term "CCAM type 1" xsd:string property_value: alternative:term "Congenital cystic adenomatoid malformation of the lung type 1" xsd:string property_value: alternative:term "Congenital cystic disease of the lung type 1" xsd:string property_value: alternative:term "CPAM type 1" xsd:string [Term] id: Orphanet:280840 name: Congenital pulmonary airway malformation type 2 xref: ICD10:Q33.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:2444 ! Congenital pulmonary airway malformation property_value: alternative:term "CCAM type 2" xsd:string property_value: alternative:term "Congenital cystic adenomatoid malformation of the lung type 2" xsd:string property_value: alternative:term "Congenital cystic disease of the lung type 2" xsd:string property_value: alternative:term "CPAM type 2" xsd:string [Term] id: Orphanet:280847 name: Congenital pulmonary airway malformation type 3 xref: ICD10:Q33.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:2444 ! Congenital pulmonary airway malformation property_value: alternative:term "CCAM type 3" xsd:string property_value: alternative:term "Congenital cystic adenomatoid malformation of the lung type 3" xsd:string property_value: alternative:term "Congenital cystic disease of the lung type 3" xsd:string property_value: alternative:term "CPAM type 3" xsd:string [Term] id: Orphanet:280854 name: Congenital pulmonary airway malformation, type 4 xref: ICD10:Q33.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:2444 ! Congenital pulmonary airway malformation property_value: alternative:term "CPAM type 4" xsd:string [Term] id: Orphanet:280886 name: Anterior uveitis xref: ICD10:H20 is_a: Orphanet:98715 ! Uveitis property_value: alternative:term "Iridocyclitis" xsd:string [Term] id: Orphanet:280892 name: Posterior uveitis xref: ICD10:H30 is_a: Orphanet:98715 ! Uveitis property_value: alternative:term "Choroiditis" xsd:string [Term] id: Orphanet:280898 name: Panuveitis xref: ICD10:H44.1 is_a: Orphanet:98715 ! Uveitis property_value: alternative:term "Total uveitis" xsd:string [Term] id: Orphanet:2809 name: Familial recurrent peripheral facial palsy xref: ICD10:G51.0 xref: OMIM:134200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98497 ! Genetic peripheral neuropathy [Term] id: Orphanet:280914 name: Idiopathic anterior uveitis xref: ICD10:H20 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:280886 ! Anterior uveitis [Term] id: Orphanet:280917 name: Idiopathic posterior uveitis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:90061 ! Non-infectious posterior uveitis [Term] id: Orphanet:280921 name: Idiopathic panuveitis xref: ICD10:H44.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:280898 ! Panuveitis [Term] id: Orphanet:280926 name: Systemic diseases with anterior uveitis is_a: Orphanet:280886 ! Anterior uveitis [Term] id: Orphanet:280930 name: Systemic diseases with posterior uveitis is_a: Orphanet:280892 ! Posterior uveitis [Term] id: Orphanet:280933 name: Systemic diseases with panuveitis is_a: Orphanet:280898 ! Panuveitis [Term] id: Orphanet:281 name: Monosomy 5p xref: ICD10:Q93.4 xref: MEDDRA:10011385 xref: MESH:C538482 xref: MESH:D003410 xref: OMIM:123450 xref: SNOMED CT:70173007 xref: UMLS:C0010314 xref: UMLS:C2931860 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:261893 ! Partial deletion of the short arm of chromosome 5 relationship: part_of Orphanet:98574 ! Syndromic epicanthus relationship: part_of Orphanet:98642 ! Chromosomal anomaly with cataract relationship: part_of Orphanet:98683 ! Syndrome with a symptomatic strabismus property_value: alternative:term "Cri du chat syndrome" xsd:string property_value: alternative:term "Deletion 5p" xsd:string [Term] id: Orphanet:2810 name: Idiopathic facial palsy xref: ICD10:G51.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98006 ! Rare neurologic disease property_value: alternative:term "Bell palsy" xsd:string [Term] id: Orphanet:281082 name: Inherited ichthyosis nonsyndromic form is_a: Orphanet:183435 ! Inherited ichthyosis [Term] id: Orphanet:281085 name: Inherited ichthyosis syndromic form is_a: Orphanet:183435 ! Inherited ichthyosis [Term] id: Orphanet:281090 name: Syndromic X-linked ichthyosis xref: ICD10:Q80.1 xref: OMIM:308100 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:281210 ! X-linked ichthyosis syndrome property_value: alternative:term "Syndromic recessive X-linked ichthyosis" xsd:string property_value: alternative:term "Syndromic RXLI" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome." xsd:string [Term] id: Orphanet:281097 name: Autosomal recessive congenital ichthyosis is_a: Orphanet:281082 ! Inherited ichthyosis nonsyndromic form property_value: alternative:term "ARCI" xsd:string [Term] id: Orphanet:281103 name: Keratinopathic ichthyosis is_a: Orphanet:281082 ! Inherited ichthyosis nonsyndromic form property_value: alternative:term "KPI" xsd:string [Term] id: Orphanet:281122 name: Self-healing collodion baby xref: ICD10:Q80.2 xref: OMIM:242100 xref: OMIM:242300 xref: OMIM:606545 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:281097 ! Autosomal recessive congenital ichthyosis property_value: alternative:term "SHCB" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life." xsd:string [Term] id: Orphanet:281127 name: Acral self-healing collodion baby xref: ICD10:Q80.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:281097 ! Autosomal recessive congenital ichthyosis property_value: alternative:term "Acral SHCB" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities." xsd:string [Term] id: Orphanet:281139 name: Annular epidermolytic ichthyosis xref: ICD10:Q80.3 xref: OMIM:607602 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:281103 ! Keratinopathic ichthyosis property_value: alternative:term "AEI" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI; see this term) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities." xsd:string [Term] id: Orphanet:281190 name: Congenital reticular ichthyosiform erythroderma xref: OMIM:609165 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:281082 ! Inherited ichthyosis nonsyndromic form property_value: alternative:term "CRIE" xsd:string property_value: alternative:term "Ichthyosis variegata" xsd:string property_value: alternative:term "Ichthyosis with confetti" xsd:string property_value: alternative:term "IWC" xsd:string [Term] id: Orphanet:2812 name: Parana hard-skin syndrome xref: OMIM:260530 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:79385 ! Unclassified genetic skin disease property_value: alternative:term "Hard-skin syndrome, Parana type" xsd:string [Term] id: Orphanet:281201 name: Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome xref: ICD10:Q82.8 xref: OMIM:601952 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:281082 ! Inherited ichthyosis nonsyndromic form relationship: part_of Orphanet:307773 ! Autosomal dominant diffuse mutilating palmoplantar keratoderma property_value: alternative:term "KLICK syndrome" xsd:string [Term] id: Orphanet:281210 name: X-linked ichthyosis syndrome is_a: Orphanet:281085 ! Inherited ichthyosis syndromic form [Term] id: Orphanet:281217 name: Autosomal ichthyosis syndrome is_a: Orphanet:281085 ! Inherited ichthyosis syndromic form [Term] id: Orphanet:281222 name: Autosomal ichthyosis syndrome with prominent hair abnormalities is_a: Orphanet:281217 ! Autosomal ichthyosis syndrome [Term] id: Orphanet:281234 name: Congenital ichthyosis with trichothiodystrophy xref: ICD10:Q80.8 is_a: Orphanet:281222 ! Autosomal ichthyosis syndrome with prominent hair abnormalities [Term] id: Orphanet:281238 name: Autosomal ichthyosis syndrome with prominent neurologics signs is_a: Orphanet:281217 ! Autosomal ichthyosis syndrome [Term] id: Orphanet:281241 name: Autosomal ichthyosis syndrome with fatal disease course is_a: Orphanet:281217 ! Autosomal ichthyosis syndrome [Term] id: Orphanet:281244 name: Autosomal ichthyosis syndrome with other associated signs is_a: Orphanet:281217 ! Autosomal ichthyosis syndrome [Term] id: Orphanet:281347 name: ubiquilin 2 xref: ENSEMBL:ENSG00000188021 xref: GENATLAS:UBQLN2 xref: HGNC:12509 xref: OMIM:300264 xref: UNIPROTKB/SWISSPROT:Q9UHD9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis property_value: alternative:term "Chap1" xsd:string property_value: alternative:term "CHAP1/DSK2" xsd:string property_value: alternative:term "Dsk2" xsd:string property_value: alternative:term "LIC-2" xsd:string property_value: alternative:term "N4BP4" xsd:string property_value: alternative:term "NEDD4 binding protein 4" xsd:string property_value: alternative:term "PLIC-2" xsd:string property_value: alternative:term "PLIC2" xsd:string property_value: alternative:term "RIHFB2157" xsd:string property_value: symbol "UBQLN2" xsd:string [Term] id: Orphanet:281391 name: proteasome maturation protein xref: ENSEMBL:ENSG00000132963 xref: GENATLAS:POMP xref: HGNC:20330 xref: OMIM:613386 xref: UNIPROTKB/SWISSPROT:Q9Y244 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:281201 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome property_value: alternative:term "C13orf12" xsd:string property_value: alternative:term "chromosome 13 open reading frame 12" xsd:string property_value: alternative:term "HSPC014" xsd:string property_value: alternative:term "proteassemblin" xsd:string property_value: alternative:term "UMP1" xsd:string property_value: symbol "POMP" xsd:string [Term] id: Orphanet:281457 name: interleukin 36 receptor antagonist xref: ENSEMBL:ENSG00000136695 xref: GENATLAS:IL36RN xref: HGNC:15561 xref: OMIM:605507 xref: UNIPROTKB/SWISSPROT:Q9UBH0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:163927 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pustulosis palmaris et plantaris relationship: Orphanet:317343 Orphanet:163931 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acrodermatitis continua suppurativa of Hallopeau relationship: Orphanet:317343 Orphanet:247353 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Generalized pustular psoriasis property_value: alternative:term "family of interleukin 1-delta" xsd:string property_value: alternative:term "FIL1" xsd:string property_value: alternative:term "FIL1(DELTA)" xsd:string property_value: alternative:term "FIL1D" xsd:string property_value: alternative:term "IL-1 related protein 3" xsd:string property_value: alternative:term "IL-1F5" xsd:string property_value: alternative:term "IL1F5" xsd:string property_value: alternative:term "IL1HY1" xsd:string property_value: alternative:term "IL1L1" xsd:string property_value: alternative:term "IL1RP3" xsd:string property_value: alternative:term "IL36RA" xsd:string property_value: alternative:term "interleukin 1 family, member 5 (delta)" xsd:string property_value: alternative:term "interleukin-1 HY1" xsd:string property_value: alternative:term "interleukin-1 receptor antagonist homolog 1" xsd:string property_value: alternative:term "MGC29840" xsd:string property_value: symbol "IL36RN" xsd:string [Term] id: Orphanet:281472 name: v-akt murine thymoma viral oncogene homolog 1 xref: ENSEMBL:ENSG00000142208 xref: GENATLAS:AKT1 xref: HGNC:391 xref: IUPHAR:1479 xref: OMIM:164730 xref: REACTOME:P31749 xref: UNIPROTKB/SWISSPROT:P31749 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:201 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cowden syndrome relationship: Orphanet:317344 Orphanet:744 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Proteus syndrome property_value: alternative:term "AKT" xsd:string property_value: alternative:term "PKB" xsd:string property_value: alternative:term "PRKBA" xsd:string property_value: alternative:term "RAC" xsd:string property_value: symbol "AKT1" xsd:string [Term] id: Orphanet:281482 name: additional sex combs like 1 (Drosophila) xref: ENSEMBL:ENSG00000171456 xref: GENATLAS:ASXL1 xref: HGNC:18318 xref: OMIM:612990 xref: UNIPROTKB/SWISSPROT:Q8IXJ9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:97297 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bohring-Opitz syndrome property_value: alternative:term "KIAA0978" xsd:string property_value: symbol "ASXL1" xsd:string [Term] id: Orphanet:281487 name: heparan sulfate 6-O-sulfotransferase 1 xref: ENSEMBL:ENSG00000136720 xref: GENATLAS:HS6ST1 xref: HGNC:5201 xref: OMIM:604846 xref: REACTOME:O60243 xref: UNIPROTKB/SWISSPROT:O60243 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:432 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Normosmic congenital hypogonadotropic hypogonadism relationship: Orphanet:317343 Orphanet:478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kallmann syndrome property_value: alternative:term "HS6ST" xsd:string property_value: symbol "HS6ST1" xsd:string [Term] id: Orphanet:2815 name: Spastic paraparesis - deafness xref: OMIM:312910 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Wells-Jankovic syndrome" xsd:string [Term] id: Orphanet:2816 name: Spastic paraplegia - epilepsy - intellectual deficit xref: OMIM:182610 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100979 ! Autosomal dominant complex spastic paraplegia relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "SPERM" xsd:string [Term] id: Orphanet:281616 name: nudE neurodevelopment protein 1 xref: ENSEMBL:ENSG00000072864 xref: GENATLAS:NDE1 xref: HGNC:17619 xref: OMIM:609449 xref: REACTOME:Q9NXR1 xref: UNIPROTKB/SWISSPROT:Q9NXR1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1083 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microlissencephaly relationship: Orphanet:317343 Orphanet:2177 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hydranencephaly property_value: alternative:term "FLJ20101" xsd:string property_value: alternative:term "NDE" xsd:string property_value: alternative:term "NUDE" xsd:string property_value: alternative:term "nudE nuclear distribution E homolog 1 (A. nidulans)" xsd:string property_value: alternative:term "NudE nuclear distribution gene E homolog 1 (A. nidulans)" xsd:string property_value: symbol "NDE1" xsd:string [Term] id: Orphanet:281690 name: biliverdin reductase A xref: ENSEMBL:ENSG00000106605 xref: GENATLAS:BLVRA xref: HGNC:1062 xref: OMIM:109750 xref: REACTOME:P53004 xref: UNIPROTKB/SWISSPROT:P53004 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:276405 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperbiliverdinemia property_value: alternative:term "BLVR" xsd:string property_value: symbol "BLVRA" xsd:string [Term] id: Orphanet:281695 name: N(alpha)-acetyltransferase 10, NatA catalytic subunit xref: ENSEMBL:ENSG00000102030 xref: GENATLAS:ARD1A xref: HGNC:18704 xref: OMIM:300013 xref: UNIPROTKB/SWISSPROT:P41227 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:276432 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome property_value: alternative:term "ARD1" xsd:string property_value: alternative:term "ARD1 homolog A, N-acetyltransferase (S. cerevisiae)" xsd:string property_value: alternative:term "ARD1 homolog, N-acetyltransferase (S. cerevisiae)" xsd:string property_value: alternative:term "ARD1A" xsd:string property_value: alternative:term "DXS707" xsd:string property_value: alternative:term "TE2" xsd:string property_value: symbol "NAA10" xsd:string [Term] id: Orphanet:2818 name: Spastic paraplegia - glaucoma - intellectual deficit xref: OMIM:270850 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100981 ! Autosomal recessive complex spastic paraplegia relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:281857 name: hemoglobin, delta xref: ENSEMBL:ENSG00000223609 xref: GENATLAS:HBD xref: HGNC:4829 xref: OMIM:142000 xref: REACTOME:P02042 xref: UNIPROTKB/SWISSPROT:P02042 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:231237 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Delta-beta-thalassemia relationship: Orphanet:317348 Orphanet:330032 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemoglobin Lepore - beta-thalassemia property_value: symbol "HBD" xsd:string [Term] id: Orphanet:281864 name: X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound xref: ENSEMBL:ENSG00000122121 xref: GENATLAS:XPNPEP2 xref: HGNC:12823 xref: IUPHAR:1579 xref: OMIM:300145 xref: UNIPROTKB/SWISSPROT:O43895 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:100057 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Renin-angiotensin-aldosterone system-blocker-induced angioedema property_value: symbol "XPNPEP2" xsd:string [Term] id: Orphanet:281884 name: nodal growth differentiation factor xref: ENSEMBL:ENSG00000156574 xref: GENATLAS:NODAL xref: HGNC:7865 xref: OMIM:601265 xref: REACTOME:Q96S42 xref: UNIPROTKB/SWISSPROT:Q96S42 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101063 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Situs inversus totalis relationship: Orphanet:317343 Orphanet:157769 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Situs ambiguus relationship: Orphanet:317343 Orphanet:220386 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Semilobar holoprosencephaly relationship: Orphanet:317343 Orphanet:280195 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Septopreoptic holoprosencephaly relationship: Orphanet:317343 Orphanet:280200 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microform holoprosencephaly relationship: Orphanet:317343 Orphanet:93924 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93925 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93926 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Midline interhemispheric variant of holoprosencephaly property_value: alternative:term "Nodal homolog (mouse)" xsd:string property_value: alternative:term "nodal, mouse, homolog" xsd:string property_value: symbol "NODAL" xsd:string [Term] id: Orphanet:2819 name: Spastic paraplegia - facial-cutaneous lesions is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:100979 ! Autosomal dominant complex spastic paraplegia property_value: alternative:term "Bahemuka-Brown syndrome" xsd:string [Term] id: Orphanet:281953 name: delta-like 1 (Drosophila) xref: ENSEMBL:ENSG00000198719 xref: GENATLAS:DLL1 xref: HGNC:2908 xref: OMIM:606582 xref: REACTOME:O00548 xref: UNIPROTKB/SWISSPROT:O00548 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220386 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Semilobar holoprosencephaly relationship: Orphanet:317343 Orphanet:280195 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Septopreoptic holoprosencephaly relationship: Orphanet:317343 Orphanet:280200 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microform holoprosencephaly relationship: Orphanet:317343 Orphanet:93924 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93925 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93926 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Midline interhemispheric variant of holoprosencephaly property_value: alternative:term "delta (Drosophila)-like 1" xsd:string property_value: symbol "DLL1" xsd:string [Term] id: Orphanet:282 name: Frontotemporal dementia xref: ICD10:G31.0 xref: MEDDRA:10068968 xref: MESH:D057180 xref: OMIM:172700 xref: OMIM:600274 xref: OMIM:600795 xref: OMIM:607485 xref: SNOMED CT:230270009 xref: UMLS:C0338451 is_a: Orphanet:276061 ! Genetic frontotemporal degeneration with dementia is_a: Orphanet:98535 ! Frontotemporal degeneration with dementia relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "FTD" xsd:string [Term] id: Orphanet:2820 name: Spastic paraplegia - nephritis - deafness xref: OMIM:182690 is_a: Orphanet:377792 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100979 ! Autosomal dominant complex spastic paraplegia relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Fitzsimmons-Walson-Mellor syndrome" xsd:string [Term] id: Orphanet:2821 name: Spastic paraplegia - neuropathy - poikiloderma xref: MESH:C536870 xref: OMIM:182815 xref: UMLS:C1866851 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100979 ! Autosomal dominant complex spastic paraplegia property_value: alternative:term "Antinolo-Nieto-Borrego syndrome" xsd:string [Term] id: Orphanet:282124 name: Partial deletion of chromosome 12 xref: ICD10:Q93.5 is_a: Orphanet:98142 ! Partial autosomal monosomy property_value: alternative:term "Partial monosomy of chromosome 12" xsd:string [Term] id: Orphanet:282166 name: Inherited Creutzfeldt-Jakob disease xref: ICD10:A81.0 xref: OMIM:123400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:280400 ! Inherited prion disease relationship: part_of Orphanet:306695 ! Miscellaneous movement disorder due to neurodegenerative disease relationship: part_of Orphanet:307058 ! Miscellaneous movement disorder due to genetic neurodegenerative disease property_value: alternative:term "Inherited CJD" xsd:string [Term] id: Orphanet:282196 name: Autoimmune polyendocrinopathy xref: ICD10:E31.0 is_a: Orphanet:101956 ! Polyendocrinopathy property_value: alternative:term "APS" xsd:string property_value: alternative:term "Autoimmune polyglandular syndrome" xsd:string [Term] id: Orphanet:2822 name: Autosomal recessive spastic paraplegia type 11 xref: ICD10:G11.4 xref: MESH:C537483 xref: MESH:C538335 xref: OMIM:604360 xref: UMLS:C1858479 xref: UMLS:C2931821 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:320346 ! Pure or complex autosomal recessive spastic paraplegia property_value: alternative:term "Nakamura-Osame syndrome" xsd:string property_value: alternative:term "Spastic paraplegia - intellectual deficit - thin corpus callosum" xsd:string property_value: alternative:term "SPG11" xsd:string [Term] id: Orphanet:2823 name: Paraplegia - brachydactyly - cone-shaped epiphysis xref: ICD10:G82.1 xref: OMIM:270710 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly relationship: part_of Orphanet:98006 ! Rare neurologic disease property_value: alternative:term "Fitzsimmons-Guilbert syndrome" xsd:string [Term] id: Orphanet:2824 name: Paraplegia - intellectual deficit - hyperkeratosis xref: ICD10:G82.1 xref: OMIM:309560 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Fitzsimmons-McLachlan-Gilbert syndrome" xsd:string [Term] id: Orphanet:2825 name: PARC syndrome xref: ICD10:Q87.8 xref: MESH:C537174 xref: OMIM:600331 xref: UMLS:C1838256 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Poikiloderma - alopecia - retrognathism - cleft palate" xsd:string [Term] id: Orphanet:2826 name: Spastic paraplegia - precocious puberty xref: MESH:C536874 xref: OMIM:182820 xref: UMLS:C1866850 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100979 ! Autosomal dominant complex spastic paraplegia [Term] id: Orphanet:282786 name: glutamate receptor, ionotropic, N-methyl D-aspartate 1 xref: ENSEMBL:ENSG00000176884 xref: GENATLAS:GRIN1 xref: HGNC:4584 xref: IUPHAR:455 xref: OMIM:138249 xref: REACTOME:Q05586 xref: UNIPROTKB/SWISSPROT:Q05586 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178469 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic intellectual deficit property_value: alternative:term "GluN1" xsd:string property_value: alternative:term "N-methyl-D-aspartate receptor subunit NR1" xsd:string property_value: alternative:term "NMDAR1" xsd:string property_value: symbol "GRIN1" xsd:string [Term] id: Orphanet:2828 name: Young adult-onset Parkinsonism xref: ICD10:G20 xref: OMIM:168601 xref: OMIM:300557 xref: OMIM:600116 xref: OMIM:602404 xref: OMIM:605543 xref: OMIM:605909 xref: OMIM:606324 xref: OMIM:606852 xref: OMIM:607060 xref: OMIM:607688 xref: OMIM:610297 xref: OMIM:613643 xref: OMIM:614203 xref: OMIM:614251 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:182058 ! Primary orthostatic hypotension relationship: part_of Orphanet:306666 ! Rare parkinsonian syndrome due to neurodegenerative disease relationship: part_of Orphanet:307055 ! Rare parkinsonian syndrome due to genetic neurodegenerative disease property_value: alternative:term "Early-onset Parkinson disease" xsd:string property_value: alternative:term "Familial Parkinson disease" xsd:string property_value: alternative:term "Hereditary Parkinson disease" xsd:string property_value: alternative:term "Young-onset Parkinson disease" xsd:string [Term] id: Orphanet:2829 name: Partington-Anderson syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_193 with label: Cohen syndrome" xsd:string [Term] id: Orphanet:283 name: Demodicidosis xref: ICD10:B88.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163588 ! Rare parasitic disease property_value: alternative:term "Demodicosis" xsd:string [Term] id: Orphanet:2831 name: Rhizomelic dysplasia, Patterson-Lowry type xref: ICD10:Q78.8 xref: MESH:C537609 xref: OMIM:601438 xref: UMLS:C1832359 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93438 ! Mesomelic and rhizo-mesomelic dysplasia [Term] id: Orphanet:2832 name: Short tarsus - absence of lower eyelashes xref: ICD10:Q87.2 xref: OMIM:600269 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Lopes-Gorlin syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes." xsd:string [Term] id: Orphanet:2833 name: Stiff skin syndrome xref: OMIM:184900 xref: OMIM:228020 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:79385 ! Unclassified genetic skin disease [Term] id: Orphanet:2834 name: Wrinkly skin syndrome xref: ICD10:Q82.8 xref: MESH:C536750 xref: OMIM:278250 xref: SNOMED CT:238875009 xref: UMLS:C0406587 is_a: Orphanet:357058 ! Autosomal recessive cutis laxa type 2A relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 property_value: alternative:term "Wrinkled skin syndrome" xsd:string property_value: alternative:term "WSS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)." xsd:string [Term] id: Orphanet:2836 name: PEHO syndrome xref: ICD10:G31.8 xref: MESH:C536317 xref: OMIM:260565 xref: SNOMED CT:442511009 xref: UMLS:C0796122 xref: UMLS:C1850055 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:166463 ! Epileptic syndrome relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:89832 ! Syndromic lymphedema relationship: part_of Orphanet:98677 ! Autosomal recessive syndromic optic atrophy property_value: alternative:term "Progressive encephalopathy - optic atrophy" xsd:string property_value: alternative:term "Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy" xsd:string [Term] id: Orphanet:2837 name: Pellagra-like skin rash - neurological manifestations xref: ICD10:E72.8 xref: OMIM:260650 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:183490 ! Genetic photodermatosis relationship: part_of Orphanet:289829 ! Disorder of tryptophan metabolism relationship: part_of Orphanet:79390 ! Rare photodermatosis [Term] id: Orphanet:28378 name: Tyrosinemia type 2 xref: ICD10:E70.2 xref: OMIM:276600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:284818 ! Disorder of tyrosine metabolism relationship: part_of Orphanet:98357 ! Autosomal recessive disease with focal palmoplantar keratoderma as a major feature relationship: part_of Orphanet:98699 ! Syndromic ichthyosis associated with ocular features relationship: part_of Orphanet:98711 ! Metabolic disease with corneal opacity property_value: alternative:term "Keratosis palmoplantaris - corneal dystrophy" xsd:string property_value: alternative:term "Oculocutaneous tyrosinemia" xsd:string property_value: alternative:term "Richner-Hanhart syndrome" xsd:string property_value: alternative:term "Tyrosinemia due to TAT deficiency" xsd:string property_value: alternative:term "Tyrosinemia due to tyrosine aminotransferase deficiency" xsd:string property_value: alternative:term "Tyrosinemia type II" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit." xsd:string [Term] id: Orphanet:2838 name: Renal caliceal diverticuli - deafness is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation [Term] id: Orphanet:2839 name: Pelvis-shoulder dysplasia xref: ICD10:Q87.5 xref: OMIM:169550 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects property_value: alternative:term "Kosenow syndrome" xsd:string property_value: alternative:term "Scapuloiliac dysostosis" xsd:string [Term] id: Orphanet:283988 name: VANGL planar cell polarity protein 2 xref: ENSEMBL:ENSG00000162738 xref: GENATLAS:VANGL2 xref: HGNC:15511 xref: OMIM:600533 xref: REACTOME:Q9ULK5 xref: UNIPROTKB/SWISSPROT:Q9ULK5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:1048 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated anencephaly/exencephaly relationship: Orphanet:317345 Orphanet:268377 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Total spina bifida aperta relationship: Orphanet:317345 Orphanet:268384 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thoracolumbosacral spina bifida aperta relationship: Orphanet:317345 Orphanet:268388 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lumbosacral spina bifida aperta relationship: Orphanet:317345 Orphanet:268392 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervical spina bifida aperta relationship: Orphanet:317345 Orphanet:268397 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervicothoracic spina bifida aperta relationship: Orphanet:317345 Orphanet:268740 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Upper thoracic spina bifida aperta relationship: Orphanet:317345 Orphanet:268748 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Total spina bifida cystica relationship: Orphanet:317345 Orphanet:268752 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thoracolumbosacral spina bifida cystica relationship: Orphanet:317345 Orphanet:268758 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lumbosacral spina bifida cystica relationship: Orphanet:317345 Orphanet:268762 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervical spina bifida cystica relationship: Orphanet:317345 Orphanet:268766 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervicothoracic spina bifida cystica relationship: Orphanet:317345 Orphanet:268770 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Upper thoracic spina bifida cystica property_value: alternative:term "KIAA1215" xsd:string property_value: alternative:term "Loop-tail-associated protein" xsd:string property_value: alternative:term "LPP1" xsd:string property_value: alternative:term "LTAP" xsd:string property_value: alternative:term "MGC119403" xsd:string property_value: alternative:term "MGC119404" xsd:string property_value: alternative:term "STB1" xsd:string property_value: alternative:term "STBM" xsd:string property_value: alternative:term "STBM1" xsd:string property_value: alternative:term "Strabismus" xsd:string property_value: alternative:term "vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)" xsd:string property_value: alternative:term "Vang, van gogh-like 2" xsd:string property_value: alternative:term "Vang-like 2 (van gogh, Drosophila)" xsd:string property_value: symbol "VANGL2" xsd:string [Term] id: Orphanet:284 name: Alveolar echinococcosis xref: ICD10:B67.5 xref: ICD10:B67.6 xref: ICD10:B67.7 xref: MEDDRA:10053042 xref: MESH:C536591 xref: UMLS:C0948954 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163588 ! Rare parasitic disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition ". AE is characterized by an initial asymptomatic incubation period followed by a chronic course where the clinical manifestations include fever, anemia, epigastric pain and jaundice." xsd:string [Term] id: Orphanet:2840 name: Pelvic dysplasia - arthrogryposis of lower limbs xref: MESH:C535292 xref: MESH:C535548 xref: OMIM:602484 xref: UMLS:C1865294 xref: UMLS:C2930869 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93454 ! Dysostosis with predominant vertebral and costal involvement property_value: alternative:term "Ray-Peterson-Scott syndrome" xsd:string [Term] id: Orphanet:2841 name: Familial benign chronic pemphigus xref: ICD10:Q82.8 xref: OMIM:169600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183426 ! Genetic epidermal disease relationship: part_of Orphanet:79353 ! Epidermal disease property_value: alternative:term "Benign chronic familial pemphigus of Hailey-Hailey" xsd:string property_value: alternative:term "Hailey-Hailey disease" xsd:string [Term] id: Orphanet:284139 name: Larsen-like syndrome, B3GAT3 type xref: ICD10:Q74.8 xref: OMIM:245600 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:139030 ! Malformation syndrome with connective tissue involvement relationship: part_of Orphanet:309450 ! Disorder of O-xylosylglycan synthesis relationship: part_of Orphanet:371183 ! Congenital disorder of glycosylation with cardiac malformation as a major feature relationship: part_of Orphanet:371195 ! Congenital disorder of glycosylation-related bone disorder relationship: part_of Orphanet:93441 ! Primary bone dysplasia with multiple joint dislocations property_value: alternative:term "Multiple joint dislocations - short stature - craniofacial dysmorphism - congenital heart defects" xsd:string [Term] id: Orphanet:284146 name: beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) xref: ENSEMBL:ENSG00000149541 xref: GENATLAS:B3GAT3 xref: HGNC:923 xref: OMIM:606374 xref: REACTOME:O94766 xref: UNIPROTKB/SWISSPROT:O94766 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:284139 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Larsen-like syndrome, B3GAT3 type property_value: alternative:term "GlcAT-I" xsd:string property_value: symbol "B3GAT3" xsd:string [Term] id: Orphanet:284149 name: Craniosynostosis and dental anomalies xref: ICD10:Q87.0 xref: OMIM:614188 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component property_value: alternative:term "Kreiborg-Pakistani syndrome" xsd:string [Term] id: Orphanet:284155 name: interleukin 11 receptor, alpha xref: ENSEMBL:ENSG00000137070 xref: GENATLAS:IL11RA xref: HGNC:5967 xref: IUPHAR:1709 xref: OMIM:600939 xref: UNIPROTKB/SWISSPROT:Q14626 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:284149 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Craniosynostosis and dental anomalies property_value: symbol "IL11RA" xsd:string [Term] id: Orphanet:284160 name: 8q21.11 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:614230 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:262065 ! Partial deletion of the long arm of chromosome 8 property_value: alternative:term "Del(8)(q21.11)" xsd:string property_value: alternative:term "Deletion 8q21.11" xsd:string property_value: alternative:term "Monosomy 8q21.11" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies." xsd:string [Term] id: Orphanet:284169 name: 10p11.21p12.31 microdeletion syndrome xref: ICD10:Q83.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:261938 ! Partial deletion of the short arm of chromosome 10 relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "10p12p11 microdeletion syndrome" xsd:string property_value: alternative:term "Del(10)(p11.21p12.31)" xsd:string property_value: alternative:term "Deletion 10p11.21p12.31" xsd:string property_value: alternative:term "Monosomy 10p11.21p12.31" xsd:string [Term] id: Orphanet:284180 name: Xp22.13p22.2 duplication syndrome xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:263775 ! Partial duplication of the short arm of chromosome X property_value: alternative:term "Dup(X)(p22)" xsd:string property_value: alternative:term "Dup(X)(p22.13p22.2)" xsd:string property_value: alternative:term "Duplication Xp22" xsd:string [Term] id: Orphanet:2842 name: Penoscrotal transposition xref: ICD10:Q55.8 xref: MEDDRA:10067287 xref: MESH:C536650 xref: UMLS:C1868854 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182121 ! Nonsyndromic urogenital tract malformation of male [Term] id: Orphanet:284227 name: TEMPI syndrome is_a: Orphanet:377792 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical syndrome relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182222 ! Rare systemic disease property_value: alternative:term "Telangiectasia - erythrocytosis - monoclonal gammopathy - perinephric-fluid collections - intrapulmonary shunting" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting." xsd:string [Term] id: Orphanet:284232 name: Autosomal dominant Charcot-Marie-Tooth disease type 2O xref: ICD10:G60.0 xref: OMIM:614228 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:64746 ! Autosomal dominant Charcot-Marie-Tooth disease type 2 property_value: alternative:term "CMT2O" xsd:string [Term] id: Orphanet:284237 name: dynein, cytoplasmic 1, heavy chain 1 xref: ENSEMBL:ENSG00000197102 xref: GENATLAS:DYNC1H1 xref: HGNC:2961 xref: OMIM:600112 xref: REACTOME:Q14204 xref: UNIPROTKB/SWISSPROT:Q14204 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178469 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic intellectual deficit relationship: Orphanet:317343 Orphanet:209341 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures relationship: Orphanet:317343 Orphanet:284232 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Charcot-Marie-Tooth disease type 2O property_value: alternative:term "DHC1" xsd:string property_value: alternative:term "DNCH1" xsd:string property_value: alternative:term "Dnchc1" xsd:string property_value: alternative:term "DNCL" xsd:string property_value: alternative:term "DNECL" xsd:string property_value: alternative:term "Dynein, cytoplasmic, heavy polypeptide 1" xsd:string property_value: alternative:term "HL-3" xsd:string property_value: alternative:term "p22" xsd:string property_value: symbol "DYNC1H1" xsd:string [Term] id: Orphanet:284247 name: Familial retinal arterial macroaneurysm xref: OMIM:614224 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:156532 ! Rare syndrome with cardiac malformations relationship: part_of Orphanet:98657 ! Genetic vitreous-retinal disease property_value: alternative:term "FRAM" xsd:string property_value: alternative:term "Retinal arterial macroaneurysm and supravalvular pulmonic stenosis" xsd:string [Term] id: Orphanet:284258 name: insulin-like growth factor binding protein 7 xref: ENSEMBL:ENSG00000163453 xref: GENATLAS:IGFBP7 xref: HGNC:5476 xref: OMIM:602867 xref: REACTOME:Q16270 xref: UNIPROTKB/SWISSPROT:Q16270 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:284247 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial retinal arterial macroaneurysm property_value: alternative:term "FSTL2" xsd:string property_value: alternative:term "IGFBP-7" xsd:string property_value: alternative:term "MAC25" xsd:string property_value: alternative:term "PSF" xsd:string property_value: symbol "IGFBP7" xsd:string [Term] id: Orphanet:284264 name: Immunoglobulin G4-related sclerosing disease is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182228 ! Systemic autoimmune disease property_value: alternative:term "IgG4-related sclerosing disease" xsd:string property_value: alternative:term "IgG4-related systemic disease" xsd:string [Term] id: Orphanet:284271 name: Autosomal recessive cerebellar ataxia - psychomotor retardation xref: ICD10:G11.1 xref: OMIM:614229 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98099 ! Autosomal recessive syndromic cerebellar ataxia property_value: alternative:term "Autosomal recessive spinocerebellar ataxia type 11" xsd:string property_value: alternative:term "SCAR11" xsd:string [Term] id: Orphanet:284278 name: synaptotagmin XIV xref: ENSEMBL:ENSG00000143469 xref: GENATLAS:SYT14 xref: HGNC:23143 xref: OMIM:610949 xref: UNIPROTKB/SWISSPROT:Q8NB59 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:284271 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive cerebellar ataxia - psychomotor retardation property_value: alternative:term "FLJ34198" xsd:string property_value: alternative:term "sytXIV" xsd:string property_value: symbol "SYT14" xsd:string [Term] id: Orphanet:284282 name: Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit xref: ICD10:G11.1 xref: OMIM:614322 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98099 ! Autosomal recessive syndromic cerebellar ataxia property_value: alternative:term "Autosomal recessive spinocerebellar ataxia-12" xsd:string property_value: alternative:term "SCAR12" xsd:string [Term] id: Orphanet:284289 name: Adult-onset autosomal recessive cerebellar ataxia xref: ICD10:G11.2 xref: OMIM:613728 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:1172 ! Autosomal recessive cerebellar ataxia property_value: alternative:term "Autosomal recessive spinocerebellar ataxia type 10" xsd:string property_value: alternative:term "SCAR10" xsd:string [Term] id: Orphanet:284296 name: anoctamin 10 xref: ENSEMBL:ENSG00000160746 xref: GENATLAS:ANO10 xref: HGNC:25519 xref: OMIM:613726 xref: REACTOME:Q9NW15 xref: UNIPROTKB/SWISSPROT:Q9NW15 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:284289 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adult-onset autosomal recessive cerebellar ataxia property_value: alternative:term "FLJ10375" xsd:string property_value: alternative:term "MGC47890" xsd:string property_value: alternative:term "SCAR10" xsd:string property_value: alternative:term "TMEM16K" xsd:string property_value: alternative:term "Transmembrane protein 16K" xsd:string property_value: symbol "ANO10" xsd:string [Term] id: Orphanet:2843 name: Pentosuria xref: ICD10:E74.8 xref: MEDDRA:10064170 xref: MESH:C536652 xref: OMIM:260800 xref: SNOMED CT:190764000 xref: SNOMED CT:55824003 xref: UMLS:C0268162 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79186 ! Disorder of pentose phosphate metabolism property_value: alternative:term "Essential pentosuria" xsd:string property_value: alternative:term "Xylitol dehydrogenase deficiency" xsd:string [Term] id: Orphanet:284324 name: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia xref: ICD10:G11.1 xref: OMIM:609270 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:1172 ! Autosomal recessive cerebellar ataxia property_value: alternative:term "Autosomal recessive spinocerebellar ataxia type 7" xsd:string property_value: alternative:term "SCAR7" xsd:string [Term] id: Orphanet:284332 name: Infantile-onset autosomal recessive nonprogressive cerebellar ataxia xref: ICD10:G11.0 xref: OMIM:608029 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:1172 ! Autosomal recessive cerebellar ataxia property_value: alternative:term "Autosomal recessive spinocerebellar ataxia type 6" xsd:string property_value: alternative:term "SCAR6" xsd:string [Term] id: Orphanet:284339 name: Pontocerebellar hypoplasia type 7 xref: ICD10:Q04.3 xref: OMIM:614969 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98523 ! Nonsyndromic pontocerebellar hypoplasia property_value: alternative:term "PCH7" xsd:string property_value: alternative:term "Pontocerebellar hypoplasia - 46,XY disorder of sex development" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." xsd:string [Term] id: Orphanet:284343 name: Pleuropulmonary blastoma family tumor susceptibility syndrome xref: OMIM:601200 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: part_of Orphanet:64742 ! Pleuropulmonary blastoma property_value: alternative:term "DICER1 syndrome" xsd:string property_value: alternative:term "Pleuro-pulmonary blastoma family tumor susceptibility syndrome" xsd:string property_value: alternative:term "PPB family tumor susceptibility syndrome" xsd:string property_value: alternative:term "PPBFTDS" xsd:string [Term] id: Orphanet:284362 name: Fetal lung interstitial tumor is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:64742 ! Pleuropulmonary blastoma property_value: alternative:term "FLIT" xsd:string property_value: alternative:term "Immature interstitial mesenchymal tumor" xsd:string [Term] id: Orphanet:284385 name: Familial intrahepatic cholestasis xref: ICD10:K83.1 is_a: Orphanet:101940 ! Metabolic liver disease [Term] id: Orphanet:284388 name: Reversible cerebral vasoconstriction syndrome is_a: Orphanet:377792 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98022 ! Rare headache property_value: alternative:term "RCVS" xsd:string [Term] id: Orphanet:284395 name: Well-differentiated fetal adenocarcinoma of the lung xref: ICD10:C34 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101945 ! Rare bronchopulmonary tumor property_value: alternative:term "WDFA" xsd:string [Term] id: Orphanet:284400 name: Small cell carcinoma of the bladder xref: ICD10:C67 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98058 ! Rare urinary tract tumor property_value: alternative:term "Poorly differentiated neuroendocrine carcinoma of the bladder" xsd:string property_value: alternative:term "SCCB" xsd:string property_value: alternative:term "Small cell bladder cancer" xsd:string property_value: alternative:term "Small cell bladder carcinoma" xsd:string property_value: alternative:term "Small cell carcinoma of the urinary bladder" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Small cell carcinoma of the bladder (SCCB) is a very rare, poorly differentiated neuroendocrine epithelial bladder tumor characterized clinically by hematuria and/or dysuria and a highly aggressive course." xsd:string [Term] id: Orphanet:284408 name: Glycerol kinase deficiency, infantile form xref: ICD10:E74.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:182076 ! Syndromic neurometabolic disease with X-linked intellectual deficit relationship: part_of Orphanet:408 ! Isolated glycerol kinase deficiency property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and consciousness disorders. Some patients have complex GKD associated with adrenal hypoplasia congenita and / or Duchenne muscular dystrophy (DMD) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy." xsd:string [Term] id: Orphanet:284411 name: Glycerol kinase deficiency, juvenile form xref: ICD10:E74.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:408 ! Isolated glycerol kinase deficiency property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and consciousness disorders." xsd:string [Term] id: Orphanet:284414 name: Glycerol kinase deficiency, adult form xref: ICD10:E74.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:408 ! Isolated glycerol kinase deficiency property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD (see this term) diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults." xsd:string [Term] id: Orphanet:284417 name: Phosphoserine aminotransferase deficiency xref: ICD10:E72.8 xref: OMIM:610992 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:35705 ! Neurometabolic disorder due to serine deficiency property_value: alternative:term "PSAT deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia." xsd:string [Term] id: Orphanet:284426 name: Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency xref: ICD10:E74.0 xref: OMIM:612933 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206959 ! Muscular glycogenosis relationship: part_of Orphanet:2364 ! Glycogen storage disease due to lactate dehydrogenase deficiency property_value: alternative:term "Glycogen storage disease type 11" xsd:string property_value: alternative:term "Glycogenosis due to lactate dehydrogenase M-subunit deficiency" xsd:string property_value: alternative:term "Glycogenosis type 11" xsd:string property_value: alternative:term "GSD due to lactate dehydrogenase M-subunit deficiency" xsd:string property_value: alternative:term "GSD type 11" xsd:string property_value: alternative:term "Lactate dehydrogenase A deficiency" xsd:string property_value: alternative:term "LDH-M subunit deficiency" xsd:string [Term] id: Orphanet:284435 name: Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency xref: ICD10:E74.0 xref: OMIM:614128 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2364 ! Glycogen storage disease due to lactate dehydrogenase deficiency property_value: alternative:term "Glycogenosis due to lactate dehydrogenase H-subunit deficiency" xsd:string property_value: alternative:term "GSD due to lactate dehydrogenase H-subunit deficiency" xsd:string property_value: alternative:term "Lactate dehydrogenase B deficiency" xsd:string property_value: alternative:term "LDH-H subunit deficiency" xsd:string [Term] id: Orphanet:284448 name: CLIPPERS is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182064 ! Rare neuroinflammatory or neuroimmunological disease property_value: alternative:term "Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids" xsd:string [Term] id: Orphanet:284454 name: Acute zonal occult outer retinopathy is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101949 ! Rare acquired eye disease property_value: alternative:term "AZOOR" xsd:string [Term] id: Orphanet:284460 name: Acute annular outer retinopathy is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101949 ! Rare acquired eye disease property_value: alternative:term "AAOR" xsd:string [Term] id: Orphanet:28455 name: Pancreatic beta cell agenesis with neonatal diabetes mellitus xref: ICD10:E10 xref: MESH:C538111 xref: OMIM:600089 xref: UMLS:C1838655 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:181371 ! Rare insulin-dependent diabetes mellitus relationship: part_of Orphanet:183625 ! Rare genetic diabetes mellitus [Term] id: Orphanet:2846 name: Congenital pericardium anomaly xref: ICD10:Q24.8 xref: SNOMED CT:93018000 xref: UMLS:C0685699 is_a: Orphanet:88991 ! Congenital heart malformation relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:2847 name: Pericardial and diaphragmatic defect is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108979 ! Syndromic diaphragmatic or abdominal wall malformation relationship: part_of Orphanet:183530 ! Rare genetic developmental defect during embryogenesis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect." xsd:string [Term] id: Orphanet:284786 name: Qualitative or quantitative defects of troponin is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases [Term] id: Orphanet:284790 name: Qualitative or quantitative defects of tropomyosin is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases [Term] id: Orphanet:284804 name: Ocular albinism xref: ICD10:E70.3 is_a: Orphanet:352728 ! Disorder of melanin metabolism is_a: Orphanet:98706 ! Oculocutaneous or ocular albinism [Term] id: Orphanet:284811 name: Syndromic oculocutaneous albinism xref: ICD10:E70.3 is_a: Orphanet:183469 ! Genetic hypopigmentation of the skin is_a: Orphanet:79376 ! Hypopigmentation of the skin is_a: Orphanet:98706 ! Oculocutaneous or ocular albinism [Term] id: Orphanet:284814 name: Disorder of phenylalanine metabolism xref: ICD10:E70.0 xref: ICD10:E70.1 is_a: Orphanet:79190 ! Disorder of phenylalanin or tyrosine metabolism [Term] id: Orphanet:284818 name: Disorder of tyrosine metabolism xref: ICD10:E70.2 is_a: Orphanet:79190 ! Disorder of phenylalanin or tyrosine metabolism [Term] id: Orphanet:2849 name: Perlman syndrome xref: ICD10:Q87.3 xref: OMIM:267000 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:183595 ! Genetic renal tumor relationship: part_of Orphanet:93460 ! Overgrowth syndrome property_value: alternative:term "Nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor" xsd:string [Term] id: Orphanet:284963 name: Marfan syndrome type 1 xref: ICD10:Q87.4 xref: OMIM:154700 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:558 ! Marfan syndrome property_value: alternative:term "MFS1" xsd:string [Term] id: Orphanet:284973 name: Marfan syndrome type 2 xref: ICD10:Q87.4 xref: OMIM:610380 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:558 ! Marfan syndrome property_value: alternative:term "Loeys-Dietz syndrome type 2" xsd:string property_value: alternative:term "MFS2" xsd:string [Term] id: Orphanet:284979 name: Neonatal Marfan syndrome xref: ICD10:Q87.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:284993 ! Marfan and Marfan-related disorder relationship: part_of Orphanet:285014 ! Rare disease with thoracic aortic aneurysm and aortic dissection property_value: alternative:term "Neonatal MFS" xsd:string [Term] id: Orphanet:284984 name: Aneurysm - osteoarthritis syndrome xref: OMIM:613795 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:284993 ! Marfan and Marfan-related disorder relationship: part_of Orphanet:285014 ! Rare disease with thoracic aortic aneurysm and aortic dissection property_value: alternative:term "AOS" xsd:string property_value: alternative:term "Loeys-Dietz syndrome with osteoarthritis" xsd:string [Term] id: Orphanet:284993 name: Marfan and Marfan-related disorder is_a: Orphanet:182222 ! Rare systemic disease is_a: Orphanet:271870 ! Rare genetic systemic or rheumatologic disease [Term] id: Orphanet:285 name: Ehlers-Danlos syndrome, hypermobility type xref: ICD10:Q79.6 xref: OMIM:130020 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:98249 ! Ehlers-Danlos syndrome property_value: alternative:term "Benign joint hypermobility syndrome" xsd:string property_value: alternative:term "BJHS" xsd:string property_value: alternative:term "EDS III" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome type 3" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome, hypermobile type" xsd:string property_value: alternative:term "HT-EDS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations." xsd:string [Term] id: Orphanet:2850 name: Alopecia-intellectual deficit syndrome xref: ICD10:Q87.8 xref: OMIM:203650 xref: OMIM:610422 xref: OMIM:613930 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:79364 ! Alopecia property_value: alternative:term "Perniola-Krajewska-Carnevale syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia." xsd:string [Term] id: Orphanet:285014 name: Rare disease with thoracic aortic aneurysm and aortic dissection xref: ICD10:I71.1 xref: ICD10:I71.2 is_a: Orphanet:233655 ! Rare genetic vascular disease is_a: Orphanet:68362 ! Rare vascular disease is_a: Orphanet:97962 ! Rare surgical thoracic disease [Term] id: Orphanet:285068 name: eukaryotic translation initiation factor 4 gamma, 1 xref: ENSEMBL:ENSG00000114867 xref: GENATLAS:EIF4G1 xref: HGNC:3296 xref: OMIM:600495 xref: REACTOME:Q04637 xref: UNIPROTKB/SWISSPROT:Q04637 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2828 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Young adult-onset Parkinsonism property_value: alternative:term "EIF4F" xsd:string property_value: alternative:term "EIF4G" xsd:string property_value: alternative:term "p220" xsd:string property_value: alternative:term "PARK18" xsd:string property_value: symbol "EIF4G1" xsd:string [Term] id: Orphanet:285081 name: vacuolar protein sorting 35 homolog (S. cerevisiae) xref: ENSEMBL:ENSG00000069329 xref: GENATLAS:VPS35 xref: HGNC:13487 xref: OMIM:601501 xref: REACTOME:Q96QK1 xref: UNIPROTKB/SWISSPROT:Q96QK1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2828 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Young adult-onset Parkinsonism property_value: alternative:term "FLJ10752" xsd:string property_value: alternative:term "MEM3" xsd:string property_value: alternative:term "PARK17" xsd:string property_value: alternative:term "vacuolar protein sorting 35 (yeast homolog)" xsd:string property_value: alternative:term "vacuolar protein sorting 35 (yeast)" xsd:string property_value: symbol "VPS35" xsd:string [Term] id: Orphanet:285089 name: peroxidasin homolog (Drosophila) xref: ENSEMBL:ENSG00000130508 xref: GENATLAS:PXDN xref: HGNC:14966 xref: OMIM:605158 xref: UNIPROTKB/SWISSPROT:Q92626 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289499 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital cataract microcornea with corneal opacity property_value: alternative:term "D2S448" xsd:string property_value: alternative:term "D2S448E" xsd:string property_value: alternative:term "KIAA0230" xsd:string property_value: alternative:term "MG50" xsd:string property_value: alternative:term "PRG2" xsd:string property_value: alternative:term "PXN" xsd:string property_value: symbol "PXDN" xsd:string [Term] id: Orphanet:285106 name: polymerase (RNA) III (DNA directed) polypeptide A, 155kDa xref: ENSEMBL:ENSG00000148606 xref: GENATLAS:POLR3A xref: HGNC:30074 xref: OMIM:614258 xref: REACTOME:O14802 xref: UNIPROTKB/SWISSPROT:O14802 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:77295 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Odontoleukodystrophy relationship: Orphanet:317343 Orphanet:88637 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypomyelination - hypogonadotropic hypogonadism - hypodontia property_value: alternative:term "hRPC155" xsd:string property_value: alternative:term "RPC1" xsd:string property_value: alternative:term "RPC155" xsd:string property_value: symbol "POLR3A" xsd:string [Term] id: Orphanet:285118 name: polymerase (RNA) III (DNA directed) polypeptide B xref: ENSEMBL:ENSG00000013503 xref: GENATLAS:POLR3B xref: HGNC:30348 xref: OMIM:614366 xref: REACTOME:Q9NW08 xref: UNIPROTKB/SWISSPROT:Q9NW08 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88637 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypomyelination - hypogonadotropic hypogonadism - hypodontia property_value: alternative:term "FLJ10388" xsd:string property_value: alternative:term "RPC2" xsd:string property_value: symbol "POLR3B" xsd:string [Term] id: Orphanet:285128 name: myelin oligodendrocyte glycoprotein xref: ENSEMBL:ENSG00000204655 xref: GENATLAS:MOG xref: HGNC:7197 xref: OMIM:159465 xref: UNIPROTKB/SWISSPROT:Q16653 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:2073 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Narcolepsy-cataplexy property_value: alternative:term "BTN6" xsd:string property_value: alternative:term "BTNL11" xsd:string property_value: symbol "MOG" xsd:string [Term] id: Orphanet:285156 name: K(lysine) acetyltransferase 6B xref: ENSEMBL:ENSG00000156650 xref: GENATLAS:KAT6B xref: HGNC:17582 xref: OMIM:605880 xref: REACTOME:Q8WYB5 xref: UNIPROTKB/SWISSPROT:Q8WYB5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3047 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Blepharophimosis-intellectual deficit syndrome, SBBYS type relationship: Orphanet:317343 Orphanet:648 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Noonan syndrome relationship: Orphanet:317343 Orphanet:85201 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Genitopatellar syndrome property_value: alternative:term "Morf" xsd:string property_value: alternative:term "MOZ-related factor" xsd:string property_value: alternative:term "MOZ2" xsd:string property_value: alternative:term "MYST histone acetyltransferase (monocytic leukemia) 4" xsd:string property_value: alternative:term "MYST4" xsd:string property_value: alternative:term "qkf" xsd:string property_value: alternative:term "querkopf" xsd:string property_value: alternative:term "ZC2HC6B" xsd:string property_value: symbol "KAT6B" xsd:string [Term] id: Orphanet:285223 name: ST3 beta-galactoside alpha-2,3-sialyltransferase 3 xref: ENSEMBL:ENSG00000126091 xref: GENATLAS:ST3GAL3 xref: HGNC:10866 xref: OMIM:606494 xref: REACTOME:Q11203 xref: UNIPROTKB/SWISSPROT:Q11203 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3451 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! West syndrome relationship: Orphanet:317343 Orphanet:88616 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive nonsyndromic intellectual deficit property_value: alternative:term "sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)" xsd:string property_value: alternative:term "SIAT6" xsd:string property_value: alternative:term "ST3Gal III" xsd:string property_value: symbol "ST3GAL3" xsd:string [Term] id: Orphanet:2853 name: Serpentine fibula - polycystic kidneys is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_955 with label: Acroosteolysis, dominant type" xsd:string [Term] id: Orphanet:285341 name: PSMC3 interacting protein xref: ENSEMBL:ENSG00000131470 xref: GENATLAS:PSMC3IP xref: HGNC:17928 xref: OMIM:608665 xref: REACTOME:Q9P2W1 xref: UNIPROTKB/SWISSPROT:Q9P2W1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:243 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 46,XX gonadal dysgenesis property_value: alternative:term "GT198" xsd:string property_value: alternative:term "HUMGT198A" xsd:string property_value: alternative:term "TBP-1 interacting protein" xsd:string property_value: alternative:term "TBPIP" xsd:string property_value: symbol "PSMC3IP" xsd:string [Term] id: Orphanet:285348 name: miR-17-92 cluster host gene (non-protein coding) xref: ENSEMBL:ENSG00000215417 xref: GENATLAS:MIR17HG xref: HGNC:23564 xref: OMIM:609415 xref: UNIPROTKB/SWISSPROT:Q75NE6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:1305 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Feingold syndrome property_value: alternative:term "C13orf25" xsd:string property_value: alternative:term "chromosome 13 open reading frame 25" xsd:string property_value: alternative:term "FLJ14178" xsd:string property_value: alternative:term "LINC00048" xsd:string property_value: alternative:term "long intergenic non-protein coding RNA 48" xsd:string property_value: alternative:term "microRNA host gene 1 (non-protein coding)" xsd:string property_value: alternative:term "MIHG1" xsd:string property_value: alternative:term "miR-17-92" xsd:string property_value: alternative:term "MIR17 host gene (non-protein coding)" xsd:string property_value: alternative:term "MIRH1" xsd:string property_value: alternative:term "MIRHG1" xsd:string property_value: alternative:term "NCRNA00048" xsd:string property_value: alternative:term "non-protein coding RNA 48" xsd:string property_value: symbol "MIR17HG" xsd:string [Term] id: Orphanet:285362 name: Rho GTPase activating protein 24 xref: ENSEMBL:ENSG00000138639 xref: GENATLAS:ARHGAP24 xref: HGNC:25361 xref: OMIM:610586 xref: REACTOME:Q8N264 xref: UNIPROTKB/SWISSPROT:Q8N264 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93213 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis property_value: alternative:term "DKFZP564B1162" xsd:string property_value: alternative:term "FilGAP" xsd:string property_value: alternative:term "FLJ33877" xsd:string property_value: symbol "ARHGAP24" xsd:string [Term] id: Orphanet:285396 name: fuzzy planar cell polarity protein xref: ENSEMBL:ENSG00000010361 xref: GENATLAS:FUZ xref: HGNC:26219 xref: OMIM:610622 xref: UNIPROTKB/SWISSPROT:Q9BT04 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1136 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Arnold-Chiari malformation type II relationship: Orphanet:317343 Orphanet:268377 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Total spina bifida aperta relationship: Orphanet:317343 Orphanet:268384 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thoracolumbosacral spina bifida aperta relationship: Orphanet:317343 Orphanet:268388 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lumbosacral spina bifida aperta relationship: Orphanet:317343 Orphanet:268392 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervical spina bifida aperta relationship: Orphanet:317343 Orphanet:268397 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervicothoracic spina bifida aperta relationship: Orphanet:317343 Orphanet:268740 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Upper thoracic spina bifida aperta relationship: Orphanet:317343 Orphanet:268748 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Total spina bifida cystica relationship: Orphanet:317343 Orphanet:268752 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thoracolumbosacral spina bifida cystica relationship: Orphanet:317343 Orphanet:268758 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lumbosacral spina bifida cystica relationship: Orphanet:317343 Orphanet:268762 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervical spina bifida cystica relationship: Orphanet:317343 Orphanet:268766 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cervicothoracic spina bifida cystica relationship: Orphanet:317343 Orphanet:268770 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Upper thoracic spina bifida cystica relationship: Orphanet:317343 Orphanet:3027 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Caudal regression sequence property_value: alternative:term "FLJ22688" xsd:string property_value: alternative:term "Fuzzy homolog (Drosophila)" xsd:string property_value: alternative:term "Fy" xsd:string property_value: symbol "FUZ" xsd:string [Term] id: Orphanet:2854 name: Fuhrmann syndrome xref: ICD10:Q74.8 xref: MESH:C538189 xref: OMIM:228930 xref: UMLS:C1856728 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "Fibular hypoplasia or aplasia - femoral bowing - oligodactyly" xsd:string property_value: alternative:term "Fuhrmann-Rieger-de Sousa syndrome" xsd:string [Term] id: Orphanet:285406 name: zinc finger CCCH-type containing 14 xref: ENSEMBL:ENSG00000100722 xref: GENATLAS:ZC3H14 xref: HGNC:20509 xref: OMIM:613279 xref: UNIPROTKB/SWISSPROT:Q6PJT7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88616 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive nonsyndromic intellectual deficit property_value: alternative:term "FLJ11806" xsd:string property_value: alternative:term "NY-REN-37" xsd:string property_value: alternative:term "UKp68" xsd:string property_value: symbol "ZC3H14" xsd:string [Term] id: Orphanet:285468 name: WD repeat domain 19 xref: ENSEMBL:ENSG00000157796 xref: GENATLAS:WDR19 xref: HGNC:18340 xref: OMIM:608151 xref: UNIPROTKB/SWISSPROT:Q8NEZ3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1515 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cranioectodermal dysplasia relationship: Orphanet:317343 Orphanet:474 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Jeune syndrome relationship: Orphanet:317343 Orphanet:93592 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juvenile autosomal recessive medullary cystic kidney disease property_value: alternative:term "DYF-2" xsd:string property_value: alternative:term "FLJ23127" xsd:string property_value: alternative:term "IFT144" xsd:string property_value: alternative:term "intraflagellar transport 144 homolog (Chlamydomonas)" xsd:string property_value: alternative:term "KIAA1638" xsd:string property_value: alternative:term "NPHP13" xsd:string property_value: alternative:term "ORF26" xsd:string property_value: alternative:term "Oseg6" xsd:string property_value: alternative:term "Pwdmp" xsd:string property_value: symbol "WDR19" xsd:string [Term] id: Orphanet:285488 name: ribosomal protein L21 xref: ENSEMBL:ENSG00000122026 xref: GENATLAS:RPL21 xref: HGNC:10313 xref: OMIM:603636 xref: REACTOME:P46778 xref: UNIPROTKB/SWISSPROT:P46778 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:55654 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypotrichosis simplex property_value: alternative:term "60S ribosomal protein L21" xsd:string property_value: alternative:term "DKFZp686C06101" xsd:string property_value: alternative:term "FLJ27458" xsd:string property_value: alternative:term "L21" xsd:string property_value: alternative:term "MGC104274" xsd:string property_value: alternative:term "MGC104275" xsd:string property_value: alternative:term "MGC71252" xsd:string property_value: symbol "RPL21" xsd:string [Term] id: Orphanet:285499 name: UBA domain containing 2 xref: ENSEMBL:ENSG00000134882 xref: GENATLAS:UBAC2 xref: HGNC:20486 xref: UNIPROTKB/SWISSPROT:Q8NBM4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:117 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Behçet disease property_value: alternative:term "FLJ30548" xsd:string property_value: alternative:term "PHGDHL1" xsd:string property_value: alternative:term "phosphoglycerate dehydrogenase like 1" xsd:string property_value: alternative:term "RP11-178C10.1" xsd:string property_value: symbol "UBAC2" xsd:string [Term] id: Orphanet:2855 name: Perrault syndrome xref: ICD10:Q87.8 xref: OMIM:233400 xref: OMIM:614129 xref: OMIM:614926 xref: OMIM:615300 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:325109 ! Syndrome with 46,XX disorder of sex development relationship: part_of Orphanet:325638 ! Syndrome with disorder of sex development of gynecological interest relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:95710 ! Non-acquired premature ovarian failure property_value: alternative:term "XX gonodal dysgenesis - deafness" xsd:string [Term] id: Orphanet:2856 name: Persistent Müllerian duct syndrome xref: ICD10:Q55.8 xref: MESH:C536665 xref: OMIM:261550 xref: UMLS:C1849930 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:325351 ! 46,XY disorder of sex development of endocrine origin relationship: part_of Orphanet:98048 ! Rare male infertility property_value: alternative:term "Persistent Müllerian derivatives" xsd:string property_value: alternative:term "PMDS" xsd:string [Term] id: Orphanet:285657 name: Disorder of folate metabolism and transport is_a: Orphanet:309827 ! Disorder of vitamin and non-protein cofactor absorption and transport  [Term] id: Orphanet:285739 name: testis specific protein, Y-linked 1 xref: ENSEMBL:ENSG00000258992 xref: GENATLAS:TSPY1 xref: HGNC:12381 xref: OMIM:480100 xref: UNIPROTKB/SWISSPROT:Q01534 is_a: Orphanet:C010 ! gene relationship: Orphanet:317346 Orphanet:1646 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Partial chromosome Y deletion relationship: Orphanet:317349 Orphanet:1772 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 45,X/46,XY mixed gonadal dysgenesis property_value: alternative:term "cancer/testis antigen 78" xsd:string property_value: alternative:term "CT78" xsd:string property_value: alternative:term "testis specific protein, Y-linked" xsd:string property_value: alternative:term "TSPY" xsd:string property_value: symbol "TSPY1" xsd:string [Term] id: Orphanet:285758 name: growth arrest-specific 1 xref: ENSEMBL:ENSG00000180447 xref: GENATLAS:GAS1 xref: HGNC:4165 xref: OMIM:139185 xref: UNIPROTKB/SWISSPROT:P54826 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220386 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Semilobar holoprosencephaly relationship: Orphanet:317343 Orphanet:280195 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Septopreoptic holoprosencephaly relationship: Orphanet:317343 Orphanet:280200 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microform holoprosencephaly relationship: Orphanet:317343 Orphanet:93924 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93925 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Alobar holoprosencephaly relationship: Orphanet:317343 Orphanet:93926 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Midline interhemispheric variant of holoprosencephaly property_value: alternative:term "Growth arrest-specific gene-1" xsd:string property_value: symbol "GAS1" xsd:string [Term] id: Orphanet:285763 name: molybdenum cofactor synthesis 3 xref: ENSEMBL:ENSG00000124217 xref: GENATLAS:MOCS3 xref: HGNC:15765 xref: OMIM:609277 xref: REACTOME:O95396 xref: UNIPROTKB/SWISSPROT:O95396 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99732 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sulfite oxidase deficiency due to molybdenum cofactor deficiency property_value: alternative:term "dJ914P20.3" xsd:string property_value: alternative:term "UBA4" xsd:string property_value: alternative:term "UBA4, ubiquitin-activating enzyme E1 homolog (yeast)" xsd:string property_value: alternative:term "ubiquitin-like modifier activating enzyme 4" xsd:string property_value: symbol "MOCS3" xsd:string [Term] id: Orphanet:286 name: Ehlers-Danlos syndrome, vascular type xref: ICD10:Q79.6 xref: OMIM:130050 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:233655 ! Rare genetic vascular disease relationship: part_of Orphanet:68362 ! Rare vascular disease relationship: part_of Orphanet:98249 ! Ehlers-Danlos syndrome property_value: alternative:term "EDS IV" xsd:string property_value: alternative:term "EDS type 4" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome type 4" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome type IV" xsd:string property_value: alternative:term "Sack-Barabas syndrome" xsd:string [Term] id: Orphanet:286217 name: Rh blood group, D antigen xref: ENSEMBL:ENSG00000187010 xref: GENATLAS:RHD xref: HGNC:10009 xref: OMIM:111680 xref: UNIPROTKB/SWISSPROT:Q02161 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:71275 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rh deficiency syndrome property_value: alternative:term "CD240D" xsd:string property_value: alternative:term "DIIIc" xsd:string property_value: alternative:term "RH" xsd:string property_value: alternative:term "Rh30a" xsd:string property_value: alternative:term "Rh4" xsd:string property_value: alternative:term "Rhesus blood group, D antigen" xsd:string property_value: alternative:term "RhII" xsd:string property_value: alternative:term "RhPI" xsd:string property_value: symbol "RHD" xsd:string [Term] id: Orphanet:2863 name: Short stature - wormian bones - dextrocardia xref: ICD10:Q87.1 xref: OMIM:185120 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "Stratton-Parker syndrome" xsd:string [Term] id: Orphanet:2865 name: Short stature - webbed neck - heart disease xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Al Gazali-Aziz-Salem syndrome" xsd:string [Term] id: Orphanet:286546 name: chromosome 9 open reading frame 72 xref: ENSEMBL:ENSG00000147894 xref: GENATLAS:C9orf72 xref: HGNC:28337 xref: OMIM:614260 xref: UNIPROTKB/SWISSPROT:Q96LT7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:275872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Frontotemporal dementia with motor neuron disease relationship: Orphanet:317343 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis relationship: Orphanet:317345 Orphanet:100069 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Semantic dementia relationship: Orphanet:317345 Orphanet:100070 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Progressive non-fluent aphasia relationship: Orphanet:317345 Orphanet:275864 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Behavioral variant of frontotemporal dementia property_value: alternative:term "MGC23980" xsd:string property_value: symbol "C9ORF72" xsd:string [Term] id: Orphanet:286549 name: calcium channel, voltage-dependent, T type, alpha 1H subunit xref: ENSEMBL:ENSG00000196557 xref: GENATLAS:CACNA1H xref: HGNC:1395 xref: IUPHAR:536 xref: OMIM:607904 xref: REACTOME:O95180 xref: UNIPROTKB/SWISSPROT:O95180 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:64280 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Childhood absence epilepsy property_value: alternative:term "Cav3.2" xsd:string property_value: symbol "CACNA1H" xsd:string [Term] id: Orphanet:286552 name: acylglycerol kinase xref: ENSEMBL:ENSG00000006530 xref: GENATLAS:AGK xref: HGNC:21869 xref: OMIM:610345 xref: UNIPROTKB/SWISSPROT:Q53H12 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1369 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy property_value: alternative:term "FLJ10842" xsd:string property_value: alternative:term "MULK" xsd:string property_value: alternative:term "Multiple substrate lipid kinase" xsd:string property_value: symbol "AGK" xsd:string [Term] id: Orphanet:286557 name: histone cell cycle regulator xref: ENSEMBL:ENSG00000100084 xref: GENATLAS:HIRA xref: HGNC:4916 xref: OMIM:600237 xref: REACTOME:P54198 xref: UNIPROTKB/SWISSPROT:P54198 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:567 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 22q11.2 deletion syndrome property_value: alternative:term "DGCR1" xsd:string property_value: alternative:term "DiGeorge critical region gene 1" xsd:string property_value: alternative:term "HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)" xsd:string property_value: alternative:term "HIR histone cell cycle regulation defective homolog A (S. cerevisiae)" xsd:string property_value: alternative:term "TUP1" xsd:string property_value: alternative:term "TUPLE1" xsd:string property_value: symbol "HIRA" xsd:string [Term] id: Orphanet:286578 name: complement factor H-related 1 xref: ENSEMBL:ENSG00000244414 xref: GENATLAS:CFHR1 xref: HGNC:4888 xref: OMIM:134371 xref: UNIPROTKB/SWISSPROT:Q03591 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:329931 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! C3 glomerulonephritis relationship: Orphanet:317343 Orphanet:93571 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dense deposit disease relationship: Orphanet:317345 Orphanet:93581 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Atypical hemolytic uremic syndrome with anti-factor H antibodies property_value: alternative:term "CFHL" xsd:string property_value: alternative:term "CFHL1" xsd:string property_value: alternative:term "CFHL1P" xsd:string property_value: alternative:term "CFHR1P" xsd:string property_value: alternative:term "Complement factor H-related 1 pseudogene" xsd:string property_value: alternative:term "FHR1" xsd:string property_value: alternative:term "H factor (complement)-like 1" xsd:string property_value: alternative:term "H factor (complement)-like 2" xsd:string property_value: alternative:term "H36-1" xsd:string property_value: alternative:term "H36-2" xsd:string property_value: alternative:term "HFL1" xsd:string property_value: alternative:term "HFL2" xsd:string property_value: symbol "CFHR1" xsd:string [Term] id: Orphanet:286593 name: complement factor H-related 3 xref: ENSEMBL:ENSG00000116785 xref: GENATLAS:CFHR3 xref: HGNC:16980 xref: OMIM:605336 xref: REACTOME:Q02985 xref: UNIPROTKB/SWISSPROT:Q02985 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:93581 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Atypical hemolytic uremic syndrome with anti-factor H antibodies property_value: alternative:term "CFHL3" xsd:string property_value: alternative:term "Complement factor H related 3" xsd:string property_value: alternative:term "DOWN16" xsd:string property_value: alternative:term "FHR-3" xsd:string property_value: alternative:term "FHR3" xsd:string property_value: alternative:term "HLF4" xsd:string property_value: symbol "CFHR3" xsd:string [Term] id: Orphanet:2866 name: Short stature - deafness - neutrophil dysfunction - dysmorphism xref: ICD10:Q87.1 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Thong-Douglas-Ferrante syndrome" xsd:string [Term] id: Orphanet:286604 name: complement factor H-related 5 xref: ENSEMBL:ENSG00000134389 xref: GENATLAS:CFHR5 xref: HGNC:24668 xref: OMIM:608593 xref: UNIPROTKB/SWISSPROT:Q9BXR6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:329931 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! C3 glomerulonephritis relationship: Orphanet:317345 Orphanet:93581 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Atypical hemolytic uremic syndrome with anti-factor H antibodies property_value: alternative:term "CFHL5" xsd:string property_value: alternative:term "Factor H related protein 5" xsd:string property_value: alternative:term "FHR-5" xsd:string property_value: alternative:term "FHR5" xsd:string property_value: symbol "CFHR5" xsd:string [Term] id: Orphanet:286610 name: membrane associated guanylate kinase, WW and PDZ domain containing 2 xref: ENSEMBL:ENSG00000187391 xref: GENATLAS:MAGI2 xref: HGNC:18957 xref: OMIM:606382 xref: REACTOME:Q86UL8 xref: UNIPROTKB/SWISSPROT:Q86UL8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3451 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! West syndrome property_value: alternative:term "ACVRIP1" xsd:string property_value: alternative:term "AIP1" xsd:string property_value: alternative:term "ARIP1" xsd:string property_value: alternative:term "KIAA0705" xsd:string property_value: alternative:term "MAGI-2" xsd:string property_value: symbol "MAGI2" xsd:string [Term] id: Orphanet:286619 name: thioredoxin reductase 2 xref: ENSEMBL:ENSG00000184470 xref: GENATLAS:TXNRD2 xref: HGNC:18155 xref: OMIM:606448 xref: REACTOME:Q9NNW7 xref: UNIPROTKB/SWISSPROT:Q9NNW7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy property_value: alternative:term "Selenoprotein Z" xsd:string property_value: alternative:term "Thioredoxin reductase beta" xsd:string property_value: alternative:term "TR" xsd:string property_value: alternative:term "TR3" xsd:string property_value: alternative:term "TRXR2" xsd:string property_value: symbol "TXNRD2" xsd:string [Term] id: Orphanet:286631 name: transmembrane protein 237 xref: ENSEMBL:ENSG00000155755 xref: GENATLAS:TMEM237 xref: HGNC:14432 xref: OMIM:614423 xref: UNIPROTKB/SWISSPROT:Q96Q45 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220493 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with ocular defect relationship: Orphanet:317343 Orphanet:220497 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with renal defect relationship: Orphanet:317343 Orphanet:2318 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with oculorenal defect relationship: Orphanet:317343 Orphanet:475 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome property_value: alternative:term "ALS2CR4" xsd:string property_value: alternative:term "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4" xsd:string property_value: alternative:term "JBTS14" xsd:string property_value: symbol "TMEM237" xsd:string [Term] id: Orphanet:286634 name: kinesin family member 22 xref: ENSEMBL:ENSG00000079616 xref: GENATLAS:KIF22 xref: HGNC:6391 xref: OMIM:603213 xref: REACTOME:Q14807 xref: UNIPROTKB/SWISSPROT:Q14807 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93360 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spondyloepimetaphyseal dysplasia with multiple dislocations property_value: alternative:term "Kid" xsd:string property_value: alternative:term "kinesin-like 4" xsd:string property_value: alternative:term "KNSL4" xsd:string property_value: alternative:term "OBP-1" xsd:string property_value: alternative:term "OBP-2" xsd:string property_value: symbol "KIF22" xsd:string [Term] id: Orphanet:286639 name: phospholipase A2, group V xref: ENSEMBL:ENSG00000127472 xref: GENATLAS:PLA2G5 xref: HGNC:9038 xref: OMIM:601192 xref: REACTOME:P39877 xref: UNIPROTKB/SWISSPROT:P39877 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363989 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial benign flecked retina property_value: symbol "PLA2G5" xsd:string [Term] id: Orphanet:2867 name: Short stature, Brussels type xref: ICD10:Q87.1 xref: MESH:C537121 xref: OMIM:601350 xref: UMLS:C1832439 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components property_value: alternative:term "Mievis - Verellen-Dumoulin syndrome" xsd:string [Term] id: Orphanet:2868 name: Short stature - valvular heart disease - characteristic facies xref: ICD10:Q87.1 xref: OMIM:126190 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit [Term] id: Orphanet:2869 name: Peutz-Jeghers syndrome xref: ICD10:Q85.8 xref: MEDDRA:10034764 xref: MESH:D010580 xref: OMIM:175200 xref: SNOMED CT:54411001 xref: UMLS:C0031269 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:104010 ! Intestinal polyposis syndrome relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:271835 ! Genetic digestive tract tumor relationship: part_of Orphanet:363314 ! Genetic intestinal polyposis relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis relationship: part_of Orphanet:98587 ! Palpebral lentiginosis relationship: part_of Orphanet:98615 ! Pigmented conjunctival lesion property_value: alternative:term "Hamartomatous intestinal polyposis" xsd:string property_value: alternative:term "PJS" xsd:string property_value: alternative:term "Polyps and spots syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies." xsd:string [Term] id: Orphanet:287 name: Ehlers-Danlos syndrome, classic type xref: ICD10:Q79.6 xref: OMIM:130000 xref: OMIM:130010 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:108979 ! Syndromic diaphragmatic or abdominal wall malformation relationship: part_of Orphanet:167762 ! Rare disease with dentinogenesis imperfecta relationship: part_of Orphanet:180779 ! Syndromic diaphragmatic or thoracic malformation relationship: part_of Orphanet:98249 ! Ehlers-Danlos syndrome property_value: alternative:term "EDS, classic type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) that affects the soft connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility." xsd:string [Term] id: Orphanet:287069 name: bone morphogenetic protein 1 xref: ENSEMBL:ENSG00000168487 xref: GENATLAS:BMP1 xref: HGNC:1067 xref: IUPHAR:2333 xref: OMIM:112264 xref: REACTOME:P13497 xref: UNIPROTKB/SWISSPROT:P13497 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:216812 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 3 property_value: alternative:term "PCOLC" xsd:string property_value: alternative:term "procollagen C-endopeptidase" xsd:string property_value: symbol "BMP1" xsd:string [Term] id: Orphanet:2871 name: Pfeiffer-Palm-Teller syndrome xref: ICD10:Q87.1 xref: MESH:C537889 xref: OMIM:261560 xref: UMLS:C1849929 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit." xsd:string [Term] id: Orphanet:2872 name: Cardiocranial syndrome, Pfeiffer type xref: ICD10:Q87.8 xref: OMIM:218450 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Craniosynostosis - congenital heart disease - intellectual deficit" xsd:string property_value: alternative:term "Pfeiffer-Singer-Zschiesche syndrome" xsd:string property_value: alternative:term "Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis" xsd:string [Term] id: Orphanet:2874 name: Phakomatosis pigmentokeratotica xref: ICD10:Q85.8 xref: MESH:C537893 xref: UMLS:C2931658 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:294057 ! Rare nevus relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis [Term] id: Orphanet:2875 name: Phakomatosis pigmentovascularis xref: ICD10:Q85.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:68419 ! Vascular anomaly or angioma relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature [Term] id: Orphanet:287584 name: KH domain containing 3-like, subcortical maternal complex member xref: ENSEMBL:ENSG00000203908 xref: GENATLAS:ECAT1 xref: HGNC:33699 xref: OMIM:611687 xref: UNIPROTKB/SWISSPROT:Q587J8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:254688 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Complete hydatidiform mole property_value: alternative:term "C6orf221" xsd:string property_value: alternative:term "Chromosome 6 open reading frame 221" xsd:string property_value: alternative:term "ECAT1" xsd:string property_value: alternative:term "ES cell associated transcript 1" xsd:string property_value: symbol "KHDC3L" xsd:string [Term] id: Orphanet:2876 name: PHAVER syndrome xref: OMIM:261575 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Powell-Chandra-Saal syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects." xsd:string [Term] id: Orphanet:2878 name: Phocomelia - ectrodactyly - deafness - sinus arrhythmia xref: ICD10:Q87.2 xref: OMIM:171480 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Stoll-Lévy-Francfort syndrome" xsd:string [Term] id: Orphanet:2879 name: Phocomelia, Schinzel type xref: ICD10:Q87.2 xref: OMIM:276820 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects property_value: alternative:term "Absence of ulna and fibula" xsd:string property_value: alternative:term "Al Awadi-Raas-Rothschild syndrome" xsd:string property_value: alternative:term "Aplasia/hypoplasia of limbs and pelvis" xsd:string property_value: alternative:term "Severe limb deficit" xsd:string [Term] id: Orphanet:288 name: Hereditary elliptocytosis xref: ICD10:D58.1 xref: MEDDRA:10014490 xref: MESH:D004612 xref: SNOMED CT:191169008 xref: UMLS:C0013902 is_a: Orphanet:98364 ! Rare constitutional hemolytic anemia due to a red cell membrane anomaly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 [Term] id: Orphanet:2880 name: Phosphoenolpyruvate carboxykinase deficiency xref: ICD10:E74.4 xref: MESH:C536654 xref: OMIM:261650 xref: OMIM:261680 xref: SNOMED CT:5335002 xref: UMLS:C0268194 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79177 ! Gluconeogenesis disorder property_value: alternative:term "PEPCK deficiency" xsd:string [Term] id: Orphanet:2881 name: Cutaneous photosensitivity - lethal colitis xref: ICD10:L57.8 xref: MESH:C536224 xref: OMIM:219095 xref: UMLS:C1857449 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:104012 ! Rare inflammatory bowel disease [Term] id: Orphanet:2882 name: Sitosterolemia xref: ICD10:E78.0 xref: MEDDRA:10063985 xref: MESH:C537345 xref: OMIM:210250 xref: SNOMED CT:238104009 xref: UMLS:C0342907 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181437 ! Rare syndromic dyslipidemia property_value: alternative:term "Phytosterolemia" xsd:string property_value: alternative:term "Xanthomatosis with sisterolemia" xsd:string [Term] id: Orphanet:2884 name: Piebaldism xref: ICD10:E70.3 xref: MESH:D016116 xref: OMIM:172800 xref: SNOMED CT:6479008 xref: UMLS:C0080024 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183469 ! Genetic hypopigmentation of the skin relationship: part_of Orphanet:79376 ! Hypopigmentation of the skin relationship: part_of Orphanet:98601 ! Eyebrow/eyelashes pigmentation anomaly relationship: part_of Orphanet:98708 ! Pigmentation disorder with eye involvement, excluding albinism property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes." xsd:string [Term] id: Orphanet:2885 name: Piebald trait - neurologic defects xref: OMIM:172850 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:183469 ! Genetic hypopigmentation of the skin relationship: part_of Orphanet:79376 ! Hypopigmentation of the skin property_value: alternative:term "Telfer-Sugar-Jaeger syndrome" xsd:string [Term] id: Orphanet:2886 name: TARP syndrome xref: ICD10:Q87.8 xref: MESH:C536942 xref: OMIM:311900 xref: UMLS:C1839463 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:138044 ! Syndromic Pierre Robin syndrome relationship: part_of Orphanet:156532 ! Rare syndrome with cardiac malformations relationship: part_of Orphanet:363294 ! Genetic syndromic Pierre Robin syndrome property_value: alternative:term "Pierre Robin sequence - congenital heart defect - talipes" xsd:string property_value: alternative:term "Pierre Robin syndrome - congenital heart defect - talipes" xsd:string property_value: alternative:term "Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava" xsd:string [Term] id: Orphanet:2888 name: Pierre Robin syndrome - faciodigital anomaly xref: ICD10:Q87.8 xref: OMIM:311895 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome property_value: alternative:term "Chitayat-Meunier-Hodgkinson syndrome" xsd:string property_value: alternative:term "Pierre Robin sequence - faciodigital anomaly" xsd:string [Term] id: Orphanet:2889 name: Pili torti xref: ICD10:Q84.1 xref: OMIM:261900 xref: SNOMED CT:17170005 xref: UMLS:C0263491 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79366 ! Isolated hair shaft abnormality property_value: alternative:term "Twisted hair" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms)." xsd:string [Term] id: Orphanet:288959 name: retinol binding protein 3, interstitial xref: ENSEMBL:ENSG00000107618 xref: GENATLAS:RBP3 xref: HGNC:9921 xref: OMIM:180290 xref: REACTOME:P10745 xref: UNIPROTKB/SWISSPROT:P10745 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "D10S64" xsd:string property_value: alternative:term "D10S65" xsd:string property_value: alternative:term "D10S66" xsd:string property_value: alternative:term "Retinol-binding protein 3, interstitial" xsd:string property_value: symbol "RBP3" xsd:string [Term] id: Orphanet:288971 name: chromosome 8 open reading frame 37 xref: ENSEMBL:ENSG00000156172 xref: GENATLAS:C8orf37 xref: HGNC:27232 xref: OMIM:614477 xref: UNIPROTKB/SWISSPROT:Q96NL8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone rod dystrophy relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "CORD16" xsd:string property_value: alternative:term "FLJ30600" xsd:string property_value: symbol "C8ORF37" xsd:string [Term] id: Orphanet:289 name: Ellis Van Creveld syndrome xref: ICD10:Q77.6 xref: MEDDRA:10008724 xref: MESH:D004613 xref: OMIM:225500 xref: SNOMED CT:62501005 xref: UMLS:C0013903 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:1505 ! Short rib-polydactyly syndrome relationship: part_of Orphanet:156532 ! Rare syndrome with cardiac malformations relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Chondroectodermal dysplasia" xsd:string property_value: alternative:term "Mesodermic dysplasia" xsd:string [Term] id: Orphanet:2890 name: Pili torti - onychodysplasia xref: MESH:C537399 xref: UMLS:C2931483 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome [Term] id: Orphanet:289008 name: nitric oxide synthase 1 (neuronal) adaptor protein xref: ENSEMBL:ENSG00000198929 xref: GENATLAS:NOS1AP xref: HGNC:16859 xref: OMIM:605551 xref: UNIPROTKB/SWISSPROT:O75052 is_a: Orphanet:C010 ! gene relationship: Orphanet:317346 Orphanet:101016 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Romano-Ward syndrome property_value: alternative:term "C-terminal PDZ domain ligand of neuronal nitric oxide synthase" xsd:string property_value: alternative:term "CAPON" xsd:string property_value: alternative:term "KIAA0464" xsd:string property_value: symbol "NOS1AP" xsd:string [Term] id: Orphanet:289098 name: Disorders of vitamin D metabolism is_a: Orphanet:183634 ! Rare genetic parathyroid disease and phosphocalcic metabolism disorder is_a: Orphanet:68415 ! Rare parathyroid diseases and phosphocalcic metabolism disorder is_a: Orphanet:93447 ! Primary bone dysplasia with defective bone mineralization [Term] id: Orphanet:2891 name: Pili torti - developmental delay - neurological abnormalities xref: MESH:C537398 xref: OMIM:261990 xref: UMLS:C1849811 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:79367 ! Syndromic hair shaft abnormality [Term] id: Orphanet:289103 name: Hypocalcemic rickets is_a: Orphanet:289098 ! Disorders of vitamin D metabolism property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR) (see these terms)." xsd:string [Term] id: Orphanet:289157 name: Hypocalcemic vitamin D-dependent rickets xref: ICD10:E55.0 xref: OMIM:264700 xref: OMIM:600081 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:289103 ! Hypocalcemic rickets property_value: alternative:term "1-alpha-hydroxylase deficiency" xsd:string property_value: alternative:term "PDDRI" xsd:string property_value: alternative:term "Pseudovitamin D-deficient rickets" xsd:string property_value: alternative:term "VDDI" xsd:string property_value: alternative:term "VDDR-I" xsd:string property_value: alternative:term "Vitamin D dependent rickets type I" xsd:string property_value: alternative:term "Vitamin D-dependency type I" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia." xsd:string [Term] id: Orphanet:289176 name: Autosomal recessive hypophosphatemic rickets xref: ICD10:E83.3 xref: OMIM:241520 xref: OMIM:613312 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:437 ! Hypophosphatemic rickets property_value: alternative:term "ARHR" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." xsd:string [Term] id: Orphanet:2892 name: Pilodental dysplasia - refractive errors xref: OMIM:262020 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Euhidrotic ectodermal dysplasia" xsd:string property_value: alternative:term "Kopysc-Barczyk-Krol syndrome" xsd:string [Term] id: Orphanet:289266 name: Early-onset epileptic encephalopathy and intellectual deficit due to GRIN2A mutation xref: ICD10:E72.1 xref: OMIM:613971 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:98259 ! Childhood-onset epilepsy syndrome [Term] id: Orphanet:289276 name: glutamate receptor, ionotropic, N-methyl D-aspartate 2A xref: ENSEMBL:ENSG00000183454 xref: GENATLAS:GRIN2A xref: HGNC:4585 xref: IUPHAR:456 xref: OMIM:138253 xref: REACTOME:Q12879 xref: UNIPROTKB/SWISSPROT:Q12879 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:163721 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rolandic epilepsy - speech dyspraxia relationship: Orphanet:317343 Orphanet:1945 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Benign familial epilepsy of childhood with rolandic spikes relationship: Orphanet:317343 Orphanet:289266 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early-onset epileptic encephalopathy and intellectual deficit due to GRIN2A mutation relationship: Orphanet:317343 Orphanet:725 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epileptic encephalopathy with continuous spike-and-wave during sleep relationship: Orphanet:317343 Orphanet:98818 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Landau-Kleffner syndrome property_value: alternative:term "GluN2A" xsd:string property_value: alternative:term "NMDAR2A" xsd:string property_value: symbol "GRIN2A" xsd:string [Term] id: Orphanet:289290 name: Hypermethioninemia encephalopathy due to adenosine kinase deficiency xref: ICD10:E72.1 xref: OMIM:614300 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79173 ! Disorder of methionine cycle and sulfur amino acid metabolism property_value: alternative:term "ADK hypermethioninemia" xsd:string property_value: alternative:term "Hypermethioninemia encephalopathy due to ADK deficiency" xsd:string [Term] id: Orphanet:289298 name: adenosine kinase xref: ENSEMBL:ENSG00000156110 xref: GENATLAS:ADK xref: HGNC:257 xref: OMIM:102750 xref: REACTOME:P55263 xref: UNIPROTKB/SWISSPROT:P55263 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289290 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypermethioninemia encephalopathy due to adenosine kinase deficiency property_value: alternative:term "Adenosine 5'-phosphotransferase" xsd:string property_value: alternative:term "AK" xsd:string property_value: symbol "ADK" xsd:string [Term] id: Orphanet:289307 name: Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency xref: ICD10:E71.1 xref: OMIM:614105 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79197 ! Disorder of branched-chain amino acid metabolism property_value: alternative:term "Developmental delay due to ALDH6A1 deficiency" xsd:string property_value: alternative:term "Developmental delay due to MMSDH deficiency" xsd:string [Term] id: Orphanet:289319 name: aldehyde dehydrogenase 6 family, member A1 xref: ENSEMBL:ENSG00000119711 xref: GENATLAS:ALDH6A1 xref: HGNC:7179 xref: OMIM:603178 xref: REACTOME:Q02252 xref: UNIPROTKB/SWISSPROT:Q02252 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289307 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency property_value: alternative:term "MMSDH" xsd:string property_value: symbol "ALDH6A1" xsd:string [Term] id: Orphanet:289326 name: Tropical spastic paraparesis xref: ICD10:G04.1 xref: OMIM:159580 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163585 ! Rare viral disease relationship: part_of Orphanet:98010 ! Infectious disease of the nervous system property_value: alternative:term "HAM/TSP" xsd:string property_value: alternative:term "HTLV-1-associated myelopathy/tropical spastic paraparesis" xsd:string property_value: alternative:term "Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis" xsd:string property_value: alternative:term "Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis" xsd:string property_value: alternative:term "TSP" xsd:string [Term] id: Orphanet:289347 name: Infective dermatitis associated with HTLV-1 xref: ICD10:L30.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163585 ! Rare viral disease relationship: part_of Orphanet:90077 ! Other acquired skin disease property_value: alternative:term "IDH" xsd:string property_value: alternative:term "Infective dermatitis associated with human T-lymphotropic virus type 1" xsd:string property_value: alternative:term "Infective dermatitis associated with human T-lymphotropic virus type I" xsd:string [Term] id: Orphanet:289356 name: Non-gestational ovarian choriocarcinoma xref: ICD10:C56 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:35807 ! Ovarian germ cell malignant tumor property_value: alternative:term "NGCO" xsd:string [Term] id: Orphanet:289362 name: Extracranial embryonal carcinoma is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:180226 ! Embryonal carcinoma [Term] id: Orphanet:289365 name: Familial vesicoureteral reflux xref: ICD10:N13.7 xref: OMIM:193000 xref: OMIM:610878 xref: OMIM:613674 xref: OMIM:614317 xref: OMIM:614318 xref: OMIM:614319 xref: OMIM:615390 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:156622 ! Genetic urogenital tract malformation relationship: part_of Orphanet:182124 ! Nonsyndromic urogenital tract malformation of male and female property_value: alternative:term "Familial VUR" xsd:string [Term] id: Orphanet:289371 name: roundabout, axon guidance receptor, homolog 2 (Drosophila) xref: ENSEMBL:ENSG00000185008 xref: GENATLAS:ROBO2 xref: HGNC:10250 xref: OMIM:602431 xref: REACTOME:Q9HCK4 xref: UNIPROTKB/SWISSPROT:Q9HCK4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289365 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial vesicoureteral reflux property_value: alternative:term "KIAA1568" xsd:string property_value: alternative:term "Roundabout (axon guidance receptor, Drosophila) homolog 2" xsd:string property_value: symbol "ROBO2" xsd:string [Term] id: Orphanet:289375 name: SRY (sex determining region Y)-box 17 xref: ENSEMBL:ENSG00000164736 xref: GENATLAS:SOX17 xref: HGNC:18122 xref: OMIM:610928 xref: UNIPROTKB/SWISSPROT:Q9H6I2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289365 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial vesicoureteral reflux property_value: symbol "SOX17" xsd:string [Term] id: Orphanet:289377 name: Early-onset myopathy with fatal cardiomyopathy xref: ICD10:G71.8 xref: OMIM:611705 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206656 ! Non-dystrophic myopathy relationship: part_of Orphanet:209053 ! Qualitative or quantitative defects of titin relationship: part_of Orphanet:217610 ! Neuromuscular disease with dilated cardiomyopathy [Term] id: Orphanet:289380 name: Myosclerosis xref: ICD10:G71.8 xref: OMIM:255600 is_a: Orphanet:206659 ! Non-dystrophic myopathy with collagen 6 anomaly relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Congenital myosclerosis, Löwenthal type" xsd:string [Term] id: Orphanet:2894 name: Pilotto syndrome xref: MESH:C537400 xref: UMLS:C2931484 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome [Term] id: Orphanet:289465 name: Isolated adermatoglyphia xref: ICD10:Q82.8 xref: OMIM:136000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:183530 ! Rare genetic developmental defect during embryogenesis property_value: alternative:term "Absence of fingerprints" xsd:string property_value: alternative:term "Immigration delay disease" xsd:string [Term] id: Orphanet:289472 name: SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 xref: ENSEMBL:ENSG00000163104 xref: GENATLAS:SMARCAD1 xref: HGNC:18398 xref: OMIM:612761 xref: UNIPROTKB/SWISSPROT:Q9H4L7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289465 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated adermatoglyphia property_value: alternative:term "DKFZP762K2015" xsd:string property_value: alternative:term "DKFZp762K2015" xsd:string property_value: alternative:term "ETL1" xsd:string property_value: alternative:term "KIAA1122" xsd:string property_value: symbol "SMARCAD1" xsd:string [Term] id: Orphanet:289478 name: Pyoderma gangrenosum - acne - suppurative hidradenitis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:290842 ! Autoinflammatory syndrome with skin involvement relationship: part_of Orphanet:324927 ! Pyogenic autoinflammatory syndrome property_value: alternative:term "PASH syndrome" xsd:string [Term] id: Orphanet:289483 name: Intellectual deficit - alacrima - achalasia xref: OMIM:300858 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:98604 ! Congenital alacrima [Term] id: Orphanet:289488 name: leprecan-like 1 xref: ENSEMBL:ENSG00000090530 xref: GENATLAS:LEPREL1 xref: HGNC:19317 xref: OMIM:610341 xref: REACTOME:Q8IVL5 xref: UNIPROTKB/SWISSPROT:Q8IVL5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98619 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rare isolated myopia property_value: alternative:term "FLJ10718" xsd:string property_value: alternative:term "MLAT4" xsd:string property_value: alternative:term "P3H2" xsd:string property_value: alternative:term "Prolyl 3-hydroxylase 2" xsd:string property_value: symbol "LEPREL1" xsd:string [Term] id: Orphanet:289494 name: Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism is_a: Orphanet:68356 ! Leukodystrophy [Term] id: Orphanet:289499 name: Congenital cataract microcornea with corneal opacity is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98641 ! Syndromic cataract property_value: alternative:term "CCMCO" xsd:string [Term] id: Orphanet:2895 name: Pinsky-Di George-Harley syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_2510 with label: Micro syndrome" xsd:string [Term] id: Orphanet:289504 name: Combined malonic and methylmalonic acidemia xref: ICD10:E71.1 xref: OMIM:614265 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79163 ! Classic organic aciduria property_value: alternative:term "CMAMMA" xsd:string property_value: alternative:term "Combined malonic and methylmalonic aciduria" xsd:string [Term] id: Orphanet:289511 name: acyl-CoA synthetase family member 3 xref: ENSEMBL:ENSG00000176715 xref: GENATLAS:ACSF3 xref: HGNC:27288 xref: OMIM:614245 xref: UNIPROTKB/SWISSPROT:Q4G176 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289504 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined malonic and methylmalonic acidemia property_value: alternative:term "malonyl-CoA synthetase" xsd:string property_value: symbol "ACSF3" xsd:string [Term] id: Orphanet:289513 name: 12q15q21.1 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:261821 ! Partial deletion of the long arm of chromosome 12 property_value: alternative:term "Del(12)(q15)(q21.1)" xsd:string property_value: alternative:term "Deletion 12q15q21.1" xsd:string property_value: alternative:term "Monosomy 12q15q21.1" xsd:string [Term] id: Orphanet:289522 name: Microtriplication 11q24.1 xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:262923 ! Partial duplication of the long arm of chromosome 11 property_value: alternative:term "Tetrasomy 11q24.1" xsd:string [Term] id: Orphanet:289527 name: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency xref: ICD10:I42.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:217587 ! Mitochondrial disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:309136 ! Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes property_value: alternative:term "Fatal infantile HCM due to mitochondrial complex I deficiency" xsd:string property_value: alternative:term "Fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency" xsd:string property_value: alternative:term "Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency" xsd:string [Term] id: Orphanet:289535 name: NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 xref: ENSEMBL:ENSG00000137806 xref: GENATLAS:NDUFAF1 xref: HGNC:18828 xref: OMIM:606934 xref: UNIPROTKB/SWISSPROT:Q9Y375 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency relationship: Orphanet:317343 Orphanet:289527 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency property_value: alternative:term "CGI-65" xsd:string property_value: alternative:term "CIA30" xsd:string property_value: alternative:term "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1" xsd:string property_value: symbol "NDUFAF1" xsd:string [Term] id: Orphanet:289539 name: BAP1-related tumor predisposition syndrome xref: OMIM:614327 is_a: Orphanet:377793 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! particular clinical situation in a disease or syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome property_value: alternative:term "Tumor susceptibility linked to germline BAP1 mutations" xsd:string [Term] id: Orphanet:289543 name: BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) xref: ENSEMBL:ENSG00000163930 xref: GENATLAS:BAP1 xref: HGNC:950 xref: IUPHAR:2332 xref: OMIM:603089 xref: UNIPROTKB/SWISSPROT:Q92560 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:289539 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! BAP1-related tumor predisposition syndrome property_value: alternative:term "hucep-6" xsd:string property_value: alternative:term "KIAA0272" xsd:string property_value: alternative:term "UCHL2" xsd:string property_value: symbol "BAP1" xsd:string [Term] id: Orphanet:289548 name: Inherited isolated adrenal insufficiency due to CYP11A1 deficiency xref: ICD10:E27.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101960 ! Genetic chronic primary adrenal insufficiency [Term] id: Orphanet:289553 name: Dysmorphism - conductive hearing loss - heart defect xref: ICD10:Q87.8 xref: OMIM:615102 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:289560 name: Neurodegeneration with brain iron accumulation due to C19orf12 mutation xref: ICD10:G23.0 xref: OMIM:614298 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:385 ! Neurodegeneration with brain iron accumulation relationship: part_of Orphanet:98677 ! Autosomal recessive syndromic optic atrophy property_value: alternative:term "Mitochondrial membrane protein associated neurodegeneration" xsd:string property_value: alternative:term "MPAN" xsd:string property_value: alternative:term "NBIA due to C19orf12 mutation" xsd:string property_value: alternative:term "NBIA5" xsd:string property_value: alternative:term "Neurodegeneration with brain iron accumulation type 5" xsd:string [Term] id: Orphanet:289569 name: chromosome 19 open reading frame 12 xref: ENSEMBL:ENSG00000131943 xref: GENATLAS:C19orf12 xref: HGNC:25443 xref: OMIM:614297 xref: UNIPROTKB/SWISSPROT:Q9NSK7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289560 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neurodegeneration with brain iron accumulation due to C19orf12 mutation relationship: Orphanet:317343 Orphanet:320370 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 43 property_value: alternative:term "DKFZP762D096" xsd:string property_value: alternative:term "MGC10922" xsd:string property_value: alternative:term "NBIA4" xsd:string property_value: alternative:term "neurodegeneration with brain iron accumulation 4" xsd:string property_value: alternative:term "spastic paraplegia 43 (autosomal recessive)" xsd:string property_value: alternative:term "SPG43" xsd:string property_value: symbol "C19ORF12" xsd:string [Term] id: Orphanet:289573 name: Fatal multiple mitochondrial dysfunction syndrome xref: OMIM:605711 xref: OMIM:614299 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:309136 ! Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes [Term] id: Orphanet:289576 name: NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) xref: ENSEMBL:ENSG00000169599 xref: GENATLAS:NFU1 xref: HGNC:16287 xref: OMIM:608100 xref: UNIPROTKB/SWISSPROT:Q9UMS0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289573 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fatal multiple mitochondrial dysfunction syndrome relationship: Orphanet:317343 Orphanet:293838 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fatal infantile encephalopathy-pulmonary hypertension syndrome property_value: alternative:term "CGI-33" xsd:string property_value: alternative:term "HIRA interacting protein 5" xsd:string property_value: alternative:term "HIRIP5" xsd:string property_value: alternative:term "NifU" xsd:string property_value: alternative:term "NIFUC" xsd:string property_value: symbol "NFU1" xsd:string [Term] id: Orphanet:289583 name: bolA family member 3 xref: ENSEMBL:ENSG00000163170 xref: GENATLAS:BOLA3 xref: HGNC:24415 xref: OMIM:613183 xref: UNIPROTKB/SWISSPROT:Q53S33 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289573 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fatal multiple mitochondrial dysfunction syndrome property_value: alternative:term "BolA homolog 3 (E. coli)" xsd:string property_value: alternative:term "BolA-like 3 (E. coli)" xsd:string property_value: symbol "BOLA3" xsd:string [Term] id: Orphanet:289586 name: Exfoliative ichthyosis xref: ICD10:Q80.8 xref: OMIM:607936 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:281097 ! Autosomal recessive congenital ichthyosis property_value: alternative:term "Autosomal recessive exfoliative ichthyosis" xsd:string property_value: alternative:term "Ichthyosis exfoliativa" xsd:string [Term] id: Orphanet:289589 name: cystatin A (stefin A) xref: ENSEMBL:ENSG00000121552 xref: GENATLAS:CSTA xref: HGNC:2481 xref: OMIM:184600 xref: UNIPROTKB/SWISSPROT:P01040 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289586 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Exfoliative ichthyosis property_value: alternative:term "STF1" xsd:string property_value: alternative:term "STFA" xsd:string property_value: symbol "CSTA" xsd:string [Term] id: Orphanet:289596 name: Juvenile nasopharyngeal angiofibroma xref: ICD10:D10.6 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:290849 ! Rare head and neck tumor property_value: alternative:term "JNA" xsd:string [Term] id: Orphanet:2896 name: Pitt-Hopkins syndrome xref: MESH:C537403 xref: OMIM:610954 xref: UMLS:C1970431 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing." xsd:string [Term] id: Orphanet:289601 name: Hereditary arterial and articular multiple calcification syndrome xref: OMIM:211800 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:233655 ! Rare genetic vascular disease relationship: part_of Orphanet:68362 ! Rare vascular disease [Term] id: Orphanet:289604 name: 5'-nucleotidase, ecto (CD73) xref: ENSEMBL:ENSG00000135318 xref: GENATLAS:NT5E xref: HGNC:8021 xref: OMIM:129190 xref: REACTOME:P21589 xref: UNIPROTKB/SWISSPROT:P21589 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289601 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary arterial and articular multiple calcification syndrome property_value: alternative:term "5' nucleotidase (CD73)" xsd:string property_value: alternative:term "CALJA" xsd:string property_value: alternative:term "CD73" xsd:string property_value: alternative:term "eN" xsd:string property_value: alternative:term "eNT" xsd:string property_value: alternative:term "NT5" xsd:string property_value: symbol "NT5E" xsd:string [Term] id: Orphanet:289635 name: Rare virus induced tumor is_a: Orphanet:98057 ! Rare tumor [Term] id: Orphanet:289638 name: Epstein-Barr Virus-related tumor is_a: Orphanet:289635 ! Rare virus induced tumor property_value: alternative:term "EBV-related tumor" xsd:string [Term] id: Orphanet:289644 name: Epstein-Barr virus-associated malignant lymphoproliferative disorder is_a: Orphanet:289638 ! Epstein-Barr Virus-related tumor property_value: alternative:term "EBV- associated lymphoproliferative disorder" xsd:string [Term] id: Orphanet:289651 name: Epstein-Barr Virus-associated carcinoma is_a: Orphanet:289638 ! Epstein-Barr Virus-related tumor property_value: alternative:term "EBV-associated carcinoma" xsd:string [Term] id: Orphanet:289656 name: Epstein-Barr Virus-associated mesenchymal tumor is_a: Orphanet:289638 ! Epstein-Barr Virus-related tumor property_value: alternative:term "EBV-associated mesenchymal tumor" xsd:string [Term] id: Orphanet:289661 name: Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly xref: ICD10:C83.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:289644 ! Epstein-Barr virus-associated malignant lymphoproliferative disorder relationship: part_of Orphanet:544 ! Diffuse large B-cell lymphoma property_value: alternative:term "EBV-positive DLBCL of the elderly" xsd:string [Term] id: Orphanet:289666 name: Plasmablastic lymphoma xref: ICD10:C83.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:289644 ! Epstein-Barr virus-associated malignant lymphoproliferative disorder relationship: part_of Orphanet:300846 ! Aggressive B-cell non-Hodgkin lymphoma property_value: alternative:term "PBL" xsd:string [Term] id: Orphanet:289682 name: Lymphoepithelial-like carcinoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:289651 ! Epstein-Barr Virus-associated carcinoma [Term] id: Orphanet:289685 name: Myopericytoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:289656 ! Epstein-Barr Virus-associated mesenchymal tumor [Term] id: Orphanet:2897 name: Pityriasis rubra pilaris xref: ICD10:L44.0 xref: MEDDRA:10035116 xref: MESH:D010916 xref: OMIM:173200 xref: SNOMED CT:3755001 xref: UMLS:C0032027 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183438 ! Genetic erythrokeratoderma relationship: part_of Orphanet:79355 ! Erythrokeratoderma [Term] id: Orphanet:2898 name: Intellectual deficit, X-linked - plagiocephaly xref: ICD10:Q87.0 xref: OMIM:300064 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Hyde Forster-McCarthy-Berry syndrome" xsd:string [Term] id: Orphanet:289825 name: Late-onset primary lymphedema xref: ICD10:I89.0 is_a: Orphanet:77240 ! Primary lymphedema property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Late-onset primary lymphedema is a rare form of primary lymphedema (see this term) characterized by onset of edema after one year of age." xsd:string [Term] id: Orphanet:289829 name: Disorder of tryptophan metabolism xref: ICD10:E70.8 is_a: Orphanet:79062 ! Disorder of amino acid and other organic acid metabolism [Term] id: Orphanet:289832 name: Disorder of lysine and hydroxylysine metabolism xref: ICD10:E72.3 is_a: Orphanet:79062 ! Disorder of amino acid and other organic acid metabolism [Term] id: Orphanet:289841 name: Disorder of glutamine metabolism xref: ICD10:E72.8 is_a: Orphanet:79062 ! Disorder of amino acid and other organic acid metabolism [Term] id: Orphanet:289846 name: Glutathione synthetase deficiency with 5-oxoprolinuria xref: ICD10:D55.1 xref: OMIM:266130 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:32 ! Glutathione synthetase deficiency [Term] id: Orphanet:289849 name: Glutathione synthetase deficiency without 5-oxoprolinuria xref: ICD10:D55.1 xref: OMIM:231900 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:32 ! Glutathione synthetase deficiency [Term] id: Orphanet:289857 name: Neonatal glycine encephalopathy xref: ICD10:E72.5 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:407 ! Glycine encephalopathy property_value: alternative:term "Classic glycine encephalopathy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay." xsd:string [Term] id: Orphanet:289860 name: Infantile glycine encephalopathy xref: ICD10:E72.5 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:407 ! Glycine encephalopathy property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures." xsd:string [Term] id: Orphanet:289863 name: Atypical glycine encephalopathy xref: ICD10:E72.5 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:407 ! Glycine encephalopathy property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE; see this term) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE." xsd:string [Term] id: Orphanet:289866 name: Disorder of proline metabolism xref: ICD10:E72.8 is_a: Orphanet:79185 ! Disorder of ornithine or proline metabolism [Term] id: Orphanet:289869 name: Disorder of ornithine metabolism xref: ICD10:E72.4 is_a: Orphanet:79185 ! Disorder of ornithine or proline metabolism [Term] id: Orphanet:289877 name: Transient hyperammonemia of the newborn xref: ICD10:P74.8 is_a: Orphanet:377793 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! particular clinical situation in a disease or syndrome relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:97955 ! Rare respiratory disease [Term] id: Orphanet:289891 name: Hypermethioninemia due to glycine N-methyltransferase deficiency xref: ICD10:E72.1 xref: OMIM:606664 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:79173 ! Disorder of methionine cycle and sulfur amino acid metabolism property_value: alternative:term "Glycine N-methyltransferase deficiency" xsd:string property_value: alternative:term "Hypermethioninemia due to GNMT deficiency" xsd:string [Term] id: Orphanet:289897 name: glycine N-methyltransferase xref: ENSEMBL:ENSG00000124713 xref: GENATLAS:GNMT xref: HGNC:4415 xref: OMIM:606628 xref: UNIPROTKB/SWISSPROT:Q14749 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289891 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypermethioninemia due to glycine N-methyltransferase deficiency property_value: symbol "GNMT" xsd:string [Term] id: Orphanet:289899 name: Organic aciduria is_a: Orphanet:79062 ! Disorder of amino acid and other organic acid metabolism [Term] id: Orphanet:2899 name: Brachyolmia-amelogenesis imperfecta syndrome xref: ICD10:Q76.3 xref: OMIM:601216 is_a: Orphanet:1293 ! Brachyolmia relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia property_value: alternative:term "Platyspondyly - amelogenesis imperfecta" xsd:string property_value: alternative:term "Verloes-Bourguignon syndrome" xsd:string [Term] id: Orphanet:289902 name: 3-methylglutaconic aciduria xref: ICD10:E71.1 is_a: Orphanet:79163 ! Classic organic aciduria [Term] id: Orphanet:289916 name: Vitamin B12-unresponsive methylmalonic acidemia type mut0 xref: ICD10:E71.1 xref: OMIM:251000 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:27 ! Vitamin B12-unresponsive methylmalonic acidemia property_value: alternative:term "Complete deficiency of methylmalonyl-CoA mutase" xsd:string property_value: alternative:term "Vitamin B12-unresponsive methylmalonic aciduria type mut0" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." xsd:string [Term] id: Orphanet:29 name: Mevalonic aciduria xref: ICD10:E88.8 xref: MESH:D054078 xref: OMIM:610377 xref: SNOMED CT:124327008 xref: UMLS:C0342731 xref: UMLS:C1959626 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309025 ! Mevalonate kinase deficiency relationship: part_of Orphanet:98712 ! Metabolic disease with cataract property_value: alternative:term "Complete mevalonate kinase deficiency" xsd:string property_value: alternative:term "MVA" xsd:string [Term] id: Orphanet:290 name: Congenital rubella syndrome xref: ICD10:P35.0 xref: MEDDRA:10010618 xref: MESH:D012410 xref: SNOMED CT:1857005 xref: UMLS:C0035921 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:166490 ! Infectious disease with epilepsy relationship: part_of Orphanet:232035 ! Infectious embryofetopathy [Term] id: Orphanet:2900 name: Leri pleonosteosis xref: ICD10:Q68.8 xref: MESH:C537118 xref: OMIM:151200 xref: SNOMED CT:41656005 xref: UMLS:C0265311 xref: UMLS:C1835450 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93459 ! Syndrome with synostosis or other joint formation defect [Term] id: Orphanet:2901 name: Neuralgic amyotrophy xref: ICD10:G54.5 xref: MEDDRA:10063020 xref: OMIM:162100 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108924 ! 6-9 / 10 000 relationship: part_of Orphanet:182086 ! Acquired peripheral neuropathy property_value: alternative:term "Acute brachial plexus neuritis" xsd:string property_value: alternative:term "Brachial plexus neuritis" xsd:string property_value: alternative:term "Immune brachial plexus neuropathy" xsd:string property_value: alternative:term "Mononeuritis multiplex with brachial predilection" xsd:string property_value: alternative:term "Neuralgic shoulder amyotrophy" xsd:string property_value: alternative:term "Serum neuritis" xsd:string property_value: alternative:term "Winged scapula" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form." xsd:string [Term] id: Orphanet:290194 name: zinc finger protein 711 xref: ENSEMBL:ENSG00000147180 xref: GENATLAS:ZNF711 xref: HGNC:13128 xref: OMIM:314990 xref: REACTOME:Q9Y462 xref: UNIPROTKB/SWISSPROT:Q9Y462 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit property_value: alternative:term "CMPX1" xsd:string property_value: alternative:term "dJ75N13.1" xsd:string property_value: alternative:term "Zfp711" xsd:string property_value: alternative:term "Zinc finger protein 6" xsd:string property_value: alternative:term "Zinc finger protein 6 (CMPX1)" xsd:string property_value: alternative:term "ZNF4" xsd:string property_value: alternative:term "ZNF5" xsd:string property_value: alternative:term "ZNF6" xsd:string property_value: symbol "ZNF711" xsd:string [Term] id: Orphanet:2902 name: Idiopathic chronic eosinophilic pneumonia xref: ICD10:J82 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182101 ! Idiopathic eosinophilic pneumonia relationship: part_of Orphanet:98052 ! Rare allergic respiratory disease property_value: alternative:term "Chronic eosinophilic pneumonia" xsd:string [Term] id: Orphanet:290272 name: histone deacetylase 8 xref: ENSEMBL:ENSG00000147099 xref: GENATLAS:HDAC8 xref: HGNC:13315 xref: IUPHAR:2619 xref: OMIM:300269 xref: REACTOME:Q9BY41 xref: UNIPROTKB/SWISSPROT:Q9BY41 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:199 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cornelia de Lange syndrome relationship: Orphanet:317343 Orphanet:3459 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Wilson-Turner syndrome property_value: alternative:term "HDACL1" xsd:string property_value: alternative:term "Histone deacetylase-like 1" xsd:string property_value: alternative:term "RPD3" xsd:string property_value: symbol "HDAC8" xsd:string [Term] id: Orphanet:2903 name: Familial spontaneous pneumothorax xref: ICD10:J93.1 xref: OMIM:173600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101944 ! Rare pulmonary disease relationship: part_of Orphanet:156610 ! Rare genetic respiratory disease [Term] id: Orphanet:290420 name: MYC associated factor X xref: ENSEMBL:ENSG00000125952 xref: GENATLAS:MAX xref: HGNC:6913 xref: OMIM:154950 xref: REACTOME:P61244 xref: UNIPROTKB/SWISSPROT:P61244 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:29072 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary pheochromocytoma-paraganglioma property_value: alternative:term "bHLHd4" xsd:string property_value: alternative:term "bHLHd5" xsd:string property_value: alternative:term "bHLHd6" xsd:string property_value: alternative:term "bHLHd7" xsd:string property_value: alternative:term "bHLHd8" xsd:string property_value: alternative:term "MAX protein" xsd:string property_value: symbol "MAX" xsd:string [Term] id: Orphanet:2905 name: POEMS syndrome xref: ICD10:D47.7 xref: MEDDRA:10053869 xref: MESH:D016878 xref: SNOMED CT:425657001 xref: SNOMED CT:79268002 xref: UMLS:C0085404 xref: UMLS:C1510415 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:208974 ! Chronic acquired demyelinating polyneuropathy relationship: part_of Orphanet:209010 ! Peripheral neuropathy associated with monoclonal gammopathy relationship: part_of Orphanet:209016 ! Hematological disease associated with an acquired peripheral neuropathy relationship: part_of Orphanet:98282 ! Plasma cell tumor property_value: alternative:term "Crow-Fukase syndrome" xsd:string property_value: alternative:term "Osteosclerotic myeloma" xsd:string property_value: alternative:term "PEP syndrome" xsd:string property_value: alternative:term "Polyneuropathy - endocrinopathy - plasma cell dyscrasia" xsd:string property_value: alternative:term "Takatsuki syndrome" xsd:string [Term] id: Orphanet:290568 name: lysine (K)-specific demethylase 6A xref: ENSEMBL:ENSG00000147050 xref: GENATLAS:KDM6A xref: HGNC:12637 xref: OMIM:300128 xref: UNIPROTKB/SWISSPROT:O15550 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2322 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kabuki syndrome property_value: alternative:term "Ubiquitously transcribed tetratricopeptide repeat, X chromosome" xsd:string property_value: alternative:term "UTX" xsd:string property_value: symbol "KDM6A" xsd:string [Term] id: Orphanet:2907 name: Hereditary acrokeratotic poikiloderma, Weary type xref: ICD10:Q82.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:306539 ! Hereditary acrokeratotic poikiloderma of Kindler-Weary property_value: alternative:term "Congenital poikiloderma with bullae, Weary type" xsd:string [Term] id: Orphanet:29072 name: Hereditary pheochromocytoma-paraganglioma xref: ICD10:C74.1 xref: ICD10:C75.5 xref: ICD10:D35.0 xref: ICD10:D35.6 xref: OMIM:115310 xref: OMIM:168000 xref: OMIM:171300 xref: OMIM:601650 xref: OMIM:605373 xref: OMIM:614165 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:156629 ! Genetic hypertension relationship: part_of Orphanet:183637 ! Rare genetic adrenal disease relationship: part_of Orphanet:271847 ! Genetic endocrine tumor relationship: part_of Orphanet:717 ! Catecholamine-producing tumor property_value: alternative:term "Familial pheochromocytoma-paraganglioma" xsd:string property_value: alternative:term "SDHx-related paraganglioma-pheochromocytoma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term)." xsd:string [Term] id: Orphanet:29073 name: Multiple myeloma xref: ICD10:C90.0 xref: MEDDRA:10028228 xref: MESH:D009101 xref: OMIM:254500 xref: SNOMED CT:109989006 xref: SNOMED CT:55921005 xref: UMLS:C0026764 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:209016 ! Hematological disease associated with an acquired peripheral neuropathy relationship: part_of Orphanet:98282 ! Plasma cell tumor property_value: alternative:term "Kahler's disease" xsd:string property_value: alternative:term "Medullary plasmacytoma" xsd:string property_value: alternative:term "Myelomatosis" xsd:string property_value: alternative:term "Plasma cell myeloma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig)." xsd:string [Term] id: Orphanet:2908 name: Kindler syndrome xref: ICD10:Q81.8 xref: MESH:C536321 xref: SNOMED CT:238836000 xref: UMLS:C0406557 is_a: Orphanet:306539 ! Hereditary acrokeratotic poikiloderma of Kindler-Weary relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79361 ! Inherited epidermolysis bullosa property_value: alternative:term "KS" xsd:string property_value: alternative:term "Poikiloderma of Kindler" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB, see this term) and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes." xsd:string [Term] id: Orphanet:290836 name: Systemic disease with skin involvement is_a: Orphanet:89826 ! Rare skin disease [Term] id: Orphanet:290839 name: Autoinflammatory syndrome with immune deficiency is_a: Orphanet:101988 ! Primary immunodeficiency due to a defect in innate immunity [Term] id: Orphanet:290842 name: Autoinflammatory syndrome with skin involvement is_a: Orphanet:290836 ! Systemic disease with skin involvement [Term] id: Orphanet:290849 name: Rare head and neck tumor is_a: Orphanet:98057 ! Rare tumor [Term] id: Orphanet:2909 name: Rothmund-Thomson syndrome xref: ICD10:Q82.8 xref: MESH:D011038 xref: OMIM:268400 xref: SNOMED CT:69093006 xref: UMLS:C0032339 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139033 ! Progeroid syndrome relationship: part_of Orphanet:183490 ! Genetic photodermatosis relationship: part_of Orphanet:363245 ! Genetic progeroid syndrome relationship: part_of Orphanet:79390 ! Rare photodermatosis relationship: part_of Orphanet:98649 ! Dentocutaneous disease with cataract relationship: part_of Orphanet:98709 ! Ectodermal malformation syndrome associated with ocular features property_value: alternative:term "Poikiloderma of Rothmund-Thomson" xsd:string property_value: alternative:term "RTS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers." xsd:string [Term] id: Orphanet:291 name: Fetal varicella syndrome xref: ICD10:P35.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:232035 ! Infectious embryofetopathy property_value: alternative:term "Varicella virus antenatal infection" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neural, ocular, limbs and growth defects secondary to Varicella-Zoster Virus (VZV)." xsd:string [Term] id: Orphanet:2911 name: Poland syndrome xref: ICD10:Q79.8 xref: MEDDRA:10036007 xref: MESH:D011045 xref: OMIM:173800 xref: SNOMED CT:38371006 xref: UMLS:C0032357 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:180193 ! Syndromic breast hypoplasia/aplasia relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: alternative:term "Poland anomaly" xsd:string property_value: alternative:term "Poland sequence" xsd:string [Term] id: Orphanet:2912 name: Poliomyelitis xref: ICD10:A80 xref: MEDDRA:10036012 xref: MESH:D011051 xref: SNOMED CT:398102009 xref: UMLS:C0032371 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98010 ! Infectious disease of the nervous system relationship: part_of Orphanet:98506 ! Acquired motor neuron disease [Term] id: Orphanet:2913 name: Polydactyly xref: ICD10:Q69 xref: MEDDRA:10036063 xref: MESH:D017689 xref: OMIM:603596 xref: SNOMED CT:367506006 xref: UMLS:C0152427 is_a: Orphanet:93458 ! Non syndromic polydactyly, syndactyly and/or hyperphalangy [Term] id: Orphanet:291509 name: sigma non-opioid intracellular receptor 1 xref: ENSEMBL:ENSG00000147955 xref: GENATLAS:OPRS1 xref: HGNC:8157 xref: IUPHAR:2552 xref: OMIM:601978 xref: UNIPROTKB/SWISSPROT:Q99720 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:300605 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juvenile amyotrophic lateral sclerosis property_value: alternative:term "Opioid receptor, sigma 1" xsd:string property_value: alternative:term "OPRS1" xsd:string property_value: alternative:term "SR-BP1" xsd:string property_value: symbol "SIGMAR1" xsd:string [Term] id: Orphanet:2916 name: Postaxial polydactyly - dental and vertebral anomalies xref: OMIM:263540 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component [Term] id: Orphanet:2917 name: Polydactyly-myopia syndrome xref: ICD10:Q87.2 xref: OMIM:174310 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "Czeizel-Brooser syndrome" xsd:string [Term] id: Orphanet:291703 name: proline-rich transmembrane protein 2 xref: ENSEMBL:ENSG00000167371 xref: GENATLAS:PRRT2 xref: HGNC:30500 xref: OMIM:614386 xref: UNIPROTKB/SWISSPROT:Q7Z6L0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:306 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Benign familial infantile seizures relationship: Orphanet:317343 Orphanet:31709 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile convulsions and choreoathetosis relationship: Orphanet:317343 Orphanet:569 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial or sporadic hemiplegic migraine relationship: Orphanet:317343 Orphanet:98809 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Paroxysmal kinesigenic dyskinesia property_value: alternative:term "DKFZp547J199" xsd:string property_value: alternative:term "FLJ25513" xsd:string property_value: alternative:term "IFITMD1" xsd:string property_value: alternative:term "Interferon induced transmembrane protein domain containing 1" xsd:string property_value: symbol "PRRT2" xsd:string [Term] id: Orphanet:291742 name: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa xref: ENSEMBL:ENSG00000139180 xref: GENATLAS:NDUFA9 xref: HGNC:7693 xref: OMIM:603834 xref: REACTOME:Q16795 xref: UNIPROTKB/SWISSPROT:Q16795 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency property_value: alternative:term "CI-39k" xsd:string property_value: alternative:term "Complex I 39kDa subunit" xsd:string property_value: alternative:term "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)" xsd:string property_value: alternative:term "NDUFS2L" xsd:string property_value: alternative:term "SDR22E1" xsd:string property_value: alternative:term "Short chain dehydrogenase/reductase family 22E, member 1" xsd:string property_value: symbol "NDUFA9" xsd:string [Term] id: Orphanet:291751 name: distal-less homeobox 5 xref: ENSEMBL:ENSG00000105880 xref: GENATLAS:DLX5 xref: HGNC:2918 xref: OMIM:600028 xref: UNIPROTKB/SWISSPROT:P56178 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:71271 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Split hand - split foot - deafness property_value: alternative:term "Distal-less homeo box" xsd:string property_value: alternative:term "distal-less homeo box 5" xsd:string property_value: symbol "DLX5" xsd:string [Term] id: Orphanet:291794 name: ATP-binding cassette, sub-family B (MDR/TAP), member 6 xref: ENSEMBL:ENSG00000115657 xref: GENATLAS:ABCB6 xref: HGNC:47 xref: OMIM:605452 xref: REACTOME:Q9NP58 xref: UNIPROTKB/SWISSPROT:Q9NP58 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:241 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dyschromatosis universalis relationship: Orphanet:317343 Orphanet:98938 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Colobomatous microphthalmia property_value: alternative:term "ATP-binding cassette half-transporter" xsd:string property_value: alternative:term "EST45597" xsd:string property_value: alternative:term "MTABC3" xsd:string property_value: alternative:term "umat" xsd:string property_value: symbol "ABCB6" xsd:string [Term] id: Orphanet:291802 name: receptor-interacting serine-threonine kinase 4 xref: ENSEMBL:ENSG00000183421 xref: GENATLAS:RIPK4 xref: HGNC:496 xref: IUPHAR:2192 xref: OMIM:605706 xref: UNIPROTKB/SWISSPROT:P57078 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1234 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bartsocas-Papas syndrome property_value: alternative:term "ANKK2" xsd:string property_value: alternative:term "ANKRD3" xsd:string property_value: alternative:term "Ankyrin repeat domain 3" xsd:string property_value: alternative:term "DIK" xsd:string property_value: alternative:term "PKC-delta-interacting protein kinase" xsd:string property_value: alternative:term "PKK" xsd:string property_value: alternative:term "Protein kinase C-associated kinase" xsd:string property_value: alternative:term "RIP4" xsd:string property_value: symbol "RIPK4" xsd:string [Term] id: Orphanet:291813 name: collagen, type IV, alpha 2 xref: ENSEMBL:ENSG00000134871 xref: GENATLAS:COL4A2 xref: HGNC:2203 xref: OMIM:120090 xref: REACTOME:P08572 xref: UNIPROTKB/SWISSPROT:P08572 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99810 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial porencephaly property_value: alternative:term "Canstatin" xsd:string property_value: alternative:term "Collagen type IV alpha 2" xsd:string property_value: alternative:term "DKFZp686I14213" xsd:string property_value: alternative:term "FLJ22259" xsd:string property_value: symbol "COL4A2" xsd:string [Term] id: Orphanet:291819 name: enhancer of zeste homolog 2 (Drosophila) xref: ENSEMBL:ENSG00000106462 xref: GENATLAS:EZH2 xref: HGNC:3527 xref: OMIM:601573 xref: REACTOME:Q15910 xref: UNIPROTKB/SWISSPROT:Q15910 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3447 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Weaver syndrome property_value: alternative:term "Enhancer of zeste (Drosophila) homolog 2" xsd:string property_value: alternative:term "ENX-1" xsd:string property_value: alternative:term "EZH1" xsd:string property_value: alternative:term "KMT6" xsd:string property_value: alternative:term "KMT6A" xsd:string property_value: symbol "EZH2" xsd:string [Term] id: Orphanet:291830 name: solute carrier organic anion transporter family, member 2A1 xref: ENSEMBL:ENSG00000174640 xref: GENATLAS:SLCO2A1 xref: HGNC:10955 xref: OMIM:601460 xref: REACTOME:Q92959 xref: UNIPROTKB/SWISSPROT:Q92959 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2796 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pachydermoperiostosis property_value: alternative:term "MATR1" xsd:string property_value: alternative:term "Matrin F/G 1" xsd:string property_value: alternative:term "OATP2A1" xsd:string property_value: alternative:term "PGT" xsd:string property_value: alternative:term "SLC21A2" xsd:string property_value: alternative:term "Solute carrier family 21 (prostaglandin transporter), member 2" xsd:string property_value: symbol "SLCO2A1" xsd:string [Term] id: Orphanet:291843 name: cytochrome c oxidase assembly homolog 14 (S. cerevisiae) xref: ENSEMBL:ENSG00000178449 xref: GENATLAS:C12orf62 xref: HGNC:28216 xref: OMIM:614478 xref: UNIPROTKB/SWISSPROT:Q96I36 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:254905 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated cytochrome C oxidase deficiency property_value: alternative:term "C12orf62" xsd:string property_value: alternative:term "Chromosome 12 open reading frame 62" xsd:string property_value: alternative:term "COX14 cytochrome c oxidase assembly homolog (S. cerevisiae)" xsd:string property_value: alternative:term "MGC14288" xsd:string property_value: symbol "COX14" xsd:string [Term] id: Orphanet:291853 name: GATA binding protein 6 xref: ENSEMBL:ENSG00000141448 xref: GENATLAS:GATA6 xref: HGNC:4174 xref: OMIM:601656 xref: REACTOME:Q92908 xref: UNIPROTKB/SWISSPROT:Q92908 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1329 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Complete atrioventricular canal relationship: Orphanet:317343 Orphanet:1330 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Partial atrioventricular canal relationship: Orphanet:317343 Orphanet:2255 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pancreatic hypoplasia - diabetes - congenital heart disease relationship: Orphanet:317343 Orphanet:99103 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atrial septal defect, ostium secundum type relationship: Orphanet:317345 Orphanet:3303 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Tetralogy of Fallot relationship: Orphanet:317345 Orphanet:334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial atrial fibrillation property_value: alternative:term "GATA-binding protein 6" xsd:string property_value: symbol "GATA6" xsd:string [Term] id: Orphanet:291856 name: deoxyribonuclease I-like 3 xref: ENSEMBL:ENSG00000163687 xref: GENATLAS:DNASE1L3 xref: HGNC:2959 xref: OMIM:602244 xref: UNIPROTKB/SWISSPROT:Q13609 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:300345 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive systemic lupus erythematosus relationship: Orphanet:317343 Orphanet:36412 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypocomplementemic urticarial vasculitis property_value: alternative:term "DNAS1L3" xsd:string property_value: alternative:term "DNase gamma" xsd:string property_value: alternative:term "LSD" xsd:string property_value: symbol "DNASE1L3" xsd:string [Term] id: Orphanet:2919 name: Orofaciodigital syndrome type 5 xref: ICD10:Q87.0 xref: OMIM:174300 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:140997 ! Orofaciodigital syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "OFD5" xsd:string property_value: alternative:term "Oral-facial-digital syndrome type 5" xsd:string property_value: alternative:term "Orofaciodigital syndrome, Thurston type" xsd:string property_value: alternative:term "Polydactyly postaxial with median cleft of upper lip" xsd:string property_value: alternative:term "Thurston syndrome" xsd:string [Term] id: Orphanet:291915 name: butyrophilin-like 2 (MHC class II associated) xref: ENSEMBL:ENSG00000204290 xref: GENATLAS:BTNL2 xref: HGNC:1142 xref: OMIM:606000 xref: UNIPROTKB/SWISSPROT:Q9UIR0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:797 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Sarcoidosis property_value: alternative:term "BTL-II" xsd:string property_value: alternative:term "BTN7" xsd:string property_value: alternative:term "HSBLMHC1" xsd:string property_value: symbol "BTNL2" xsd:string [Term] id: Orphanet:292 name: Congenital enterovirus infection xref: ICD10:P35.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:232035 ! Infectious embryofetopathy property_value: alternative:term "Enterovirus antenatal infection" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embriofetopathy that have been reported to cause fetal malformations, acute systemic illness in the newborn and long-term neurodevelopmental abnormalities" xsd:string [Term] id: Orphanet:2920 name: Oliver syndrome xref: ICD10:Q87.2 xref: OMIM:258200 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "Postaxial polydactyly - intellectual deficit" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy." xsd:string [Term] id: Orphanet:292027 name: NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa xref: ENSEMBL:ENSG00000147684 xref: GENATLAS:NDUFB9 xref: HGNC:7704 xref: OMIM:601445 xref: REACTOME:Q9Y6M9 xref: UNIPROTKB/SWISSPROT:Q9Y6M9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency property_value: alternative:term "B22" xsd:string property_value: alternative:term "Complex I B22 subunit" xsd:string property_value: alternative:term "LYRM3" xsd:string property_value: alternative:term "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)" xsd:string property_value: alternative:term "UQOR22" xsd:string property_value: symbol "NDUFB9" xsd:string [Term] id: Orphanet:292035 name: basic helix-loop-helix family, member a9 xref: ENSEMBL:ENSG00000205899 xref: GENATLAS:BHLHA9 xref: HGNC:35126 xref: OMIM:615416 xref: UNIPROTKB/SWISSPROT:Q7RTU4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:3329 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Tibial aplasia - ectrodactyly property_value: alternative:term "bHLHa9" xsd:string property_value: alternative:term "BHLHF42" xsd:string property_value: symbol "BHLHA9" xsd:string [Term] id: Orphanet:292052 name: homeobox B13 xref: ENSEMBL:ENSG00000159184 xref: GENATLAS:HOXB13 xref: HGNC:5112 xref: OMIM:604607 xref: UNIPROTKB/SWISSPROT:Q92826 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:1331 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial prostate cancer property_value: alternative:term "Homeo box B13" xsd:string property_value: symbol "HOXB13" xsd:string [Term] id: Orphanet:29207 name: Reactive arthritis xref: ICD10:M02.8 xref: MEDDRA:10003267 xref: MEDDRA:10038294 xref: MESH:D016918 xref: SNOMED CT:129133005 xref: SNOMED CT:236690002 xref: SNOMED CT:239783001 xref: SNOMED CT:67224007 xref: UMLS:C0035012 xref: UMLS:C0085435 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:93688 ! Nonidiopathic juvenile arthritis property_value: alternative:term "Arthritis urethritica" xsd:string property_value: alternative:term "Fiessinger-Leroy disease" xsd:string property_value: alternative:term "Fiessinger-Leroy-Reiter syndrome" xsd:string property_value: alternative:term "Polyarteritis enterica" xsd:string property_value: alternative:term "Reiter syndrome" xsd:string property_value: alternative:term "Venereal arthritis" xsd:string [Term] id: Orphanet:292088 name: teashirt zinc finger homeobox 1 xref: ENSEMBL:ENSG00000179981 xref: GENATLAS:TSHZ1 xref: HGNC:10669 xref: OMIM:614427 xref: UNIPROTKB/SWISSPROT:Q6ZSZ6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:83463 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microtia property_value: alternative:term "NY-CO-33" xsd:string property_value: alternative:term "SDCCAG33" xsd:string property_value: alternative:term "Serologically defined colon cancer antigen 33" xsd:string property_value: alternative:term "Teashirt family zinc finger 1" xsd:string property_value: alternative:term "Teashirt zinc finger 1" xsd:string property_value: alternative:term "TSH1" xsd:string property_value: symbol "TSHZ1" xsd:string [Term] id: Orphanet:292098 name: multiple EGF-like-domains 10 xref: ENSEMBL:ENSG00000145794 xref: GENATLAS:MEGF10 xref: HGNC:29634 xref: OMIM:612453 xref: UNIPROTKB/SWISSPROT:Q96KG7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98920 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinal muscular atrophy with respiratory distress property_value: alternative:term "KIAA1780" xsd:string property_value: symbol "MEGF10" xsd:string [Term] id: Orphanet:2921 name: Preaxial polydactyly - colobomata - intellectual deficit is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Pfeiffer-Mayer syndrome" xsd:string [Term] id: Orphanet:292102 name: centrosomal protein 63kDa xref: ENSEMBL:ENSG00000182923 xref: GENATLAS:CEP63 xref: HGNC:25815 xref: OMIM:614724 xref: REACTOME:Q96MT8 xref: UNIPROTKB/SWISSPROT:Q96MT8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2512 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive primary microcephaly property_value: alternative:term "FLJ13386" xsd:string property_value: symbol "CEP63" xsd:string [Term] id: Orphanet:292134 name: thyroid hormone receptor, alpha xref: ENSEMBL:ENSG00000126351 xref: GENATLAS:THRA xref: HGNC:11796 xref: IUPHAR:588 xref: OMIM:190120 xref: REACTOME:P10827 xref: UNIPROTKB/SWISSPROT:P10827 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:97927 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Peripheral resistance to thyroid hormones property_value: alternative:term "AR7" xsd:string property_value: alternative:term "EAR-7.1/EAR-7.2" xsd:string property_value: alternative:term "ERBA" xsd:string property_value: alternative:term "ERBA1" xsd:string property_value: alternative:term "NR1A1" xsd:string property_value: alternative:term "THRA1" xsd:string property_value: alternative:term "THRA2" xsd:string property_value: alternative:term "THRA3" xsd:string property_value: alternative:term "Thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)" xsd:string property_value: alternative:term "Thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)" xsd:string property_value: symbol "THRA" xsd:string [Term] id: Orphanet:292175 name: bicaudal C homolog 1 (Drosophila) xref: ENSEMBL:ENSG00000122870 xref: GENATLAS:BICC1 xref: HGNC:19351 xref: OMIM:614295 xref: UNIPROTKB/SWISSPROT:Q9H694 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:97363 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Unilateral multicystic renal dysplasia relationship: Orphanet:317345 Orphanet:97364 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bilateral multicystic renal dysplasia property_value: symbol "BICC1" xsd:string [Term] id: Orphanet:292247 name: aldo-keto reductase family 1, member C2 xref: ENSEMBL:ENSG00000151632 xref: GENATLAS:AKR1C2 xref: HGNC:385 xref: OMIM:600450 xref: REACTOME:P52895 xref: UNIPROTKB/SWISSPROT:P52895 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90796 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 46,XY disorder of sex development due to isolated 17, 20 lyase deficiency property_value: alternative:term "3-alpha hydroxysteroid dehydrogenase, type III" xsd:string property_value: alternative:term "BABP" xsd:string property_value: alternative:term "DD" xsd:string property_value: alternative:term "DD2" xsd:string property_value: alternative:term "DDH2" xsd:string property_value: alternative:term "dihydrodiol dehydrogenase 2; bile acid binding protein" xsd:string property_value: alternative:term "dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III" xsd:string property_value: alternative:term "HAKRD" xsd:string property_value: alternative:term "MCDR2" xsd:string property_value: symbol "AKR1C2" xsd:string [Term] id: Orphanet:292259 name: aldo-keto reductase family 1, member C4 xref: ENSEMBL:ENSG00000198610 xref: GENATLAS:AKR1C4 xref: HGNC:387 xref: OMIM:600451 xref: REACTOME:P17516 xref: UNIPROTKB/SWISSPROT:P17516 is_a: Orphanet:C010 ! gene relationship: Orphanet:317346 Orphanet:90796 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 46,XY disorder of sex development due to isolated 17, 20 lyase deficiency property_value: alternative:term "'chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4'" xsd:string property_value: alternative:term "3-alpha hydroxysteroid dehydrogenase, type I" xsd:string property_value: alternative:term "3-alpha-HSD" xsd:string property_value: alternative:term "C11" xsd:string property_value: alternative:term "CDR" xsd:string property_value: alternative:term "CHDR" xsd:string property_value: alternative:term "Chlordecone reductase" xsd:string property_value: alternative:term "chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4" xsd:string property_value: alternative:term "DD4" xsd:string property_value: alternative:term "Dihydrodiol dehydrogenase 4" xsd:string property_value: alternative:term "HAKRA" xsd:string property_value: alternative:term "MGC22581" xsd:string property_value: symbol "AKR1C4" xsd:string [Term] id: Orphanet:292297 name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 xref: ENSEMBL:ENSG00000080503 xref: GENATLAS:SMARCA2 xref: HGNC:11098 xref: OMIM:600014 xref: UNIPROTKB/SWISSPROT:P51531 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3051 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intellectual deficit - sparse hair - brachydactyly property_value: alternative:term "BAF190" xsd:string property_value: alternative:term "BRM" xsd:string property_value: alternative:term "hBRM" xsd:string property_value: alternative:term "hSNF2a" xsd:string property_value: alternative:term "SNF2" xsd:string property_value: alternative:term "SNF2L2" xsd:string property_value: alternative:term "SNF2LA" xsd:string property_value: alternative:term "Sth1p" xsd:string property_value: alternative:term "SWI2" xsd:string property_value: symbol "SMARCA2" xsd:string [Term] id: Orphanet:292309 name: Snf2-related CREBBP activator protein xref: ENSEMBL:ENSG00000080603 xref: GENATLAS:SRCAP xref: HGNC:16974 xref: OMIM:611421 xref: UNIPROTKB/SWISSPROT:Q6ZRS2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2044 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Floating-Harbor syndrome property_value: alternative:term "Domino homolog 1 (Drosophila)" xsd:string property_value: alternative:term "DOMO1" xsd:string property_value: alternative:term "EAF1" xsd:string property_value: alternative:term "KIAA0309" xsd:string property_value: alternative:term "Swi2/Snf2-related ATPase homolog (S. cerevisiae)" xsd:string property_value: alternative:term "SWR1" xsd:string property_value: symbol "SRCAP" xsd:string [Term] id: Orphanet:292321 name: NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa xref: ENSEMBL:ENSG00000119013 xref: GENATLAS:NDUFB3 xref: HGNC:7698 xref: OMIM:603839 xref: REACTOME:O43676 xref: UNIPROTKB/SWISSPROT:O43676 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency property_value: alternative:term "B12" xsd:string property_value: alternative:term "Complex I B12 subunit" xsd:string property_value: alternative:term "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3 (12kD, B12)" xsd:string property_value: symbol "NDUFB3" xsd:string [Term] id: Orphanet:292376 name: chordin-like 1 xref: ENSEMBL:ENSG00000101938 xref: GENATLAS:CHRDL1 xref: HGNC:29861 xref: OMIM:300350 xref: REACTOME:Q9BU40 xref: UNIPROTKB/SWISSPROT:Q9BU40 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:91489 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated congenital megalocornea property_value: alternative:term "CHL" xsd:string property_value: alternative:term "NRLN1" xsd:string property_value: symbol "CHRDL1" xsd:string [Term] id: Orphanet:292381 name: G protein-coupled receptor 179 xref: ENSEMBL:ENSG00000188888 xref: GENATLAS:GPR179 xref: HGNC:31371 xref: IUPHAR:211 xref: OMIM:614515 xref: UNIPROTKB/SWISSPROT:Q6PRD1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:215 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital stationary night blindness property_value: alternative:term "GPR158-like 1" xsd:string property_value: alternative:term "GPR158L1" xsd:string property_value: alternative:term "GPR179" xsd:string property_value: symbol "GPR179" xsd:string [Term] id: Orphanet:292385 name: rhomboid 5 homolog 2 (Drosophila) xref: ENSEMBL:ENSG00000129667 xref: GENATLAS:RHBDF2 xref: HGNC:20788 xref: OMIM:614404 xref: UNIPROTKB/SWISSPROT:Q6PJF5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2198 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Palmoplantar keratoderma-esophageal carcinoma syndrome property_value: alternative:term "FLJ22341" xsd:string property_value: alternative:term "RHBDL5" xsd:string property_value: alternative:term "RHBDL6" xsd:string property_value: alternative:term "Rhomboid, veinlet-like 6 (Drosophila)" xsd:string property_value: symbol "RHBDF2" xsd:string [Term] id: Orphanet:2924 name: Isolated polycystic liver disease xref: ICD10:Q44.6 xref: MEDDRA:10010427 xref: MEDDRA:10048834 xref: MESH:C536330 xref: OMIM:174050 xref: SNOMED CT:72925005 xref: UMLS:C0158683 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:101939 ! Rare parenchymatous liver disease relationship: part_of Orphanet:156604 ! Genetic parenchymatous liver disease property_value: alternative:term "ADPCLD" xsd:string property_value: alternative:term "Autosomal dominant polycystic liver disease" xsd:string property_value: alternative:term "PCLD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD)." xsd:string [Term] id: Orphanet:292401 name: kinesin family member 11 xref: ENSEMBL:ENSG00000138160 xref: GENATLAS:KIF11 xref: HGNC:6388 xref: OMIM:148760 xref: REACTOME:P52732 xref: UNIPROTKB/SWISSPROT:P52732 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2526 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microcephaly - lymphedema - chorioretinopathy property_value: alternative:term "Eg5" xsd:string property_value: alternative:term "HKSP" xsd:string property_value: alternative:term "Kinesin-like 1" xsd:string property_value: alternative:term "KNSL1" xsd:string property_value: alternative:term "TRIP5" xsd:string property_value: symbol "KIF11" xsd:string [Term] id: Orphanet:292410 name: elongation factor Tu GTP binding domain containing 2 xref: ENSEMBL:ENSG00000108883 xref: GENATLAS:EFTUD2 xref: HGNC:30858 xref: OMIM:603892 xref: REACTOME:Q15029 xref: UNIPROTKB/SWISSPROT:Q15029 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79113 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mandibulofacial dysostosis-microcephaly syndrome property_value: alternative:term "SNRNP116" xsd:string property_value: alternative:term "Snrp116" xsd:string property_value: alternative:term "Snu114" xsd:string property_value: alternative:term "U5 snRNP specific protein, 116 kD" xsd:string property_value: alternative:term "U5-116KD" xsd:string property_value: symbol "EFTUD2" xsd:string [Term] id: Orphanet:292419 name: toll-like receptor adaptor molecule 1 xref: ENSEMBL:ENSG00000127666 xref: GENATLAS:TICAM1 xref: HGNC:18348 xref: OMIM:607601 xref: REACTOME:Q8IUC6 xref: UNIPROTKB/SWISSPROT:Q8IUC6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:1930 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Herpetic encephalitis property_value: alternative:term "MGC35334" xsd:string property_value: alternative:term "PRVTIRB" xsd:string property_value: alternative:term "TICAM-1" xsd:string property_value: alternative:term "TRIF" xsd:string property_value: symbol "TICAM1" xsd:string [Term] id: Orphanet:292425 name: TNF receptor-associated factor 3 xref: ENSEMBL:ENSG00000131323 xref: GENATLAS:TRAF3 xref: HGNC:12033 xref: OMIM:601896 xref: REACTOME:Q13114 xref: UNIPROTKB/SWISSPROT:Q13114 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:1930 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Herpetic encephalitis property_value: alternative:term "CAP-1" xsd:string property_value: alternative:term "CD40bp" xsd:string property_value: alternative:term "CRAF1" xsd:string property_value: alternative:term "LAP1" xsd:string property_value: symbol "TRAF3" xsd:string [Term] id: Orphanet:292437 name: solute carrier organic anion transporter family, member 1B3 xref: ENSEMBL:ENSG00000111700 xref: GENATLAS:SLCO1B3 xref: HGNC:10961 xref: OMIM:605495 xref: REACTOME:Q9NPD5 xref: UNIPROTKB/SWISSPROT:Q9NPD5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3111 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rotor syndrome property_value: alternative:term "OATP1B3" xsd:string property_value: alternative:term "OATP8" xsd:string property_value: alternative:term "SLC21A8" xsd:string property_value: alternative:term "Solute carrier family 21 (organic anion transporter), member 8" xsd:string property_value: symbol "SLCO1B3" xsd:string [Term] id: Orphanet:292448 name: WAS/WASL interacting protein family, member 1 xref: ENSEMBL:ENSG00000115935 xref: GENATLAS:WIPF1 xref: HGNC:12736 xref: OMIM:602357 xref: REACTOME:O43516 xref: UNIPROTKB/SWISSPROT:O43516 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:906 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Wiskott-Aldrich syndrome property_value: alternative:term "WASPIP" xsd:string property_value: alternative:term "WIP" xsd:string property_value: alternative:term "Wiskott-Aldrich syndrome protein interacting protein" xsd:string property_value: symbol "WIPF1" xsd:string [Term] id: Orphanet:2925 name: Polymicrogyria - turricephaly - hypogenitalism is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:2926 name: Polyneuropathy - hand defect xref: OMIM:207740 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:140450 ! Hereditary motor and sensory neuropathy property_value: alternative:term "Hamanishi-Ueba-Tsuji syndrome" xsd:string [Term] id: Orphanet:292693 name: KiSS-1 metastasis-suppressor xref: ENSEMBL:ENSG00000170498 xref: GENATLAS:KISS1 xref: HGNC:6341 xref: OMIM:603286 xref: REACTOME:Q15726 xref: UNIPROTKB/SWISSPROT:Q15726 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:432 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Normosmic congenital hypogonadotropic hypogonadism property_value: alternative:term "kisspeptin" xsd:string property_value: alternative:term "prepro-kisspeptin" xsd:string property_value: symbol "KISS1" xsd:string [Term] id: Orphanet:292698 name: retinoblastoma binding protein 8 xref: ENSEMBL:ENSG00000101773 xref: GENATLAS:RBBP8 xref: HGNC:9891 xref: OMIM:604124 xref: REACTOME:Q99708 xref: UNIPROTKB/SWISSPROT:Q99708 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:313795 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Jawad syndrome relationship: Orphanet:317343 Orphanet:808 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Seckel syndrome property_value: alternative:term "COM1" xsd:string property_value: alternative:term "CTBP-interacting protein" xsd:string property_value: alternative:term "CtIP" xsd:string property_value: alternative:term "Retinoblastoma-binding protein 8" xsd:string property_value: alternative:term "RIM" xsd:string property_value: alternative:term "SCKL2" xsd:string property_value: alternative:term "Seckel syndrome 2" xsd:string property_value: symbol "RBBP8" xsd:string [Term] id: Orphanet:2928 name: Polyneuropathy - intellectual deficit - acromicria - premature menopause is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Lundberg syndrome" xsd:string [Term] id: Orphanet:2929 name: Juvenile polyposis syndrome xref: ICD10:D12.6 xref: OMIM:174900 xref: OMIM:175050 xref: OMIM:612242 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:104010 ! Intestinal polyposis syndrome relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:363314 ! Genetic intestinal polyposis property_value: alternative:term "JIP" xsd:string property_value: alternative:term "JPS" xsd:string property_value: alternative:term "Juvenile gastrointestinal polyposis" xsd:string property_value: alternative:term "Juvenile intestinal polyposis" xsd:string [Term] id: Orphanet:292990 name: transmembrane protein 138 xref: ENSEMBL:ENSG00000149483 xref: GENATLAS:TMEM138 xref: HGNC:26944 xref: OMIM:614459 xref: UNIPROTKB/SWISSPROT:Q9NPI0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2318 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with oculorenal defect property_value: alternative:term "HSPC196" xsd:string property_value: symbol "TMEM138" xsd:string [Term] id: Orphanet:292992 name: centrosomal protein 41kDa xref: ENSEMBL:ENSG00000106477 xref: GENATLAS:CEP41 xref: HGNC:12370 xref: OMIM:610523 xref: REACTOME:Q9BYV8 xref: UNIPROTKB/SWISSPROT:Q9BYV8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220493 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with ocular defect relationship: Orphanet:317343 Orphanet:475 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome property_value: alternative:term "DKFZp762H1311" xsd:string property_value: alternative:term "FLJ22445" xsd:string property_value: alternative:term "JBTS15" xsd:string property_value: alternative:term "Testis specific, 14" xsd:string property_value: alternative:term "TSGA14" xsd:string property_value: symbol "CEP41" xsd:string [Term] id: Orphanet:293 name: Congenital herpes virus infection xref: ICD10:P35.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163585 ! Rare viral disease relationship: part_of Orphanet:232035 ! Infectious embryofetopathy property_value: alternative:term "Herpes virus antenatal infection" xsd:string [Term] id: Orphanet:2930 name: Cronkhite-Canada syndrome xref: MEDDRA:10062907 xref: OMIM:175500 xref: SNOMED CT:76304001 xref: UMLS:C0282207 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:104010 ! Intestinal polyposis syndrome relationship: part_of Orphanet:363314 ! Genetic intestinal polyposis relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Gastrointestinal polyposis - ectodermal changes" xsd:string property_value: alternative:term "Gastrointestinal polyposis - skin pigmentation - alopecia - fingernail changes" xsd:string [Term] id: Orphanet:293019 name: DIS3 mitotic control homolog (S. cerevisiae)-like 2 xref: ENSEMBL:ENSG00000144535 xref: GENATLAS:DIS3L2 xref: HGNC:28648 xref: OMIM:614184 xref: UNIPROTKB/SWISSPROT:Q8IYB7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2849 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Perlman syndrome relationship: Orphanet:317345 Orphanet:654 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nephroblastoma property_value: alternative:term "FAM6A" xsd:string property_value: alternative:term "Family with sequence similarity 6, member A" xsd:string property_value: alternative:term "FLJ36974" xsd:string property_value: alternative:term "MGC42174" xsd:string property_value: symbol "DIS3L2" xsd:string [Term] id: Orphanet:293028 name: solute carrier family 20 (phosphate transporter), member 2 xref: ENSEMBL:ENSG00000168575 xref: GENATLAS:SLC20A2 xref: HGNC:10947 xref: OMIM:158378 xref: REACTOME:Q08357 xref: UNIPROTKB/SWISSPROT:Q08357 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1980 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bilateral striopallidodentate calcinosis property_value: alternative:term "Glvr-2" xsd:string property_value: alternative:term "GLVR2" xsd:string property_value: alternative:term "MLVAR" xsd:string property_value: alternative:term "PiT-2" xsd:string property_value: symbol "SLC20A2" xsd:string [Term] id: Orphanet:293034 name: CXADR-like membrane protein xref: ENSEMBL:ENSG00000166250 xref: GENATLAS:ASAM xref: HGNC:24039 xref: OMIM:611693 xref: UNIPROTKB/SWISSPROT:Q9H6B4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2301 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital short bowel syndrome property_value: alternative:term "ACAM" xsd:string property_value: alternative:term "Adipocyte adhesion molecule" xsd:string property_value: alternative:term "Adipocyte-specific adhesion molecule" xsd:string property_value: alternative:term "ASAM" xsd:string property_value: alternative:term "Coxsackie- and adenovirus receptor-like membrane protein" xsd:string property_value: alternative:term "FLJ22415" xsd:string property_value: symbol "CLMP" xsd:string [Term] id: Orphanet:293042 name: dystonin xref: ENSEMBL:ENSG00000151914 xref: GENATLAS:DST xref: HGNC:1090 xref: OMIM:113810 xref: REACTOME:Q03001 xref: UNIPROTKB/SWISSPROT:Q03001 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314381 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary sensory and autonomic neuropathy type 6 relationship: Orphanet:317343 Orphanet:89838 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive epidermolysis bullosa simplex property_value: alternative:term "BP240" xsd:string property_value: alternative:term "BPA" xsd:string property_value: alternative:term "BPAG1" xsd:string property_value: alternative:term "Bullous pemphigoid antigen 1, 230/240kDa" xsd:string property_value: alternative:term "CATX-15" xsd:string property_value: alternative:term "FLJ13425" xsd:string property_value: alternative:term "FLJ21489" xsd:string property_value: alternative:term "FLJ30627" xsd:string property_value: alternative:term "FLJ32235" xsd:string property_value: alternative:term "KIAA0728" xsd:string property_value: alternative:term "MACF2" xsd:string property_value: symbol "DST" xsd:string [Term] id: Orphanet:293085 name: calcium channel, voltage-dependent, gamma subunit 2 xref: ENSEMBL:ENSG00000166862 xref: GENATLAS:CACNG2 xref: HGNC:1406 xref: OMIM:602911 xref: REACTOME:Q9Y698 xref: UNIPROTKB/SWISSPROT:Q9Y698 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178469 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic intellectual deficit property_value: alternative:term "MGC138502" xsd:string property_value: alternative:term "MGC138504" xsd:string property_value: alternative:term "Stargazin" xsd:string property_value: symbol "CACNG2" xsd:string [Term] id: Orphanet:293091 name: erythrocyte membrane protein band 4.1-like 1 xref: ENSEMBL:ENSG00000088367 xref: GENATLAS:EPB41L1 xref: HGNC:3378 xref: OMIM:602879 xref: REACTOME:Q9H4G0 xref: UNIPROTKB/SWISSPROT:Q9H4G0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178469 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic intellectual deficit property_value: alternative:term "KIAA0338" xsd:string property_value: symbol "EPB41L1" xsd:string [Term] id: Orphanet:293095 name: AT rich interactive domain 1B (SWI1-like) xref: ENSEMBL:ENSG00000049618 xref: GENATLAS:ARID1B xref: HGNC:18040 xref: OMIM:614556 xref: UNIPROTKB/SWISSPROT:Q8NFD5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1465 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Coffin-Siris syndrome relationship: Orphanet:317343 Orphanet:3051 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intellectual deficit - sparse hair - brachydactyly relationship: Orphanet:317349 Orphanet:251056 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! 6q25 microdeletion syndrome property_value: alternative:term "6A3-5" xsd:string property_value: alternative:term "BAF250b" xsd:string property_value: alternative:term "DAN15" xsd:string property_value: alternative:term "ELD/OSA1" xsd:string property_value: alternative:term "KIAA1235" xsd:string property_value: alternative:term "p250R" xsd:string property_value: symbol "ARID1B" xsd:string [Term] id: Orphanet:293103 name: AT rich interactive domain 1A (SWI-like) xref: ENSEMBL:ENSG00000117713 xref: GENATLAS:ARID1A xref: HGNC:11110 xref: OMIM:603024 xref: UNIPROTKB/SWISSPROT:O14497 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1465 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Coffin-Siris syndrome property_value: alternative:term "AT rich interactive domain 1A (SWI- like)" xsd:string property_value: alternative:term "B120" xsd:string property_value: alternative:term "BAF250" xsd:string property_value: alternative:term "BAF250a" xsd:string property_value: alternative:term "C10rf4" xsd:string property_value: alternative:term "C1orf4" xsd:string property_value: alternative:term "P270" xsd:string property_value: alternative:term "SMARCF1" xsd:string property_value: alternative:term "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1" xsd:string property_value: symbol "ARID1A" xsd:string [Term] id: Orphanet:293114 name: thromboxane A2 receptor xref: ENSEMBL:ENSG00000006638 xref: GENATLAS:TBXA2R xref: HGNC:11608 xref: IUPHAR:346 xref: OMIM:188070 xref: REACTOME:P21731 xref: UNIPROTKB/SWISSPROT:P21731 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:220443 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Bleeding diathesis due to thromboxane synthesis deficiency property_value: symbol "TBXA2R" xsd:string [Term] id: Orphanet:293144 name: Familial clubfoot due to 5q31 microdeletion xref: ICD10:Q66.8 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:199315 ! Familial clubfoot with or without associated lower limb anomalies property_value: alternative:term "Hereditary clubfoot due to 5q31 microdeletion" xsd:string [Term] id: Orphanet:293150 name: Familial clubfoot due to PITX1 point mutation xref: ICD10:Q66.8 xref: OMIM:119800 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:199315 ! Familial clubfoot with or without associated lower limb anomalies relationship: part_of Orphanet:93455 ! Patellar dysostosis property_value: alternative:term "Hereditary clubfoot due to PITX1 point mutation" xsd:string [Term] id: Orphanet:293165 name: Skin fragility-woolly hair-palmoplantar keratoderma syndrome xref: ICD10:Q82.8 xref: OMIM:607655 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:307804 ! Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature property_value: alternative:term "Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome" xsd:string [Term] id: Orphanet:293168 name: Infantile-onset ascending hereditary spastic paralysis xref: ICD10:G12.2 xref: OMIM:607225 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98505 ! Genetic motor neuron disease property_value: alternative:term "IAHSP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria." xsd:string [Term] id: Orphanet:293173 name: Acute generalized exanthematous pustulosis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:293815 ! Toxic dermatosis property_value: alternative:term "AGEP" xsd:string property_value: alternative:term "Pustular drug eruption" xsd:string property_value: alternative:term "Toxic pustuloderma" xsd:string [Term] id: Orphanet:293181 name: Malignant migrating partial seizures of infancy xref: OMIM:613722 xref: OMIM:614959 xref: OMIM:615338 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:182083 ! Channelopathy with epilepsy relationship: part_of Orphanet:98257 ! Neonatal epilepsy syndrome property_value: alternative:term "Malignant migrating partial epilepsy of infancy" xsd:string property_value: alternative:term "Migrating partial epilepsy of infancy" xsd:string property_value: alternative:term "Migrating partial seizures of infancy" xsd:string property_value: alternative:term "MMPEI" xsd:string property_value: alternative:term "MMPSI" xsd:string property_value: alternative:term "MPEI" xsd:string property_value: alternative:term "MPSI" xsd:string [Term] id: Orphanet:293190 name: Pleomorphic undifferentiated sarcoma xref: ICD10:C49.9 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:3394 ! Soft tissue sarcoma property_value: alternative:term "Malignant fibrous histiocytoma" xsd:string property_value: alternative:term "MFH" xsd:string property_value: alternative:term "PUS" xsd:string [Term] id: Orphanet:293199 name: Pleomorphic rhabdomyosarcoma xref: ICD10:C49.9 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:3394 ! Soft tissue sarcoma [Term] id: Orphanet:2932 name: Chronic inflammatory demyelinating polyneuropathy xref: ICD10:G61.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:182064 ! Rare neuroinflammatory or neuroimmunological disease relationship: part_of Orphanet:208978 ! Chronic polyradiculoneuropathy property_value: alternative:term "Chronic inflammatory demyelinating polyradiculoneuropathy" xsd:string property_value: alternative:term "CIDP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins." xsd:string [Term] id: Orphanet:293202 name: Epithelioid sarcoma xref: ICD10:C49.9 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:3394 ! Soft tissue sarcoma [Term] id: Orphanet:293208 name: Celiac trunk compression syndrome xref: ICD10:I77.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:165711 ! Rare abdominal surgical disease [Term] id: Orphanet:293284 name: Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria xref: ICD10:E70.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:716 ! Phenylketonuria property_value: alternative:term "BH4-responsive HPA/PKU" xsd:string property_value: alternative:term "BH4-responsive hyperphenylalaninemia/phenylketonuria" xsd:string property_value: alternative:term "Tetrahydrobiopterin-responsive HPA/PKU" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria (BH4-responsive hyperphenylalaninemia/phenylketonuria) is a form of phenylketonuria (PKU, see this term), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase." xsd:string [Term] id: Orphanet:293293 name: cyclin-dependent kinase inhibitor 1A (p21, Cip1) xref: ENSEMBL:ENSG00000124762 xref: GENATLAS:CDKN1A xref: HGNC:1784 xref: OMIM:116899 xref: REACTOME:P38936 xref: UNIPROTKB/SWISSPROT:P38936 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:652 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Multiple endocrine neoplasia type 1 property_value: alternative:term "CAP20" xsd:string property_value: alternative:term "CDKN1" xsd:string property_value: alternative:term "CIP1" xsd:string property_value: alternative:term "P21" xsd:string property_value: alternative:term "p21CIP1" xsd:string property_value: alternative:term "p21Cip1/Waf1" xsd:string property_value: alternative:term "SDI1" xsd:string property_value: alternative:term "WAF1" xsd:string property_value: symbol "CDKN1A" xsd:string [Term] id: Orphanet:293303 name: cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) xref: ENSEMBL:ENSG00000147883 xref: GENATLAS:CDKN2B xref: HGNC:1788 xref: OMIM:600431 xref: REACTOME:P42772 xref: UNIPROTKB/SWISSPROT:P42772 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:618 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial melanoma relationship: Orphanet:327767 Orphanet:652 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Multiple endocrine neoplasia type 1 property_value: alternative:term "CDK4I" xsd:string property_value: alternative:term "INK4B" xsd:string property_value: alternative:term "MTS2" xsd:string property_value: alternative:term "P15" xsd:string property_value: alternative:term "p15INK4b" xsd:string property_value: alternative:term "TP15" xsd:string property_value: symbol "CDKN2B" xsd:string [Term] id: Orphanet:293311 name: cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) xref: ENSEMBL:ENSG00000123080 xref: GENATLAS:CDKN2C xref: HGNC:1789 xref: OMIM:603369 xref: REACTOME:P42773 xref: UNIPROTKB/SWISSPROT:P42773 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:652 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Multiple endocrine neoplasia type 1 property_value: alternative:term "INK4C" xsd:string property_value: alternative:term "p18" xsd:string property_value: symbol "CDKN2C" xsd:string [Term] id: Orphanet:293315 name: SH2B adaptor protein 1 xref: ENSEMBL:ENSG00000178188 xref: GENATLAS:SH2B1 xref: HGNC:30417 xref: OMIM:608937 xref: REACTOME:Q9NRF2 xref: UNIPROTKB/SWISSPROT:Q9NRF2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:329249 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency relationship: Orphanet:317349 Orphanet:261197 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Proximal 16p11.2 microdeletion syndrome relationship: Orphanet:317349 Orphanet:261222 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Distal 16p11.2 microdeletion syndrome property_value: alternative:term "FLJ30542" xsd:string property_value: alternative:term "SH2-B homolog" xsd:string property_value: alternative:term "SH2B" xsd:string property_value: symbol "SH2B1" xsd:string [Term] id: Orphanet:293326 name: leucine zipper-EF-hand containing transmembrane protein 1 xref: ENSEMBL:ENSG00000168924 xref: GENATLAS:LETM1 xref: HGNC:6556 xref: OMIM:604407 xref: UNIPROTKB/SWISSPROT:O95202 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:280 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Wolf-Hirschhorn syndrome property_value: alternative:term "Mdm38 homolog (yeast)" xsd:string property_value: symbol "LETM1" xsd:string [Term] id: Orphanet:293355 name: Methylmalonic acidemia without homocystinuria xref: ICD10:E71.1 is_a: Orphanet:79163 ! Classic organic aciduria relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "Methylmalonic aciduria without homocystinuria" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase." xsd:string [Term] id: Orphanet:293375 name: Grayson-Wilbrandt corneal dystrophy xref: ICD10:H18.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98625 ! Superficial corneal dystrophy property_value: alternative:term "GWCD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity." xsd:string [Term] id: Orphanet:293381 name: Epithelial recurrent erosion dystrophy xref: ICD10:H18.5 xref: OMIM:122400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98625 ! Superficial corneal dystrophy property_value: alternative:term "Dystrophia Helsinglandica" xsd:string property_value: alternative:term "Dystrophia Smolandiensis" xsd:string property_value: alternative:term "ERED" xsd:string property_value: alternative:term "Recurrent hereditary corneal erosions" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision." xsd:string [Term] id: Orphanet:2934 name: Polysyndactyly - cardiac malformation xref: ICD10:Q87.8 xref: OMIM:263630 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Bonneau syndrome" xsd:string [Term] id: Orphanet:293462 name: Pre-Descemet corneal dystrophy xref: ICD10:H18.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98626 ! Stromal corneal dystrophy property_value: alternative:term "PDCD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision." xsd:string [Term] id: Orphanet:2935 name: Crossed polysyndactyly xref: ICD10:Q70.4 xref: OMIM:175690 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "Crossed polydactyly" xsd:string [Term] id: Orphanet:293603 name: Congenital hereditary endothelial dystrophy type II xref: ICD10:H18.5 xref: OMIM:217700 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98627 ! Posterior corneal dystrophy property_value: alternative:term "Autosomal recessive CHED" xsd:string property_value: alternative:term "Autosomal recessive congenital hereditary endothelial dystrophy" xsd:string property_value: alternative:term "CHED2" xsd:string property_value: alternative:term "CHEDII" xsd:string property_value: alternative:term "Congenital hereditary endothelial dystrophy type 2" xsd:string property_value: alternative:term "Infantile hereditary endothelial dystrophy" xsd:string property_value: alternative:term "Maumenee corneal dystrophy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision." xsd:string [Term] id: Orphanet:293621 name: X-linked endothelial corneal dystrophy xref: ICD10:H18.5 xref: OMIM:300779 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98627 ! Posterior corneal dystrophy property_value: alternative:term "XECD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy (see this term) characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients." xsd:string [Term] id: Orphanet:293633 name: PYCR1-related DeBarsy syndrome xref: ICD10:Q87.8 xref: OMIM:614438 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: part_of Orphanet:2962 ! De Barsy syndrome property_value: alternative:term "PYCR1 deficiency" xsd:string property_value: alternative:term "Pyrroline-5-carboxylate reductase 1 deficiency" xsd:string [Term] id: Orphanet:293642 name: Blepharophimosis-intellectual deficit syndrome is_a: Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit is_a: Orphanet:102369 ! Rare intellectual deficit with developmental anomaly is_a: Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "BMRS" xsd:string [Term] id: Orphanet:293707 name: Blepharophimosis-intellectual deficit syndrome, MKB type xref: OMIM:300895 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:293642 ! Blepharophimosis-intellectual deficit syndrome property_value: alternative:term "Blepharophimosis-intellectual deficit syndrome, Maat-Kievit-Brunner type" xsd:string property_value: alternative:term "BMRS, Maat-Kievit-Brunner type" xsd:string property_value: alternative:term "BMRS, MKB type" xsd:string [Term] id: Orphanet:293725 name: Blepharophimosis-intellectual deficit syndrome, Verloes type xref: OMIM:604314 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:293642 ! Blepharophimosis-intellectual deficit syndrome property_value: alternative:term "Blepharophimosis-intellectual deficit syndrome type V" xsd:string property_value: alternative:term "BMRS type V" xsd:string property_value: alternative:term "BMRS, Verloes type" xsd:string [Term] id: Orphanet:293807 name: Ketamine-induced biliary dilatation is_a: Orphanet:377793 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! particular clinical situation in a disease or syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:306640 ! Rare intoxication due to medical products [Term] id: Orphanet:293812 name: Fixed pigmented erythema is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:293815 ! Toxic dermatosis [Term] id: Orphanet:293815 name: Toxic dermatosis is_a: Orphanet:89826 ! Rare skin disease [Term] id: Orphanet:293822 name: MITF-related melanoma and renal cell carcinoma predisposition syndrome xref: OMIM:614456 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome [Term] id: Orphanet:293825 name: Congenital dyserythropoietic anemia type IV xref: ICD10:D64.4 xref: OMIM:613673 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:85 ! Congenital dyserythropoietic anemia property_value: alternative:term "CDA due to KLF1 mutation" xsd:string property_value: alternative:term "CDA IV" xsd:string property_value: alternative:term "CDA type 4" xsd:string property_value: alternative:term "CDA type IV" xsd:string property_value: alternative:term "CDAN4" xsd:string property_value: alternative:term "Congenital dyserythropoietic anemia due to KLF1 mutation" xsd:string property_value: alternative:term "Congenital dyserythropoietic anemia type 4" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth." xsd:string [Term] id: Orphanet:293830 name: Constitutional dyserythropoietic anemia xref: ICD10:D64.4 is_a: Orphanet:108997 ! Rare anemia is_a: Orphanet:183651 ! Rare constitutional anemia relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy [Term] id: Orphanet:293838 name: Fatal infantile encephalopathy-pulmonary hypertension syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:275853 ! Syndrome with pulmonary hypertension as a major feature relationship: part_of Orphanet:309136 ! Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "Lipoic acid synthase deficiency" xsd:string [Term] id: Orphanet:293843 name: Craniofacial-ulnar-renal syndrome xref: ICD10:Q87.8 xref: OMIM:248340 xref: OMIM:257920 xref: OMIM:265050 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "3MC syndrome" xsd:string [Term] id: Orphanet:293848 name: Right temporal lobar atrophy xref: ICD10:G31.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:282 ! Frontotemporal dementia property_value: alternative:term "Frontotemporal dementia, right temporal atrophy variant" xsd:string property_value: alternative:term "RTLA" xsd:string property_value: alternative:term "rvFTD" xsd:string [Term] id: Orphanet:293864 name: Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome xref: ICD10:Q45.8 xref: OMIM:601346 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108969 ! Syndromic intestinal malformation relationship: part_of Orphanet:108973 ! Syndromic visceral malformation [Term] id: Orphanet:293867 name: v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B xref: ENSEMBL:ENSG00000204103 xref: GENATLAS:MAFB xref: HGNC:6408 xref: OMIM:608968 xref: UNIPROTKB/SWISSPROT:Q9Y5Q3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2774 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multicentric carpo-tarsal osteolysis with or without nephropathy property_value: alternative:term "Kreisler (mouse) maf-related leucine zipper homolog" xsd:string property_value: alternative:term "KRML" xsd:string property_value: alternative:term "V-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)" xsd:string property_value: symbol "MAFB" xsd:string [Term] id: Orphanet:293888 name: Familial isolated arrhythmogenic ventricular dysplasia, left dominant form xref: ICD10:I42.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:217656 ! Familial isolated arrhythmogenic right ventricular dysplasia property_value: alternative:term "Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form" xsd:string [Term] id: Orphanet:293899 name: Familial isolated arrhythmogenic ventricular dysplasia, biventricular form xref: ICD10:I42.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:217656 ! Familial isolated arrhythmogenic right ventricular dysplasia property_value: alternative:term "Familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form" xsd:string [Term] id: Orphanet:293910 name: Familial isolated arrhythmogenic ventricular dysplasia, right dominant form xref: ICD10:I42.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:217656 ! Familial isolated arrhythmogenic right ventricular dysplasia property_value: alternative:term "Familial isolated arrhythmogenic ventricular cardiomyopathy, classic form" xsd:string property_value: alternative:term "Familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form" xsd:string property_value: alternative:term "Familial isolated arrhythmogenic ventricular dysplasia, classic form" xsd:string [Term] id: Orphanet:293925 name: Lethal occipital encephalocele-skeletal dysplasia syndrome xref: ICD10:Q87.5 xref: OMIM:614416 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis [Term] id: Orphanet:293928 name: sodium channel, voltage gated, type VIII, alpha subunit xref: ENSEMBL:ENSG00000196876 xref: GENATLAS:SCN8A xref: HGNC:10596 xref: IUPHAR:583 xref: OMIM:600702 xref: REACTOME:Q9UQD0 xref: UNIPROTKB/SWISSPROT:Q9UQD0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1934 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early infantile epileptic encephalopathy property_value: alternative:term "CerIII" xsd:string property_value: alternative:term "MED" xsd:string property_value: alternative:term "NaCh6" xsd:string property_value: alternative:term "Nav1.6" xsd:string property_value: alternative:term "PN4" xsd:string property_value: alternative:term "Sodium channel, voltage gated, type VIII, alpha polypeptide" xsd:string property_value: symbol "SCN8A" xsd:string [Term] id: Orphanet:293936 name: EDICT syndrome xref: OMIM:614303 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98623 ! Syndromic keratoconus property_value: alternative:term "Autosomal dominant keratoconus with early-onset anterior polar cataracts" xsd:string property_value: alternative:term "Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome" xsd:string property_value: alternative:term "Familial keratoconus with cataract" xsd:string property_value: alternative:term "KTCNCT" xsd:string [Term] id: Orphanet:293939 name: Distal Xq28 microduplication syndrome xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:263783 ! Partial duplication of the long arm of chromosome X property_value: alternative:term "Distal dup(X)q(28)" xsd:string property_value: alternative:term "Distal trisomy Xq28" xsd:string [Term] id: Orphanet:293948 name: 1p21.3 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:180772 ! Rare disease with autism relationship: part_of Orphanet:261857 ! Partial deletion of the short arm of chromosome 1 property_value: alternative:term "Del(1)p(21.3)" xsd:string property_value: alternative:term "Monosomy 1p21.3" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term)." xsd:string [Term] id: Orphanet:293955 name: Childhood encephalopathy due to thiamine pyrophosphokinase deficiency xref: OMIM:614458 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:298644 ! Disorder of thiamin metabolism and transport [Term] id: Orphanet:293958 name: Hypertelorism-preauricular sinus-punctual pits-deafness syndrome xref: OMIM:614187 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "HPPD" xsd:string property_value: alternative:term "Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome" xsd:string [Term] id: Orphanet:293964 name: Hypoinsulinemic hypoglycemia and body hemihypertrophy xref: OMIM:240900 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:156638 ! Rare genetic endocrine disease relationship: part_of Orphanet:93460 ! Overgrowth syndrome relationship: part_of Orphanet:97978 ! Rare endocrine disease [Term] id: Orphanet:293967 name: Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181387 ! Syndrome with hypogonadotropic hypogonadism relationship: part_of Orphanet:269528 ! Syndrome with microcephaly as major feature relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome" xsd:string [Term] id: Orphanet:293978 name: Deficiency in anterior pituitary function-variable immunodeficiency syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:331244 ! Other immunodeficiency syndrome with predominantly antibody defects relationship: part_of Orphanet:95495 ! Disease associated with nonacquired combined pituitary hormone deficiency property_value: alternative:term "DAVID syndrome" xsd:string [Term] id: Orphanet:293987 name: Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:240371 ! Syndromic obesity property_value: alternative:term "Rapid-onset childhood obesity - hypothalamic dysfunction-hypoventilation-autonomic dysregulation - neural tumors" xsd:string property_value: alternative:term "ROHHAD" xsd:string property_value: alternative:term "ROHHADNET" xsd:string [Term] id: Orphanet:294 name: Fetal cytomegalovirus syndrome xref: ICD10:P35.1 xref: SNOMED CT:276701009 xref: UMLS:C0349499 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:166490 ! Infectious disease with epilepsy relationship: part_of Orphanet:232035 ! Infectious embryofetopathy property_value: alternative:term "CMV antenatal infection" xsd:string property_value: alternative:term "Cytomegalovirus antenatal infection" xsd:string [Term] id: Orphanet:2940 name: Porencephaly xref: ICD10:G93.0 xref: ICD10:Q04.6 xref: MEDDRA:10036172 xref: OMIM:175780 xref: OMIM:614483 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:166478 ! Cerebral malformation with epilepsy relationship: part_of Orphanet:269190 ! Encephaloclastic disorder [Term] id: Orphanet:294016 name: Microcephaly-capillary malformation syndrome xref: ICD10:Q87.8 xref: OMIM:614261 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:211240 ! Genetic vascular anomaly relationship: part_of Orphanet:211247 ! Capillary malformation relationship: part_of Orphanet:269528 ! Syndrome with microcephaly as major feature property_value: alternative:term "MIC-CAP syndrome" xsd:string property_value: alternative:term "MIC-CM syndrome" xsd:string property_value: alternative:term "Microcephaly-cutaneous capillary malformation syndrome" xsd:string [Term] id: Orphanet:294023 name: Neonatal inflammatory skin and bowel disease xref: OMIM:614328 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:104012 ! Rare inflammatory bowel disease relationship: part_of Orphanet:165655 ! Genetic intestinal disease relationship: part_of Orphanet:79359 ! Other epidermis disorder relationship: part_of Orphanet:79360 ! Other genetic epidermal disease [Term] id: Orphanet:294026 name: 2q31.1 microduplication syndrome xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262842 ! Partial duplication of the long arm of chromosome 2 property_value: alternative:term "Dup(2)(q31.1)" xsd:string property_value: alternative:term "Trisomy 2q31.1" xsd:string [Term] id: Orphanet:294049 name: Reunion island's Larsen syndrome xref: ICD10:Q74.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93441 ! Primary bone dysplasia with multiple joint dislocations [Term] id: Orphanet:294057 name: Rare nevus is_a: Orphanet:79386 ! Rare skin tumor or hamartoma [Term] id: Orphanet:294060 name: Multiple pterygium syndrome xref: ICD10:Q79.8 is_a: Orphanet:109007 ! Arthrogryposis syndrome [Term] id: Orphanet:2941 name: Porencephaly - cerebellar hypoplasia - internal malformations xref: OMIM:601322 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:269523 ! Syndrome with a cerebellar malformation as major feature property_value: alternative:term "Bonnemann-Meinecke syndrome" xsd:string [Term] id: Orphanet:2942 name: Postpoliomyelitic syndrome xref: ICD10:G14 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98506 ! Acquired motor neuron disease property_value: alternative:term "Postpolio sequelae" xsd:string property_value: alternative:term "Postpolio syndrome" xsd:string property_value: alternative:term "Postpoliomyelitis sequelae" xsd:string property_value: alternative:term "Postpoliomyelitis syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Post-poliomyelitis syndrome or Post-polio syndrome (PPS) is the commonly accepted term to describe the neuromuscular symptoms that may develop many years after acute paralytic poliomyelitis. PPS patients are diagnosed on the basis of new or increased muscle weakness or abnormal muscle fatigability (decreased endurance), with or without generalized fatigue, muscle atrophy, or pain following a neurological recovery and functional stability for at least 15 years after a confirmed history of paralytic poliomyelitis." xsd:string [Term] id: Orphanet:294415 name: Renal-hepatic-pancreatic dysplasia xref: OMIM:208540 xref: OMIM:615415 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:108973 ! Syndromic visceral malformation relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Ivemark II syndrome" xsd:string property_value: alternative:term "Renohepaticopancreatic dysplasia" xsd:string [Term] id: Orphanet:294422 name: Chronic intestinal failure is_a: Orphanet:377792 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical syndrome relationship: part_of Orphanet:117569 ! Rare intestinal disease property_value: alternative:term "CIF" xsd:string [Term] id: Orphanet:294456 name: transient receptor potential cation channel, subfamily V, member 3 xref: ENSEMBL:ENSG00000167723 xref: GENATLAS:TRPV3 xref: HGNC:18084 xref: IUPHAR:509 xref: OMIM:607066 xref: REACTOME:Q8NET8 xref: UNIPROTKB/SWISSPROT:Q8NET8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:659 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mutilating palmoplantar keratoderma with periorificial keratotic plaques property_value: alternative:term "VRL3" xsd:string property_value: symbol "TRPV3" xsd:string [Term] id: Orphanet:2946 name: Brachydactyly - long thumb xref: ICD10:Q87.2 xref: OMIM:112430 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease relationship: part_of Orphanet:228184 ! Heart-hand syndrome relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: alternative:term "Brachydactyly, long thumb type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981." xsd:string [Term] id: Orphanet:294681 name: minichromosome maintenance complex component 4 xref: ENSEMBL:ENSG00000104738 xref: GENATLAS:MCM4 xref: HGNC:6947 xref: OMIM:602638 xref: REACTOME:P33991 xref: UNIPROTKB/SWISSPROT:P33991 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:75391 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency with natural-killer cell deficiency property_value: alternative:term "CDC21" xsd:string property_value: alternative:term "CDC54" xsd:string property_value: alternative:term "hCdc21" xsd:string property_value: alternative:term "MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)" xsd:string property_value: alternative:term "MGC33310" xsd:string property_value: alternative:term "P1-Cdc21" xsd:string property_value: symbol "MCM4" xsd:string [Term] id: Orphanet:294689 name: sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A xref: ENSEMBL:ENSG00000075213 xref: GENATLAS:SEMA3A xref: HGNC:10723 xref: OMIM:603961 xref: REACTOME:Q14563 xref: UNIPROTKB/SWISSPROT:Q14563 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kallmann syndrome property_value: alternative:term "Coll-1" xsd:string property_value: alternative:term "Hsema-I" xsd:string property_value: alternative:term "Sema III" xsd:string property_value: alternative:term "SEMA1" xsd:string property_value: alternative:term "SEMAD" xsd:string property_value: alternative:term "SemD" xsd:string property_value: symbol "SEMA3A" xsd:string [Term] id: Orphanet:2947 name: Triphalangeal thumbs - brachyectrodactyly xref: ICD10:Q74.8 xref: MESH:C536564 xref: OMIM:190680 xref: UMLS:C1860804 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "Carnevale-Hernandez-del Castillo syndrome" xsd:string [Term] id: Orphanet:294925 name: Amelia xref: ICD10:Q73.0 is_a: Orphanet:93457 ! Non syndromic limb reduction defect [Term] id: Orphanet:294927 name: Intercalary limb defects is_a: Orphanet:93457 ! Non syndromic limb reduction defect property_value: alternative:term "Intercalary meromelia" xsd:string [Term] id: Orphanet:294929 name: Terminal limb defects is_a: Orphanet:93457 ! Non syndromic limb reduction defect property_value: alternative:term "Terminal meromelia" xsd:string [Term] id: Orphanet:294931 name: Adactyly of hand xref: ICD10:Q71.3 is_a: Orphanet:294929 ! Terminal limb defects property_value: alternative:term "Fingers absent" xsd:string [Term] id: Orphanet:294935 name: Split hand or/and split foot malformation xref: ICD10:Q71.6 xref: ICD10:Q72.7 is_a: Orphanet:294929 ! Terminal limb defects [Term] id: Orphanet:294937 name: Brachydactyly is_a: Orphanet:294929 ! Terminal limb defects [Term] id: Orphanet:294939 name: Preaxial polydactyly of fingers xref: ICD10:Q69.1 is_a: Orphanet:2913 ! Polydactyly property_value: alternative:term "Preaxial polydactyly of hand" xsd:string [Term] id: Orphanet:294942 name: Postaxial polydactyly of fingers xref: ICD10:Q69.0 is_a: Orphanet:2913 ! Polydactyly property_value: alternative:term "Postaxial polydactyly of hand" xsd:string [Term] id: Orphanet:294944 name: Congenital deformities of limbs is_a: Orphanet:109011 ! Nonsyndromic limb malformation [Term] id: Orphanet:294947 name: Congenital deformities of fingers xref: ICD10:Q68.1 is_a: Orphanet:294944 ! Congenital deformities of limbs [Term] id: Orphanet:294949 name: Joint formation defects is_a: Orphanet:109011 ! Nonsyndromic limb malformation is_a: Orphanet:364568 ! Dysostosis with limb anomaly as a major feature [Term] id: Orphanet:294951 name: Congenital joint dislocations is_a: Orphanet:109011 ! Nonsyndromic limb malformation [Term] id: Orphanet:294953 name: Limb overgrowth is_a: Orphanet:109011 ! Nonsyndromic limb malformation [Term] id: Orphanet:294955 name: Syndrome with limb reduction defects is_a: Orphanet:109009 ! Syndrome with limb malformations as a major feature is_a: Orphanet:364568 ! Dysostosis with limb anomaly as a major feature [Term] id: Orphanet:294957 name: Dysostosis with combined reduction defects of upper and lower limbs is_a: Orphanet:109009 ! Syndrome with limb malformations as a major feature is_a: Orphanet:364568 ! Dysostosis with limb anomaly as a major feature [Term] id: Orphanet:294959 name: Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy is_a: Orphanet:109009 ! Syndrome with limb malformations as a major feature is_a: Orphanet:364568 ! Dysostosis with limb anomaly as a major feature [Term] id: Orphanet:294963 name: Popliteal pterygium syndrome is_a: Orphanet:109007 ! Arthrogryposis syndrome is_a: Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations [Term] id: Orphanet:294965 name: Lethal congenital contracture syndrome xref: ICD10:Q68.8 is_a: Orphanet:109007 ! Arthrogryposis syndrome property_value: alternative:term "LCCS" xsd:string [Term] id: Orphanet:294967 name: Amelia of upper limb xref: ICD10:Q71.0 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294925 ! Amelia [Term] id: Orphanet:294969 name: Amelia of lower limb xref: ICD10:Q72.0 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294925 ! Amelia [Term] id: Orphanet:294971 name: Tetra-amelia xref: ICD10:Q73.0 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294925 ! Amelia property_value: alternative:term "Total amelia" xsd:string [Term] id: Orphanet:294973 name: Humeral agenesis/hypoplasia xref: ICD10:Q71.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:93457 ! Non syndromic limb reduction defect property_value: alternative:term "Humeral intercalary meromelia" xsd:string [Term] id: Orphanet:294975 name: Congenital absence of upper arm and forearm with hand present xref: ICD10:Q71.1 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294927 ! Intercalary limb defects property_value: alternative:term "Humero-radio-ulnar intercalary transverse meromelia" xsd:string property_value: alternative:term "Phocomelia" xsd:string [Term] id: Orphanet:294977 name: Congenital absence of thigh and lower leg with foot present xref: ICD10:Q72.1 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294927 ! Intercalary limb defects property_value: alternative:term "Femorotibiofibular intercalary transverse meromelia" xsd:string [Term] id: Orphanet:294979 name: Congenital absence of both forearm and hand xref: ICD10:Q71.2 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294929 ! Terminal limb defects property_value: alternative:term "Radio-ulnar terminal transverse meromelia" xsd:string [Term] id: Orphanet:294981 name: Congenital absence of both lower leg and foot xref: ICD10:Q72.2 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294929 ! Terminal limb defects property_value: alternative:term "Tibiofibular terminal transverse meromelia" xsd:string [Term] id: Orphanet:294983 name: Acheiria xref: ICD10:Q71.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294929 ! Terminal limb defects property_value: alternative:term "Absent hand" xsd:string [Term] id: Orphanet:294986 name: Apodia xref: ICD10:Q72.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294929 ! Terminal limb defects property_value: alternative:term "Absent foot" xsd:string [Term] id: Orphanet:294988 name: Congenital absence/hypoplasia of thumb xref: ICD10:Q71.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294931 ! Adactyly of hand property_value: alternative:term "Thumb hypodactyly" xsd:string property_value: alternative:term "Thumb oligodactyly" xsd:string [Term] id: Orphanet:294990 name: Congenital absence/hypoplasia of fingers excluding thumb xref: ICD10:Q71.3 xref: OMIM:102650 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294931 ! Adactyly of hand property_value: alternative:term "Digits 2-5 hypodactyly" xsd:string property_value: alternative:term "Digits 2-5 oligodactyly" xsd:string [Term] id: Orphanet:294992 name: Split hand xref: ICD10:Q71.6 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294935 ! Split hand or/and split foot malformation [Term] id: Orphanet:294994 name: Split foot xref: ICD10:Q72.7 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294935 ! Split hand or/and split foot malformation [Term] id: Orphanet:294996 name: Brachydactyly of fingers xref: ICD10:Q71.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294937 ! Brachydactyly property_value: alternative:term "Short fingers" xsd:string [Term] id: Orphanet:294998 name: Brachydactyly of toes xref: ICD10:Q72.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294937 ! Brachydactyly property_value: alternative:term "Short toes" xsd:string [Term] id: Orphanet:295 name: Fetal parvovirus syndrome xref: ICD10:P35.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:138059 ! Teratogenic Pierre Robin syndrome relationship: part_of Orphanet:232035 ! Infectious embryofetopathy property_value: alternative:term "Parvovirus antenatal infection" xsd:string [Term] id: Orphanet:2950 name: Triphalangeal thumb - polysyndactyly syndrome xref: ICD10:Q74.8 xref: MESH:C536563 xref: OMIM:174500 xref: UMLS:C1969369 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "TPT-PS syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly." xsd:string [Term] id: Orphanet:295000 name: Constriction rings syndrome xref: ICD10:Q79.8 xref: OMIM:217100 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:1034 ! Amniotic bands [Term] id: Orphanet:295002 name: Hyperphalangy xref: ICD10:Q74.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:93458 ! Non syndromic polydactyly, syndactyly and/or hyperphalangy property_value: alternative:term "Supernumerary phalanges" xsd:string property_value: alternative:term "Supernumerary phalanx" xsd:string [Term] id: Orphanet:295004 name: Central polydactyly of fingers xref: ICD10:Q69.0 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:2913 ! Polydactyly property_value: alternative:term "Central polydactyly of hand" xsd:string property_value: alternative:term "Mesoaxial polydactyly of fingers" xsd:string property_value: alternative:term "Mirror hand" xsd:string [Term] id: Orphanet:295006 name: Preaxial polydactyly of toes xref: ICD10:Q69.2 xref: OMIM:601759 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:2913 ! Polydactyly property_value: alternative:term "Bifid great toes" xsd:string property_value: alternative:term "Bifid halluces" xsd:string property_value: alternative:term "Bifid hallux" xsd:string property_value: alternative:term "Preaxial polydactyly of foot" xsd:string [Term] id: Orphanet:295008 name: Postaxial polydactyly of toes xref: ICD10:Q69.2 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:2913 ! Polydactyly property_value: alternative:term "Postaxial polydactyly of foot" xsd:string [Term] id: Orphanet:295010 name: Central polydactyly of toes xref: ICD10:Q69.2 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:2913 ! Polydactyly property_value: alternative:term "Central polydactyly of foot" xsd:string property_value: alternative:term "Mesoaxial polydactyly of toes" xsd:string property_value: alternative:term "Mirror foot" xsd:string [Term] id: Orphanet:295012 name: Syndactyly type 6 xref: ICD10:Q70 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:90025 ! Syndactyly property_value: alternative:term "Mitten hand" xsd:string property_value: alternative:term "Syndactyly, mitten type" xsd:string property_value: alternative:term "Unilateral syndactyly of digits 2-5" xsd:string [Term] id: Orphanet:295014 name: Familial isolated clinodactyly of fingers xref: ICD10:Q68.1 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294947 ! Congenital deformities of fingers [Term] id: Orphanet:295016 name: Camptodactyly of fingers xref: ICD10:Q68.1 xref: OMIM:114200 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294947 ! Congenital deformities of fingers [Term] id: Orphanet:295018 name: Congenital pseudoarthrosis of the tibia xref: ICD10:Q74.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:157808 ! Congenital pseudoarthrosis of the limbs [Term] id: Orphanet:295020 name: Congenital pseudoarthrosis of the femur xref: ICD10:Q74.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:157808 ! Congenital pseudoarthrosis of the limbs [Term] id: Orphanet:295022 name: Congenital pseudoarthrosis of the fibula xref: ICD10:Q74.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:157808 ! Congenital pseudoarthrosis of the limbs [Term] id: Orphanet:295024 name: Congenital pseudoarthrosis of the radius xref: ICD10:Q74.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:157808 ! Congenital pseudoarthrosis of the limbs [Term] id: Orphanet:295026 name: Congenital pseudoarthrosis of the ulna xref: ICD10:Q74.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:157808 ! Congenital pseudoarthrosis of the limbs [Term] id: Orphanet:295028 name: Tibio-fibular synostosis xref: ICD10:Q74.2 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294949 ! Joint formation defects property_value: alternative:term "Tibio-fibular fusion" xsd:string [Term] id: Orphanet:295030 name: Congenital shoulder dislocation xref: ICD10:Q68.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294951 ! Congenital joint dislocations [Term] id: Orphanet:295032 name: Congenital elbow dislocation xref: ICD10:Q68.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294951 ! Congenital joint dislocations property_value: alternative:term "Congenital radial head dislocation" xsd:string [Term] id: Orphanet:295034 name: Congenital knee dislocation xref: ICD10:Q68.2 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294951 ! Congenital joint dislocations [Term] id: Orphanet:295036 name: Congenital patella dislocation xref: ICD10:Q74.1 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294951 ! Congenital joint dislocations [Term] id: Orphanet:295038 name: Patella aplasia/hypoplasia, unilateral xref: ICD10:Q74.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:86789 ! Patella aplasia/hypoplasia [Term] id: Orphanet:295041 name: Patella aplasia/hypoplasia, bilateral xref: ICD10:Q74.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:86789 ! Patella aplasia/hypoplasia [Term] id: Orphanet:295044 name: Macrodactyly of fingers xref: ICD10:Q74.0 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294953 ! Limb overgrowth property_value: alternative:term "Macrodactyly of hand" xsd:string [Term] id: Orphanet:295047 name: Macrodactyly of toes xref: ICD10:Q74.2 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294953 ! Limb overgrowth property_value: alternative:term "Macrodactyly of foot" xsd:string [Term] id: Orphanet:295049 name: Upper limb hypertrophy xref: ICD10:Q74.0 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294953 ! Limb overgrowth [Term] id: Orphanet:295051 name: Lower limb hypertrophy xref: ICD10:Q74.2 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294953 ! Limb overgrowth [Term] id: Orphanet:295053 name: Amelia of upper limb, unilateral xref: ICD10:Q71.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294967 ! Amelia of upper limb [Term] id: Orphanet:295055 name: Amelia of upper limb, bilateral xref: ICD10:Q71.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294967 ! Amelia of upper limb [Term] id: Orphanet:295057 name: Amelia of lower limb, unilateral xref: ICD10:Q72.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294969 ! Amelia of lower limb [Term] id: Orphanet:295059 name: Amelia of lower limb, bilateral xref: ICD10:Q72.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294969 ! Amelia of lower limb [Term] id: Orphanet:295061 name: Humeral agenesis/hypoplasia, unilateral xref: ICD10:Q71.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294973 ! Humeral agenesis/hypoplasia property_value: alternative:term "Humeral intercalary meromelia, unilateral" xsd:string [Term] id: Orphanet:295063 name: Humeral agenesis/hypoplasia, bilateral xref: ICD10:Q71.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294973 ! Humeral agenesis/hypoplasia property_value: alternative:term "Humeral intercalary meromelia, bilateral" xsd:string [Term] id: Orphanet:295065 name: Femoral agenesis/hypoplasia, unilateral xref: ICD10:Q72.4 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:1987 ! Femoral agenesis/hypoplasia property_value: alternative:term "Femoral intercalary meromelia, unilateral" xsd:string [Term] id: Orphanet:295067 name: Femoral agenesis/hypoplasia, bilateral xref: ICD10:Q72.4 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:1987 ! Femoral agenesis/hypoplasia property_value: alternative:term "Femoral intercalary meromelia, bilateral" xsd:string [Term] id: Orphanet:295069 name: Radial hemimelia, unilateral xref: ICD10:Q71.4 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93321 ! Radial hemimelia property_value: alternative:term "Radial longitidinal meromelia, unilateral" xsd:string [Term] id: Orphanet:295071 name: Radial hemimelia, bilateral xref: ICD10:Q71.4 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93321 ! Radial hemimelia property_value: alternative:term "Radial longitidinal meromelia, bilateral" xsd:string [Term] id: Orphanet:295073 name: Ulnar hemimelia, bilateral xref: ICD10:Q71.5 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93320 ! Ulnar hemimelia property_value: alternative:term "Ulnar longitudinal meromelia, bilateral" xsd:string [Term] id: Orphanet:295075 name: Ulnar hemimelia, unilateral xref: ICD10:Q71.5 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93320 ! Ulnar hemimelia property_value: alternative:term "Ulnar longitudinal meromelia, unilateral" xsd:string [Term] id: Orphanet:295077 name: Tibial hemimelia, unilateral xref: ICD10:Q72.5 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93322 ! Tibial hemimelia property_value: alternative:term "Tibial longitudinal meomelia, unilateral" xsd:string [Term] id: Orphanet:295079 name: Tibial hemimelia, bilateral xref: ICD10:Q72.5 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93322 ! Tibial hemimelia property_value: alternative:term "Tibial longitudinal meomelia, bilateral" xsd:string [Term] id: Orphanet:295081 name: Fibular hemimelia, unilateral xref: ICD10:Q72.6 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93323 ! Fibular hemimelia property_value: alternative:term "Fibular longitudinal meomelia, unilateral" xsd:string [Term] id: Orphanet:295083 name: Fibular hemimelia, bilateral xref: ICD10:Q72.6 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93323 ! Fibular hemimelia property_value: alternative:term "Fibular longitudinal meomelia, bilateral" xsd:string [Term] id: Orphanet:295085 name: Congenital absence of upper arm and forearm with hand present, unilateral xref: ICD10:Q71.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294975 ! Congenital absence of upper arm and forearm with hand present property_value: alternative:term "Humero-radio-ulnar intercalary transverse meromelia, unilateral" xsd:string [Term] id: Orphanet:295087 name: Congenital absence of upper arm and forearm with hand present, bilateral xref: ICD10:Q71.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294975 ! Congenital absence of upper arm and forearm with hand present property_value: alternative:term "Humero-radio-ulnar intercalary transverse meromelia, bilateral" xsd:string [Term] id: Orphanet:295089 name: Congenital absence of thigh and lower leg with foot present, unilateral xref: ICD10:Q72.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294977 ! Congenital absence of thigh and lower leg with foot present property_value: alternative:term "Femorotibiofibular intercalary transverse meromelia, unilateral" xsd:string [Term] id: Orphanet:295091 name: Congenital absence of thigh and lower leg with foot present, bilateral xref: ICD10:Q72.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294977 ! Congenital absence of thigh and lower leg with foot present property_value: alternative:term "Femorotibiofibular intercalary transverse meromelia, bilateral" xsd:string [Term] id: Orphanet:295093 name: Congenital absence of both forearm and hand, unilateral xref: ICD10:Q71.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294979 ! Congenital absence of both forearm and hand property_value: alternative:term "Radio-ulnar terminal transverse meromelia, unilateral" xsd:string [Term] id: Orphanet:295095 name: Congenital absence of both forearm and hand, bilateral xref: ICD10:Q71.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294979 ! Congenital absence of both forearm and hand property_value: alternative:term "Radio-ulnar terminal transverse meromelia, bilateral" xsd:string [Term] id: Orphanet:295097 name: Congenital absence of both lower leg and foot, unilateral xref: ICD10:Q72.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294981 ! Congenital absence of both lower leg and foot property_value: alternative:term "Tibiofibular terminal transverse meromelia, unilateral" xsd:string [Term] id: Orphanet:295099 name: Congenital absence of both lower leg and foot, bilateral xref: ICD10:Q72.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294981 ! Congenital absence of both lower leg and foot property_value: alternative:term "Tibiofibular terminal transverse meromelia, bilateral" xsd:string [Term] id: Orphanet:2951 name: Absent thumb - short stature - immunodeficiency xref: ICD10:D82.8 xref: OMIM:274190 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency [Term] id: Orphanet:295101 name: Acheiria, unilateral xref: ICD10:Q71.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294983 ! Acheiria property_value: alternative:term "Absent hand, unilateral" xsd:string [Term] id: Orphanet:295103 name: Acheiria, bilateral xref: ICD10:Q71.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294983 ! Acheiria property_value: alternative:term "Absent hand, bilateral" xsd:string [Term] id: Orphanet:295105 name: Apodia, unilateral xref: ICD10:Q72.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294986 ! Apodia property_value: alternative:term "Absent foot, unilateral" xsd:string [Term] id: Orphanet:295107 name: Apodia, bilateral xref: ICD10:Q72.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294986 ! Apodia property_value: alternative:term "Absent foot, bilateral" xsd:string [Term] id: Orphanet:295110 name: Congenital absence/hypoplasia of thumb, unilateral xref: ICD10:Q71.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294988 ! Congenital absence/hypoplasia of thumb property_value: alternative:term "Thumb hypodactyly, unilateral" xsd:string property_value: alternative:term "Thumb oligodactyly, unilateral" xsd:string [Term] id: Orphanet:295112 name: Congenital absence/hypoplasia of thumb, bilateral xref: ICD10:Q71.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294988 ! Congenital absence/hypoplasia of thumb property_value: alternative:term "Thumb hypodactyly, bilateral" xsd:string property_value: alternative:term "Thumb oligodactyly, bilateral" xsd:string [Term] id: Orphanet:295114 name: Congenital absence/hypoplasia of fingers excluding thumb, bilateral xref: ICD10:Q71.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294990 ! Congenital absence/hypoplasia of fingers excluding thumb property_value: alternative:term "Digits 2-5 hypodactyly, biilateral" xsd:string property_value: alternative:term "Digits 2-5 oligodactyly, biilateral" xsd:string [Term] id: Orphanet:295116 name: Adactyly of foot, unilateral xref: ICD10:Q72.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:931 ! Acheiropodia property_value: alternative:term "Toes absent, unilateral" xsd:string [Term] id: Orphanet:295118 name: Adactyly of foot, bilateral xref: ICD10:Q72.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:931 ! Acheiropodia property_value: alternative:term "Toes absent, bilateral" xsd:string [Term] id: Orphanet:295120 name: Split hand, unilateral xref: ICD10:Q71.6 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294992 ! Split hand [Term] id: Orphanet:295122 name: Split hand, bilateral xref: ICD10:Q71.6 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294992 ! Split hand [Term] id: Orphanet:295124 name: Split foot, unilateral xref: ICD10:Q72.7 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294994 ! Split foot [Term] id: Orphanet:295126 name: Split foot, bilateral xref: ICD10:Q72.7 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294994 ! Split foot [Term] id: Orphanet:295128 name: Brachydactyly of fingers, unilateral xref: ICD10:Q71.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294996 ! Brachydactyly of fingers property_value: alternative:term "Short fingers, unilateral" xsd:string [Term] id: Orphanet:295130 name: Brachydactyly of fingers, bilateral xref: ICD10:Q71.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294996 ! Brachydactyly of fingers property_value: alternative:term "Short fingers, bilateral" xsd:string [Term] id: Orphanet:295132 name: Brachydactyly of toes, unilateral xref: ICD10:Q72.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294998 ! Brachydactyly of toes property_value: alternative:term "Short toes, unilateral" xsd:string [Term] id: Orphanet:295134 name: Brachydactyly of toes, bilateral xref: ICD10:Q72.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:294998 ! Brachydactyly of toes property_value: alternative:term "Short toes, bilateral" xsd:string [Term] id: Orphanet:295136 name: Symbrachydactyly of hand and foot, unilateral xref: ICD10:Q73.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:1570 ! Symbrachydactyly of hands and feet [Term] id: Orphanet:295138 name: Symbrachydactyly of hand and foot, bilateral xref: ICD10:Q73.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:1570 ! Symbrachydactyly of hands and feet [Term] id: Orphanet:295140 name: Hyperphalangy, unilateral xref: ICD10:Q74.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:295002 ! Hyperphalangy property_value: alternative:term "Hyperphalangy in digits 2-5" xsd:string property_value: alternative:term "Supernumerary phalanges, unilateral" xsd:string property_value: alternative:term "Supernumerary phalanx, unilateral" xsd:string [Term] id: Orphanet:295142 name: Hyperphalangy, bilateral xref: ICD10:Q74.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:295002 ! Hyperphalangy property_value: alternative:term "Supernumerary phalanges, bilateral" xsd:string property_value: alternative:term "Supernumerary phalanx, bilateral" xsd:string [Term] id: Orphanet:295144 name: Polydactyly of the thumb, unilateral xref: ICD10:Q69.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93339 ! Polydactyly of a biphalangeal thumb property_value: alternative:term "Preaxial polydactyly type 1, unilateral" xsd:string [Term] id: Orphanet:295146 name: Polydactyly of the thumb, bilateral xref: ICD10:Q69.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93339 ! Polydactyly of a biphalangeal thumb property_value: alternative:term "Preaxial polydactyly type 1, bilateral" xsd:string [Term] id: Orphanet:295148 name: Polydactyly of a triphalangeal thumb, unilateral xref: ICD10:Q69.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93336 ! Polydactyly of a triphalangeal thumb property_value: alternative:term "Preaxial polydactyly type 2, unilateral" xsd:string property_value: alternative:term "Unilateral PPD2" xsd:string [Term] id: Orphanet:295150 name: Polydactyly of a triphalangeal thumb, bilateral xref: ICD10:Q69.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93336 ! Polydactyly of a triphalangeal thumb property_value: alternative:term "Bilateral PPD2" xsd:string property_value: alternative:term "Preaxial polydactyly type 2, bilateral" xsd:string [Term] id: Orphanet:295152 name: Polydactyly of an index finger, unilateral xref: ICD10:Q69.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93337 ! Polydactyly of an index finger property_value: alternative:term "Preaxial polydactyly type 3, unilateral" xsd:string [Term] id: Orphanet:295154 name: Polydactyly of an index finger, bilateral xref: ICD10:Q69.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93337 ! Polydactyly of an index finger property_value: alternative:term "Preaxial polydactyly type 3, bilateral" xsd:string [Term] id: Orphanet:295159 name: Polysyndactyly, unilateral xref: ICD10:Q70.4 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93338 ! Polysyndactyly property_value: alternative:term "Preaxial polydactyly type 4, unilateral" xsd:string [Term] id: Orphanet:295161 name: Polysyndactyly, bilateral xref: ICD10:Q70.4 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93338 ! Polysyndactyly property_value: alternative:term "Preaxial polydactyly type 4, bilateral" xsd:string [Term] id: Orphanet:295163 name: Postaxial polydactyly type A, unilateral xref: ICD10:Q69.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93334 ! Postaxial polydactyly type A [Term] id: Orphanet:295165 name: Postaxial polydactyly type A, bilateral xref: ICD10:Q69.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93334 ! Postaxial polydactyly type A [Term] id: Orphanet:295167 name: Postaxial polydactyly type B, unilateral xref: ICD10:Q69.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93335 ! Postaxial polydactyly type B [Term] id: Orphanet:295169 name: Postaxial polydactyly type B, bilateral xref: ICD10:Q69.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93335 ! Postaxial polydactyly type B [Term] id: Orphanet:295171 name: Central polydactyly of fingers, unilateral xref: ICD10:Q69.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:295004 ! Central polydactyly of fingers property_value: alternative:term "Mesoaxial polydactyly of fingers, unilateral" xsd:string property_value: alternative:term "Mirror hand, unilateral" xsd:string [Term] id: Orphanet:295173 name: Central polydactyly of fingers, bilateral xref: ICD10:Q69.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:295004 ! Central polydactyly of fingers property_value: alternative:term "Mesoaxial polydactyly of fingers, bilateral" xsd:string property_value: alternative:term "Mirror hand, bilateral" xsd:string [Term] id: Orphanet:295175 name: Preaxial polydactyly of toes, unilateral xref: ICD10:Q69.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:295006 ! Preaxial polydactyly of toes property_value: alternative:term "Bifid great toes, unilateral" xsd:string property_value: alternative:term "Bifid hallux, unilateral" xsd:string [Term] id: Orphanet:295177 name: Preaxial polydactyly of toes, bilateral xref: ICD10:Q69.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:295006 ! Preaxial polydactyly of toes property_value: alternative:term "Bifid great toes, bilateral" xsd:string property_value: alternative:term "Bifid halluces, bilateral" xsd:string property_value: alternative:term "Bifid hallux, bilateral" xsd:string [Term] id: Orphanet:295179 name: Postaxial polydactyly of toes, unilateral xref: ICD10:Q69.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:295008 ! Postaxial polydactyly of toes [Term] id: Orphanet:295181 name: Postaxial polydactyly of toes, bilateral xref: ICD10:Q69.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:295008 ! Postaxial polydactyly of toes [Term] id: Orphanet:295183 name: Central polydactyly of toes, unilateral xref: ICD10:Q69.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:295010 ! Central polydactyly of toes property_value: alternative:term "Mesoaxial polydactyly of toes, unilateral" xsd:string property_value: alternative:term "Mirror foot, unilateral" xsd:string [Term] id: Orphanet:295185 name: Central polydactyly of toes, bilateral xref: ICD10:Q69.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:295010 ! Central polydactyly of toes property_value: alternative:term "Mesoaxial polydactyly of toes, bilateral" xsd:string property_value: alternative:term "Mirror foot, bilateral" xsd:string [Term] id: Orphanet:295187 name: Zygodactyly type 1 xref: ICD10:Q70.3 xref: OMIM:609815 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93402 ! Syndactyly type 1 property_value: alternative:term "SD1, Weidenreich type" xsd:string property_value: alternative:term "SD1a" xsd:string property_value: alternative:term "Syndactyly type 1, Weidenreich type" xsd:string property_value: alternative:term "Syndactyly type 1a" xsd:string property_value: alternative:term "Zygodactyly, Weidenreich type" xsd:string [Term] id: Orphanet:295189 name: Zygodactyly type 2 xref: ICD10:Q70 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93402 ! Syndactyly type 1 property_value: alternative:term "SD1, Lueken type" xsd:string property_value: alternative:term "SD1b" xsd:string property_value: alternative:term "Syndactyly type 1, Lueken type" xsd:string property_value: alternative:term "Syndactyly type 1b" xsd:string property_value: alternative:term "Zygodactyly, Lueken type" xsd:string [Term] id: Orphanet:295191 name: Zygodactyly type 3 xref: ICD10:Q70 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93402 ! Syndactyly type 1 property_value: alternative:term "SD1, Montagu type" xsd:string property_value: alternative:term "SD1c" xsd:string property_value: alternative:term "Syndactyly type 1, Montagu type" xsd:string property_value: alternative:term "Syndactyly type 1c" xsd:string property_value: alternative:term "Zygodactyly, Montagu type" xsd:string [Term] id: Orphanet:295193 name: Zygodactyly type 4 xref: ICD10:Q70.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93402 ! Syndactyly type 1 property_value: alternative:term "SD1, Castilla type" xsd:string property_value: alternative:term "SD1d" xsd:string property_value: alternative:term "Syndactyly type 1, Castilla type" xsd:string property_value: alternative:term "Syndactyly type 1d" xsd:string property_value: alternative:term "Zygodactyly, Castilla type" xsd:string [Term] id: Orphanet:295195 name: Synpolydactyly type 1 xref: ICD10:Q70.9 xref: OMIM:186000 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93403 ! Syndactyly type 2 property_value: alternative:term "SD2, Vordingborg type" xsd:string property_value: alternative:term "SD2a" xsd:string property_value: alternative:term "SPD, Vordingborg type" xsd:string property_value: alternative:term "SPD1" xsd:string property_value: alternative:term "Synpolydactyly, Vordingborg type" xsd:string [Term] id: Orphanet:295197 name: Synpolydactyly type 2 xref: ICD10:Q70 xref: OMIM:608180 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93403 ! Syndactyly type 2 property_value: alternative:term "SD2, Debeer type" xsd:string property_value: alternative:term "SD2b" xsd:string property_value: alternative:term "SPD, Debeer type" xsd:string property_value: alternative:term "SPD2" xsd:string property_value: alternative:term "Synpolydactyly, Debeer type" xsd:string [Term] id: Orphanet:295199 name: Synpolydactyly type 3 xref: ICD10:Q70 xref: OMIM:610234 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93403 ! Syndactyly type 2 property_value: alternative:term "SD2, Malik type" xsd:string property_value: alternative:term "SD2c" xsd:string property_value: alternative:term "SPD, Malik type" xsd:string property_value: alternative:term "SPD3" xsd:string property_value: alternative:term "Synpolydactyly, Malik type" xsd:string [Term] id: Orphanet:2952 name: Adducted thumbs - arthrogryposis, Christian type xref: ICD10:Q74.8 xref: OMIM:201550 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:1037 ! Arthrogryposis multiplex congenita relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations [Term] id: Orphanet:295201 name: Congenital vertical talus, unilateral xref: ICD10:Q66.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:178382 ! Congenital vertical talus [Term] id: Orphanet:295203 name: Congenital vertical talus, bilateral xref: ICD10:Q66.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:178382 ! Congenital vertical talus [Term] id: Orphanet:295205 name: Humero-radio-ulnar synostosis, unilateral xref: ICD10:Q74.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3266 ! Humero-radio-ulnar synostosis property_value: alternative:term "Humero-radio-ulnar fusion, unilateral" xsd:string [Term] id: Orphanet:295207 name: Humero-radio-ulnar synostosis, bilateral xref: ICD10:Q74.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3266 ! Humero-radio-ulnar synostosis property_value: alternative:term "Humero-radio-ulnar fusion, bilateral" xsd:string [Term] id: Orphanet:295209 name: Humero-radial synostosis, unilateral xref: ICD10:Q74.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3265 ! Humero-radial synostosis property_value: alternative:term "Humero-radial fusion, unilateral" xsd:string [Term] id: Orphanet:295211 name: Humero-radial synostosis, bilateral xref: ICD10:Q74.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3265 ! Humero-radial synostosis property_value: alternative:term "Humero-radial fusion, bilateral" xsd:string [Term] id: Orphanet:295213 name: Humero-ulnar synostosis, unilateral xref: ICD10:Q74.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:94056 ! Humero-ulnar synostosis property_value: alternative:term "Humero-ulnar fusion, unilateral" xsd:string [Term] id: Orphanet:295215 name: Humero-ulnar synostosis, bilateral xref: ICD10:Q74.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:94056 ! Humero-ulnar synostosis property_value: alternative:term "Humero-ulnar fusion, bilateral" xsd:string [Term] id: Orphanet:295217 name: Radio-ulnar synostosis, unilateral xref: ICD10:Q74.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3269 ! Proximal radioulnar synostosis property_value: alternative:term "Radio-ulnar fusion, unilateral" xsd:string [Term] id: Orphanet:295219 name: Radio-ulnar synostosis, bilateral xref: ICD10:Q74.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3269 ! Proximal radioulnar synostosis property_value: alternative:term "Radio-ulnar fusion, bilateral" xsd:string [Term] id: Orphanet:295221 name: Madelung deformity, unilateral xref: ICD10:Q74.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:35688 ! Madelung deformity [Term] id: Orphanet:295223 name: Madelung deformity, bilateral xref: ICD10:Q74.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:35688 ! Madelung deformity [Term] id: Orphanet:295225 name: Congenital elbow dislocation, unilateral xref: ICD10:Q68.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:295032 ! Congenital elbow dislocation [Term] id: Orphanet:295227 name: Congenital elbow dislocation, bilateral xref: ICD10:Q68.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:295032 ! Congenital elbow dislocation [Term] id: Orphanet:295229 name: Congenital genu recurvatum xref: ICD10:Q68.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:295034 ! Congenital knee dislocation [Term] id: Orphanet:295232 name: Congenital genu flexum xref: ICD10:Q68.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:295034 ! Congenital knee dislocation [Term] id: Orphanet:295234 name: Congenital patella dislocation, unilateral xref: ICD10:Q74.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:295036 ! Congenital patella dislocation [Term] id: Orphanet:295237 name: Congenital patella dislocation, bilateral xref: ICD10:Q74.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:295036 ! Congenital patella dislocation [Term] id: Orphanet:295239 name: Macrodactyly of fingers, unilateral xref: ICD10:Q74.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:295044 ! Macrodactyly of fingers [Term] id: Orphanet:295241 name: Macrodactyly of fingers, bilateral xref: ICD10:Q74.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:295044 ! Macrodactyly of fingers [Term] id: Orphanet:295243 name: Macrodactyly of toes, unilateral xref: ICD10:Q74.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:295047 ! Macrodactyly of toes [Term] id: Orphanet:295245 name: Macrodactyly of toes, bilateral xref: ICD10:Q74.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:295047 ! Macrodactyly of toes [Term] id: Orphanet:295279 name: centrosomal protein 135kDa xref: ENSEMBL:ENSG00000174799 xref: GENATLAS:CEP135 xref: HGNC:29086 xref: OMIM:611423 xref: REACTOME:Q66GS9 xref: UNIPROTKB/SWISSPROT:Q66GS9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2512 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive primary microcephaly property_value: alternative:term "Centrosomal protein 4" xsd:string property_value: alternative:term "CEP4" xsd:string property_value: alternative:term "FLJ13621" xsd:string property_value: alternative:term "KIAA0635" xsd:string property_value: symbol "CEP135" xsd:string [Term] id: Orphanet:2953 name: Ehlers-Danlos syndrome, musculocontractural type xref: ICD10:Q79.6 xref: OMIM:601776 xref: OMIM:615539 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309450 ! Disorder of O-xylosylglycan synthesis relationship: part_of Orphanet:371047 ! Congenital disorder of glycosylation with neurological involvement relationship: part_of Orphanet:371183 ! Congenital disorder of glycosylation with cardiac malformation as a major feature relationship: part_of Orphanet:371200 ! Congenital disorder of glycosylation with skin involvement relationship: part_of Orphanet:371207 ! Congenital disorder of glycosylation with nephropathy as a major feature relationship: part_of Orphanet:97120 ! Distal arthrogryposis relationship: part_of Orphanet:98249 ! Ehlers-Danlos syndrome property_value: alternative:term "Adducted thumb - clubfoot syndrome" xsd:string property_value: alternative:term "Adducted thumbs - arthrogryposis, Dundar type" xsd:string property_value: alternative:term "ATCS" xsd:string property_value: alternative:term "CHST14-related EDS" xsd:string property_value: alternative:term "CHST14-related Ehlers-Danlos syndrome" xsd:string property_value: alternative:term "D4ST1-deficient EDS" xsd:string property_value: alternative:term "D4ST1-deficient Ehlers-Danlos syndrome" xsd:string property_value: alternative:term "EDS, arthrogryposic type" xsd:string property_value: alternative:term "EDS, Kosho type" xsd:string property_value: alternative:term "EDS, musculocontractural type" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome, arthrogryposic type" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome, Kosho type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Ehlers-Danlos syndrome, musculocontractural type (MCEDS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, hemorrhagic diathesis and multisystem fragility-related manifestations." xsd:string [Term] id: Orphanet:2956 name: Prata-Liberal-Goncalves syndrome xref: MESH:C538180 xref: MESH:C538277 xref: UMLS:C2931761 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: alternative:term "Acrodysplasia scoliosis" xsd:string property_value: alternative:term "Brachydactyly - scoliosis - carpal fusion" xsd:string [Term] id: Orphanet:2957 name: Guttmacher syndrome xref: ICD10:Q87.2 xref: MESH:C538278 xref: OMIM:176305 xref: UMLS:C1867801 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "Preaxial deficiency - postaxial polydactyly - hypospadias" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias." xsd:string [Term] id: Orphanet:2958 name: Intellectual deficit, X-linked - dysmorphism - cerebral atrophy xref: OMIM:309610 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Prieto-Badia-Mulas syndrome" xsd:string [Term] id: Orphanet:2959 name: Progeria - short stature - pigmented nevi xref: MESH:C536422 xref: OMIM:176690 xref: SNOMED CT:399947002 xref: UMLS:C1261128 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:139033 ! Progeroid syndrome relationship: part_of Orphanet:363245 ! Genetic progeroid syndrome relationship: part_of Orphanet:79389 ! Premature aging property_value: alternative:term "Mulvihill-Smith syndrome" xsd:string [Term] id: Orphanet:296 name: Enchondromatosis xref: ICD10:Q78.4 xref: MEDDRA:10014642 xref: MESH:D004687 xref: OMIM:166000 xref: SNOMED CT:268274005 xref: UMLS:C0014084 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:183527 ! Genetic bone tumor relationship: part_of Orphanet:68411 ! Rare bone tumor relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components relationship: part_of Orphanet:93460 ! Overgrowth syndrome relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis property_value: alternative:term "Ollier disease" xsd:string [Term] id: Orphanet:2962 name: De Barsy syndrome xref: ICD10:Q87.8 xref: MESH:C535990 xref: OMIM:219150 xref: OMIM:614438 xref: SNOMED CT:238826008 xref: SNOMED CT:59252009 xref: UMLS:C0268354 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:209 ! Cutis laxa relationship: part_of Orphanet:289866 ! Disorder of proline metabolism relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79389 ! Premature aging relationship: part_of Orphanet:98628 ! Syndromic corneal dystrophy relationship: part_of Orphanet:98644 ! Cataract associated with a metabolic disease relationship: part_of Orphanet:98712 ! Metabolic disease with cataract property_value: alternative:term "Cutis laxa - corneal clouding - intellectual deficit" xsd:string property_value: alternative:term "Progeroid syndrome, De Barsy type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract." xsd:string [Term] id: Orphanet:2963 name: Progeroid syndrome, Petty type xref: ICD10:E34.8 xref: OMIM:612289 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:79389 ! Premature aging property_value: alternative:term "Petty-Laxova-Wiedemann syndrome" xsd:string [Term] id: Orphanet:2964 name: Autosomal dominant prognathism xref: ICD10:K07.1 xref: OMIM:176700 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit [Term] id: Orphanet:2965 name: Prolactinoma xref: ICD10:D35.2 xref: ICD10:E22.1 xref: MEDDRA:10036832 xref: MESH:D015175 xref: SNOMED CT:134209002 xref: SNOMED CT:34337008 xref: UMLS:C0033375 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:314753 ! Functioning pituitary adenoma property_value: alternative:term "Lactotroph adenoma" xsd:string property_value: alternative:term "Pituitary lactotrophic adenoma" xsd:string property_value: alternative:term "PRL-secreting pituitary adenoma" xsd:string property_value: alternative:term "Prolactin-secreting pituitary adenoma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Prolactinoma is a solitary benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men." xsd:string [Term] id: Orphanet:2966 name: Properdin deficiency xref: ICD10:D84.1 xref: MESH:C537241 xref: OMIM:312060 xref: SNOMED CT:81166004 xref: UMLS:C0398762 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101992 ! Immunodeficiency due to a complement cascade protein anomaly [Term] id: Orphanet:296684 name: DnaJ (Hsp40) homolog, subfamily B, member 6 xref: ENSEMBL:ENSG00000105993 xref: GENATLAS:DNAJB6 xref: HGNC:14888 xref: OMIM:611332 xref: UNIPROTKB/SWISSPROT:O75190 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:34516 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant limb-girdle muscular dystrophy type 1D property_value: alternative:term "MRJ" xsd:string property_value: symbol "DNAJB6" xsd:string [Term] id: Orphanet:296690 name: dynein, axonemal, assembly factor 3 xref: ENSEMBL:ENSG00000167646 xref: GENATLAS:C19orf51 xref: HGNC:30492 xref: OMIM:614566 xref: UNIPROTKB/SWISSPROT:Q8N9W5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "C19orf51" xsd:string property_value: alternative:term "Chromosome 19 open reading frame 51" xsd:string property_value: alternative:term "CILD2" xsd:string property_value: alternative:term "ciliary dyskinesia, primary 2" xsd:string property_value: alternative:term "FLJ36139" xsd:string property_value: alternative:term "FLJ40069" xsd:string property_value: alternative:term "PCD" xsd:string property_value: alternative:term "PF22" xsd:string property_value: symbol "DNAAF3" xsd:string [Term] id: Orphanet:296697 name: RNA binding motif protein 8A xref: ENSEMBL:ENSG00000131795 xref: GENATLAS:RBM8A xref: HGNC:9905 xref: OMIM:605313 xref: REACTOME:Q9Y5S9 xref: UNIPROTKB/SWISSPROT:Q9Y5S9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3320 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thrombocytopenia - absent radius property_value: alternative:term "BOV-1A" xsd:string property_value: alternative:term "BOV-1B" xsd:string property_value: alternative:term "BOV-1C" xsd:string property_value: alternative:term "RBM8" xsd:string property_value: alternative:term "RBM8B" xsd:string property_value: alternative:term "Y14" xsd:string property_value: alternative:term "ZNRP" xsd:string property_value: symbol "RBM8A" xsd:string [Term] id: Orphanet:2967 name: Protein R deficiency xref: ICD10:E53.8 xref: OMIM:193090 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:79171 ! Disorder of cobalamin metabolism and transport [Term] id: Orphanet:2968 name: Leukocyte adhesion deficiency xref: ICD10:D84.8 xref: MESH:D018370 xref: OMIM:116920 xref: OMIM:266265 xref: OMIM:612840 xref: SNOMED CT:77358003 xref: UMLS:C0242597 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183681 ! Functional neutrophil defect property_value: alternative:term "LAD" xsd:string [Term] id: Orphanet:2969 name: Proteus-like syndrome xref: ICD10:Q87.3 xref: OMIM:158350 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:294057 ! Rare nevus relationship: part_of Orphanet:306498 ! PTEN hamartoma tumor syndrome property_value: alternative:term "Cohen-Hayden syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease." xsd:string [Term] id: Orphanet:297 name: Tick-borne encephalitis xref: ICD10:A84 xref: MEDDRA:10043848 xref: MESH:D004675 xref: SNOMED CT:414093008 xref: SNOMED CT:415821008 xref: UMLS:C0014061 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:166490 ! Infectious disease with epilepsy relationship: part_of Orphanet:98252 ! Infectious encephalitis property_value: alternative:term "Dermacentor-borne necrosis - erythema - lymphadenopathy" xsd:string [Term] id: Orphanet:2970 name: Prune belly syndrome xref: ICD10:Q79.4 xref: MEDDRA:10051025 xref: MESH:C536477 xref: MESH:D011535 xref: OMIM:100100 xref: SNOMED CT:18241005 xref: SNOMED CT:5187006 xref: UMLS:C0033770 xref: UMLS:C0265363 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:357506 ! Genetic nonsyndromic renal or urinary tract malformation relationship: part_of Orphanet:93546 ! Nonsyndromic renal or urinary tract malformation property_value: alternative:term "Eagle-Barret syndrome" xsd:string property_value: alternative:term "Urethral obstruction sequence" xsd:string [Term] id: Orphanet:2971 name: Peroxisomal acyl-CoA oxidase deficiency xref: ICD10:E71.3 xref: MESH:C536662 xref: OMIM:264470 xref: SNOMED CT:238069004 xref: UMLS:C0342871 xref: UMLS:C1849678 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:225686 ! Peroxisomal disease with epilepsy relationship: part_of Orphanet:79188 ! Peroxisomal beta-oxidation disorder property_value: alternative:term "Pseudo-NALD" xsd:string property_value: alternative:term "Pseudo-neonatal adrenoleukodystrophy" xsd:string property_value: alternative:term "Pseudoadrenoleukodystrophy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy." xsd:string [Term] id: Orphanet:2972 name: Non-eruption of teeth - maxillary hypoplasia - genu valgum xref: MESH:C536952 xref: MESH:C537496 xref: OMIM:273050 xref: UMLS:C1848903 xref: UMLS:C2931509 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component property_value: alternative:term "Stoelinga-de Koomen-Davis syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " and deformed ears." xsd:string [Term] id: Orphanet:297206 name: potassium inwardly-rectifying channel, subfamily J, member 8 xref: ENSEMBL:ENSG00000121361 xref: GENATLAS:KCNJ8 xref: HGNC:6269 xref: IUPHAR:441 xref: OMIM:600935 xref: REACTOME:Q15842 xref: UNIPROTKB/SWISSPROT:Q15842 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:130 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brugada syndrome property_value: alternative:term "Kir6.1" xsd:string property_value: symbol "KCNJ8" xsd:string [Term] id: Orphanet:297209 name: RAD51 paralog D xref: ENSEMBL:ENSG00000185379 xref: GENATLAS:RAD51L3 xref: HGNC:9823 xref: OMIM:602954 xref: UNIPROTKB/SWISSPROT:O75771 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:145 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary breast and ovarian cancer syndrome property_value: alternative:term "DNA repair protein RAD51 homolog 4" xsd:string property_value: alternative:term "HsTRAD" xsd:string property_value: alternative:term "R51H3" xsd:string property_value: alternative:term "RAD51 (S. cerevisiae)-like 3" xsd:string property_value: alternative:term "RAD51 homolog D (S. cerevisiae)" xsd:string property_value: alternative:term "RAD51-like 3 (S. cerevisiae)" xsd:string property_value: alternative:term "RAD51L3" xsd:string property_value: alternative:term "Recombination repair protein" xsd:string property_value: alternative:term "Trad" xsd:string property_value: symbol "RAD51D" xsd:string [Term] id: Orphanet:2973 name: 46,XX disorder of sex development - anorectal anomalies is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:180148 ! Syndromic uterovaginal malformation relationship: part_of Orphanet:325109 ! Syndrome with 46,XX disorder of sex development property_value: alternative:term "Female pseudohermaphrodism - anorectal anomalies" xsd:string [Term] id: Orphanet:297456 name: 5-oxoprolinase (ATP-hydrolysing) xref: ENSEMBL:ENSG00000178814 xref: GENATLAS:OPLAH xref: HGNC:8149 xref: OMIM:614243 xref: REACTOME:O14841 xref: UNIPROTKB/SWISSPROT:O14841 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:33572 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 5-oxoprolinase deficiency property_value: alternative:term "5-Opase" xsd:string property_value: alternative:term "OPLA" xsd:string property_value: symbol "OPLAH" xsd:string [Term] id: Orphanet:2975 name: 46,XX disorder of sex development - skeletal anomalies xref: OMIM:264270 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:325109 ! Syndrome with 46,XX disorder of sex development relationship: part_of Orphanet:325638 ! Syndrome with disorder of sex development of gynecological interest property_value: alternative:term "Female pseudohermaphroditism - skeletal anomalies" xsd:string [Term] id: Orphanet:2976 name: Pseudoleprechaunism syndrome, Patterson type xref: ICD10:E34.8 xref: MESH:C536310 xref: OMIM:169170 xref: UMLS:C1868546 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:183637 ! Rare genetic adrenal disease relationship: part_of Orphanet:314749 ! Rare disease with Cushing syndrome as a major feature [Term] id: Orphanet:2978 name: Chronic intestinal pseudo-obstruction xref: ICD10:K59.8 xref: OMIM:243180 xref: OMIM:300048 xref: OMIM:601223 xref: OMIM:609629 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:104009 ! Congenital intestinal motility disorder property_value: alternative:term "CIPO" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." xsd:string [Term] id: Orphanet:298 name: Mitochondrial neurogastrointestinal encephalomyopathy xref: ICD10:G71.3 xref: OMIM:603041 xref: OMIM:612075 xref: OMIM:613662 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:104013 ! Metabolic disease with intestinal involvement relationship: part_of Orphanet:206966 ! Mitochondrial myopathy relationship: part_of Orphanet:225700 ! Mitochondrial disease with epilepsy relationship: part_of Orphanet:225703 ! Mitochondrial disease with peripheral neuropathy relationship: part_of Orphanet:35698 ! Mitochondrial DNA depletion syndrome relationship: part_of Orphanet:79193 ! Disorder of pyrimidine metabolism relationship: part_of Orphanet:98578 ! Ptosis relationship: part_of Orphanet:98695 ! Mitochondrial disease with eye involvement property_value: alternative:term "MNGIE" xsd:string [Term] id: Orphanet:2980 name: Acro-oto-ocular syndrome xref: ICD10:Q87.0 xref: OMIM:264475 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:98578 ! Ptosis property_value: alternative:term "Pseudopapilledema - blepharophimosis - hand anomalies" xsd:string [Term] id: Orphanet:2982 name: 46,XX disorder of sex development xref: ICD10:Q56.2 xref: MESH:D058489 xref: UMLS:C2936403 is_a: Orphanet:90771 ! Disorder of sex development property_value: alternative:term "46,XX DSD" xsd:string property_value: alternative:term "Female pseudohermaphrodism" xsd:string [Term] id: Orphanet:29822 name: Spontaneous periodic hypothermia xref: ICD10:G90.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98006 ! Rare neurologic disease property_value: alternative:term "Episodic spontaneous hypothermia" xsd:string property_value: alternative:term "Shapiro syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesion" xsd:string [Term] id: Orphanet:2983 name: Disorder of sex development - intellectual deficit xref: ICD10:Q56.3 xref: OMIM:600122 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:325638 ! Syndrome with disorder of sex development of gynecological interest relationship: part_of Orphanet:98087 ! Syndrome with 46,XY disorder of sex development property_value: alternative:term "Pseudohermaphroditism - intellectual deficit" xsd:string property_value: alternative:term "Verloes-Gillerot-Fryns syndrome" xsd:string [Term] id: Orphanet:2985 name: Pseudoprogeria syndrome xref: ICD10:Q87.8 xref: OMIM:200130 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139033 ! Progeroid syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:363245 ! Genetic progeroid syndrome property_value: alternative:term "Eyebrows and eyelashes absence - intellectual deficit" xsd:string property_value: alternative:term "Hal-Berg-Rudolph syndrome" xsd:string [Term] id: Orphanet:298500 name: atonal homolog 7 (Drosophila) xref: ENSEMBL:ENSG00000179774 xref: GENATLAS:ATOH7 xref: HGNC:13907 xref: OMIM:609875 xref: UNIPROTKB/SWISSPROT:Q8N100 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:289499 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital cataract microcornea with corneal opacity relationship: Orphanet:317343 Orphanet:300337 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital blindness due to retinal non-attachment relationship: Orphanet:317343 Orphanet:91495 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Persistent hyperplastic primary vitreous property_value: alternative:term "bHLHa13" xsd:string property_value: alternative:term "Math5" xsd:string property_value: symbol "ATOH7" xsd:string [Term] id: Orphanet:298644 name: Disorder of thiamin metabolism and transport is_a: Orphanet:309827 ! Disorder of vitamin and non-protein cofactor absorption and transport  [Term] id: Orphanet:2987 name: Antecubital pterygium syndrome xref: OMIM:178200 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183472 ! Genetic dermis disorder relationship: part_of Orphanet:79381 ! Unclassified dermis disorder [Term] id: Orphanet:298784 name: uncoupling protein 2 (mitochondrial, proton carrier) xref: ENSEMBL:ENSG00000175567 xref: GENATLAS:UCP2 xref: HGNC:12518 xref: OMIM:601693 xref: REACTOME:P55851 xref: UNIPROTKB/SWISSPROT:P55851 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:276556 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperinsulinism due to UCP2 deficiency property_value: alternative:term "SLC25A8" xsd:string property_value: symbol "UCP2" xsd:string [Term] id: Orphanet:2988 name: Pterygium colli - intellectual deficit - digital anomalies xref: ICD10:Q87.0 xref: OMIM:600159 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Khalifa-Graham syndrome" xsd:string [Term] id: Orphanet:2989 name: Pterygium of the conjunctiva, familial form xref: OMIM:178000 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98616 ! Conjunctival tumor [Term] id: Orphanet:2990 name: Autosomal recessive multiple pterygium syndrome xref: ICD10:Q79.8 xref: OMIM:265000 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:183472 ! Genetic dermis disorder relationship: part_of Orphanet:294060 ! Multiple pterygium syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Autosomal recessive non-lethal multiple pterygium syndrome" xsd:string property_value: alternative:term "Escobar syndrome" xsd:string property_value: alternative:term "Escobar variant multiple pterygium syndrome" xsd:string property_value: alternative:term "EVMPS" xsd:string [Term] id: Orphanet:299148 name: cholinergic receptor, muscarinic 3 xref: ENSEMBL:ENSG00000133019 xref: GENATLAS:CHRM3 xref: HGNC:1952 xref: IUPHAR:15 xref: OMIM:118494 xref: REACTOME:P20309 xref: UNIPROTKB/SWISSPROT:P20309 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2970 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Prune belly syndrome property_value: alternative:term "Acetylcholine receptor, muscarinic 3" xsd:string property_value: symbol "CHRM3" xsd:string [Term] id: Orphanet:299152 name: isocitrate dehydrogenase 1 (NADP+), soluble xref: ENSEMBL:ENSG00000138413 xref: GENATLAS:IDH1 xref: HGNC:5382 xref: OMIM:147700 xref: REACTOME:O75874 xref: UNIPROTKB/SWISSPROT:O75874 is_a: Orphanet:C010 ! gene relationship: Orphanet:317344 Orphanet:163634 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maffucci syndrome relationship: Orphanet:317344 Orphanet:296 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Enchondromatosis relationship: Orphanet:317344 Orphanet:99646 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria relationship: Orphanet:317347 Orphanet:251576 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gliosarcoma relationship: Orphanet:317347 Orphanet:251579 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Giant cell glioblastoma property_value: symbol "IDH1" xsd:string [Term] id: Orphanet:299156 name: regulatory factor X, 6 xref: ENSEMBL:ENSG00000185002 xref: GENATLAS:RFX6 xref: HGNC:21478 xref: OMIM:612659 xref: UNIPROTKB/SWISSPROT:Q8HWS3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:293864 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome property_value: alternative:term "dJ955L16.1" xsd:string property_value: alternative:term "MGC33442" xsd:string property_value: alternative:term "Regulatory factor X domain containing 1" xsd:string property_value: alternative:term "RFXDC1" xsd:string property_value: symbol "RFX6" xsd:string [Term] id: Orphanet:299166 name: cytochrome P450, family 26, subfamily B, polypeptide 1 xref: ENSEMBL:ENSG00000003137 xref: GENATLAS:CYP26B1 xref: HGNC:20581 xref: OMIM:605207 xref: REACTOME:Q9NR63 xref: UNIPROTKB/SWISSPROT:Q9NR63 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:293925 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lethal occipital encephalocele-skeletal dysplasia syndrome property_value: alternative:term "P450RAI-2" xsd:string property_value: symbol "CYP26B1" xsd:string [Term] id: Orphanet:299169 name: microRNA 184 xref: ENSEMBL:ENSG00000207695 xref: GENATLAS:MIR184 xref: HGNC:31555 xref: OMIM:613146 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:293936 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! EDICT syndrome property_value: alternative:term "hsa-mir-184" xsd:string property_value: alternative:term "MIRN184" xsd:string property_value: symbol "MIR184" xsd:string [Term] id: Orphanet:299186 name: thiamin pyrophosphokinase 1 xref: ENSEMBL:ENSG00000196511 xref: GENATLAS:TPK1 xref: HGNC:17358 xref: OMIM:606370 xref: REACTOME:Q9H3S4 xref: UNIPROTKB/SWISSPROT:Q9H3S4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:293955 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Childhood encephalopathy due to thiamine pyrophosphokinase deficiency property_value: alternative:term "HTPK1" xsd:string property_value: alternative:term "Placental protein 20" xsd:string property_value: alternative:term "PP20" xsd:string property_value: alternative:term "Thiamine diphosphokinase" xsd:string property_value: alternative:term "Thiamine kinase" xsd:string property_value: alternative:term "Thiamine pyrophosphokinase 1" xsd:string property_value: symbol "TPK1" xsd:string [Term] id: Orphanet:2994 name: Short stature - craniofacial anomalies - genital hypoplasia xref: ICD10:Q87.8 xref: OMIM:177980 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Haspeslagh-Fryns-Muelenaere syndrome" xsd:string [Term] id: Orphanet:299456 name: ADAM metallopeptidase domain 17 xref: ENSEMBL:ENSG00000151694 xref: GENATLAS:ADAM17 xref: HGNC:195 xref: IUPHAR:1662 xref: OMIM:603639 xref: REACTOME:P78536 xref: UNIPROTKB/SWISSPROT:P78536 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:294023 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal inflammatory skin and bowel disease property_value: alternative:term "CD156B" xsd:string property_value: alternative:term "cSVP" xsd:string property_value: alternative:term "TACE" xsd:string property_value: alternative:term "Tumor necrosis factor, alpha, converting enzyme" xsd:string property_value: symbol "ADAM17" xsd:string [Term] id: Orphanet:2995 name: Baraitser-Winter syndrome xref: ICD10:Q04.3 xref: ICD10:Q15.8 xref: OMIM:243310 xref: OMIM:614583 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102010 ! Other syndrome with lissencephaly as a major feature relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98578 ! Ptosis property_value: alternative:term "Cerebrofrontofacial syndrome type 3" xsd:string property_value: alternative:term "Iris coloboma-ptosis-intellectual deficit syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns -Aftimos (FA) corresponds to the appearance of BWS in elderly patients." xsd:string [Term] id: Orphanet:299619 name: chromosome 5 open reading frame 42 xref: ENSEMBL:ENSG00000197603 xref: GENATLAS:C5orf42 xref: HGNC:25801 xref: OMIM:614571 xref: UNIPROTKB/SWISSPROT:Q9H799 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:475 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome relationship: Orphanet:317345 Orphanet:65684 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Monomelic amyotrophy property_value: alternative:term "FLJ13231" xsd:string property_value: symbol "C5ORF42" xsd:string [Term] id: Orphanet:299622 name: rogdi homolog (Drosophila) xref: ENSEMBL:ENSG00000067836 xref: GENATLAS:ROGDI xref: HGNC:29478 xref: OMIM:614574 xref: UNIPROTKB/SWISSPROT:Q9GZN7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1946 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amelo-cerebro-hypohidrotic syndrome property_value: alternative:term "FLJ22386" xsd:string property_value: symbol "ROGDI" xsd:string [Term] id: Orphanet:299625 name: methylthioadenosine phosphorylase xref: ENSEMBL:ENSG00000099810 xref: GENATLAS:MTAP xref: HGNC:7413 xref: OMIM:156540 xref: REACTOME:Q13126 xref: UNIPROTKB/SWISSPROT:Q13126 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:85182 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Diaphyseal medullary stenosis - bone malignancy property_value: alternative:term "c86fus" xsd:string property_value: alternative:term "MSAP" xsd:string property_value: alternative:term "S-methyl-5'-thioadenosine phosphorylase" xsd:string property_value: symbol "MTAP" xsd:string [Term] id: Orphanet:299630 name: phosphodiesterase 4D, cAMP-specific xref: ENSEMBL:ENSG00000113448 xref: GENATLAS:PDE4D xref: HGNC:8783 xref: OMIM:600129 xref: REACTOME:Q08499 xref: UNIPROTKB/SWISSPROT:Q08499 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:280651 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acrodysostosis with multiple hormone resistance relationship: Orphanet:317343 Orphanet:950 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acrodysostosis property_value: alternative:term "DPDE3" xsd:string property_value: alternative:term "Phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)" xsd:string property_value: alternative:term "Phosphodiesterase E3 dunce homolog (Drosophila)" xsd:string property_value: symbol "PDE4D" xsd:string [Term] id: Orphanet:299636 name: phosphatidylinositol glycan anchor biosynthesis, class L xref: ENSEMBL:ENSG00000108474 xref: GENATLAS:PIGL xref: HGNC:8966 xref: OMIM:605947 xref: REACTOME:Q9Y2B2 xref: UNIPROTKB/SWISSPROT:Q9Y2B2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3474 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zunich-Kaye syndrome property_value: alternative:term "N-acetylglucosaminylphosphatidylinositol deacetylase" xsd:string property_value: alternative:term "Phosphatidylinositol glycan, class L" xsd:string property_value: symbol "PIGL" xsd:string [Term] id: Orphanet:299641 name: superkiller viralicidic activity 2-like (S. cerevisiae) xref: ENSEMBL:ENSG00000204351 xref: GENATLAS:SKIV2L xref: HGNC:10898 xref: OMIM:600478 xref: REACTOME:Q15477 xref: UNIPROTKB/SWISSPROT:Q15477 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:84064 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Syndromic diarrhea property_value: alternative:term "170A" xsd:string property_value: alternative:term "DDX13" xsd:string property_value: alternative:term "HLP" xsd:string property_value: alternative:term "SKI2W" xsd:string property_value: alternative:term "SKIV2" xsd:string property_value: alternative:term "Superkiller viralicidic activity 2 (S. cerevisiae homolog)-like" xsd:string property_value: symbol "SKIV2L" xsd:string [Term] id: Orphanet:299649 name: X-ray repair complementing defective repair in Chinese hamster cells 2 xref: ENSEMBL:ENSG00000196584 xref: GENATLAS:XRCC2 xref: HGNC:12829 xref: OMIM:600375 xref: UNIPROTKB/SWISSPROT:O43543 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:227535 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary breast cancer property_value: alternative:term "RAD51-like" xsd:string property_value: symbol "XRCC2" xsd:string [Term] id: Orphanet:299652 name: sorting nexin 10 xref: ENSEMBL:ENSG00000086300 xref: GENATLAS:SNX10 xref: HGNC:14974 xref: OMIM:614780 xref: UNIPROTKB/SWISSPROT:Q9Y5X0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:667 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive malignant osteopetrosis property_value: symbol "SNX10" xsd:string [Term] id: Orphanet:299657 name: mitochondrial methionyl-tRNA formyltransferase xref: ENSEMBL:ENSG00000103707 xref: GENATLAS:MTFMT xref: HGNC:29666 xref: OMIM:611766 xref: UNIPROTKB/SWISSPROT:Q96DP5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2609 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated NADH-CoQ reductase deficiency relationship: Orphanet:317343 Orphanet:319524 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined oxidative phosphorylation defect type 15 property_value: alternative:term "FMT1" xsd:string property_value: symbol "MTFMT" xsd:string [Term] id: Orphanet:299660 name: v-akt murine thymoma viral oncogene homolog 3 xref: ENSEMBL:ENSG00000117020 xref: GENATLAS:AKT3 xref: HGNC:393 xref: IUPHAR:2286 xref: OMIM:611223 xref: REACTOME:Q9Y243 xref: UNIPROTKB/SWISSPROT:Q9Y243 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:83473 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus relationship: Orphanet:317344 Orphanet:99802 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hemimegalencephaly property_value: alternative:term "PKBG" xsd:string property_value: alternative:term "PRKBG" xsd:string property_value: alternative:term "protein kinase B, gamma" xsd:string property_value: alternative:term "RAC-gamma" xsd:string property_value: alternative:term "v-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma)" xsd:string property_value: symbol "AKT3" xsd:string [Term] id: Orphanet:2997 name: Ptosis - vocal cord paralysis xref: OMIM:193240 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:98578 ! Ptosis property_value: alternative:term "Tucker syndrome" xsd:string [Term] id: Orphanet:2998 name: Carnevale syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_293843 with label: Craniofacial-ulnar-renal syndrome" xsd:string [Term] id: Orphanet:2999 name: Ptosis - strabismus - ectopic pupils xref: OMIM:178330 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98578 ! Ptosis property_value: alternative:term "McPherson-Hall syndrome" xsd:string [Term] id: Orphanet:30 name: Hereditary orotic aciduria xref: ICD10:D53.0 xref: MEDDRA:10052621 xref: MESH:C537136 xref: OMIM:258900 xref: SNOMED CT:16242007 xref: SNOMED CT:69525003 xref: UMLS:C0220987 xref: UMLS:C0268130 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79193 ! Disorder of pyrimidine metabolism relationship: part_of Orphanet:98415 ! Vitamin B12- and folate-independent constitutional megaloblastic anemia property_value: alternative:term "Oroticaciduria" xsd:string property_value: alternative:term "Orotidylic decarboxylase deficiency" xsd:string property_value: alternative:term "Uridine monophosphate synthetase deficiency" xsd:string [Term] id: Orphanet:300 name: Bifunctional enzyme deficiency xref: ICD10:E71.3 xref: MESH:C536663 xref: OMIM:261515 xref: SNOMED CT:238068007 xref: UMLS:C0342870 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:79188 ! Peroxisomal beta-oxidation disorder [Term] id: Orphanet:3000 name: Testotoxicosis xref: ICD10:E30.1 xref: MEDDRA:10063654 xref: MEDDRA:10063656 xref: MESH:C536961 xref: OMIM:176410 xref: SNOMED CT:237818003 xref: UMLS:C0342549 xref: UMLS:C1504412 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:95708 ! Precocious puberty property_value: alternative:term "Familial gonadotropin-independent male-limited sexual precocity" xsd:string property_value: alternative:term "Male limited precocious puberty" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Testotoxicosis (Ttx) is a familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. Ttx is gonadotropin-independent." xsd:string [Term] id: Orphanet:300179 name: Ehlers-Danlos syndrome, kyphoscoliotic and deafness type xref: ICD10:Q79.6 xref: OMIM:614557 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98249 ! Ehlers-Danlos syndrome property_value: alternative:term "EDS with progressive kyphoscoliosis, myopathy, and deafness" xsd:string property_value: alternative:term "EDS with progressive kyphoscoliosis, myopathy, and hearing loss" xsd:string property_value: alternative:term "EDS, kyphoscoliotic and hearing loss type" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (EDKDT) is a form of Ehlers-Danlos syndrome (EDS; see this term), characterized by severe kyphoscolosis in conjunction with sensorineural hearing impairment and normal urinary pyridinoline excretion." xsd:string [Term] id: Orphanet:3002 name: Immune thrombocytopenic purpura xref: ICD10:D69.3 xref: MEDDRA:10021245 xref: MESH:D016553 xref: OMIM:188030 xref: SNOMED CT:234490009 xref: UMLS:C0398650 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:71203 ! Autoimmune thrombocytopenia property_value: alternative:term "Immune thrombocytopenia" xsd:string property_value: alternative:term "ITP" xsd:string property_value: alternative:term "Thrombocytopenic purpura, autoimmune" xsd:string [Term] id: Orphanet:300201 name: phosphoinositide-3-kinase, regulatory subunit 5 xref: ENSEMBL:ENSG00000141506 xref: HGNC:30035 xref: OMIM:611317 xref: REACTOME:Q8WYR1 xref: UNIPROTKB/SWISSPROT:Q8WYR1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:64753 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia with axonal neuropathy type 2 property_value: alternative:term "p101" xsd:string property_value: alternative:term "P101-PI3K" xsd:string property_value: symbol "PIK3R5" xsd:string [Term] id: Orphanet:300208 name: calcium channel, voltage-dependent, alpha 2/delta subunit 1 xref: ENSEMBL:ENSG00000153956 xref: GENATLAS:CACNA2D1 xref: HGNC:1399 xref: OMIM:114204 xref: UNIPROTKB/SWISSPROT:P54289 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:51083 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial short QT syndrome property_value: alternative:term "CACNA2" xsd:string property_value: alternative:term "CACNL2A" xsd:string property_value: alternative:term "LINC01112" xsd:string property_value: alternative:term "lncRNA-N3" xsd:string property_value: alternative:term "long intergenic non-protein coding RNA 1112" xsd:string property_value: alternative:term "MHS3" xsd:string property_value: symbol "CACNA2D1" xsd:string [Term] id: Orphanet:300284 name: Connective tissue disorder due to lysyl hydroxylase-3 deficiency xref: OMIM:612394 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:139030 ! Malformation syndrome with connective tissue involvement relationship: part_of Orphanet:182222 ! Rare systemic disease relationship: part_of Orphanet:271870 ! Rare genetic systemic or rheumatologic disease relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Bone fragility-contractures-arterial rupture-deafness syndrome" xsd:string property_value: alternative:term "Connective tissue disorder due to LH3 deficiency" xsd:string [Term] id: Orphanet:300293 name: Infantile regressive hypertriglyceridemia and hepatosteatosis xref: OMIM:614480 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101939 ! Rare parenchymatous liver disease relationship: part_of Orphanet:156604 ! Genetic parenchymatous liver disease property_value: alternative:term "Infantile regressive hypertriglyceridemia and fatty liver" xsd:string [Term] id: Orphanet:300298 name: Severe congenital hypochromic anemia with ringed sideroblasts xref: ICD10:D64.0 xref: OMIM:615234 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98360 ! Constitutional anemia due to iron metabolism disorder relationship: part_of Orphanet:98362 ! Constitutional sideroblastic anemia property_value: alternative:term "Severe congenital hypochromic sideroblastic anemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels." xsd:string [Term] id: Orphanet:3003 name: Pyknoachondrogenesis xref: ICD10:Q78.8 xref: MESH:C536251 xref: OMIM:265880 xref: UMLS:C1849523 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93465 ! Lethal chondrodysplasia property_value: alternative:term "Camera syndrome" xsd:string [Term] id: Orphanet:300305 name: 11p15.4 microduplication syndrome xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:262785 ! Partial duplication of the short arm of chromosome 11 relationship: part_of Orphanet:93460 ! Overgrowth syndrome property_value: alternative:term "Dup(11)p(15.4)" xsd:string property_value: alternative:term "Trisomy 11p15.4" xsd:string [Term] id: Orphanet:300313 name: Congenital cataract-hearing loss-severe developmental delay syndrome xref: OMIM:614482 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:98641 ! Syndromic cataract property_value: alternative:term "Congenital cataract-deafness-severe developmental delay syndrome" xsd:string property_value: alternative:term "Lethal neurodegenerative disorder due to copper transport defect" xsd:string [Term] id: Orphanet:300319 name: Autosomal dominant Charcot-Marie-Tooth disease type 2P xref: ICD10:G60.0 xref: OMIM:614436 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:64746 ! Autosomal dominant Charcot-Marie-Tooth disease type 2 property_value: alternative:term "CMT2P" xsd:string [Term] id: Orphanet:300324 name: Persistent polyclonal B-cell lymphocytosis xref: OMIM:606445 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:171898 ! Lymphoid hemopathy property_value: alternative:term "Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes" xsd:string property_value: alternative:term "PPBL" xsd:string [Term] id: Orphanet:300333 name: Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome xref: OMIM:609057 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:93550 ! Basement membrane disease property_value: alternative:term "Nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome" xsd:string [Term] id: Orphanet:300337 name: Congenital blindness due to retinal non-attachment xref: ICD10:H33.2 xref: OMIM:221900 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98657 ! Genetic vitreous-retinal disease property_value: alternative:term "Congenital retinal detachment" xsd:string property_value: alternative:term "NCRNA disease" xsd:string property_value: alternative:term "Non-syndromic congenital retinal non-attachment" xsd:string [Term] id: Orphanet:300345 name: Autosomal recessive systemic lupus erythematosus xref: ICD10:M32.8 xref: OMIM:614420 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182228 ! Systemic autoimmune disease relationship: part_of Orphanet:271870 ! Rare genetic systemic or rheumatologic disease property_value: alternative:term "Autosomal recessive SLE" xsd:string property_value: alternative:term "Familial SLE" xsd:string property_value: alternative:term "Familial systemic lupus erythematosus" xsd:string [Term] id: Orphanet:300359 name: PLCG2-associated antibody deficiency and immune dysregulation xref: ICD10:L50.2 xref: OMIM:614468 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:169361 ! Immune dysregulation disease with immunodeficiency relationship: part_of Orphanet:182228 ! Systemic autoimmune disease relationship: part_of Orphanet:79384 ! Rare urticaria property_value: alternative:term "FACU" xsd:string property_value: alternative:term "Familial atypical cold urticaria" xsd:string property_value: alternative:term "Familial cold urticaria with common variable immunodeficiency" xsd:string property_value: alternative:term "PLAID" xsd:string [Term] id: Orphanet:300373 name: Familial infantile gigantism xref: ICD10:E22.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181384 ! Rare hypothalamic or pituitary disease relationship: part_of Orphanet:183628 ! Rare genetic hypothalamic or pituitary disease property_value: alternative:term "Hereditary infantile gigantism" xsd:string property_value: alternative:term "Hereditary pituitary hyperplasia" xsd:string property_value: alternative:term "Infantile gigantism due to pituitary hyperplasia" xsd:string [Term] id: Orphanet:300382 name: Progeroid and marfanoid aspect-lipodystrophy syndrome xref: ICD10:E88.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182222 ! Rare systemic disease relationship: part_of Orphanet:271870 ! Rare genetic systemic or rheumatologic disease [Term] id: Orphanet:300385 name: Pituitary carcinoma xref: ICD10:C75.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:304055 ! Pituitary tumor [Term] id: Orphanet:3004 name: Mirror polydactyly - vertebral segmentation - limbs defects xref: ICD10:Q87.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy [Term] id: Orphanet:300493 name: Sagliker syndrome is_a: Orphanet:377793 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! particular clinical situation in a disease or syndrome relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93419 ! Rare bone disease [Term] id: Orphanet:300496 name: Multiple congenital anomalies-hypotonia-seizures syndrome type 2 xref: ICD10:Q87.8 xref: OMIM:300868 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183533 ! Genetic multiple congenital anomalies/dysmorphic syndrome relationship: part_of Orphanet:309515 ! Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature relationship: part_of Orphanet:371235 ! Congenital disorder of glycosylation with developmental anomaly relationship: part_of Orphanet:68341 ! Multiple congenital anomalies/dysmorphic syndrome property_value: alternative:term "MCAHS type 2" xsd:string [Term] id: Orphanet:3005 name: Pyle disease xref: ICD10:Q78.5 xref: MESH:C536252 xref: OMIM:265900 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density property_value: alternative:term "Metaphyseal dysplasia, Pyle type" xsd:string [Term] id: Orphanet:300501 name: Painful orbital and systemic neurofibromas-marfanoid habitus syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:252131 ! Benign peripheral nerve sheath tumor [Term] id: Orphanet:300504 name: Onychocytic matricoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:300515 ! Rare nail tumor property_value: alternative:term "Acanthoma of the nail matrix" xsd:string [Term] id: Orphanet:300512 name: Onychomatricoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:300515 ! Rare nail tumor [Term] id: Orphanet:300515 name: Rare nail tumor is_a: Orphanet:79386 ! Rare skin tumor or hamartoma [Term] id: Orphanet:300525 name: Pseudohypoaldosteronism type 2D xref: ICD10:I15.1 xref: OMIM:614495 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:757 ! Pseudohypoaldosteronism type 2 property_value: alternative:term "PHA2D" xsd:string [Term] id: Orphanet:300530 name: Pseudohypoaldosteronism type 2E xref: ICD10:I15.1 xref: OMIM:614496 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:757 ! Pseudohypoaldosteronism type 2 property_value: alternative:term "PHA2E" xsd:string [Term] id: Orphanet:300536 name: DDOST-CDG xref: ICD10:E77.8 xref: OMIM:614507 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371047 ! Congenital disorder of glycosylation with neurological involvement relationship: part_of Orphanet:371157 ! Congenital disorder of glycosylation with hepatic involvement property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type Ir" xsd:string property_value: alternative:term "CDG syndrome type Ir" xsd:string property_value: alternative:term "CDG-Ir" xsd:string property_value: alternative:term "CDG1R" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type 1r" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type Ir" xsd:string [Term] id: Orphanet:300547 name: Autosomal recessive infantile hypercalcemia xref: ICD10:E83.5 xref: OMIM:143880 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183634 ! Rare genetic parathyroid disease and phosphocalcic metabolism disorder relationship: part_of Orphanet:68415 ! Rare parathyroid diseases and phosphocalcic metabolism disorder relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease property_value: alternative:term "Familial infantile hypercalcemia with suppressed intact parathyroid hormone" xsd:string [Term] id: Orphanet:300552 name: Follicular cholangitis and pancreatitis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101937 ! Rare pancreatic disease relationship: part_of Orphanet:101941 ! Rare biliary tract disease property_value: alternative:term "Follicular pancreatocholangitis" xsd:string [Term] id: Orphanet:300557 name: Carcinoma of the ampulla of Vater xref: ICD10:C24.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:101943 ! Rare hepatic and biliary tract tumor property_value: alternative:term "Ampullary carcinoma" xsd:string property_value: alternative:term "Ampulloma" xsd:string [Term] id: Orphanet:300564 name: Combined pulmonary fibrosis-emphysema syndrome xref: ICD10:J84.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98300 ! Idiopathic interstitial pneumonia property_value: alternative:term "CPFE" xsd:string [Term] id: Orphanet:300570 name: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation xref: ICD10:Q04.3 xref: OMIM:614039 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:163209 ! Nonsyndromic cerebral malformation due to abnormal neuronal migration [Term] id: Orphanet:300573 name: Polymicrogyria due to TUBB2B mutation xref: ICD10:Q04.3 xref: OMIM:610031 is_a: Orphanet:208444 ! Bilateral frontal polymicrogyria relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 [Term] id: Orphanet:300576 name: Oligodontia - cancer predisposition syndrome xref: OMIM:608615 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer property_value: alternative:term "Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome syndrome" xsd:string [Term] id: Orphanet:300579 name: Staphylococcal toxemia is_a: Orphanet:163582 ! Rare bacterial infectious disease [Term] id: Orphanet:3006 name: Pyridoxine-dependent epilepsy xref: ICD10:G40.8 xref: MESH:C536254 xref: OMIM:266100 xref: SNOMED CT:124596009 xref: UMLS:C1291560 xref: UMLS:C1849508 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:225707 ! Metabolic neurotransmission anomaly with epilepsy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79192 ! Disorder of pyridoxine metabolism property_value: alternative:term "Glutamate decarboxylase deficiency" xsd:string property_value: alternative:term "Pyridoxine-responsive seizures" xsd:string property_value: alternative:term "Vitamin B6-responsive seizures" xsd:string [Term] id: Orphanet:300605 name: Juvenile amyotrophic lateral sclerosis xref: ICD10:G12.2 xref: OMIM:205100 xref: OMIM:602099 xref: OMIM:614373 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98505 ! Genetic motor neuron disease property_value: alternative:term "JALS" xsd:string property_value: alternative:term "Juvenile Charcot disease" xsd:string property_value: alternative:term "Juvenile Lou-Gehrig disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age." xsd:string [Term] id: Orphanet:300751 name: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation xref: OMIM:115200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:217607 ! Familial dilated cardiomyopathy [Term] id: Orphanet:3008 name: Pyruvate carboxylase deficiency xref: ICD10:E74.4 xref: MESH:D015324 xref: OMIM:266150 xref: SNOMED CT:87694001 xref: UMLS:C0034341 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:79177 ! Gluconeogenesis disorder property_value: alternative:term "Ataxia with lactic acidosis type 2" xsd:string property_value: alternative:term "Ataxia with lactic acidosis type II" xsd:string property_value: alternative:term "Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency" xsd:string property_value: alternative:term "Leigh syndrome due to PC deficiency" xsd:string property_value: alternative:term "Leigh syndrome due to pyruvate carboxylase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pyruvate carboxylase (PC) deficiency is a rare neuro-metabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients." xsd:string [Term] id: Orphanet:300842 name: Indolent B-cell non-Hodgkin lymphoma is_a: Orphanet:171915 ! B-cell non-Hodgkin lymphoma property_value: alternative:term "Indolent B-cell NHL" xsd:string [Term] id: Orphanet:300846 name: Aggressive B-cell non-Hodgkin lymphoma is_a: Orphanet:171915 ! B-cell non-Hodgkin lymphoma property_value: alternative:term "Aggressive B-cell NHL" xsd:string [Term] id: Orphanet:300849 name: Diffuse large B-cell lymphoma of the central nervous system xref: ICD10:C83.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:544 ! Diffuse large B-cell lymphoma property_value: alternative:term "DLBCL of the CNS" xsd:string [Term] id: Orphanet:300857 name: T-cell/histiocyte rich large B cell lymphoma xref: ICD10:C83.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:544 ! Diffuse large B-cell lymphoma property_value: alternative:term "THRLBCL" xsd:string [Term] id: Orphanet:300865 name: Primary cutaneous anaplastic large cell lymphoma xref: ICD10:C86.6 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:541 ! Primary cutaneous CD30+ T-cell lymphoproliferative disease property_value: alternative:term "C-ALCL" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It constitutes the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis (see this term) with which it shares overlapping clinical and histopathologic features." xsd:string [Term] id: Orphanet:300869 name: Splenic diffuse red pulp lymphoma xref: ICD10:C83.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:300912 ! Marginal zone lymphoma property_value: alternative:term "SDRPL" xsd:string property_value: alternative:term "Splenic diffuse red pulp B-cell lymphoma" xsd:string [Term] id: Orphanet:300878 name: Hairy cell leukemia variant xref: ICD10:C91.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:300842 ! Indolent B-cell non-Hodgkin lymphoma property_value: alternative:term "HCL-v" xsd:string property_value: alternative:term "Leukemic reticuloendotheliosis variant" xsd:string property_value: alternative:term "Prolymphocytic variant of hairy cell leukemia" xsd:string property_value: alternative:term "Prolymphocytic variant of HCL" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C) (see this term)." xsd:string [Term] id: Orphanet:300888 name: Diffuse large B-cell lymphoma with chronic inflammation xref: ICD10:C83.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:289644 ! Epstein-Barr virus-associated malignant lymphoproliferative disorder relationship: part_of Orphanet:544 ! Diffuse large B-cell lymphoma property_value: alternative:term "DLBCL with chronic inflammation" xsd:string [Term] id: Orphanet:300895 name: ALK-positive anaplastic large cell lymphoma xref: ICD10:C83.3 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:98841 ! Anaplastic large cell lymphoma property_value: alternative:term "ALK+ ALCL" xsd:string property_value: alternative:term "ALK+ anaplastic large cell lymphoma" xsd:string [Term] id: Orphanet:300903 name: ALK-negative anaplastic large cell lymphoma xref: ICD10:C83.3 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:98841 ! Anaplastic large cell lymphoma property_value: alternative:term "ALK- ALCL" xsd:string property_value: alternative:term "ALK- anaplastic large cell lymphoma" xsd:string [Term] id: Orphanet:300912 name: Marginal zone lymphoma is_a: Orphanet:300842 ! Indolent B-cell non-Hodgkin lymphoma [Term] id: Orphanet:301 name: Ependymal tumor xref: ICD10:C71.7 xref: OMIM:137800 is_a: Orphanet:182067 ! Glial tumor property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Ependymoma accounts for 10% of all pediatric central nervous system tumors and originates in ventricular spaces or from residual intra-parenchymal ependymal cells." xsd:string [Term] id: Orphanet:3010 name: Qazi-Markouizos syndrome xref: MESH:C536259 xref: OMIM:600096 xref: UMLS:C2931142 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Dysharmonic skeletal maturation - muscular fibre disproportion" xsd:string [Term] id: Orphanet:3011 name: Spastic tetraplegia - retinitis pigmentosa - intellectual deficit xref: OMIM:270950 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa property_value: alternative:term "Spastic quadriplegia - retinitis pigmentosa - intellectual deficit" xsd:string [Term] id: Orphanet:301126 name: ALG10, alpha-1,2-glucosyltransferase xref: ENSEMBL:ENSG00000139133 xref: GENATLAS:ALG10 xref: HGNC:23162 xref: OMIM:603313 xref: REACTOME:Q5BKT4 xref: UNIPROTKB/SWISSPROT:Q5BKT4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:101016 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Romano-Ward syndrome property_value: alternative:term "ALG10A" xsd:string property_value: alternative:term "Asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)" xsd:string property_value: alternative:term "Asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)" xsd:string property_value: alternative:term "Derepression of ITR1 expression 2 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "DIE2" xsd:string property_value: alternative:term "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase" xsd:string property_value: alternative:term "FLJ14751" xsd:string property_value: symbol "ALG10" xsd:string [Term] id: Orphanet:3013 name: Radiculomegaly of canine teeth- congenital cataract is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_2712 with label: Oculofaciocardiodental syndrome" xsd:string [Term] id: Orphanet:3015 name: Radio-renal syndrome xref: MESH:C536267 xref: OMIM:179280 xref: UMLS:C2931146 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects [Term] id: Orphanet:3016 name: Radius absent - anogenital anomalies xref: MESH:C535281 xref: OMIM:312190 xref: UMLS:C1839410 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects [Term] id: Orphanet:3018 name: Retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications xref: MESH:C535283 xref: OMIM:277175 xref: UMLS:C2930864 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182222 ! Rare systemic disease property_value: alternative:term "Rambaud-Gallian syndrome" xsd:string property_value: alternative:term "Rambaud-Gallian-Touchard syndrome" xsd:string [Term] id: Orphanet:3019 name: Ramon syndrome xref: ICD10:Q87.8 xref: MESH:C535285 xref: OMIM:266270 xref: UMLS:C0796133 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components property_value: alternative:term "Cherubism - gingival fibromatosis - intellectual deficit" xsd:string [Term] id: Orphanet:302 name: Epidermodysplasia verruciformis xref: ICD10:B07 xref: MEDDRA:10052339 xref: MESH:D004819 xref: OMIM:226400 xref: OMIM:305350 xref: SNOMED CT:19138001 xref: UMLS:C0014522 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183494 ! Genetic immune deficiency with skin involvement relationship: part_of Orphanet:331193 ! Other immunodeficiency syndromes due to defects in innate immunity relationship: part_of Orphanet:79391 ! Immune deficiency with skin involvement property_value: alternative:term "Lewandowsky-Lutz syndrome" xsd:string property_value: alternative:term "Lutz-Lewandowsky epidermodysplasia verruciformis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer." xsd:string [Term] id: Orphanet:3020 name: Ramsay-Hunt syndrome xref: ICD10:G11.1 xref: MESH:C535287 xref: OMIM:159700 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:306753 ! Rare disease with myoclonus as a major feature relationship: part_of Orphanet:307067 ! Rare genetic disease with myoclonus as a major feature property_value: alternative:term "Myoclonus ataxia" xsd:string [Term] id: Orphanet:3021 name: RAPADILINO syndrome xref: ICD10:Q87.1 xref: MESH:C535288 xref: OMIM:266280 xref: UMLS:C1849453 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit [Term] id: Orphanet:3022 name: Rapp-Hodgkin syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_1071 with label: Ankyloblepharon - ectodermal defects - cleft lip/palate" xsd:string [Term] id: Orphanet:3026 name: Radial ray hypoplasia - choanal atresia xref: MESH:C536263 xref: MESH:C537280 xref: OMIM:179270 xref: SNOMED CT:232373003 xref: UMLS:C0339838 xref: UMLS:C2931464 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:156246 ! Nose and cavum anomaly property_value: alternative:term "Goldblatt-Viljoen syndrome" xsd:string [Term] id: Orphanet:3027 name: Caudal regression sequence xref: ICD10:Q76.0 xref: OMIM:600145 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:268843 ! Malformation of the neurenteric canal, spinal cord and column relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Caudal dysplasia" xsd:string property_value: alternative:term "Sacral agenesis syndrome" xsd:string property_value: alternative:term "Sacral regression syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine." xsd:string [Term] id: Orphanet:302892 name: intraflagellar transport 140 homolog (Chlamydomonas) xref: ENSEMBL:ENSG00000187535 xref: GENATLAS:IFT140 xref: HGNC:29077 xref: OMIM:614620 xref: UNIPROTKB/SWISSPROT:Q96RY7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:140969 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Saldino-Mainzer syndrome relationship: Orphanet:317343 Orphanet:474 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Jeune syndrome property_value: alternative:term "gs114" xsd:string property_value: alternative:term "KIAA0590" xsd:string property_value: alternative:term "WD and tetratricopeptide repeats 2" xsd:string property_value: alternative:term "WDTC2" xsd:string property_value: symbol "IFT140" xsd:string [Term] id: Orphanet:302903 name: NOP2/Sun RNA methyltransferase family, member 2 xref: ENSEMBL:ENSG00000037474 xref: GENATLAS:NSUN2 xref: HGNC:25994 xref: OMIM:610916 xref: UNIPROTKB/SWISSPROT:Q08J23 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:235 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dubowitz syndrome relationship: Orphanet:317343 Orphanet:88616 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive nonsyndromic intellectual deficit property_value: alternative:term "FLJ20303" xsd:string property_value: alternative:term "Misu" xsd:string property_value: alternative:term "Myc-induced SUN-domain-containing protein" xsd:string property_value: alternative:term "NOL1/NOP2/Sun domain family, member 2" xsd:string property_value: alternative:term "NOP2/Sun domain family, member 2" xsd:string property_value: alternative:term "TRM4" xsd:string property_value: alternative:term "tRNA methyltransferase 4 homolog (S. cerevisiae)" xsd:string property_value: symbol "NSUN2" xsd:string [Term] id: Orphanet:302920 name: guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 xref: ENSEMBL:ENSG00000065135 xref: GENATLAS:GNAI3 xref: HGNC:4387 xref: OMIM:139370 xref: REACTOME:P08754 xref: UNIPROTKB/SWISSPROT:P08754 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:137888 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Auriculocondylar syndrome property_value: alternative:term "87U6" xsd:string property_value: symbol "GNAI3" xsd:string [Term] id: Orphanet:302923 name: phospholipase C, beta 4 xref: ENSEMBL:ENSG00000101333 xref: GENATLAS:PLCB4 xref: HGNC:9059 xref: OMIM:600810 xref: REACTOME:Q15147 xref: UNIPROTKB/SWISSPROT:Q15147 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:137888 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Auriculocondylar syndrome property_value: symbol "PLCB4" xsd:string [Term] id: Orphanet:302925 name: splicing factor 3b, subunit 4, 49kDa xref: ENSEMBL:ENSG00000143368 xref: GENATLAS:SF3B4 xref: HGNC:10771 xref: OMIM:605593 xref: REACTOME:Q15427 xref: UNIPROTKB/SWISSPROT:Q15427 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:245 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nager syndrome property_value: alternative:term "Hsh49" xsd:string property_value: alternative:term "SAP49" xsd:string property_value: alternative:term "SF3b49" xsd:string property_value: alternative:term "Splicing factor 3b, subunit 4, 49kD" xsd:string property_value: symbol "SF3B4" xsd:string [Term] id: Orphanet:302938 name: isoprenoid synthase domain containing xref: ENSEMBL:ENSG00000214960 xref: GENATLAS:ISPD xref: HGNC:37276 xref: OMIM:614631 xref: UNIPROTKB/SWISSPROT:A4D126 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352479 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency relationship: Orphanet:317343 Orphanet:370980 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital muscular dystrophy without intellectual disability relationship: Orphanet:317343 Orphanet:899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Walker-Warburg syndrome property_value: alternative:term "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)" xsd:string property_value: alternative:term "hCG_1745121" xsd:string property_value: alternative:term "IspD" xsd:string property_value: alternative:term "Nip" xsd:string property_value: alternative:term "Notch1-induced protein" xsd:string property_value: symbol "ISPD" xsd:string [Term] id: Orphanet:302946 name: UV-stimulated scaffold protein A xref: ENSEMBL:ENSG00000163945 xref: GENATLAS:KIAA1530 xref: HGNC:29304 xref: OMIM:614632 xref: UNIPROTKB/SWISSPROT:Q2YD98 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178338 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! UV-sensitive syndrome property_value: alternative:term "KIAA1530" xsd:string property_value: symbol "UVSSA" xsd:string [Term] id: Orphanet:302951 name: potassium voltage-gated channel, Shal-related subfamily, member 3 xref: ENSEMBL:ENSG00000171385 xref: GENATLAS:KCND3 xref: HGNC:6239 xref: IUPHAR:554 xref: OMIM:605411 xref: REACTOME:Q9UK17 xref: UNIPROTKB/SWISSPROT:Q9UK17 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:130 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brugada syndrome relationship: Orphanet:317343 Orphanet:98772 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 19/22 property_value: alternative:term "KSHIVB" xsd:string property_value: alternative:term "Kv4.3" xsd:string property_value: symbol "KCND3" xsd:string [Term] id: Orphanet:303 name: Dystrophic epidermolysis bullosa xref: ICD10:Q81.2 xref: SNOMED CT:254185007 is_a: Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement is_a: Orphanet:79361 ! Inherited epidermolysis bullosa relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "DEB" xsd:string property_value: alternative:term "Dermolytic epidermolysis bullosa" xsd:string property_value: alternative:term "Epidermolysis bullosa dystrophica" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other (see these terms)." xsd:string [Term] id: Orphanet:303004 name: leucine rich repeat (in FLII) interacting protein 2 xref: ENSEMBL:ENSG00000093167 xref: GENATLAS:LRRFIP2 xref: HGNC:6703 xref: OMIM:614043 xref: UNIPROTKB/SWISSPROT:Q9Y608 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:144 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Hereditary nonpolyposis colon cancer property_value: alternative:term "HUFI-2" xsd:string property_value: symbol "LRRFIP2" xsd:string [Term] id: Orphanet:303011 name: leucine rich repeat and sterile alpha motif containing 1 xref: ENSEMBL:ENSG00000148356 xref: GENATLAS:LRSAM1 xref: HGNC:25135 xref: OMIM:610933 xref: REACTOME:Q6UWE0 xref: UNIPROTKB/SWISSPROT:Q6UWE0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:300319 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Charcot-Marie-Tooth disease type 2P property_value: alternative:term "FLJ31641" xsd:string property_value: symbol "LRSAM1" xsd:string [Term] id: Orphanet:303024 name: SPARC related modular calcium binding 2 xref: ENSEMBL:ENSG00000112562 xref: GENATLAS:SMOC2 xref: HGNC:20323 xref: OMIM:607223 xref: UNIPROTKB/SWISSPROT:Q9H3U7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314721 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atypical dentin dysplasia due to SMOC2 deficiency property_value: alternative:term "SMAP2" xsd:string property_value: symbol "SMOC2" xsd:string [Term] id: Orphanet:303028 name: glutamate receptor interacting protein 1 xref: ENSEMBL:ENSG00000155974 xref: GENATLAS:GRIP1 xref: HGNC:18708 xref: OMIM:604597 xref: REACTOME:Q9Y3R0 xref: UNIPROTKB/SWISSPROT:Q9Y3R0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2052 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fraser syndrome property_value: symbol "GRIP1" xsd:string [Term] id: Orphanet:303168 name: LPS-responsive vesicle trafficking, beach and anchor containing xref: ENSEMBL:ENSG00000198589 xref: GENATLAS:LRBA xref: HGNC:1742 xref: OMIM:606453 xref: UNIPROTKB/SWISSPROT:P50851 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1572 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Common variable immunodeficiency property_value: alternative:term "BGL" xsd:string property_value: alternative:term "CDC4L" xsd:string property_value: alternative:term "LAB300" xsd:string property_value: alternative:term "LBA" xsd:string property_value: symbol "LRBA" xsd:string [Term] id: Orphanet:303176 name: piezo-type mechanosensitive ion channel component 1 xref: ENSEMBL:ENSG00000103335 xref: GENATLAS:FAM38A xref: HGNC:28993 xref: OMIM:611184 xref: UNIPROTKB/SWISSPROT:Q92508 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3202 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dehydrated hereditary stomatocytosis property_value: alternative:term "FAM38A" xsd:string property_value: alternative:term "Family with sequence similarity 38, member A" xsd:string property_value: alternative:term "KIAA0233" xsd:string property_value: symbol "PIEZO1" xsd:string [Term] id: Orphanet:3032 name: NPHP3-related Meckel-like syndrome xref: OMIM:267010 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:269546 ! Syndrome with a Dandy-Walker malformation as major feature relationship: part_of Orphanet:269570 ! Genetic syndrome with a Dandy-Walker malformation as major feature relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Goldston syndrome" xsd:string property_value: alternative:term "Meckel syndrome type 7" xsd:string property_value: alternative:term "Meckel-like syndrome type 1" xsd:string property_value: alternative:term "Renal-hepatic-pancreatic dysplasia - Dandy-Walker cysts" xsd:string [Term] id: Orphanet:3033 name: Renal tubular dysgenesis xref: ICD10:Q63.8 xref: OMIM:267430 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93546 ! Nonsyndromic renal or urinary tract malformation property_value: alternative:term "Primitive renal tubule syndrome" xsd:string property_value: alternative:term "Renotubular dysgenesis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS; see this term) or inherited in an autosomal recessive manner." xsd:string [Term] id: Orphanet:3034 name: Delayed membranous cranial ossification xref: ICD10:Q75.8 xref: OMIM:155980 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:183542 ! Genetic cranial malformation relationship: part_of Orphanet:93451 ! Cleidocranial dysplasia and isolated cranial ossification defect relationship: part_of Orphanet:98038 ! Cranial malformation property_value: alternative:term "Gonzales-del Angel syndrome" xsd:string [Term] id: Orphanet:3035 name: Growth delay - hydrocephaly - lung hypoplasia xref: OMIM:236640 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:108995 ! Syndromic respiratory or mediastinal malformation relationship: part_of Orphanet:182111 ! Respiratory malformation relationship: part_of Orphanet:183622 ! Genetic respiratory malformation property_value: alternative:term "Game-Friedman-Paradice syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities." xsd:string [Term] id: Orphanet:303711 name: leucine zipper transcription factor-like 1 xref: ENSEMBL:ENSG00000163818 xref: GENATLAS:LZTFL1 xref: HGNC:6741 xref: OMIM:606568 xref: UNIPROTKB/SWISSPROT:Q9NQ48 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bardet-Biedl syndrome property_value: alternative:term "BBS17" xsd:string property_value: symbol "LZTFL1" xsd:string [Term] id: Orphanet:303717 name: RAB40A, member RAS oncogene family-like xref: ENSEMBL:ENSG00000102128 xref: GENATLAS:RAB40AL xref: HGNC:25410 xref: OMIM:300405 xref: UNIPROTKB/SWISSPROT:P0C0E4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:85321 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Deafness - intellectual deficit, Martin-Probst type property_value: alternative:term "RAR2" xsd:string property_value: alternative:term "Ras like GTPase" xsd:string property_value: alternative:term "RLGP" xsd:string property_value: symbol "RAB40AL" xsd:string [Term] id: Orphanet:303726 name: coiled-coil domain containing 103 xref: ENSEMBL:ENSG00000167131 xref: GENATLAS:CCDC103 xref: HGNC:32700 xref: OMIM:614677 xref: UNIPROTKB/SWISSPROT:Q8IW40 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "CILD17" xsd:string property_value: alternative:term "FLJ13094" xsd:string property_value: alternative:term "FLJ34211" xsd:string property_value: alternative:term "PR46b" xsd:string property_value: symbol "CCDC103" xsd:string [Term] id: Orphanet:303739 name: KAT8 regulatory NSL complex subunit 1 xref: ENSEMBL:ENSG00000120071 xref: GENATLAS:KANSL1 xref: HGNC:24565 xref: OMIM:612452 xref: REACTOME:Q7Z3B3 xref: UNIPROTKB/SWISSPROT:Q7Z3B3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:363958 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 17q21.31 microdeletion syndrome relationship: Orphanet:317349 Orphanet:363965 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Koolen-De Vries syndrome due to a point mutation property_value: alternative:term "CENP-36" xsd:string property_value: alternative:term "Centromere protein 36" xsd:string property_value: alternative:term "DKFZP727C091" xsd:string property_value: alternative:term "KIAA1267" xsd:string property_value: alternative:term "MSL1v1" xsd:string property_value: alternative:term "NSL1" xsd:string property_value: symbol "KANSL1" xsd:string [Term] id: Orphanet:303747 name: exosome component 3 xref: ENSEMBL:ENSG00000107371 xref: GENATLAS:EXOSC3 xref: HGNC:17944 xref: OMIM:606489 xref: REACTOME:Q9NQT5 xref: UNIPROTKB/SWISSPROT:Q9NQT5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2254 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pontocerebellar hypoplasia type 1 property_value: alternative:term "CGI-102" xsd:string property_value: alternative:term "CGI-102 protein" xsd:string property_value: alternative:term "Exosome component Rrp40" xsd:string property_value: alternative:term "hRrp-40" xsd:string property_value: alternative:term "hRrp40p" xsd:string property_value: alternative:term "p10" xsd:string property_value: alternative:term "RRP40" xsd:string property_value: alternative:term "Rrp40p" xsd:string property_value: symbol "EXOSC3" xsd:string [Term] id: Orphanet:303758 name: gremlin 1, DAN family BMP antagonist xref: ENSEMBL:ENSG00000166923 xref: GENATLAS:GREM1 xref: HGNC:2001 xref: OMIM:603054 xref: UNIPROTKB/SWISSPROT:O60565 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:157794 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary mixed polyposis syndrome property_value: alternative:term "CKTSF1B1" xsd:string property_value: alternative:term "Cysteine knot superfamily 1, BMP antagonist 1" xsd:string property_value: alternative:term "DAND2" xsd:string property_value: alternative:term "DRM" xsd:string property_value: alternative:term "Gremlin" xsd:string property_value: alternative:term "Gremlin 1" xsd:string property_value: alternative:term "Gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis)" xsd:string property_value: symbol "GREM1" xsd:string [Term] id: Orphanet:3038 name: Delayed speech - facial asymmetry - strabismus - ear lobe creases xref: ICD10:Q87.0 xref: OMIM:182875 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Mehes syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases." xsd:string [Term] id: Orphanet:303801 name: kelch-like family member 3 xref: ENSEMBL:ENSG00000146021 xref: GENATLAS:KLHL3 xref: HGNC:6354 xref: OMIM:605775 xref: UNIPROTKB/SWISSPROT:Q9UH77 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:300525 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pseudohypoaldosteronism type 2D property_value: alternative:term "Kelch (Drosophila)-like 3" xsd:string property_value: alternative:term "Kelch-like 3 (Drosophila)" xsd:string property_value: alternative:term "KIAA1129" xsd:string property_value: symbol "KLHL3" xsd:string [Term] id: Orphanet:303805 name: cullin 3 xref: ENSEMBL:ENSG00000036257 xref: GENATLAS:CUL3 xref: HGNC:2553 xref: OMIM:603136 xref: REACTOME:Q13618 xref: UNIPROTKB/SWISSPROT:Q13618 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:300530 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pseudohypoaldosteronism type 2E property_value: symbol "CUL3" xsd:string [Term] id: Orphanet:303807 name: histidyl-tRNA synthetase xref: ENSEMBL:ENSG00000170445 xref: GENATLAS:HARS xref: HGNC:4816 xref: OMIM:142810 xref: REACTOME:P12081 xref: UNIPROTKB/SWISSPROT:P12081 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231183 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Usher syndrome type 3 property_value: alternative:term "Histidine tRNA ligase 1, cytoplasmic" xsd:string property_value: symbol "HARS" xsd:string [Term] id: Orphanet:303819 name: phospholipase C, gamma 2 (phosphatidylinositol-specific) xref: ENSEMBL:ENSG00000197943 xref: GENATLAS:PLCG2 xref: HGNC:9066 xref: OMIM:600220 xref: REACTOME:P16885 xref: UNIPROTKB/SWISSPROT:P16885 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:300359 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! PLCG2-associated antibody deficiency and immune dysregulation relationship: Orphanet:317343 Orphanet:324530 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation property_value: symbol "PLCG2" xsd:string [Term] id: Orphanet:303823 name: CASP2 and RIPK1 domain containing adaptor with death domain xref: ENSEMBL:ENSG00000169372 xref: GENATLAS:CRADD xref: HGNC:2340 xref: OMIM:603454 xref: UNIPROTKB/SWISSPROT:P78560 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88616 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive nonsyndromic intellectual deficit property_value: alternative:term "RAIDD" xsd:string property_value: alternative:term "RIP-associated ICH1/CED3-homologous protein with death domain" xsd:string property_value: symbol "CRADD" xsd:string [Term] id: Orphanet:303828 name: glycerol-3-phosphate dehydrogenase 1 (soluble) xref: ENSEMBL:ENSG00000167588 xref: GENATLAS:GPD1 xref: HGNC:4455 xref: OMIM:138420 xref: REACTOME:P21695 xref: UNIPROTKB/SWISSPROT:P21695 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:300293 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile regressive hypertriglyceridemia and hepatosteatosis property_value: symbol "GPD1" xsd:string [Term] id: Orphanet:303832 name: dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic) xref: ENSEMBL:ENSG00000244038 xref: GENATLAS:DDOST xref: HGNC:2728 xref: OMIM:602202 xref: REACTOME:P39656 xref: UNIPROTKB/SWISSPROT:P39656 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:300536 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! DDOST-CDG property_value: alternative:term "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase" xsd:string property_value: alternative:term "Dolichyl-diphosphooligosaccharide-protein glycosyltransferase" xsd:string property_value: alternative:term "KIAA0115" xsd:string property_value: alternative:term "oligosaccharyltransferase subunit 48" xsd:string property_value: alternative:term "OST" xsd:string property_value: alternative:term "OST48" xsd:string property_value: alternative:term "WBP1" xsd:string property_value: symbol "DDOST" xsd:string [Term] id: Orphanet:30391 name: Biliary atresia xref: ICD10:Q44.2 xref: MEDDRA:10003650 xref: MESH:D001656 xref: OMIM:210500 xref: SNOMED CT:77480004 xref: UMLS:C0005411 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:101941 ! Rare biliary tract disease relationship: part_of Orphanet:108971 ! Nonsyndromic visceral malformation property_value: alternative:term "Atresia of bile ducts" xsd:string property_value: alternative:term "Non-syndromic biliary atresia" xsd:string [Term] id: Orphanet:304 name: Epidermolysis bullosa simplex xref: ICD10:Q81.0 is_a: Orphanet:79361 ! Inherited epidermolysis bullosa relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "EBS" xsd:string property_value: alternative:term "EEB" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma." xsd:string [Term] id: Orphanet:304005 name: tubulin, gamma complex associated protein 6 xref: ENSEMBL:ENSG00000128159 xref: GENATLAS:TUBGCP6 xref: HGNC:18127 xref: OMIM:610053 xref: REACTOME:Q96RT7 xref: UNIPROTKB/SWISSPROT:Q96RT7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2518 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive chorioretinopathy-microcephaly property_value: alternative:term "DJ402G11.6" xsd:string property_value: alternative:term "Gamma-tubulin complex component 6" xsd:string property_value: alternative:term "GCP6" xsd:string property_value: alternative:term "KIAA1669" xsd:string property_value: symbol "TUBGCP6" xsd:string [Term] id: Orphanet:304055 name: Pituitary tumor is_a: Orphanet:182130 ! Tumor of endocrine glands [Term] id: Orphanet:304075 name: nicotinamide nucleotide transhydrogenase xref: ENSEMBL:ENSG00000112992 xref: GENATLAS:NNT xref: HGNC:7863 xref: OMIM:607878 xref: REACTOME:Q13423 xref: UNIPROTKB/SWISSPROT:Q13423 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:361 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial glucocorticoid deficiency property_value: symbol "NNT" xsd:string [Term] id: Orphanet:3041 name: Intellectual deficit - balding - patella luxation - acromicria xref: ICD10:Q87.8 xref: OMIM:181515 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:93436 ! Acromelic dysplasia property_value: alternative:term "Scholte-Begeer-van Essen syndrome" xsd:string [Term] id: Orphanet:304165 name: FK506 binding protein 14, 22 kDa xref: ENSEMBL:ENSG00000106080 xref: GENATLAS:FKBP14 xref: HGNC:18625 xref: OMIM:614505 xref: REACTOME:Q9NWM8 xref: UNIPROTKB/SWISSPROT:Q9NWM8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:300179 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos syndrome, kyphoscoliotic and deafness type property_value: alternative:term "FK506 binding protein 14 (22 kDa)" xsd:string property_value: alternative:term "FKBP22" xsd:string property_value: alternative:term "FLJ20731" xsd:string property_value: symbol "FKBP14" xsd:string [Term] id: Orphanet:304172 name: procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 xref: ENSEMBL:ENSG00000106397 xref: GENATLAS:PLOD3 xref: HGNC:9083 xref: OMIM:603066 xref: REACTOME:O60568 xref: UNIPROTKB/SWISSPROT:O60568 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:300284 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Connective tissue disorder due to lysyl hydroxylase-3 deficiency property_value: alternative:term "LH3" xsd:string property_value: alternative:term "Lysyl hydroxlase 3" xsd:string property_value: symbol "PLOD3" xsd:string [Term] id: Orphanet:304191 name: GATA binding protein 5 xref: ENSEMBL:ENSG00000130700 xref: GENATLAS:GATA5 xref: HGNC:15802 xref: OMIM:611496 xref: REACTOME:Q9BWX5 xref: UNIPROTKB/SWISSPROT:Q9BWX5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1480 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ventricular septal defect relationship: Orphanet:317345 Orphanet:3303 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Tetralogy of Fallot relationship: Orphanet:317345 Orphanet:334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial atrial fibrillation property_value: alternative:term "bB379O24.1" xsd:string property_value: alternative:term "GATA-binding protein 5" xsd:string property_value: alternative:term "GATAS" xsd:string property_value: symbol "GATA5" xsd:string [Term] id: Orphanet:3042 name: Intellectual deficit - cataracts - calcified pinnae - myopathy xref: OMIM:259050 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Primrose syndrome" xsd:string [Term] id: Orphanet:304234 name: RAD21 homolog (S. pombe) xref: ENSEMBL:ENSG00000164754 xref: GENATLAS:RAD21 xref: HGNC:9811 xref: OMIM:606462 xref: REACTOME:O60216 xref: UNIPROTKB/SWISSPROT:O60216 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:199 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cornelia de Lange syndrome property_value: alternative:term "hHR21" xsd:string property_value: alternative:term "KIAA0078" xsd:string property_value: alternative:term "RAD21 (S. pombe) homolog" xsd:string property_value: alternative:term "SCC1" xsd:string property_value: alternative:term "sister chromatid cohesion 1" xsd:string property_value: symbol "RAD21" xsd:string [Term] id: Orphanet:304242 name: triadin xref: ENSEMBL:ENSG00000186439 xref: GENATLAS:TRDN xref: HGNC:12261 xref: OMIM:603283 xref: REACTOME:Q13061 xref: UNIPROTKB/SWISSPROT:Q13061 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3286 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Catecholaminergic polymorphic ventricular tachycardia property_value: symbol "TRDN" xsd:string [Term] id: Orphanet:304247 name: CD151 molecule (Raph blood group) xref: ENSEMBL:ENSG00000177697 xref: GENATLAS:CD151 xref: HGNC:1630 xref: OMIM:602243 xref: REACTOME:P48509 xref: UNIPROTKB/SWISSPROT:P48509 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:300333 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome property_value: alternative:term "CD151 antigen" xsd:string property_value: alternative:term "CD151 antigen (Raph blood group)" xsd:string property_value: alternative:term "PETA-3" xsd:string property_value: alternative:term "RAPH" xsd:string property_value: alternative:term "SFA-1" xsd:string property_value: alternative:term "TSPAN24" xsd:string property_value: symbol "CD151" xsd:string [Term] id: Orphanet:304263 name: ADAM metallopeptidase with thrombospondin type 1 motif, 17 xref: ENSEMBL:ENSG00000140470 xref: GENATLAS:ADAMTS17 xref: HGNC:17109 xref: OMIM:607511 xref: UNIPROTKB/SWISSPROT:Q8TE56 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3449 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Weill-Marchesani syndrome property_value: alternative:term "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17" xsd:string property_value: alternative:term "FLJ16363" xsd:string property_value: alternative:term "FLJ32769" xsd:string property_value: symbol "ADAMTS17" xsd:string [Term] id: Orphanet:3044 name: Intellectual deficit - dysmorphism - hypogonadism - diabetes mellitus xref: OMIM:249599 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:304455 name: GATA zinc finger domain containing 1 xref: ENSEMBL:ENSG00000157259 xref: GENATLAS:GATAD1 xref: HGNC:29941 xref: OMIM:614518 xref: UNIPROTKB/SWISSPROT:Q8WUU5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy property_value: alternative:term "FLJ22489" xsd:string property_value: alternative:term "Ocular development associated gene" xsd:string property_value: alternative:term "ODAG" xsd:string property_value: alternative:term "RG083M05.2" xsd:string property_value: symbol "GATAD1" xsd:string [Term] id: Orphanet:304486 name: diaphanous-related formin 3 xref: ENSEMBL:ENSG00000139734 xref: GENATLAS:DIAPH3 xref: HGNC:15480 xref: OMIM:614567 xref: UNIPROTKB/SWISSPROT:Q9NSV4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA property_value: alternative:term "AN" xsd:string property_value: alternative:term "Auditory neuropathy, autosomal dominant 1" xsd:string property_value: alternative:term "AUNA1" xsd:string property_value: alternative:term "Diaphanous (Drosophila, homolog) 3" xsd:string property_value: alternative:term "Diaphanous homolog 3 (Drosophila)" xsd:string property_value: alternative:term "DRF3" xsd:string property_value: alternative:term "FLJ34705" xsd:string property_value: alternative:term "NSDAN" xsd:string property_value: symbol "DIAPH3" xsd:string [Term] id: Orphanet:304648 name: phosphatidylinositol glycan anchor biosynthesis, class O xref: ENSEMBL:ENSG00000165282 xref: GENATLAS:PIGO xref: HGNC:23215 xref: OMIM:614730 xref: REACTOME:Q8TEQ8 xref: UNIPROTKB/SWISSPROT:Q8TEQ8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:247262 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperphosphatasia-intellectual deficiency syndrome property_value: alternative:term "DKFZp434M222" xsd:string property_value: alternative:term "FLJ00135" xsd:string property_value: alternative:term "Phosphatidylinositol glycan, class O" xsd:string property_value: symbol "PIGO" xsd:string [Term] id: Orphanet:304678 name: solute carrier family 52 (riboflavin transporter), member 2 xref: GENATLAS:GPR172A xref: HGNC:30224 xref: OMIM:607882 xref: UNIPROTKB/SWISSPROT:Q9HAB3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:97229 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Riboflavin transporter deficiency property_value: alternative:term "D15Ertd747e" xsd:string property_value: alternative:term "FLJ11856" xsd:string property_value: alternative:term "G protein-coupled receptor 172A" xsd:string property_value: alternative:term "GPCR41" xsd:string property_value: alternative:term "GPR172A" xsd:string property_value: alternative:term "hRFT3" xsd:string property_value: alternative:term "PAR1" xsd:string property_value: alternative:term "RFVT2" xsd:string property_value: alternative:term "Solute carrier family 52, riboflavin transporter, member 2" xsd:string property_value: symbol "SLC52A2" xsd:string [Term] id: Orphanet:304694 name: caspase recruitment domain family, member 14 xref: ENSEMBL:ENSG00000141527 xref: GENATLAS:CARD14 xref: HGNC:16446 xref: OMIM:607211 xref: UNIPROTKB/SWISSPROT:Q9BXL6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2897 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pityriasis rubra pilaris property_value: alternative:term "BIMP2" xsd:string property_value: alternative:term "CARMA2" xsd:string property_value: symbol "CARD14" xsd:string [Term] id: Orphanet:3047 name: Blepharophimosis-intellectual deficit syndrome, SBBYS type xref: OMIM:603736 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:177107 ! Syndromic hypothyroidism relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:293642 ! Blepharophimosis-intellectual deficit syndrome property_value: alternative:term "Hypothyroidism - dysmorphism - postaxial polydactyly - intellectual deficit" xsd:string property_value: alternative:term "Say-Barber-Biesecker-Young-Simpson syndrome" xsd:string property_value: alternative:term "SBBYSS" xsd:string [Term] id: Orphanet:304764 name: spermatogenesis and oogenesis specific basic helix-loop-helix 1 xref: ENSEMBL:ENSG00000165643 xref: GENATLAS:SOHLH1 xref: HGNC:27845 xref: OMIM:610224 xref: UNIPROTKB/SWISSPROT:Q5JUK2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:217034 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Male infertility with normal virilization due to meiosis defect property_value: alternative:term "bA100C15.3" xsd:string property_value: alternative:term "bHLHe80" xsd:string property_value: alternative:term "C9orf157" xsd:string property_value: alternative:term "Chromosome 9 open reading frame 157" xsd:string property_value: alternative:term "NOHLH" xsd:string property_value: alternative:term "SPATA27" xsd:string property_value: alternative:term "spermatogenesis associated 27" xsd:string property_value: alternative:term "TEB2" xsd:string property_value: symbol "SOHLH1" xsd:string [Term] id: Orphanet:304804 name: nuclear receptor subfamily 1, group H, member 4 xref: ENSEMBL:ENSG00000012504 xref: GENATLAS:NR1H4 xref: HGNC:7967 xref: IUPHAR:603 xref: OMIM:603826 xref: REACTOME:Q96RI1 xref: UNIPROTKB/SWISSPROT:Q96RI1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:69665 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intrahepatic cholestasis of pregnancy property_value: alternative:term "FXR" xsd:string property_value: alternative:term "HRR-1" xsd:string property_value: alternative:term "HRR1" xsd:string property_value: alternative:term "RIP14" xsd:string property_value: symbol "NR1H4" xsd:string [Term] id: Orphanet:305 name: Junctional epidermolysis bullosa xref: MESH:D016109 xref: SNOMED CT:399971009 xref: UMLS:C0079301 is_a: Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement is_a: Orphanet:79361 ! Inherited epidermolysis bullosa is_a: Orphanet:98027 ! Rare disease with odontological manifestation relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 property_value: alternative:term "EBJ" xsd:string property_value: alternative:term "Epidermolysis bullosa atrophicans" xsd:string property_value: alternative:term "JEB" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa (see this term) characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation." xsd:string [Term] id: Orphanet:3050 name: Intellectual deficit - hypotonia - skin hyperpigmentation is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Medrano-Roldan syndrome" xsd:string [Term] id: Orphanet:3051 name: Intellectual deficit - sparse hair - brachydactyly xref: OMIM:601358 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Nicolaides-Baraitser syndrome" xsd:string [Term] id: Orphanet:3052 name: Intellectual deficit, X-linked - seizures - psoriasis xref: OMIM:309480 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Tranebjaerg-Svejgaard syndrome" xsd:string [Term] id: Orphanet:3055 name: Intellectual deficit, X-linked - short stature - obesity is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Young-Hugues syndrome" xsd:string [Term] id: Orphanet:3056 name: Intellectual deficit, X-linked, Brooks type xref: OMIM:300612 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:3057 name: Monoamine oxidase A deficiency xref: ICD10:E70.8 xref: ICD10:F54 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182076 ! Syndromic neurometabolic disease with X-linked intellectual deficit relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79169 ! Disorder of neurotransmitter metabolism and transport property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood." xsd:string [Term] id: Orphanet:3059 name: Intellectual deficit, X-linked, Gu type is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "MRX35" xsd:string [Term] id: Orphanet:306 name: Benign familial infantile seizures xref: ICD10:G40.3 xref: OMIM:601764 xref: OMIM:605751 xref: OMIM:607745 xref: OMIM:612627 is_a: Orphanet:166311 ! Benign partial infantile seizures is_a: Orphanet:166475 ! Idiopathic or cryptogenic familial epileptic syndrome with identified loci/genes relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Benign familial infantile convulsions" xsd:string property_value: alternative:term "Benign familial infantile epilepsy" xsd:string property_value: alternative:term "BFIE" xsd:string property_value: alternative:term "BFIS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Benign familial infantile epilepsy (BFIE) is a geneticepileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life." xsd:string [Term] id: Orphanet:306073 name: sortilin-related receptor, L(DLR class) A repeats containing xref: ENSEMBL:ENSG00000137642 xref: GENATLAS:SORL1 xref: HGNC:11185 xref: OMIM:602005 xref: UNIPROTKB/SWISSPROT:Q92673 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1020 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early-onset autosomal dominant Alzheimer disease property_value: alternative:term "C11orf32" xsd:string property_value: alternative:term "Chromosome 11 open reading frame 32" xsd:string property_value: alternative:term "gp250" xsd:string property_value: alternative:term "LR11" xsd:string property_value: alternative:term "LRP9" xsd:string property_value: alternative:term "SorLA" xsd:string property_value: alternative:term "SorLA-1" xsd:string property_value: alternative:term "Sortilin-related receptor, L(DLR class) A repeats-containing" xsd:string property_value: symbol "SORL1" xsd:string [Term] id: Orphanet:3061 name: Intellectual deficit, X-linked, Raynaud type is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:306100 name: KIAA1377 xref: ENSEMBL:ENSG00000110318 xref: GENATLAS:KIAA1377 xref: HGNC:29264 xref: OMIM:614634 xref: UNIPROTKB/SWISSPROT:Q9P2H0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:65684 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Monomelic amyotrophy property_value: symbol "KIAA1377" xsd:string [Term] id: Orphanet:306106 name: coiled-coil domain containing 11 xref: ENSEMBL:ENSG00000172361 xref: GENATLAS:CCDC11 xref: HGNC:26530 xref: OMIM:614759 xref: UNIPROTKB/SWISSPROT:Q96M91 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101063 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Situs inversus totalis relationship: Orphanet:317343 Orphanet:157769 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Situs ambiguus property_value: alternative:term "FLJ32743" xsd:string property_value: symbol "CCDC11" xsd:string [Term] id: Orphanet:306110 name: matrix metallopeptidase 1 (interstitial collagenase) xref: ENSEMBL:ENSG00000196611 xref: GENATLAS:MMP1 xref: HGNC:7155 xref: IUPHAR:1628 xref: OMIM:120353 xref: REACTOME:P03956 xref: UNIPROTKB/SWISSPROT:P03956 is_a: Orphanet:C010 ! gene relationship: Orphanet:317346 Orphanet:79408 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Severe generalized recessive dystrophic epidermolysis bullosa property_value: alternative:term "CLG" xsd:string property_value: alternative:term "Matrix metalloproteinase 1 (interstitial collagenase)" xsd:string property_value: symbol "MMP1" xsd:string [Term] id: Orphanet:306122 name: phosphoinositide-3-kinase, regulatory subunit 2 (beta) xref: ENSEMBL:ENSG00000105647 xref: GENATLAS:PIK3R2 xref: HGNC:8980 xref: OMIM:603157 xref: REACTOME:O00459 xref: UNIPROTKB/SWISSPROT:O00459 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:83473 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus property_value: alternative:term "p85" xsd:string property_value: alternative:term "P85B" xsd:string property_value: symbol "PIK3R2" xsd:string [Term] id: Orphanet:306169 name: dystonia 15, myoclonic xref: HGNC:31376 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:36899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myoclonus-dystonia syndrome property_value: symbol "DYT15" xsd:string [Term] id: Orphanet:306172 name: tubulin, beta 4A class IVa xref: ENSEMBL:ENSG00000104833 xref: GENATLAS:TUBB4 xref: HGNC:20774 xref: OMIM:602662 xref: REACTOME:P04350 xref: UNIPROTKB/SWISSPROT:P04350 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:139441 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypomyelination with atrophy of basal ganglia and cerebellum relationship: Orphanet:317343 Orphanet:98805 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary dystonia, DYT4 type property_value: alternative:term "beta-5" xsd:string property_value: alternative:term "Class IVa beta-tubulin" xsd:string property_value: alternative:term "TUBB4" xsd:string property_value: alternative:term "Tubulin, beta 4" xsd:string property_value: alternative:term "Tubulin, beta 4 class IVa" xsd:string property_value: symbol "TUBB4A" xsd:string [Term] id: Orphanet:306182 name: dystonia 2, torsion (autosomal recessive) xref: HGNC:3102 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:99657 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary dystonia, DYT2 type property_value: symbol "DYT2" xsd:string [Term] id: Orphanet:306184 name: dystonia 17 xref: HGNC:35416 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:370103 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary dystonia, DYT17 type property_value: symbol "DYT17" xsd:string [Term] id: Orphanet:306189 name: E74-like factor 4 (ets domain transcription factor) xref: ENSEMBL:ENSG00000102034 xref: GENATLAS:ELF4 xref: HGNC:3319 xref: OMIM:300775 xref: UNIPROTKB/SWISSPROT:Q99607 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:632 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia property_value: alternative:term "ELFR" xsd:string property_value: alternative:term "MEF" xsd:string property_value: symbol "ELF4" xsd:string [Term] id: Orphanet:3062 name: Intellectual deficit, X-linked, Schutz type is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:3063 name: Intellectual deficit, X-linked, Snyder type xref: OMIM:309583 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Snyder-Robinson syndrome" xsd:string [Term] id: Orphanet:3064 name: Intellectual deficit, X-linked, Wittner type is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:306416 name: protein tyrosine phosphatase, non-receptor type 2 xref: ENSEMBL:ENSG00000175354 xref: GENATLAS:PTPN2 xref: HGNC:9650 xref: OMIM:176887 xref: REACTOME:P17706 xref: UNIPROTKB/SWISSPROT:P17706 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:85408 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Juvenile rheumatoid factor-negative polyarthritis relationship: Orphanet:317345 Orphanet:85410 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Oligoarticular juvenile arthritis property_value: alternative:term "PTPT" xsd:string property_value: alternative:term "TC-PTP" xsd:string property_value: alternative:term "TCELLPTP" xsd:string property_value: alternative:term "TCPTP" xsd:string property_value: symbol "PTPN2" xsd:string [Term] id: Orphanet:306431 name: Acquired adult-onset immunodeficiency is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:310050 ! Acquired immunodeficiency property_value: alternative:term "Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies" xsd:string [Term] id: Orphanet:306436 name: Congenital sucrase-isomaltase deficiency with starch intolerance xref: ICD10:E74.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:35122 ! Congenital sucrase-isomaltase deficiency property_value: alternative:term "Congenital sucrase-isomaltose malabsorption with starch intolerance" xsd:string property_value: alternative:term "Congenital sucrose intolerance with starch intolerance" xsd:string property_value: alternative:term "CSID with starch intolerance" xsd:string property_value: alternative:term "Disaccharide intolerance with starch intolerance" xsd:string [Term] id: Orphanet:306446 name: Congenital sucrase-isomaltase deficiency with minimal starch tolerance xref: ICD10:E74.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:35122 ! Congenital sucrase-isomaltase deficiency property_value: alternative:term "Congenital sucrase-isomaltose malabsorption with minimal starch tolerance" xsd:string property_value: alternative:term "Congenital sucrose intolerance with minimal starch tolerance" xsd:string property_value: alternative:term "CSID with minimal starch tolerance" xsd:string property_value: alternative:term "Disaccharide intolerance with minimal starch tolerance" xsd:string [Term] id: Orphanet:306462 name: Congenital sucrase-isomaltase deficiency without starch intolerance xref: ICD10:E74.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:35122 ! Congenital sucrase-isomaltase deficiency property_value: alternative:term "Congenital sucrase-isomaltose malabsorption without starch intolerance" xsd:string property_value: alternative:term "Congenital sucrose intolerance without starch intolerance" xsd:string property_value: alternative:term "CSID without starch intolerance" xsd:string property_value: alternative:term "Disaccharide intolerance without starch intolerance" xsd:string [Term] id: Orphanet:306474 name: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance xref: ICD10:E74.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:35122 ! Congenital sucrase-isomaltase deficiency property_value: alternative:term "Congenital sucrase-isomaltose malabsorption with starch and lactose intolerance" xsd:string property_value: alternative:term "Congenital sucrose intolerance with starch and lactose intolerance" xsd:string property_value: alternative:term "CSID with starch and lactose intolerance" xsd:string property_value: alternative:term "Disaccharide intolerance with starch and lactose intolerance" xsd:string [Term] id: Orphanet:306486 name: Congenital sucrase-isomaltase deficiency without sucrose intolerance xref: ICD10:E74.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:35122 ! Congenital sucrase-isomaltase deficiency property_value: alternative:term "Congenital sucrase-isomaltose malabsorption without sucrose intolerance" xsd:string property_value: alternative:term "Congenital sucrose intolerance without sucrose intolerance" xsd:string property_value: alternative:term "CSID without sucrose intolerance" xsd:string property_value: alternative:term "Disaccharide intolerance without sucrose intolerance" xsd:string [Term] id: Orphanet:306498 name: PTEN hamartoma tumor syndrome is_a: Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer is_a: Orphanet:79386 ! Rare skin tumor or hamartoma is_a: Orphanet:98196 ! Malformation syndrome with hamartosis property_value: alternative:term "PHTS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS." xsd:string [Term] id: Orphanet:3065 name: Intellectual deficit, X-linked - monoamine oxidase A metabolism anomaly is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_3057 with label: Monoamine oxidase A deficiency" xsd:string [Term] id: Orphanet:306504 name: Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome xref: OMIM:614748 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:264670 ! Primary interstitial lung disease specific to childhood due to alveolar structure disorder relationship: part_of Orphanet:264992 ! Genetic interstitial lung disease relationship: part_of Orphanet:305 ! Junctional epidermolysis bullosa relationship: part_of Orphanet:93550 ! Basement membrane disease [Term] id: Orphanet:306507 name: LAMB-2-related infantile-onset nephrotic syndrome xref: ICD10:N04 xref: OMIM:614199 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:97556 ! Congenital and infantile nephrotic syndrome [Term] id: Orphanet:306511 name: Autosomal recessive spastic paraplegia type 48 xref: ICD10:G11.4 xref: OMIM:613647 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:320346 ! Pure or complex autosomal recessive spastic paraplegia property_value: alternative:term "SPG48" xsd:string [Term] id: Orphanet:306516 name: Familial primary hypomagnesemia with hypercalcuria xref: ICD10:E83.4 is_a: Orphanet:34526 ! Familial primary hypomagnesemia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH; see this term) characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment." xsd:string [Term] id: Orphanet:306519 name: Familial primary hypomagnesemia with hypocalcuria is_a: Orphanet:34526 ! Familial primary hypomagnesemia [Term] id: Orphanet:306522 name: Familial primary hypomagnesemia with normocalcuria xref: ICD10:E83.4 is_a: Orphanet:34526 ! Familial primary hypomagnesemia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH; see this term) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type (see these terms)." xsd:string [Term] id: Orphanet:306527 name: Isolated hereditary congenital facial paralysis xref: ICD10:Q87.0 xref: OMIM:601471 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:156224 ! Paralytic facial malformation relationship: part_of Orphanet:98518 ! Cranial nerve and nuclear aplasia [Term] id: Orphanet:306530 name: Congenital hereditary facial paralysis with variable hearing loss xref: ICD10:Q87.0 xref: OMIM:604185 xref: OMIM:614744 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:156224 ! Paralytic facial malformation relationship: part_of Orphanet:98518 ! Cranial nerve and nuclear aplasia property_value: alternative:term "Congenital hereditary facial palsy with variable deafness" xsd:string property_value: alternative:term "Congenital hereditary facial palsy with variable hearing loss" xsd:string property_value: alternative:term "Congenital hereditary facial paralysis with variable deafness" xsd:string [Term] id: Orphanet:306539 name: Hereditary acrokeratotic poikiloderma of Kindler-Weary xref: OMIM:173650 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183490 ! Genetic photodermatosis relationship: part_of Orphanet:79390 ! Rare photodermatosis [Term] id: Orphanet:306542 name: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome xref: OMIM:613456 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:93453 ! Dysostosis with predominant craniofacial involvement property_value: alternative:term "ALX1-related frontonasal dysplasia" xsd:string [Term] id: Orphanet:306547 name: Porencephaly-microcephaly-bilateral congenital cataract syndrome xref: OMIM:613730 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature relationship: part_of Orphanet:269564 ! Genetic syndrome with a central nervous system malformation as major feature [Term] id: Orphanet:306550 name: FADD-related immunodeficiency xref: OMIM:613759 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:169355 ! Immunodeficiency syndrome with autoimmunity [Term] id: Orphanet:306553 name: Myospherulosis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:165711 ! Rare abdominal surgical disease relationship: part_of Orphanet:68329 ! Rare maxillo-facial surgical disease property_value: alternative:term "Spherulocytosis" xsd:string [Term] id: Orphanet:306558 name: Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome xref: OMIM:614231 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:166478 ! Cerebral malformation with epilepsy relationship: part_of Orphanet:181381 ! Other rare diabetes mellitus relationship: part_of Orphanet:183625 ! Rare genetic diabetes mellitus relationship: part_of Orphanet:269528 ! Syndrome with microcephaly as major feature relationship: part_of Orphanet:269564 ! Genetic syndrome with a central nervous system malformation as major feature [Term] id: Orphanet:306561 name: Autosomal dominant childhood-onset cortical cataract xref: ICD10:H26.0 is_a: Orphanet:217052 ! Early-onset non-syndromic cataract relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 property_value: alternative:term "Autosomal dominant childhood-onset progressive cortical cataract" xsd:string [Term] id: Orphanet:306577 name: Sodium channelopathy-related small fiber neuropathy xref: OMIM:133020 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98497 ! Genetic peripheral neuropathy [Term] id: Orphanet:306588 name: Autosomal dominant Opitz G/BBB syndrome xref: ICD10:Q87.8 xref: OMIM:145410 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: part_of Orphanet:2745 ! Opitz G/BBB syndrome property_value: alternative:term "ADOS" xsd:string property_value: alternative:term "Autosomal dominant Opitz BBB/G syndrome" xsd:string property_value: alternative:term "Autosomal dominant Opitz syndrome" xsd:string [Term] id: Orphanet:306597 name: X-linked Opitz G/BBB syndrome xref: ICD10:Q87.8 xref: OMIM:300000 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: part_of Orphanet:2745 ! Opitz G/BBB syndrome property_value: alternative:term "X-linked Opitz BBB/G syndrome" xsd:string property_value: alternative:term "X-linked Opitz syndrome" xsd:string property_value: alternative:term "XLOS" xsd:string [Term] id: Orphanet:306617 name: X-linked complicated spastic paraplegia type 1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:275543 ! L1 syndrome property_value: alternative:term "SPG1" xsd:string [Term] id: Orphanet:306633 name: Rare biliary tract cancer is_a: Orphanet:101943 ! Rare hepatic and biliary tract tumor [Term] id: Orphanet:306636 name: Rare hepatic tumor is_a: Orphanet:101943 ! Rare hepatic and biliary tract tumor [Term] id: Orphanet:306640 name: Rare intoxication due to medical products is_a: Orphanet:108999 ! Rare intoxication [Term] id: Orphanet:306648 name: Non-infectious anterior uveitis is_a: Orphanet:280886 ! Anterior uveitis property_value: alternative:term "Non-infectious iridocyclitis" xsd:string [Term] id: Orphanet:306658 name: Normocalcemic tumoral calcinosis xref: ICD10:M11.2 xref: OMIM:610455 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:53715 ! Tumoral calcinosis [Term] id: Orphanet:306661 name: Hypercalcemic tumoral calcinosis xref: ICD10:M11.2 xref: OMIM:211900 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:309458 ! Disorder of O-N-acetylgalactosaminylglycan synthesis relationship: part_of Orphanet:371200 ! Congenital disorder of glycosylation with skin involvement relationship: part_of Orphanet:53715 ! Tumoral calcinosis property_value: alternative:term "GALNT3-CDG" xsd:string [Term] id: Orphanet:306666 name: Rare parkinsonian syndrome due to neurodegenerative disease is_a: Orphanet:68402 ! Rare parkinsonian disorder [Term] id: Orphanet:306669 name: Hemiparkinsonism-hemiatrophy syndrome xref: ICD10:G20 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:306666 ! Rare parkinsonian syndrome due to neurodegenerative disease relationship: part_of Orphanet:307055 ! Rare parkinsonian syndrome due to genetic neurodegenerative disease property_value: alternative:term "HP-HA syndrome" xsd:string [Term] id: Orphanet:306674 name: Kufor-Rakeb syndrome xref: ICD10:G23.0 xref: OMIM:606693 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:306666 ! Rare parkinsonian syndrome due to neurodegenerative disease relationship: part_of Orphanet:307055 ! Rare parkinsonian syndrome due to genetic neurodegenerative disease relationship: part_of Orphanet:385 ! Neurodegeneration with brain iron accumulation relationship: part_of Orphanet:98691 ! Abnormal eye movements property_value: alternative:term "PARK9" xsd:string [Term] id: Orphanet:306679 name: Rare parkinsonian syndrome due to intoxication is_a: Orphanet:68402 ! Rare parkinsonian disorder [Term] id: Orphanet:306682 name: Manganese poisoning xref: ICD10:T57.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:108999 ! Rare intoxication relationship: part_of Orphanet:306679 ! Rare parkinsonian syndrome due to intoxication property_value: alternative:term "Manganese intoxication" xsd:string [Term] id: Orphanet:306686 name: Carbon monoxide-induced parkinsonism xref: ICD10:G21.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:108999 ! Rare intoxication relationship: part_of Orphanet:306679 ! Rare parkinsonian syndrome due to intoxication property_value: alternative:term "CO-induced parkinsonism" xsd:string [Term] id: Orphanet:306692 name: Cyanide-induced parkinsonism xref: ICD10:G21.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:108999 ! Rare intoxication relationship: part_of Orphanet:306679 ! Rare parkinsonian syndrome due to intoxication [Term] id: Orphanet:306695 name: Miscellaneous movement disorder due to neurodegenerative disease is_a: Orphanet:102003 ! Rare movement disorder [Term] id: Orphanet:3067 name: Intellectual deficit - microcephaly - phalangeal - facial abnormalities is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:306708 name: Frontotemporal neurodegeneration with movement disorder is_a: Orphanet:306695 ! Miscellaneous movement disorder due to neurodegenerative disease is_a: Orphanet:307058 ! Miscellaneous movement disorder due to genetic neurodegenerative disease [Term] id: Orphanet:306712 name: Rare tremor disorder is_a: Orphanet:102003 ! Rare movement disorder [Term] id: Orphanet:306715 name: Rare choreic movement disorder is_a: Orphanet:102003 ! Rare movement disorder [Term] id: Orphanet:306719 name: Neurodegenerative disease with chorea is_a: Orphanet:183521 ! Rare genetic movement disorder is_a: Orphanet:306715 ! Rare choreic movement disorder [Term] id: Orphanet:306727 name: Postinfectious autoimmune disease with chorea is_a: Orphanet:306715 ! Rare choreic movement disorder [Term] id: Orphanet:306731 name: Sydenham chorea xref: ICD10:I02 is_a: Orphanet:377793 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! particular clinical situation in a disease or syndrome relationship: part_of Orphanet:306727 ! Postinfectious autoimmune disease with chorea [Term] id: Orphanet:306734 name: Primary dystonia, DYT21 type xref: ICD10:G24.1 xref: OMIM:614588 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:376724 ! Generalized isolated dystonia property_value: alternative:term "DYT21" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia." xsd:string [Term] id: Orphanet:306741 name: Hemidystonia-hemiatrophy syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:68363 ! Rare dystonia property_value: alternative:term "HD-HA syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hemidystonia-hemiatrophy syndrome (HD-HA) is a delayed onset disorder characterized by a combination of hemidystonia (HD) involving one half of the body and is usually preceded by some cerebral injury and hemiatrophy (HA) on the same side as HD." xsd:string [Term] id: Orphanet:306747 name: Rare myoclonus is_a: Orphanet:102003 ! Rare movement disorder [Term] id: Orphanet:306750 name: Primary myoclonus is_a: Orphanet:306747 ! Rare myoclonus is_a: Orphanet:307064 ! Rare genetic myoclonus [Term] id: Orphanet:306753 name: Rare disease with myoclonus as a major feature is_a: Orphanet:306747 ! Rare myoclonus [Term] id: Orphanet:306756 name: Epilepsy and/or ataxia with myoclonus as major feature is_a: Orphanet:306753 ! Rare disease with myoclonus as a major feature is_a: Orphanet:307067 ! Rare genetic disease with myoclonus as a major feature [Term] id: Orphanet:306759 name: Non progressive epilepsy and/or ataxia with myoclonus as a major feature is_a: Orphanet:306756 ! Epilepsy and/or ataxia with myoclonus as major feature [Term] id: Orphanet:306762 name: Progressive epilepsy and/or ataxia with myoclonus as a major feature is_a: Orphanet:306756 ! Epilepsy and/or ataxia with myoclonus as major feature [Term] id: Orphanet:306765 name: Motor stereotypies is_a: Orphanet:102003 ! Rare movement disorder is_a: Orphanet:183521 ! Rare genetic movement disorder [Term] id: Orphanet:306768 name: Rare paroxysmal movement disorder is_a: Orphanet:102003 ! Rare movement disorder is_a: Orphanet:183521 ! Rare genetic movement disorder [Term] id: Orphanet:306773 name: Hyperekplexia xref: ICD10:G25.8 is_a: Orphanet:102003 ! Rare movement disorder [Term] id: Orphanet:306776 name: Sporadic hyperekplexia xref: ICD10:G25.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:306773 ! Hyperekplexia [Term] id: Orphanet:3068 name: Intellectual deficit - myopathy - short stature - endocrine defect xref: OMIM:253320 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:97245 ! Congenital myopathy property_value: alternative:term "Chudley-Rozdilsky syndrome" xsd:string [Term] id: Orphanet:307 name: Juvenile myoclonic epilepsy xref: ICD10:G40.3 xref: MESH:D020190 xref: OMIM:254770 xref: OMIM:604827 xref: OMIM:607628 xref: OMIM:607682 xref: OMIM:608816 xref: OMIM:611136 xref: OMIM:611364 xref: OMIM:613060 xref: OMIM:614280 xref: SNOMED CT:6204001 xref: UMLS:C0270853 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:306759 ! Non progressive epilepsy and/or ataxia with myoclonus as a major feature relationship: part_of Orphanet:309 ! Familial partial epilepsy property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases)." xsd:string [Term] id: Orphanet:307052 name: Rare genetic parkinsonian disorder is_a: Orphanet:183521 ! Rare genetic movement disorder [Term] id: Orphanet:307055 name: Rare parkinsonian syndrome due to genetic neurodegenerative disease is_a: Orphanet:307052 ! Rare genetic parkinsonian disorder [Term] id: Orphanet:307058 name: Miscellaneous movement disorder due to genetic neurodegenerative disease is_a: Orphanet:183521 ! Rare genetic movement disorder [Term] id: Orphanet:307061 name: Rare genetic tremor disorder is_a: Orphanet:183521 ! Rare genetic movement disorder [Term] id: Orphanet:307064 name: Rare genetic myoclonus is_a: Orphanet:183521 ! Rare genetic movement disorder [Term] id: Orphanet:307067 name: Rare genetic disease with myoclonus as a major feature is_a: Orphanet:307064 ! Rare genetic myoclonus [Term] id: Orphanet:3071 name: Costello syndrome xref: ICD10:Q87.8 xref: MEDDRA:10067380 xref: MESH:D056685 xref: OMIM:218040 xref: SNOMED CT:309776008 xref: UMLS:C0587248 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:228215 ! Genetic dermis elastic tissue disorder relationship: part_of Orphanet:98733 ! Noonan syndrome and Noonan-related syndrome property_value: alternative:term "Faciocutaneoskeletal syndrome" xsd:string property_value: alternative:term "FCS syndrome" xsd:string property_value: alternative:term "Intellectual deficit - nasal papillomata" xsd:string [Term] id: Orphanet:307141 name: Diffuse palmoplantar keratoderma xref: ICD10:Q82.8 is_a: Orphanet:79357 ! Hereditary palmoplantar keratoderma property_value: alternative:term "Diffuse keratosis palmoplantaris" xsd:string property_value: alternative:term "Diffuse palmoplantar hyperkeratosis" xsd:string property_value: alternative:term "Diffuse PPK" xsd:string [Term] id: Orphanet:307148 name: Isolated diffuse palmoplantar keratoderma xref: ICD10:Q82.8 is_a: Orphanet:307141 ! Diffuse palmoplantar keratoderma property_value: alternative:term "Isolated diffuse keratosis palmoplantaris" xsd:string property_value: alternative:term "Isolated diffuse palmoplantar hyperkeratosis" xsd:string property_value: alternative:term "Isolated diffuse PPK" xsd:string [Term] id: Orphanet:3074 name: Intellectual deficit - short stature - hypertelorism xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Stoll-Géraudel-Chauvin syndrome" xsd:string [Term] id: Orphanet:3077 name: Intellectual deficit, X-linked - psychosis - macroorchidism xref: ICD10:F71.1 xref: OMIM:300055 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Lindsay-Burn syndrome" xsd:string property_value: alternative:term "PPM-X" xsd:string [Term] id: Orphanet:307711 name: Disease with diffuse palmoplantar keratoderma as a major feature xref: ICD10:Q82.8 is_a: Orphanet:307141 ! Diffuse palmoplantar keratoderma property_value: alternative:term "Disease with diffuse palmoplantar hyperkeratosis as a major feature" xsd:string [Term] id: Orphanet:307766 name: Curly hair-acral keratoderma-caries syndrome xref: ICD10:Q82.8 xref: OMIM:607656 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:98352 ! Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature property_value: alternative:term "CHAC syndrome" xsd:string property_value: alternative:term "CHACS" xsd:string [Term] id: Orphanet:307773 name: Autosomal dominant diffuse mutilating palmoplantar keratoderma xref: ICD10:Q82.8 is_a: Orphanet:98352 ! Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature property_value: alternative:term "Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis" xsd:string [Term] id: Orphanet:3078 name: Severe X-linked intellectual deficit, Gustavson type xref: ICD10:F72.9 xref: OMIM:309555 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit relationship: part_of Orphanet:98678 ! X-linked recessive optic atrophy [Term] id: Orphanet:307804 name: Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature xref: ICD10:Q82.8 is_a: Orphanet:307711 ! Disease with diffuse palmoplantar keratoderma as a major feature property_value: alternative:term "Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature" xsd:string [Term] id: Orphanet:307837 name: Focal palmoplantar keratoderma xref: ICD10:Q82.8 is_a: Orphanet:79357 ! Hereditary palmoplantar keratoderma property_value: alternative:term "Focal keratosis palmoplantaris" xsd:string property_value: alternative:term "Focal palmoplantar hyperkeratosis" xsd:string property_value: alternative:term "Focal PPK" xsd:string [Term] id: Orphanet:307846 name: Isolated focal palmoplantar keratoderma xref: ICD10:Q82.8 is_a: Orphanet:307837 ! Focal palmoplantar keratoderma property_value: alternative:term "Isolated focal keratosis palmoplantaris" xsd:string property_value: alternative:term "Isolated focal palmoplantar hyperkeratosis" xsd:string property_value: alternative:term "Isolated focal PPK" xsd:string [Term] id: Orphanet:307871 name: Disease with focal palmoplantar keratoderma as a major feature xref: ICD10:Q82.8 is_a: Orphanet:307837 ! Focal palmoplantar keratoderma property_value: alternative:term "Disease with focal palmoplantar hyperkeratosis as a major feature" xsd:string [Term] id: Orphanet:3079 name: Intellectual deficit, Buenos-Aires type xref: ICD10:Q87.8 xref: OMIM:249630 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Mutchinick syndrome" xsd:string [Term] id: Orphanet:307936 name: Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome xref: ICD10:Q82.8 xref: OMIM:607658 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:98353 ! Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature property_value: alternative:term "HOPP syndrome" xsd:string property_value: alternative:term "Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome" xsd:string property_value: alternative:term "Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome" xsd:string property_value: alternative:term "Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome" xsd:string [Term] id: Orphanet:307967 name: Punctate palmoplantar keratoderma xref: ICD10:Q82.8 is_a: Orphanet:79357 ! Hereditary palmoplantar keratoderma property_value: alternative:term "Punctate keratosis palmoplantaris" xsd:string property_value: alternative:term "Punctate palmoplantar hyperkeratosis" xsd:string property_value: alternative:term "Punctate PPK" xsd:string [Term] id: Orphanet:307995 name: Marginal papular palmoplantar keratoderma xref: ICD10:Q82.8 is_a: Orphanet:2338 ! Isolated punctate palmoplantar keratoderma property_value: alternative:term "Marginal papular palmoplantar hyperkeratosis" xsd:string [Term] id: Orphanet:308 name: Unverricht-Lundborg disease xref: ICD10:G40.3 xref: MEDDRA:10054895 xref: MESH:D020194 xref: OMIM:254800 xref: OMIM:310370 xref: OMIM:612437 xref: SNOMED CT:230423006 xref: UMLS:C0751785 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:306762 ! Progressive epilepsy and/or ataxia with myoclonus as a major feature relationship: part_of Orphanet:98261 ! Progressive myoclonic epilepsy property_value: alternative:term "Progressive myoclonic epilepsy type 1" xsd:string property_value: alternative:term "ULD" xsd:string [Term] id: Orphanet:3080 name: Intellectual deficit, Wolff type xref: ICD10:Q87.0 xref: OMIM:277990 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Wolff-Zimmermann syndrome" xsd:string [Term] id: Orphanet:308013 name: Focal acral hyperkeratosis xref: ICD10:Q82.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:307995 ! Marginal papular palmoplantar keratoderma property_value: alternative:term "PPKP3 without elastoidosis" xsd:string property_value: alternative:term "PPPK3 without elastoidosis" xsd:string property_value: alternative:term "Punctate palmoplantar hyperkeratosis type 3 without elastoidosis" xsd:string property_value: alternative:term "Punctate palmoplantar keratoderma type 3 without elastoidosis" xsd:string [Term] id: Orphanet:308023 name: Disease with punctate palmoplantar keratoderma as a major feature is_a: Orphanet:307967 ! Punctate palmoplantar keratoderma property_value: alternative:term "Disease with punctate palmoplantar hyperkeratosis as a major feature" xsd:string [Term] id: Orphanet:308031 name: Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature is_a: Orphanet:308023 ! Disease with punctate palmoplantar keratoderma as a major feature property_value: alternative:term "Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature" xsd:string [Term] id: Orphanet:308041 name: Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature is_a: Orphanet:308023 ! Disease with punctate palmoplantar keratoderma as a major feature property_value: alternative:term "Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature" xsd:string [Term] id: Orphanet:308053 name: PHD finger protein 21A xref: ENSEMBL:ENSG00000135365 xref: GENATLAS:PHF21A xref: HGNC:24156 xref: OMIM:608325 xref: REACTOME:Q96BD5 xref: UNIPROTKB/SWISSPROT:Q96BD5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:52022 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Potocki-Shaffer syndrome property_value: alternative:term "BHC80" xsd:string property_value: alternative:term "BM-006" xsd:string property_value: alternative:term "KIAA1696" xsd:string property_value: symbol "PHF21A" xsd:string [Term] id: Orphanet:308058 name: interferon induced transmembrane protein 5 xref: ENSEMBL:ENSG00000206013 xref: GENATLAS:IFITM5 xref: HGNC:16644 xref: OMIM:614757 xref: UNIPROTKB/SWISSPROT:A6NNB3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:216828 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 5 property_value: alternative:term "BRIL" xsd:string property_value: alternative:term "Fragilis4" xsd:string property_value: alternative:term "Hrmp1" xsd:string property_value: symbol "IFITM5" xsd:string [Term] id: Orphanet:308114 name: FANCD2/FANCI-associated nuclease 1 xref: ENSEMBL:ENSG00000198690 xref: GENATLAS:FAN1 xref: HGNC:29170 xref: OMIM:613534 xref: UNIPROTKB/SWISSPROT:Q9Y2M0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93589 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Late-onset autosomal recessive medullary cystic kidney disease property_value: alternative:term "KIAA1018" xsd:string property_value: alternative:term "MTMR15" xsd:string property_value: alternative:term "Myotubularin related protein 15" xsd:string property_value: symbol "FAN1" xsd:string [Term] id: Orphanet:308166 name: Erythrokeratoderma variabilis progressiva xref: ICD10:Q82.8 is_a: Orphanet:183438 ! Genetic erythrokeratoderma is_a: Orphanet:79355 ! Erythrokeratoderma [Term] id: Orphanet:3082 name: Intellectual deficit - polydactyly - uncombable hair xref: ICD10:Q87.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Kozlowski-Krajewska syndrome" xsd:string [Term] id: Orphanet:308222 name: teneurin transmembrane protein 3 xref: ENSEMBL:ENSG00000218336 xref: HGNC:29944 xref: OMIM:610083 xref: UNIPROTKB/SWISSPROT:Q9P273 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98938 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Colobomatous microphthalmia property_value: alternative:term "KIAA1455" xsd:string property_value: alternative:term "Odz, odd Oz/ten-m homolog 3 (Drosophila)" xsd:string property_value: alternative:term "ODZ3" xsd:string property_value: alternative:term "Ten-M3" xsd:string property_value: symbol "TENM3" xsd:string [Term] id: Orphanet:308262 name: dynactin 4 (p62) xref: ENSEMBL:ENSG00000132912 xref: GENATLAS:DCTN4 xref: HGNC:15518 xref: OMIM:614758 xref: REACTOME:Q9UJW0 xref: UNIPROTKB/SWISSPROT:Q9UJW0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317346 Orphanet:586 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cystic fibrosis property_value: symbol "DCTN4" xsd:string [Term] id: Orphanet:308380 name: Methylcobalamin deficiency type cblDv1 xref: ICD10:E72.1 xref: OMIM:277410 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:622 ! Homocystinuria without methylmalonic aciduria property_value: alternative:term "Functional methionine synthase deficiency type cblDv1" xsd:string [Term] id: Orphanet:308386 name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A xref: ICD10:E72.1 xref: OMIM:252150 is_a: Orphanet:99732 ! Sulfite oxidase deficiency due to molybdenum cofactor deficiency property_value: alternative:term "Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A" xsd:string property_value: alternative:term "MOCOD type A" xsd:string [Term] id: Orphanet:308393 name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B xref: ICD10:E72.1 xref: OMIM:252160 is_a: Orphanet:99732 ! Sulfite oxidase deficiency due to molybdenum cofactor deficiency property_value: alternative:term "Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B" xsd:string property_value: alternative:term "MOCOD type B" xsd:string [Term] id: Orphanet:3084 name: Mirhosseini-Holmes-Walton syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_193 with label: Cohen syndrome" xsd:string [Term] id: Orphanet:308400 name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C xref: ICD10:E72.1 xref: OMIM:615501 is_a: Orphanet:99732 ! Sulfite oxidase deficiency due to molybdenum cofactor deficiency property_value: alternative:term "Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C" xsd:string property_value: alternative:term "MOCOD type C" xsd:string [Term] id: Orphanet:308407 name: Disorder of beta and omega amino acid metabolism is_a: Orphanet:79062 ! Disorder of amino acid and other organic acid metabolism [Term] id: Orphanet:308410 name: Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency xref: ICD10:E71.1 xref: OMIM:614923 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:225689 ! Amino acid or protein metabolism disease with epilepsy relationship: part_of Orphanet:79197 ! Disorder of branched-chain amino acid metabolism [Term] id: Orphanet:308425 name: Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency xref: ICD10:E71.1 xref: OMIM:251120 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:293355 ! Methylmalonic acidemia without homocystinuria property_value: alternative:term "MCEE deficiency" xsd:string property_value: alternative:term "Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency" xsd:string property_value: alternative:term "Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency" xsd:string property_value: alternative:term "Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency" xsd:string [Term] id: Orphanet:308442 name: Vitamin B12-responsive methylmalonic acidemia, type cblDv2 xref: ICD10:E71.1 xref: OMIM:277410 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:28 ! Vitamin B12-responsive methylmalonic acidemia property_value: alternative:term "Vitamin B12-responsive methylmalonic aciduria, type cblDv2" xsd:string [Term] id: Orphanet:308448 name: Aminoacylase deficiency is_a: Orphanet:79158 ! Cerebral organic aciduria [Term] id: Orphanet:308451 name: Disorder of neutral amino acid transport xref: ICD10:E72.0 is_a: Orphanet:79166 ! Disorder of amino acid absorption and transport [Term] id: Orphanet:308459 name: Disorder of glycolysis is_a: Orphanet:79161 ! Disorder of carbohydrate metabolism [Term] id: Orphanet:308463 name: Disorder of fructose metabolism xref: ICD10:E74.1 is_a: Orphanet:79161 ! Disorder of carbohydrate metabolism [Term] id: Orphanet:308467 name: Disorder of galactose metabolism xref: ICD10:E74.2 is_a: Orphanet:79161 ! Disorder of carbohydrate metabolism [Term] id: Orphanet:308473 name: Erythrocyte galactose epimerase deficiency xref: ICD10:E74.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:79238 ! Galactose epimerase deficiency property_value: alternative:term "Erythrocyte epimerase deficiency galactosemia" xsd:string property_value: alternative:term "Erythrocyte GALE deficiency" xsd:string property_value: alternative:term "Erythrocyte GALE-D" xsd:string property_value: alternative:term "Erythrocyte UDP-galactose-4-epimerase deficiency" xsd:string property_value: alternative:term "Erythrocyte uridine diphosphate galactose-4-epimerase deficiency" xsd:string [Term] id: Orphanet:308487 name: Generalized galactose epimerase deficiency xref: ICD10:E74.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:79238 ! Galactose epimerase deficiency property_value: alternative:term "Generalized epimerase deficiency galactosemia" xsd:string property_value: alternative:term "Generalized GALE deficiency" xsd:string property_value: alternative:term "Generalized GALE-D" xsd:string property_value: alternative:term "Generalized UDP-galactose-4-epimerase deficiency" xsd:string property_value: alternative:term "Generalized uridine diphosphate galactose-4-epimerase deficiency" xsd:string [Term] id: Orphanet:3085 name: Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism xref: ICD10:Q87.8 xref: OMIM:268020 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa [Term] id: Orphanet:308520 name: Glycogen storage disease due to glycogen synthase deficiency xref: ICD10:E74.0 is_a: Orphanet:79201 ! Glycogen storage disease property_value: alternative:term "Glycogenosis due to glycogen synthase deficiency" xsd:string property_value: alternative:term "GSD due to glycogen synthase deficiency" xsd:string [Term] id: Orphanet:308552 name: Glycogen storage disease due to acid maltase deficiency, infantile onset xref: ICD10:E74.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:365 ! Glycogen storage disease due to acid maltase deficiency property_value: alternative:term "Alpha-1,4-glucosidase acid deficiency, infantile onset" xsd:string property_value: alternative:term "Glycogen storage disease type 2, infantile onset" xsd:string property_value: alternative:term "Glycogenosis due to acid maltase deficiency, infantile onset" xsd:string property_value: alternative:term "Glycogenosis type 2, infantile onset" xsd:string property_value: alternative:term "GSD due to acid maltase deficiency, infantile onset" xsd:string property_value: alternative:term "GSD type 2, infantile onset" xsd:string property_value: alternative:term "Pompe disease, infantile onset" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Glycogen storage disease (GSD) due to acid maltase deficiency, classical infantile onset (AMDI), is the most severe form of glycogen storage disease due to acid maltase deficiency (see this term). Characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties, it is potentially fatal." xsd:string [Term] id: Orphanet:308573 name: Glycogen storage disease due to acid maltase deficiency, juvenile onset xref: ICD10:E74.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:365 ! Glycogen storage disease due to acid maltase deficiency property_value: alternative:term "Alpha-1,4-glucosidase acid deficiency, juvenile onset" xsd:string property_value: alternative:term "Glycogen storage disease type 2, juvenile onset" xsd:string property_value: alternative:term "Glycogenosis due to acid maltase deficiency, juvenile onset" xsd:string property_value: alternative:term "Glycogenosis type 2, juvenile onset" xsd:string property_value: alternative:term "GSD due to acid maltase deficiency, juvenile onset" xsd:string property_value: alternative:term "GSD type 2, juvenile onset" xsd:string property_value: alternative:term "Pompe disease, juvenile onset" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Glycogen storage disease due to acid maltase deficiency, non-classical infantile onset (AMDNCI), is form of glycogen storage disease due to acid maltase deficiency (AMD, see this term), a metabolic myopathy affecting respiratory and skeletal muscles that may fatally impede respiratory function during childhood." xsd:string [Term] id: Orphanet:3086 name: Autosomal dominant vitreoretinochoroidopathy xref: ICD10:H35.5 xref: MESH:C536352 xref: OMIM:193220 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98670 ! Vitreoretinal degeneration property_value: alternative:term "ADVIRC" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. There is abnormal chorioretinal pigmentation, usually lying between the vortex veins and the ora serrata for 360 degrees." xsd:string [Term] id: Orphanet:308604 name: Glycogen storage disease due to acid maltase deficiency, adult onset xref: ICD10:E74.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:365 ! Glycogen storage disease due to acid maltase deficiency property_value: alternative:term "Alpha-1,4-glucosidase acid deficiency, adult onset" xsd:string property_value: alternative:term "Glycogen storage disease type 2, adult onset" xsd:string property_value: alternative:term "Glycogenosis due to acid maltase deficiency, adult onset" xsd:string property_value: alternative:term "Glycogenosis type 2, adult onset" xsd:string property_value: alternative:term "GSD due to acid maltase deficiency, adult onset" xsd:string property_value: alternative:term "GSD type 2, adulte onset" xsd:string property_value: alternative:term "Pompe disease, adult onset" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes." xsd:string [Term] id: Orphanet:308621 name: Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form xref: ICD10:E74.0 xref: OMIM:232500 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:367 ! Glycogen storage disease due to glycogen branching enzyme deficiency property_value: alternative:term "GBE deficiency, progressive hepatic form" xsd:string property_value: alternative:term "Glycogen storage disease type 4, progressive hepatic form" xsd:string property_value: alternative:term "Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form" xsd:string property_value: alternative:term "Glycogenosis type 4, progressive hepatic form" xsd:string property_value: alternative:term "GSD due to glycogen branching enzyme deficiency, progressive hepatic form" xsd:string property_value: alternative:term "GSD type 4, progressive hepatic form" xsd:string property_value: alternative:term "GSDIV, progressive hepatic form" xsd:string [Term] id: Orphanet:308638 name: Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form xref: ICD10:E74.0 xref: OMIM:232500 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:367 ! Glycogen storage disease due to glycogen branching enzyme deficiency property_value: alternative:term "GBE deficiency, non progressive hepatic form" xsd:string property_value: alternative:term "Glycogen storage disease type 4, non progressive hepatic form" xsd:string property_value: alternative:term "Glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form" xsd:string property_value: alternative:term "Glycogenosis type 4, non progressive hepatic form" xsd:string property_value: alternative:term "GSD due to glycogen branching enzyme deficiency, non progressive hepatic form" xsd:string property_value: alternative:term "GSD type 4, non progressive hepatic form" xsd:string property_value: alternative:term "GSDIV, non progressive hepatic form" xsd:string [Term] id: Orphanet:308655 name: Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form xref: ICD10:E74.0 xref: OMIM:232500 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:367 ! Glycogen storage disease due to glycogen branching enzyme deficiency property_value: alternative:term "GBE deficiency, fatal perinatal neuromuscular form" xsd:string property_value: alternative:term "Glycogen storage disease type 4, fatal perinatal neuromuscular form" xsd:string property_value: alternative:term "Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form" xsd:string property_value: alternative:term "Glycogenosis type 4, fatal perinatal neuromuscular form" xsd:string property_value: alternative:term "GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form" xsd:string property_value: alternative:term "GSD type 4, fatal perinatal neuromuscular form" xsd:string property_value: alternative:term "GSDIV, fatal perinatal neuromuscular form" xsd:string [Term] id: Orphanet:308670 name: Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form xref: ICD10:E74.0 xref: OMIM:232500 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:367 ! Glycogen storage disease due to glycogen branching enzyme deficiency property_value: alternative:term "GBE deficiency, congenital neuromuscular form" xsd:string property_value: alternative:term "Glycogen storage disease type 4, congenital neuromuscular form" xsd:string property_value: alternative:term "Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form" xsd:string property_value: alternative:term "Glycogenosis type 4, congenital neuromuscular form" xsd:string property_value: alternative:term "GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form" xsd:string property_value: alternative:term "GSD type 4, congenital neuromuscular form" xsd:string property_value: alternative:term "GSDIV, congenital neuromuscular form" xsd:string [Term] id: Orphanet:308684 name: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form xref: ICD10:E74.0 xref: OMIM:232500 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:367 ! Glycogen storage disease due to glycogen branching enzyme deficiency property_value: alternative:term "GBE deficiency, childhood combined hepatic and myopathic form" xsd:string property_value: alternative:term "Glycogen storage disease type 4, childhood combined hepatic and myopathic form" xsd:string property_value: alternative:term "Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form" xsd:string property_value: alternative:term "Glycogenosis type 4, childhood combined hepatic and myopathic form" xsd:string property_value: alternative:term "GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form" xsd:string property_value: alternative:term "GSD type 4, childhood combined hepatic and myopathic form" xsd:string property_value: alternative:term "GSDIV, childhood combined hepatic and myopathic form" xsd:string [Term] id: Orphanet:308698 name: Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form xref: ICD10:E74.0 xref: OMIM:232500 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:367 ! Glycogen storage disease due to glycogen branching enzyme deficiency property_value: alternative:term "GBE deficiency, childhood neuromuscular form" xsd:string property_value: alternative:term "Glycogen storage disease type 4, childhood neuromuscular form" xsd:string property_value: alternative:term "Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form" xsd:string property_value: alternative:term "Glycogenosis type 4, childhood neuromuscular form" xsd:string property_value: alternative:term "GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form" xsd:string property_value: alternative:term "GSD type 4, childhood neuromuscular form" xsd:string property_value: alternative:term "GSDIV, childhood neuromuscular form" xsd:string [Term] id: Orphanet:3087 name: Retinohepatoendocrinologic syndrome xref: OMIM:268040 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101956 ! Polyendocrinopathy relationship: part_of Orphanet:183643 ! Genetic polyendocrinopathy [Term] id: Orphanet:308712 name: Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form xref: ICD10:E74.0 xref: OMIM:232500 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:367 ! Glycogen storage disease due to glycogen branching enzyme deficiency property_value: alternative:term "GBE deficiency, adult neuromuscular form" xsd:string property_value: alternative:term "Glycogen storage disease type 4, adult neuromuscular form" xsd:string property_value: alternative:term "Glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form" xsd:string property_value: alternative:term "Glycogenosis type 4, adult neuromuscular form" xsd:string property_value: alternative:term "GSD due to glycogen branching enzyme deficiency, adult neuromuscular form" xsd:string property_value: alternative:term "GSD type 4, adult neuromuscular form" xsd:string property_value: alternative:term "GSDIV, adult neuromuscular form" xsd:string [Term] id: Orphanet:3088 name: Retinopathy - anemia- central nervous system anomalies xref: OMIM:268130 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:68383 ! Rare constitutional medullar aplasia relationship: part_of Orphanet:71862 ! Retinal dystrophy property_value: alternative:term "Revesz-DeBuse syndrome" xsd:string [Term] id: Orphanet:308993 name: Glycerol kinase deficiency is_a: Orphanet:79179 ! Disorder of glycerol metabolism [Term] id: Orphanet:308998 name: Disorder of glyoxylate metabolism is_a: Orphanet:79161 ! Disorder of carbohydrate metabolism [Term] id: Orphanet:309 name: Familial partial epilepsy xref: ICD10:G40.1 is_a: Orphanet:166475 ! Idiopathic or cryptogenic familial epileptic syndrome with identified loci/genes is_a: Orphanet:182083 ! Channelopathy with epilepsy is_a: Orphanet:98259 ! Childhood-onset epilepsy syndrome is_a: Orphanet:98260 ! Adolescent-onset epilepsy syndrome [Term] id: Orphanet:3090 name: Congenital pulmonary venous return anomaly xref: ICD10:Q26.2 xref: ICD10:Q26.3 xref: ICD10:Q26.4 is_a: Orphanet:98729 ! Congenital pulmonary veins anomaly property_value: alternative:term "Congenital pulmonary venous connection anomaly" xsd:string [Term] id: Orphanet:309001 name: Disorder of carbohydrate absorption and transport is_a: Orphanet:79161 ! Disorder of carbohydrate metabolism [Term] id: Orphanet:309005 name: Disorder of lipid metabolism is_a: Orphanet:68367 ! Inborn errors of metabolism [Term] id: Orphanet:309015 name: Familial lipoprotein lipase deficiency xref: ICD10:E78.3 xref: OMIM:238600 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:411 ! Hyperlipoproteinemia type 1 property_value: alternative:term "LPL deficiency" xsd:string [Term] id: Orphanet:309020 name: Familial apolipoprotein C-II deficiency xref: ICD10:E78.3 xref: OMIM:207750 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:411 ! Hyperlipoproteinemia type 1 property_value: alternative:term "Familial apoC-II deficiency" xsd:string [Term] id: Orphanet:309025 name: Mevalonate kinase deficiency is_a: Orphanet:79195 ! Sterol biosynthesis disorder [Term] id: Orphanet:309028 name: Disorder of lipid absorption and transport is_a: Orphanet:101937 ! Rare pancreatic disease is_a: Orphanet:165661 ! Genetic pancreatic disease is_a: Orphanet:309005 ! Disorder of lipid metabolism [Term] id: Orphanet:309031 name: Pancreatic triacylglycerol lipase deficiency xref: ICD10:K90.3 xref: OMIM:614338 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:309028 ! Disorder of lipid absorption and transport property_value: alternative:term "Pancreatic triglyceride lipase deficiency" xsd:string [Term] id: Orphanet:3091 name: Congenital systemic veins anomaly xref: ICD10:Q26.8 is_a: Orphanet:363189 ! Congenital anomaly of the great veins [Term] id: Orphanet:309108 name: Pancreatic colipase deficiency xref: ICD10:K90.3 xref: OMIM:614338 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:309028 ! Disorder of lipid absorption and transport [Term] id: Orphanet:309111 name: Combined pancreatic lipase-colipase deficiency xref: ICD10:K90.3 xref: OMIM:614338 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:309028 ! Disorder of lipid absorption and transport [Term] id: Orphanet:309115 name: Disorder of mitochondrial fatty acid oxidation xref: ICD10:E71.3 is_a: Orphanet:79174 ! Disorder of fatty acid oxidation and ketone body metabolism [Term] id: Orphanet:309120 name: Acyl-CoA dehydrogenase deficiency xref: ICD10:E71.3 is_a: Orphanet:309115 ! Disorder of mitochondrial fatty acid oxidation [Term] id: Orphanet:309127 name: 3-hydroxyacyl-CoA dehydrogenase deficiency xref: ICD10:E71.3 is_a: Orphanet:309115 ! Disorder of mitochondrial fatty acid oxidation [Term] id: Orphanet:309130 name: Disorder of carnitine cycle and carnitine transport xref: ICD10:E71.3 is_a: Orphanet:79174 ! Disorder of fatty acid oxidation and ketone body metabolism [Term] id: Orphanet:309133 name: Metabolic disease due to other fatty acid oxidation disorder xref: ICD10:E71.3 is_a: Orphanet:79174 ! Disorder of fatty acid oxidation and ketone body metabolism [Term] id: Orphanet:309136 name: Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes is_a: Orphanet:2443 ! Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies [Term] id: Orphanet:309144 name: Gangliosidosis xref: ICD10:E75.0 xref: ICD10:E75.1 is_a: Orphanet:371442 ! Sphingolipidosis with epilepsy is_a: Orphanet:79225 ! Sphingolipidosis [Term] id: Orphanet:309147 name: Hyper-beta-alaninemia xref: ICD10:E79.8 xref: OMIM:237400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:225689 ! Amino acid or protein metabolism disease with epilepsy relationship: part_of Orphanet:79193 ! Disorder of pyrimidine metabolism property_value: alternative:term "Hyperalaninemia" xsd:string [Term] id: Orphanet:309152 name: GM2 gangliosidosis xref: ICD10:E75.0 is_a: Orphanet:182070 ! Rare neurodegenerative disease is_a: Orphanet:183500 ! Genetic neurodegenerative disease is_a: Orphanet:309144 ! Gangliosidosis is_a: Orphanet:68385 ! Neurometabolic disease [Term] id: Orphanet:309155 name: Sandhoff disease, infantile form xref: ICD10:E75.0 xref: OMIM:268800 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:796 ! Sandhoff disease property_value: alternative:term "Hexosaminidases A and B deficiency, infantile form" xsd:string property_value: alternative:term "Infantile GM2 gangliosidosis 0 variant" xsd:string [Term] id: Orphanet:309162 name: Sandhoff disease, juvenile form xref: ICD10:E75.0 xref: OMIM:268800 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:796 ! Sandhoff disease property_value: alternative:term "Hexosaminidases A and B deficiency, juvenile form" xsd:string property_value: alternative:term "Juvenile GM2 gangliosidosis 0 variant" xsd:string [Term] id: Orphanet:309169 name: Sandhoff disease, adult form xref: ICD10:E75.0 xref: OMIM:268800 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:796 ! Sandhoff disease property_value: alternative:term "Adult GM2 gangliosidosis 0 variant" xsd:string property_value: alternative:term "Hexosaminidases A and B deficiency, adult form" xsd:string [Term] id: Orphanet:309178 name: Tay-Sachs disease, B variant, infantile form xref: ICD10:E75.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:845 ! Tay-Sachs disease property_value: alternative:term "GM2-gangliosidosis, B variant, infantile form" xsd:string property_value: alternative:term "Hexosaminidase A deficiency, infantile form" xsd:string [Term] id: Orphanet:309185 name: Tay-Sachs disease, B variant, juvenile form xref: ICD10:E75.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:845 ! Tay-Sachs disease property_value: alternative:term "GM2-gangliosidosis, B variant, juvenile form" xsd:string property_value: alternative:term "Hexosaminidase A deficiency, juvenile form" xsd:string [Term] id: Orphanet:309192 name: Tay-Sachs disease, B variant, adult form xref: ICD10:E75.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:845 ! Tay-Sachs disease property_value: alternative:term "GM2-gangliosidosis, B variant, adult form" xsd:string property_value: alternative:term "Hexosaminidase A deficiency, adult form" xsd:string [Term] id: Orphanet:3092 name: Fixed subaortic stenosis xref: ICD10:Q24.4 xref: OMIM:271950 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98718 ! Aortic malformation [Term] id: Orphanet:309239 name: Tay-Sachs disease, B1 variant xref: ICD10:E75.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:845 ! Tay-Sachs disease property_value: alternative:term "GM2-gangliosidosis, B1 variant" xsd:string property_value: alternative:term "Hexosaminidase A deficiency, B1 variant" xsd:string [Term] id: Orphanet:30924 name: Autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia xref: ICD10:E83.4 xref: OMIM:602014 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:306522 ! Familial primary hypomagnesemia with normocalcuria property_value: alternative:term "HOMG1" xsd:string property_value: alternative:term "Hypomagnesemia caused by selective magnesium malabsorption" xsd:string property_value: alternative:term "Hypomagnesemia intestinal type 1" xsd:string property_value: alternative:term "Intestinal hypomagnesemia with secondary hypocalcemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "ANPM" xsd:string [Term] id: Orphanet:309246 name: GM2-gangliosidosis, AB variant xref: ICD10:E75.0 xref: OMIM:272750 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:309152 ! GM2 gangliosidosis property_value: alternative:term "Hexosaminidase activator deficiency" xsd:string [Term] id: Orphanet:30925 name: Hereditary central diabetes insipidus xref: ICD10:E23.2 xref: OMIM:125700 xref: OMIM:304900 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101957 ! Pituitary deficiency relationship: part_of Orphanet:178029 ! Central diabetes insipidus property_value: alternative:term "Hereditary CDI" xsd:string property_value: alternative:term "Hereditary neurogenic diabetes insipidus" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI, see this term) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis." xsd:string [Term] id: Orphanet:309252 name: Atypical Gaucher disease due to saposin C deficiency xref: ICD10:E75.2 xref: OMIM:610539 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:355 ! Gaucher disease [Term] id: Orphanet:309256 name: Metachromatic leukodystrophy, late infantile form xref: ICD10:E75.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:512 ! Metachromatic leukodystrophy property_value: alternative:term "Arylsulfatase A deficiency, late infantile form" xsd:string property_value: alternative:term "MLD, late infantile form" xsd:string [Term] id: Orphanet:309263 name: Metachromatic leukodystrophy, juvenile form xref: ICD10:E75.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:512 ! Metachromatic leukodystrophy property_value: alternative:term "Arylsulfatase A deficiency, juvenile form" xsd:string property_value: alternative:term "MLD, juvenile form" xsd:string [Term] id: Orphanet:309271 name: Metachromatic leukodystrophy, adult form xref: ICD10:E75.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:512 ! Metachromatic leukodystrophy property_value: alternative:term "Arylsulfatase A deficiency, adult form" xsd:string property_value: alternative:term "MLD, adult form" xsd:string [Term] id: Orphanet:309279 name: Glycoproteinosis xref: ICD10:E77 is_a: Orphanet:68366 ! Lysosomal disease [Term] id: Orphanet:309282 name: Alpha-mannosidosis, infantile form xref: ICD10:E77.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:61 ! Alpha-mannosidosis property_value: alternative:term "Lysosomal alpha-D-mannosidase deficiency, infantile form" xsd:string [Term] id: Orphanet:309288 name: Alpha-mannosidosis, adult form xref: ICD10:E77.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:61 ! Alpha-mannosidosis property_value: alternative:term "Lysosomal alpha-D-mannosidase deficiency, adult form" xsd:string [Term] id: Orphanet:309294 name: Sialidosis xref: ICD10:E77.1 is_a: Orphanet:79215 ! Oligosaccharidosis [Term] id: Orphanet:309297 name: Mucopolysaccharidosis type 4A xref: ICD10:E76.2 xref: OMIM:253000 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:582 ! Mucopolysaccharidosis type 4 property_value: alternative:term "Galactosamine-6-sulfatase deficiency" xsd:string property_value: alternative:term "GALNS deficiency" xsd:string property_value: alternative:term "Morquio disease type A" xsd:string property_value: alternative:term "MPSIVA" xsd:string property_value: alternative:term "N-acetylgalactosamine-6-sulfate sulfatase deficiency" xsd:string [Term] id: Orphanet:3093 name: Congenital aortic valve stenosis xref: ICD10:Q23.0 xref: MEDDRA:10010371 xref: SNOMED CT:18546004 xref: UMLS:C0152417 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98718 ! Aortic malformation relationship: part_of Orphanet:98725 ! Ascending aorta anomaly [Term] id: Orphanet:309310 name: Mucopolysaccharidosis type 4B xref: ICD10:E76.2 xref: OMIM:253010 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:582 ! Mucopolysaccharidosis type 4 property_value: alternative:term "Beta-D-galactosidase deficiency" xsd:string property_value: alternative:term "Morquio disease type B" xsd:string property_value: alternative:term "MPSIVB" xsd:string [Term] id: Orphanet:309319 name: Disorder of sialic acid metabolism xref: ICD10:E77.8 is_a: Orphanet:68366 ! Lysosomal disease [Term] id: Orphanet:309324 name: Free sialic acid storage disease, infantile form xref: ICD10:E77.8 xref: OMIM:269920 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:834 ! Free sialic acid storage disease property_value: alternative:term "ISSD" xsd:string [Term] id: Orphanet:309331 name: Intermediate severe Salla disease xref: ICD10:E77.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:834 ! Free sialic acid storage disease [Term] id: Orphanet:309334 name: Salla disease xref: ICD10:E77.8 xref: OMIM:604369 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:834 ! Free sialic acid storage disease [Term] id: Orphanet:309337 name: Lysosomal glycogen storage disease xref: ICD10:E74.0 is_a: Orphanet:68366 ! Lysosomal disease [Term] id: Orphanet:309340 name: Disorder of lysosomal-related organelles is_a: Orphanet:68367 ! Inborn errors of metabolism [Term] id: Orphanet:309347 name: Disorder of protein N-glycosylation xref: ICD10:E77.8 is_a: Orphanet:137 ! Congenital disorder of glycosylation [Term] id: Orphanet:309447 name: Disorder of protein O-glycosylation xref: ICD10:E77.8 is_a: Orphanet:137 ! Congenital disorder of glycosylation [Term] id: Orphanet:309450 name: Disorder of O-xylosylglycan synthesis xref: ICD10:E77.8 is_a: Orphanet:309447 ! Disorder of protein O-glycosylation [Term] id: Orphanet:309458 name: Disorder of O-N-acetylgalactosaminylglycan synthesis xref: ICD10:E77.8 is_a: Orphanet:309447 ! Disorder of protein O-glycosylation [Term] id: Orphanet:309463 name: Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis xref: ICD10:E77.8 is_a: Orphanet:309447 ! Disorder of protein O-glycosylation [Term] id: Orphanet:309469 name: Disorder of O-mannosylglycan synthesis xref: ICD10:E77.8 is_a: Orphanet:309447 ! Disorder of protein O-glycosylation [Term] id: Orphanet:3095 name: Atypical Rett syndrome xref: OMIM:300672 xref: OMIM:312750 xref: OMIM:613454 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:166472 ! Monogenic disease with epilepsy relationship: part_of Orphanet:168778 ! Rare pervasive developmental disorder relationship: part_of Orphanet:306765 ! Motor stereotypies relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Atypical RTT" xsd:string property_value: alternative:term "Rett syndrome variant" xsd:string [Term] id: Orphanet:309505 name: Disorder of fucoglycosan synthesis xref: ICD10:E77.8 is_a: Orphanet:309447 ! Disorder of protein O-glycosylation [Term] id: Orphanet:309515 name: Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation xref: ICD10:E77.8 is_a: Orphanet:137 ! Congenital disorder of glycosylation property_value: alternative:term "Disorder of glycosphingolipid and GPI-anchored proteins glycosylation" xsd:string [Term] id: Orphanet:309526 name: Disorder of multiple glycosylation xref: ICD10:E77.8 is_a: Orphanet:137 ! Congenital disorder of glycosylation [Term] id: Orphanet:309568 name: Defect in conserved oligomeric Golgi complex xref: ICD10:E77.8 is_a: Orphanet:309526 ! Disorder of multiple glycosylation property_value: alternative:term "Defect in COG complex" xsd:string [Term] id: Orphanet:3096 name: Reye's syndrome xref: ICD10:G93.7 xref: MEDDRA:10039012 xref: MESH:D012202 xref: SNOMED CT:74351001 xref: UMLS:C0035400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:182222 ! Rare systemic disease [Term] id: Orphanet:3097 name: Meacham syndrome xref: ICD10:Q87.8 xref: OMIM:608978 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:180148 ! Syndromic uterovaginal malformation relationship: part_of Orphanet:325638 ! Syndrome with disorder of sex development of gynecological interest relationship: part_of Orphanet:98087 ! Syndrome with 46,XY disorder of sex development property_value: alternative:term "Meacham-Winn-Culler syndrome" xsd:string property_value: alternative:term "Rhabdomyomatous dysplasia - cardiopathy - genital anomalies" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations." xsd:string [Term] id: Orphanet:309778 name: Defect in V-ATPase xref: ICD10:E77.8 is_a: Orphanet:309526 ! Disorder of multiple glycosylation [Term] id: Orphanet:309789 name: Rhizomelic chondrodysplasia punctata type 1 xref: ICD10:Q77.3 xref: OMIM:215100 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: part_of Orphanet:177 ! Rhizomelic chondrodysplasia punctata [Term] id: Orphanet:309796 name: Rhizomelic chondrodysplasia punctata type 2 xref: ICD10:Q77.3 xref: OMIM:222765 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: part_of Orphanet:177 ! Rhizomelic chondrodysplasia punctata [Term] id: Orphanet:3098 name: Rhizomelic syndrome, Urbach type xref: ICD10:Q87.1 xref: MESH:C537611 xref: OMIM:268250 xref: UMLS:C1849382 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93438 ! Mesomelic and rhizo-mesomelic dysplasia [Term] id: Orphanet:309803 name: Rhizomelic chondrodysplasia punctata type 3 xref: ICD10:Q77.3 xref: OMIM:600121 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: part_of Orphanet:177 ! Rhizomelic chondrodysplasia punctata [Term] id: Orphanet:309810 name: Disorder of peroxisomal alpha-, beta- and omega-oxidation is_a: Orphanet:68373 ! Peroxisomal disease [Term] id: Orphanet:309813 name: Disorder of porphyrin and haem metabolism xref: ICD10:E80 is_a: Orphanet:68367 ! Inborn errors of metabolism [Term] id: Orphanet:309816 name: Disorder of bilirubin metabolism and excretion is_a: Orphanet:309813 ! Disorder of porphyrin and haem metabolism [Term] id: Orphanet:309819 name: Disorder of pterin metabolism is_a: Orphanet:79169 ! Disorder of neurotransmitter metabolism and transport [Term] id: Orphanet:309824 name: Disorder of metabolite absorption and transport is_a: Orphanet:68367 ! Inborn errors of metabolism [Term] id: Orphanet:309827 name: Disorder of vitamin and non-protein cofactor absorption and transport  is_a: Orphanet:309824 ! Disorder of metabolite absorption and transport [Term] id: Orphanet:309830 name: Disorder of catecholamine synthesis is_a: Orphanet:79169 ! Disorder of neurotransmitter metabolism and transport [Term] id: Orphanet:309833 name: Disorder of other vitamins and cofactors metabolism and transport is_a: Orphanet:309827 ! Disorder of vitamin and non-protein cofactor absorption and transport  [Term] id: Orphanet:309836 name: Disorder of mineral absorption and transport xref: ICD10:E83 is_a: Orphanet:309824 ! Disorder of metabolite absorption and transport [Term] id: Orphanet:309839 name: Disorder of copper metabolism xref: ICD10:E83.0 is_a: Orphanet:309836 ! Disorder of mineral absorption and transport [Term] id: Orphanet:309842 name: Disorder of iron metabolism and transport xref: ICD10:E83.1 is_a: Orphanet:309836 ! Disorder of mineral absorption and transport [Term] id: Orphanet:309845 name: Disorder of zinc metabolism xref: ICD10:E83.2 is_a: Orphanet:309836 ! Disorder of mineral absorption and transport [Term] id: Orphanet:309848 name: Disorder of magnesium transport xref: ICD10:E83.4 is_a: Orphanet:309836 ! Disorder of mineral absorption and transport [Term] id: Orphanet:309851 name: Disorder of manganese transport xref: ICD10:E83.8 is_a: Orphanet:309836 ! Disorder of mineral absorption and transport [Term] id: Orphanet:309854 name: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome xref: OMIM:613280 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:306666 ! Rare parkinsonian syndrome due to neurodegenerative disease relationship: part_of Orphanet:307055 ! Rare parkinsonian syndrome due to genetic neurodegenerative disease relationship: part_of Orphanet:309851 ! Disorder of manganese transport [Term] id: Orphanet:3099 name: Rheumatic fever xref: ICD10:I00 xref: ICD10:I01 xref: MEDDRA:10039054 xref: MESH:D012213 xref: OMIM:268240 xref: SNOMED CT:26424001 xref: SNOMED CT:58718002 xref: UMLS:C0035436 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182222 ! Rare systemic disease property_value: alternative:term "Acute rheumatic fever" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Rheumatic fever (RF) is a multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis." xsd:string [Term] id: Orphanet:31 name: Oxoglutaricaciduria xref: ICD10:E88.8 xref: MESH:C536582 xref: OMIM:203740 xref: UMLS:C2752074 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:225700 ! Mitochondrial disease with epilepsy relationship: part_of Orphanet:225703 ! Mitochondrial disease with peripheral neuropathy relationship: part_of Orphanet:254749 ! Tricarboxylic acid cycle disorder relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "Alpha-ketoglutarate dehydrogenase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Oxoglutaric aciduria is a tricarboxylic acid cycle disorder caused by deficiency of alpha ketoglutarate dehydrogenase (oxoglutarate dehydrogenase), characterized by severe psychomotor retardation, hypotonia, ataxia and convulsions (the signs of Leigh's syndrome), as well as sudden death, myocardiopathy, and hepatic disorders." xsd:string [Term] id: Orphanet:310 name: Reflex epilepsy xref: ICD10:G40.8 xref: MESH:D020195 xref: SNOMED CT:79745005 xref: UMLS:C0270857 is_a: Orphanet:98259 ! Childhood-onset epilepsy syndrome is_a: Orphanet:98260 ! Adolescent-onset epilepsy syndrome relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Reflex epilepsies are rare epileptic syndromes with seizures induced by specific triggering factors (either by visual, auditory, somato-sensitive or somato-motor stimulation, or by higher cortical function activities). Photosensitive epilepsies are the most frequent form. Spontaneous seizures may also occur. 'Reflex seizures'' can be classified into a simple 'pure'' reflex epilepsy and a complex group. The former comprises seizure triggered by simple sensory stimuli or by movements (photosensitive epilepsies). The latter are triggered by complex mental and emotional processes (verbal and non-verbal epilepsies)." xsd:string [Term] id: Orphanet:310043 name: tectonic family member 3 xref: ENSEMBL:ENSG00000119977 xref: GENATLAS:TCTN3 xref: HGNC:24519 xref: OMIM:613847 xref: UNIPROTKB/SWISSPROT:Q6NUS6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2753 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Orofaciodigital syndrome type 4 relationship: Orphanet:317343 Orphanet:2754 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with orofaciodigital defect property_value: alternative:term "C10orf61" xsd:string property_value: alternative:term "Chromosome 10 open reading frame 61" xsd:string property_value: alternative:term "DKFZP564D116" xsd:string property_value: alternative:term "TECT3" xsd:string property_value: symbol "TCTN3" xsd:string [Term] id: Orphanet:310050 name: Acquired immunodeficiency is_a: Orphanet:98004 ! Rare immune disease [Term] id: Orphanet:3101 name: Richieri Costa-da Silva syndrome xref: ICD10:Q87.8 xref: MESH:C535675 xref: OMIM:255710 xref: UMLS:C2930978 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Myotonia - intellectual deficit - skeletal anomalies" xsd:string [Term] id: Orphanet:310103 name: wingless-type MMTV integration site family, member 3A xref: ENSEMBL:ENSG00000154342 xref: GENATLAS:WNT3A xref: HGNC:15983 xref: OMIM:606359 xref: REACTOME:P56704 xref: UNIPROTKB/SWISSPROT:P56704 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:85193 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic juvenile osteoporosis property_value: symbol "WNT3A" xsd:string [Term] id: Orphanet:310112 name: dickkopf WNT signaling pathway inhibitor 1 xref: ENSEMBL:ENSG00000107984 xref: GENATLAS:DKK1 xref: HGNC:2891 xref: OMIM:605189 xref: UNIPROTKB/SWISSPROT:O94907 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:85193 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic juvenile osteoporosis property_value: alternative:term "Dickkopf (Xenopus laevis) homolog 1" xsd:string property_value: alternative:term "Dickkopf 1 homolog (Xenopus laevis)" xsd:string property_value: alternative:term "DKK-1" xsd:string property_value: alternative:term "SK" xsd:string property_value: symbol "DKK1" xsd:string [Term] id: Orphanet:3102 name: Richieri Costa-Pereira syndrome xref: ICD10:Q87.8 xref: MESH:C535677 xref: OMIM:268305 xref: UMLS:C1849348 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot" xsd:string property_value: alternative:term "Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot" xsd:string [Term] id: Orphanet:3103 name: Roberts syndrome xref: ICD10:Q73.8 xref: MESH:C535687 xref: OMIM:268300 xref: OMIM:269000 xref: SNOMED CT:48718006 xref: UMLS:C0392475 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:98648 ! Musculoskeletal disease with cataract property_value: alternative:term "Pseudothalidomide syndrome" xsd:string property_value: alternative:term "Roberts-SC phocomelia syndrome" xsd:string property_value: alternative:term "SC phocomelia" xsd:string property_value: alternative:term "SC pseudothalidomide syndrome" xsd:string [Term] id: Orphanet:3104 name: Robin sequence - oligodactyly xref: ICD10:Q87.0 xref: MESH:C535688 xref: OMIM:172880 xref: UMLS:C1868309 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome property_value: alternative:term "Pierre Robin sequence - oligodactyly" xsd:string [Term] id: Orphanet:310402 name: chromosome 4 open reading frame 26 xref: ENSEMBL:ENSG00000174792 xref: GENATLAS:C4orf26 xref: HGNC:26300 xref: OMIM:614829 xref: UNIPROTKB/SWISSPROT:Q17RF5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100033 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypomaturation amelogenesis imperfecta property_value: alternative:term "FLJ23657" xsd:string property_value: symbol "C4ORF26" xsd:string [Term] id: Orphanet:310406 name: recombination signal binding protein for immunoglobulin kappa J region xref: ENSEMBL:ENSG00000168214 xref: GENATLAS:RBPJ xref: HGNC:5724 xref: OMIM:147183 xref: REACTOME:Q06330 xref: UNIPROTKB/SWISSPROT:Q06330 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:974 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adams-Oliver syndrome property_value: alternative:term "CBF1" xsd:string property_value: alternative:term "IGKJRB" xsd:string property_value: alternative:term "IGKJRB1" xsd:string property_value: alternative:term "KBF2" xsd:string property_value: alternative:term "RBP-J" xsd:string property_value: alternative:term "RBPJK" xsd:string property_value: alternative:term "RBPSUH" xsd:string property_value: alternative:term "Recombining binding protein suppressor of hairless (Drosophila)" xsd:string property_value: alternative:term "SUH" xsd:string property_value: alternative:term "Suppressor of hairless homolog (Drosophila)" xsd:string property_value: symbol "RBPJ" xsd:string [Term] id: Orphanet:310425 name: profilin 1 xref: ENSEMBL:ENSG00000108518 xref: GENATLAS:PFN1 xref: HGNC:8881 xref: OMIM:176610 xref: REACTOME:P07737 xref: UNIPROTKB/SWISSPROT:P07737 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis property_value: symbol "PFN1" xsd:string [Term] id: Orphanet:31043 name: Familial hypomagnesemia - hypercalciuria - nephrocalcinosis xref: OMIM:248250 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:306516 ! Familial primary hypomagnesemia with hypercalcuria property_value: alternative:term "HOMG3" xsd:string property_value: alternative:term "Hypomagnesemia renal type 3" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia with hypercalciuria (FHHNC; see this term) characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." xsd:string [Term] id: Orphanet:310433 name: potassium inwardly-rectifying channel, subfamily J, member 18 xref: GENATLAS:KCNJ18 xref: HGNC:39080 xref: OMIM:613236 xref: UNIPROTKB/SWISSPROT:B7U540 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:79102 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Thyrotoxic periodic paralysis property_value: alternative:term "KIR2.6" xsd:string property_value: alternative:term "TTPP2" xsd:string property_value: symbol "KCNJ18" xsd:string [Term] id: Orphanet:310451 name: coiled-coil domain containing 78 xref: ENSEMBL:ENSG00000162004 xref: GENATLAS:CCDC78 xref: HGNC:14153 xref: OMIM:614666 xref: UNIPROTKB/SWISSPROT:A2IDD5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319160 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital myopathy with internal nuclei and atypical cores property_value: alternative:term "C16orf25" xsd:string property_value: alternative:term "FLJ34512" xsd:string property_value: symbol "CCDC78" xsd:string [Term] id: Orphanet:310474 name: protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) xref: ENSEMBL:ENSG00000144647 xref: GENATLAS:GTDC2 xref: HGNC:25902 xref: OMIM:614828 xref: UNIPROTKB/SWISSPROT:Q8NAT1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Walker-Warburg syndrome property_value: alternative:term "AGO61" xsd:string property_value: alternative:term "C3orf39" xsd:string property_value: alternative:term "Chromosome 3 open reading frame 39" xsd:string property_value: alternative:term "FLJ14566" xsd:string property_value: alternative:term "Glycosyltransferase-like domain containing 2" xsd:string property_value: alternative:term "GTDC2" xsd:string property_value: symbol "POMGNT2" xsd:string [Term] id: Orphanet:3105 name: Robinow-like syndrome xref: ICD10:Q87.1 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "Saal-Greenstein syndrome" xsd:string [Term] id: Orphanet:3106 name: Robinow-Sorauf syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_794 with label: Saethre-Chotzen syndrome" xsd:string [Term] id: Orphanet:3107 name: Autosomal dominant Robinow syndrome xref: ICD10:Q87.1 xref: OMIM:180700 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139021 ! Malformation syndrome with short stature relationship: part_of Orphanet:183570 ! Genetic malformation syndrome with short stature relationship: part_of Orphanet:97360 ! Robinow syndrome property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." xsd:string [Term] id: Orphanet:310793 name: nicotinamide nucleotide adenylyltransferase 1 xref: ENSEMBL:ENSG00000173614 xref: GENATLAS:NMNAT1 xref: HGNC:17877 xref: OMIM:608700 xref: REACTOME:Q9HAN9 xref: UNIPROTKB/SWISSPROT:Q9HAN9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:65 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leber congenital amaurosis property_value: alternative:term "Nicotinamide nucleotide adenylyltransferase" xsd:string property_value: alternative:term "NMNAT" xsd:string property_value: alternative:term "PNAT1" xsd:string property_value: symbol "NMNAT1" xsd:string [Term] id: Orphanet:310868 name: optic atrophy 2 (obscure) xref: HGNC:8141 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98890 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early-onset X-linked optic atrophy property_value: symbol "OPA2" xsd:string [Term] id: Orphanet:3109 name: Mayer-Rokitansky-Küster-Hauser syndrome xref: ICD10:Q51.8 xref: MEDDRA:10065148 xref: OMIM:158330 xref: OMIM:277000 xref: OMIM:601076 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:180068 ! Partial bilateral aplasia of the Müllerian duct relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "MRKH syndrome" xsd:string property_value: alternative:term "Rokitansky syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two thirds of the vagina in otherwise phenotypically normal females. It can be classed as either type I (classical) MRKH or type II (atypical) MRKH (also known as MURCS association; see these terms), depending on if it is isolated or associated with other malformations." xsd:string [Term] id: Orphanet:3110 name: Rombo syndrome xref: MESH:C535870 xref: OMIM:180730 xref: UMLS:C1867147 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma [Term] id: Orphanet:311032 name: solute carrier family 30, member 10 xref: ENSEMBL:ENSG00000196660 xref: GENATLAS:SLC30A10 xref: HGNC:25355 xref: OMIM:611146 xref: UNIPROTKB/SWISSPROT:Q6XR72 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:309854 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome property_value: alternative:term "DKFZp547M236" xsd:string property_value: alternative:term "Zinc transporter 8" xsd:string property_value: alternative:term "ZnT-10" xsd:string property_value: alternative:term "ZNT8" xsd:string property_value: alternative:term "ZRC1" xsd:string property_value: symbol "SLC30A10" xsd:string [Term] id: Orphanet:311039 name: integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) xref: ENSEMBL:ENSG00000005884 xref: GENATLAS:ITGA3 xref: HGNC:6139 xref: OMIM:605025 xref: REACTOME:P26006 xref: UNIPROTKB/SWISSPROT:P26006 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:306504 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome property_value: alternative:term "Antigen identified by monoclonal antibody J143" xsd:string property_value: alternative:term "CD49c" xsd:string property_value: alternative:term "GAP-B3" xsd:string property_value: alternative:term "MSK18" xsd:string property_value: alternative:term "VCA-2" xsd:string property_value: alternative:term "VLA3a" xsd:string property_value: symbol "ITGA3" xsd:string [Term] id: Orphanet:311047 name: adaptor-related protein complex 5, zeta 1 subunit xref: ENSEMBL:ENSG00000242802 xref: GENATLAS:KIAA0415 xref: HGNC:22197 xref: OMIM:613653 xref: UNIPROTKB/SWISSPROT:O43299 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:306511 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 48 property_value: alternative:term "KIAA0415" xsd:string property_value: alternative:term "SPG48" xsd:string property_value: alternative:term "zeta" xsd:string property_value: symbol "AP5Z1" xsd:string [Term] id: Orphanet:311068 name: cyclin M2 xref: ENSEMBL:ENSG00000148842 xref: GENATLAS:CNNM2 xref: HGNC:103 xref: OMIM:607803 xref: UNIPROTKB/SWISSPROT:Q9H8M5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:34527 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial primary hypomagnesemia with normocalcuria and normocalcemia property_value: alternative:term "ACDP2" xsd:string property_value: symbol "CNNM2" xsd:string [Term] id: Orphanet:3111 name: Rotor syndrome xref: ICD10:E80.6 xref: MEDDRA:10039234 xref: OMIM:237450 xref: SNOMED CT:32891000 xref: UMLS:C0220991 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:309816 ! Disorder of bilirubin metabolism and excretion property_value: alternative:term "Hyperbilirubinemia, Rotor type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology." xsd:string [Term] id: Orphanet:311103 name: homeobox B1 xref: ENSEMBL:ENSG00000120094 xref: GENATLAS:HOXB1 xref: HGNC:5111 xref: OMIM:142968 xref: UNIPROTKB/SWISSPROT:P14653 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:306530 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital hereditary facial paralysis with variable hearing loss property_value: alternative:term "Homeo box B1" xsd:string property_value: alternative:term "HOX2" xsd:string property_value: alternative:term "HOX2I" xsd:string property_value: symbol "HOXB1" xsd:string [Term] id: Orphanet:311114 name: ALX homeobox 1 xref: ENSEMBL:ENSG00000180318 xref: GENATLAS:ALX1 xref: HGNC:1494 xref: OMIM:601527 xref: UNIPROTKB/SWISSPROT:Q15699 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:306542 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome property_value: alternative:term "CART1" xsd:string property_value: alternative:term "Cartilage paired-class homeoprotein 1" xsd:string property_value: symbol "ALX1" xsd:string [Term] id: Orphanet:311118 name: junctional adhesion molecule 3 xref: ENSEMBL:ENSG00000166086 xref: GENATLAS:JAM3 xref: HGNC:15532 xref: OMIM:606871 xref: REACTOME:Q9BX67 xref: UNIPROTKB/SWISSPROT:Q9BX67 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:306547 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Porencephaly-microcephaly-bilateral congenital cataract syndrome property_value: alternative:term "JAM-C" xsd:string property_value: alternative:term "JAMC" xsd:string property_value: symbol "JAM3" xsd:string [Term] id: Orphanet:31112 name: Dermatofibrosarcoma protuberans xref: MEDDRA:10057070 xref: MESH:C538219 xref: OMIM:607907 xref: SNOMED CT:128742004 xref: SNOMED CT:238863004 xref: SNOMED CT:276799004 xref: UMLS:C0392784 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:271832 ! Genetic soft tissue tumor relationship: part_of Orphanet:3394 ! Soft tissue sarcoma relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma property_value: alternative:term "DFSP" xsd:string [Term] id: Orphanet:311122 name: Fas (TNFRSF6)-associated via death domain xref: ENSEMBL:ENSG00000168040 xref: GENATLAS:FADD xref: HGNC:3573 xref: OMIM:602457 xref: REACTOME:Q13158 xref: UNIPROTKB/SWISSPROT:Q13158 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:306550 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! FADD-related immunodeficiency relationship: Orphanet:317349 Orphanet:99806 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oculootodental syndrome property_value: alternative:term "Fas-associating death domain-containing protein" xsd:string property_value: alternative:term "Fas-associating protein with death domain" xsd:string property_value: alternative:term "GIG3" xsd:string property_value: alternative:term "Growth-inhibiting gene 3 protein" xsd:string property_value: alternative:term "Mediator of receptor-induced toxicity" xsd:string property_value: alternative:term "MORT1" xsd:string property_value: symbol "FADD" xsd:string [Term] id: Orphanet:311140 name: v-ski avian sarcoma viral oncogene homolog xref: ENSEMBL:ENSG00000157933 xref: GENATLAS:SKI xref: HGNC:10896 xref: OMIM:164780 xref: REACTOME:P12755 xref: UNIPROTKB/SWISSPROT:P12755 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2462 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Shprintzen-Goldberg syndrome relationship: Orphanet:317349 Orphanet:1606 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 1p36 deletion syndrome property_value: alternative:term "V-ski avian sarcoma viral oncogene homolog" xsd:string property_value: alternative:term "V-ski sarcoma viral oncogene homolog (avian)" xsd:string property_value: symbol "SKI" xsd:string [Term] id: Orphanet:311145 name: potassium voltage-gated channel, shaker-related subfamily, beta member 2 xref: ENSEMBL:ENSG00000069424 xref: GENATLAS:KCNAB2 xref: HGNC:6229 xref: OMIM:601142 xref: REACTOME:Q13303 xref: UNIPROTKB/SWISSPROT:Q13303 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:1606 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 1p36 deletion syndrome property_value: alternative:term "AKR6A5" xsd:string property_value: alternative:term "HKvbeta2.1" xsd:string property_value: alternative:term "HKvbeta2.2" xsd:string property_value: alternative:term "KCNA2B" xsd:string property_value: symbol "KCNAB2" xsd:string [Term] id: Orphanet:3112 name: Patella aplasia - coxa vara - tarsal synostosis is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_1509 with label: Coxo-podo-patellar syndrome" xsd:string [Term] id: Orphanet:311271 name: mitochondrial poly(A) polymerase xref: ENSEMBL:ENSG00000107951 xref: GENATLAS:MTPAP xref: HGNC:25532 xref: OMIM:613669 xref: UNIPROTKB/SWISSPROT:Q9NVV4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:254343 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic ataxia - optic atrophy - dysarthria property_value: alternative:term "FLJ10486" xsd:string property_value: alternative:term "mtPAP" xsd:string property_value: alternative:term "PAP associated domain containing 1" xsd:string property_value: alternative:term "PAPD1" xsd:string property_value: alternative:term "TUTase1" xsd:string property_value: symbol "MTPAP" xsd:string [Term] id: Orphanet:311350 name: immediate early response 3 interacting protein 1 xref: ENSEMBL:ENSG00000134049 xref: GENATLAS:IER3IP1 xref: HGNC:18550 xref: OMIM:609382 xref: UNIPROTKB/SWISSPROT:Q9Y5U9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:306558 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome property_value: symbol "IER3IP1" xsd:string [Term] id: Orphanet:311367 name: dystonia 21, torsion (autosomal dominant) xref: HGNC:39436 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:306734 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary dystonia, DYT21 type property_value: symbol "DYT21" xsd:string [Term] id: Orphanet:311398 name: ATPase, Ca++ transporting, plasma membrane 3 xref: ENSEMBL:ENSG00000067842 xref: GENATLAS:ATP2B3 xref: HGNC:816 xref: OMIM:300014 xref: REACTOME:Q16720 xref: UNIPROTKB/SWISSPROT:Q16720 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314978 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non progressive cerebellar ataxia property_value: alternative:term "Plasma membrane calcium-transporting ATPase 3" xsd:string property_value: alternative:term "PMCA3" xsd:string property_value: symbol "ATP2B3" xsd:string [Term] id: Orphanet:31142 name: Oral erosive lichen xref: ICD10:L43.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:90077 ! Other acquired skin disease [Term] id: Orphanet:311424 name: RAB33B, member RAS oncogene family xref: ENSEMBL:ENSG00000172007 xref: GENATLAS:RAB33B xref: HGNC:16075 xref: OMIM:605950 xref: UNIPROTKB/SWISSPROT:Q9H082 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178355 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Smith-McCort dysplasia property_value: alternative:term "DKFZP434G099" xsd:string property_value: symbol "RAB33B" xsd:string [Term] id: Orphanet:311452 name: transforming, acidic coiled-coil containing protein 3 xref: ENSEMBL:ENSG00000013810 xref: GENATLAS:TACC3 xref: HGNC:11524 xref: OMIM:605303 xref: UNIPROTKB/SWISSPROT:Q9Y6A5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:251576 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gliosarcoma relationship: Orphanet:317348 Orphanet:251579 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Giant cell glioblastoma property_value: alternative:term "ERIC1" xsd:string property_value: symbol "TACC3" xsd:string [Term] id: Orphanet:311455 name: transforming, acidic coiled-coil containing protein 1 xref: ENSEMBL:ENSG00000147526 xref: GENATLAS:TACC1 xref: HGNC:11522 xref: OMIM:605301 xref: UNIPROTKB/SWISSPROT:O75410 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:251576 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gliosarcoma relationship: Orphanet:317348 Orphanet:251579 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Giant cell glioblastoma property_value: symbol "TACC1" xsd:string [Term] id: Orphanet:311462 name: intraflagellar transport 88 homolog (Chlamydomonas) xref: ENSEMBL:ENSG00000032742 xref: GENATLAS:IFT88 xref: HGNC:20606 xref: OMIM:600595 xref: UNIPROTKB/SWISSPROT:Q13099 is_a: Orphanet:C010 ! gene relationship: Orphanet:317346 Orphanet:474 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Jeune syndrome relationship: Orphanet:317346 Orphanet:564 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Meckel syndrome property_value: alternative:term "D13S1056E" xsd:string property_value: alternative:term "hTg737" xsd:string property_value: alternative:term "MGC26259" xsd:string property_value: alternative:term "Polaris homolog" xsd:string property_value: alternative:term "Tetratricopeptide repeat domain 10" xsd:string property_value: alternative:term "Tg737" xsd:string property_value: alternative:term "TTC10" xsd:string property_value: symbol "IFT88" xsd:string [Term] id: Orphanet:3115 name: Roussy-Lévy syndrome xref: ICD10:G60.0 xref: OMIM:180800 xref: SNOMED CT:45853006 xref: UMLS:C0205713 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:140453 ! Autosomal dominant hereditary demyelinating motor and sensory neuropathy property_value: alternative:term "Hereditary areflexic dystasia, Roussy-Lévy type" xsd:string [Term] id: Orphanet:31150 name: Tangier disease xref: ICD10:E78.6 xref: MEDDRA:10051875 xref: MESH:D013631 xref: OMIM:205400 xref: SNOMED CT:15346004 xref: UMLS:C0039292 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:207021 ! Rare hereditary systemic disease with peripheral neuropathy relationship: part_of Orphanet:31153 ! Hypoalphalipoproteinemia relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:98711 ! Metabolic disease with corneal opacity property_value: alternative:term "Defective adenosine triphosphate-binding cassette transporter A1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults." xsd:string [Term] id: Orphanet:31153 name: Hypoalphalipoproteinemia xref: ICD10:E78.6 xref: MEDDRA:10065156 xref: MESH:D052456 xref: SNOMED CT:190785000 xref: UMLS:C0473527 is_a: Orphanet:181431 ! Rare hypolipidemia [Term] id: Orphanet:31154 name: Hypobetalipoproteinemia xref: ICD10:E78.6 xref: MESH:D006995 xref: SNOMED CT:190786004 xref: UMLS:C0020597 is_a: Orphanet:181431 ! Rare hypolipidemia [Term] id: Orphanet:311587 name: nuclear receptor coactivator 4 xref: ENSEMBL:ENSG00000138293 xref: GENATLAS:NCOA4 xref: HGNC:7671 xref: OMIM:601984 xref: UNIPROTKB/SWISSPROT:Q13772 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Papillary or follicular thyroid carcinoma property_value: alternative:term "ARA70" xsd:string property_value: alternative:term "DKFZp762E1112" xsd:string property_value: alternative:term "ELE1" xsd:string property_value: alternative:term "PTC3" xsd:string property_value: alternative:term "RET-activating gene ELE1" xsd:string property_value: alternative:term "RFG" xsd:string property_value: symbol "NCOA4" xsd:string [Term] id: Orphanet:311649 name: collagen, type XIV, alpha 1 xref: ENSEMBL:ENSG00000187955 xref: GENATLAS:COL14A1 xref: HGNC:2191 xref: OMIM:120324 xref: REACTOME:Q05707 xref: UNIPROTKB/SWISSPROT:Q05707 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79501 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Punctate palmoplantar keratoderma type 1 property_value: alternative:term "UND" xsd:string property_value: alternative:term "Undulin" xsd:string property_value: symbol "COL14A1" xsd:string [Term] id: Orphanet:3118 name: Rudiger syndrome xref: ICD10:Q87.8 xref: OMIM:268650 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:312 name: Epidermolytic ichthyosis xref: ICD10:Q80.3 xref: OMIM:113800 xref: OMIM:607602 xref: UMLS:C0079153 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:281103 ! Keratinopathic ichthyosis property_value: alternative:term "BCIE" xsd:string property_value: alternative:term "Bullous congenital ichthyosiform erythroderma" xsd:string property_value: alternative:term "Bullous congenital ichthyosiform erythroderma of Brock" xsd:string property_value: alternative:term "Bullous ichthyosis" xsd:string property_value: alternative:term "EHK" xsd:string property_value: alternative:term "EI" xsd:string property_value: alternative:term "Epidermolytic hyperkeratosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic." xsd:string [Term] id: Orphanet:31202 name: Melioidosis xref: ICD10:A24.1 xref: ICD10:A24.2 xref: ICD10:A24.3 xref: ICD10:A24.4 xref: MEDDRA:10069748 xref: MESH:D008554 xref: OMIM:615557 xref: SNOMED CT:428111003 xref: UMLS:C0025229 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease [Term] id: Orphanet:31204 name: Nocardiosis xref: ICD10:A43 xref: MEDDRA:10029444 xref: MESH:C536125 xref: SNOMED CT:29227009 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease [Term] id: Orphanet:31205 name: Rat-bite fever xref: ICD10:A25.0 xref: ICD10:A25.1 xref: ICD10:A25.9 xref: MEDDRA:10037904 xref: MESH:D011906 xref: SNOMED CT:1685005 xref: UMLS:C0034686 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease [Term] id: Orphanet:3121 name: Ruvalcaba syndrome xref: ICD10:Q87.8 xref: OMIM:180870 xref: SNOMED CT:3073006 xref: UMLS:C0265248 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:3123 name: Brittle hair syndrome, Sabinas type is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_33364 with label: Trichothiodystrophy" xsd:string [Term] id: Orphanet:3124 name: Saccharopinuria xref: ICD10:E72.3 xref: MESH:C537218 xref: OMIM:268700 xref: SNOMED CT:111397004 xref: UMLS:C0268556 xref: UMLS:C2936921 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:289832 ! Disorder of lysine and hydroxylysine metabolism property_value: alternative:term "Hyperlysinemia type II" xsd:string property_value: alternative:term "Saccharopine dehydrogenase deficiency" xsd:string [Term] id: Orphanet:312680 name: branched chain ketoacid dehydrogenase kinase xref: ENSEMBL:ENSG00000103507 xref: GENATLAS:BCKDK xref: HGNC:16902 xref: IUPHAR:1939 xref: OMIM:614901 xref: UNIPROTKB/SWISSPROT:O14874 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:308410 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency property_value: symbol "BCKDK" xsd:string [Term] id: Orphanet:3128 name: Sakati-Nyhan syndrome xref: ICD10:Q87.0 xref: OMIM:101120 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "ACPS III" xsd:string property_value: alternative:term "ACPS with leg hypoplasia" xsd:string property_value: alternative:term "Acrocephalopolysyndactyly type 3" xsd:string property_value: alternative:term "Sakati syndrome" xsd:string property_value: alternative:term "Sakati-Nyhan-Tisdale syndrome" xsd:string [Term] id: Orphanet:3129 name: Sarcosinemia xref: ICD10:E72.5 xref: MEDDRA:10059299 xref: MESH:C537236 xref: OMIM:268900 xref: SNOMED CT:64852002 xref: UMLS:C0268563 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:79194 ! Disorder of serine or glycine metabolism property_value: alternative:term "Sarcosine dehydrogenase complex deficiency" xsd:string [Term] id: Orphanet:313 name: Lamellar ichthyosis xref: ICD10:Q80.2 xref: MEDDRA:10023686 xref: MESH:D017490 xref: OMIM:146750 xref: OMIM:242300 xref: OMIM:601277 xref: OMIM:604777 xref: OMIM:612281 xref: OMIM:613943 xref: SNOMED CT:205550003 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:281097 ! Autosomal recessive congenital ichthyosis relationship: part_of Orphanet:98571 ! Secondary ectropion relationship: part_of Orphanet:98698 ! Ichthyosis associated with ocular features property_value: alternative:term "Classic lamellar ichthyosis" xsd:string property_value: alternative:term "Congenital lamellar ichthyosis" xsd:string property_value: alternative:term "LI" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma." xsd:string [Term] id: Orphanet:3132 name: Say-Barber-Miller syndrome xref: ICD10:Q87.8 xref: MESH:C536618 xref: OMIM:251240 xref: UMLS:C2931267 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:331244 ! Other immunodeficiency syndrome with predominantly antibody defects property_value: alternative:term "Microcephaly - hypogammaglobulinemia - abnormal immunity" xsd:string [Term] id: Orphanet:3133 name: Say-Field-Coldwell syndrome xref: ICD10:Q74.8 xref: MESH:C536619 xref: OMIM:190650 xref: UMLS:C1860805 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "Triphalangeal thumbs - dislocation of patella" xsd:string [Term] id: Orphanet:3134 name: SCARF syndrome xref: ICD10:Q82.8 xref: MESH:C536625 xref: OMIM:312830 xref: UMLS:C1839321 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:209 ! Cutis laxa relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:3135 name: Familial Scheuermann disease xref: ICD10:M42.0 xref: OMIM:181440 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: part_of Orphanet:93434 ! Spondylodysplastic dysplasia property_value: alternative:term "Familial Scheuermann juvenile kyphosis" xsd:string property_value: alternative:term "Familial spinal osteochondrosis" xsd:string [Term] id: Orphanet:3137 name: Alpha-N-acetylgalactosaminidase deficiency xref: ICD10:E77.1 xref: OMIM:609241 xref: OMIM:609242 xref: SNOMED CT:238048001 xref: UMLS:C0342850 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:225681 ! Lysosomal disease with epilepsy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79215 ! Oligosaccharidosis property_value: alternative:term "NAGA deficiency" xsd:string property_value: alternative:term "Schindler disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." xsd:string [Term] id: Orphanet:313772 name: Early-onset spastic ataxia-neuropathy syndrome xref: ICD10:G11.4 xref: OMIM:614487 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:316240 ! Autosomal recessive spastic ataxia relationship: part_of Orphanet:35698 ! Mitochondrial DNA depletion syndrome property_value: alternative:term "AFG3L2-associated spastic ataxia-neuropathy syndrome" xsd:string property_value: alternative:term "Autosomal recessive spastic ataxia type 5" xsd:string property_value: alternative:term "SPAX5" xsd:string [Term] id: Orphanet:313781 name: 20p13 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:261992 ! Partial monosomy of the short arm of chromosome 20 property_value: alternative:term "20p subtelomeric deletion syndrome" xsd:string property_value: alternative:term "Del(20)(p13)" xsd:string property_value: alternative:term "Monosomy 20p13" xsd:string [Term] id: Orphanet:313795 name: Jawad syndrome xref: OMIM:251255 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:269528 ! Syndrome with microcephaly as major feature [Term] id: Orphanet:3138 name: Ulnar-mammary syndrome xref: ICD10:Q71.8 xref: MESH:C536937 xref: OMIM:181450 xref: UMLS:C1866994 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:180173 ! Deficient breast volume or number relationship: part_of Orphanet:240371 ! Syndromic obesity relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "Schinzel syndrome" xsd:string property_value: alternative:term "Ulnar-mammary syndrome of Pallister" xsd:string property_value: alternative:term "UMS" xsd:string [Term] id: Orphanet:313800 name: Optic nerve edema-splenomegaly syndrome xref: OMIM:614979 is_a: Orphanet:377792 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:165711 ! Rare abdominal surgical disease relationship: part_of Orphanet:98671 ! Optic neuropathy [Term] id: Orphanet:313808 name: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia xref: OMIM:221820 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68356 ! Leukodystrophy property_value: alternative:term "ALSP" xsd:string property_value: alternative:term "Autosomal dominant leukoencephalopathy with neuroaxonal spheroids" xsd:string property_value: alternative:term "HDLS" xsd:string property_value: alternative:term "Hereditary diffuse leukoencephalopathy with spheroids" xsd:string property_value: alternative:term "Pigmentary orthochromatic leukodystrophy" xsd:string property_value: alternative:term "POLD" xsd:string [Term] id: Orphanet:313822 name: zinc finger protein 423 xref: ENSEMBL:ENSG00000102935 xref: GENATLAS:ZNF423 xref: HGNC:16762 xref: OMIM:604557 xref: UNIPROTKB/SWISSPROT:Q2M1K9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2318 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with oculorenal defect property_value: alternative:term "Early B-cell factor associated zinc finger protein" xsd:string property_value: alternative:term "Ebfaz" xsd:string property_value: alternative:term "KIAA0760" xsd:string property_value: alternative:term "NPHP14" xsd:string property_value: alternative:term "OAZ" xsd:string property_value: alternative:term "OLF-1/EBF associated zinc finger gene" xsd:string property_value: alternative:term "Roaz" xsd:string property_value: alternative:term "Smad- and Olf-interacting zinc finger protein" xsd:string property_value: alternative:term "Zfp104" xsd:string property_value: symbol "ZNF423" xsd:string [Term] id: Orphanet:313834 name: centrosomal protein 164kDa xref: ENSEMBL:ENSG00000110274 xref: GENATLAS:CEP164 xref: HGNC:29182 xref: OMIM:614848 xref: REACTOME:Q9UPV0 xref: UNIPROTKB/SWISSPROT:Q9UPV0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3156 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Senior-Loken syndrome property_value: alternative:term "KIAA1052" xsd:string property_value: alternative:term "NPHP15" xsd:string property_value: symbol "CEP164" xsd:string [Term] id: Orphanet:313838 name: Coats plus syndrome xref: ICD10:H35.0 xref: OMIM:612199 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183503 ! Genetic central nervous system and retinal vascular disease relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease relationship: part_of Orphanet:98669 ! Congenital vitreoretinal dysplasia property_value: alternative:term "Cerebroretinal microangiopathy with calcifications and cysts" xsd:string property_value: alternative:term "CRMCC" xsd:string [Term] id: Orphanet:313846 name: Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome xref: OMIM:614564 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:183478 ! Genetic skin vascular disease relationship: part_of Orphanet:79379 ! Skin vascular disease [Term] id: Orphanet:313850 name: Infantile cerebellar-retinal degeneration xref: ICD10:E88.8 xref: OMIM:614559 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:254749 ! Tricarboxylic acid cycle disorder relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:71862 ! Retinal dystrophy property_value: alternative:term "Mitochondrial aconitase deficiency" xsd:string [Term] id: Orphanet:313855 name: FGFR2-related bent bone dysplasia xref: OMIM:614592 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93439 ! Bent bone dysplasia property_value: alternative:term "Perinatal lethal bent bone dysplasia" xsd:string [Term] id: Orphanet:313884 name: 12p12.1 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:316244 ! Partial deletion of the short arm of chromosome 12 property_value: alternative:term "Del(12)(p12.1)" xsd:string property_value: alternative:term "Monosomy 12p12.1" xsd:string [Term] id: Orphanet:313892 name: Developmental and speech delay due to SOX5 deficiency is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:313906 name: Congenital pancreatic cyst xref: ICD10:Q45.2 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101937 ! Rare pancreatic disease property_value: alternative:term "Neonatal congenital pancreatic cyst" xsd:string property_value: alternative:term "True congenital pancreatic cyst" xsd:string [Term] id: Orphanet:313920 name: Epstein-Barr virus-associated gastric carcinoma xref: ICD10:C16 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:289651 ! Epstein-Barr Virus-associated carcinoma relationship: part_of Orphanet:63443 ! Gastric cancer property_value: alternative:term "EBV-associated gastric carcinoma" xsd:string property_value: alternative:term "EBVaGC" xsd:string [Term] id: Orphanet:313936 name: PENS syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:294057 ! Rare nevus property_value: alternative:term "Papular epidermal nevi with skyline basal cell layers syndrome" xsd:string [Term] id: Orphanet:313947 name: 2q23.1 microduplication syndrome xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:262842 ! Partial duplication of the long arm of chromosome 2 property_value: alternative:term "Dup(2)(q23.1)" xsd:string property_value: alternative:term "Trisomy 2q23.1" xsd:string [Term] id: Orphanet:314 name: Erythroderma desquamativum xref: ICD10:L21.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:183494 ! Genetic immune deficiency with skin involvement relationship: part_of Orphanet:79391 ! Immune deficiency with skin involvement property_value: alternative:term "Leiner disease" xsd:string [Term] id: Orphanet:314002 name: Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Dinno syndrome" xsd:string [Term] id: Orphanet:314017 name: Idiopathic linear interstitial keratitis xref: ICD10:H16.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101949 ! Rare acquired eye disease [Term] id: Orphanet:314022 name: Gastric adenocarcinoma and proximal polyposis of the stomach is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101936 ! Rare gastro-esophageal disease relationship: part_of Orphanet:98059 ! Rare digestive tumor property_value: alternative:term "Familial fundic gland polyposis with gastric cancer" xsd:string property_value: alternative:term "GAPPS" xsd:string [Term] id: Orphanet:314029 name: High bone mass osteogenesis imperfecta xref: ICD10:Q78.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density property_value: alternative:term "High bone mass OI" xsd:string [Term] id: Orphanet:314034 name: 7p22.1 microduplication syndrome xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:262749 ! Partial duplication of the short arm of chromosome 7 property_value: alternative:term "Dup(7)(p22.1)" xsd:string property_value: alternative:term "Trisomy 7p22.1" xsd:string [Term] id: Orphanet:314041 name: Marfanoid habitus - inguinal hernia - advanced bone age is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139030 ! Malformation syndrome with connective tissue involvement [Term] id: Orphanet:314051 name: Leukoencephalopathy - thalamus and brainstem anomalies - high lactate xref: OMIM:614924 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis relationship: part_of Orphanet:68356 ! Leukodystrophy property_value: alternative:term "LTBL" xsd:string [Term] id: Orphanet:3143 name: Autoimmune polyendocrinopathy type 2 xref: ICD10:E31.0 xref: OMIM:269200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101963 ! Acquired chronic primary adrenal insufficiency relationship: part_of Orphanet:282196 ! Autoimmune polyendocrinopathy relationship: part_of Orphanet:95709 ! Acquired premature ovarian failure property_value: alternative:term "APS type 2" xsd:string property_value: alternative:term "APS2" xsd:string property_value: alternative:term "Autoimmune polyendocrine syndrome type 2" xsd:string property_value: alternative:term "Autoimmune polyglandular syndrome type 2" xsd:string property_value: alternative:term "Autoimmune thyroid disease and/or type 1 diabetes - Addison disease" xsd:string property_value: alternative:term "Schmidt syndrome" xsd:string [Term] id: Orphanet:314373 name: Chronic diarrhea due to guanylate cyclase 2C overactivity xref: ICD10:P78.3 xref: OMIM:614616 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:104009 ! Congenital intestinal motility disorder [Term] id: Orphanet:314376 name: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency xref: ICD10:P76.0 xref: OMIM:614665 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:104009 ! Congenital intestinal motility disorder property_value: alternative:term "Meconium ileus due to guanylate cyclase 2C deficiency" xsd:string [Term] id: Orphanet:314381 name: Hereditary sensory and autonomic neuropathy type 6 xref: ICD10:G60.8 xref: OMIM:614653 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:140477 ! Autosomal recessive hereditary sensory and autonomic neuropathy property_value: alternative:term "Familial dysautonomia with contractures" xsd:string property_value: alternative:term "HSAN6" xsd:string [Term] id: Orphanet:314389 name: Xq12-q13.3 duplication syndrome xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:180772 ! Rare disease with autism relationship: part_of Orphanet:263783 ! Partial duplication of the long arm of chromosome X property_value: alternative:term "Dup(X)(q12-q13.3)" xsd:string [Term] id: Orphanet:314394 name: Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome xref: ICD10:Q87.1 xref: OMIM:614813 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93440 ! Slender bone dysplasia property_value: alternative:term "SOFT syndrome" xsd:string [Term] id: Orphanet:314399 name: Autosomal dominant aplasia and myelodysplasia xref: OMIM:614675 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68383 ! Rare constitutional medullar aplasia property_value: alternative:term "Autosomal dominant aplastic anemia and myelodysplasia" xsd:string [Term] id: Orphanet:3144 name: Schneckenbecken dysplasia xref: ICD10:Q77.7 xref: MESH:C536637 xref: OMIM:269250 xref: SNOMED CT:254049009 xref: UMLS:C0432194 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:309463 ! Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis relationship: part_of Orphanet:371195 ! Congenital disorder of glycosylation-related bone disorder relationship: part_of Orphanet:93434 ! Spondylodysplastic dysplasia property_value: alternative:term "Chondrodysplasia with snail-like pelvis" xsd:string property_value: alternative:term "SLC35D1-CDG" xsd:string [Term] id: Orphanet:314404 name: Cerebellar ataxia-deafness-narcolepsy syndrome xref: OMIM:604121 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68354 ! Sleep disorder relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "ADCA-DN" xsd:string property_value: alternative:term "Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome" xsd:string [Term] id: Orphanet:314419 name: Ameloblastoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:314425 ! Rare odontologic tumor [Term] id: Orphanet:314422 name: Ameloblastic carcinoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:314425 ! Rare odontologic tumor [Term] id: Orphanet:314425 name: Rare odontologic tumor is_a: Orphanet:98026 ! Rare odontologic disease is_a: Orphanet:98057 ! Rare tumor [Term] id: Orphanet:314432 name: Spigelian hernia-cryptorchidism syndrome is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108979 ! Syndromic diaphragmatic or abdominal wall malformation [Term] id: Orphanet:314451 name: Meigs syndrome xref: ICD10:D27 is_a: Orphanet:377792 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:97293 ! Rare benign ovarian tumor property_value: alternative:term "Demons-Meigs syndrome" xsd:string [Term] id: Orphanet:314459 name: Pseudo-Meigs syndrome xref: ICD10:D27 is_a: Orphanet:377792 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:97293 ! Rare benign ovarian tumor property_value: alternative:term "Pseudo-Demons-Meigs syndrome" xsd:string [Term] id: Orphanet:314466 name: Atypical Meigs syndrome xref: ICD10:D27 is_a: Orphanet:377792 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:97293 ! Rare benign ovarian tumor property_value: alternative:term "Atypical Demons-Meigs syndrome" xsd:string [Term] id: Orphanet:314473 name: Ovarian fibroma xref: ICD10:D27 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:97293 ! Rare benign ovarian tumor [Term] id: Orphanet:314478 name: Ovarian fibrothecoma xref: ICD10:D27 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:97293 ! Rare benign ovarian tumor [Term] id: Orphanet:314485 name: Young adult-onset distal hereditary motor neuropathy xref: ICD10:G12.2 xref: OMIM:614881 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:140468 ! Autosomal recessive distal hereditary motor neuropathy property_value: alternative:term "Autosomal recessive distal spinal muscular atrophy type 5" xsd:string property_value: alternative:term "dSMA5" xsd:string property_value: alternative:term "Young adult-onset dHMN" xsd:string [Term] id: Orphanet:3145 name: Nephrogenic diabetes insipidus - intracranial calcification xref: OMIM:221995 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:183592 ! Genetic renal tubular disease relationship: part_of Orphanet:93603 ! Rare renal tubular disease property_value: alternative:term "Schofer-Beetz-Bohl syndrome" xsd:string [Term] id: Orphanet:314555 name: Craniofacial dysplasia-osteopenia syndrome xref: OMIM:611174 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183542 ! Genetic cranial malformation relationship: part_of Orphanet:98038 ! Cranial malformation property_value: alternative:term "Hamamy syndrome" xsd:string [Term] id: Orphanet:314566 name: Primary progressive apraxia of speech is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease property_value: alternative:term "PPAOS" xsd:string [Term] id: Orphanet:314572 name: Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183503 ! Genetic central nervous system and retinal vascular disease relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa [Term] id: Orphanet:314575 name: Intellectual deficit-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly [Term] id: Orphanet:314585 name: 15q overgrowth syndrome xref: ICD10:Q87.3 xref: OMIM:614846 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:262950 ! Partial duplication of the long arm of chromosome 15 relationship: part_of Orphanet:93461 ! Chromosomal disease with overgrowth relationship: part_of Orphanet:98642 ! Chromosomal anomaly with cataract [Term] id: Orphanet:314588 name: Distal tetrasomy 15q xref: ICD10:Q99.8 xref: OMIM:614846 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:314585 ! 15q overgrowth syndrome property_value: alternative:term "Tetrasomy 15(q25-qter)" xsd:string property_value: alternative:term "Tetrasomy 15q26" xsd:string [Term] id: Orphanet:314597 name: Chudley-McCullough syndrome xref: OMIM:604213 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature relationship: part_of Orphanet:269564 ! Genetic syndrome with a central nervous system malformation as major feature relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:314603 name: Autosomal recessive spastic ataxia with leukoencephalopathy xref: ICD10:G11.4 xref: OMIM:611390 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:316240 ! Autosomal recessive spastic ataxia relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: alternative:term "ARSAL" xsd:string property_value: alternative:term "Autosomal recessive spastic ataxia type 3" xsd:string property_value: alternative:term "SPAX3" xsd:string [Term] id: Orphanet:314613 name: Growing teratoma syndrome is_a: Orphanet:377793 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! particular clinical situation in a disease or syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:99913 ! Extragonadal non-dysgerminomatous germ cell tumor [Term] id: Orphanet:314621 name: Duplication of the pituitary gland xref: ICD10:Q89.2 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181384 ! Rare hypothalamic or pituitary disease relationship: part_of Orphanet:268926 ! Midline cerebral malformation property_value: alternative:term "DPG-plus syndrome" xsd:string property_value: alternative:term "Duplication of the pituitary gland-plus syndrome" xsd:string property_value: alternative:term "Hypophyseal duplication" xsd:string [Term] id: Orphanet:314629 name: CLN11 disease xref: ICD10:E75.4 xref: OMIM:614706 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79262 ! Adult neuronal ceroid lipofuscinosis [Term] id: Orphanet:314632 name: Parkinsonim due to ATP13A2 deficiency xref: ICD10:E75.4 xref: OMIM:606693 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:216 ! Neuronal ceroid lipofuscinosis relationship: part_of Orphanet:306666 ! Rare parkinsonian syndrome due to neurodegenerative disease relationship: part_of Orphanet:307055 ! Rare parkinsonian syndrome due to genetic neurodegenerative disease property_value: alternative:term "CLN12 disease" xsd:string [Term] id: Orphanet:314637 name: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency xref: ICD10:I42.2 xref: OMIM:614702 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:217587 ! Mitochondrial disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: alternative:term "Combined oxidative phosphorylation defect type 10" xsd:string property_value: alternative:term "Combined OXPHOS defect type 10" xsd:string property_value: alternative:term "Combined OXPHOS deficiency type 10" xsd:string property_value: alternative:term "COXPD10" xsd:string [Term] id: Orphanet:314647 name: Non-progressive cerebellar ataxia with intellectual deficit xref: ICD10:G11.0 xref: OMIM:614756 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:94148 ! Autosomal dominant cerebellar ataxia type 3 [Term] id: Orphanet:314652 name: Autosomal dominant beta2-microglobulinic amyloidosis xref: ICD10:E85.1 xref: OMIM:105200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:271870 ! Rare genetic systemic or rheumatologic disease relationship: part_of Orphanet:69 ! Amyloidosis [Term] id: Orphanet:314655 name: 5q31.3 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:262038 ! Partial deletion of the long arm of chromosome 5 property_value: alternative:term "Del(5)(q31.3)" xsd:string property_value: alternative:term "Monosomy 5q31.3" xsd:string [Term] id: Orphanet:314662 name: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93460 ! Overgrowth syndrome [Term] id: Orphanet:314667 name: TMEM165-CDG xref: ICD10:E77.8 xref: OMIM:614727 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371047 ! Congenital disorder of glycosylation with neurological involvement relationship: part_of Orphanet:371157 ! Congenital disorder of glycosylation with hepatic involvement relationship: part_of Orphanet:371195 ! Congenital disorder of glycosylation-related bone disorder relationship: part_of Orphanet:93446 ! Primary bone dysplasia with decreased bone density property_value: alternative:term "CDG syndrome type 2k" xsd:string property_value: alternative:term "CDG syndrome type IIk" xsd:string property_value: alternative:term "CDG-IIk" xsd:string property_value: alternative:term "CDG2K" xsd:string [Term] id: Orphanet:314679 name: Cerebro-facio-articular syndrome xref: OMIM:601390 xref: OMIM:615546 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly property_value: alternative:term "Van Maldergem syndrome" xsd:string [Term] id: Orphanet:314684 name: Primary bone lymphoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:279911 ! Primary organ-specific lymphoma [Term] id: Orphanet:314689 name: Combined immunodeficiency due to STK4 deficiency xref: ICD10:D81.8 xref: OMIM:614868 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency property_value: alternative:term "CID due to STK4 deficiency" xsd:string [Term] id: Orphanet:314697 name: Acquired porencephaly xref: ICD10:G93.0 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:2940 ! Porencephaly [Term] id: Orphanet:314701 name: Primary systemic amyloidosis xref: ICD10:E85.0 xref: ICD10:E85.1 xref: ICD10:E85.2 xref: ICD10:E85.3 xref: OMIM:254500 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:85443 ! AL amyloidosis property_value: alternative:term "Systemic AL amyloidosis" xsd:string property_value: alternative:term "Systemic immunoglobulinic amyloidosis" xsd:string [Term] id: Orphanet:314709 name: Primary localized amyloidosis xref: ICD10:E85.4 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:85443 ! AL amyloidosis property_value: alternative:term "Localized AL amyloidosis" xsd:string property_value: alternative:term "Localized immunoglobulinic amyloidosis" xsd:string [Term] id: Orphanet:314718 name: Lethal arteriopathy syndrome due to FBLN4 deficiency is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:233655 ! Rare genetic vascular disease relationship: part_of Orphanet:68362 ! Rare vascular disease [Term] id: Orphanet:314721 name: Atypical dentin dysplasia due to SMOC2 deficiency xref: ICD10:K00.5 xref: OMIM:125400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:1653 ! Dentin dysplasia property_value: alternative:term "Dentin dysplasia type 1 with microdontia and shape anomalies" xsd:string [Term] id: Orphanet:314731 name: matrix metallopeptidase 14 (membrane-inserted) xref: ENSEMBL:ENSG00000157227 xref: GENATLAS:MMP14 xref: HGNC:7160 xref: IUPHAR:1638 xref: OMIM:600754 xref: REACTOME:P50281 xref: UNIPROTKB/SWISSPROT:P50281 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3460 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Torg-Winchester syndrome relationship: Orphanet:317343 Orphanet:85196 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Nodulosis-arthropathy-osteolysis syndrome property_value: alternative:term "Matrix metalloproteinase 14 (membrane-inserted)" xsd:string property_value: alternative:term "Membrane type 1 metalloprotease" xsd:string property_value: alternative:term "MT1-MMP" xsd:string property_value: symbol "MMP14" xsd:string [Term] id: Orphanet:314749 name: Rare disease with Cushing syndrome as a major feature is_a: Orphanet:553 ! Cushing syndrome [Term] id: Orphanet:314753 name: Functioning pituitary adenoma is_a: Orphanet:99408 ! Pituitary adenoma property_value: alternative:term "Endocrine active pituitary adenoma" xsd:string property_value: alternative:term "Secreting pituitary adenoma" xsd:string [Term] id: Orphanet:314759 name: Mixed functioning pituitary adenoma is_a: Orphanet:314753 ! Functioning pituitary adenoma property_value: alternative:term "Mixed secreting pituitary adenoma" xsd:string [Term] id: Orphanet:314769 name: Somatomammotropinoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:314759 ! Mixed functioning pituitary adenoma property_value: alternative:term "GH and PRL cosecreting pituitary adenoma" xsd:string property_value: alternative:term "Growth hormone and prolactin cosecreting pituitary adenoma" xsd:string [Term] id: Orphanet:314777 name: Familial isolated pituitary adenoma xref: ICD10:D35.2 xref: OMIM:102200 xref: OMIM:600634 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:99408 ! Pituitary adenoma property_value: alternative:term "FIPA" xsd:string [Term] id: Orphanet:314786 name: Silent pituitary adenoma xref: ICD10:D35.2 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:91349 ! Non-functioning pituitary adenoma [Term] id: Orphanet:314790 name: Null pituitary adenoma xref: ICD10:D35.2 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:91349 ! Non-functioning pituitary adenoma [Term] id: Orphanet:314795 name: Shox-related short stature xref: ICD10:Q87.1 xref: OMIM:300582 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93438 ! Mesomelic and rhizo-mesomelic dysplasia [Term] id: Orphanet:3148 name: Malignant peripheral nerve sheath tumor is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:252057 ! Tumor of cranial and spinal nerves relationship: part_of Orphanet:3394 ! Soft tissue sarcoma property_value: alternative:term "Malignant neurilemmoma" xsd:string property_value: alternative:term "Malignant neurofibroma" xsd:string property_value: alternative:term "Malignant schwannoma" xsd:string property_value: alternative:term "MPNST" xsd:string property_value: alternative:term "Neurofibrosarcoma" xsd:string property_value: alternative:term "Neurogenic sarcoma" xsd:string [Term] id: Orphanet:314802 name: Short stature due to partial GHR deficiency xref: ICD10:E34.3 xref: OMIM:604271 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:181393 ! Growth hormone insensitivity syndrome property_value: alternative:term "Short stature due to partial growth hormone receptor deficiency" xsd:string [Term] id: Orphanet:314811 name: Short stature due to GHSR deficiency xref: ICD10:E34.3 xref: OMIM:604271 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:95488 ! Nonacquired pituitary hormone deficiency property_value: alternative:term "Short stature due to growth hormone secretagogue receptor deficiency" xsd:string [Term] id: Orphanet:314822 name: Primary renal tubular acidosis xref: ICD10:N25.8 is_a: Orphanet:183592 ! Genetic renal tubular disease is_a: Orphanet:93603 ! Rare renal tubular disease [Term] id: Orphanet:314889 name: Autosomal dominant proximal renal tubular acidosis xref: ICD10:N25.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:47159 ! Proximal renal tubular acidosis property_value: alternative:term "AD pRTA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with mild growth retardation and reduced bone density." xsd:string [Term] id: Orphanet:314894 name: vesicle-associated membrane protein 1 (synaptobrevin 1) xref: ENSEMBL:ENSG00000139190 xref: GENATLAS:VAMP1 xref: HGNC:12642 xref: OMIM:185880 xref: REACTOME:P23763 xref: UNIPROTKB/SWISSPROT:P23763 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:251282 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant spastic ataxia 1 property_value: alternative:term "SYB1" xsd:string property_value: alternative:term "VAMP-1" xsd:string property_value: symbol "VAMP1" xsd:string [Term] id: Orphanet:314911 name: Severe Canavan disease xref: ICD10:E75.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:141 ! Canavan disease property_value: alternative:term "Infantile Canavan disease" xsd:string property_value: alternative:term "Neonatal Canavan disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia." xsd:string [Term] id: Orphanet:314918 name: Mild Canavan disease xref: ICD10:E75.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:141 ! Canavan disease property_value: alternative:term "Juvenile Canavan disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development." xsd:string [Term] id: Orphanet:314928 name: Normal pressure hydrocephalus xref: ICD10:G91.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:89043 ! Rare dementia property_value: alternative:term "Chronic adult hydrocephalus" xsd:string property_value: alternative:term "NPH" xsd:string [Term] id: Orphanet:314938 name: thrombospondin-type laminin G domain and EAR repeats xref: ENSEMBL:ENSG00000175894 xref: GENATLAS:TSPEAR xref: HGNC:1268 xref: OMIM:612920 xref: UNIPROTKB/SWISSPROT:Q8WU66 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "C21orf29" xsd:string property_value: alternative:term "Chromosome 21 open reading frame 29" xsd:string property_value: alternative:term "Deafness, autosomal recessive 98" xsd:string property_value: alternative:term "DFNB98" xsd:string property_value: alternative:term "MGC11251" xsd:string property_value: alternative:term "TSP-EAR" xsd:string property_value: symbol "TSPEAR" xsd:string [Term] id: Orphanet:314946 name: Mycobacterium xenopi infection xref: ICD10:A31.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease [Term] id: Orphanet:314950 name: Primary hypereosinophilic syndrome xref: ICD10:D47.5 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:168956 ! Hypereosinophilic syndrome property_value: alternative:term "Clonal hypereosinophilic syndrome" xsd:string property_value: alternative:term "HES-M" xsd:string property_value: alternative:term "HES-N" xsd:string property_value: alternative:term "Neoplastic hypereosinophilic syndrome" xsd:string property_value: alternative:term "Primary HES" xsd:string [Term] id: Orphanet:314962 name: Secondary hypereosinophilic syndrome xref: ICD10:D47.5 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:168956 ! Hypereosinophilic syndrome property_value: alternative:term "HES-R" xsd:string property_value: alternative:term "Reactive hypereosinophilic syndrome" xsd:string property_value: alternative:term "Secondary HES" xsd:string [Term] id: Orphanet:314970 name: Lymphoid hypereosinophilic syndrome xref: ICD10:D47.5 is_a: Orphanet:314962 ! Secondary hypereosinophilic syndrome relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "HES-L" xsd:string property_value: alternative:term "Lymphoid HES" xsd:string [Term] id: Orphanet:314978 name: X-linked non progressive cerebellar ataxia xref: ICD10:G11.0 xref: OMIM:300703 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:247765 ! X-linked cerebellar ataxia [Term] id: Orphanet:314993 name: Cataract-congenital heart disease-neural tube defect syndrome xref: OMIM:608227 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature relationship: part_of Orphanet:269564 ! Genetic syndrome with a central nervous system malformation as major feature relationship: part_of Orphanet:98641 ! Syndromic cataract [Term] id: Orphanet:315 name: Erythrokeratoderma \"en cocardes\" xref: ICD10:Q82.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183438 ! Genetic erythrokeratoderma relationship: part_of Orphanet:79355 ! Erythrokeratoderma property_value: alternative:term "Degos genodermatosis \"en cocardes\"" xsd:string [Term] id: Orphanet:3151 name: Multiple sclerosis - ichthyosis - factor VIII deficiency xref: ICD10:D66 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:281244 ! Autosomal ichthyosis syndrome with other associated signs relationship: part_of Orphanet:68334 ! Rare hemorrhagic disorder due to a constitutional coagulation factors defect [Term] id: Orphanet:3152 name: Sclerosteosis xref: ICD10:M85.2 xref: MESH:C537525 xref: OMIM:269500 xref: OMIM:614305 xref: SNOMED CT:17568006 xref: UMLS:C0265301 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density property_value: alternative:term "Cortical hyperostosis - syndactyly" xsd:string [Term] id: Orphanet:315306 name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form xref: ICD10:E25.0 is_a: Orphanet:90794 ! Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "Classic 21-OHD CAH, salt wasting form" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency." xsd:string [Term] id: Orphanet:315311 name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form xref: ICD10:E25.0 is_a: Orphanet:90794 ! Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "Classic 21-OHD CAH, simple virilizing form" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH; see this term) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting." xsd:string [Term] id: Orphanet:315350 name: Autoimmune disease with skin involvement is_a: Orphanet:89826 ! Rare skin disease [Term] id: Orphanet:315385 name: phenylalanyl-tRNA synthetase 2, mitochondrial xref: ENSEMBL:ENSG00000145982 xref: GENATLAS:FARS2 xref: HGNC:21062 xref: OMIM:611592 xref: REACTOME:O95363 xref: UNIPROTKB/SWISSPROT:O95363 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319519 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined oxidative phosphorylation defect type 14 property_value: alternative:term "dJ236A3.1" xsd:string property_value: alternative:term "FARS1" xsd:string property_value: alternative:term "Phenylalanine tRNA ligase 2, mitochondrial" xsd:string property_value: alternative:term "Phenylalanine-tRNA synthetase 1 (mitochondrial)" xsd:string property_value: symbol "FARS2" xsd:string [Term] id: Orphanet:315395 name: dishevelled-binding antagonist of beta-catenin 1 xref: ENSEMBL:ENSG00000165617 xref: GENATLAS:DACT1 xref: HGNC:17748 xref: OMIM:607861 xref: UNIPROTKB/SWISSPROT:Q9NYF0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:268823 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Occipital encephalocele relationship: Orphanet:317343 Orphanet:63260 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Craniorachischisis property_value: alternative:term "DAPPER" xsd:string property_value: alternative:term "Dapper homolog 1, antagonist of beta-catenin (xenopus)" xsd:string property_value: alternative:term "Dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)" xsd:string property_value: alternative:term "DAPPER1" xsd:string property_value: alternative:term "FRODO" xsd:string property_value: alternative:term "HDPR1" xsd:string property_value: alternative:term "THYEX3" xsd:string property_value: symbol "DACT1" xsd:string [Term] id: Orphanet:315413 name: ATP-binding cassette, sub-family D (ALD), member 4 xref: ENSEMBL:ENSG00000119688 xref: GENATLAS:ABCD4 xref: HGNC:68 xref: OMIM:603214 xref: UNIPROTKB/SWISSPROT:O14678 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:369955 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Methylmalonic acidemia with homocystinuria, type cblJ property_value: alternative:term "EST352188" xsd:string property_value: alternative:term "P70R" xsd:string property_value: alternative:term "PMP69" xsd:string property_value: alternative:term "PXMP1L" xsd:string property_value: symbol "ABCD4" xsd:string [Term] id: Orphanet:315421 name: HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 xref: ENSEMBL:ENSG00000085382 xref: GENATLAS:HACE1 xref: HGNC:21033 xref: OMIM:610876 xref: UNIPROTKB/SWISSPROT:Q8IYU2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:635 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Neuroblastoma property_value: alternative:term "KIAA1320" xsd:string property_value: symbol "HACE1" xsd:string [Term] id: Orphanet:315424 name: lin-28 homolog B (C. elegans) xref: ENSEMBL:ENSG00000187772 xref: GENATLAS:LIN28B xref: HGNC:32207 xref: OMIM:611044 xref: UNIPROTKB/SWISSPROT:Q6ZN17 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:635 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Neuroblastoma property_value: alternative:term "CSDD2" xsd:string property_value: alternative:term "FLJ16517" xsd:string property_value: symbol "LIN28B" xsd:string [Term] id: Orphanet:315470 name: ISG15 ubiquitin-like modifier xref: ENSEMBL:ENSG00000187608 xref: GENATLAS:ISG15 xref: HGNC:4053 xref: OMIM:147571 xref: REACTOME:P05161 xref: UNIPROTKB/SWISSPROT:P05161 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319563 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency property_value: alternative:term "G1P2" xsd:string property_value: alternative:term "IFI15" xsd:string property_value: alternative:term "Interferon, alpha-inducible protein (clone IFI-15K)" xsd:string property_value: alternative:term "UCRP" xsd:string property_value: symbol "ISG15" xsd:string [Term] id: Orphanet:315478 name: interferon regulatory factor 8 xref: ENSEMBL:ENSG00000140968 xref: GENATLAS:IRF8 xref: HGNC:5358 xref: OMIM:601565 xref: REACTOME:Q02556 xref: UNIPROTKB/SWISSPROT:Q02556 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319600 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency property_value: alternative:term "ICSBP" xsd:string property_value: alternative:term "ICSBP1" xsd:string property_value: alternative:term "Interferon consensus sequence binding protein 1" xsd:string property_value: alternative:term "IRF-8" xsd:string property_value: symbol "IRF8" xsd:string [Term] id: Orphanet:3156 name: Senior-Loken syndrome xref: ICD10:Q61.5 xref: MESH:C537580 xref: OMIM:266900 xref: OMIM:606995 xref: OMIM:606996 xref: OMIM:609254 xref: OMIM:610189 xref: OMIM:613615 xref: OMIM:614845 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:93587 ! Familial cystic renal disease relationship: part_of Orphanet:98657 ! Genetic vitreous-retinal disease property_value: alternative:term "Nephronophthisis with retinal dystrophy" xsd:string property_value: alternative:term "Renal dysplasia - retinal aplasia" xsd:string property_value: alternative:term "SLSN" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy." xsd:string [Term] id: Orphanet:3157 name: Septo-optic dysplasia xref: ICD10:Q04.8 xref: MEDDRA:10067159 xref: MESH:D025962 xref: OMIM:182230 xref: SNOMED CT:7611002 xref: UMLS:C0338503 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:137905 ! Syndromic optic nerve hypoplasia relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature relationship: part_of Orphanet:269564 ! Genetic syndrome with a central nervous system malformation as major feature relationship: part_of Orphanet:95495 ! Disease associated with nonacquired combined pituitary hormone deficiency relationship: part_of Orphanet:98558 ! Rare eye disease due to a differentiation anomaly relationship: part_of Orphanet:98692 ! Nervous system anomaly with eye involvement property_value: alternative:term "De Morsier syndrome" xsd:string property_value: alternative:term "Septo-optic dysplasia spectrum" xsd:string property_value: alternative:term "SOD" xsd:string [Term] id: Orphanet:315787 name: cancer susceptibility candidate 5 xref: ENSEMBL:ENSG00000137812 xref: GENATLAS:CASC5 xref: HGNC:24054 xref: OMIM:609173 xref: REACTOME:Q8NG31 xref: UNIPROTKB/SWISSPROT:Q8NG31 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2512 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive primary microcephaly property_value: alternative:term "AF15Q14" xsd:string property_value: alternative:term "Blinkin, bub-linking kinetochore protein" xsd:string property_value: alternative:term "Cancer/testis antigen 29" xsd:string property_value: alternative:term "CT29" xsd:string property_value: alternative:term "D40" xsd:string property_value: alternative:term "hKNL-1" xsd:string property_value: alternative:term "hSpc105" xsd:string property_value: alternative:term "Kinetochore null 1 homolog (C. elegans)" xsd:string property_value: alternative:term "KNL1" xsd:string property_value: alternative:term "PPP1R55" xsd:string property_value: alternative:term "Protein phosphatase 1, regulatory subunit 55" xsd:string property_value: alternative:term "Spc7" xsd:string property_value: symbol "CASC5" xsd:string [Term] id: Orphanet:315800 name: HEAT repeat containing 2 xref: ENSEMBL:ENSG00000164818 xref: GENATLAS:HEATR2 xref: HGNC:26013 xref: OMIM:614864 xref: UNIPROTKB/SWISSPROT:Q86Y56 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "CILD18" xsd:string property_value: alternative:term "FLJ20397" xsd:string property_value: alternative:term "FLJ25564" xsd:string property_value: alternative:term "FLJ31671" xsd:string property_value: alternative:term "FLJ39381" xsd:string property_value: symbol "HEATR2" xsd:string [Term] id: Orphanet:316 name: Progressive symmetric erythrokeratodermia xref: ICD10:Q82.8 xref: OMIM:133200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:308166 ! Erythrokeratoderma variabilis progressiva relationship: part_of Orphanet:98352 ! Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature property_value: alternative:term "Darier-Gottron disease" xsd:string property_value: alternative:term "Progressiva symmetrica erythrokeratodermia" xsd:string property_value: alternative:term "Progressive symmetric erythrokeratodermia, Gottron type" xsd:string [Term] id: Orphanet:316081 name: POC1 centriolar protein A xref: ENSEMBL:ENSG00000164087 xref: GENATLAS:POC1A xref: HGNC:24488 xref: OMIM:614783 xref: UNIPROTKB/SWISSPROT:Q8NBT0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314394 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome property_value: alternative:term "DKFZP434C245" xsd:string property_value: alternative:term "POC1 centriolar protein homolog A (Chlamydomonas)" xsd:string property_value: alternative:term "WD repeat domain 51A" xsd:string property_value: alternative:term "WDR51A" xsd:string property_value: symbol "POC1A" xsd:string [Term] id: Orphanet:3161 name: Congenital pulmonary sequestration xref: ICD10:Q33.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:108993 ! Nonsyndromic respiratory or mediastinal malformation relationship: part_of Orphanet:182111 ! Respiratory malformation property_value: alternative:term "Congenital bronchopulmonary sequestration" xsd:string [Term] id: Orphanet:3162 name: Sézary syndrome xref: ICD10:C84.1 xref: MEDDRA:10040493 xref: MESH:D012751 xref: SNOMED CT:118611004 xref: SNOMED CT:4950009 xref: UMLS:C0036920 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:178551 ! Aggressive primary cutaneous T-cell lymphoma property_value: alternative:term "Sézary lymphoma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells)." xsd:string [Term] id: Orphanet:316226 name: Spastic ataxia xref: ICD10:G11.4 is_a: Orphanet:183518 ! Rare hereditary ataxia property_value: alternative:term "SPAX" xsd:string [Term] id: Orphanet:316235 name: Autosomal dominant spastic ataxia xref: ICD10:G11.4 is_a: Orphanet:316226 ! Spastic ataxia property_value: alternative:term "AD-SPAX" xsd:string [Term] id: Orphanet:316240 name: Autosomal recessive spastic ataxia xref: ICD10:G11.8 is_a: Orphanet:316226 ! Spastic ataxia property_value: alternative:term "AR-SPAX" xsd:string [Term] id: Orphanet:316244 name: Partial deletion of the short arm of chromosome 12 xref: ICD10:Q93.5 is_a: Orphanet:282124 ! Partial deletion of chromosome 12 property_value: alternative:term "Partial deletion of chromosome 12p" xsd:string property_value: alternative:term "Partial monosomy of chromosome 12p" xsd:string property_value: alternative:term "Partial monosomy of the short arm of chromosome 12" xsd:string [Term] id: Orphanet:3163 name: SHORT syndrome xref: ICD10:Q87.1 xref: MESH:C537327 xref: OMIM:269880 xref: UMLS:C0878684 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:139021 ! Malformation syndrome with short stature relationship: part_of Orphanet:139033 ! Progeroid syndrome relationship: part_of Orphanet:183570 ! Genetic malformation syndrome with short stature relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:363245 ! Genetic progeroid syndrome relationship: part_of Orphanet:98305 ! Genetic lipodystrophy relationship: part_of Orphanet:98622 ! Syndromic hyperopia relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature property_value: alternative:term "Aarskog-Ose-Pande syndrome" xsd:string property_value: alternative:term "Lipodystrophy - Rieger anomaly - diabetes" xsd:string property_value: alternative:term "Rieger anomaly - partial lipodystrophy" xsd:string [Term] id: Orphanet:316325 name: Usher syndrome 1H (autosomal recessive) xref: HGNC:22433 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231169 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Usher syndrome type 1 property_value: symbol "USH1H" xsd:string [Term] id: Orphanet:316333 name: calcium and integrin binding family member 2 xref: ENSEMBL:ENSG00000136425 xref: GENATLAS:CIB2 xref: HGNC:24579 xref: OMIM:605564 xref: UNIPROTKB/SWISSPROT:O75838 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231169 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Usher syndrome type 1 relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "Deafness, autosomal recessive 48" xsd:string property_value: alternative:term "DFNB48" xsd:string property_value: alternative:term "KIP2" xsd:string property_value: alternative:term "USH1J" xsd:string property_value: alternative:term "Usher syndrome 1J (autosomal recessive)" xsd:string property_value: symbol "CIB2" xsd:string [Term] id: Orphanet:316341 name: HYDIN, axonemal central pair apparatus protein xref: ENSEMBL:ENSG00000157423 xref: GENATLAS:HYDIN xref: HGNC:19368 xref: OMIM:610812 xref: UNIPROTKB/SWISSPROT:Q4G0P3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "DKFZp434D0513" xsd:string property_value: alternative:term "Hydrocephalus inducing" xsd:string property_value: alternative:term "Hydrocephalus inducing homolog (mouse)" xsd:string property_value: alternative:term "KIAA1864" xsd:string property_value: alternative:term "PPP1R31" xsd:string property_value: alternative:term "Protein phosphatase 1, regulatory subunit 31" xsd:string property_value: symbol "HYDIN" xsd:string [Term] id: Orphanet:316377 name: calcium binding protein 2 xref: ENSEMBL:ENSG00000167791 xref: GENATLAS:CABP2 xref: HGNC:1385 xref: OMIM:607314 xref: UNIPROTKB/SWISSPROT:Q9NPB3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: symbol "CABP2" xsd:string [Term] id: Orphanet:3164 name: Omphalocele syndrome, Shprintzen-Goldberg type xref: ICD10:Q79.2 xref: OMIM:182210 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:108979 ! Syndromic diaphragmatic or abdominal wall malformation relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Shprintzen–Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities." xsd:string [Term] id: Orphanet:3165 name: Eosinophilic fasciitis xref: ICD10:M35.4 xref: MEDDRA:10014954 xref: OMIM:226350 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182222 ! Rare systemic disease relationship: part_of Orphanet:98482 ! Idiopathic inflammatory myopathy property_value: alternative:term "Diffuse fasciitis with eosinophilia" xsd:string property_value: alternative:term "Shulman syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling mostly of the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed." xsd:string [Term] id: Orphanet:3166 name: Sialuria xref: ICD10:E77.8 xref: MESH:C537332 xref: OMIM:269921 xref: SNOMED CT:34566007 xref: UMLS:C2931471 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:309319 ! Disorder of sialic acid metabolism property_value: alternative:term "Sialuria, French type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood." xsd:string [Term] id: Orphanet:3167 name: Siegler-Brewer-Carey syndrome xref: MESH:C537335 xref: UMLS:C2931473 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101944 ! Rare pulmonary disease relationship: part_of Orphanet:156610 ! Rare genetic respiratory disease [Term] id: Orphanet:3168 name: Sillence syndrome xref: ICD10:Q74.8 xref: MESH:C537338 xref: OMIM:113450 xref: UMLS:C1862092 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "Brachydactyly-symphalangism syndrome" xsd:string [Term] id: Orphanet:3169 name: Sirenomelia xref: ICD10:Q87.2 xref: MEDDRA:10049216 xref: MESH:C538595 xref: OMIM:600145 xref: SNOMED CT:253191000 xref: SNOMED CT:67254002 xref: SNOMED CT:91089008 xref: UMLS:C0037205 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:109009 ! Syndrome with limb malformations as a major feature relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation [Term] id: Orphanet:317 name: Erythrokeratodermia variabilis xref: ICD10:Q82.8 xref: OMIM:133200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:281082 ! Inherited ichthyosis nonsyndromic form relationship: part_of Orphanet:308166 ! Erythrokeratoderma variabilis progressiva property_value: alternative:term "EKV" xsd:string property_value: alternative:term "Erythrokeratodermia variabilis, Mendes da Costa type" xsd:string [Term] id: Orphanet:31709 name: Infantile convulsions and choreoathetosis xref: ICD10:G40.4 xref: OMIM:602066 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:166311 ! Benign partial infantile seizures property_value: alternative:term "ICCA syndrome" xsd:string property_value: alternative:term "Paroxysmal kinesigenic dyskinesia and infantile convulsions" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence." xsd:string [Term] id: Orphanet:3172 name: Eyebrow duplication - syndactyly xref: OMIM:227210 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy [Term] id: Orphanet:3173 name: Infantile spasms - broad thumbs xref: ICD10:G40.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:166463 ! Epileptic syndrome property_value: alternative:term "Tsao-Ellingson syndrome" xsd:string [Term] id: Orphanet:317358 name: host cell factor C1 (VP16-accessory protein) xref: ENSEMBL:ENSG00000172534 xref: GENATLAS:HCFC1 xref: HGNC:4839 xref: OMIM:300019 xref: REACTOME:P51610 xref: UNIPROTKB/SWISSPROT:P51610 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:369962 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Methylmalonic acidemia with homocystinuria, type cblX relationship: Orphanet:317343 Orphanet:777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked non-syndromic intellectual deficit property_value: alternative:term "CFF" xsd:string property_value: alternative:term "HCF-1" xsd:string property_value: alternative:term "HCF1" xsd:string property_value: alternative:term "HFC1" xsd:string property_value: alternative:term "MGC70925" xsd:string property_value: alternative:term "VCAF" xsd:string property_value: symbol "HCFC1" xsd:string [Term] id: Orphanet:317366 name: alpha- and gamma-adaptin binding protein xref: ENSEMBL:ENSG00000103591 xref: GENATLAS:AAGAB xref: HGNC:25662 xref: OMIM:614888 xref: UNIPROTKB/SWISSPROT:Q6PD74 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79501 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Punctate palmoplantar keratoderma type 1 property_value: alternative:term "Alpha- and gamma-adaptin binding protei" xsd:string property_value: alternative:term "FLJ11506" xsd:string property_value: alternative:term "p34" xsd:string property_value: symbol "AAGAB" xsd:string [Term] id: Orphanet:317370 name: peroxisomal biogenesis factor 11 beta xref: ENSEMBL:ENSG00000131779 xref: GENATLAS:PEX11B xref: HGNC:8853 xref: OMIM:603867 xref: UNIPROTKB/SWISSPROT:O96011 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:44 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Neonatal adrenoleukodystrophy relationship: Orphanet:317343 Orphanet:772 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile Refsum disease relationship: Orphanet:317343 Orphanet:912 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zellweger syndrome property_value: alternative:term "Peroxisomal biogenesis factor 11B" xsd:string property_value: symbol "PEX11B" xsd:string [Term] id: Orphanet:317373 name: leucine rich repeat containing 6 xref: ENSEMBL:ENSG00000129295 xref: GENATLAS:LRRC6 xref: HGNC:16725 xref: OMIM:614930 xref: UNIPROTKB/SWISSPROT:Q86X45 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "CILD19" xsd:string property_value: alternative:term "Leucine rich testes protein" xsd:string property_value: alternative:term "LRTP" xsd:string property_value: alternative:term "TSLRP" xsd:string property_value: symbol "LRRC6" xsd:string [Term] id: Orphanet:317382 name: potassium channel, subfamily T, member 1 xref: ENSEMBL:ENSG00000107147 xref: GENATLAS:KCNT1 xref: HGNC:18865 xref: IUPHAR:385 xref: OMIM:608167 xref: UNIPROTKB/SWISSPROT:Q5JUK3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:293181 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Malignant migrating partial seizures of infancy relationship: Orphanet:317343 Orphanet:98784 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nocturnal frontal lobe epilepsy property_value: alternative:term "KCa4.1" xsd:string property_value: alternative:term "KIAA1422" xsd:string property_value: symbol "KCNT1" xsd:string [Term] id: Orphanet:317387 name: calmodulin 1 (phosphorylase kinase, delta) xref: ENSEMBL:ENSG00000198668 xref: GENATLAS:CALM1 xref: HGNC:1442 xref: OMIM:114180 xref: REACTOME:P62158 xref: UNIPROTKB/SWISSPROT:P62158 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3286 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Catecholaminergic polymorphic ventricular tachycardia relationship: Orphanet:317343 Orphanet:768 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial long QT syndrome property_value: alternative:term "CALML2" xsd:string property_value: alternative:term "CAMI" xsd:string property_value: alternative:term "DD132" xsd:string property_value: alternative:term "PHKD" xsd:string property_value: alternative:term "prepro-calmodulin 1" xsd:string property_value: symbol "CALM1" xsd:string [Term] id: Orphanet:317394 name: LIM homeobox 1 xref: ENSEMBL:ENSG00000132130 xref: GENATLAS:LHX1 xref: HGNC:6593 xref: OMIM:601999 xref: UNIPROTKB/SWISSPROT:P48742 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:247775 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Classic Mayer-Rokitansky-Küster-Hauser syndrome relationship: Orphanet:317343 Orphanet:2578 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MURCS association relationship: Orphanet:317349 Orphanet:261265 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 17q12 microdeletion syndrome property_value: alternative:term "LIM-1" xsd:string property_value: alternative:term "LIM1" xsd:string property_value: symbol "LHX1" xsd:string [Term] id: Orphanet:317398 name: tumor necrosis factor (ligand) superfamily, member 15 xref: ENSEMBL:ENSG00000181634 xref: GENATLAS:TNFSF15 xref: HGNC:11931 xref: OMIM:604052 xref: UNIPROTKB/SWISSPROT:O95150 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:186 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary biliary cirrhosis property_value: alternative:term "MGC129934" xsd:string property_value: alternative:term "MGC129935" xsd:string property_value: alternative:term "TL1" xsd:string property_value: alternative:term "TL1A" xsd:string property_value: alternative:term "TNF ligand-related molecule 1" xsd:string property_value: alternative:term "TNF superfamily ligand TL1A" xsd:string property_value: alternative:term "Vascular endothelial cell growth inhibitor" xsd:string property_value: alternative:term "Vascular endothelial growth inhibitor-192A" xsd:string property_value: alternative:term "VEGI" xsd:string property_value: alternative:term "VEGI192A" xsd:string property_value: symbol "TNFSF15" xsd:string [Term] id: Orphanet:31740 name: Hypersensitivity pneumonitis xref: ICD10:J67 xref: MEDDRA:10001890 xref: MESH:D000542 xref: SNOMED CT:37471005 xref: UMLS:C0002390 is_a: Orphanet:264984 ! Exposure-related interstitial lung disease is_a: Orphanet:98052 ! Rare allergic respiratory disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Extrinsic allergic alveolitis" xsd:string property_value: alternative:term "HP" xsd:string [Term] id: Orphanet:317410 name: POU class 2 associating factor 1 xref: ENSEMBL:ENSG00000110777 xref: GENATLAS:POU2AF1 xref: HGNC:9211 xref: OMIM:601206 xref: UNIPROTKB/SWISSPROT:Q16633 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:186 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary biliary cirrhosis property_value: alternative:term "OBF1" xsd:string property_value: alternative:term "POU domain class 2, associating factor 1" xsd:string property_value: symbol "POU2AF1" xsd:string [Term] id: Orphanet:317416 name: T-B+ severe combined immunodeficiency xref: ICD10:D81.2 is_a: Orphanet:183660 ! Severe combined immunodeficiency property_value: alternative:term "T-B+ SCID" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive." xsd:string [Term] id: Orphanet:317419 name: T-B- severe combined immunodeficiency xref: ICD10:D81.1 is_a: Orphanet:183660 ! Severe combined immunodeficiency property_value: alternative:term "T-B- SCID" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "T-B- severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types." xsd:string [Term] id: Orphanet:317425 name: Severe combined immunodeficiency due to DNA-PKcs deficiency xref: ICD10:D81.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:317419 ! T-B- severe combined immunodeficiency property_value: alternative:term "SCID due to DNA-PKcs deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation." xsd:string [Term] id: Orphanet:317428 name: Combined immunodeficiency due to ORAI1 deficiency xref: ICD10:D81.8 xref: OMIM:612782 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:169090 ! Combined immunodeficiency due to CRAC channel dysfunction property_value: alternative:term "CID due to ORAI1 deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis." xsd:string [Term] id: Orphanet:317430 name: Combined immunodeficiency due to STIM1 deficiency xref: ICD10:D81.8 xref: OMIM:612783 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:169090 ! Combined immunodeficiency due to CRAC channel dysfunction property_value: alternative:term "CID due to STIM1 deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia." xsd:string [Term] id: Orphanet:317445 name: protein tyrosine phosphatase, non-receptor type 22 (lymphoid) xref: ENSEMBL:ENSG00000134242 xref: GENATLAS:PTPN22 xref: HGNC:9652 xref: OMIM:600716 xref: UNIPROTKB/SWISSPROT:Q9Y2R2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:397 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Giant cell arteritis relationship: Orphanet:317345 Orphanet:85408 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Juvenile rheumatoid factor-negative polyarthritis relationship: Orphanet:317345 Orphanet:85410 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Oligoarticular juvenile arthritis relationship: Orphanet:317345 Orphanet:900 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Granulomatosis with polyangiitis relationship: Orphanet:317345 Orphanet:93552 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Pediatric systemic lupus erythematosus property_value: alternative:term "Lyp" xsd:string property_value: alternative:term "Lyp1" xsd:string property_value: alternative:term "Lyp2" xsd:string property_value: alternative:term "Protein tyrosine phosphatase, non-receptor type 8" xsd:string property_value: alternative:term "PTPN8" xsd:string property_value: symbol "PTPN22" xsd:string [Term] id: Orphanet:317473 name: Pancytopenia due to IKZF1 mutations xref: ICD10:D81.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency property_value: alternative:term "CID due to ikaros deficiency" xsd:string property_value: alternative:term "Combined immunodeficiency due to ikaros deficiency" xsd:string [Term] id: Orphanet:317476 name: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia xref: ICD10:D81.8 xref: OMIM:300853 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency property_value: alternative:term "CID due to MAGT1 deficiency" xsd:string property_value: alternative:term "Combined immunodeficiency due to MAGT1 deficiency" xsd:string property_value: alternative:term "XMEN" xsd:string [Term] id: Orphanet:3175 name: Spasticity - intellectual deficit - X-linked epilepsy xref: OMIM:308350 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182079 ! ARX-related epileptic encephalopathy relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:317546 name: homeobox C13 xref: ENSEMBL:ENSG00000123364 xref: GENATLAS:HOXC13 xref: HGNC:5125 xref: OMIM:142976 xref: UNIPROTKB/SWISSPROT:P31276 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:69084 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pure hair and nail ectodermal dysplasia property_value: alternative:term "Homeo box C13" xsd:string property_value: alternative:term "HOX3" xsd:string property_value: alternative:term "HOX3G" xsd:string property_value: symbol "HOXC13" xsd:string [Term] id: Orphanet:317554 name: otogelin xref: ENSEMBL:ENSG00000188162 xref: GENATLAS:OTOG xref: HGNC:8516 xref: OMIM:604487 xref: UNIPROTKB/SWISSPROT:Q6ZRI0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "FLJ46346" xsd:string property_value: alternative:term "mlemp" xsd:string property_value: alternative:term "OTGN" xsd:string property_value: symbol "OTOG" xsd:string [Term] id: Orphanet:317560 name: polyribonucleotide nucleotidyltransferase 1 xref: ENSEMBL:ENSG00000138035 xref: GENATLAS:PNPT1 xref: HGNC:23166 xref: OMIM:610316 xref: UNIPROTKB/SWISSPROT:Q8TCS8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319514 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined oxidative phosphorylation defect type 13 relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "3'-5' RNA exonuclease" xsd:string property_value: alternative:term "deafness, autosomal recessive 70" xsd:string property_value: alternative:term "DFNB70" xsd:string property_value: alternative:term "old-35" xsd:string property_value: alternative:term "OLD35" xsd:string property_value: alternative:term "PNPase" xsd:string property_value: alternative:term "Polynucleotide phosphorylase" xsd:string property_value: symbol "PNPT1" xsd:string [Term] id: Orphanet:317567 name: otogelin-like xref: ENSEMBL:ENSG00000165899 xref: GENATLAS:OTOGL xref: HGNC:26901 xref: OMIM:614925 xref: UNIPROTKB/SWISSPROT:Q3ZCN5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "C12orf64" xsd:string property_value: alternative:term "Chromosome 12 open reading frame 64" xsd:string property_value: alternative:term "FLJ90579" xsd:string property_value: symbol "OTOGL" xsd:string [Term] id: Orphanet:317572 name: ribosomal protein L26 xref: ENSEMBL:ENSG00000161970 xref: GENATLAS:RPL26 xref: HGNC:10327 xref: OMIM:603704 xref: REACTOME:P61254 xref: UNIPROTKB/SWISSPROT:P61254 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:124 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Blackfan-Diamond anemia property_value: alternative:term "L26" xsd:string property_value: symbol "RPL26" xsd:string [Term] id: Orphanet:3176 name: Spina bifida - hypospadias xref: ICD10:Q05.9 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature [Term] id: Orphanet:317635 name: transmembrane protein 5 xref: ENSEMBL:ENSG00000118600 xref: GENATLAS:TMEM5 xref: HGNC:13530 xref: OMIM:605862 xref: UNIPROTKB/SWISSPROT:Q9Y2B1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Walker-Warburg syndrome property_value: alternative:term "HP10481" xsd:string property_value: symbol "TMEM5" xsd:string [Term] id: Orphanet:317667 name: methionyl-tRNA synthetase 2, mitochondrial xref: ENSEMBL:ENSG00000247626 xref: GENATLAS:MARS2 xref: HGNC:25133 xref: OMIM:609728 xref: REACTOME:Q96GW9 xref: UNIPROTKB/SWISSPROT:Q96GW9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314603 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic ataxia with leukoencephalopathy property_value: alternative:term "Methionine tRNA ligase 2, mitochondrial" xsd:string property_value: alternative:term "mtMetRS" xsd:string property_value: symbol "MARS2" xsd:string [Term] id: Orphanet:317674 name: colony stimulating factor 1 receptor xref: ENSEMBL:ENSG00000182578 xref: GENATLAS:CSF1R xref: HGNC:2433 xref: IUPHAR:1806 xref: OMIM:164770 xref: UNIPROTKB/SWISSPROT:P07333 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:313808 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia property_value: alternative:term "C-FMS" xsd:string property_value: alternative:term "CD115" xsd:string property_value: alternative:term "CSFR" xsd:string property_value: alternative:term "FMS" xsd:string property_value: alternative:term "McDonough feline sarcoma viral (v-fms) oncogene homolog" xsd:string property_value: symbol "CSF1R" xsd:string [Term] id: Orphanet:317684 name: CTS telomere maintenance complex component 1 xref: ENSEMBL:ENSG00000178971 xref: GENATLAS:CTC1 xref: HGNC:26169 xref: OMIM:613129 xref: UNIPROTKB/SWISSPROT:Q2NKJ3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1775 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dyskeratosis congenita relationship: Orphanet:317343 Orphanet:313838 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Coats plus syndrome property_value: alternative:term "AAF132" xsd:string property_value: alternative:term "alpha accessory factor 132" xsd:string property_value: alternative:term "C17orf68" xsd:string property_value: alternative:term "Chromosome 17 open reading frame 68" xsd:string property_value: alternative:term "Conserved telomere capping protein 1" xsd:string property_value: alternative:term "Conserved telomere maintenance component 1" xsd:string property_value: alternative:term "FLJ22170" xsd:string property_value: alternative:term "tmp494178" xsd:string property_value: symbol "CTC1" xsd:string [Term] id: Orphanet:317699 name: aconitase 2, mitochondrial xref: ENSEMBL:ENSG00000100412 xref: GENATLAS:ACO2 xref: HGNC:118 xref: OMIM:100850 xref: REACTOME:Q99798 xref: UNIPROTKB/SWISSPROT:Q99798 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:313850 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile cerebellar-retinal degeneration property_value: alternative:term "aconitate hydratase, mitochondrial" xsd:string property_value: alternative:term "ACONM" xsd:string property_value: symbol "ACO2" xsd:string [Term] id: Orphanet:3177 name: Corneal-cerebellar syndrome xref: MESH:C535472 xref: OMIM:271310 xref: UMLS:C1849087 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183518 ! Rare hereditary ataxia relationship: part_of Orphanet:98628 ! Syndromic corneal dystrophy property_value: alternative:term "Der Kaloustian-Jarudi-Khoury syndrome" xsd:string property_value: alternative:term "Spinocerebellar degeneration - corneal dystrophy" xsd:string [Term] id: Orphanet:317704 name: SRY (sex determining region Y)-box 5 xref: ENSEMBL:ENSG00000134532 xref: GENATLAS:SOX5 xref: HGNC:11201 xref: OMIM:604975 xref: UNIPROTKB/SWISSPROT:P35711 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:313892 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Developmental and speech delay due to SOX5 deficiency relationship: Orphanet:317349 Orphanet:313884 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 12p12.1 microdeletion syndrome property_value: alternative:term "L-SOX5" xsd:string property_value: alternative:term "MGC35153" xsd:string property_value: symbol "SOX5" xsd:string [Term] id: Orphanet:317719 name: glutamyl-tRNA synthetase 2, mitochondrial xref: ENSEMBL:ENSG00000103356 xref: GENATLAS:EARS2 xref: HGNC:29419 xref: OMIM:612799 xref: REACTOME:Q5JPH6 xref: UNIPROTKB/SWISSPROT:Q5JPH6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314051 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Leukoencephalopathy - thalamus and brainstem anomalies - high lactate property_value: alternative:term "Glutamate tRNA ligase 2, mitochondrial" xsd:string property_value: alternative:term "Glutamyl-tRNA synthetase 2, mitochondrial (putative)" xsd:string property_value: alternative:term "KIAA1970" xsd:string property_value: alternative:term "MSE1" xsd:string property_value: symbol "EARS2" xsd:string [Term] id: Orphanet:317726 name: guanylate cyclase 2C (heat stable enterotoxin receptor) xref: ENSEMBL:ENSG00000070019 xref: GENATLAS:GUCY2C xref: HGNC:4688 xref: IUPHAR:1750 xref: OMIM:601330 xref: UNIPROTKB/SWISSPROT:P25092 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314373 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chronic diarrhea due to guanylate cyclase 2C overactivity relationship: Orphanet:317343 Orphanet:314376 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency property_value: alternative:term "GUC2C" xsd:string property_value: alternative:term "STAR" xsd:string property_value: symbol "GUCY2C" xsd:string [Term] id: Orphanet:317739 name: signal recognition particle 72kDa xref: ENSEMBL:ENSG00000174780 xref: GENATLAS:SRP72 xref: HGNC:11303 xref: OMIM:602122 xref: REACTOME:O76094 xref: UNIPROTKB/SWISSPROT:O76094 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314399 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant aplasia and myelodysplasia property_value: alternative:term "Signal recognition particle 72kD" xsd:string property_value: symbol "SRP72" xsd:string [Term] id: Orphanet:317743 name: DnaJ (Hsp40) homolog, subfamily B, member 2 xref: ENSEMBL:ENSG00000135924 xref: GENATLAS:DNAJB2 xref: HGNC:5228 xref: OMIM:604139 xref: UNIPROTKB/SWISSPROT:P25686 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314485 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Young adult-onset distal hereditary motor neuropathy property_value: alternative:term "HSJ1" xsd:string property_value: alternative:term "HSPF3" xsd:string property_value: symbol "DNAJB2" xsd:string [Term] id: Orphanet:317747 name: iroquois homeobox 5 xref: ENSEMBL:ENSG00000176842 xref: GENATLAS:IRX5 xref: HGNC:14361 xref: OMIM:606195 xref: UNIPROTKB/SWISSPROT:P78411 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314555 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Craniofacial dysplasia-osteopenia syndrome property_value: alternative:term "IRX-2a" xsd:string property_value: symbol "IRX5" xsd:string [Term] id: Orphanet:317756 name: mitochondrial tRNA translation optimization 1 xref: ENSEMBL:ENSG00000135297 xref: GENATLAS:MTO1 xref: HGNC:19261 xref: OMIM:614667 xref: UNIPROTKB/SWISSPROT:Q9Y2Z2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314637 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency property_value: alternative:term "Mitochondrial translation optimization 1 homolog (S. cerevisiae)" xsd:string property_value: symbol "MTO1" xsd:string [Term] id: Orphanet:317761 name: calmodulin binding transcription activator 1 xref: ENSEMBL:ENSG00000171735 xref: GENATLAS:CAMTA1 xref: HGNC:18806 xref: OMIM:611501 xref: UNIPROTKB/SWISSPROT:Q9Y6Y1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314647 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Non-progressive cerebellar ataxia with intellectual deficit property_value: alternative:term "KIAA0833" xsd:string property_value: symbol "CAMTA1" xsd:string [Term] id: Orphanet:317771 name: beta-2-microglobulin xref: ENSEMBL:ENSG00000166710 xref: GENATLAS:B2M xref: HGNC:914 xref: OMIM:109700 xref: REACTOME:P61769 xref: UNIPROTKB/SWISSPROT:P61769 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314652 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant beta2-microglobulinic amyloidosis property_value: symbol "B2M" xsd:string [Term] id: Orphanet:317781 name: transmembrane protein 165 xref: ENSEMBL:ENSG00000134851 xref: GENATLAS:TMEM165 xref: HGNC:30760 xref: OMIM:614726 xref: UNIPROTKB/SWISSPROT:Q9HC07 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314667 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! TMEM165-CDG property_value: alternative:term "GDT1" xsd:string property_value: alternative:term "TMPT27" xsd:string property_value: alternative:term "TPA regulated locus" xsd:string property_value: alternative:term "TPARL" xsd:string property_value: symbol "TMEM165" xsd:string [Term] id: Orphanet:317798 name: serine/threonine kinase 4 xref: ENSEMBL:ENSG00000101109 xref: GENATLAS:STK4 xref: HGNC:11408 xref: IUPHAR:2225 xref: OMIM:604965 xref: REACTOME:Q13043 xref: UNIPROTKB/SWISSPROT:Q13043 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314689 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined immunodeficiency due to STK4 deficiency property_value: alternative:term "Kinase responsive to stress 2" xsd:string property_value: alternative:term "KRS2" xsd:string property_value: alternative:term "Mammalian sterile 20-like 1" xsd:string property_value: alternative:term "MST1" xsd:string property_value: alternative:term "Yeast Ste20-like" xsd:string property_value: alternative:term "YSK3" xsd:string property_value: symbol "STK4" xsd:string [Term] id: Orphanet:317857 name: cAMP responsive element binding protein 3-like 3 xref: ENSEMBL:ENSG00000060566 xref: GENATLAS:CREB3L3 xref: HGNC:18855 xref: OMIM:611998 xref: UNIPROTKB/SWISSPROT:Q68CJ9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:70470 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperlipoproteinemia type 5 property_value: alternative:term "CREB-H" xsd:string property_value: symbol "CREB3L3" xsd:string [Term] id: Orphanet:318 name: Acute erythroid leukemia xref: ICD10:C94.0 xref: OMIM:133180 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:167714 ! Unclassified acute myeloid leukemia property_value: alternative:term "Acute myeloblastic leukemia type 6" xsd:string property_value: alternative:term "AML-M6" xsd:string property_value: alternative:term "Erythroleukemia" xsd:string [Term] id: Orphanet:3180 name: Spondylocamptodactyly syndrome xref: ICD10:Q77.8 xref: MESH:C535779 xref: OMIM:600000 xref: UMLS:C1838781 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93434 ! Spondylodysplastic dysplasia [Term] id: Orphanet:3181 name: Sprengel deformity xref: ICD10:Q74.0 xref: MEDDRA:10010455 xref: MESH:C535802 xref: OMIM:184400 xref: SNOMED CT:79120002 xref: UMLS:C0152438 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:182108 ! Thoracic malformation property_value: alternative:term "High scapula" xsd:string [Term] id: Orphanet:31824 name: Colchicine poisoning xref: ICD10:T50.4 is_a: Orphanet:377793 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! particular clinical situation in a disease or syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:306640 ! Rare intoxication due to medical products [Term] id: Orphanet:31825 name: Methanol poisoning xref: ICD10:T51.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108999 ! Rare intoxication [Term] id: Orphanet:31826 name: Ethylene glycol poisoning xref: ICD10:T52.8 xref: SNOMED CT:426692001 xref: UMLS:C0413194 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108999 ! Rare intoxication [Term] id: Orphanet:31827 name: Paraquat poisoning xref: ICD10:T60.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108999 ! Rare intoxication [Term] id: Orphanet:31828 name: Digitalis poisoning xref: ICD10:T46.0 is_a: Orphanet:377793 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! particular clinical situation in a disease or syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:306640 ! Rare intoxication due to medical products [Term] id: Orphanet:31837 name: Pulmonary venoocclusive disease xref: MEDDRA:10037458 xref: MESH:D011668 xref: OMIM:265450 xref: SNOMED CT:89420002 xref: UMLS:C0034091 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:156610 ! Rare genetic respiratory disease relationship: part_of Orphanet:182090 ! Pulmonary arterial hypertension property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pulmonary veno-occlusive disease (PVOD) constitutes a rare subgroup of pulmonary arterial hypertension (PAH; see this term) characterized by obliterative fibrosis of the small pulmonary veins and venules, leading to increased pulmonary vascular resistance and right ventricular dysfunction." xsd:string [Term] id: Orphanet:3184 name: Steatocystoma multiplex - natal teeth xref: MESH:C537487 xref: OMIM:184510 xref: UMLS:C1866650 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183460 ! Genetic sebaceus gland anomaly relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:79372 ! Sebaceous gland anomaly [Term] id: Orphanet:3186 name: Holoprosencephaly - radial heart renal anomalies xref: ICD10:Q87.8 xref: OMIM:184705 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Steinfeld syndrome" xsd:string [Term] id: Orphanet:318745 name: IKAROS family zinc finger 1 (Ikaros) xref: ENSEMBL:ENSG00000185811 xref: GENATLAS:IKZF1 xref: HGNC:13176 xref: OMIM:603023 xref: UNIPROTKB/SWISSPROT:Q13422 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:317473 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pancytopenia due to IKZF1 mutations relationship: Orphanet:317347 Orphanet:99860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor B-cell acute lymphoblastic leukemia property_value: alternative:term "hIk-1" xsd:string property_value: alternative:term "Hs.54452" xsd:string property_value: alternative:term "IKAROS" xsd:string property_value: alternative:term "LyF-1" xsd:string property_value: alternative:term "Zinc finger protein, subfamily 1A, 1 (Ikaros)" xsd:string property_value: alternative:term "ZNFN1A1" xsd:string property_value: symbol "IKZF1" xsd:string [Term] id: Orphanet:318754 name: protein kinase, DNA-activated, catalytic polypeptide xref: ENSEMBL:ENSG00000253729 xref: GENATLAS:PRKDC xref: HGNC:9413 xref: OMIM:600899 xref: REACTOME:P78527 xref: UNIPROTKB/SWISSPROT:P78527 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:317425 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe combined immunodeficiency due to DNA-PKcs deficiency property_value: alternative:term "DNA-PKcs" xsd:string property_value: alternative:term "DNAPK" xsd:string property_value: alternative:term "DNPK1" xsd:string property_value: alternative:term "HYRC" xsd:string property_value: alternative:term "HYRC1" xsd:string property_value: alternative:term "p350" xsd:string property_value: alternative:term "XRCC7" xsd:string property_value: symbol "PRKDC" xsd:string [Term] id: Orphanet:3188 name: Congenital pulmonary veins atresia or stenosis xref: ICD10:Q26.8 xref: SNOMED CT:11614003 xref: SNOMED CT:204467000 xref: UMLS:C0265915 xref: UMLS:C0344679 is_a: Orphanet:98724 ! Congenital great vessels anomaly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:318839 name: multiple EGF-like-domains 8 xref: ENSEMBL:ENSG00000105429 xref: GENATLAS:MEGF8 xref: HGNC:3233 xref: OMIM:604267 xref: UNIPROTKB/SWISSPROT:Q7Z7M0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:65759 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Carpenter syndrome property_value: alternative:term "C19orf49" xsd:string property_value: alternative:term "Chromosome 19 open reading frame 49" xsd:string property_value: alternative:term "EGF-like-domain, multiple 4" xsd:string property_value: alternative:term "EGFL4" xsd:string property_value: alternative:term "FLJ22365" xsd:string property_value: alternative:term "HBV pre s2 binding protein 1" xsd:string property_value: alternative:term "SBP1" xsd:string property_value: symbol "MEGF8" xsd:string [Term] id: Orphanet:318853 name: ATR interacting protein xref: ENSEMBL:ENSG00000164053 xref: GENATLAS:ATRIP xref: HGNC:33499 xref: OMIM:606605 xref: REACTOME:Q8WXE1 xref: UNIPROTKB/SWISSPROT:Q8WXE1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:808 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Seckel syndrome property_value: alternative:term "FLJ12343" xsd:string property_value: alternative:term "MGC20625" xsd:string property_value: alternative:term "MGC21482" xsd:string property_value: alternative:term "MGC26740" xsd:string property_value: symbol "ATRIP" xsd:string [Term] id: Orphanet:318860 name: GATA zinc finger domain containing 2B xref: ENSEMBL:ENSG00000143614 xref: GENATLAS:GATAD2B xref: HGNC:30778 xref: OMIM:614998 xref: UNIPROTKB/SWISSPROT:Q8WXI9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363686 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome property_value: alternative:term "P66beta" xsd:string property_value: alternative:term "Transcription repressor p66 beta component of the MeCP1 complex" xsd:string property_value: symbol "GATAD2B" xsd:string [Term] id: Orphanet:318865 name: TANK-binding kinase 1 xref: ENSEMBL:ENSG00000183735 xref: GENATLAS:TBK1 xref: HGNC:11584 xref: IUPHAR:2237 xref: OMIM:604834 xref: REACTOME:Q9UHD2 xref: UNIPROTKB/SWISSPROT:Q9UHD2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:1930 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Herpetic encephalitis property_value: alternative:term "NAK" xsd:string property_value: symbol "TBK1" xsd:string [Term] id: Orphanet:3189 name: Congenital pulmonary valve stenosis xref: ICD10:Q22.1 xref: MEDDRA:10037451 xref: MESH:D011666 xref: OMIM:265500 xref: SNOMED CT:67278007 xref: UMLS:C0162164 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:98719 ! Pulmonary artery or pulmonary branch anomaly [Term] id: Orphanet:319 name: Ewing sarcoma xref: ICD10:C40 xref: ICD10:C41 xref: MEDDRA:10015560 xref: OMIM:612219 xref: SNOMED CT:76909002 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:223727 ! Bone sarcoma [Term] id: Orphanet:3190 name: Subpulmonary stenosis xref: ICD10:Q24.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3189 ! Congenital pulmonary valve stenosis [Term] id: Orphanet:319033 name: rotatin xref: ENSEMBL:ENSG00000176225 xref: GENATLAS:RTTN xref: HGNC:18654 xref: OMIM:610436 xref: UNIPROTKB/SWISSPROT:Q86VV8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:208447 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Bilateral generalized polymicrogyria property_value: alternative:term "DKFZP434G145" xsd:string property_value: symbol "RTTN" xsd:string [Term] id: Orphanet:319038 name: keratin 71 xref: ENSEMBL:ENSG00000139648 xref: GENATLAS:KRT71 xref: HGNC:28927 xref: OMIM:608245 xref: UNIPROTKB/SWISSPROT:Q3SY84 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:170 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Woolly hair property_value: alternative:term "K6IRS1" xsd:string property_value: alternative:term "KRT6IRS" xsd:string property_value: alternative:term "KRT6IRS1" xsd:string property_value: symbol "KRT71" xsd:string [Term] id: Orphanet:3191 name: Subaortic stenosis - short stature xref: OMIM:271960 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98628 ! Syndromic corneal dystrophy property_value: alternative:term "Onat syndrome" xsd:string [Term] id: Orphanet:319160 name: Congenital myopathy with internal nuclei and atypical cores xref: ICD10:G71.2 xref: OMIM:614807 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:172976 ! Congenital myopathy with cores property_value: alternative:term "Centronuclear myopathy type 4" xsd:string property_value: alternative:term "CNM4" xsd:string [Term] id: Orphanet:319171 name: Distal 17p13.1 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:261965 ! Partial monosomy of the short arm of chromosome 17 property_value: alternative:term "Distal del(17)(p13.1)" xsd:string [Term] id: Orphanet:319182 name: Wiedemann-Steiner syndrome xref: ICD10:Q87.1 xref: OMIM:605130 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome" xsd:string [Term] id: Orphanet:319189 name: Familial cortical myoclonus xref: ICD10:G25.3 xref: OMIM:614937 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:306750 ! Primary myoclonus [Term] id: Orphanet:319192 name: Diencephalic-mesencephalic junction dysplasia xref: ICD10:Q04.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:199633 ! Cerebral malformation relationship: part_of Orphanet:269553 ! Genetic cerebral malformation [Term] id: Orphanet:319195 name: Chondroectodermal dysplasia with night blindness xref: ICD10:Q77.6 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101435 ! Rare genetic eye disease relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:93446 ! Primary bone dysplasia with decreased bone density [Term] id: Orphanet:319199 name: Autosomal recessive spastic paraplegia type 53 xref: ICD10:G11.4 xref: OMIM:614898 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100981 ! Autosomal recessive complex spastic paraplegia property_value: alternative:term "SPG53" xsd:string [Term] id: Orphanet:3192 name: Supravalvular pulmonary stenosis xref: ICD10:Q22.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3189 ! Congenital pulmonary valve stenosis [Term] id: Orphanet:319205 name: Bilateral massive adrenal hemorrhage xref: ICD10:E27.4 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:95409 ! Acute adrenal insufficiency property_value: alternative:term "Bilateral adrenal hemorrhage" xsd:string property_value: alternative:term "BMAH" xsd:string [Term] id: Orphanet:319213 name: Lujo hemorrhagic fever xref: ICD10:A96.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:341 ! Viral hemorrhagic fever property_value: alternative:term "Zambian hemorrhagic fever" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission." xsd:string [Term] id: Orphanet:319218 name: Ebola hemorrhagic fever xref: ICD10:A98.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:341 ! Viral hemorrhagic fever property_value: alternative:term "Ebola fever" xsd:string property_value: alternative:term "Ebola virus disease" xsd:string property_value: alternative:term "EHF" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Ebola hemorrhagic fever (EHF), caused by Ebola virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure." xsd:string [Term] id: Orphanet:319223 name: Argentine hemorrhagic fever xref: ICD10:A96.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:341 ! Viral hemorrhagic fever property_value: alternative:term "Argentinian hemorrhagic fever" xsd:string property_value: alternative:term "Junin hemorrhagic fever" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations." xsd:string [Term] id: Orphanet:319229 name: Bolivian hemorrhagic fever xref: ICD10:A96.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:341 ! Viral hemorrhagic fever property_value: alternative:term "Machupo hemorrhagic fever" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Bolivian hemorrhagic fever (BHF), caused by the Machupo virus (MACV), is a severe acute viral hemorrhagic fever characterized by fever, myalgia, and arthralgia followed by hemorrhagic and neurological manifestations." xsd:string [Term] id: Orphanet:319234 name: Venezuelan hemorrhagic fever xref: ICD10:A96.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:341 ! Viral hemorrhagic fever property_value: alternative:term "Guanarito hemorrhagic fever" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations." xsd:string [Term] id: Orphanet:319239 name: Brazilian hemorrhagic fever xref: ICD10:A96.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:341 ! Viral hemorrhagic fever property_value: alternative:term "Sabia hemorrhagic fever" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death." xsd:string [Term] id: Orphanet:319244 name: Chapare hemorrhagic fever xref: ICD10:A96.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:341 ! Viral hemorrhagic fever property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since." xsd:string [Term] id: Orphanet:319247 name: Hantavirus pulmonary syndrome xref: ICD10:B33.4+ xref: ICD10:J17.1* is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:341 ! Viral hemorrhagic fever [Term] id: Orphanet:319251 name: Rift valley fever xref: ICD10:A92.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:341 ! Viral hemorrhagic fever property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms." xsd:string [Term] id: Orphanet:319254 name: Kyasanur forest disease xref: ICD10:A98.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:341 ! Viral hemorrhagic fever property_value: alternative:term "Kyasanur hemorrhagic fever" xsd:string property_value: alternative:term "Monkey disease" xsd:string property_value: alternative:term "Monkey fever" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations." xsd:string [Term] id: Orphanet:319266 name: Omsk hemorrhagic fever xref: ICD10:A98.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:341 ! Viral hemorrhagic fever property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis." xsd:string [Term] id: Orphanet:319276 name: Clear cell renal carcinoma xref: ICD10:C64 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:217071 ! Non-familial renal cell carcinoma property_value: alternative:term "CCRCC" xsd:string property_value: alternative:term "Clear cell adenocarcinoma" xsd:string property_value: alternative:term "Clear cell renal cell adenocarcinoma" xsd:string property_value: alternative:term "Clear cell renal cell carcinoma" xsd:string [Term] id: Orphanet:319287 name: Multilocular cystic renal cell carcinoma xref: ICD10:C64 is_a: Orphanet:319276 ! Clear cell renal carcinoma property_value: alternative:term "Multilocular clear cell adenocarcinoma" xsd:string property_value: alternative:term "Multilocular clear cell carcinoma" xsd:string property_value: alternative:term "Multilocular clear cell renal cell adenocarcinoma" xsd:string property_value: alternative:term "Multilocular clear cell renal cell carcinoma" xsd:string property_value: alternative:term "Multilocular cystic renal cell adenocarcinoma" xsd:string [Term] id: Orphanet:319298 name: Papillary renal cell carcinoma xref: ICD10:C64 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:217071 ! Non-familial renal cell carcinoma property_value: alternative:term "Papillary renal cell adenocarcinoma" xsd:string [Term] id: Orphanet:3193 name: Supravalvular aortic stenosis xref: ICD10:Q25.3 xref: MEDDRA:10042598 xref: MESH:D021921 xref: OMIM:185500 xref: SNOMED CT:268185002 xref: SNOMED CT:7169009 xref: UMLS:C0003499 xref: UMLS:C1305147 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:271853 ! Genetic cardiac anomaly relationship: part_of Orphanet:98718 ! Aortic malformation property_value: alternative:term "Supravalvar aortic stenosis" xsd:string property_value: alternative:term "SVAS" xsd:string [Term] id: Orphanet:319303 name: Chromophobe renal cell carcinoma xref: ICD10:C64 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:217071 ! Non-familial renal cell carcinoma property_value: alternative:term "Chromophobe renal cell adenocarcinoma" xsd:string [Term] id: Orphanet:319308 name: Translocation renal cell carcinoma xref: ICD10:C64 xref: OMIM:300854 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:217071 ! Non-familial renal cell carcinoma property_value: alternative:term "Carcinoma associated with MITF/TFE translocation" xsd:string property_value: alternative:term "Translocation carcinoma" xsd:string [Term] id: Orphanet:319314 name: Renal cell carcinoma associated with neuroblastoma xref: ICD10:C64 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:217071 ! Non-familial renal cell carcinoma property_value: alternative:term "Renal cell carcinoma after neuroblastoma" xsd:string [Term] id: Orphanet:319319 name: Renal medullary carcinoma xref: ICD10:C64 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:217071 ! Non-familial renal cell carcinoma [Term] id: Orphanet:319322 name: Mucinous tubular and spindle cell carcinoma xref: ICD10:C64 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:217071 ! Non-familial renal cell carcinoma [Term] id: Orphanet:319325 name: Tubulocystic carcinoma xref: ICD10:C64 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:217071 ! Non-familial renal cell carcinoma [Term] id: Orphanet:319328 name: Inherited renal cell cancer-predisposing syndrome is_a: Orphanet:140162 ! Inherited cancer-predisposing syndrome is_a: Orphanet:93626 ! Rare renal disease [Term] id: Orphanet:319332 name: Autosomal recessive myogenic arthrogryposis multiplex congenita xref: ICD10:Q74.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:1037 ! Arthrogryposis multiplex congenita relationship: part_of Orphanet:97242 ! Congenital muscular dystrophy property_value: alternative:term "Autosomal recessive myogenic AMC" xsd:string property_value: alternative:term "SYNE1-related AMC" xsd:string property_value: alternative:term "SYNE1-related arthrogryposis multiplex congenita" xsd:string [Term] id: Orphanet:319340 name: Carney complex-trismus-pseudocamptodactyly syndrome xref: ICD10:Q68.8 xref: OMIM:608837 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:168194 ! Rare cardiac tumor relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:228184 ! Heart-hand syndrome relationship: part_of Orphanet:271841 ! Genetic cardiac tumor relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin property_value: alternative:term "Carney complex variant" xsd:string [Term] id: Orphanet:3194 name: Stern-Lubinsky-Durrie syndrome xref: MESH:C536444 xref: MESH:C537488 xref: OMIM:122440 xref: UMLS:C1852542 xref: UMLS:C2931506 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:98628 ! Syndromic corneal dystrophy property_value: alternative:term "Corneo-dermato-osseous syndrome" xsd:string [Term] id: Orphanet:319462 name: Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations xref: OMIM:605724 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:319328 ! Inherited renal cell cancer-predisposing syndrome [Term] id: Orphanet:319465 name: Inherited acute myeloid leukemia xref: ICD10:C92.7 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:322126 ! Genetic tumor of hematopoietic and lymphoid tissues relationship: part_of Orphanet:519 ! Acute myeloid leukemia property_value: alternative:term "Familial AML" xsd:string property_value: alternative:term "Inherited AML" xsd:string property_value: alternative:term "Pure familial acute myeloid leukemia" xsd:string property_value: alternative:term "Pure familial AML" xsd:string [Term] id: Orphanet:319480 name: Acute myeloid leukemia with CEBPA somatic mutations xref: ICD10:C92.7 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:322126 ! Genetic tumor of hematopoietic and lymphoid tissues relationship: part_of Orphanet:98277 ! Acute myeloid leukemia with recurrent genetic anomaly property_value: alternative:term "AML with CEBPA somatic mutations" xsd:string [Term] id: Orphanet:319487 name: Familial papillary or follicular thyroid carcinoma xref: ICD10:C73 xref: OMIM:603386 xref: OMIM:603744 xref: OMIM:606240 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:319494 ! Familial nonmedullary thyroid carcinoma property_value: alternative:term "Familial pure nonmedullary thyroid carcinoma" xsd:string property_value: alternative:term "FNMTC" xsd:string [Term] id: Orphanet:319494 name: Familial nonmedullary thyroid carcinoma xref: ICD10:C73 is_a: Orphanet:100088 ! Thyroid carcinoma is_a: Orphanet:271847 ! Genetic endocrine tumor [Term] id: Orphanet:3195 name: Sternal malformation - vascular dysplasia is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:68419 ! Vascular anomaly or angioma [Term] id: Orphanet:319504 name: Combined oxidative phosphorylation defect type 8 xref: ICD10:I42.2 xref: OMIM:614096 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: alternative:term "COXPD8" xsd:string [Term] id: Orphanet:319509 name: Combined oxidative phosphorylation defect type 9 xref: ICD10:I42.2 xref: OMIM:614582 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: alternative:term "COXPD9" xsd:string [Term] id: Orphanet:319514 name: Combined oxidative phosphorylation defect type 13 xref: ICD10:G71.3 xref: OMIM:614932 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: alternative:term "COXPD13" xsd:string [Term] id: Orphanet:319519 name: Combined oxidative phosphorylation defect type 14 xref: ICD10:E88.8 xref: OMIM:614946 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: alternative:term "COXPD14" xsd:string [Term] id: Orphanet:319524 name: Combined oxidative phosphorylation defect type 15 xref: ICD10:G31.8 xref: OMIM:614947 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: alternative:term "COXPD15" xsd:string [Term] id: Orphanet:319535 name: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency xref: ICD10:D84.8 is_a: Orphanet:748 ! Mendelian susceptibility to mycobacterial diseases property_value: alternative:term "Autosomal recessive MSMD due to a complete deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD (see this term) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency (see these terms)." xsd:string [Term] id: Orphanet:319539 name: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency xref: ICD10:D84.8 is_a: Orphanet:748 ! Mendelian susceptibility to mycobacterial diseases property_value: alternative:term "Autosomal recessive MSMD due to a partial deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " genes which lead to a residual response of IFN-gamma." xsd:string [Term] id: Orphanet:319543 name: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency xref: ICD10:D84.8 is_a: Orphanet:748 ! Mendelian susceptibility to mycobacterial diseases property_value: alternative:term "Autosomal dominant MSMD due to a partial deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD (see this term) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8) (see these terms)." xsd:string [Term] id: Orphanet:319547 name: Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency xref: ICD10:D84.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:319535 ! Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency property_value: alternative:term "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency" xsd:string property_value: alternative:term "MSMD due to complete IFNgammaR2 deficiency" xsd:string property_value: alternative:term "MSMD due to complete interferon gamma receptor 2 deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM)." xsd:string [Term] id: Orphanet:319552 name: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency xref: ICD10:D84.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:319535 ! Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency property_value: alternative:term "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency" xsd:string property_value: alternative:term "MSMD due to complete IL12RB1 deficiency" xsd:string property_value: alternative:term "MSMD due to complete interleukin 12 receptor beta 1 deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " infections." xsd:string [Term] id: Orphanet:319558 name: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency xref: ICD10:D84.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:319535 ! Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency property_value: alternative:term "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency" xsd:string property_value: alternative:term "MSMD due to complete IL12B deficiency" xsd:string property_value: alternative:term "MSMD due to complete interleukin 12B deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " infections." xsd:string [Term] id: Orphanet:319563 name: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency xref: ICD10:D84.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:319535 ! Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency property_value: alternative:term "MSMD due to complete ISG15 deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Guérin (BCG) infections." xsd:string [Term] id: Orphanet:319569 name: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency xref: ICD10:D84.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:319539 ! Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency property_value: alternative:term "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" xsd:string property_value: alternative:term "Autosomal recessive MSMD due to partial IFNgammaR1 deficiency" xsd:string property_value: alternative:term "Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFN-gammaR1 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM)." xsd:string [Term] id: Orphanet:319574 name: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency xref: ICD10:D84.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:319539 ! Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency property_value: alternative:term "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency" xsd:string property_value: alternative:term "Autosomal recessive MSMD due to partial IFNgammaR2 deficiency" xsd:string property_value: alternative:term "Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM)." xsd:string [Term] id: Orphanet:319581 name: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency xref: ICD10:D84.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:319543 ! Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency property_value: alternative:term "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" xsd:string property_value: alternative:term "Autosomal dominant MSMD due to partial IFNgammaR1 deficiency" xsd:string property_value: alternative:term "Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM)." xsd:string [Term] id: Orphanet:319589 name: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency xref: ICD10:D84.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:319543 ! Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency property_value: alternative:term "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency" xsd:string property_value: alternative:term "Autosomal dominant MSMD due to partial IFNgammaR2 deficiency" xsd:string property_value: alternative:term "Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to partial interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD (see this term) characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM)." xsd:string [Term] id: Orphanet:319595 name: Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency xref: ICD10:D84.8 xref: OMIM:613796 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:319543 ! Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency property_value: alternative:term "Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency" xsd:string property_value: alternative:term "MSMD due to partial signal transducer and activator of transcription 1 deficiency" xsd:string property_value: alternative:term "MSMD due to partial STAT1 deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections." xsd:string [Term] id: Orphanet:3196 name: Steroid dehydrogenase deficiency - dental anomalies is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component property_value: alternative:term "Lyngstadaas syndrome" xsd:string [Term] id: Orphanet:319600 name: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency xref: ICD10:D84.8 xref: OMIM:614893 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:319543 ! Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency property_value: alternative:term "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency" xsd:string property_value: alternative:term "MSMD due to partial interferon regulatory factor 8 deficiency" xsd:string property_value: alternative:term "MSMD due to partial IRF8 deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG).." xsd:string [Term] id: Orphanet:319605 name: X-linked mendelian susceptibility to mycobacterial diseases xref: ICD10:D84.8 xref: OMIM:300636 xref: OMIM:300645 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:748 ! Mendelian susceptibility to mycobacterial diseases property_value: alternative:term "X-linked MSMD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition ") genes. They are characterized by mycobacterial infections, occuring in males." xsd:string [Term] id: Orphanet:319612 name: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency xref: ICD10:D84.8 xref: OMIM:300636 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:319605 ! X-linked mendelian susceptibility to mycobacterial diseases property_value: alternative:term "X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency" xsd:string property_value: alternative:term "X-linked MSMD due to IKBKG deficiency" xsd:string property_value: alternative:term "X-linked MSMD due to NEMO deficiency" xsd:string [Term] id: Orphanet:319623 name: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency xref: ICD10:D84.8 xref: OMIM:300645 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:319605 ! X-linked mendelian susceptibility to mycobacterial diseases property_value: alternative:term "X-linked MSMD due to CYBB deficiency" xsd:string [Term] id: Orphanet:319635 name: Amyloidosis cutis dyschromia xref: ICD10:E85.4+ xref: ICD10:L99.0* is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:137807 ! Primary cutaneous amyloidosis property_value: alternative:term "Amyloidosis cutis dyschromica" xsd:string [Term] id: Orphanet:319640 name: Retinal macular dystrophy type 2 xref: ICD10:H35.5 xref: OMIM:608051 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98664 ! Genetic macular dystrophy property_value: alternative:term "MCDR2" xsd:string [Term] id: Orphanet:319646 name: PGM-CDG xref: ICD10:E77.8 xref: OMIM:614921 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371157 ! Congenital disorder of glycosylation with hepatic involvement relationship: part_of Orphanet:371176 ! Congenital disorder of glycosylation with dilated cardiomyopathy property_value: alternative:term "CDGIt" xsd:string [Term] id: Orphanet:319651 name: Constitutional megaloblastic anemia with severe neurologic disease xref: ICD10:D52.8 xref: OMIM:613839 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:225713 ! Other metabolic disease with epilepsy relationship: part_of Orphanet:285657 ! Disorder of folate metabolism and transport relationship: part_of Orphanet:98408 ! Constitutional megaloblastic anemia due to folate metabolism disorder property_value: alternative:term "DHFR deficiency" xsd:string property_value: alternative:term "Dihydrofolate reductase deficiency" xsd:string [Term] id: Orphanet:319667 name: Primary lymphoma of the conjunctiva is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:279911 ! Primary organ-specific lymphoma property_value: alternative:term "Primary lymphoid conjunctival tumor" xsd:string [Term] id: Orphanet:319671 name: Microcephalic primordial dwarfism, Alazami type xref: ICD10:Q87.1 xref: OMIM:615071 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:324761 ! Microcephalic primordial dwarfism [Term] id: Orphanet:319675 name: Microcephalic primordial dwarfism, Dauber type xref: ICD10:Q87.1 xref: OMIM:614851 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:324761 ! Microcephalic primordial dwarfism [Term] id: Orphanet:319678 name: Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease xref: ICD10:E88.8 xref: OMIM:614654 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:217587 ! Mitochondrial disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:35656 ! Coenzyme Q10 deficiency [Term] id: Orphanet:3197 name: Hereditary hyperekplexia xref: ICD10:G25.8 xref: OMIM:149400 xref: OMIM:614618 xref: OMIM:614619 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183521 ! Rare genetic movement disorder relationship: part_of Orphanet:306773 ! Hyperekplexia relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79219 ! Metabolic disease involving other neurotransmitter deficiency property_value: alternative:term "Congenital stiff man syndrome" xsd:string property_value: alternative:term "Familial startle disease" xsd:string property_value: alternative:term "Hereditary hyperexplexia" xsd:string property_value: alternative:term "Hyperekplexia" xsd:string property_value: alternative:term "Kok disease" xsd:string property_value: alternative:term "Stiff baby syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses." xsd:string [Term] id: Orphanet:3198 name: Stiff person syndrome xref: ICD10:G25.8 xref: MEDDRA:10042044 xref: OMIM:184850 xref: SNOMED CT:5217008 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:102003 ! Rare movement disorder relationship: part_of Orphanet:181381 ! Other rare diabetes mellitus relationship: part_of Orphanet:182064 ! Rare neuroinflammatory or neuroimmunological disease property_value: alternative:term "Moersch-Woltman syndrome" xsd:string property_value: alternative:term "SPS" xsd:string property_value: alternative:term "Stiff man syndrome" xsd:string [Term] id: Orphanet:3199 name: Stimmler syndrome xref: OMIM:202900 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:32 name: Glutathione synthetase deficiency xref: ICD10:D55.1 xref: MESH:C536835 xref: OMIM:231900 xref: OMIM:266130 xref: SNOMED CT:124706000 xref: SNOMED CT:234589002 xref: UMLS:C0398746 xref: UMLS:C1291643 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79196 ! Disorder of the gamma-glutamyl cycle relationship: part_of Orphanet:98370 ! Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies property_value: alternative:term "Pyroglutamicaciduria" xsd:string [Term] id: Orphanet:320 name: Apparent mineralocorticoid excess xref: ICD10:E26.1 xref: MESH:C537422 xref: MESH:D043204 xref: OMIM:218030 xref: SNOMED CT:237770005 xref: UMLS:C0342488 xref: UMLS:C2936861 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101954 ! Rare adrenal disease relationship: part_of Orphanet:156629 ! Genetic hypertension relationship: part_of Orphanet:183637 ! Rare genetic adrenal disease property_value: alternative:term "11-beta-hydroxysteroid dehydrogenase deficiency type 2" xsd:string property_value: alternative:term "Ulick syndrome" xsd:string [Term] id: Orphanet:3201 name: Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence xref: ICD10:Q87.8 xref: OMIM:192445 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Stoll-Kieny-Dott syndrome" xsd:string [Term] id: Orphanet:320176 name: structural maintenance of chromosomes flexible hinge domain containing 1 xref: ENSEMBL:ENSG00000101596 xref: GENATLAS:SMCHD1 xref: HGNC:29090 xref: OMIM:614982 xref: UNIPROTKB/SWISSPROT:A6NHR9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:269 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Facioscapulohumeral dystrophy relationship: Orphanet:317346 Orphanet:269 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Facioscapulohumeral dystrophy property_value: alternative:term "KIAA0650" xsd:string property_value: symbol "SMCHD1" xsd:string [Term] id: Orphanet:320192 name: cytochrome P450, family 26, subfamily C, polypeptide 1 xref: ENSEMBL:ENSG00000187553 xref: GENATLAS:CYP26C1 xref: HGNC:20577 xref: OMIM:608428 xref: REACTOME:Q6V0L0 xref: UNIPROTKB/SWISSPROT:Q6V0L0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79133 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Focal facial dermal dysplasia property_value: symbol "CYP26C1" xsd:string [Term] id: Orphanet:320199 name: La ribonucleoprotein domain family, member 7 xref: ENSEMBL:ENSG00000174720 xref: GENATLAS:LARP7 xref: HGNC:24912 xref: OMIM:612026 xref: UNIPROTKB/SWISSPROT:Q4G0J3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319671 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microcephalic primordial dwarfism, Alazami type property_value: alternative:term "DKFZP564K112" xsd:string property_value: alternative:term "HDCMA18P" xsd:string property_value: alternative:term "P-TEFb-interaction protein for 7SK stability" xsd:string property_value: alternative:term "PIP7S" xsd:string property_value: symbol "LARP7" xsd:string [Term] id: Orphanet:3202 name: Dehydrated hereditary stomatocytosis xref: ICD10:D58.8 xref: OMIM:194380 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98365 ! Stomatocytosis property_value: alternative:term "Hereditary xerocytosis" xsd:string [Term] id: Orphanet:3203 name: Overhydrated hereditary stomatocytosis xref: ICD10:D58.8 xref: OMIM:185000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98365 ! Stomatocytosis [Term] id: Orphanet:320317 name: Cleft lip/palate - ectodermal dysplasia is_a: Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "CLEPD" xsd:string [Term] id: Orphanet:320332 name: X-linked pure spastic paraplegia xref: ICD10:G11.4 is_a: Orphanet:102012 ! Pure hereditary spastic paraplegia [Term] id: Orphanet:320335 name: Pure or complex hereditary spastic paraplegia xref: ICD10:G11.4 is_a: Orphanet:685 ! Hereditary spastic paraplegia property_value: alternative:term "Pure or complex familial spastic paraplegia" xsd:string property_value: alternative:term "Pure or complicated familial spastic paraplegia" xsd:string property_value: alternative:term "Pure or complicated hereditary spastic paraplegia" xsd:string [Term] id: Orphanet:320342 name: Pure or complex autosomal dominant spastic paraplegia xref: ICD10:G11.4 is_a: Orphanet:320335 ! Pure or complex hereditary spastic paraplegia property_value: alternative:term "Pure or complicated autosomal dominant spastic paraplegia" xsd:string [Term] id: Orphanet:320346 name: Pure or complex autosomal recessive spastic paraplegia xref: ICD10:G11.4 is_a: Orphanet:320335 ! Pure or complex hereditary spastic paraplegia property_value: alternative:term "Pure or complicated autosomal recessive spastic paraplegia" xsd:string [Term] id: Orphanet:320350 name: Pure or complex X-linked spastic paraplegia xref: ICD10:G11.4 is_a: Orphanet:320335 ! Pure or complex hereditary spastic paraplegia property_value: alternative:term "Pure or complicated X-linked spastic paraplegia" xsd:string [Term] id: Orphanet:320355 name: Autosomal dominant spastic paraplegia type 41 xref: ICD10:G11.4 xref: OMIM:613364 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100980 ! Autosomal dominant pure spastic paraplegia property_value: alternative:term "SPG41" xsd:string [Term] id: Orphanet:320360 name: Maternally-inherited spastic paraplegia xref: ICD10:G11.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:102013 ! Complex hereditary spastic paraplegia property_value: alternative:term "Maternally-inherited SPG" xsd:string [Term] id: Orphanet:320365 name: Autosomal dominant spastic paraplegia type 36 xref: ICD10:G11.4 xref: OMIM:613096 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100979 ! Autosomal dominant complex spastic paraplegia property_value: alternative:term "SPG36" xsd:string [Term] id: Orphanet:320370 name: Autosomal recessive spastic paraplegia type 43 xref: ICD10:G11.4 xref: OMIM:615043 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100981 ! Autosomal recessive complex spastic paraplegia property_value: alternative:term "SPG43" xsd:string [Term] id: Orphanet:320375 name: Autosomal recessive spastic paraplegia type 55 xref: ICD10:G11.4 xref: OMIM:615035 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100981 ! Autosomal recessive complex spastic paraplegia relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: alternative:term "SPG55" xsd:string [Term] id: Orphanet:320380 name: Autosomal recessive spastic paraplegia type 54 xref: ICD10:G11.4 xref: OMIM:615033 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100981 ! Autosomal recessive complex spastic paraplegia property_value: alternative:term "SPG54" xsd:string [Term] id: Orphanet:320385 name: Autosomal recessive spastic paraplegia type 49 xref: ICD10:G11.4 xref: OMIM:615031 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100981 ! Autosomal recessive complex spastic paraplegia property_value: alternative:term "SPG49" xsd:string [Term] id: Orphanet:320391 name: Autosomal recessive spastic paraplegia type 46 xref: ICD10:G11.4 xref: OMIM:614409 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100981 ! Autosomal recessive complex spastic paraplegia property_value: alternative:term "SPG46" xsd:string [Term] id: Orphanet:320396 name: Autosomal recessive spastic paraplegia type 45 xref: ICD10:G11.4 xref: OMIM:613162 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100981 ! Autosomal recessive complex spastic paraplegia property_value: alternative:term "SPG45" xsd:string [Term] id: Orphanet:3204 name: Stormorken-Sjaastad-Langslet syndrome xref: ICD10:D69.8 xref: OMIM:185070 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:275729 ! Rare hemorrhagic disorder due to a constitutional thrombocytopenia property_value: alternative:term "Thrombocytopathy - asplenia - miosis" xsd:string [Term] id: Orphanet:320401 name: Autosomal recessive spastic paraplegia type 44 xref: ICD10:G11.4 xref: OMIM:613206 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100981 ! Autosomal recessive complex spastic paraplegia property_value: alternative:term "SPG44" xsd:string [Term] id: Orphanet:320406 name: Spastic paraplegia-optic atrophy-neuropathy syndrome xref: ICD10:G11.4 xref: OMIM:609541 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:140450 ! Hereditary motor and sensory neuropathy relationship: part_of Orphanet:320346 ! Pure or complex autosomal recessive spastic paraplegia relationship: part_of Orphanet:98677 ! Autosomal recessive syndromic optic atrophy property_value: alternative:term "SPOAN" xsd:string [Term] id: Orphanet:320411 name: Autosomal recessive spastic paraplegia type 56 xref: ICD10:G11.4 xref: OMIM:615030 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:320346 ! Pure or complex autosomal recessive spastic paraplegia property_value: alternative:term "SPG56" xsd:string [Term] id: Orphanet:3205 name: Sturge-Weber syndrome xref: ICD10:Q85.8 xref: MEDDRA:10042265 xref: MEDDRA:10057653 xref: MESH:D013341 xref: OMIM:185300 xref: SNOMED CT:19886006 xref: UMLS:C0038505 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102006 ! Neurovascular malformation relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations relationship: part_of Orphanet:166466 ! Neurocutaneous syndrome with epilepsy relationship: part_of Orphanet:166487 ! Cerebral diseases of vascular origin with epilepsy relationship: part_of Orphanet:211240 ! Genetic vascular anomaly relationship: part_of Orphanet:211247 ! Capillary malformation relationship: part_of Orphanet:79379 ! Skin vascular disease relationship: part_of Orphanet:93460 ! Overgrowth syndrome relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis relationship: part_of Orphanet:98592 ! Palpebral tumor with a vascular malformation relationship: part_of Orphanet:98612 ! Conjunctival hemangioma or hemolymphangioma relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature property_value: alternative:term "Encephalofacial angiomatosis" xsd:string property_value: alternative:term "Encephalotrigeminal angiomatosis" xsd:string property_value: alternative:term "Sturge-Weber-Krabbe angiomatosis" xsd:string property_value: alternative:term "Sturge-Weber-Krabbe syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies." xsd:string [Term] id: Orphanet:320535 name: EPS8-like 3 xref: ENSEMBL:ENSG00000198758 xref: GENATLAS:EPS8L3 xref: HGNC:21297 xref: OMIM:614989 xref: UNIPROTKB/SWISSPROT:Q8TE67 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:444 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Marie Unna hereditary hypotrichosis property_value: alternative:term "FLJ21522" xsd:string property_value: alternative:term "MGC16817" xsd:string property_value: symbol "EPS8L3" xsd:string [Term] id: Orphanet:320542 name: adaptor-related protein complex 2, sigma 1 subunit xref: ENSEMBL:ENSG00000042753 xref: GENATLAS:AP2S1 xref: HGNC:565 xref: OMIM:602242 xref: REACTOME:P53680 xref: UNIPROTKB/SWISSPROT:P53680 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101050 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hypocalciuric hypercalcemia type 3 property_value: alternative:term "CLAPS2" xsd:string property_value: symbol "AP2S1" xsd:string [Term] id: Orphanet:320561 name: Rho guanine nucleotide exchange factor (GEF) 10 xref: ENSEMBL:ENSG00000104728 xref: GENATLAS:ARHGEF10 xref: HGNC:14103 xref: OMIM:608136 xref: UNIPROTKB/SWISSPROT:O15013 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:140481 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant slowed nerve conduction velocity property_value: alternative:term "Gef10" xsd:string property_value: alternative:term "KIAA0294" xsd:string property_value: symbol "ARHGEF10" xsd:string [Term] id: Orphanet:3206 name: Stüve-Wiedemann syndrome xref: ICD10:Q78.8 xref: MESH:C537502 xref: OMIM:601559 xref: SNOMED CT:254097005 xref: UMLS:C0432240 xref: UMLS:C0796176 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93439 ! Bent bone dysplasia property_value: alternative:term "Stüve-Wiedemann dysplasia" xsd:string [Term] id: Orphanet:320663 name: coiled-coil domain containing 88C xref: ENSEMBL:ENSG00000015133 xref: GENATLAS:CCDC88C xref: HGNC:19967 xref: OMIM:611204 xref: UNIPROTKB/SWISSPROT:Q9P219 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:269510 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital non-communicating hydrocephalus property_value: alternative:term "DAPLE" xsd:string property_value: alternative:term "Dvl-associating protein with a high frequency of leucine residues" xsd:string property_value: alternative:term "HkRP2" xsd:string property_value: alternative:term "KIAA1509" xsd:string property_value: symbol "CCDC88C" xsd:string [Term] id: Orphanet:3207 name: White matter hypoplasia - corpus callosum agenesis - intellectual deficit is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:199639 ! Syndrome with corpus callosum agenesis /dysgenesis as a major feature property_value: alternative:term "Curatolo-Cilio-Pessagno syndrome" xsd:string [Term] id: Orphanet:320756 name: anoctamin 3 xref: ENSEMBL:ENSG00000134343 xref: GENATLAS:ANO3 xref: HGNC:14004 xref: OMIM:610110 xref: REACTOME:Q9BYT9 xref: UNIPROTKB/SWISSPROT:Q9BYT9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93962 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant cervical dystonia property_value: alternative:term "C11orf25" xsd:string property_value: alternative:term "Chromosome 11 open reading frame 25" xsd:string property_value: alternative:term "DYT23" xsd:string property_value: alternative:term "GENX-3947" xsd:string property_value: alternative:term "TMEM16C" xsd:string property_value: alternative:term "Transmembrane protein 16C" xsd:string property_value: alternative:term "Transmembrane protein 16C (eight membrane-spanning domains)" xsd:string property_value: symbol "ANO3" xsd:string [Term] id: Orphanet:320765 name: dehydrogenase E1 and transketolase domain containing 1 xref: ENSEMBL:ENSG00000181192 xref: GENATLAS:DHTKD1 xref: HGNC:23537 xref: OMIM:614984 xref: UNIPROTKB/SWISSPROT:Q96HY7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:329258 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Charcot-Marie-Tooth disease type 2Q relationship: Orphanet:317343 Orphanet:79154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 2-aminoadipic 2-oxoadipic aciduria property_value: alternative:term "DKFZP762M115" xsd:string property_value: alternative:term "KIAA1630" xsd:string property_value: alternative:term "MGC3090" xsd:string property_value: symbol "DHTKD1" xsd:string [Term] id: Orphanet:320785 name: solute carrier family 5 (sodium/choline cotransporter), member 7 xref: ENSEMBL:ENSG00000115665 xref: GENATLAS:SLC5A7 xref: HGNC:14025 xref: OMIM:608761 xref: REACTOME:Q9GZV3 xref: UNIPROTKB/SWISSPROT:Q9GZV3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:139589 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Distal hereditary motor neuropathy type 7 property_value: alternative:term "CHT1" xsd:string property_value: alternative:term "hCHT" xsd:string property_value: alternative:term "Solute carrier family 5 (choline transporter), member 7" xsd:string property_value: symbol "SLC5A7" xsd:string [Term] id: Orphanet:320793 name: actin, gamma 2, smooth muscle, enteric xref: ENSEMBL:ENSG00000163017 xref: GENATLAS:ACTG2 xref: HGNC:145 xref: OMIM:102545 xref: REACTOME:P63267 xref: UNIPROTKB/SWISSPROT:P63267 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2604 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial visceral myopathy property_value: alternative:term "ACTA3" xsd:string property_value: alternative:term "ACTL3" xsd:string property_value: alternative:term "ACTSG" xsd:string property_value: symbol "ACTG2" xsd:string [Term] id: Orphanet:3208 name: Isolated succinate-CoQ reductase deficiency xref: ICD10:G71.3 xref: OMIM:252011 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:206966 ! Mitochondrial myopathy relationship: part_of Orphanet:254846 ! Isolated oxidative phosphorylation complex disorder property_value: alternative:term "Isolated mitochondrial respiratory chain complex II deficiency" xsd:string property_value: alternative:term "Isolated succinate-coenzyme Q reductase deficiency" xsd:string property_value: alternative:term "Isolated succinate-ubiquinone reductase deficiency" xsd:string [Term] id: Orphanet:320815 name: signal transducer and activator of transcription 4 xref: ENSEMBL:ENSG00000138378 xref: GENATLAS:STAT4 xref: HGNC:11365 xref: OMIM:600558 xref: UNIPROTKB/SWISSPROT:Q14765 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:117 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Behçet disease relationship: Orphanet:317345 Orphanet:85408 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Juvenile rheumatoid factor-negative polyarthritis relationship: Orphanet:317345 Orphanet:85410 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Oligoarticular juvenile arthritis relationship: Orphanet:317345 Orphanet:93552 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Pediatric systemic lupus erythematosus property_value: symbol "STAT4" xsd:string [Term] id: Orphanet:321 name: Multiple osteochondromas xref: ICD10:Q78.6 xref: OMIM:133700 xref: OMIM:133701 xref: OMIM:600209 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:183527 ! Genetic bone tumor relationship: part_of Orphanet:309450 ! Disorder of O-xylosylglycan synthesis relationship: part_of Orphanet:371195 ! Congenital disorder of glycosylation-related bone disorder relationship: part_of Orphanet:68411 ! Rare bone tumor relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components property_value: alternative:term "Bessel-Hagen disease" xsd:string property_value: alternative:term "EXT1/EXT2-CDG" xsd:string property_value: alternative:term "Multiple cartilaginous exostoses" xsd:string [Term] id: Orphanet:3210 name: Summitt syndrome xref: ICD10:Q82.0 xref: MESH:C538142 xref: OMIM:272350 xref: SNOMED CT:403767009 xref: UMLS:C1802405 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis [Term] id: Orphanet:3212 name: Autosomal dominant optic atrophy and congenital deafness xref: ICD10:H47.2 xref: OMIM:125250 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254822 ! Mitochondrial oxidative phosphorylation disorder with no known mechanism relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98672 ! Autosomal dominant optic atrophy property_value: alternative:term "Konigsmark-Knox-Hussels syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant optic atrophy and congenital deafness (ADOAD) is a form of autosomal dominant optic atrophy, (ADOA; see this term) characterized by congenital severe deafness and progressive mid-life visual failure." xsd:string [Term] id: Orphanet:3213 name: Deafness - opticoacoustic nerve atrophy - dementia is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_52368 with label: Mohr-Tranebjaerg syndrome" xsd:string [Term] id: Orphanet:321333 name: DNA-damage-inducible transcript 3 xref: ENSEMBL:ENSG00000175197 xref: GENATLAS:DDIT3 xref: HGNC:2726 xref: OMIM:126337 xref: REACTOME:P35638 xref: UNIPROTKB/SWISSPROT:P35638 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:99967 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Myxoid/round cell liposarcoma property_value: alternative:term "C/EBP zeta" xsd:string property_value: alternative:term "CHOP" xsd:string property_value: alternative:term "CHOP10" xsd:string property_value: alternative:term "GADD153" xsd:string property_value: symbol "DDIT3" xsd:string [Term] id: Orphanet:321350 name: MDM2 oncogene, E3 ubiquitin protein ligase xref: ENSEMBL:ENSG00000135679 xref: GENATLAS:MDM2 xref: HGNC:6973 xref: OMIM:164785 xref: REACTOME:Q00987 xref: UNIPROTKB/SWISSPROT:Q00987 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:99970 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dedifferentiated liposarcoma relationship: Orphanet:317349 Orphanet:99971 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Well-differentiated liposarcoma property_value: alternative:term "HDM2" xsd:string property_value: alternative:term "HDMX" xsd:string property_value: alternative:term "Mdm2 p53 binding protein homolog (mouse)" xsd:string property_value: alternative:term "Mdm2, p53 E3 ubiquitin protein ligase homolog (mouse)" xsd:string property_value: alternative:term "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)" xsd:string property_value: alternative:term "MGC5370" xsd:string property_value: alternative:term "Mouse double minute 2, human homolog of; p53-binding protein" xsd:string property_value: symbol "MDM2" xsd:string [Term] id: Orphanet:321364 name: transmembrane protein 231 xref: ENSEMBL:ENSG00000205084 xref: HGNC:37234 xref: OMIM:614949 xref: UNIPROTKB/SWISSPROT:Q9H6L2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:220493 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome with ocular defect relationship: Orphanet:317343 Orphanet:475 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Joubert syndrome relationship: Orphanet:317343 Orphanet:564 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Meckel syndrome property_value: alternative:term "ALYE870" xsd:string property_value: alternative:term "FLJ22167" xsd:string property_value: alternative:term "PRO1886" xsd:string property_value: symbol "TMEM231" xsd:string [Term] id: Orphanet:3214 name: Deaf blind hypopigmentation syndrome, Yemenite type xref: MESH:C536771 xref: OMIM:601706 xref: UMLS:C1866425 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183469 ! Genetic hypopigmentation of the skin relationship: part_of Orphanet:79376 ! Hypopigmentation of the skin relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Warburg-Thomsen syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Deaf blind hypopigmentation syndrome, Yemenite type is characterised by cutaneous hypomelanotic and pigmented spots, microcornea, coloboma, severe hearing loss and normal karyotypes." xsd:string [Term] id: Orphanet:321573 name: cytochrome P450, family 2, subfamily U, polypeptide 1 xref: ENSEMBL:ENSG00000155016 xref: GENATLAS:CYP2U1 xref: HGNC:20582 xref: OMIM:610670 xref: REACTOME:Q7Z449 xref: UNIPROTKB/SWISSPROT:Q7Z449 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:320411 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 56 property_value: alternative:term "spastic paraplegia 49" xsd:string property_value: alternative:term "SPG49" xsd:string property_value: symbol "CYP2U1" xsd:string [Term] id: Orphanet:321575 name: DDHD domain containing 2 xref: ENSEMBL:ENSG00000085788 xref: GENATLAS:DDHD2 xref: HGNC:29106 xref: OMIM:615003 xref: UNIPROTKB/SWISSPROT:O94830 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:320380 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 54 property_value: alternative:term "KIAA0725" xsd:string property_value: alternative:term "SAM, WWE and DDHD domain containing 1" xsd:string property_value: alternative:term "SAMWD1" xsd:string property_value: alternative:term "SPG54" xsd:string property_value: symbol "DDHD2" xsd:string [Term] id: Orphanet:321589 name: tectonin beta-propeller repeat containing 2 xref: ENSEMBL:ENSG00000196663 xref: GENATLAS:TECPR2 xref: HGNC:19957 xref: OMIM:615000 xref: UNIPROTKB/SWISSPROT:O15040 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:320385 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 49 property_value: alternative:term "KIAA0329" xsd:string property_value: symbol "TECPR2" xsd:string [Term] id: Orphanet:321640 name: solute carrier family 52 (riboflavin transporter), member 1 xref: ENSEMBL:ENSG00000132517 xref: GENATLAS:GPR172B xref: HGNC:30225 xref: OMIM:607883 xref: UNIPROTKB/SWISSPROT:Q9NWF4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:329942 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Transient neonatal multiple acyl-CoA dehydrogenase deficiency property_value: alternative:term "FLJ10060" xsd:string property_value: alternative:term "G protein-coupled receptor 172B" xsd:string property_value: alternative:term "GPCR42" xsd:string property_value: alternative:term "GPR172B" xsd:string property_value: alternative:term "hRFT1" xsd:string property_value: alternative:term "PAR2" xsd:string property_value: alternative:term "RFVT1" xsd:string property_value: alternative:term "Riboflavin transporter 1" xsd:string property_value: alternative:term "Solute carrier family 52, riboflavin transporter, member 1" xsd:string property_value: symbol "SLC52A1" xsd:string [Term] id: Orphanet:3217 name: Deafness - small bowel diverticulosis - neuropathy xref: OMIM:221400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Groll-Hirschowitz syndrome" xsd:string [Term] id: Orphanet:3218 name: Deafness - epiphyseal dysplasia - short stature xref: OMIM:601351 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Chitty-Hall-Baraitser syndrome" xsd:string [Term] id: Orphanet:3219 name: Fountain syndrome xref: ICD10:Q87.8 xref: MESH:C537270 xref: OMIM:229120 xref: UMLS:C0795944 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Deafness - skeletal dysplasia - coarse face with full lips" xsd:string property_value: alternative:term "Deafness - skeletal dysplasia - lip granuloma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual deficit, deafness, skeletal abnormalities and coarse facial features." xsd:string [Term] id: Orphanet:322 name: Exstrophy-epispadias complex xref: ICD10:Q64.1 xref: OMIM:258040 xref: OMIM:600057 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108977 ! Nonsyndromic diaphragmatic or abdominal wall malformation relationship: part_of Orphanet:182124 ! Nonsyndromic urogenital tract malformation of male and female relationship: part_of Orphanet:357506 ! Genetic nonsyndromic renal or urinary tract malformation relationship: part_of Orphanet:93546 ! Nonsyndromic renal or urinary tract malformation property_value: alternative:term "BEEC" xsd:string property_value: alternative:term "Bladder exstrophy-epispadias-cloacal extrophy complex" xsd:string property_value: alternative:term "EEC" xsd:string [Term] id: Orphanet:3220 name: Deafness - enamel hypoplasia - nail defects xref: MESH:C535994 xref: OMIM:234580 xref: UMLS:C1856186 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Heimler syndrome" xsd:string [Term] id: Orphanet:322097 name: patatin-like phospholipase domain containing 1 xref: ENSEMBL:ENSG00000180316 xref: GENATLAS:PNPLA1 xref: HGNC:21246 xref: OMIM:612121 xref: UNIPROTKB/SWISSPROT:Q8N8W4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79394 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital non-bullous ichthyosiform erythroderma property_value: alternative:term "dJ50J22.1" xsd:string property_value: alternative:term "FLJ38755" xsd:string property_value: symbol "PNPLA1" xsd:string [Term] id: Orphanet:3221 name: Generalized resistance to thyroid hormone xref: ICD10:E07.8 xref: OMIM:188570 xref: OMIM:274300 xref: SNOMED CT:237560005 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:181399 ! Rare hyperthyroidism relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Deafness - thyroid hormone resistance" xsd:string property_value: alternative:term "Refetoff syndrome" xsd:string [Term] id: Orphanet:322104 name: leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 xref: ENSEMBL:ENSG00000183423 xref: GENATLAS:LRIT3 xref: HGNC:24783 xref: OMIM:615004 xref: UNIPROTKB/SWISSPROT:Q3SXY7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:215 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital stationary night blindness property_value: alternative:term "Fibronectin type III, immunoglobulin and leucine rich repeat domains 4" xsd:string property_value: alternative:term "FIGLER4" xsd:string property_value: alternative:term "FLJ44691" xsd:string property_value: symbol "LRIT3" xsd:string [Term] id: Orphanet:322126 name: Genetic tumor of hematopoietic and lymphoid tissues is_a: Orphanet:68336 ! Rare genetic tumor [Term] id: Orphanet:3222 name: Phosphoribosylpyrophosphate synthetase superactivity xref: ICD10:E79.8 xref: OMIM:300661 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182076 ! Syndromic neurometabolic disease with X-linked intellectual deficit relationship: part_of Orphanet:79191 ! Disorder of purine metabolism relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease [Term] id: Orphanet:3224 name: Deafness - genital anomalies - metacarpal and metatarsal synostosis xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Pfeiffer-Kapferer syndrome" xsd:string [Term] id: Orphanet:3225 name: Hearing loss - familial salivary gland insensitivity to aldosterone is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Tungland-Bellman syndrome" xsd:string [Term] id: Orphanet:3226 name: Deafness - lymphedema - leukemia xref: ICD10:Q82.0 xref: OMIM:614038 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68347 ! Tumor of hematopoietic and lymphoid tissues relationship: part_of Orphanet:89832 ! Syndromic lymphedema relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Emberger syndrome" xsd:string [Term] id: Orphanet:322841 name: mesenchyme homeobox 1 xref: ENSEMBL:ENSG00000005102 xref: GENATLAS:MEOX1 xref: HGNC:7013 xref: OMIM:600147 xref: UNIPROTKB/SWISSPROT:P50221 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2345 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated Klippel-Feil syndrome property_value: alternative:term "mesenchyme homeo box 1" xsd:string property_value: alternative:term "MOX1" xsd:string property_value: symbol "MEOX1" xsd:string [Term] id: Orphanet:322852 name: small nuclear ribonucleoprotein polypeptide E xref: ENSEMBL:ENSG00000182004 xref: GENATLAS:SNRPE xref: HGNC:11161 xref: OMIM:128260 xref: REACTOME:P62304 xref: UNIPROTKB/SWISSPROT:P62304 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:55654 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypotrichosis simplex property_value: alternative:term "Sm-E" xsd:string property_value: symbol "SNRPE" xsd:string [Term] id: Orphanet:322975 name: Usher syndrome 1K (autosomal recessive) xref: HGNC:43724 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:231169 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Usher syndrome type 1 property_value: symbol "USH1K" xsd:string [Term] id: Orphanet:3230 name: Deafness - oligodontia xref: MESH:C538049 xref: OMIM:221740 xref: UMLS:C1857333 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:3231 name: Deafness - onychodystrophy xref: ICD10:Q87.8 xref: OMIM:124480 xref: OMIM:220500 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:79370 ! Syndromic nail anomaly relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:3232 name: Deafness - ear malformation - facial palsy xref: ICD10:Q87.0 xref: OMIM:124490 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Sellars-Beighton syndrome" xsd:string [Term] id: Orphanet:3233 name: Cochleosaccular degeneration - cataract xref: OMIM:120040 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98641 ! Syndromic cataract [Term] id: Orphanet:323398 name: coiled-coil domain containing 114 xref: ENSEMBL:ENSG00000105479 xref: GENATLAS:CCDC114 xref: HGNC:26560 xref: OMIM:615038 xref: UNIPROTKB/SWISSPROT:Q96M63 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "CILD20" xsd:string property_value: alternative:term "FLJ32926" xsd:string property_value: symbol "CCDC114" xsd:string [Term] id: Orphanet:323407 name: endothelin converting enzyme-like 1 xref: ENSEMBL:ENSG00000171551 xref: GENATLAS:ECEL1 xref: HGNC:3147 xref: OMIM:605896 xref: UNIPROTKB/SWISSPROT:O95672 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:329457 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Distal arthrogryposis type 5D property_value: alternative:term "Damage induced neuronal endopeptidase" xsd:string property_value: alternative:term "DINE" xsd:string property_value: alternative:term "XCE" xsd:string property_value: symbol "ECEL1" xsd:string [Term] id: Orphanet:323427 name: inositol polyphosphate phosphatase-like 1 xref: ENSEMBL:ENSG00000165458 xref: GENATLAS:INPPL1 xref: HGNC:6080 xref: OMIM:600829 xref: REACTOME:O15357 xref: UNIPROTKB/SWISSPROT:O15357 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2746 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Opsismodysplasia property_value: alternative:term "51C protein" xsd:string property_value: alternative:term "SHIP2" xsd:string property_value: symbol "INPPL1" xsd:string [Term] id: Orphanet:323437 name: ectopic P-granules autophagy protein 5 homolog (C. elegans) xref: ENSEMBL:ENSG00000152223 xref: GENATLAS:EPG5 xref: HGNC:29331 xref: OMIM:615068 xref: UNIPROTKB/SWISSPROT:Q9HCE0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1493 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Vici syndrome property_value: alternative:term "hEPG5" xsd:string property_value: alternative:term "KIAA1632" xsd:string property_value: symbol "EPG5" xsd:string [Term] id: Orphanet:323464 name: zinc finger protein 141 xref: GENATLAS:ZNF141 xref: HGNC:12926 xref: OMIM:194648 xref: REACTOME:Q15928 xref: UNIPROTKB/SWISSPROT:Q15928 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:295165 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Postaxial polydactyly type A, bilateral property_value: alternative:term "D4S90" xsd:string property_value: alternative:term "pHZ-44" xsd:string property_value: alternative:term "Zinc finger protein 141 (clone pHZ-44)" xsd:string property_value: symbol "ZNF141" xsd:string [Term] id: Orphanet:323471 name: multiple PDZ domain protein xref: ENSEMBL:ENSG00000107186 xref: GENATLAS:MPDZ xref: HGNC:7208 xref: OMIM:603785 xref: UNIPROTKB/SWISSPROT:O75970 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:269505 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital communicating hydrocephalus property_value: alternative:term "MUPP1" xsd:string property_value: symbol "MPDZ" xsd:string [Term] id: Orphanet:3235 name: Progressive deafness with stapes fixation xref: ICD10:H74.3 xref: OMIM:601449 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Stapedo-vestibular ankylosis" xsd:string property_value: alternative:term "Thies-Reis syndrome" xsd:string [Term] id: Orphanet:3236 name: Conductive deafness - ptosis - skeletal anomalies xref: MESH:C535993 xref: OMIM:221320 xref: UMLS:C1857340 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Jackson-Barr syndrome" xsd:string [Term] id: Orphanet:3237 name: Multiple synostoses syndrome xref: ICD10:Q78.8 xref: OMIM:186500 xref: OMIM:610017 xref: OMIM:612961 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:93459 ! Syndrome with synostosis or other joint formation defect property_value: alternative:term "Deafness - symphalangism syndrome, Hermann type" xsd:string property_value: alternative:term "Facio-audio-symphalangism" xsd:string property_value: alternative:term "Symphalangism - brachydactyly" xsd:string property_value: alternative:term "WL syndrome" xsd:string [Term] id: Orphanet:3238 name: Cardiospondylocarpofacial syndrome xref: OMIM:157800 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Forney syndrome" xsd:string property_value: alternative:term "Forney-Robinson-Pascoe syndrome" xsd:string property_value: alternative:term "Mitral regurgitation - deafness - skeletal anomalies" xsd:string [Term] id: Orphanet:3239 name: Deafness - vitiligo - achalasia xref: ICD10:Q87.8 xref: OMIM:221350 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:324 name: Fabry disease xref: ICD10:E75.2 xref: MEDDRA:10016016 xref: MESH:D000795 xref: OMIM:301500 xref: SNOMED CT:124464003 xref: SNOMED CT:16652001 xref: UMLS:C0002986 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:139009 ! Developmental anomaly of metabolic origin relationship: part_of Orphanet:183478 ! Genetic skin vascular disease relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:217581 ! Lysosomal disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:217638 ! Lysosomal disease with restrictive cardiomyopathy relationship: part_of Orphanet:371442 ! Sphingolipidosis with epilepsy relationship: part_of Orphanet:79225 ! Sphingolipidosis relationship: part_of Orphanet:79379 ! Skin vascular disease relationship: part_of Orphanet:89832 ! Syndromic lymphedema relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease relationship: part_of Orphanet:98644 ! Cataract associated with a metabolic disease relationship: part_of Orphanet:98711 ! Metabolic disease with corneal opacity property_value: alternative:term "Alpha-galactosidase A deficiency" xsd:string property_value: alternative:term "Anderson-Fabry disease" xsd:string property_value: alternative:term "Angiokeratoma corporis diffusum" xsd:string property_value: alternative:term "Diffuse angiokeratoma" xsd:string property_value: alternative:term "FD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations." xsd:string [Term] id: Orphanet:3240 name: Central nervous system calcification - deafness - tubular acidosis - anemia is_a: Orphanet:377792 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical syndrome relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:314822 ! Primary renal tubular acidosis relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Yoshimura-Takeshita syndrome" xsd:string [Term] id: Orphanet:3241 name: Deafness-craniofacial syndrome xref: ICD10:Q87.0 xref: OMIM:125230 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:3242 name: Renpenning syndrome xref: ICD10:Q87.5 xref: OMIM:309500 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "X-linked intellectual deficit due to PQBP1 mutations" xsd:string property_value: alternative:term "X-linked intellectual deficit, Renpenning type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature." xsd:string [Term] id: Orphanet:324240 name: nucleolar protein 3 (apoptosis repressor with CARD domain) xref: ENSEMBL:ENSG00000140939 xref: GENATLAS:NOL3 xref: HGNC:7869 xref: OMIM:605235 xref: UNIPROTKB/SWISSPROT:O60936 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319189 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial cortical myoclonus property_value: alternative:term "ARC" xsd:string property_value: alternative:term "CARD2" xsd:string property_value: alternative:term "MYP" xsd:string property_value: alternative:term "NOP30" xsd:string property_value: symbol "NOL3" xsd:string [Term] id: Orphanet:324251 name: vacuolar protein sorting 37 homolog A (S. cerevisiae) xref: ENSEMBL:ENSG00000155975 xref: GENATLAS:VPS37A xref: HGNC:24928 xref: OMIM:609927 xref: REACTOME:Q8NEZ2 xref: UNIPROTKB/SWISSPROT:Q8NEZ2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319199 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 53 property_value: alternative:term "FLJ32642" xsd:string property_value: alternative:term "HCRP1" xsd:string property_value: alternative:term "Hepatocellular carcinoma related protein 1" xsd:string property_value: alternative:term "Polyglutamine binding protein 2" xsd:string property_value: alternative:term "PQBP2" xsd:string property_value: alternative:term "SPG53" xsd:string property_value: alternative:term "Vacuolar protein sorting 37A (yeast)" xsd:string property_value: symbol "VPS37A" xsd:string [Term] id: Orphanet:324262 name: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency xref: ICD10:G11.1 xref: OMIM:614831 is_a: Orphanet:363429 ! Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 property_value: alternative:term "Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency" xsd:string [Term] id: Orphanet:324290 name: Early-onset Lafora body disease xref: ICD10:G40.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98261 ! Progressive myoclonic epilepsy [Term] id: Orphanet:324294 name: T-cell immunodeficiency with epidermodysplasia verruciformis xref: ICD10:D84.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:331193 ! Other immunodeficiency syndromes due to defects in innate immunity property_value: alternative:term "T-cell immunodeficiency due to RHOH deficiency" xsd:string [Term] id: Orphanet:324299 name: Multiple paragangliomas associated with polycythemia is_a: Orphanet:276621 ! Sporadic pheochromocytoma/secreting paraganglioma relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 property_value: alternative:term "Multiple paragangliomas associated with erythrocytosis" xsd:string property_value: alternative:term "Paraganglioma - somatostatinoma - polycythemia" xsd:string [Term] id: Orphanet:3243 name: Sweet syndrome xref: ICD10:L98.2 xref: MEDDRA:10000748 xref: MESH:D016463 xref: OMIM:608068 xref: SNOMED CT:84625002 xref: UMLS:C0085077 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90077 ! Other acquired skin disease property_value: alternative:term "Acute febrile neutrophilic dermatosis" xsd:string [Term] id: Orphanet:324307 name: Severe lateral tibial bowing with short stature xref: ICD10:Q68.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93439 ! Bent bone dysplasia [Term] id: Orphanet:324313 name: 9p13 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:261929 ! Partial deletion of the short arm of chromosome 9 property_value: alternative:term "Del(9)(p13)" xsd:string property_value: alternative:term "Monosomy 9p13" xsd:string [Term] id: Orphanet:324321 name: Sinoatrial node dysfunction and deafness xref: OMIM:614896 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:324353 name: Congenital achiasma xref: ICD10:H47.4 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98518 ! Cranial nerve and nuclear aplasia [Term] id: Orphanet:324364 name: Mixed sclerosing bone dystrophy with extra-skeletal manifestations xref: ICD10:Q87.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density [Term] id: Orphanet:324381 name: Hereditary inclusion body myopathy type 4 xref: ICD10:G71.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206662 ! Inclusion myopathy property_value: alternative:term "HIBM4" xsd:string [Term] id: Orphanet:324410 name: X-linked intellectual deficit - cardiomegaly - congestive heart failure xref: OMIM:300886 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:324416 name: Muscular hypertrophy - hepatomegaly - polyhydramnios is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183533 ! Genetic multiple congenital anomalies/dysmorphic syndrome relationship: part_of Orphanet:68341 ! Multiple congenital anomalies/dysmorphic syndrome [Term] id: Orphanet:324422 name: ALG13-CDG xref: ICD10:E77.8 xref: OMIM:300884 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature relationship: part_of Orphanet:371157 ! Congenital disorder of glycosylation with hepatic involvement property_value: alternative:term "CDG syndrome type Is" xsd:string property_value: alternative:term "CDG-Is" xsd:string property_value: alternative:term "CDG1S" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type 1s" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type Is" xsd:string [Term] id: Orphanet:324442 name: Autosomal recessive axonal neuropathy with neuromyotonia xref: ICD10:G60.0 xref: OMIM:137200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:91024 ! Autosomal recessive axonal Charcot-Marie-Tooth disease type 2 property_value: alternative:term "ARAN-NM" xsd:string property_value: alternative:term "ARCMT2-NM" xsd:string property_value: alternative:term "Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia" xsd:string [Term] id: Orphanet:324525 name: Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:217587 ! Mitochondrial disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:254776 ! Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA relationship: part_of Orphanet:314822 ! Primary renal tubular acidosis property_value: alternative:term "Hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation" xsd:string [Term] id: Orphanet:324530 name: Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation xref: OMIM:614878 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:324933 ! Mixed autoinflammatory and autoimmune syndrome property_value: alternative:term "aPLAID" xsd:string [Term] id: Orphanet:324535 name: Combined oxidative phosphorylation defect type 11 xref: OMIM:614922 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "COXPD11" xsd:string [Term] id: Orphanet:324540 name: Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual deficit xref: ICD10:Q87.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Aphonia - deafness - retinal dystrophy - duplicated halluces - intellectual deficit" xsd:string [Term] id: Orphanet:324561 name: Hypopigmentation-punctate palmoplantar keratoderma syndrome xref: ICD10:Q82.8 xref: OMIM:615522 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:308031 ! Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature property_value: alternative:term "Cole disease" xsd:string property_value: alternative:term "Guttate hypopigmentation and punctate palmoplantar keratoderma" xsd:string property_value: alternative:term "Hypopigmentation and punctate keratosis of the palms and soles" xsd:string [Term] id: Orphanet:324569 name: Pontocerebellar hypoplasia type 8 xref: ICD10:Q04.3 xref: OMIM:614961 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98523 ! Nonsyndromic pontocerebellar hypoplasia property_value: alternative:term "PCH8" xsd:string property_value: alternative:term "Pontocerebellar hypoplasia due to CHMP1A mutation" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." xsd:string [Term] id: Orphanet:324575 name: Hyperinsulinism due to HNF1A deficiency xref: ICD10:E16.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:165985 ! Diazoxide-sensitive diffuse hyperinsulinism property_value: alternative:term "Hyperinsulinemic hypoglycemia due to HNF1A deficiency" xsd:string [Term] id: Orphanet:324581 name: Benign Samaritan congenital myopathy xref: ICD10:G71.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:97245 ! Congenital myopathy [Term] id: Orphanet:324585 name: Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain xref: ICD10:G60.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90114 ! Autosomal dominant intermediate Charcot-Marie-Tooth disease [Term] id: Orphanet:324588 name: Familial dyskinesia and facial myokymia xref: ICD10:G24.8 xref: ICD10:G51.4 xref: OMIM:606703 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:306768 ! Rare paroxysmal movement disorder property_value: alternative:term "FDFM" xsd:string [Term] id: Orphanet:3246 name: Symphalangism with multiple anomalies of hands and feet xref: ICD10:Q74.8 xref: OMIM:185750 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy relationship: part_of Orphanet:93459 ! Syndrome with synostosis or other joint formation defect property_value: alternative:term "Learman syndrome" xsd:string [Term] id: Orphanet:324601 name: X-linked cleft palate and ankyloglossia xref: ICD10:Q35 xref: ICD10:Q38.1 xref: OMIM:303400 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome [Term] id: Orphanet:324604 name: Classic multiminicore myopathy xref: ICD10:G71.2 xref: OMIM:602771 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:598 ! Multiminicore myopathy property_value: alternative:term "Classic MmD" xsd:string property_value: alternative:term "Classic multiminicore disease" xsd:string [Term] id: Orphanet:324611 name: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation xref: ICD10:G60.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:64746 ! Autosomal dominant Charcot-Marie-Tooth disease type 2 property_value: alternative:term "CMT due to KIF5A mutation" xsd:string [Term] id: Orphanet:324625 name: Chikungunya xref: ICD10:A92.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:344 ! Arbovirus fever [Term] id: Orphanet:324632 name: Hendra virus infection xref: ICD10:B33.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98252 ! Infectious encephalitis [Term] id: Orphanet:324636 name: Autoerythrocyte sensitization syndrome xref: ICD10:D69.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:315350 ! Autoimmune disease with skin involvement property_value: alternative:term "Gardner-Diamond syndrome" xsd:string property_value: alternative:term "GDS" xsd:string property_value: alternative:term "Painful bruising syndrome" xsd:string property_value: alternative:term "Psychogenic purpura" xsd:string [Term] id: Orphanet:324648 name: Invasive non-typhoidal salmonellosis xref: ICD10:A02.0 xref: ICD10:A02.1 xref: ICD10:A02.2 xref: ICD10:A02.8 xref: ICD10:A02.9 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:795 ! Rare form of salmonellosis [Term] id: Orphanet:324703 name: Hereditary cerebral hemorrhage with amyloidosis, Piedmont type xref: ICD10:E85.4+ xref: ICD10:I68.0* xref: OMIM:605714 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:85458 ! Hereditary cerebral hemorrhage with amyloidosis property_value: alternative:term "HCHWA, Piedmont type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline." xsd:string [Term] id: Orphanet:324708 name: Hereditary cerebral hemorrhage with amyloidosis, Iowa type xref: ICD10:E85.4+ xref: ICD10:I68.0* xref: OMIM:605714 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:85458 ! Hereditary cerebral hemorrhage with amyloidosis property_value: alternative:term "HCHWA, Iowa type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA (see this term) characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages." xsd:string [Term] id: Orphanet:324713 name: Hereditary cerebral hemorrhage with amyloidosis, Italian type xref: ICD10:E85.4+ xref: ICD10:I68.0* xref: OMIM:605714 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:85458 ! Hereditary cerebral hemorrhage with amyloidosis property_value: alternative:term "HCHWA, Italian type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA (see this term) characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage." xsd:string [Term] id: Orphanet:324718 name: Hereditary cerebral hemorrhage with amyloidosis, Flemish type xref: ICD10:E85.4+ xref: ICD10:I68.0* xref: OMIM:605714 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:85458 ! Hereditary cerebral hemorrhage with amyloidosis property_value: alternative:term "HCHWA, Flemish type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA (see this term) characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients." xsd:string [Term] id: Orphanet:324723 name: Hereditary cerebral hemorrhage with amyloidosis, Arctic type xref: ICD10:E85.4+ xref: ICD10:I68.0* xref: OMIM:605714 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:85458 ! Hereditary cerebral hemorrhage with amyloidosis property_value: alternative:term "HCHWA, Arctic type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages." xsd:string [Term] id: Orphanet:324737 name: SRD5A3-CDG xref: ICD10:E77.8 xref: OMIM:612379 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:309526 ! Disorder of multiple glycosylation relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371200 ! Congenital disorder of glycosylation with skin involvement relationship: part_of Orphanet:98558 ! Rare eye disease due to a differentiation anomaly property_value: alternative:term "CDG-Iq" xsd:string property_value: alternative:term "CDG1Q" xsd:string property_value: alternative:term "Congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency" xsd:string [Term] id: Orphanet:324761 name: Microcephalic primordial dwarfism xref: ICD10:Q87.1 is_a: Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit is_a: Orphanet:102369 ! Rare intellectual deficit with developmental anomaly is_a: Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly is_a: Orphanet:269528 ! Syndrome with microcephaly as major feature is_a: Orphanet:93440 ! Slender bone dysplasia [Term] id: Orphanet:324764 name: Trichorhinophalangeal syndrome xref: ICD10:Q87.8 is_a: Orphanet:79373 ! Ectodermal dysplasia syndrome is_a: Orphanet:93436 ! Acromelic dysplasia [Term] id: Orphanet:324767 name: Non-familial rare disease with dilated cardiomyopathy is_a: Orphanet:217629 ! Non-familial dilated cardiomyopathy [Term] id: Orphanet:3248 name: Distal symphalangism xref: ICD10:Q70.9 xref: OMIM:185700 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294949 ! Joint formation defects [Term] id: Orphanet:324924 name: Hereditary periodic fever syndrome is_a: Orphanet:101995 ! Periodic fever syndrome is_a: Orphanet:271870 ! Rare genetic systemic or rheumatologic disease [Term] id: Orphanet:324927 name: Pyogenic autoinflammatory syndrome is_a: Orphanet:93665 ! Autoinflammatory syndrome [Term] id: Orphanet:324930 name: Granulomatous autoinflammatory syndrome is_a: Orphanet:93665 ! Autoinflammatory syndrome [Term] id: Orphanet:324933 name: Mixed autoinflammatory and autoimmune syndrome is_a: Orphanet:93665 ! Autoinflammatory syndrome [Term] id: Orphanet:324936 name: Unclassified autoinflammatory syndrome is_a: Orphanet:93665 ! Autoinflammatory syndrome [Term] id: Orphanet:324964 name: Chronic recurrent multifocal osteomyelitis xref: ICD10:M86.3 xref: OMIM:259680 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:324927 ! Pyogenic autoinflammatory syndrome property_value: alternative:term "CRMO" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine." xsd:string [Term] id: Orphanet:324972 name: MAGIC syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:324936 ! Unclassified autoinflammatory syndrome property_value: alternative:term "Mouth and genital ulcers with inflamed cartilage" xsd:string [Term] id: Orphanet:324977 name: Proteasome disability syndrome xref: OMIM:256040 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:324936 ! Unclassified autoinflammatory syndrome property_value: alternative:term "PMSB8 deficiency" xsd:string [Term] id: Orphanet:324982 name: Adult-onset SAPHO syndrome xref: ICD10:M86.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:793 ! SAPHO syndrome property_value: alternative:term "Adult-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome" xsd:string [Term] id: Orphanet:324989 name: Juvenile-onset SAPHO syndrome xref: ICD10:M86.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:793 ! SAPHO syndrome property_value: alternative:term "Juvenile-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome" xsd:string [Term] id: Orphanet:324999 name: JMP syndrome xref: OMIM:256040 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:324977 ! Proteasome disability syndrome property_value: alternative:term "Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome" xsd:string [Term] id: Orphanet:325 name: Congenital factor II deficiency xref: ICD10:D68.2 xref: OMIM:613679 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:169826 ! Congenital vitamin K-dependent coagulation factors deficiency property_value: alternative:term "Dysprothrombinemia" xsd:string property_value: alternative:term "Hypoprothrombinemia" xsd:string property_value: alternative:term "Prothrombin deficiency" xsd:string [Term] id: Orphanet:3250 name: Proximal symphalangism xref: ICD10:Q70.9 xref: MESH:C536223 xref: OMIM:185800 xref: OMIM:615298 xref: UMLS:C1861385 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93459 ! Syndrome with synostosis or other joint formation defect property_value: alternative:term "Symphalangism, Cushing type" xsd:string [Term] id: Orphanet:325004 name: CANDLE syndrome xref: OMIM:256040 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:324977 ! Proteasome disability syndrome property_value: alternative:term "Chromic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome" xsd:string [Term] id: Orphanet:325017 name: cytochrome c oxidase subunit VIIb xref: ENSEMBL:ENSG00000131174 xref: GENATLAS:COX7B xref: HGNC:2291 xref: OMIM:300885 xref: REACTOME:P24311 xref: UNIPROTKB/SWISSPROT:P24311 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2556 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microphthalmia with linear skin defects syndrome property_value: symbol "COX7B" xsd:string [Term] id: Orphanet:325022 name: ninein (GSK3B interacting protein) xref: ENSEMBL:ENSG00000100503 xref: GENATLAS:NIN xref: HGNC:14906 xref: OMIM:608684 xref: UNIPROTKB/SWISSPROT:Q8N4C6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319675 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microcephalic primordial dwarfism, Dauber type property_value: symbol "NIN" xsd:string [Term] id: Orphanet:325055 name: 46,XX disorder of gonadal development is_a: Orphanet:2982 ! 46,XX disorder of sex development is_a: Orphanet:325697 ! Genetic 46,XX disorder of sex development [Term] id: Orphanet:325061 name: 46,XX disorder of sex development induced by fetoplacental androgens excess is_a: Orphanet:325665 ! Genetic disorder of sex development of gynecological interest is_a: Orphanet:325697 ! Genetic 46,XX disorder of sex development is_a: Orphanet:98078 ! 46,XX disorder of sex development induced by androgens excess property_value: alternative:term "46,XX DSD induced by fetoplacental androgens excess" xsd:string [Term] id: Orphanet:325093 name: 46,XX disorder of sex development induced by endogenous maternal-derived androgen xref: ICD10:Q56.2 is_a: Orphanet:91144 ! 46,XX disorder of sex development induced by maternal-derived androgen property_value: alternative:term "46,XX DSD induced by endogenous maternal-derived androgen" xsd:string [Term] id: Orphanet:325099 name: 46,XX disorder of sex development induced by exogenous maternal-derived androgen xref: ICD10:Q56.2 is_a: Orphanet:91144 ! 46,XX disorder of sex development induced by maternal-derived androgen property_value: alternative:term "46,XX DSD induced by exogenous maternal-derived androgen" xsd:string [Term] id: Orphanet:325109 name: Syndrome with 46,XX disorder of sex development is_a: Orphanet:2982 ! 46,XX disorder of sex development is_a: Orphanet:325697 ! Genetic 46,XX disorder of sex development property_value: alternative:term "Syndrome with 46,XX DSD" xsd:string [Term] id: Orphanet:325118 name: 46,XY disorder of gonadal development is_a: Orphanet:325706 ! Genetic 46,XY disorder of sex development is_a: Orphanet:98085 ! 46,XY disorder of sex development [Term] id: Orphanet:325124 name: Testicular agenesis xref: ICD10:Q55.0 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:325118 ! 46,XY disorder of gonadal development property_value: alternative:term "Bilateral anorchia" xsd:string [Term] id: Orphanet:325132 name: mitochondrial ribosomal protein L3 xref: ENSEMBL:ENSG00000114686 xref: GENATLAS:MRPL3 xref: HGNC:10379 xref: OMIM:607118 xref: UNIPROTKB/SWISSPROT:P09001 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:319509 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined oxidative phosphorylation defect type 9 property_value: alternative:term "MRL3" xsd:string property_value: alternative:term "RPML3" xsd:string property_value: symbol "MRPL3" xsd:string [Term] id: Orphanet:325261 name: v-crk avian sarcoma virus CT10 oncogene homolog-like xref: ENSEMBL:ENSG00000099942 xref: GENATLAS:CRKL xref: HGNC:2363 xref: OMIM:602007 xref: REACTOME:P46109 xref: UNIPROTKB/SWISSPROT:P46109 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:261330 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Distal 22q11.2 microdeletion syndrome property_value: alternative:term "v-crk sarcoma virus CT10 oncogene homolog (avian)-like" xsd:string property_value: symbol "CRKL" xsd:string [Term] id: Orphanet:325281 name: TNF receptor-associated factor 6, E3 ubiquitin protein ligase xref: ENSEMBL:ENSG00000175104 xref: GENATLAS:TRAF6 xref: HGNC:12036 xref: OMIM:602355 xref: REACTOME:Q9Y4K3 xref: UNIPROTKB/SWISSPROT:Q9Y4K3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1810 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant hypohidrotic ectodermal dysplasia property_value: alternative:term "RNF85" xsd:string property_value: alternative:term "TNF receptor-associated factor 6" xsd:string property_value: symbol "TRAF6" xsd:string [Term] id: Orphanet:325286 name: ectodysplasin A2 receptor xref: ENSEMBL:ENSG00000131080 xref: GENATLAS:EDA2R xref: HGNC:17756 xref: OMIM:300276 xref: UNIPROTKB/SWISSPROT:Q9HAV5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:181 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked hypohidrotic ectodermal dysplasia property_value: alternative:term "EDA-A2R" xsd:string property_value: alternative:term "EDAA2R" xsd:string property_value: alternative:term "TNFRSF27" xsd:string property_value: alternative:term "XEDAR" xsd:string property_value: symbol "EDA2R" xsd:string [Term] id: Orphanet:3253 name: Zlotogora-Ogur syndrome xref: MESH:C536726 xref: OMIM:225060 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:320317 ! Cleft lip/palate - ectodermal dysplasia property_value: alternative:term "Cleft lip/palate-ectodermal dysplasia syndrome" xsd:string property_value: alternative:term "Cleft lip/palate-syndactyly-pili torti" xsd:string property_value: alternative:term "CLPED1" xsd:string property_value: alternative:term "Syndactyly-ectodermal dysplasia-cleft/lip palate" xsd:string property_value: alternative:term "Zlotogora-Zilberman-Tenenbaum syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and in some cases, intellectual disability" xsd:string [Term] id: Orphanet:325345 name: 46,XY ovotesticular disorder of sex development is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:325118 ! 46,XY disorder of gonadal development relationship: part_of Orphanet:98074 ! Gonadal dysgenesis of gynecological interest property_value: alternative:term "46,XY ovotesticular DSD" xsd:string [Term] id: Orphanet:325351 name: 46,XY disorder of sex development of endocrine origin is_a: Orphanet:98085 ! 46,XY disorder of sex development property_value: alternative:term "46,XY DSD of endocrine origin" xsd:string [Term] id: Orphanet:325357 name: 46,XY disorder of sex development due to impaired androgen production is_a: Orphanet:325351 ! 46,XY disorder of sex development of endocrine origin is_a: Orphanet:325713 ! Genetic 46,XY disorder of sex development of endocrine origin property_value: alternative:term "46,XY DSD due to impaired androgen production" xsd:string [Term] id: Orphanet:325448 name: Leydig cell hypoplasia due to LHB deficiency xref: ICD10:Q56.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:755 ! Leydig cell hypoplasia property_value: alternative:term "46,XY disorder of sex development due to LHB deficiency" xsd:string property_value: alternative:term "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency" xsd:string property_value: alternative:term "46,XY DSD due to LHB deficiency" xsd:string property_value: alternative:term "46,XY DSD due to luteinizing hormone subunit beta deficiency" xsd:string property_value: alternative:term "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency" xsd:string [Term] id: Orphanet:3255 name: Filippi syndrome xref: ICD10:Q87.8 xref: MESH:C538152 xref: OMIM:272440 xref: UMLS:C0795940 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "Syndactyly type 1 - microcephaly - intellectual deficit" xsd:string [Term] id: Orphanet:325511 name: 46,XY disorder of sex development due to cholesterol synthesis defect is_a: Orphanet:90783 ! 46,XY disorder of sex development due to testosterone synthesis defect property_value: alternative:term "46,XY DSD due to cholesterol synthesis defect" xsd:string [Term] id: Orphanet:325524 name: Classic congenital lipoid adrenal hyperplasia due to STAR deficency xref: ICD10:E25.0 is_a: Orphanet:90790 ! Congenital lipoid adrenal hyperplasia due to STAR deficency property_value: alternative:term "Classic CLAH" xsd:string [Term] id: Orphanet:325529 name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency xref: ICD10:E25.0 is_a: Orphanet:90790 ! Congenital lipoid adrenal hyperplasia due to STAR deficency [Term] id: Orphanet:325537 name: 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors is_a: Orphanet:325351 ! 46,XY disorder of sex development of endocrine origin property_value: alternative:term "46,XY DSD induced by maternal-exposure to endocrine disruptors" xsd:string [Term] id: Orphanet:325546 name: Sex chromosome disorder of sex development is_a: Orphanet:325690 ! Genetic disorder of sex development is_a: Orphanet:90771 ! Disorder of sex development property_value: alternative:term "Sex chromosome DSD" xsd:string [Term] id: Orphanet:325620 name: Disorder of sex development of gynecological interest is_a: Orphanet:96344 ! Rare gynecologic or obstetric disease property_value: alternative:term "DSD of gynecological interest" xsd:string [Term] id: Orphanet:325632 name: 46,XY disorder of sex development of gynecological interest is_a: Orphanet:325620 ! Disorder of sex development of gynecological interest is_a: Orphanet:325665 ! Genetic disorder of sex development of gynecological interest property_value: alternative:term "46,XY DSD of gynecological interest" xsd:string [Term] id: Orphanet:325638 name: Syndrome with disorder of sex development of gynecological interest is_a: Orphanet:325620 ! Disorder of sex development of gynecological interest is_a: Orphanet:325665 ! Genetic disorder of sex development of gynecological interest property_value: alternative:term "Syndrome with DSD of gynecological interest" xsd:string [Term] id: Orphanet:325665 name: Genetic disorder of sex development of gynecological interest is_a: Orphanet:183731 ! Rare genetic gynecological and obstetrical diseases property_value: alternative:term "Genetic DSD of gynecological interest" xsd:string [Term] id: Orphanet:325671 name: spastic paraplegia 41 (autosomal dominant) xref: HGNC:34382 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:320355 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal dominant spastic paraplegia type 41 property_value: symbol "SPG41" xsd:string [Term] id: Orphanet:325673 name: spastic paraplegia 36 (autosomal dominant) xref: HGNC:33240 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:320365 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant spastic paraplegia type 36 property_value: symbol "SPG36" xsd:string [Term] id: Orphanet:325681 name: spastic paraplegia 45 (autosomal recessive) xref: HGNC:35431 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:320396 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 45 property_value: symbol "SPG45" xsd:string [Term] id: Orphanet:325690 name: Genetic disorder of sex development is_a: Orphanet:156619 ! Rare genetic urogenital disease is_a: Orphanet:156638 ! Rare genetic endocrine disease is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis property_value: alternative:term "Genetic DSD" xsd:string [Term] id: Orphanet:325697 name: Genetic 46,XX disorder of sex development is_a: Orphanet:325690 ! Genetic disorder of sex development property_value: alternative:term "Genetic 46,XX DSD" xsd:string property_value: alternative:term "Genetic female pseudohermaphrodism" xsd:string [Term] id: Orphanet:325706 name: Genetic 46,XY disorder of sex development is_a: Orphanet:325690 ! Genetic disorder of sex development property_value: alternative:term "Genetic 46,XY DSD" xsd:string [Term] id: Orphanet:325713 name: Genetic 46,XY disorder of sex development of endocrine origin is_a: Orphanet:325706 ! Genetic 46,XY disorder of sex development property_value: alternative:term "Genetic 46,XY DSD of endocrine origin" xsd:string [Term] id: Orphanet:3258 name: Cenani-Lenz syndrome xref: ICD10:Q78.4 xref: OMIM:212780 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "Cenani syndactyly" xsd:string property_value: alternative:term "Cenani-Lenz syndactyly" xsd:string property_value: alternative:term "Syndactyly type 7" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs." xsd:string [Term] id: Orphanet:3259 name: Syndactyly-polydactyly-ear lobe syndrome xref: OMIM:186350 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy [Term] id: Orphanet:325976 name: sodium channel, voltage-gated, type X, alpha subunit xref: ENSEMBL:ENSG00000185313 xref: GENATLAS:SCN10A xref: HGNC:10582 xref: IUPHAR:585 xref: OMIM:604427 xref: UNIPROTKB/SWISSPROT:Q9Y5Y9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:306577 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sodium channelopathy-related small fiber neuropathy relationship: Orphanet:327767 Orphanet:46348 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Paroxysmal extreme pain disorder relationship: Orphanet:327767 Orphanet:88642 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Channelopathy-associated congenital insensitivity to pain relationship: Orphanet:327767 Orphanet:90026 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Primary erythermalgia property_value: alternative:term "hPN3" xsd:string property_value: alternative:term "Nav1.8" xsd:string property_value: alternative:term "PN3" xsd:string property_value: alternative:term "SNS" xsd:string property_value: alternative:term "Sodium channel, voltage-gated, type X, alpha polypeptide" xsd:string property_value: symbol "SCN10A" xsd:string [Term] id: Orphanet:326 name: Congenital factor V deficiency xref: ICD10:D68.2 xref: OMIM:227400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:68334 ! Rare hemorrhagic disorder due to a constitutional coagulation factors defect property_value: alternative:term "Owren disease" xsd:string property_value: alternative:term "Parahemophilia" xsd:string property_value: alternative:term "Proaccelerin deficiency" xsd:string [Term] id: Orphanet:3260 name: Idiopathic hypereosinophilic syndrome xref: ICD10:D47.5 xref: OMIM:607685 xref: SNOMED CT:414450004 xref: SNOMED CT:423294001 xref: UMLS:C0206141 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:168956 ! Hypereosinophilic syndrome [Term] id: Orphanet:326052 name: COX20 cytochrome C oxidase assembly factor xref: ENSEMBL:ENSG00000203667 xref: GENATLAS:FAM36A xref: HGNC:26970 xref: OMIM:614698 xref: UNIPROTKB/SWISSPROT:Q5RI15 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:254905 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated cytochrome C oxidase deficiency property_value: alternative:term "COX20 Cox2 chaperone homolog (S. cerevisiae)" xsd:string property_value: alternative:term "FAM36A" xsd:string property_value: alternative:term "Family with sequence similarity 36, member A" xsd:string property_value: alternative:term "FLJ43269" xsd:string property_value: symbol "COX20" xsd:string [Term] id: Orphanet:326069 name: protein phosphatase, Mg2+/Mn2+ dependent, 1K xref: ENSEMBL:ENSG00000163644 xref: GENATLAS:PPM1K xref: HGNC:25415 xref: OMIM:611065 xref: UNIPROTKB/SWISSPROT:Q8N3J5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:268162 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intermediate maple syrup urine disease property_value: alternative:term "#945;-ketoacid dehydrogenase phosphatase" xsd:string property_value: alternative:term "#945;-ketoacid dehydrogenase phosphatase'" xsd:string property_value: alternative:term "BDP" xsd:string property_value: alternative:term "DKFZp761G058" xsd:string property_value: alternative:term "hPTMP" xsd:string property_value: alternative:term "PP2C-type mitochondrial phosphoprotein phosphatase" xsd:string property_value: alternative:term "PP2Ckappa" xsd:string property_value: alternative:term "PP2Cm" xsd:string property_value: alternative:term "Protein phosphatase 1K (PP2C domain containing)" xsd:string property_value: alternative:term "Protein phosphatase 2C kappa" xsd:string property_value: symbol "PPM1K" xsd:string [Term] id: Orphanet:326078 name: signal transducer and activator of transcription 6, interleukin-4 induced xref: ENSEMBL:ENSG00000166888 xref: GENATLAS:STAT6 xref: HGNC:11368 xref: OMIM:601512 xref: REACTOME:P42226 xref: UNIPROTKB/SWISSPROT:P42226 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:2126 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Solitary fibrous tumor property_value: alternative:term "D12S1644" xsd:string property_value: alternative:term "IL-4-STAT" xsd:string property_value: symbol "STAT6" xsd:string [Term] id: Orphanet:326081 name: NGFI-A binding protein 2 (EGR1 binding protein 2) xref: ENSEMBL:ENSG00000166886 xref: GENATLAS:NAB2 xref: HGNC:7627 xref: OMIM:602381 xref: UNIPROTKB/SWISSPROT:Q15742 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:2126 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Solitary fibrous tumor property_value: alternative:term "MADER" xsd:string property_value: symbol "NAB2" xsd:string [Term] id: Orphanet:326090 name: brain expressed, associated with NEDD4, 1 xref: ENSEMBL:ENSG00000166546 xref: GENATLAS:BEAN xref: HGNC:24160 xref: OMIM:612051 xref: UNIPROTKB/SWISSPROT:Q3B7T3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:217012 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spinocerebellar ataxia type 31 property_value: symbol "BEAN1" xsd:string [Term] id: Orphanet:3261 name: Autoimmune lymphoproliferative syndrome xref: ICD10:D72.8 xref: MEDDRA:10069521 xref: MESH:D056735 xref: OMIM:601859 xref: OMIM:603909 xref: OMIM:614470 xref: UMLS:C1328840 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:169355 ! Immunodeficiency syndrome with autoimmunity relationship: part_of Orphanet:171898 ! Lymphoid hemopathy relationship: part_of Orphanet:238510 ! Lymphoproliferative syndrome property_value: alternative:term "ALPS" xsd:string property_value: alternative:term "Canale-Smith syndrome" xsd:string property_value: alternative:term "FAS deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineagecytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma." xsd:string [Term] id: Orphanet:3262 name: Syngnathia multiple anomalies is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93453 ! Dysostosis with predominant craniofacial involvement [Term] id: Orphanet:3263 name: Syngnathia - cleft palate is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome [Term] id: Orphanet:3265 name: Humero-radial synostosis xref: ICD10:Q74.0 xref: OMIM:143050 xref: OMIM:236400 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294949 ! Joint formation defects [Term] id: Orphanet:326554 name: polyhomeotic homolog 1 (Drosophila) xref: ENSEMBL:ENSG00000111752 xref: GENATLAS:PHC1 xref: HGNC:3182 xref: OMIM:602978 xref: REACTOME:P78364 xref: UNIPROTKB/SWISSPROT:P78364 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2512 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive primary microcephaly property_value: alternative:term "Early development regulator 1 (homolog of polyhomeotic 1)" xsd:string property_value: alternative:term "EDR1" xsd:string property_value: alternative:term "HPH1" xsd:string property_value: alternative:term "Polyhomeotic-like 1 (Drosophila)" xsd:string property_value: alternative:term "RAE28" xsd:string property_value: symbol "PHC1" xsd:string [Term] id: Orphanet:3266 name: Humero-radio-ulnar synostosis xref: ICD10:Q74.0 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294949 ! Joint formation defects [Term] id: Orphanet:326692 name: disrupted in renal carcinoma 3 xref: ENSEMBL:ENSG00000231672 xref: GENATLAS:DIRC3 xref: HGNC:17805 xref: OMIM:608262 xref: UNIPROTKB/SWISSPROT:C9JPN6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Papillary or follicular thyroid carcinoma relationship: Orphanet:317348 Orphanet:151 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial renal cell carcinoma property_value: alternative:term "FLJ14199" xsd:string property_value: symbol "DIRC3" xsd:string [Term] id: Orphanet:3267 name: Familial lambdoid synostosis xref: ICD10:Q75.0 xref: OMIM:600775 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:139390 ! Isolated craniosynostosis [Term] id: Orphanet:326706 name: transcription factor EB xref: ENSEMBL:ENSG00000112561 xref: GENATLAS:TFEB xref: HGNC:11753 xref: OMIM:600744 xref: UNIPROTKB/SWISSPROT:P19484 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:319308 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Translocation renal cell carcinoma property_value: alternative:term "bHLHe35" xsd:string property_value: alternative:term "TCFEB" xsd:string property_value: symbol "TFEB" xsd:string [Term] id: Orphanet:326742 name: clathrin, heavy chain (Hc) xref: ENSEMBL:ENSG00000141367 xref: GENATLAS:CLTC xref: HGNC:2092 xref: OMIM:118955 xref: REACTOME:Q00610 xref: UNIPROTKB/SWISSPROT:Q00610 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:178342 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Inflammatory myofibroblastic tumor relationship: Orphanet:317348 Orphanet:319308 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Translocation renal cell carcinoma property_value: alternative:term "clathrin, heavy chain" xsd:string property_value: alternative:term "clathrin, heavy polypeptide (Hc)" xsd:string property_value: alternative:term "Clathrin, heavy polypeptide-like 2" xsd:string property_value: alternative:term "CLTCL2" xsd:string property_value: alternative:term "Hc" xsd:string property_value: symbol "CLTC" xsd:string [Term] id: Orphanet:326747 name: splicing factor proline/glutamine-rich xref: ENSEMBL:ENSG00000116560 xref: GENATLAS:SFPQ xref: HGNC:10774 xref: OMIM:605199 xref: UNIPROTKB/SWISSPROT:P23246 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:319308 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Translocation renal cell carcinoma property_value: alternative:term "Polypyrimidine tract binding protein associated" xsd:string property_value: alternative:term "PSF" xsd:string property_value: alternative:term "splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)" xsd:string property_value: symbol "SFPQ" xsd:string [Term] id: Orphanet:326751 name: non-POU domain containing, octamer-binding xref: ENSEMBL:ENSG00000147140 xref: GENATLAS:NONO xref: HGNC:7871 xref: OMIM:300084 xref: UNIPROTKB/SWISSPROT:Q15233 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:319308 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Translocation renal cell carcinoma property_value: alternative:term "NMT55" xsd:string property_value: alternative:term "non-Pou domain-containing octamer (ATGCAAAT) binding protein" xsd:string property_value: alternative:term "non-POU-domain-containing, octamer-binding" xsd:string property_value: alternative:term "NRB54" xsd:string property_value: alternative:term "Nuclear RNA-binding protein, 54-kD" xsd:string property_value: alternative:term "P54" xsd:string property_value: alternative:term "P54NRB" xsd:string property_value: symbol "NONO" xsd:string [Term] id: Orphanet:3268 name: Synostosis - microcephaly - scoliosis xref: OMIM:603438 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93459 ! Syndrome with synostosis or other joint formation defect property_value: alternative:term "Giuffré-Tsukahara syndrome" xsd:string property_value: alternative:term "Tsukahara syndrome" xsd:string [Term] id: Orphanet:326843 name: mindbomb E3 ubiquitin protein ligase 1 xref: ENSEMBL:ENSG00000101752 xref: GENATLAS:MIB1 xref: HGNC:21086 xref: OMIM:608677 xref: REACTOME:Q86YT6 xref: UNIPROTKB/SWISSPROT:Q86YT6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:54260 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Left ventricular noncompaction property_value: alternative:term "DIP-1" xsd:string property_value: alternative:term "KIAA1323" xsd:string property_value: alternative:term "MIB" xsd:string property_value: alternative:term "Mindbomb homolog 1 (Drosophila)" xsd:string property_value: alternative:term "ZZANK2" xsd:string property_value: alternative:term "ZZZ6" xsd:string property_value: symbol "MIB1" xsd:string [Term] id: Orphanet:326886 name: killin, p53-regulated DNA replication inhibitor xref: ENSEMBL:ENSG00000227268 xref: HGNC:37212 xref: OMIM:612105 xref: UNIPROTKB/SWISSPROT:B2CW77 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:201 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cowden syndrome relationship: Orphanet:317345 Orphanet:227535 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary breast cancer property_value: alternative:term "killin" xsd:string property_value: symbol "KLLN" xsd:string [Term] id: Orphanet:3269 name: Proximal radioulnar synostosis xref: ICD10:Q74.0 xref: OMIM:179300 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294949 ! Joint formation defects [Term] id: Orphanet:327 name: Congenital factor VII deficiency xref: ICD10:D68.2 xref: OMIM:227500 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:169826 ! Congenital vitamin K-dependent coagulation factors deficiency property_value: alternative:term "Congenital proconvertin deficiency" xsd:string property_value: alternative:term "Hypoproconvertinemia" xsd:string [Term] id: Orphanet:3270 name: Radio-ulnar synostosis - intellectual deficit - hypotonia xref: ICD10:Q87.8 xref: OMIM:266255 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:93459 ! Syndrome with synostosis or other joint formation defect property_value: alternative:term "Der Kaloustian-McIntosh-Silver syndrome" xsd:string [Term] id: Orphanet:3271 name: Radio-ulnar synostosis - retinal pigment abnormalities is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_193 with label: Cohen syndrome" xsd:string [Term] id: Orphanet:327283 name: glutamate receptor, metabotropic 1 xref: ENSEMBL:ENSG00000152822 xref: GENATLAS:GRM1 xref: HGNC:4593 xref: IUPHAR:289 xref: OMIM:604473 xref: REACTOME:Q13255 xref: UNIPROTKB/SWISSPROT:Q13255 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:324262 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency property_value: alternative:term "GPRC1A" xsd:string property_value: alternative:term "mGlu1" xsd:string property_value: alternative:term "MGLUR1" xsd:string property_value: symbol "GRM1" xsd:string [Term] id: Orphanet:327288 name: WD repeat domain 81 xref: ENSEMBL:ENSG00000167716 xref: HGNC:26600 xref: OMIM:614218 xref: UNIPROTKB/SWISSPROT:Q562E7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1766 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dysequilibrium syndrome property_value: alternative:term "FLJ33817" xsd:string property_value: symbol "WDR81" xsd:string [Term] id: Orphanet:327290 name: carbonic anhydrase VIII xref: ENSEMBL:ENSG00000178538 xref: GENATLAS:CA8 xref: HGNC:1382 xref: OMIM:114815 xref: UNIPROTKB/SWISSPROT:P35219 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1766 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dysequilibrium syndrome property_value: alternative:term "CALS" xsd:string property_value: alternative:term "CARP" xsd:string property_value: symbol "CA8" xsd:string [Term] id: Orphanet:327294 name: ATPase, aminophospholipid transporter, class I, type 8A, member 2 xref: ENSEMBL:ENSG00000132932 xref: GENATLAS:ATP8A2 xref: HGNC:13533 xref: OMIM:605870 xref: REACTOME:Q9NTI2 xref: UNIPROTKB/SWISSPROT:Q9NTI2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1766 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dysequilibrium syndrome property_value: alternative:term "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2" xsd:string property_value: alternative:term "ATPIB" xsd:string property_value: alternative:term "ML-1" xsd:string property_value: symbol "ATP8A2" xsd:string [Term] id: Orphanet:327299 name: PR domain containing 8 xref: ENSEMBL:ENSG00000152784 xref: GENATLAS:PRDM8 xref: HGNC:13993 xref: UNIPROTKB/SWISSPROT:Q9NQV8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:324290 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early-onset Lafora body disease property_value: symbol "PRDM8" xsd:string [Term] id: Orphanet:3273 name: Synovial sarcoma xref: ICD10:C49.9 xref: OMIM:300813 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:3394 ! Soft tissue sarcoma property_value: alternative:term "Synovialosarcoma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Synovial sarcoma is a rare and aggressive soft tissue tumor, which despite its name, does not appear to be of synovial origin, but rather from multipotent stem cells that differentiate into mesenchymal and/or epithelial structures. Clinically, it appears as deep-seated, painless, slowly growing masses most frequently located to lower and upper extremities, especially in periarticular regions of large joints." xsd:string [Term] id: Orphanet:327301 name: ras homolog family member H xref: ENSEMBL:ENSG00000168421 xref: GENATLAS:RHOH xref: HGNC:686 xref: OMIM:602037 xref: REACTOME:Q15669 xref: UNIPROTKB/SWISSPROT:Q15669 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:324294 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! T-cell immunodeficiency with epidermodysplasia verruciformis property_value: alternative:term "ARHH" xsd:string property_value: alternative:term "ras homolog gene family, member H" xsd:string property_value: alternative:term "RhoH" xsd:string property_value: alternative:term "TTF" xsd:string property_value: symbol "RHOH" xsd:string [Term] id: Orphanet:327310 name: calcium channel, voltage-dependent, L type, alpha 1D subunit xref: ENSEMBL:ENSG00000157388 xref: GENATLAS:CACNA1D xref: HGNC:1391 xref: IUPHAR:530 xref: OMIM:114206 xref: REACTOME:Q01668 xref: UNIPROTKB/SWISSPROT:Q01668 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:324321 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sinoatrial node dysfunction and deafness relationship: Orphanet:317343 Orphanet:369929 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Aldosterone-producing adenoma with seizures and neurological abnormalities property_value: alternative:term "CACH3" xsd:string property_value: alternative:term "CACN4" xsd:string property_value: alternative:term "CACNL1A2" xsd:string property_value: alternative:term "Cav1.3" xsd:string property_value: alternative:term "CCHL1A2" xsd:string property_value: symbol "CACNA1D" xsd:string [Term] id: Orphanet:327331 name: chloride intracellular channel 2 xref: ENSEMBL:ENSG00000155962 xref: GENATLAS:CLIC2 xref: HGNC:2063 xref: OMIM:300138 xref: UNIPROTKB/SWISSPROT:O15247 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:324410 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked intellectual deficit - cardiomegaly - congestive heart failure property_value: alternative:term "XAP121" xsd:string property_value: symbol "CLIC2" xsd:string [Term] id: Orphanet:327338 name: ALG13, UDP-N-acetylglucosaminyltransferase subunit xref: ENSEMBL:ENSG00000101901 xref: GENATLAS:ALG13 xref: HGNC:30881 xref: OMIM:300776 xref: REACTOME:Q9NP73 xref: UNIPROTKB/SWISSPROT:Q9NP73 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:324422 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! ALG13-CDG property_value: alternative:term "Asparagine-linked glycosylation 13 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "Chromosome X open reading frame 45" xsd:string property_value: alternative:term "CXorf45" xsd:string property_value: alternative:term "FLJ23018" xsd:string property_value: alternative:term "GLT28D1" xsd:string property_value: alternative:term "Glycosyltransferase 28 domain containing 1" xsd:string property_value: alternative:term "MDS031" xsd:string property_value: alternative:term "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase" xsd:string property_value: alternative:term "TDRD13" xsd:string property_value: alternative:term "Tudor domain containing 13" xsd:string property_value: alternative:term "YGL047W" xsd:string property_value: symbol "ALG13" xsd:string [Term] id: Orphanet:327364 name: histidine triad nucleotide binding protein 1 xref: ENSEMBL:ENSG00000169567 xref: GENATLAS:HINT1 xref: HGNC:4912 xref: OMIM:601314 xref: UNIPROTKB/SWISSPROT:P49773 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:324442 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive axonal neuropathy with neuromyotonia property_value: alternative:term "HINT" xsd:string property_value: alternative:term "Histidine triad nucleotide-binding protein" xsd:string property_value: alternative:term "PKCI-1" xsd:string property_value: alternative:term "PRKCNH1" xsd:string property_value: symbol "HINT1" xsd:string [Term] id: Orphanet:327379 name: required for meiotic nuclear division 1 homolog (S. cerevisiae) xref: ENSEMBL:ENSG00000155906 xref: GENATLAS:RMND1 xref: HGNC:21176 xref: OMIM:614917 xref: UNIPROTKB/SWISSPROT:Q9NWS8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:324535 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Combined oxidative phosphorylation defect type 11 property_value: alternative:term "bA351K16.3" xsd:string property_value: alternative:term "C6orf96" xsd:string property_value: alternative:term "Chromosome 6 open reading frame 96" xsd:string property_value: alternative:term "FLJ20627" xsd:string property_value: alternative:term "RMD1" xsd:string property_value: symbol "RMND1" xsd:string [Term] id: Orphanet:327388 name: charged multivesicular body protein 1A xref: ENSEMBL:ENSG00000131165 xref: GENATLAS:CHMP1A xref: HGNC:8740 xref: OMIM:164010 xref: UNIPROTKB/SWISSPROT:Q9HD42 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:324569 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pontocerebellar hypoplasia type 8 property_value: alternative:term "CHMP1" xsd:string property_value: alternative:term "Chromatin modifying protein 1A" xsd:string property_value: alternative:term "KIAA0047" xsd:string property_value: alternative:term "PCOLN3" xsd:string property_value: alternative:term "Procollagen (type III) N-endopeptidase" xsd:string property_value: alternative:term "PRSM1" xsd:string property_value: alternative:term "Vps46A" xsd:string property_value: symbol "CHMP1A" xsd:string [Term] id: Orphanet:3274 name: Granulomatous arthritis of childhood is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_90340 with label: Blau syndrome" xsd:string [Term] id: Orphanet:327400 name: adenylate cyclase 5 xref: ENSEMBL:ENSG00000173175 xref: GENATLAS:ADCY5 xref: HGNC:236 xref: OMIM:600293 xref: REACTOME:O95622 xref: UNIPROTKB/SWISSPROT:O95622 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:324588 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial dyskinesia and facial myokymia property_value: alternative:term "AC5" xsd:string property_value: symbol "ADCY5" xsd:string [Term] id: Orphanet:3275 name: Spondylocarpotarsal synostosis xref: ICD10:Q76.4 xref: OMIM:272460 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93425 ! Filamin-related bone disorder relationship: part_of Orphanet:93434 ! Spondylodysplastic dysplasia property_value: alternative:term "Synspondylism" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism." xsd:string [Term] id: Orphanet:327795 name: TIA1 cytotoxic granule-associated RNA binding protein xref: ENSEMBL:ENSG00000116001 xref: GENATLAS:TIA1 xref: HGNC:11802 xref: OMIM:603518 xref: UNIPROTKB/SWISSPROT:P31483 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:603 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Distal myopathy, Welander type property_value: alternative:term "Nucleolysin TIA-1 isoform p40" xsd:string property_value: alternative:term "T-cell-restricted intracellular antigen-1" xsd:string property_value: alternative:term "TIA1 cytotoxic granule-associated RNA-binding protein" xsd:string property_value: symbol "TIA1" xsd:string [Term] id: Orphanet:328 name: Congenital factor X deficiency xref: ICD10:D68.2 xref: OMIM:227600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:169826 ! Congenital vitamin K-dependent coagulation factors deficiency property_value: alternative:term "Congenital Stuart factor deficiency" xsd:string property_value: alternative:term "Stuart-Prower factor deficiency" xsd:string [Term] id: Orphanet:3280 name: Syringomyelia xref: ICD10:G95.0 xref: MEDDRA:10042928 xref: MESH:D013595 xref: OMIM:186700 xref: SNOMED CT:111496009 xref: UMLS:C0039144 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102000 ! Medullar disease property_value: alternative:term "Hydromelia" xsd:string [Term] id: Orphanet:3282 name: Multifocal atrial tachycardia xref: ICD10:I47.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:218439 ! Acquired cardiac rythm disease property_value: alternative:term "Chaotic atrial tachycardia" xsd:string property_value: alternative:term "MAT" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic." xsd:string [Term] id: Orphanet:3283 name: His bundle tachycardia xref: ICD10:I47.2 xref: SNOMED CT:233901002 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease property_value: alternative:term "JET" xsd:string property_value: alternative:term "Junctional ectopic tachycardia" xsd:string [Term] id: Orphanet:3286 name: Catecholaminergic polymorphic ventricular tachycardia xref: ICD10:I47.2 xref: OMIM:604772 xref: OMIM:611938 xref: OMIM:614021 xref: OMIM:614916 xref: OMIM:615441 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease property_value: alternative:term "Bidirectional tachycardia" xsd:string property_value: alternative:term "Bidirectional tachycardia induced by catecholamine" xsd:string property_value: alternative:term "CPVT" xsd:string property_value: alternative:term "Double tachycardia induced by catecholamines" xsd:string property_value: alternative:term "Malignant paroxysmal ventricular tachycardia" xsd:string property_value: alternative:term "Multifocal ventricular premature beats" xsd:string property_value: alternative:term "Paroxysmal ventricular fibrillation" xsd:string property_value: alternative:term "Syncopal paroxysmal tachycardia" xsd:string property_value: alternative:term "Syncopal tachyarythmia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death." xsd:string [Term] id: Orphanet:328666 name: glucosidase, beta (bile acid) 2 xref: ENSEMBL:ENSG00000070610 xref: GENATLAS:GBA2 xref: HGNC:18986 xref: OMIM:609471 xref: REACTOME:Q9HCG7 xref: UNIPROTKB/SWISSPROT:Q9HCG7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:320391 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 46 relationship: Orphanet:317343 Orphanet:352641 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive cerebellar ataxia with late-onset spasticity property_value: alternative:term "AD035" xsd:string property_value: alternative:term "Bile acid beta-glucosidase" xsd:string property_value: alternative:term "DKFZp762K054" xsd:string property_value: alternative:term "KIAA1605" xsd:string property_value: alternative:term "Non-lysosomal glucosylceramidase" xsd:string property_value: alternative:term "spastic paraplegia 46 (autosomal recessive)" xsd:string property_value: alternative:term "SPG46" xsd:string property_value: symbol "GBA2" xsd:string [Term] id: Orphanet:328676 name: leucine-rich repeats and immunoglobulin-like domains 2 xref: ENSEMBL:ENSG00000198799 xref: GENATLAS:LRIG2 xref: HGNC:20889 xref: OMIM:608869 xref: UNIPROTKB/SWISSPROT:O94898 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2704 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ochoa syndrome property_value: alternative:term "KIAA0806" xsd:string property_value: symbol "LRIG2" xsd:string [Term] id: Orphanet:328691 name: aldehyde dehydrogenase 1 family, member A3 xref: ENSEMBL:ENSG00000184254 xref: GENATLAS:ALDH1A3 xref: HGNC:409 xref: OMIM:600463 xref: UNIPROTKB/SWISSPROT:P47895 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2542 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated anophthalmia - microphthalmia property_value: alternative:term "ALDH6" xsd:string property_value: alternative:term "RALDH3" xsd:string property_value: alternative:term "Retinaldehyde dehydrogenase 3" xsd:string property_value: symbol "ALDH1A3" xsd:string [Term] id: Orphanet:328699 name: solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 xref: ENSEMBL:ENSG00000140090 xref: GENATLAS:SLC24A4 xref: HGNC:10978 xref: OMIM:609840 xref: REACTOME:Q8NFF2 xref: UNIPROTKB/SWISSPROT:Q8NFF2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:100032 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypocalcified amelogenesis imperfecta property_value: alternative:term "NCKX4" xsd:string property_value: symbol "SLC24A4" xsd:string [Term] id: Orphanet:3287 name: Takayasu arteritis xref: ICD10:M31.4 xref: MEDDRA:10043097 xref: MESH:D013625 xref: OMIM:207600 xref: SNOMED CT:239937004 xref: SNOMED CT:359789008 xref: UMLS:C0039263 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:156140 ! Predominantly large-vessel vasculitis relationship: part_of Orphanet:68362 ! Rare vascular disease relationship: part_of Orphanet:93551 ! Secondary glomerular disease [Term] id: Orphanet:328743 name: spectrin repeat containing, nuclear envelope family member 4 xref: ENSEMBL:ENSG00000181392 xref: GENATLAS:C19orf46 xref: HGNC:26703 xref: OMIM:615535 xref: UNIPROTKB/SWISSPROT:Q8N205 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "C19orf46" xsd:string property_value: alternative:term "Chromosome 19 open reading frame 46" xsd:string property_value: alternative:term "FLJ36445" xsd:string property_value: alternative:term "Nesp4" xsd:string property_value: alternative:term "Nesprin-4" xsd:string property_value: symbol "SYNE4" xsd:string [Term] id: Orphanet:328770 name: ubiquinol-cytochrome c reductase core protein II xref: ENSEMBL:ENSG00000140740 xref: GENATLAS:UQCRC2 xref: HGNC:12586 xref: OMIM:191329 xref: REACTOME:P22695 xref: UNIPROTKB/SWISSPROT:P22695 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1460 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated CoQ-cytochrome C reductase deficiency property_value: alternative:term "QCR2" xsd:string property_value: alternative:term "UQCR2" xsd:string property_value: symbol "UQCRC2" xsd:string [Term] id: Orphanet:328840 name: myopalladin xref: ENSEMBL:ENSG00000138347 xref: GENATLAS:MYPN xref: HGNC:23246 xref: OMIM:608517 xref: UNIPROTKB/SWISSPROT:Q86TC9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317343 Orphanet:75249 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated restrictive cardiomyopathy property_value: alternative:term "MYOP" xsd:string property_value: alternative:term "Sarcomeric protein myopalladin, 145 kDa" xsd:string property_value: symbol "MYPN" xsd:string [Term] id: Orphanet:3289 name: Taurodontism xref: ICD10:K00.2 xref: MESH:C536946 xref: OMIM:272700 xref: SNOMED CT:51744007 xref: UMLS:C0266039 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:164001 ! Rare odontal or periodontal disorder property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down's syndrome, amelogenesis imperfecta, and Klinefelter syndrome (see these terms)." xsd:string [Term] id: Orphanet:328915 name: integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) xref: ENSEMBL:ENSG00000164171 xref: GENATLAS:ITGA2 xref: HGNC:6137 xref: OMIM:192974 xref: REACTOME:P17301 xref: UNIPROTKB/SWISSPROT:P17301 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:853 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Fetal and neonatal alloimmune thrombocytopenia property_value: alternative:term "CD49B" xsd:string property_value: symbol "ITGA2" xsd:string [Term] id: Orphanet:328918 name: CD109 molecule xref: ENSEMBL:ENSG00000156535 xref: GENATLAS:CD109 xref: HGNC:21685 xref: OMIM:608859 xref: UNIPROTKB/SWISSPROT:Q6YHK3 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:853 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Fetal and neonatal alloimmune thrombocytopenia property_value: alternative:term "CD109 antigen (Gov platelet alloantigens)" xsd:string property_value: alternative:term "CPAMD7" xsd:string property_value: alternative:term "DKFZp762L1111" xsd:string property_value: alternative:term "FLJ38569" xsd:string property_value: symbol "CD109" xsd:string [Term] id: Orphanet:328924 name: sodium channel, voltage-gated, type XI, alpha subunit xref: ENSEMBL:ENSG00000168356 xref: GENATLAS:SCN11A xref: HGNC:10583 xref: IUPHAR:586 xref: OMIM:604385 xref: UNIPROTKB/SWISSPROT:Q9UI33 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:46348 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Paroxysmal extreme pain disorder relationship: Orphanet:327767 Orphanet:88642 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Channelopathy-associated congenital insensitivity to pain relationship: Orphanet:327767 Orphanet:90026 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Primary erythermalgia property_value: alternative:term "NaN" xsd:string property_value: alternative:term "Nav1.9" xsd:string property_value: alternative:term "SCN12A" xsd:string property_value: alternative:term "SNS-2" xsd:string property_value: alternative:term "Sodium channel, voltage-gated, type XI, alpha polypeptide" xsd:string property_value: alternative:term "Sodium channel, voltage-gated, type XII, alpha" xsd:string property_value: symbol "SCN11A" xsd:string [Term] id: Orphanet:328932 name: cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) xref: ENSEMBL:ENSG00000129355 xref: GENATLAS:CDKN2D xref: HGNC:1790 xref: OMIM:600927 xref: REACTOME:P55273 xref: UNIPROTKB/SWISSPROT:P55273 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:618 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial melanoma property_value: alternative:term "INK4D" xsd:string property_value: alternative:term "p19" xsd:string property_value: symbol "CDKN2D" xsd:string [Term] id: Orphanet:328936 name: mitochondrially encoded tRNA threonine xref: ENSEMBL:ENSG00000210195 xref: GENATLAS:MT-TT xref: HGNC:7499 xref: OMIM:590090 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:254857 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Lethal infantile mitochondrial myopathy property_value: alternative:term "MTTT" xsd:string property_value: alternative:term "tRNA threonine" xsd:string property_value: alternative:term "trnT" xsd:string property_value: symbol "MT-TT" xsd:string [Term] id: Orphanet:329 name: Congenital factor XI deficiency xref: ICD10:D68.1 xref: OMIM:612416 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:68334 ! Rare hemorrhagic disorder due to a constitutional coagulation factors defect property_value: alternative:term "Hemophilia C" xsd:string property_value: alternative:term "Plasma thromboplastin antecedent deficiency" xsd:string property_value: alternative:term "PTA deficiency" xsd:string property_value: alternative:term "Rosenthal factor deficiency" xsd:string property_value: alternative:term "Rosenthal syndrome" xsd:string [Term] id: Orphanet:329062 name: calcium channel, voltage-dependent, alpha 2/delta subunit 2 xref: ENSEMBL:ENSG00000007402 xref: GENATLAS:CACNA2D2 xref: HGNC:1400 xref: OMIM:607082 xref: REACTOME:Q9NY47 xref: UNIPROTKB/SWISSPROT:Q9NY47 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1934 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early infantile epileptic encephalopathy property_value: alternative:term "Gene 26" xsd:string property_value: alternative:term "KIAA0558" xsd:string property_value: symbol "CACNA2D2" xsd:string [Term] id: Orphanet:3291 name: Teebi-Shaltout syndrome xref: MESH:C536950 xref: OMIM:272950 xref: UMLS:C1848912 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:93453 ! Dysostosis with predominant craniofacial involvement [Term] id: Orphanet:329178 name: Congenital muscular dystrophy with intellectual disability and severe epilepsy xref: ICD10:E77.8 xref: OMIM:615042 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309526 ! Disorder of multiple glycosylation relationship: part_of Orphanet:370953 ! Congenital muscular dystrophy due to dystroglycanopathy relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature relationship: part_of Orphanet:371157 ! Congenital disorder of glycosylation with hepatic involvement property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type Iu" xsd:string property_value: alternative:term "CDG syndrome type Iu" xsd:string property_value: alternative:term "CDG-Iu" xsd:string property_value: alternative:term "CDG1U" xsd:string property_value: alternative:term "CMD with intellectual disability and severe epilepsy" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type Iu" xsd:string property_value: alternative:term "DPM2-CDG" xsd:string [Term] id: Orphanet:329191 name: Tall stature - scoliosis - macrodactyly of the great toes is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93454 ! Dysostosis with predominant vertebral and costal involvement property_value: alternative:term "Tall stature - scoliosis - macrodactyly of the halluces" xsd:string [Term] id: Orphanet:329195 name: Developmental delay with autism spectrum disorder and gait instability xref: OMIM:615516 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:180772 ! Rare disease with autism property_value: alternative:term "Developmental delay with ASD and gait instability" xsd:string [Term] id: Orphanet:3292 name: Tel Hashomer camptodactyly syndrome xref: ICD10:Q74.0 xref: MESH:C536953 xref: OMIM:211960 xref: UMLS:C1859356 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206634 ! Genetic skeletal muscle disease [Term] id: Orphanet:329211 name: Autosomal dominant neovascular inflammatory vitreoretinopathy xref: OMIM:193235 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98670 ! Vitreoretinal degeneration property_value: alternative:term "ADNIV" xsd:string [Term] id: Orphanet:329217 name: Cerebral sinovenous thrombosis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease property_value: alternative:term "CSVT" xsd:string [Term] id: Orphanet:329224 name: Intellectual deficit - craniofacial dysmorphism - cryptorchidism xref: OMIM:615009 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:329228 name: Microcephalic primordial dwarfism due to ZNF335 deficiency xref: ICD10:Q87.1 xref: OMIM:615095 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:324761 ! Microcephalic primordial dwarfism property_value: alternative:term "Microcephalic primordial dwarfism, Walsh type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur." xsd:string [Term] id: Orphanet:329235 name: X-linked central congenital hypothyroidism with late-onset testicular enlargement xref: ICD10:E03.1 xref: OMIM:300888 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:226298 ! Central congenital hypothyroidism property_value: alternative:term "X-linked central congenital hypothyroidism with late-onset macroorchidism" xsd:string [Term] id: Orphanet:329242 name: Congenital chronic diarrhea with protein-losing enteropathy xref: ICD10:P78.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:363300 ! Genetic intractable diarrhea of infancy relationship: part_of Orphanet:73014 ! Intractable diarrhea of infancy property_value: alternative:term "Congenital chronic diarrhea with exudative enteropathy" xsd:string [Term] id: Orphanet:329249 name: Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency xref: ICD10:E66.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98267 ! Nonsyndromic obesity [Term] id: Orphanet:329252 name: Spondylocostal dysostosis - hypospadias - intellectual deficit is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:93454 ! Dysostosis with predominant vertebral and costal involvement [Term] id: Orphanet:329255 name: Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency xref: OMIM:615057 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:293642 ! Blepharophimosis-intellectual deficit syndrome [Term] id: Orphanet:329258 name: Autosomal dominant Charcot-Marie-Tooth disease type 2Q xref: ICD10:G60.0 xref: OMIM:615025 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:64746 ! Autosomal dominant Charcot-Marie-Tooth disease type 2 property_value: alternative:term "CMT2Q" xsd:string [Term] id: Orphanet:329284 name: Beta-propeller protein-associated neurodegeneration xref: ICD10:G23.0 xref: OMIM:300894 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:385 ! Neurodegeneration with brain iron accumulation property_value: alternative:term "BPAN" xsd:string property_value: alternative:term "NBIA4" xsd:string property_value: alternative:term "Neurodegeneration with brain iron accumulation type 4" xsd:string property_value: alternative:term "SENDA" xsd:string property_value: alternative:term "Static encephalopathy of childhood with neurdegeneration in adulthood" xsd:string [Term] id: Orphanet:3293 name: Telecanthus - hypertelorism - strabismus - pes cavus is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit [Term] id: Orphanet:329303 name: PLA2G6-associated neurodegeneration xref: ICD10:G23.0 is_a: Orphanet:352306 ! Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement is_a: Orphanet:385 ! Neurodegeneration with brain iron accumulation property_value: alternative:term "PLAN" xsd:string [Term] id: Orphanet:329308 name: Fatty acid hydroxylase-associated neurodegeneration xref: ICD10:G23.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:352306 ! Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement relationship: part_of Orphanet:385 ! Neurodegeneration with brain iron accumulation relationship: part_of Orphanet:98677 ! Autosomal recessive syndromic optic atrophy property_value: alternative:term "FAHN" xsd:string [Term] id: Orphanet:329314 name: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency xref: ICD10:G71.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206966 ! Mitochondrial myopathy relationship: part_of Orphanet:254807 ! Multiple mitochondrial DNA deletion syndrome property_value: alternative:term "Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency" xsd:string [Term] id: Orphanet:329319 name: Hereditary thrombocytosis with transverse limb defect xref: ICD10:Q87.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:248401 ! Rare thrombotic disorder due to a constitutional platelet anomaly relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects property_value: alternative:term "Familial thrombocytosis with transverse limb defect" xsd:string [Term] id: Orphanet:329324 name: Inverse Klippel-Trénaunay syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:211266 ! Arteriovenous malformation relationship: part_of Orphanet:235832 ! Congenital vascular bone syndrome property_value: alternative:term "Cutaneous hemangioma with muscle or bone atrophy" xsd:string [Term] id: Orphanet:329329 name: Autosomal recessive frontotemporal pachygyria xref: ICD10:Q04.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:163209 ! Nonsyndromic cerebral malformation due to abnormal neuronal migration [Term] id: Orphanet:329332 name: Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome xref: OMIM:614407 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:269528 ! Syndrome with microcephaly as major feature property_value: alternative:term "Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome" xsd:string [Term] id: Orphanet:329336 name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy xref: ICD10:G71.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206966 ! Mitochondrial myopathy relationship: part_of Orphanet:254767 ! Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Adult-onset CPEO with mitochondrial myopathy" xsd:string [Term] id: Orphanet:329341 name: Limbic encephalitis with DPP6 antibodies is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:117569 ! Rare intestinal disease relationship: part_of Orphanet:163918 ! Non-paraneoplastic limbic encephalitis property_value: alternative:term "Limbic encephalitis with dipeptidyl-peptidase 6 antibodies" xsd:string [Term] id: Orphanet:3294 name: Extensor tendons of finger anomalies xref: OMIM:187390 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:109009 ! Syndrome with limb malformations as a major feature property_value: alternative:term "Hapnes-Boman-Skeie syndrome" xsd:string [Term] id: Orphanet:329457 name: Distal arthrogryposis type 5D xref: OMIM:615065 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:97120 ! Distal arthrogryposis property_value: alternative:term "DA5D" xsd:string property_value: alternative:term "Distal arthrogryposis type 5 without ophthalmoparesis" xsd:string property_value: alternative:term "Distal arthrogryposis type 5 without ophthalmoplegia" xsd:string [Term] id: Orphanet:329466 name: Autosomal dominant focal dystonia, DYT25 xref: ICD10:G24.1 xref: OMIM:615073 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:1866 ! Focal, segmental or multifocal dystonia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia (see this term), characterized by cervical, laryngeal and hand-forearm dystonia (see these terms)." xsd:string [Term] id: Orphanet:329469 name: Acute megakaryoblastic leukemia without Down syndrome xref: ICD10:C94.2 is_a: Orphanet:518 ! Acute megakaryoblastic leukemia relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Non-DS-AMKL" xsd:string [Term] id: Orphanet:329475 name: Spastic paraplegia - Paget disease of bone is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100979 ! Autosomal dominant complex spastic paraplegia relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components [Term] id: Orphanet:329478 name: Adult-onset distal myopathy due to VCP mutation xref: ICD10:G71.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206650 ! Autosomal dominant distal myopathy [Term] id: Orphanet:329481 name: Lipoprotein glomerulopathy xref: OMIM:611771 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102373 ! Primary glomerular disease relationship: part_of Orphanet:181437 ! Rare syndromic dyslipidemia property_value: alternative:term "LPG" xsd:string [Term] id: Orphanet:32960 name: TRAPS syndrome xref: ICD10:E85.0 xref: OMIM:142680 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:290839 ! Autoinflammatory syndrome with immune deficiency relationship: part_of Orphanet:290842 ! Autoinflammatory syndrome with skin involvement relationship: part_of Orphanet:324924 ! Hereditary periodic fever syndrome property_value: alternative:term "Autosomal dominant periodic fever" xsd:string property_value: alternative:term "Familial hibernian fever" xsd:string property_value: alternative:term "TNF receptor 1 associated periodic syndrome" xsd:string property_value: alternative:term "Tumor necrosis factor receptor 1 associated periodic syndrome" xsd:string [Term] id: Orphanet:329802 name: 5p13 microduplication syndrome xref: ICD10:Q92.3 xref: OMIM:613174 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:262725 ! Partial trisomy/tetrasomy of the short arm of chromosome 5 property_value: alternative:term "Dup(5)(p13)" xsd:string property_value: alternative:term "Trisomy 5p13" xsd:string [Term] id: Orphanet:329813 name: Mosaic genome-wide paternal uniparental disomy is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98152 ! Autosomal uniparental disomy property_value: alternative:term "Androgenetic/biparental mosaicism" xsd:string property_value: alternative:term "Genome-wide paternal uniparental disomy mosaicism" xsd:string property_value: alternative:term "Mosaic genome-wide paternal UPD" xsd:string [Term] id: Orphanet:329874 name: Idiopathic giant cell myocarditis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:167848 ! Cardiomyopathy property_value: alternative:term "IGCM" xsd:string [Term] id: Orphanet:329883 name: Non-hypoproteinemic hypertrophic gastropathy is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101936 ! Rare gastro-esophageal disease property_value: alternative:term "Hypertrophic gastropathy without hypoproteinemia" xsd:string [Term] id: Orphanet:329888 name: Juvenile idiopathic inflammatory myopathy is_a: Orphanet:98482 ! Idiopathic inflammatory myopathy property_value: alternative:term "JIIM" xsd:string [Term] id: Orphanet:329894 name: Juvenile overlap myositis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:329888 ! Juvenile idiopathic inflammatory myopathy [Term] id: Orphanet:3299 name: Tetanus xref: ICD10:A33 xref: ICD10:A34 xref: ICD10:A35 xref: MEDDRA:10043376 xref: MESH:D013742 xref: SNOMED CT:276202003 xref: SNOMED CT:76902006 xref: UMLS:C0039614 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease relationship: part_of Orphanet:98010 ! Infectious disease of the nervous system [Term] id: Orphanet:329903 name: Immunoglobulin-mediated membranoproliferative glomerulonephritis xref: OMIM:615008 xref: SNOMED CT:75888001 xref: UMLS:C0268742 xref: UMLS:C1720821 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:54370 ! Primary membranoproliferative glomerulonephritis property_value: alternative:term "Ig-mediated membranoproliferative glomerulonephritis" xsd:string property_value: alternative:term "Ig-mediated MPGN" xsd:string property_value: alternative:term "Immunoglobulin-mediated MPGN" xsd:string [Term] id: Orphanet:329918 name: Non-immunoglobulin-mediated membranoproliferative glomerulonephritis xref: OMIM:609814 xref: OMIM:614809 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:54370 ! Primary membranoproliferative glomerulonephritis property_value: alternative:term "C3 glomerulopathy" xsd:string property_value: alternative:term "Non-Ig-mediated membranoproliferative glomerulonephritis" xsd:string property_value: alternative:term "Non-Ig-mediated MPGN" xsd:string property_value: alternative:term "Non-immunoglobulin-mediated MPGN" xsd:string [Term] id: Orphanet:329931 name: C3 glomerulonephritis xref: OMIM:614809 is_a: Orphanet:329918 ! Non-immunoglobulin-mediated membranoproliferative glomerulonephritis [Term] id: Orphanet:329942 name: Transient neonatal multiple acyl-CoA dehydrogenase deficiency xref: ICD10:E71.3 xref: OMIM:615026 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309833 ! Disorder of other vitamins and cofactors metabolism and transport property_value: alternative:term "Maternal riboflavin deficiency" xsd:string property_value: alternative:term "Transient neonatal glutaric aciduria type 2" xsd:string property_value: alternative:term "Transient neonatal MAD deficiency" xsd:string property_value: alternative:term "Transient neonatal MADD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " gene (17p13)." xsd:string [Term] id: Orphanet:329967 name: Intermittent hydrarthrosis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:182231 ! Rare rheumatologic disease relationship: part_of Orphanet:271870 ! Rare genetic systemic or rheumatologic disease [Term] id: Orphanet:329971 name: Generalized juvenile polyposis/juvenile polyposis coli xref: ICD10:D12.6 xref: OMIM:174900 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2929 ! Juvenile polyposis syndrome [Term] id: Orphanet:329977 name: Classic endocrine tumor of the appendix is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:100079 ! Endocrine tumor of the appendix property_value: alternative:term "Classic appendiceal endocrine tumor" xsd:string property_value: alternative:term "Classic appendix endocrine tumor" xsd:string [Term] id: Orphanet:329984 name: Goblet cell carcinoma is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:100079 ! Endocrine tumor of the appendix property_value: alternative:term "GCC" xsd:string property_value: alternative:term "Goblet cell adenocarcinoid" xsd:string property_value: alternative:term "Goblet cell carcinoid" xsd:string property_value: alternative:term "Goblet cell tumor" xsd:string [Term] id: Orphanet:33 name: Isovaleric acidemia xref: ICD10:E71.1 xref: MESH:C538167 xref: OMIM:243500 xref: SNOMED CT:87827003 xref: UMLS:C0268575 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:79163 ! Classic organic aciduria property_value: alternative:term "Isovaleric acid CoA dehydrogenase deficiency" xsd:string [Term] id: Orphanet:330 name: Congenital factor XII deficiency xref: ICD10:D68.2 xref: OMIM:234000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:68334 ! Rare hemorrhagic disorder due to a constitutional coagulation factors defect property_value: alternative:term "Congenital Hageman factor deficiency" xsd:string [Term] id: Orphanet:330001 name: Senile systemic amyloidosis xref: ICD10:E85.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:69 ! Amyloidosis [Term] id: Orphanet:33001 name: Lymphedema - distichiasis xref: ICD10:Q82.0 xref: MESH:C537710 xref: OMIM:153400 xref: SNOMED CT:8634009 xref: UMLS:C0265345 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:89832 ! Syndromic lymphedema relationship: part_of Orphanet:98571 ! Secondary ectropion relationship: part_of Orphanet:98600 ! Eyebrow/eyelashes distichiasis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations." xsd:string [Term] id: Orphanet:330015 name: Lead poisoning xref: ICD10:T56.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:108999 ! Rare intoxication property_value: alternative:term "Lead intoxication" xsd:string property_value: alternative:term "Saturnism" xsd:string [Term] id: Orphanet:330021 name: Mercury poisoning xref: ICD10:T56.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:108999 ! Rare intoxication property_value: alternative:term "Hydrargyria" xsd:string property_value: alternative:term "Mercurialism" xsd:string property_value: alternative:term "Mercury intoxication" xsd:string [Term] id: Orphanet:330029 name: Hypotrichosis-deafness syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:308166 ! Erythrokeratoderma variabilis progressiva relationship: part_of Orphanet:79364 ! Alopecia relationship: part_of Orphanet:79370 ! Syndromic nail anomaly relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:330032 name: Hemoglobin Lepore - beta-thalassemia xref: ICD10:D56.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:231230 ! Beta-thalassemia associated with another hemoglobin anomaly property_value: alternative:term "HbLepore - beta-thalassemia" xsd:string property_value: alternative:term "Lepore - beta-thalassemia" xsd:string [Term] id: Orphanet:330041 name: Autosomal dominant methemoglobinemia xref: ICD10:D74.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:621 ! Hereditary methemoglobinemia property_value: alternative:term "Hemoglobin M disease" xsd:string property_value: alternative:term "Hereditary methemoglobinemia due to hemoglobin mutation" xsd:string property_value: alternative:term "M hemoglobinopathy" xsd:string [Term] id: Orphanet:330050 name: Lethal encephalopathy due to mitochondrial and peroxisomal fission defect xref: OMIM:614388 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254822 ! Mitochondrial oxidative phosphorylation disorder with no known mechanism relationship: part_of Orphanet:68385 ! Neurometabolic disease [Term] id: Orphanet:330054 name: Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay xref: ICD10:G71.3 xref: OMIM:613076 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206966 ! Mitochondrial myopathy relationship: part_of Orphanet:2443 ! Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98641 ! Syndromic cataract property_value: alternative:term "Congenital cataract - progressive muscular hypotonia - deafness - developmental delay" xsd:string [Term] id: Orphanet:330058 name: Hydroa vacciniforme xref: ICD10:L56.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:79390 ! Rare photodermatosis [Term] id: Orphanet:330061 name: Actinic prurigo xref: ICD10:L56.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79390 ! Rare photodermatosis property_value: alternative:term "Familial polymorphous light eruption of American Indians" xsd:string property_value: alternative:term "Hereditary polymorphous light eruption of American Indians" xsd:string property_value: alternative:term "Hutchinson summer prurigo" xsd:string property_value: alternative:term "Hydroa aestivale" xsd:string [Term] id: Orphanet:330064 name: Chronic actinic dermatitis xref: ICD10:L57.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:79390 ! Rare photodermatosis [Term] id: Orphanet:3301 name: Tetraamelia - multiple malformations xref: ICD10:Q87.8 xref: MESH:C536500 xref: OMIM:273395 xref: UMLS:C2931218 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Zimmer phocomelia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent." xsd:string [Term] id: Orphanet:330197 name: Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit is_a: Orphanet:183533 ! Genetic multiple congenital anomalies/dysmorphic syndrome property_value: alternative:term "Genetic MCA/variable MR" xsd:string property_value: alternative:term "Genetic multiple congenital anomalies - variable intellectual deficit with or without dysmorphism" xsd:string [Term] id: Orphanet:330206 name: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit is_a: Orphanet:183533 ! Genetic multiple congenital anomalies/dysmorphic syndrome property_value: alternative:term "Genetic MCA" xsd:string property_value: alternative:term "Genetic multiple congenital anomalies without intellectual deficit (with or without dysmorphism)" xsd:string [Term] id: Orphanet:330232 name: immunoglobulin superfamily, member 1 xref: ENSEMBL:ENSG00000147255 xref: GENATLAS:IGSF1 xref: HGNC:5948 xref: OMIM:300137 xref: UNIPROTKB/SWISSPROT:Q8N6C5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:329235 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked central congenital hypothyroidism with late-onset testicular enlargement property_value: alternative:term "IGCD1" xsd:string property_value: alternative:term "IGDC1" xsd:string property_value: alternative:term "INHBP" xsd:string property_value: alternative:term "KIAA0364" xsd:string property_value: alternative:term "MGC75490" xsd:string property_value: alternative:term "PGSF2" xsd:string property_value: symbol "IGSF1" xsd:string [Term] id: Orphanet:3303 name: Tetralogy of Fallot xref: ICD10:Q21.3 xref: MEDDRA:10016193 xref: MESH:D013771 xref: OMIM:187500 xref: SNOMED CT:86299006 xref: UMLS:C0039685 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:2445 ! Conotruncal heart malformations [Term] id: Orphanet:330340 name: serum amyloid A1 xref: ENSEMBL:ENSG00000173432 xref: GENATLAS:SAA1 xref: HGNC:10513 xref: OMIM:104750 xref: REACTOME:P0DJI8 xref: UNIPROTKB/SWISSPROT:P0DJI8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:85445 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Secondary amyloidosis property_value: alternative:term "PIG4" xsd:string property_value: alternative:term "SAA" xsd:string property_value: alternative:term "TP53I4" xsd:string property_value: symbol "SAA1" xsd:string [Term] id: Orphanet:3304 name: Fallot complex - intellectual deficit - growth delay xref: ICD10:Q87.8 xref: OMIM:601127 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Bindewald-Ulmer-Müller syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay." xsd:string [Term] id: Orphanet:3305 name: Tetraploidy xref: ICD10:Q92.7 xref: MESH:D057891 xref: SNOMED CT:62749002 xref: UMLS:C0333694 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:96321 ! Polyploidy [Term] id: Orphanet:3306 name: Duplication/inversion 15q11 xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:166469 ! Chromosomal anomaly with epilepsy as a major feature relationship: part_of Orphanet:180772 ! Rare disease with autism relationship: part_of Orphanet:263708 ! Complex chromosomal rearrangement property_value: alternative:term "idic(15)" xsd:string property_value: alternative:term "Inv dup(15)" xsd:string property_value: alternative:term "Isodicentric 15 chromosome" xsd:string property_value: alternative:term "Non-distal tetrasomy 15q" xsd:string property_value: alternative:term "Non-telomeric tetrasomy 15q" xsd:string [Term] id: Orphanet:330631 name: beta-1,3-N-acetylgalactosaminyltransferase 2 xref: ENSEMBL:ENSG00000162885 xref: GENATLAS:B3GALNT2 xref: HGNC:28596 xref: OMIM:610194 xref: UNIPROTKB/SWISSPROT:Q8NCR0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:588 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Muscle-eye-brain disease relationship: Orphanet:317343 Orphanet:899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Walker-Warburg syndrome property_value: alternative:term "MGC39558" xsd:string property_value: alternative:term "UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2" xsd:string property_value: symbol "B3GALNT2" xsd:string [Term] id: Orphanet:330666 name: actinin, alpha 1 xref: ENSEMBL:ENSG00000072110 xref: GENATLAS:ACTN1 xref: HGNC:163 xref: OMIM:102575 xref: REACTOME:P12814 xref: UNIPROTKB/SWISSPROT:P12814 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:140957 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal dominant macrothrombocytopenia property_value: symbol "ACTN1" xsd:string [Term] id: Orphanet:33067 name: Metaphyseal chondrodysplasia, Jansen type xref: ICD10:Q78.5 xref: MESH:C537564 xref: OMIM:156400 xref: SNOMED CT:24629003 xref: UMLS:C0265295 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93430 ! Multiple metaphyseal dysplasia [Term] id: Orphanet:330673 name: regulator of telomere elongation helicase 1 xref: ENSEMBL:ENSG00000258366 xref: GENATLAS:RTEL1 xref: HGNC:15888 xref: OMIM:608833 xref: REACTOME:Q9NZ71 xref: UNIPROTKB/SWISSPROT:Q9NZ71 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1775 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dyskeratosis congenita relationship: Orphanet:317343 Orphanet:3322 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hoyeraal-Hreidarsson syndrome property_value: alternative:term "bK3184A7.3" xsd:string property_value: alternative:term "C20orf41" xsd:string property_value: alternative:term "Chromosome 20 open reading frame 41" xsd:string property_value: alternative:term "DKFZP434C013" xsd:string property_value: alternative:term "KIAA1088" xsd:string property_value: alternative:term "NHL" xsd:string property_value: alternative:term "RTEL" xsd:string property_value: symbol "RTEL1" xsd:string [Term] id: Orphanet:330683 name: purinergic receptor P2X, ligand-gated ion channel, 2 xref: ENSEMBL:ENSG00000187848 xref: GENATLAS:P2RX2 xref: HGNC:15459 xref: IUPHAR:479 xref: OMIM:600844 xref: UNIPROTKB/SWISSPROT:Q9UBL9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90635 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic sensorineural deafness type DFNA property_value: alternative:term "Deafness, autosomal dominant 41" xsd:string property_value: alternative:term "DFNA41" xsd:string property_value: alternative:term "P2X2" xsd:string property_value: symbol "P2RX2" xsd:string [Term] id: Orphanet:33069 name: Dravet syndrome xref: ICD10:G40.4 xref: OMIM:607208 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182083 ! Channelopathy with epilepsy relationship: part_of Orphanet:98258 ! Infantile epilepsy syndrome property_value: alternative:term "Severe myoclonic epilepsy of infancy" xsd:string property_value: alternative:term "SMEI" xsd:string [Term] id: Orphanet:3307 name: Tetrasomy 18p xref: ICD10:Q99.8 xref: OMIM:614290 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:262812 ! Partial trisomy/tetrasomy of the short arm of chromosome 18 property_value: alternative:term "Isochromosome 18p" xsd:string [Term] id: Orphanet:330703 name: transcription factor 12 xref: ENSEMBL:ENSG00000140262 xref: GENATLAS:TCF12 xref: HGNC:11623 xref: OMIM:600480 xref: REACTOME:Q99081 xref: UNIPROTKB/SWISSPROT:Q99081 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:35098 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated plagiocephaly relationship: Orphanet:317343 Orphanet:35099 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated brachycephaly relationship: Orphanet:317348 Orphanet:209916 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Extraskeletal myxoid chondrosarcoma property_value: alternative:term "bHLHb20" xsd:string property_value: alternative:term "HEB" xsd:string property_value: alternative:term "Helix-loop-helix transcription factor 4" xsd:string property_value: alternative:term "HsT17266" xsd:string property_value: alternative:term "HTF4" xsd:string property_value: symbol "TCF12" xsd:string [Term] id: Orphanet:330717 name: dynein regulatory complex subunit 1 homolog (Chlamydomonas) xref: ENSEMBL:ENSG00000157856 xref: GENATLAS:C2orf39 xref: HGNC:24245 xref: OMIM:615288 xref: UNIPROTKB/SWISSPROT:Q96MC2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "C2orf39" xsd:string property_value: alternative:term "CCDC164" xsd:string property_value: alternative:term "Chromosome 2 open reading frame 39" xsd:string property_value: alternative:term "Coiled-coil domain containing 164" xsd:string property_value: alternative:term "FLJ32660" xsd:string property_value: alternative:term "MGC16372" xsd:string property_value: symbol "DRC1" xsd:string [Term] id: Orphanet:330730 name: mucin 1, cell surface associated xref: ENSEMBL:ENSG00000185499 xref: GENATLAS:MUC1 xref: HGNC:7508 xref: OMIM:158340 xref: REACTOME:P15941 xref: UNIPROTKB/SWISSPROT:P15941 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:34149 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant medullary cystic kidney disease with or without hyperuricemia property_value: alternative:term "CD227" xsd:string property_value: alternative:term "Mucin 1, transmembrane" xsd:string property_value: alternative:term "PEM" xsd:string property_value: alternative:term "PUM" xsd:string property_value: symbol "MUC1" xsd:string [Term] id: Orphanet:330740 name: ALG14, UDP-N-acetylglucosaminyltransferase subunit xref: ENSEMBL:ENSG00000172339 xref: GENATLAS:ALG14 xref: HGNC:28287 xref: OMIM:612866 xref: REACTOME:Q96F25 xref: UNIPROTKB/SWISSPROT:Q96F25 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:353327 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital myasthenic syndromes with glycosylation defect property_value: alternative:term "asparagine-linked glycosylation 14 homolog" xsd:string property_value: alternative:term "asparagine-linked glycosylation 14 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "asparagine-linked glycosylation 14 homolog (yeast)" xsd:string property_value: alternative:term "MGC19780" xsd:string property_value: symbol "ALG14" xsd:string [Term] id: Orphanet:330748 name: nucleic acid binding protein 1 xref: ENSEMBL:ENSG00000173559 xref: GENATLAS:OBFC2A xref: HGNC:26232 xref: OMIM:612103 xref: UNIPROTKB/SWISSPROT:Q96AH0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:520 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute promyelocytic leukemia property_value: alternative:term "DKFZp667M1322" xsd:string property_value: alternative:term "FLJ13624" xsd:string property_value: alternative:term "FLJ22833" xsd:string property_value: alternative:term "hSSB2" xsd:string property_value: alternative:term "MGC111163" xsd:string property_value: alternative:term "OBFC2A" xsd:string property_value: alternative:term "Oligonucleotide/oligosaccharide-binding fold containing 2A" xsd:string property_value: alternative:term "Sensor of single-strand DNA complex subunit B2" xsd:string property_value: alternative:term "Single-stranded DNA-binding protein 2" xsd:string property_value: alternative:term "SOSS-B2" xsd:string property_value: alternative:term "SSB2" xsd:string property_value: symbol "NABP1" xsd:string [Term] id: Orphanet:330759 name: calmodulin 2 (phosphorylase kinase, delta) xref: ENSEMBL:ENSG00000143933 xref: GENATLAS:CALM2 xref: HGNC:1445 xref: OMIM:114182 xref: REACTOME:P62158 xref: UNIPROTKB/SWISSPROT:P62158 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:768 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial long QT syndrome property_value: alternative:term "CAMII" xsd:string property_value: alternative:term "PHKD" xsd:string property_value: alternative:term "Prepro-calmodulin 2" xsd:string property_value: symbol "CALM2" xsd:string [Term] id: Orphanet:330772 name: transmembrane protein 38B xref: ENSEMBL:ENSG00000095209 xref: HGNC:25535 xref: OMIM:611236 xref: UNIPROTKB/SWISSPROT:Q9NVV0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:216820 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 4 property_value: alternative:term "bA219P18.1" xsd:string property_value: alternative:term "C9orf87" xsd:string property_value: alternative:term "Chromosome 9 open reading frame 87" xsd:string property_value: alternative:term "D4Ertd89e" xsd:string property_value: alternative:term "FLJ10493" xsd:string property_value: alternative:term "TRIC-B" xsd:string property_value: symbol "TMEM38B" xsd:string [Term] id: Orphanet:330780 name: diacylglycerol kinase, epsilon 64kDa xref: ENSEMBL:ENSG00000153933 xref: GENATLAS:DGKE xref: HGNC:2852 xref: OMIM:601440 xref: REACTOME:P52429 xref: UNIPROTKB/SWISSPROT:P52429 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:329903 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunoglobulin-mediated membranoproliferative glomerulonephritis relationship: Orphanet:317343 Orphanet:357008 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Atypical hemolytic uremic syndrome with DGKE deficiency property_value: alternative:term "DAGK6" xsd:string property_value: alternative:term "DGK" xsd:string property_value: alternative:term "diacylglycerol kinase, epsilon (64kD)" xsd:string property_value: symbol "DGKE" xsd:string [Term] id: Orphanet:330810 name: T cell receptor beta locus xref: GENATLAS:TRB@ xref: HGNC:12155 xref: UNIPROTKB/SWISSPROT:P04435 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:99861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor T-cell acute lymphoblastic leukemia property_value: alternative:term "T-cell antigen receptor, beta polypeptide, T-cell receptor, beta cluster" xsd:string property_value: alternative:term "TCRB" xsd:string property_value: alternative:term "TRB@" xsd:string property_value: symbol "TRB" xsd:string [Term] id: Orphanet:330881 name: T cell receptor alpha locus xref: GENATLAS:TRA@ xref: HGNC:12027 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:99861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor T-cell acute lymphoblastic leukemia property_value: alternative:term "TCRA" xsd:string property_value: alternative:term "TRA@" xsd:string property_value: symbol "TRA" xsd:string [Term] id: Orphanet:330897 name: T cell receptor delta locus xref: GENATLAS:TRD@ xref: HGNC:12252 xref: OMIM:186810 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:99861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor T-cell acute lymphoblastic leukemia property_value: alternative:term "TCRD" xsd:string property_value: alternative:term "TCRDV1" xsd:string property_value: alternative:term "TRD@" xsd:string property_value: symbol "TRD" xsd:string [Term] id: Orphanet:3309 name: Tetrasomy 5p xref: ICD10:Q99.8 is_a: Orphanet:1742 ! Trisomy 5p relationship: part_of Orphanet:262725 ! Partial trisomy/tetrasomy of the short arm of chromosome 5 property_value: alternative:term "Isochromosome 5p" xsd:string [Term] id: Orphanet:330902 name: T cell receptor gamma locus xref: GENATLAS:TRG@ xref: HGNC:12271 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:99861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor T-cell acute lymphoblastic leukemia property_value: alternative:term "T-cell antigen receptor, gamma polypeptide" xsd:string property_value: alternative:term "T-cell rearranging gene, gamma" xsd:string property_value: alternative:term "T-cell receptor, gamma cluster" xsd:string property_value: alternative:term "TCRG" xsd:string property_value: alternative:term "TRG@" xsd:string property_value: symbol "TRG" xsd:string [Term] id: Orphanet:330909 name: T-cell leukemia/lymphoma 1A xref: ENSEMBL:ENSG00000100721 xref: GENATLAS:TCL1A xref: HGNC:11648 xref: OMIM:186960 xref: UNIPROTKB/SWISSPROT:P56279 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:99861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor T-cell acute lymphoblastic leukemia property_value: alternative:term "TCL1" xsd:string property_value: symbol "TCL1A" xsd:string [Term] id: Orphanet:330912 name: T-cell leukemia homeobox 1 xref: ENSEMBL:ENSG00000107807 xref: GENATLAS:TLX1 xref: HGNC:5056 xref: OMIM:186770 xref: UNIPROTKB/SWISSPROT:P31314 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:99861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor T-cell acute lymphoblastic leukemia property_value: alternative:term "homeo box 11 (T-cell lymphoma 3-associated breakpoint)" xsd:string property_value: alternative:term "Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)" xsd:string property_value: alternative:term "HOX11" xsd:string property_value: alternative:term "T-cell leukemia, homeobox 1" xsd:string property_value: alternative:term "TCL3" xsd:string property_value: symbol "TLX1" xsd:string [Term] id: Orphanet:330918 name: T-cell leukemia homeobox 3 xref: ENSEMBL:ENSG00000164438 xref: GENATLAS:TLX3 xref: HGNC:13532 xref: OMIM:604640 xref: UNIPROTKB/SWISSPROT:O43711 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:99861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor T-cell acute lymphoblastic leukemia property_value: alternative:term "homeo box 11-like 2" xsd:string property_value: alternative:term "HOX11L2" xsd:string property_value: alternative:term "RNX" xsd:string property_value: alternative:term "T-cell leukemia, homeobox 3" xsd:string property_value: symbol "TLX3" xsd:string [Term] id: Orphanet:331 name: Congenital factor XIII deficiency xref: ICD10:D68.2 xref: OMIM:613225 xref: OMIM:613235 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68334 ! Rare hemorrhagic disorder due to a constitutional coagulation factors defect property_value: alternative:term "Fibrin-stabilizing factor deficiency" xsd:string [Term] id: Orphanet:3310 name: Tetrasomy 9p xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262767 ! Partial trisomy of the short arm of chromosome 9 property_value: alternative:term "Isochromosome 9p" xsd:string [Term] id: Orphanet:33108 name: Lethal multiple pterygium syndrome xref: ICD10:Q79.8 xref: MESH:C537378 xref: OMIM:253290 xref: SNOMED CT:60192008 xref: UMLS:C1854678 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:183472 ! Genetic dermis disorder relationship: part_of Orphanet:294060 ! Multiple pterygium syndrome property_value: alternative:term "Autosomal recessive lethal multiple pterygium syndrome" xsd:string property_value: alternative:term "LMPS" xsd:string [Term] id: Orphanet:33110 name: Autosomal agammaglobulinemia xref: ICD10:D80.0 xref: OMIM:601495 xref: OMIM:612692 xref: OMIM:613500 xref: OMIM:613501 xref: OMIM:613502 xref: OMIM:613506 xref: OMIM:615214 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:229717 ! Isolated agammaglobulinemia property_value: alternative:term "Agammaglobulinemia, non-Bruton type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea." xsd:string [Term] id: Orphanet:33111 name: Granulomatous slack skin xref: ICD10:C84.0 xref: SNOMED CT:277796003 xref: UMLS:C0376407 xref: UMLS:C0457002 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:178566 ! Mycosis fungoides and variants relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma [Term] id: Orphanet:331176 name: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency xref: ICD10:D70 xref: OMIM:612541 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:42738 ! Severe congenital neutropenia property_value: alternative:term "SCN4" xsd:string property_value: alternative:term "Severe congenital neutropenia - pulmonary hypertension - superficial venous angiectasis" xsd:string property_value: alternative:term "Severe congenital neutropenia 4" xsd:string [Term] id: Orphanet:331184 name: Constitutional neutropenia with extra-haematopoietic manifestations is_a: Orphanet:101987 ! Constitutional neutropenia [Term] id: Orphanet:331190 name: Immunodeficiency due to ficolin3 deficiency xref: ICD10:D84.1 xref: OMIM:613860 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101992 ! Immunodeficiency due to a complement cascade protein anomaly [Term] id: Orphanet:331193 name: Other immunodeficiency syndromes due to defects in innate immunity is_a: Orphanet:101988 ! Primary immunodeficiency due to a defect in innate immunity [Term] id: Orphanet:3312 name: Thalidomide embryopathy xref: ICD10:Q86.8 xref: SNOMED CT:36193003 xref: UMLS:C0432365 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:251529 ! Toxic or drug-related embryofetopathy relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects property_value: alternative:term "Fetal thalidomide syndrome" xsd:string [Term] id: Orphanet:331206 name: Severe combined immunodeficiency due to complete RAG1/2 deficiency xref: ICD10:D81.1 xref: OMIM:601457 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:317419 ! T-B- severe combined immunodeficiency property_value: alternative:term "SCID due to complete RAG1/2 deficiency" xsd:string [Term] id: Orphanet:331217 name: Other immunodeficiency syndrome due to defects in adaptive immunity is_a: Orphanet:179006 ! Primary immunodeficiency due to a defect in adaptive immunity [Term] id: Orphanet:331220 name: Immunodeficiency due to absence of thymus xref: ICD10:D81.4 is_a: Orphanet:331217 ! Other immunodeficiency syndrome due to defects in adaptive immunity [Term] id: Orphanet:331223 name: Hyper-IgE syndrome xref: ICD10:D82.4 is_a: Orphanet:331217 ! Other immunodeficiency syndrome due to defects in adaptive immunity [Term] id: Orphanet:331226 name: Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency xref: ICD10:D82.4 xref: OMIM:611521 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:169446 ! Autosomal recessive hyper-IgE syndrome property_value: alternative:term "AR hyper-IgE syndrome due to TYK2 deficiency" xsd:string property_value: alternative:term "AR-HIES due to TYK2 deficiency" xsd:string [Term] id: Orphanet:331232 name: Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells is_a: Orphanet:101977 ! Immunodeficiency predominantly affecting antibody production [Term] id: Orphanet:331235 name: Selective IgM deficiency xref: ICD10:D80.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:331232 ! Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells property_value: alternative:term "Selective immunoglobulin M deficiency" xsd:string [Term] id: Orphanet:331240 name: Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells is_a: Orphanet:101977 ! Immunodeficiency predominantly affecting antibody production [Term] id: Orphanet:331244 name: Other immunodeficiency syndrome with predominantly antibody defects xref: ICD10:D80.8 is_a: Orphanet:101977 ! Immunodeficiency predominantly affecting antibody production [Term] id: Orphanet:331249 name: Immunodeficiency syndrome with hypopigmentation xref: ICD10:E70.3 is_a: Orphanet:158038 ! Primary hemophagocytic lymphohistiocytosis [Term] id: Orphanet:3314 name: Thiemann disease, familial form xref: ICD10:M93.2 xref: OMIM:165700 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:2764 ! Osteochondritis dissecans property_value: alternative:term "Aseptic necrosis of phalangeal epiphyses" xsd:string property_value: alternative:term "Osteochondritis of phalangeal epiphyses" xsd:string property_value: alternative:term "Osteochondrosis of phalangeal epiphyses" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." xsd:string [Term] id: Orphanet:3315 name: Thiopurine S-methyltransferase deficiency xref: ICD10:E79.8 xref: OMIM:610460 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:79191 ! Disorder of purine metabolism property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Thiopurine S-methyltransferase (TPMT) deficiency is a metabolic anomaly that increases the risk of adverse drug effects in patients treated with thiopurine drugs, especially hematopoietic toxicity." xsd:string [Term] id: Orphanet:3316 name: Thomas syndrome xref: ICD10:Q87.8 xref: MESH:C536514 xref: UMLS:C2931225 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:156532 ! Rare syndrome with cardiac malformations relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Potter sequence - cleft lip/palate - cardiopathy" xsd:string [Term] id: Orphanet:331676 name: dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit xref: ENSEMBL:ENSG00000136908 xref: GENATLAS:DPM2 xref: HGNC:3006 xref: OMIM:603564 xref: REACTOME:O94777 xref: UNIPROTKB/SWISSPROT:O94777 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:329178 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital muscular dystrophy with intellectual disability and severe epilepsy property_value: alternative:term "DPM synthase complex subunit" xsd:string property_value: alternative:term "MGC111193" xsd:string property_value: alternative:term "MGC21559" xsd:string property_value: symbol "DPM2" xsd:string [Term] id: Orphanet:331681 name: HECT and RLD domain containing E3 ubiquitin protein ligase 2 xref: ENSEMBL:ENSG00000128731 xref: GENATLAS:HERC2 xref: HGNC:4868 xref: OMIM:605837 xref: REACTOME:O95714 xref: UNIPROTKB/SWISSPROT:O95714 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:329195 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Developmental delay with autism spectrum disorder and gait instability property_value: alternative:term "D15F37S1" xsd:string property_value: alternative:term "hect domain and RLD 2" xsd:string property_value: alternative:term "jdf2" xsd:string property_value: alternative:term "p528" xsd:string property_value: symbol "HERC2" xsd:string [Term] id: Orphanet:331692 name: calpain 5 xref: GENATLAS:CAPN5 xref: HGNC:1482 xref: OMIM:602537 xref: UNIPROTKB/SWISSPROT:O15484 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:329211 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant neovascular inflammatory vitreoretinopathy property_value: alternative:term "HTRA3" xsd:string property_value: alternative:term "nCL-3" xsd:string property_value: symbol "CAPN5" xsd:string [Term] id: Orphanet:331697 name: phosphofurin acidic cluster sorting protein 1 xref: ENSEMBL:ENSG00000175115 xref: GENATLAS:PACS1 xref: HGNC:30032 xref: OMIM:607492 xref: REACTOME:Q6VY07 xref: UNIPROTKB/SWISSPROT:Q6VY07 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:329224 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intellectual deficit - craniofacial dysmorphism - cryptorchidism property_value: alternative:term "FLJ10209" xsd:string property_value: alternative:term "KIAA1175" xsd:string property_value: symbol "PACS1" xsd:string [Term] id: Orphanet:3317 name: Thoracolaryngopelvic dysplasia xref: ICD10:Q77.2 xref: MESH:C536517 xref: OMIM:187760 xref: OMIM:187770 xref: UMLS:C1861197 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182108 ! Thoracic malformation relationship: part_of Orphanet:182111 ! Respiratory malformation relationship: part_of Orphanet:183622 ! Genetic respiratory malformation relationship: part_of Orphanet:93426 ! Short rib dysplasia property_value: alternative:term "Barnes syndrome" xsd:string [Term] id: Orphanet:331701 name: zinc finger protein 335 xref: ENSEMBL:ENSG00000198026 xref: GENATLAS:ZNF335 xref: HGNC:15807 xref: OMIM:610827 xref: UNIPROTKB/SWISSPROT:Q9H4Z2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:329228 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microcephalic primordial dwarfism due to ZNF335 deficiency property_value: alternative:term "bA465L10.2" xsd:string property_value: alternative:term "NIF-1" xsd:string property_value: alternative:term "NRC-interacting factor 1" xsd:string property_value: symbol "ZNF335" xsd:string [Term] id: Orphanet:331710 name: diacylglycerol O-acyltransferase 1 xref: ENSEMBL:ENSG00000185000 xref: GENATLAS:DGAT1 xref: HGNC:2843 xref: OMIM:604900 xref: REACTOME:O75907 xref: UNIPROTKB/SWISSPROT:O75907 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:329242 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital chronic diarrhea with protein-losing enteropathy property_value: alternative:term "ARGP1" xsd:string property_value: alternative:term "DGAT" xsd:string property_value: alternative:term "Diacylglycerol O-acyltransferase homolog 1 (mouse)" xsd:string property_value: symbol "DGAT1" xsd:string [Term] id: Orphanet:331716 name: ubiquitin protein ligase E3B xref: ENSEMBL:ENSG00000151148 xref: GENATLAS:UBE3B xref: HGNC:13478 xref: OMIM:608047 xref: REACTOME:Q7Z3V4 xref: UNIPROTKB/SWISSPROT:Q7Z3V4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2707 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oculocerebrofacial syndrome, Kaufman type relationship: Orphanet:317343 Orphanet:329255 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency property_value: symbol "UBE3B" xsd:string [Term] id: Orphanet:331721 name: WD repeat domain 45 xref: ENSEMBL:ENSG00000196998 xref: GENATLAS:WDR45 xref: HGNC:28912 xref: OMIM:300526 xref: UNIPROTKB/SWISSPROT:Q9Y484 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:329284 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Beta-propeller protein-associated neurodegeneration property_value: alternative:term "JM5" xsd:string property_value: alternative:term "NBIA4" xsd:string property_value: alternative:term "NBIA5" xsd:string property_value: alternative:term "Neurodegeneration with brain iron accumulation 4" xsd:string property_value: alternative:term "neurodegeneration with brain iron accumulation 5" xsd:string property_value: alternative:term "WD repeat domain, X-linked 1" xsd:string property_value: alternative:term "WDRX1" xsd:string property_value: alternative:term "WIPI4" xsd:string property_value: symbol "WDR45" xsd:string [Term] id: Orphanet:331747 name: guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type xref: ENSEMBL:ENSG00000141404 xref: GENATLAS:GNAL xref: HGNC:4388 xref: OMIM:139312 xref: REACTOME:P38405 xref: UNIPROTKB/SWISSPROT:P38405 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:329466 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant focal dystonia, DYT25 property_value: symbol "GNAL" xsd:string [Term] id: Orphanet:331749 name: core-binding factor, runt domain, alpha subunit 2; translocated to, 3 xref: ENSEMBL:ENSG00000129993 xref: GENATLAS:CBFA2T3 xref: HGNC:1537 xref: OMIM:603870 xref: UNIPROTKB/SWISSPROT:O75081 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:329469 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute megakaryoblastic leukemia without Down syndrome property_value: alternative:term "MTG16" xsd:string property_value: alternative:term "MTGR2" xsd:string property_value: alternative:term "Myeloid translocation gene 8 and 16b" xsd:string property_value: alternative:term "ZMYND4" xsd:string property_value: symbol "CBFA2T3" xsd:string [Term] id: Orphanet:3318 name: Essential thrombocythemia xref: ICD10:D47.3 xref: MEDDRA:10015493 xref: MESH:D013920 xref: OMIM:187950 xref: OMIM:601977 xref: OMIM:614521 xref: SNOMED CT:109994006 xref: SNOMED CT:128844009 xref: UMLS:C0040028 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:248404 ! Rare thrombotic disorder due to an acquired platelet anomaly relationship: part_of Orphanet:98274 ! Myeloproliferative neoplasm property_value: alternative:term "Essential thrombocytosis" xsd:string property_value: alternative:term "ET" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " 450 x 109/L) with a tendency for thrombosis and hemorrhage that shares phenotypic similarities with other acquired myeloproliferative neoplasm (MPN) disorders." xsd:string [Term] id: Orphanet:331806 name: dynamin 1-like xref: ENSEMBL:ENSG00000087470 xref: GENATLAS:DNM1L xref: HGNC:2973 xref: OMIM:603850 xref: REACTOME:O00429 xref: UNIPROTKB/SWISSPROT:O00429 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:330050 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lethal encephalopathy due to mitochondrial and peroxisomal fission defect property_value: alternative:term "DRP1" xsd:string property_value: alternative:term "DVLP" xsd:string property_value: alternative:term "DYMPLE" xsd:string property_value: alternative:term "HDYNIV" xsd:string property_value: alternative:term "VPS1" xsd:string property_value: symbol "DNM1L" xsd:string [Term] id: Orphanet:331852 name: growth factor, augmenter of liver regeneration xref: ENSEMBL:ENSG00000127554 xref: GENATLAS:GFER xref: HGNC:4236 xref: OMIM:600924 xref: REACTOME:P55789 xref: UNIPROTKB/SWISSPROT:P55789 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:330054 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay property_value: alternative:term "ALR" xsd:string property_value: alternative:term "ERV1" xsd:string property_value: alternative:term "ERV1 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "Growth factor, erv1 (S. cerevisiae)-like (augmenter of liver regeneration)" xsd:string property_value: alternative:term "HERV1" xsd:string property_value: alternative:term "HPO1" xsd:string property_value: alternative:term "HPO2" xsd:string property_value: alternative:term "HSS" xsd:string property_value: symbol "GFER" xsd:string [Term] id: Orphanet:331880 name: chromosome 12 open reading frame 57 xref: ENSEMBL:ENSG00000111678 xref: GENATLAS:C12orf57 xref: HGNC:29521 xref: OMIM:615140 xref: UNIPROTKB/SWISSPROT:Q99622 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Temtamy syndrome property_value: alternative:term "C10" xsd:string property_value: alternative:term "GRCC10" xsd:string property_value: symbol "C12ORF57" xsd:string [Term] id: Orphanet:3319 name: Congenital amegakaryocytic thrombocytopenia xref: ICD10:D61.0 xref: MESH:C535982 xref: OMIM:604498 xref: SNOMED CT:234482009 xref: UMLS:C1327915 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108930 ! No data available relationship: part_of Orphanet:275729 ! Rare hemorrhagic disorder due to a constitutional thrombocytopenia relationship: part_of Orphanet:68383 ! Rare constitutional medullar aplasia [Term] id: Orphanet:331927 name: heterogeneous nuclear ribonucleoprotein A2/B1 xref: ENSEMBL:ENSG00000122566 xref: GENATLAS:HNRNPA2B1 xref: HGNC:5033 xref: OMIM:600124 xref: REACTOME:P22626 xref: UNIPROTKB/SWISSPROT:P22626 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:52430 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Inclusion body myopathy with Paget disease of bone and frontotemporal dementia property_value: alternative:term "HNRPA2B1" xsd:string property_value: symbol "HNRNPA2B1" xsd:string [Term] id: Orphanet:331931 name: heterogeneous nuclear ribonucleoprotein A1 xref: ENSEMBL:ENSG00000135486 xref: GENATLAS:HNRNPA1 xref: HGNC:5031 xref: OMIM:164017 xref: REACTOME:P09651 xref: UNIPROTKB/SWISSPROT:P09651 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:52430 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Inclusion body myopathy with Paget disease of bone and frontotemporal dementia relationship: Orphanet:317343 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis property_value: alternative:term "hnRNP-A1" xsd:string property_value: alternative:term "hnRNPA1" xsd:string property_value: alternative:term "HNRPA1" xsd:string property_value: symbol "HNRNPA1" xsd:string [Term] id: Orphanet:331934 name: wingless-type MMTV integration site family, member 1 xref: ENSEMBL:ENSG00000125084 xref: GENATLAS:WNT1 xref: HGNC:12774 xref: OMIM:164820 xref: REACTOME:P04628 xref: UNIPROTKB/SWISSPROT:P04628 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:216812 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 3 relationship: Orphanet:317343 Orphanet:216820 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteogenesis imperfecta type 4 relationship: Orphanet:317345 Orphanet:85193 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic juvenile osteoporosis property_value: alternative:term "INT1" xsd:string property_value: symbol "WNT1" xsd:string [Term] id: Orphanet:331952 name: post-GPI attachment to proteins 2 xref: ENSEMBL:ENSG00000148985 xref: GENATLAS:PGAP2 xref: HGNC:17893 xref: OMIM:615187 xref: UNIPROTKB/SWISSPROT:Q9UHJ9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:247262 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperphosphatasia-intellectual deficiency syndrome property_value: alternative:term "Cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)" xsd:string property_value: alternative:term "CWH43-N" xsd:string property_value: alternative:term "FGF receptor activating protein 1" xsd:string property_value: alternative:term "FRAG1" xsd:string property_value: symbol "PGAP2" xsd:string [Term] id: Orphanet:331958 name: EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase xref: ENSEMBL:ENSG00000163378 xref: GENATLAS:C3orf64 xref: HGNC:28526 xref: OMIM:614789 xref: UNIPROTKB/SWISSPROT:Q5NDL2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:974 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adams-Oliver syndrome property_value: alternative:term "AER61" xsd:string property_value: alternative:term "AER61 glycosyltransferase" xsd:string property_value: alternative:term "C3orf64" xsd:string property_value: alternative:term "Chromosome 3 open reading frame 64" xsd:string property_value: alternative:term "FLJ33770" xsd:string property_value: symbol "EOGT" xsd:string [Term] id: Orphanet:331967 name: caseinolytic mitochondrial matrix peptidase proteolytic subunit xref: ENSEMBL:ENSG00000125656 xref: GENATLAS:CLPP xref: HGNC:2084 xref: OMIM:601119 xref: UNIPROTKB/SWISSPROT:Q16740 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2855 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Perrault syndrome property_value: alternative:term "ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human" xsd:string property_value: alternative:term "ClpP (caseinolytic protease, ATP-dependent, proteolytic subunit, E. coli) homolog" xsd:string property_value: alternative:term "ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli)" xsd:string property_value: alternative:term "ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E. coli)" xsd:string property_value: symbol "CLPP" xsd:string [Term] id: Orphanet:331972 name: leucyl-tRNA synthetase 2, mitochondrial xref: ENSEMBL:ENSG00000011376 xref: GENATLAS:LARS2 xref: HGNC:17095 xref: OMIM:604544 xref: REACTOME:Q15031 xref: UNIPROTKB/SWISSPROT:Q15031 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2855 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Perrault syndrome property_value: alternative:term "KIAA0028" xsd:string property_value: alternative:term "Leucine tRNA ligase 2, mitochondrial" xsd:string property_value: alternative:term "LEURS" xsd:string property_value: alternative:term "MGC26121" xsd:string property_value: symbol "LARS2" xsd:string [Term] id: Orphanet:331979 name: potassium channel tetramerization domain containing 1 xref: ENSEMBL:ENSG00000134504 xref: GENATLAS:KCTD1 xref: HGNC:18249 xref: OMIM:613420 xref: UNIPROTKB/SWISSPROT:Q719H9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2036 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Scalp-ear-nipple syndrome property_value: alternative:term "C18orf5" xsd:string property_value: alternative:term "Potassium channel tetramerisation domain containing 1" xsd:string property_value: symbol "KCTD1" xsd:string [Term] id: Orphanet:332 name: Congenital intrinsic factor deficiency xref: ICD10:D51.0 xref: MEDDRA:10070440 xref: OMIM:243320 xref: OMIM:261000 xref: SNOMED CT:234361004 xref: UMLS:C0340957 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79171 ! Disorder of cobalamin metabolism and transport relationship: part_of Orphanet:98396 ! Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder property_value: alternative:term "Congenital pernicious anemia" xsd:string property_value: alternative:term "Gastric intrinsic factor deficiency" xsd:string property_value: alternative:term "Hereditary juvenile meganoblastic anemia due to intrinsic factor deficiency" xsd:string property_value: alternative:term "IFD" xsd:string property_value: alternative:term "Intrinsic factor deficiency" xsd:string [Term] id: Orphanet:3320 name: Thrombocytopenia - absent radius xref: ICD10:Q87.2 xref: OMIM:274000 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:275729 ! Rare hemorrhagic disorder due to a constitutional thrombocytopenia relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects property_value: alternative:term "TAR syndrome" xsd:string [Term] id: Orphanet:332034 name: T-box 6 xref: ENSEMBL:ENSG00000149922 xref: GENATLAS:TBX6 xref: HGNC:11605 xref: OMIM:602427 xref: UNIPROTKB/SWISSPROT:O95947 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1797 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant spondylocostal dysostosis relationship: Orphanet:317343 Orphanet:247775 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Classic Mayer-Rokitansky-Küster-Hauser syndrome relationship: Orphanet:317343 Orphanet:2578 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MURCS association property_value: symbol "TBX6" xsd:string [Term] id: Orphanet:332043 name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 xref: ENSEMBL:ENSG00000174684 xref: GENATLAS:B3GNT1 xref: HGNC:15685 xref: OMIM:605517 xref: REACTOME:O43505 xref: UNIPROTKB/SWISSPROT:O43505 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Walker-Warburg syndrome property_value: alternative:term "B3GN-T1" xsd:string property_value: alternative:term "B3GNT6" xsd:string property_value: alternative:term "BETA3GNTI" xsd:string property_value: alternative:term "iGAT" xsd:string property_value: alternative:term "iGNT" xsd:string property_value: alternative:term "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase" xsd:string property_value: alternative:term "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6" xsd:string property_value: symbol "B3GNT1" xsd:string [Term] id: Orphanet:332055 name: piezo-type mechanosensitive ion channel component 2 xref: ENSEMBL:ENSG00000154864 xref: GENATLAS:PIEZO2 xref: HGNC:26270 xref: OMIM:613629 xref: UNIPROTKB/SWISSPROT:Q9H5I5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Arthrogryposis with oculomotor limitation and electroretinal anomalies property_value: alternative:term "C18orf30" xsd:string property_value: alternative:term "C18orf58" xsd:string property_value: alternative:term "Chromosome 18 open reading frame 30" xsd:string property_value: alternative:term "Chromosome 18 open reading frame 58" xsd:string property_value: alternative:term "FAM38B" xsd:string property_value: alternative:term "FAM38B2" xsd:string property_value: alternative:term "Family with sequence similarity 38, member B" xsd:string property_value: alternative:term "FLJ23144" xsd:string property_value: alternative:term "FLJ23403" xsd:string property_value: alternative:term "FLJ34907" xsd:string property_value: alternative:term "HsT748" xsd:string property_value: alternative:term "HsT771" xsd:string property_value: symbol "PIEZO2" xsd:string [Term] id: Orphanet:332077 name: protein kinase C, delta xref: ENSEMBL:ENSG00000163932 xref: GENATLAS:PRKCD xref: HGNC:9399 xref: IUPHAR:1485 xref: OMIM:176977 xref: REACTOME:Q05655 xref: UNIPROTKB/SWISSPROT:Q05655 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1572 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Common variable immunodeficiency relationship: Orphanet:317343 Orphanet:300345 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive systemic lupus erythematosus relationship: Orphanet:317343 Orphanet:3261 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autoimmune lymphoproliferative syndrome property_value: symbol "PRKCD" xsd:string [Term] id: Orphanet:33208 name: Idiopathic hypersomnia xref: ICD10:F51.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:68354 ! Sleep disorder property_value: alternative:term "Primary hypersomnia" xsd:string [Term] id: Orphanet:332108 name: Ets2 repressor factor xref: ENSEMBL:ENSG00000105722 xref: GENATLAS:ERF xref: HGNC:3444 xref: OMIM:611888 xref: REACTOME:P50548 xref: UNIPROTKB/SWISSPROT:P50548 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:207 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Crouzon disease relationship: Orphanet:317343 Orphanet:2343 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated cloverleaf skull syndrome relationship: Orphanet:317343 Orphanet:3267 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial lambdoid synostosis relationship: Orphanet:317343 Orphanet:35093 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated scaphocephaly property_value: alternative:term "PE-2" xsd:string property_value: alternative:term "PE2" xsd:string property_value: symbol "ERF" xsd:string [Term] id: Orphanet:332111 name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 xref: ENSEMBL:ENSG00000073584 xref: GENATLAS:SMARCE1 xref: HGNC:11109 xref: OMIM:603111 xref: UNIPROTKB/SWISSPROT:Q969G3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1465 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Coffin-Siris syndrome relationship: Orphanet:317343 Orphanet:263662 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial multiple meningioma property_value: alternative:term "BAF57" xsd:string property_value: symbol "SMARCE1" xsd:string [Term] id: Orphanet:332191 name: ficolin (collagen/fibrinogen domain containing) 3 xref: ENSEMBL:ENSG00000142748 xref: GENATLAS:FCN3 xref: HGNC:3625 xref: OMIM:604973 xref: REACTOME:O75636 xref: UNIPROTKB/SWISSPROT:O75636 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:331190 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency due to ficolin3 deficiency property_value: alternative:term "FCNH" xsd:string property_value: alternative:term "Ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen)" xsd:string property_value: alternative:term "ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)" xsd:string property_value: alternative:term "HAKA1" xsd:string property_value: alternative:term "Hakata antigen" xsd:string property_value: symbol "FCN3" xsd:string [Term] id: Orphanet:3322 name: Hoyeraal-Hreidarsson syndrome xref: ICD10:D61.0 xref: MESH:C536068 xref: OMIM:305000 xref: UMLS:C1846142 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:269523 ! Syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:269567 ! Genetic syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:331217 ! Other immunodeficiency syndrome due to defects in adaptive immunity relationship: part_of Orphanet:68383 ! Rare constitutional medullar aplasia relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia." xsd:string [Term] id: Orphanet:33226 name: Waldenström macroglobulinemia xref: ICD10:C88.0 xref: MEDDRA:10047801 xref: MESH:D008258 xref: OMIM:153600 xref: OMIM:610430 xref: SNOMED CT:190817009 xref: SNOMED CT:190818004 xref: SNOMED CT:35562000 xref: UMLS:C0024419 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:207046 ! Malignant lymphoma with peripheral neuropathy relationship: part_of Orphanet:300842 ! Indolent B-cell non-Hodgkin lymphoma property_value: alternative:term "Lymphoplasmacytic immunocytoma" xsd:string property_value: alternative:term "Lymphoplasmacytic lymphoma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of an immunoglobulin M (IgM) serum monoclonal protein." xsd:string [Term] id: Orphanet:3323 name: Thrombocytopenia - Robin sequence xref: MESH:C536898 xref: UMLS:C2931364 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome property_value: alternative:term "Braddock-Carey syndrome" xsd:string [Term] id: Orphanet:3324 name: Familial thrombomodulin anomalies xref: ICD10:D68.8 xref: MESH:C536900 xref: OMIM:614486 xref: UMLS:C2931365 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:248361 ! Rare thrombotic disorder due to a constitutional coagulation factors defect [Term] id: Orphanet:332459 name: tumor necrosis factor (ligand) superfamily, member 12 xref: ENSEMBL:ENSG00000239697 xref: GENATLAS:TNFSF12 xref: HGNC:11927 xref: OMIM:602695 xref: UNIPROTKB/SWISSPROT:O43508 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1572 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Common variable immunodeficiency property_value: alternative:term "APO3L" xsd:string property_value: alternative:term "DR3LG" xsd:string property_value: alternative:term "TWEAK" xsd:string property_value: symbol "TNFSF12" xsd:string [Term] id: Orphanet:332465 name: contactin 2 (axonal) xref: ENSEMBL:ENSG00000184144 xref: GENATLAS:CNTN2 xref: HGNC:2172 xref: OMIM:190197 xref: REACTOME:Q02246 xref: UNIPROTKB/SWISSPROT:Q02246 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:86814 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Benign adult familial myoclonic epilepsy property_value: alternative:term "AXT" xsd:string property_value: alternative:term "TAG-1" xsd:string property_value: alternative:term "TAX" xsd:string property_value: alternative:term "TAX1" xsd:string property_value: symbol "CNTN2" xsd:string [Term] id: Orphanet:3325 name: Heparin-induced thrombocytopenia xref: ICD10:D69.5 xref: MEDDRA:10062506 xref: SNOMED CT:73397007 xref: UMLS:C0272285 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:248365 ! Rare thrombotic disorder due to an acquired coagulation factors defect property_value: alternative:term "HAT" xsd:string property_value: alternative:term "Heparin-associated thrombocytopenia" xsd:string property_value: alternative:term "Heparin-induced thrombocytopenia type 2" xsd:string property_value: alternative:term "HIT" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Heparin-induced thrombocytopenia (HIT) is a drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis." xsd:string [Term] id: Orphanet:3326 name: Thymic-renal-anal-lung dysplasia xref: ICD10:Q87.8 xref: MESH:C536907 xref: OMIM:274265 xref: UMLS:C1848812 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation [Term] id: Orphanet:3327 name: Thyrocerebrorenal syndrome xref: OMIM:274240 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Cutler-Bass-Romshe syndrome" xsd:string [Term] id: Orphanet:33276 name: Kaposi's sarcoma xref: ICD10:C46 xref: MEDDRA:10023284 xref: MESH:D012514 xref: OMIM:148000 xref: SNOMED CT:109385007 xref: SNOMED CT:49937004 xref: UMLS:C0036220 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102024 ! HHV-8 related disorders relationship: part_of Orphanet:3394 ! Soft tissue sarcoma [Term] id: Orphanet:3328 name: Absent tibia - polydactyly - arachnoid cyst xref: MESH:C536918 xref: OMIM:601027 xref: UMLS:C2931368 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Holmes-Collins syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia." xsd:string [Term] id: Orphanet:3329 name: Tibial aplasia - ectrodactyly xref: ICD10:Q73.8 xref: OMIM:119100 xref: OMIM:610685 xref: OMIM:612576 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:294957 ! Dysostosis with combined reduction defects of upper and lower limbs property_value: alternative:term "Aplasia of tibia with split-hand/split-foot deformity" xsd:string property_value: alternative:term "SHFLD syndrome" xsd:string property_value: alternative:term "SHFM associated with aplasia of long bones" xsd:string property_value: alternative:term "Split hand/foot malformation with long bone deficiency" xsd:string property_value: alternative:term "Split-hand/foot malformation associated with aplasia of long bones" xsd:string property_value: alternative:term "TH-SHFM" xsd:string property_value: alternative:term "Tibial hemimelia with split hand/foot malformation" xsd:string property_value: alternative:term "Tibial hemimelia-ectrodactyly syndrome" xsd:string [Term] id: Orphanet:332912 name: DNA replication helicase/nuclease 2 xref: ENSEMBL:ENSG00000138346 xref: GENATLAS:DNA2 xref: HGNC:2939 xref: OMIM:601810 xref: REACTOME:P51530 xref: UNIPROTKB/SWISSPROT:P51530 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352470 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial DNA deletion syndrome with progressive myopathy property_value: alternative:term "DNA replication helicase 2 homolog (yeast)" xsd:string property_value: alternative:term "DNA2 DNA replication helicase 2-like (yeast)" xsd:string property_value: alternative:term "DNA2L" xsd:string property_value: alternative:term "KIAA0083" xsd:string property_value: symbol "DNA2" xsd:string [Term] id: Orphanet:333 name: Farber lipogranulomatosis xref: ICD10:E75.2 xref: MESH:C537075 xref: MESH:D055577 xref: OMIM:228000 xref: SNOMED CT:79935000 xref: UMLS:C0268255 xref: UMLS:C2936785 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183484 ! Genetic subcutaneous tissue disease relationship: part_of Orphanet:371442 ! Sphingolipidosis with epilepsy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79225 ! Sphingolipidosis relationship: part_of Orphanet:79382 ! Subcutaneous tissue disease relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy property_value: alternative:term "Ceramidase deficiency" xsd:string property_value: alternative:term "Farber disease" xsd:string [Term] id: Orphanet:333071 name: laminin, alpha 4 xref: ENSEMBL:ENSG00000112769 xref: GENATLAS:LAMA4 xref: HGNC:6484 xref: OMIM:600133 xref: REACTOME:Q16363 xref: UNIPROTKB/SWISSPROT:Q16363 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy property_value: alternative:term "LAMA3" xsd:string property_value: symbol "LAMA4" xsd:string [Term] id: Orphanet:333084 name: caspase recruitment domain family, member 11 xref: ENSEMBL:ENSG00000198286 xref: GENATLAS:CARD11 xref: HGNC:16393 xref: OMIM:607210 xref: REACTOME:Q9BXL7 xref: UNIPROTKB/SWISSPROT:Q9BXL7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:300324 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Persistent polyclonal B-cell lymphocytosis relationship: Orphanet:317343 Orphanet:357237 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe combined immunodeficiency due to CARD11 deficiency property_value: alternative:term "bcl10-interacting maguk protein 3" xsd:string property_value: alternative:term "BIMP3" xsd:string property_value: alternative:term "card-maguk protein 1" xsd:string property_value: alternative:term "CARMA1" xsd:string property_value: symbol "CARD11" xsd:string [Term] id: Orphanet:3331 name: Bowed tibiae - radial anomalies - osteopenia - fractures is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93446 ! Primary bone dysplasia with decreased bone density property_value: alternative:term "Chitty-Hall-Webb syndrome" xsd:string [Term] id: Orphanet:333104 name: crystallin, gamma B xref: ENSEMBL:ENSG00000182187 xref: GENATLAS:CRYGB xref: HGNC:2409 xref: OMIM:123670 xref: UNIPROTKB/SWISSPROT:P07316 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98988 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Anterior polar cataract relationship: Orphanet:317343 Orphanet:98994 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Total congenital cataract relationship: Orphanet:317343 Orphanet:98995 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Zonular cataract property_value: alternative:term "Ccrystallin, gamma 1-2" xsd:string property_value: alternative:term "CRYG2" xsd:string property_value: alternative:term "crystallin, gamma 1-2" xsd:string property_value: symbol "CRYGB" xsd:string [Term] id: Orphanet:33314 name: Jessner's lymphocytic infiltration of the skin is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:90077 ! Other acquired skin disease property_value: alternative:term "Jessner's benign lymphocytic infiltration of the skin" xsd:string property_value: alternative:term "Jessner-Kanof lymphocytic infiltration of the skin" xsd:string [Term] id: Orphanet:3332 name: Hypoplastic tibiae - postaxial polydactyly xref: ICD10:Q74.8 xref: OMIM:188770 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:294957 ! Dysostosis with combined reduction defects of upper and lower limbs property_value: alternative:term "Werner mesomelic syndrome" xsd:string [Term] id: Orphanet:3333 name: Connective tissue dysplasia, Spellacy type is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_2909 with label: Rothmund-Thomson syndrome" xsd:string [Term] id: Orphanet:33355 name: Reticular dysgenesis xref: ICD10:D81.0 xref: MESH:C538361 xref: OMIM:267500 xref: SNOMED CT:111584000 xref: SNOMED CT:350353007 xref: UMLS:C0272167 xref: UMLS:C1282908 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:317419 ! T-B- severe combined immunodeficiency property_value: alternative:term "AK2 deficiency" xsd:string property_value: alternative:term "Congenital aleukocytosis" xsd:string property_value: alternative:term "De Vaal disease" xsd:string property_value: alternative:term "Generalized hematopoietic hypoplasia" xsd:string property_value: alternative:term "SCID with leukopenia" xsd:string property_value: alternative:term "Severe combined immunodeficiency with leukopenia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated." xsd:string [Term] id: Orphanet:33364 name: Trichothiodystrophy xref: ICD10:L67.8 xref: MEDDRA:10044628 xref: MESH:C536559 xref: MESH:D054463 xref: UMLS:C0740342 xref: UMLS:C1955934 is_a: Orphanet:79367 ! Syndromic hair shaft abnormality is_a: Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:3337 name: Primary Fanconi syndrome xref: ICD10:E72.0 xref: OMIM:134600 xref: OMIM:613388 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:183592 ! Genetic renal tubular disease relationship: part_of Orphanet:93603 ! Rare renal tubular disease property_value: alternative:term "Primary Fanconi renotubular syndrome" xsd:string [Term] id: Orphanet:3338 name: Toriello-Carey syndrome xref: ICD10:Q87.8 xref: OMIM:217980 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:199639 ! Syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:269573 ! Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "Corpus callosum agenesis - blepharophimosis - Robin sequence" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia." xsd:string [Term] id: Orphanet:3339 name: Toriello-Lacassie-Droste syndrome xref: OMIM:600268 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Aplasia cutis congenita - epibulbar dermoids" xsd:string property_value: alternative:term "Oculoectodermal syndrome" xsd:string [Term] id: Orphanet:334 name: Familial atrial fibrillation xref: ICD10:I48 xref: OMIM:607554 xref: OMIM:608583 xref: OMIM:608988 xref: OMIM:611493 xref: OMIM:611494 xref: OMIM:612201 xref: OMIM:612240 xref: OMIM:613055 xref: OMIM:613980 xref: OMIM:614022 xref: OMIM:614049 xref: OMIM:614050 xref: OMIM:615377 xref: OMIM:615378 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease [Term] id: Orphanet:33402 name: Hepatocellular carcinoma, childhood-onset xref: ICD10:C22.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:88673 ! Hepatocellular carcinoma [Term] id: Orphanet:33408 name: Bullous lichen planus xref: ICD10:L43.1 xref: MEDDRA:10056960 xref: SNOMED CT:6111009 xref: UMLS:C0023648 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:254370 ! Rare cutaneous lichen planus property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Bullous lichen planus is a variant of rare lichen planus (see this term) characterized by the development of vesico-bullous lesions." xsd:string [Term] id: Orphanet:3341 name: Torticollis - keloids - cryptorchidism - renal dysplasia xref: ICD10:Q87.8 xref: MESH:C536970 xref: OMIM:314300 xref: UMLS:C1839129 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation [Term] id: Orphanet:3342 name: Arterial tortuosity syndrome xref: ICD10:I73.8 xref: OMIM:208050 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:209 ! Cutis laxa relationship: part_of Orphanet:285014 ! Rare disease with thoracic aortic aneurysm and aortic dissection property_value: alternative:term "ATS" xsd:string [Term] id: Orphanet:3343 name: Toxocariasis xref: ICD10:B83.0 xref: MEDDRA:10044269 xref: MESH:D014120 xref: SNOMED CT:406619001 xref: UMLS:C0040553 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163588 ! Rare parasitic disease [Term] id: Orphanet:3344 name: Weismann-Netter syndrome xref: ICD10:Q77.8 xref: MESH:C537082 xref: OMIM:112350 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93439 ! Bent bone dysplasia [Term] id: Orphanet:33445 name: Neuroectodermal melanolysosomal disease xref: MESH:C536203 xref: OMIM:256710 xref: UMLS:C1860157 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:166466 ! Neurocutaneous syndrome with epilepsy relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin relationship: part_of Orphanet:93460 ! Overgrowth syndrome relationship: part_of Orphanet:98708 ! Pigmentation disorder with eye involvement, excluding albinism property_value: alternative:term "Elejalde disease" xsd:string [Term] id: Orphanet:3346 name: Tracheal agenesis xref: ICD10:Q32.1 xref: MESH:C536975 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108993 ! Nonsyndromic respiratory or mediastinal malformation relationship: part_of Orphanet:156252 ! Tracheal anomaly relationship: part_of Orphanet:182111 ! Respiratory malformation [Term] id: Orphanet:3347 name: Tracheobronchomegaly xref: ICD10:J98.0 xref: MEDDRA:10044316 xref: MESH:D014137 xref: OMIM:275300 xref: SNOMED CT:57451009 xref: UMLS:C0040587 is_a: Orphanet:377792 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:97955 ! Rare respiratory disease property_value: alternative:term "Mounier-Kuhn syndrome" xsd:string [Term] id: Orphanet:33475 name: Meningococcal meningitis xref: ICD10:A39.0+ xref: ICD10:G01* xref: MEDDRA:10027249 xref: MESH:D008585 xref: SNOMED CT:192644005 xref: UMLS:C0025294 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:166490 ! Infectious disease with epilepsy relationship: part_of Orphanet:98010 ! Infectious disease of the nervous system [Term] id: Orphanet:3348 name: Tracheobronchopathia osteochondroplastica xref: ICD10:J98.0 xref: OMIM:189961 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101944 ! Rare pulmonary disease property_value: alternative:term "Tracheopathia osteoplastica" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi." xsd:string [Term] id: Orphanet:3349 name: Treft-Sanborn-Carey syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_3212 with label: Autosomal dominant optic atrophy and congenital deafness" xsd:string [Term] id: Orphanet:335 name: Congenital fibrinogen deficiency xref: ICD10:D68.2 xref: OMIM:202400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:68334 ! Rare hemorrhagic disorder due to a constitutional coagulation factors defect [Term] id: Orphanet:3350 name: Tremor - nystagmus - duodenal ulcer xref: OMIM:190310 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:306712 ! Rare tremor disorder property_value: alternative:term "Neuhauser-Daly-Magnelli syndrome" xsd:string [Term] id: Orphanet:3351 name: Trichodental syndrome xref: MESH:C536551 xref: OMIM:601453 xref: SNOMED CT:277810000 xref: UMLS:C0406724 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:79367 ! Syndromic hair shaft abnormality relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Kersey syndrome" xsd:string [Term] id: Orphanet:3352 name: Tricho-dento-osseous syndrome xref: ICD10:Q82.4 xref: MESH:C536549 xref: OMIM:190320 xref: SNOMED CT:38993008 xref: UMLS:C0265333 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:79367 ! Syndromic hair shaft abnormality relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density property_value: alternative:term "TDO syndrome" xsd:string [Term] id: Orphanet:3353 name: Trichodermodysplasia - dental alterations is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Pinheiro-Freire Maia-Miranda syndrome" xsd:string [Term] id: Orphanet:3354 name: Tricho-oculo-dermo-vertebral syndrome xref: OMIM:601701 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Alves-dos Santos-Castelo syndrome" xsd:string property_value: alternative:term "Ectodermal dysplasia - cataracts - kyphoscoliosis" xsd:string [Term] id: Orphanet:33543 name: Kleine-Levin syndrome xref: ICD10:G47.8 xref: MEDDRA:10053712 xref: MESH:D017593 xref: OMIM:148840 xref: SNOMED CT:111488004 xref: UMLS:C0206085 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:68354 ! Sleep disorder [Term] id: Orphanet:3355 name: Tricho-odonto-onychial dysplasia xref: OMIM:275450 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Tricho-odonto-onychial dysplasia with bone deficiency in frontoparietal region" xsd:string [Term] id: Orphanet:3357 name: Tricho-odonto-onychodysplasia - dominant syndactyly is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Trueb-Burg-Bottani syndrome" xsd:string [Term] id: Orphanet:33572 name: 5-oxoprolinase deficiency xref: ICD10:E72.8 xref: MESH:C535322 xref: OMIM:260005 xref: SNOMED CT:26132002 xref: UMLS:C0268525 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79196 ! Disorder of the gamma-glutamyl cycle property_value: alternative:term "Oxoprolinuria due to oxoprolinase deficiency" xsd:string [Term] id: Orphanet:33573 name: Gamma-glutamyl transpeptidase deficiency xref: ICD10:E72.8 xref: OMIM:231950 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79196 ! Disorder of the gamma-glutamyl cycle property_value: alternative:term "Glutathionuria" xsd:string [Term] id: Orphanet:33574 name: Gamma-glutamylcysteine synthetase deficiency xref: ICD10:D55.1 xref: OMIM:230450 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79196 ! Disorder of the gamma-glutamyl cycle relationship: part_of Orphanet:98370 ! Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies property_value: alternative:term "Glutamate-cysteine ligase deficiency" xsd:string [Term] id: Orphanet:33577 name: Nodular non-suppurative panniculitis xref: ICD10:M35.6 xref: MEDDRA:10047883 xref: MESH:D010201 xref: SNOMED CT:33760009 xref: UMLS:C0030328 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79382 ! Subcutaneous tissue disease property_value: alternative:term "Idiopathic lobular panniculitis" xsd:string property_value: alternative:term "Idiopathic nodular panniculitis" xsd:string property_value: alternative:term "Pfeiffer-Weber-Christian syndrome" xsd:string property_value: alternative:term "Relapsing febrile nodular nonsuppurative panniculitis" xsd:string property_value: alternative:term "Relapsing febrile nodular panniculitis" xsd:string property_value: alternative:term "WCD" xsd:string property_value: alternative:term "Weber-Christian disease" xsd:string property_value: alternative:term "Weber-Christian panniculitis" xsd:string [Term] id: Orphanet:336 name: Fibromuscular dysplasia of arteries xref: ICD10:I77.3 xref: MEDDRA:10054794 xref: MESH:C537929 xref: MESH:D005352 xref: OMIM:135580 xref: SNOMED CT:359553002 xref: UMLS:C0016052 xref: UMLS:C1851111 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:68362 ! Rare vascular disease relationship: part_of Orphanet:93618 ! Rare cause of hypertension [Term] id: Orphanet:3361 name: Trichodysplasia - xeroderma xref: OMIM:190360 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:79367 ! Syndromic hair shaft abnormality [Term] id: Orphanet:3362 name: Trichomegaly - cataract - hereditary spherocytosis xref: ICD10:Q87.8 xref: OMIM:190330 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Goldstein-Hutt syndrome" xsd:string [Term] id: Orphanet:3363 name: Trichomegaly - retina pigmentary degeneration - dwarfism xref: OMIM:275400 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Long eyelashes - intellectual deficit" xsd:string property_value: alternative:term "Oliver-McFarlane syndrome" xsd:string [Term] id: Orphanet:3365 name: Trigonocephaly - broad thumbs xref: ICD10:Q87.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis property_value: alternative:term "Hunter-Rudd-Hoffmann syndrome" xsd:string [Term] id: Orphanet:3366 name: Isolated trigonocephaly xref: ICD10:Q75.0 xref: OMIM:190440 xref: OMIM:614485 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:139390 ! Isolated craniosynostosis relationship: part_of Orphanet:98684 ! Craniostenosis associated with a strabismus property_value: alternative:term "Non-syndromic metopic craniosynostosis" xsd:string [Term] id: Orphanet:3368 name: Trigonocephaly - bifid nose - acral anomalies xref: ICD10:Q87.0 xref: OMIM:275595 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit [Term] id: Orphanet:3369 name: Trigonocephaly - short stature - developmental delay xref: ICD10:Q87.0 xref: OMIM:314320 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Say-Meyer syndrome" xsd:string [Term] id: Orphanet:337 name: Fibrodysplasia ossificans progressiva xref: ICD10:M61.1 xref: MEDDRA:10068715 xref: MESH:D009221 xref: OMIM:135100 xref: SNOMED CT:82725007 xref: UMLS:C0016037 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183484 ! Genetic subcutaneous tissue disease relationship: part_of Orphanet:364531 ! Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments relationship: part_of Orphanet:79382 ! Subcutaneous tissue disease property_value: alternative:term "FOP" xsd:string property_value: alternative:term "Man of stone" xsd:string property_value: alternative:term "Myositis ossificans progressiva" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." xsd:string [Term] id: Orphanet:3375 name: Trisomy X xref: ICD10:Q97.0 xref: MESH:D014314 xref: SNOMED CT:35111009 xref: UMLS:C0221033 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:263723 ! Polysomy of X chromosome relationship: part_of Orphanet:95710 ! Non-acquired premature ovarian failure property_value: alternative:term "47,XXX" xsd:string property_value: alternative:term "Triple X" xsd:string property_value: alternative:term "Triplo-X" xsd:string property_value: alternative:term "XXX" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX)." xsd:string [Term] id: Orphanet:3376 name: Triploidy xref: ICD10:Q92.7 xref: MESH:D057885 xref: SNOMED CT:14847005 xref: SNOMED CT:66651005 xref: UMLS:C0333693 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:96321 ! Polyploidy relationship: part_of Orphanet:98642 ! Chromosomal anomaly with cataract [Term] id: Orphanet:3377 name: Trismus - pseudocamptodactyly xref: ICD10:M24.5 xref: ICD10:Q68.1 xref: OMIM:158300 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:97120 ! Distal arthrogryposis property_value: alternative:term "Distal arthrogryposis type 7" xsd:string property_value: alternative:term "Dutch-Kentucky syndrome" xsd:string property_value: alternative:term "Hecht syndrome" xsd:string property_value: alternative:term "Hecht-Beals syndrome" xsd:string [Term] id: Orphanet:3378 name: Trisomy 13 xref: ICD10:Q91.4 xref: ICD10:Q91.5 xref: ICD10:Q91.6 xref: ICD10:Q91.7 xref: MEDDRA:10044686 xref: UMLS:C2936830 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:108979 ! Syndromic diaphragmatic or abdominal wall malformation relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:98131 ! Total autosomal trisomy relationship: part_of Orphanet:98642 ! Chromosomal anomaly with cataract relationship: part_of Orphanet:98669 ! Congenital vitreoretinal dysplasia relationship: part_of Orphanet:98683 ! Syndrome with a symptomatic strabismus property_value: alternative:term "Patau syndrome" xsd:string [Term] id: Orphanet:3379 name: Distal trisomy 17q xref: ICD10:Q92.3 xref: MESH:C536579 xref: UMLS:C2931247 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262968 ! Partial duplication of the long arm of chromosome 17 property_value: alternative:term "Distal duplication 17q" xsd:string property_value: alternative:term "Telomeric duplication 17q" xsd:string property_value: alternative:term "Trisomy 17qter" xsd:string [Term] id: Orphanet:338 name: Familial multiple fibrofolliculoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma [Term] id: Orphanet:3380 name: Trisomy 18 xref: ICD10:Q91.0 xref: ICD10:Q91.1 xref: ICD10:Q91.2 xref: ICD10:Q91.3 xref: MEDDRA:10053884 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:108979 ! Syndromic diaphragmatic or abdominal wall malformation relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:98131 ! Total autosomal trisomy relationship: part_of Orphanet:98596 ! Eyebrow hypertrophy relationship: part_of Orphanet:98600 ! Eyebrow/eyelashes distichiasis relationship: part_of Orphanet:98642 ! Chromosomal anomaly with cataract property_value: alternative:term "Chromosome 18 duplication" xsd:string property_value: alternative:term "Edwards syndrome" xsd:string [Term] id: Orphanet:3383 name: Humerus trochlea aplasia xref: ICD10:Q74.0 xref: OMIM:191000 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:294973 ! Humeral agenesis/hypoplasia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus." xsd:string [Term] id: Orphanet:3384 name: Truncus arteriosus xref: ICD10:Q20.0 xref: OMIM:217095 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2445 ! Conotruncal heart malformations property_value: alternative:term "Common aortico-pulmonary trunk" xsd:string property_value: alternative:term "Common arterial trunk" xsd:string property_value: alternative:term "TAC" xsd:string [Term] id: Orphanet:3385 name: African trypanosomiasis xref: ICD10:B56 xref: MEDDRA:10001461 xref: MESH:D014353 xref: SNOMED CT:27031003 xref: UMLS:C0041228 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163588 ! Rare parasitic disease property_value: alternative:term "Sleeping sickness" xsd:string [Term] id: Orphanet:3386 name: American trypanosomiasis xref: ICD10:B57 xref: MEDDRA:10001935 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:163588 ! Rare parasitic disease property_value: alternative:term "Chagas disease" xsd:string [Term] id: Orphanet:3387 name: Isolated anterior cervical hypertrichosis xref: ICD10:L68.2 xref: OMIM:600457 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79365 ! Hypertrichosis property_value: alternative:term "Hairy throat syndrome" xsd:string property_value: alternative:term "Tsukahara-Kajii syndrome" xsd:string [Term] id: Orphanet:3388 name: Neural tube defect is_a: Orphanet:108989 ! Nonsyndromic central nervous system malformation is_a: Orphanet:269550 ! Genetic nonsyndromic central nervous system malformation [Term] id: Orphanet:3389 name: Tuberculosis xref: MEDDRA:10044755 xref: MESH:D014376 xref: OMIM:607948 xref: SNOMED CT:371569005 xref: SNOMED CT:373576009 xref: SNOMED CT:56717001 xref: UMLS:C0041296 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:101944 ! Rare pulmonary disease relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease relationship: part_of Orphanet:95617 ! Pituitary hormone deficiency secondary to a granulomatous disease relationship: part_of Orphanet:98048 ! Rare male infertility [Term] id: Orphanet:3390 name: Proximal tubulopathy - diabetes mellitus - cerebellar ataxia xref: ICD10:Q87.8 xref: OMIM:560000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254793 ! Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease [Term] id: Orphanet:3391 name: Odonto-onycho-hypohidrotic dysplasia - midline scalp defects is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_2036 with label: Scalp-ear-nipple syndrome" xsd:string [Term] id: Orphanet:3392 name: Tularemia xref: ICD10:A21.0 xref: ICD10:A21.1 xref: ICD10:A21.2 xref: ICD10:A21.3 xref: ICD10:A21.7 xref: ICD10:A21.8 xref: ICD10:A21.9 xref: MEDDRA:10045146 xref: MESH:D014406 xref: SNOMED CT:19265001 xref: UMLS:C0041351 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease [Term] id: Orphanet:3394 name: Soft tissue sarcoma is_a: Orphanet:71209 ! Rare soft tissue tumor property_value: alternative:term "Malignant mesenchymal tumor" xsd:string property_value: alternative:term "Malignant soft tissue tumor" xsd:string [Term] id: Orphanet:3398 name: Thymic epithelial neoplasm xref: ICD10:C37 xref: ICD10:D15.0 xref: MESH:C536905 xref: SNOMED CT:128621008 xref: UMLS:C1266101 is_a: Orphanet:100100 ! Thymic tumor relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "TEN" xsd:string property_value: alternative:term "Thymic epithelial tumor" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Thymic epithelial neoplasms (TEN) are rare malignancies arising from the epithelium of the thymic gland. They comprise three sub-types: thymoma, thymic carcinoma, and thymic neuroendocrine carcinoma (see these terms)." xsd:string [Term] id: Orphanet:3399 name: Germ cell tumor is_a: Orphanet:98057 ! Rare tumor [Term] id: Orphanet:340 name: Hemorrhagic fever - renal syndrome xref: ICD10:A98.5 xref: MEDDRA:10023484 xref: MESH:C535630 xref: MESH:D006480 xref: SNOMED CT:102455002 xref: SNOMED CT:364756009 xref: UMLS:C0019101 xref: UMLS:C2930957 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:341 ! Viral hemorrhagic fever property_value: alternative:term "Hantavirosis" xsd:string property_value: alternative:term "Hantavirus fever" xsd:string [Term] id: Orphanet:3400 name: Aorto-ventricular tunnel xref: ICD10:Q20.8 is_a: Orphanet:98725 ! Ascending aorta anomaly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 [Term] id: Orphanet:3402 name: Transient tyrosinemia of the newborn xref: ICD10:E70.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:284818 ! Disorder of tyrosine metabolism property_value: alternative:term "Transient tyrosinemia of the neonate" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age." xsd:string [Term] id: Orphanet:3403 name: Uhl anomaly xref: ICD10:Q24.8 xref: MEDDRA:10048951 xref: MESH:C536932 xref: OMIM:107970 xref: SNOMED CT:2829000 xref: UMLS:C0265857 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:217678 ! Unclassified cardiomyopathy [Term] id: Orphanet:3404 name: Ulbright-Hodes syndrome xref: ICD10:Q87.8 xref: OMIM:266910 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Renal dysplasia - limb defects" xsd:string property_value: alternative:term "Renal dysplasia - mesomelia - radiohumeral fusion" xsd:string [Term] id: Orphanet:3405 name: Umbilical cord ulceration - intestinal atresia xref: MESH:C536938 xref: UMLS:C2931371 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108969 ! Syndromic intestinal malformation [Term] id: Orphanet:3406 name: Ulerythema ophryogenesis xref: OMIM:604093 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:498 ! Keratosis pilaris atrophicans [Term] id: Orphanet:3408 name: Upington disease xref: ICD10:M91.8 xref: MESH:C536472 xref: OMIM:191520 xref: UMLS:C1860596 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components property_value: alternative:term "Hip dysplasia - enchondromata - ecchondroma" xsd:string [Term] id: Orphanet:3409 name: Urban-Rogers-Meyer syndrome xref: ICD10:Q87.8 xref: OMIM:264010 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Intellectual deficit - short stature - hand contractures - genital anomalies" xsd:string property_value: alternative:term "Prader-Willi habitus - osteopenia - camptodactyly" xsd:string [Term] id: Orphanet:341 name: Viral hemorrhagic fever xref: SNOMED CT:240523007 is_a: Orphanet:163585 ! Rare viral disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:3411 name: Double uterus - hemivagina - renal agenesis xref: OMIM:192050 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:180148 ! Syndromic uterovaginal malformation relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Double uterus and obstructed hemivagina syndrome" xsd:string property_value: alternative:term "Herlyn-Werner syndrome" xsd:string property_value: alternative:term "Obstructed hemivagina and ipsilateral renal anomaly" xsd:string property_value: alternative:term "OHVIRA syndrome" xsd:string property_value: alternative:term "Wunderlich syndrome" xsd:string [Term] id: Orphanet:3412 name: VACTERL with hydrocephalus xref: ICD10:Q87.8 xref: OMIM:276950 xref: OMIM:314390 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Sujansky-Leonard syndrome" xsd:string [Term] id: Orphanet:34149 name: Autosomal dominant medullary cystic kidney disease with or without hyperuricemia xref: ICD10:Q61.5 xref: OMIM:174000 xref: OMIM:603860 xref: OMIM:609886 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:93587 ! Familial cystic renal disease property_value: alternative:term "Autosomal dominant nephronophthisis" xsd:string [Term] id: Orphanet:3416 name: Hyperostosis corticalis generalisata xref: ICD10:M85.2 xref: OMIM:239100 xref: OMIM:607636 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density property_value: alternative:term "Van Buchem disease" xsd:string [Term] id: Orphanet:3417 name: Van den Bosch syndrome xref: OMIM:314500 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183441 ! Genetic acrokeratoderma relationship: part_of Orphanet:79356 ! Acrokeratoderma relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:342 name: Familial Mediterranean fever xref: ICD10:E85.0 xref: MEDDRA:10016207 xref: MESH:D010505 xref: OMIM:134610 xref: OMIM:249100 xref: SNOMED CT:12579009 xref: SNOMED CT:307421005 xref: UMLS:C0031069 xref: UMLS:C0585274 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:290839 ! Autoinflammatory syndrome with immune deficiency relationship: part_of Orphanet:324924 ! Hereditary periodic fever syndrome relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "Benign paroxysmal peritonitis" xsd:string property_value: alternative:term "Benign recurrent polyserositis" xsd:string property_value: alternative:term "Familial paroxysmal polyserositis" xsd:string property_value: alternative:term "FMF" xsd:string property_value: alternative:term "Periodic disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles." xsd:string [Term] id: Orphanet:3421 name: Cerebroretinal vasculopathy xref: OMIM:192315 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:247691 ! Retinal vasculopathy and cerebral leukodystrophy property_value: alternative:term "CRV" xsd:string property_value: alternative:term "Grand-Kaine-Fulling syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cerebroretinal vasculopathy (CRV) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term), characterized by strokes, vision loss, migraines, pseudotumours, dementia and occasionally renal disease." xsd:string [Term] id: Orphanet:34217 name: Naxos disease xref: ICD10:Q87.8 xref: MESH:C538346 xref: OMIM:601214 xref: UMLS:C1832600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:247 ! Arrhythmogenic right ventricular dysplasia relationship: part_of Orphanet:307804 ! Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature property_value: alternative:term "Keratosis palmoplantaris with arrythmogenic cardiomyopathy" xsd:string property_value: alternative:term "Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy" xsd:string property_value: alternative:term "Palmoplantar keratoderma with arrythmogenic cardiomyopathy" xsd:string [Term] id: Orphanet:3423 name: Vasquez-Hurst-Sotos syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_261483 with label: Xq27.3q28 duplication syndrome" xsd:string [Term] id: Orphanet:3424 name: Velo-facial-skeletal syndrome xref: ICD10:Q87.0 xref: OMIM:600736 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit [Term] id: Orphanet:3426 name: Double outlet right ventricle xref: ICD10:Q20.1 xref: MEDDRA:10013611 xref: MESH:D004310 xref: OMIM:217095 xref: SNOMED CT:204299009 xref: SNOMED CT:7484005 xref: UMLS:C0013069 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2452 ! Vascular malposition relationship: part_of Orphanet:271853 ! Genetic cardiac anomaly property_value: alternative:term "DORV" xsd:string [Term] id: Orphanet:3427 name: Double outlet left ventricle xref: ICD10:Q20.2 xref: SNOMED CT:7368005 xref: UMLS:C0265809 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2452 ! Vascular malposition property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Double-outlet left ventricle (DOLV) is an extremely rare form of malpositioned great arteries in which the aorta and the main pulmonary artery, wholly or in a large part, arise from the morphologically left ventricle (LV), usually in the presence of a malalignment ventricular septal defect. By discribing a ventriculo-arterial connection rather than a specific congenital malformation, DOLV includes a broad spectrum of associated lesions. New findings concerning ventricular septation are casting doubt on the validity of the formal pathogenetic hypothesis. DOLV could result from an error in septation of the conotruncus due to a misalignment of the septal primary components. DOLV comprises about 0.05 per cent of the congenital heart disease. Cyanosis is always noted. The clinical manifestations however are greatly modified by the associated lesions. The physical findings, radiograph and electrocardiogram are not diagnostic. Cineangiography, echocardiography, magnetic resonance imaging are more reliable than in the past to establish a definite diagnosis based on the segmental analysis. Biventricular repair is traditionally accomplished by intraventricular baffle procedure or by Rastelli approach or variant of Lecompte operation.Pulmonary root translocation from the LV to the right ventricle (RV) provides excellent anatomic and hemodynamic repair. Some forms with hypoplasia of the RV that preclude biventricular repair are amenable to a functionnal repair by cavopulmonary connections." xsd:string [Term] id: Orphanet:3429 name: Verloove Vanhorick-Brubakk syndrome xref: ICD10:Q87.8 xref: MESH:C536541 xref: OMIM:215850 xref: UMLS:C1859082 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Cleft - limb-heart malformation syndrome" xsd:string [Term] id: Orphanet:343 name: Hyperimmunoglobulinemia D with periodic fever xref: ICD10:E88.8 xref: OMIM:260920 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:290839 ! Autoinflammatory syndrome with immune deficiency relationship: part_of Orphanet:290842 ! Autoinflammatory syndrome with skin involvement relationship: part_of Orphanet:309025 ! Mevalonate kinase deficiency relationship: part_of Orphanet:324924 ! Hereditary periodic fever syndrome property_value: alternative:term "HIDS" xsd:string property_value: alternative:term "Hyper-IgD syndrome" xsd:string property_value: alternative:term "Hyperimmunoglobinemia D with recurrent fever" xsd:string property_value: alternative:term "Hyperimmunoglobulinemia D syndrome" xsd:string property_value: alternative:term "Partial mevalonate kinase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs)." xsd:string [Term] id: Orphanet:3433 name: Microcephaly - brachydactyly - kyphoscoliosis xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: alternative:term "Viljoen-Kallis-Voges syndrome" xsd:string [Term] id: Orphanet:3434 name: MMEP syndrome xref: ICD10:Q87.8 xref: OMIM:601349 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:202948 ! Syndromic microphthalmia property_value: alternative:term "MCOPS8" xsd:string property_value: alternative:term "Microcephaly - microphthalmia - ectrodactyly of lower limbs - prognathism" xsd:string property_value: alternative:term "Syndromic microphthalmia type 8" xsd:string property_value: alternative:term "Viljoen-Smart syndrome" xsd:string [Term] id: Orphanet:3437 name: Vogt-Koyanagi-Harada disease xref: ICD10:H20.8 xref: ICD10:H30.8 xref: SNOMED CT:193497004 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182064 ! Rare neuroinflammatory or neuroimmunological disease relationship: part_of Orphanet:280898 ! Panuveitis relationship: part_of Orphanet:98601 ! Eyebrow/eyelashes pigmentation anomaly property_value: alternative:term "Uveomenigitic syndrome" xsd:string [Term] id: Orphanet:3438 name: Biliary tract malformation - renal failure is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_2697 with label: Arthrogryposis - renal dysfunction - cholestasis" xsd:string [Term] id: Orphanet:3439 name: Von Voss-Cherstvoy syndrome xref: ICD10:Q87.8 xref: OMIM:223340 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "DK phocomelia syndrome" xsd:string property_value: alternative:term "Phocomelia - thrombocytopenia - encephalocele - urogenital malformations" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia." xsd:string [Term] id: Orphanet:344 name: Arbovirus fever is_a: Orphanet:163585 ! Rare viral disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:3440 name: Waardenburg syndrome xref: ICD10:E70.3 xref: MEDDRA:10069203 xref: MESH:D014849 xref: OMIM:148820 xref: OMIM:193500 xref: OMIM:193510 xref: OMIM:600193 xref: OMIM:606662 xref: OMIM:608890 xref: OMIM:611584 xref: SNOMED CT:47434006 xref: UMLS:C0043008 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:138063 ! Syndrome associated with Pierre Robin syndrome relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:183469 ! Genetic hypopigmentation of the skin relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:79376 ! Hypopigmentation of the skin relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98601 ! Eyebrow/eyelashes pigmentation anomaly relationship: part_of Orphanet:98683 ! Syndrome with a symptomatic strabismus relationship: part_of Orphanet:98708 ! Pigmentation disorder with eye involvement, excluding albinism property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Waardenburg syndrome (WS) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes." xsd:string [Term] id: Orphanet:3444 name: Watson syndrome xref: ICD10:Q85.0 xref: OMIM:193520 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:156532 ! Rare syndrome with cardiac malformations relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin property_value: alternative:term "Pulmonic stenosis with 'cafe-au-lait' spots" xsd:string [Term] id: Orphanet:3447 name: Weaver syndrome xref: ICD10:Q87.3 xref: MESH:C536687 xref: OMIM:277590 xref: SNOMED CT:63119004 xref: UMLS:C0265210 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:93460 ! Overgrowth syndrome property_value: alternative:term "Camptodactyly - overgrowth - unusual facies" xsd:string [Term] id: Orphanet:3448 name: Weaver-Williams syndrome xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:3449 name: Weill-Marchesani syndrome xref: ICD10:Q87.0 xref: MEDDRA:10064963 xref: MESH:D056846 xref: OMIM:277600 xref: OMIM:608328 xref: OMIM:613195 xref: OMIM:614819 xref: SNOMED CT:205801004 xref: SNOMED CT:2884008 xref: UMLS:C0265313 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature relationship: part_of Orphanet:98652 ! Lens size anomaly property_value: alternative:term "Spherophakia - brachymorphia" xsd:string [Term] id: Orphanet:345 name: Dissecting cellulitis of the scalp xref: ICD10:L08.8 xref: MEDDRA:10056961 xref: OMIM:260910 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79382 ! Subcutaneous tissue disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia." xsd:string [Term] id: Orphanet:3450 name: Weissenbacher- Zweymuller syndrome xref: ICD10:Q77.7 xref: OMIM:277610 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:93422 ! Type 11 collagen-related bone disorder property_value: alternative:term "Heterozygous OSMED" xsd:string property_value: alternative:term "Heterozygous otospondylomegaepiphyseal dysplasia" xsd:string property_value: alternative:term "Pierre Robin sequence - fetal chondrodysplasia" xsd:string property_value: alternative:term "Pierre Robin syndrome - fetal chondrodysplasia" xsd:string [Term] id: Orphanet:3451 name: West syndrome xref: ICD10:G40.4 xref: OMIM:308350 xref: OMIM:615006 xref: SNOMED CT:28055006 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:182079 ! ARX-related epileptic encephalopathy relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:98258 ! Infantile epilepsy syndrome property_value: alternative:term "Infantile spasms" xsd:string property_value: alternative:term "Intellectual deficit - hypsarrhythmia" xsd:string [Term] id: Orphanet:34514 name: Autosomal recessive limb-girdle muscular dystrophy type 2G xref: ICD10:G71.0 xref: OMIM:601954 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102015 ! Autosomal recessive limb-girdle muscular dystrophy relationship: part_of Orphanet:209056 ! Qualitative or quantitative defects of telethonin property_value: alternative:term "LGMD2G" xsd:string property_value: alternative:term "Limb girdle muscular dystrophy due to telethonin deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by muscle weakness in the four limbs, mild scapular winging, severe atrophy of the quadriceps and anterior tibialis muscles, calf hypertrophy, and lack of respiratory and cardiac involvement." xsd:string [Term] id: Orphanet:34515 name: Autosomal recessive limb-girdle muscular dystrophy type 2I xref: ICD10:G71.0 xref: OMIM:607155 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102015 ! Autosomal recessive limb-girdle muscular dystrophy relationship: part_of Orphanet:207119 ! Qualitative or quantitative defects of FKRP relationship: part_of Orphanet:309469 ! Disorder of O-mannosylglycan synthesis relationship: part_of Orphanet:371047 ! Congenital disorder of glycosylation with neurological involvement property_value: alternative:term "LGMD2I" xsd:string property_value: alternative:term "Limb girdle muscular dystrophy due to FKRP deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy (LGMD; see this term) characterized by proximal limb girdle weakness predominant in the legs, together with bilateral moderate scapulae winging, abdominal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency." xsd:string [Term] id: Orphanet:34516 name: Autosomal dominant limb-girdle muscular dystrophy type 1D xref: ICD10:G71.0 xref: OMIM:603511 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102014 ! Autosomal dominant limb-girdle muscular dystrophy property_value: alternative:term "LGMD1D" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a limb girdle muscular dystrophy (LGMD ; see this term) characterized by muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria." xsd:string [Term] id: Orphanet:34517 name: Autosomal dominant limb-girdle muscular dystrophy type 1E xref: ICD10:G71.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102014 ! Autosomal dominant limb-girdle muscular dystrophy property_value: alternative:term "LGMD1E" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a limb-girdle muscular dystrophy (LGMD) . ;(see this term) characterized by skeletal/ and cardiac myopathy with cardiac conduction defects and musle cytoplasmic inclusions." xsd:string [Term] id: Orphanet:3452 name: Whipple disease xref: ICD10:K90.8+ xref: ICD10:M14.8* xref: MEDDRA:10047931 xref: MESH:C531849 xref: MESH:D008061 xref: SNOMED CT:41545003 xref: UMLS:C0023788 xref: UMLS:C2930851 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:117569 ! Rare intestinal disease relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease relationship: part_of Orphanet:306753 ! Rare disease with myoclonus as a major feature property_value: alternative:term "Intestinal lipodystrophy" xsd:string property_value: alternative:term "Intestinal lipophagic granulomatosis" xsd:string property_value: alternative:term "Secondary non-tropical sprue" xsd:string [Term] id: Orphanet:34520 name: Congenital muscular dystrophy with integrin alpha-7 deficiency xref: ICD10:G71.2 xref: OMIM:613204 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:207098 ! Qualitative or quantitative defects of integrin alpha-7 relationship: part_of Orphanet:97242 ! Congenital muscular dystrophy property_value: alternative:term "Congenital muscular dystrophy with ITGA7 deficiency" xsd:string [Term] id: Orphanet:34521 name: Distal myopathy with early respiratory muscle involvement xref: ICD10:G71.0 xref: OMIM:607569 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206650 ! Autosomal dominant distal myopathy [Term] id: Orphanet:34526 name: Familial primary hypomagnesemia xref: ICD10:E83.4 is_a: Orphanet:183592 ! Genetic renal tubular disease is_a: Orphanet:309848 ! Disorder of magnesium transport is_a: Orphanet:93603 ! Rare renal tubular disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial Primary hypomagnesemia (FPH) is a rare mineral absorption and transport disorder characterized by a selective defect in renal or intestinal magnesium (Mg) absorption resulting in low Mg content of the blood." xsd:string [Term] id: Orphanet:34527 name: Familial primary hypomagnesemia with normocalcuria and normocalcemia xref: ICD10:E83.4 xref: OMIM:611718 xref: OMIM:613882 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:306522 ! Familial primary hypomagnesemia with normocalcuria property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) is a form of Familial primary hypomagnesemia (FPH, see this term), characterized by low serum magnesium (Mg) values but normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor retardation." xsd:string [Term] id: Orphanet:34528 name: Autosomal dominant primary hypomagnesemia with hypocalcuria xref: ICD10:E83.4 xref: OMIM:154020 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:306519 ! Familial primary hypomagnesemia with hypocalcuria property_value: alternative:term "HOMG2" xsd:string property_value: alternative:term "Renal hypomagnesemia type 2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant primary hypomagnesemia with hypocalcuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed." xsd:string [Term] id: Orphanet:3453 name: Autoimmune polyendocrinopathy type 1 xref: ICD10:E31.0 xref: MESH:C538275 xref: OMIM:240300 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:101960 ! Genetic chronic primary adrenal insufficiency relationship: part_of Orphanet:101963 ! Acquired chronic primary adrenal insufficiency relationship: part_of Orphanet:169355 ! Immunodeficiency syndrome with autoimmunity relationship: part_of Orphanet:181405 ! Rare hypoparathyroidism relationship: part_of Orphanet:183643 ! Genetic polyendocrinopathy relationship: part_of Orphanet:208593 ! Genetic hypoparathyroidism relationship: part_of Orphanet:282196 ! Autoimmune polyendocrinopathy relationship: part_of Orphanet:95709 ! Acquired premature ovarian failure property_value: alternative:term "APECED syndrome" xsd:string property_value: alternative:term "APS1" xsd:string property_value: alternative:term "Autoimmune hypoparathyroidism - chronic candidiasis - Addison's disease" xsd:string property_value: alternative:term "Autoimmune hypoparathyroidism - chronic candidosis - Addison's disease" xsd:string property_value: alternative:term "Autoimmune polyendocrine syndrome type 1" xsd:string property_value: alternative:term "Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome" xsd:string property_value: alternative:term "Autoimmune polyendocrinopathy - candidosis - ectodermal dystrophy syndrome" xsd:string property_value: alternative:term "Autoimmune polyglandular syndrome type 1" xsd:string property_value: alternative:term "HAM syndrome" xsd:string property_value: alternative:term "Hypoparathyroidism - Addison's disease - mucocutaneous candidiasis" xsd:string property_value: alternative:term "Hypoparathyroidism - Addison's disease - mucocutaneous candidosis" xsd:string property_value: alternative:term "MEDAC syndrome" xsd:string property_value: alternative:term "Multiple endocrine deficiency - Addison's disease - candidiasis" xsd:string property_value: alternative:term "Multiple endocrine deficiency - Addison's disease - candidosis" xsd:string [Term] id: Orphanet:34533 name: Corneal dystrophy xref: ICD10:H18.5 xref: MEDDRA:10011005 xref: MESH:D003317 xref: SNOMED CT:5587004 xref: SNOMED CT:77797009 xref: UMLS:C0010036 is_a: Orphanet:101435 ! Rare genetic eye disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value." xsd:string [Term] id: Orphanet:3454 name: Intellectual disability-developmental delay-contractures syndrome xref: ICD10:G71.8 xref: MESH:C536703 xref: OMIM:314580 xref: UMLS:C0796200 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:1037 ! Arthrogryposis multiplex congenita relationship: part_of Orphanet:206634 ! Genetic skeletal muscle disease relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Foot contractures - muscle atrophy - oculomotor apraxia" xsd:string property_value: alternative:term "Wieacker-Wolff syndrome" xsd:string [Term] id: Orphanet:3455 name: Wiedemann-Rautenstrauch syndrome xref: ICD10:E34.8 xref: MESH:C536423 xref: OMIM:264090 xref: SNOMED CT:238874008 xref: UMLS:C0406586 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:139033 ! Progeroid syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:363245 ! Genetic progeroid syndrome relationship: part_of Orphanet:79389 ! Premature aging relationship: part_of Orphanet:98305 ! Genetic lipodystrophy relationship: part_of Orphanet:98571 ! Secondary ectropion property_value: alternative:term "Neonatal progeroid syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism." xsd:string [Term] id: Orphanet:3456 name: Wildervanck syndrome xref: ICD10:Q87.8 xref: MEDDRA:10069402 xref: MESH:C536706 xref: OMIM:314600 xref: SNOMED CT:79665007 xref: UMLS:C0265239 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:93454 ! Dysostosis with predominant vertebral and costal involvement property_value: alternative:term "Cervico-oculo-acoustic syndrome" xsd:string [Term] id: Orphanet:34587 name: Glycogen storage disease due to LAMP-2 deficiency xref: ICD10:E74.0 xref: OMIM:300257 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182076 ! Syndromic neurometabolic disease with X-linked intellectual deficit relationship: part_of Orphanet:206959 ! Muscular glycogenosis relationship: part_of Orphanet:217572 ! Glycogen storage disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:309337 ! Lysosomal glycogen storage disease relationship: part_of Orphanet:79201 ! Glycogen storage disease property_value: alternative:term "Danon disease" xsd:string property_value: alternative:term "Glycogenosis due to LAMP-2 deficiency" xsd:string property_value: alternative:term "GSD due to LAMP-2 deficiency" xsd:string property_value: alternative:term "Lysosomal glycogen storage disease with normal acid maltase activity" xsd:string [Term] id: Orphanet:3459 name: Wilson-Turner syndrome xref: OMIM:309585 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:240371 ! Syndromic obesity relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "X-linked intellectual deficit - gynecomastia - obesity" xsd:string [Term] id: Orphanet:34592 name: Immunodeficiency by defective expression of HLA class 1 xref: ICD10:D81.6 xref: OMIM:604571 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency property_value: alternative:term "Bare lymphocyte syndrome type 1" xsd:string [Term] id: Orphanet:346 name: Quinquaud's folliculitis decalvans xref: ICD10:L66.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79364 ! Alopecia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts." xsd:string [Term] id: Orphanet:3460 name: Torg-Winchester syndrome xref: ICD10:Q87.1 xref: MESH:C536051 xref: OMIM:259600 xref: OMIM:277950 xref: SNOMED CT:254151006 xref: UMLS:C1850155 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:371428 ! Multicentric osteolysis-nodulosis-arthropathy spectrum property_value: alternative:term "Winchester syndrome" xsd:string [Term] id: Orphanet:3463 name: Wolfram syndrome xref: ICD10:E10.7 xref: ICD10:H48.0 xref: MESH:D014929 xref: OMIM:222300 xref: OMIM:598500 xref: OMIM:604928 xref: OMIM:614296 xref: SNOMED CT:70694009 xref: UMLS:C0043207 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:181371 ! Rare insulin-dependent diabetes mellitus relationship: part_of Orphanet:183625 ! Rare genetic diabetes mellitus relationship: part_of Orphanet:98677 ! Autosomal recessive syndromic optic atrophy property_value: alternative:term "Diabetes insipidus - diabetes mellitus - optic atrophy - deafness" xsd:string property_value: alternative:term "DIDMOAD syndrome" xsd:string [Term] id: Orphanet:3464 name: Woodhouse-Sakati syndrome xref: MESH:C536742 xref: OMIM:241080 xref: SNOMED CT:237616002 xref: UMLS:C0342286 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:181381 ! Other rare diabetes mellitus relationship: part_of Orphanet:181387 ! Syndrome with hypogonadotropic hypogonadism relationship: part_of Orphanet:181441 ! Non-hypogonadotropic hypogonadism relationship: part_of Orphanet:183625 ! Rare genetic diabetes mellitus relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:370106 ! Rare disorder with dystonia and other neurologic or systemic manifestation relationship: part_of Orphanet:385 ! Neurodegeneration with brain iron accumulation property_value: alternative:term "Diabetes - hypogonadism - deafness - intellectual deficit" xsd:string [Term] id: Orphanet:3465 name: Worster-Drought syndrome xref: ICD10:G80.8 xref: MESH:C536747 xref: OMIM:185480 xref: UMLS:C0796204 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98006 ! Rare neurologic disease property_value: alternative:term "Congenital suprabulbar paresis" xsd:string [Term] id: Orphanet:3466 name: WT limb-blood syndrome xref: ICD10:D61.0 xref: MESH:C536751 xref: OMIM:194350 xref: UMLS:C1327917 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68383 ! Rare constitutional medullar aplasia [Term] id: Orphanet:3467 name: Hereditary xanthinuria xref: ICD10:E79.8 xref: OMIM:278300 xref: OMIM:603592 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79191 ! Disorder of purine metabolism relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease property_value: alternative:term "Classical xanthinuria" xsd:string property_value: alternative:term "Xanthic urolithiasis" xsd:string property_value: alternative:term "Xanthine stone disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis." xsd:string [Term] id: Orphanet:3469 name: XK aprosencephaly xref: ICD10:Q04.3 xref: MESH:C536767 xref: OMIM:207770 xref: SNOMED CT:277921008 xref: UMLS:C0431348 xref: UMLS:C0795952 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:269523 ! Syndrome with a cerebellar malformation as major feature property_value: alternative:term "Atelencephaly" xsd:string property_value: alternative:term "Garcia-Lurie syndrome" xsd:string [Term] id: Orphanet:347 name: Frasier syndrome xref: ICD10:N04.1 xref: MESH:D052159 xref: OMIM:136680 xref: SNOMED CT:445431000 xref: UMLS:C0950122 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102373 ! Primary glomerular disease relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:325638 ! Syndrome with disorder of sex development of gynecological interest relationship: part_of Orphanet:98087 ! Syndrome with 46,XY disorder of sex development [Term] id: Orphanet:3471 name: Young syndrome xref: MEDDRA:10063689 xref: MESH:C536718 xref: OMIM:279000 xref: SNOMED CT:233666007 xref: UMLS:C0340037 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101944 ! Rare pulmonary disease relationship: part_of Orphanet:156610 ! Rare genetic respiratory disease relationship: part_of Orphanet:98048 ! Rare male infertility property_value: alternative:term "Azoospermia - sinopulmonary infections" xsd:string [Term] id: Orphanet:3472 name: Yunis-Varon syndrome xref: ICD10:Q87.8 xref: MESH:C536719 xref: OMIM:216340 xref: UMLS:C1857663 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93451 ! Cleidocranial dysplasia and isolated cranial ossification defect property_value: alternative:term "Cleidocranial dysplasia - micrognathia - absent thumbs" xsd:string [Term] id: Orphanet:3473 name: Zimmermann-Laband syndrome xref: ICD10:Q87.8 xref: OMIM:135500 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Gingival fibromatosis - hepatosplenomegaly - other anomalies" xsd:string property_value: alternative:term "Laband syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet." xsd:string [Term] id: Orphanet:3474 name: Zunich-Kaye syndrome xref: ICD10:Q87.8 xref: OMIM:280000 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:309515 ! Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature relationship: part_of Orphanet:371183 ! Congenital disorder of glycosylation with cardiac malformation as a major feature relationship: part_of Orphanet:371200 ! Congenital disorder of glycosylation with skin involvement relationship: part_of Orphanet:371212 ! Congenital disorder of glycosylation with deafness as a major feature relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:98558 ! Rare eye disease due to a differentiation anomaly property_value: alternative:term "CHIME syndrome" xsd:string property_value: alternative:term "Coloboma - congenital heart disease - ichthyosiform dermatosis - intellectual deficit - ear anomalies syndrome" xsd:string property_value: alternative:term "Neuroectodermal dysplasia, CHIME type" xsd:string property_value: alternative:term "Neuroectodermal syndrome, Zunich type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Zunich-Kaye syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual deficit, conductive hearing loss and epilepsy." xsd:string [Term] id: Orphanet:348 name: Fructose-1,6-bisphosphatase deficiency xref: ICD10:E74.1 xref: OMIM:229700 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:308463 ! Disorder of fructose metabolism relationship: part_of Orphanet:79177 ! Gluconeogenesis disorder [Term] id: Orphanet:349 name: Fucosidosis xref: ICD10:E77.1 xref: MESH:D005645 xref: OMIM:230000 xref: SNOMED CT:64716005 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139009 ! Developmental anomaly of metabolic origin relationship: part_of Orphanet:217581 ! Lysosomal disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:385 ! Neurodegeneration with brain iron accumulation relationship: part_of Orphanet:79215 ! Oligosaccharidosis relationship: part_of Orphanet:93448 ! Lysosomal storage disease with skeletal involvement property_value: alternative:term "Alpha-L-fucosidase deficiency" xsd:string [Term] id: Orphanet:35 name: Propionic acidemia xref: ICD10:E71.1 xref: MESH:D056693 xref: OMIM:606054 xref: SNOMED CT:124718009 xref: SNOMED CT:399149003 xref: SNOMED CT:69080001 xref: UMLS:C0268579 xref: UMLS:C0311298 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79163 ! Classic organic aciduria property_value: alternative:term "Ketotic glycinemia" xsd:string property_value: alternative:term "Propionyl-CoA carboxylase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Propionic acidemia is an organic aciduria due to propionyl-CoA carboxylase deficiency characterized by onset of manifestations soon after birth including ketoacidotic coma, hyperammonemia and convulsions. Apart from acute metabolic decompensation, the major complications are neurological disorders (central grey nuclei), cardiomyopathies, and acute pancreatitis." xsd:string [Term] id: Orphanet:35061 name: Idiopathic recurrent and disabling cutaneous herpes is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163585 ! Rare viral disease [Term] id: Orphanet:35062 name: Idiopathic infection disseminated by cytomegalovirus is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163585 ! Rare viral disease [Term] id: Orphanet:35063 name: Fulminant viral hepatitis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101939 ! Rare parenchymatous liver disease relationship: part_of Orphanet:163585 ! Rare viral disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV." xsd:string [Term] id: Orphanet:35064 name: Lethal idiopathic viral infection is_a: Orphanet:163585 ! Rare viral disease [Term] id: Orphanet:35065 name: Idiopathic severe pneumococcemia xref: ICD10:A40.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease [Term] id: Orphanet:35066 name: Idiopathic cutaneous and mucosal candidiasis xref: ICD10:B37.2 xref: ICD10:B37.3 xref: ICD10:B37.4 xref: ICD10:B37.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163591 ! Rare mycosis relationship: part_of Orphanet:90077 ! Other acquired skin disease property_value: alternative:term "Idiopathic cutaneous and mucosal candidosis" xsd:string [Term] id: Orphanet:35069 name: Infantile neuroaxonal dystrophy xref: ICD10:G23.0 xref: OMIM:256600 xref: OMIM:610217 xref: SNOMED CT:52713000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:329303 ! PLA2G6-associated neurodegeneration relationship: part_of Orphanet:98497 ! Genetic peripheral neuropathy property_value: alternative:term "INAD" xsd:string property_value: alternative:term "INAD1" xsd:string property_value: alternative:term "Seitelberger disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two." xsd:string [Term] id: Orphanet:35078 name: T-B+ severe combined immunodeficiency due to JAK3 deficiency xref: ICD10:D81.2 xref: OMIM:600802 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:317416 ! T-B+ severe combined immunodeficiency property_value: alternative:term "T-B+ SCID due to JAK3 deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." xsd:string [Term] id: Orphanet:35093 name: Isolated scaphocephaly xref: ICD10:Q75.0 xref: OMIM:123100 xref: OMIM:600775 xref: OMIM:615529 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:139390 ! Isolated craniosynostosis relationship: part_of Orphanet:98684 ! Craniostenosis associated with a strabismus property_value: alternative:term "Isolated dolichocephaly" xsd:string property_value: alternative:term "Non-syndromic sagittal synostosis" xsd:string [Term] id: Orphanet:35098 name: Isolated plagiocephaly xref: ICD10:Q67.3 xref: OMIM:615314 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:139390 ! Isolated craniosynostosis relationship: part_of Orphanet:98684 ! Craniostenosis associated with a strabismus property_value: alternative:term "Non-syndromic unicoronal synostosis" xsd:string property_value: alternative:term "Synostotic plagiocephaly" xsd:string [Term] id: Orphanet:35099 name: Isolated brachycephaly xref: ICD10:Q75.0 xref: OMIM:123100 xref: OMIM:615314 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:139390 ! Isolated craniosynostosis relationship: part_of Orphanet:98684 ! Craniostenosis associated with a strabismus property_value: alternative:term "Non-syndromic bicornal synostosis" xsd:string [Term] id: Orphanet:351 name: Galactosialidosis xref: ICD10:E77.1 xref: MESH:C536411 xref: OMIM:256540 xref: SNOMED CT:35691006 xref: UMLS:C0268233 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79215 ! Oligosaccharidosis relationship: part_of Orphanet:93448 ! Lysosomal storage disease with skeletal involvement relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy relationship: part_of Orphanet:98711 ! Metabolic disease with corneal opacity relationship: part_of Orphanet:98714 ! Metabolic disease with macular cherry-red spot property_value: alternative:term "Goldberg syndrome" xsd:string property_value: alternative:term "Neuraminidase deficiency with beta-galactosidase deficiency" xsd:string [Term] id: Orphanet:35107 name: Desmosterolosis xref: ICD10:Q87.8 xref: OMIM:602398 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79195 ! Sterol biosynthesis disorder relationship: part_of Orphanet:93443 ! Neonatal osteosclerotic dysplasia [Term] id: Orphanet:35120 name: Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency xref: ICD10:D55.3 xref: OMIM:266120 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:79193 ! Disorder of pyrimidine metabolism relationship: part_of Orphanet:98374 ! Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder property_value: alternative:term "P5N deficiency" xsd:string property_value: alternative:term "UMPH1 deficiency" xsd:string property_value: alternative:term "Uridine 5' monophosphate hydrolase deficiency" xsd:string [Term] id: Orphanet:35121 name: Acid phosphatase deficiency xref: ICD10:E83.3 xref: OMIM:200950 xref: SNOMED CT:57863006 xref: UMLS:C0268410 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68366 ! Lysosomal disease [Term] id: Orphanet:35122 name: Congenital sucrase-isomaltase deficiency xref: ICD10:E74.3 xref: MEDDRA:10066387 xref: MESH:C538139 xref: OMIM:222900 xref: SNOMED CT:78373000 xref: UMLS:C1283620 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:104006 ! Congenital intestinal disease due to an enzymatic defect relationship: part_of Orphanet:309001 ! Disorder of carbohydrate absorption and transport property_value: alternative:term "Congenital sucrase-isomaltose malabsorption" xsd:string property_value: alternative:term "Congenital sucrose intolerance" xsd:string property_value: alternative:term "CSID" xsd:string property_value: alternative:term "Disaccharide intolerance" xsd:string [Term] id: Orphanet:35123 name: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency xref: ICD10:E71.3 xref: MESH:C536080 xref: OMIM:300438 xref: SNOMED CT:237998000 xref: UMLS:C0342785 xref: UMLS:C1845517 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182076 ! Syndromic neurometabolic disease with X-linked intellectual deficit relationship: part_of Orphanet:206953 ! Muscular lipidosis relationship: part_of Orphanet:309127 ! 3-hydroxyacyl-CoA dehydrogenase deficiency relationship: part_of Orphanet:79158 ! Cerebral organic aciduria property_value: alternative:term "17b-hydroxysteroid dehydrogenase deficiency type 10" xsd:string property_value: alternative:term "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency" xsd:string property_value: alternative:term "3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency" xsd:string property_value: alternative:term "HSD deficiency" xsd:string property_value: alternative:term "MHBD deficiency" xsd:string property_value: alternative:term "SCHAD deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " gene." xsd:string [Term] id: Orphanet:35125 name: Epidermal nevus syndrome xref: ICD10:Q85.8 xref: MESH:C536114 xref: MESH:D054000 xref: SNOMED CT:239107007 xref: SNOMED CT:25201003 xref: UMLS:C0334082 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:294057 ! Rare nevus relationship: part_of Orphanet:98699 ! Syndromic ichthyosis associated with ocular features property_value: alternative:term "Epidermal hamartoma syndrome" xsd:string [Term] id: Orphanet:35173 name: X-linked dominant chondrodysplasia punctata xref: ICD10:Q77.3 xref: OMIM:302960 xref: SNOMED CT:398719004 xref: SNOMED CT:398958000 xref: SNOMED CT:66924005 xref: UMLS:C0263627 xref: UMLS:C0282102 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:139009 ! Developmental anomaly of metabolic origin relationship: part_of Orphanet:176 ! Non-rhizomelic chondrodysplasia punctata relationship: part_of Orphanet:281210 ! X-linked ichthyosis syndrome relationship: part_of Orphanet:79195 ! Sterol biosynthesis disorder relationship: part_of Orphanet:98648 ! Musculoskeletal disease with cataract relationship: part_of Orphanet:98699 ! Syndromic ichthyosis associated with ocular features property_value: alternative:term "CDPX2" xsd:string property_value: alternative:term "Chondrodystrophia calcificans congenita" xsd:string property_value: alternative:term "Conradi-Hünermann-Happle syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "X-linked dominant chondrodysplasia punctata (CDPX2) is a rare form of skeletal dysplasia primarily affecting the skin, bones and eyes and characterized most commonly by ichthyosis, chondrodysplasia punctata, asymmetric shortening of the limbs, cataracts and short stature." xsd:string [Term] id: Orphanet:352 name: Galactosemia xref: ICD10:E74.2 xref: MEDDRA:10017604 xref: MESH:D005693 xref: OMIM:230200 xref: OMIM:230350 xref: OMIM:230400 xref: SNOMED CT:190745006 xref: UMLS:C0016952 is_a: Orphanet:101940 ! Metabolic liver disease is_a: Orphanet:308467 ! Disorder of galactose metabolism is_a: Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease is_a: Orphanet:95710 ! Non-acquired premature ovarian failure is_a: Orphanet:98644 ! Cataract associated with a metabolic disease is_a: Orphanet:98712 ! Metabolic disease with cataract relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms)." xsd:string [Term] id: Orphanet:352217 name: phosphoinositide-3-kinase, regulatory subunit 1 (alpha) xref: ENSEMBL:ENSG00000145675 xref: GENATLAS:PIK3R1 xref: HGNC:8979 xref: OMIM:171833 xref: REACTOME:P27986 xref: UNIPROTKB/SWISSPROT:P27986 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3163 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! SHORT syndrome relationship: Orphanet:317343 Orphanet:33110 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal agammaglobulinemia property_value: alternative:term "GRB1" xsd:string property_value: alternative:term "p85" xsd:string property_value: alternative:term "p85-ALPHA" xsd:string property_value: symbol "PIK3R1" xsd:string [Term] id: Orphanet:352239 name: CCR4-NOT transcription complex, subunit 3 xref: ENSEMBL:ENSG00000088038 xref: GENATLAS:CNOT3 xref: HGNC:7879 xref: OMIM:604910 xref: REACTOME:O75175 xref: UNIPROTKB/SWISSPROT:O75175 is_a: Orphanet:C010 ! gene relationship: Orphanet:317344 Orphanet:99861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor T-cell acute lymphoblastic leukemia property_value: alternative:term "KIAA0691" xsd:string property_value: alternative:term "LENG2" xsd:string property_value: alternative:term "NOT3" xsd:string property_value: alternative:term "NOT3 (negative regulator of transcription 3, yeast) homolog" xsd:string property_value: alternative:term "NOT3H" xsd:string property_value: symbol "CNOT3" xsd:string [Term] id: Orphanet:352298 name: Genetic muscular channelopathy is_a: Orphanet:183497 ! Genetic neuromuscular disease [Term] id: Orphanet:352301 name: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis is_a: Orphanet:309005 ! Disorder of lipid metabolism [Term] id: Orphanet:352306 name: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement is_a: Orphanet:352301 ! Disorder of phospholipids, sphingolipids and fatty acids biosynthesis [Term] id: Orphanet:352309 name: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement is_a: Orphanet:352301 ! Disorder of phospholipids, sphingolipids and fatty acids biosynthesis [Term] id: Orphanet:352312 name: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement is_a: Orphanet:352301 ! Disorder of phospholipids, sphingolipids and fatty acids biosynthesis [Term] id: Orphanet:352328 name: MEGDEL syndrome xref: ICD10:E71.1 xref: OMIM:614739 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:289902 ! 3-methylglutaconic aciduria relationship: part_of Orphanet:309136 ! Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes relationship: part_of Orphanet:352306 ! Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "3-methylglutaconic aciduria with deafness - encephalopathy - Leigh-like syndrome" xsd:string [Term] id: Orphanet:352333 name: Congenital ichthyosis - intellectual deficit - spastic quadriplegia xref: ICD10:Q80.8 xref: OMIM:614457 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:281238 ! Autosomal ichthyosis syndrome with prominent neurologics signs relationship: part_of Orphanet:352306 ! Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "Congenital ichthyosis - intellectual deficit - spastic tetraplegia" xsd:string [Term] id: Orphanet:352403 name: Spectrin-associated autosomal recessive cerebellar ataxia xref: ICD10:G11.1 xref: OMIM:615386 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:1172 ! Autosomal recessive cerebellar ataxia property_value: alternative:term "Autosomal recessive cerebellar ataxia - cognitive defect" xsd:string property_value: alternative:term "Autosomal recessive spinocerebellar ataxia type 14" xsd:string property_value: alternative:term "SCAR14" xsd:string property_value: alternative:term "SPARCA" xsd:string property_value: alternative:term "SPARCA1" xsd:string property_value: alternative:term "Spectrin-associated autosomal recessive cerebellar ataxia type 1" xsd:string [Term] id: Orphanet:352447 name: Progressive external ophthalmoplegia - myopathy - emaciation xref: ICD10:G71.3 xref: OMIM:615084 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:352456 ! Mitochondrial DNA maintenance syndrome property_value: alternative:term "Mitochondrial DNA maintenance syndrome due to MGME1 deficiency" xsd:string property_value: alternative:term "mtDNA maintenance syndrome due to MGME1 deficiency" xsd:string property_value: alternative:term "PEO - myopathy - emaciation" xsd:string [Term] id: Orphanet:352456 name: Mitochondrial DNA maintenance syndrome is_a: Orphanet:2443 ! Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies property_value: alternative:term "mtDNA maintenance syndrome" xsd:string [Term] id: Orphanet:352470 name: Mitochondrial DNA deletion syndrome with progressive myopathy xref: ICD10:G71.3 xref: OMIM:615156 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206966 ! Mitochondrial myopathy relationship: part_of Orphanet:254807 ! Multiple mitochondrial DNA deletion syndrome property_value: alternative:term "Mitochondrial DNA deletion syndrome with limb-girdle weakness" xsd:string property_value: alternative:term "mtDNA deletion syndrome with progressive myopathy" xsd:string property_value: alternative:term "mtDNA deletion syndromesyndrome with limb-girdle weakness" xsd:string [Term] id: Orphanet:352479 name: Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency xref: ICD10:G71.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102015 ! Autosomal recessive limb-girdle muscular dystrophy relationship: part_of Orphanet:207113 ! Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan relationship: part_of Orphanet:309469 ! Disorder of O-mannosylglycan synthesis relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature property_value: alternative:term "Autosomal recessive LGMD due to ISPD deficiency" xsd:string [Term] id: Orphanet:352487 name: Digital anomalies - intellectual deficit - short stature xref: ICD10:Q87.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:352490 name: Autism spectrum disorder due to AUTS2 deficiency is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:180772 ! Rare disease with autism relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "ASD due to AUTS2 deficiency" xsd:string property_value: alternative:term "AUTS2 syndrome" xsd:string [Term] id: Orphanet:352497 name: Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency xref: OMIM:615528 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:306666 ! Rare parkinsonian syndrome due to neurodegenerative disease relationship: part_of Orphanet:307055 ! Rare parkinsonian syndrome due to genetic neurodegenerative disease [Term] id: Orphanet:352504 name: Levodopa-unresponsive juvenile parkinsonism is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:306666 ! Rare parkinsonian syndrome due to neurodegenerative disease relationship: part_of Orphanet:307055 ! Rare parkinsonian syndrome due to genetic neurodegenerative disease property_value: alternative:term "L-DOPA-unresponsive juvenile parkinsonism" xsd:string [Term] id: Orphanet:352530 name: Intellectual deficit - obesity - brain malformations - facial dysmorphism is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:240371 ! Syndromic obesity property_value: alternative:term "Autosomal recessive intellectual deficit due to TRAPPC9 deficiency" xsd:string [Term] id: Orphanet:352540 name: Oncogenic osteomalacia xref: ICD10:M83.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:68415 ! Rare parathyroid diseases and phosphocalcic metabolism disorder relationship: part_of Orphanet:93419 ! Rare bone disease property_value: alternative:term "Oncogenic hypophosphatemic osteomalacia" xsd:string property_value: alternative:term "TIO" xsd:string property_value: alternative:term "Tumor-induced osteomalacia" xsd:string [Term] id: Orphanet:352561 name: O-6-methylguanine-DNA methyltransferase xref: ENSEMBL:ENSG00000170430 xref: GENATLAS:MGMT xref: HGNC:7059 xref: OMIM:156569 xref: REACTOME:P16455 xref: UNIPROTKB/SWISSPROT:P16455 is_a: Orphanet:C010 ! gene relationship: Orphanet:317347 Orphanet:251576 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gliosarcoma relationship: Orphanet:317347 Orphanet:251579 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Giant cell glioblastoma property_value: symbol "MGMT" xsd:string [Term] id: Orphanet:352563 name: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency xref: ICD10:I42.2 xref: OMIM:615395 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:217587 ! Mitochondrial disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: alternative:term "Combined oxidative phosphorylation defect type 16" xsd:string property_value: alternative:term "COXPD16" xsd:string [Term] id: Orphanet:352577 name: Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency xref: OMIM:615485 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Bainbridge-Roppers syndrome" xsd:string [Term] id: Orphanet:352582 name: Familial infantile myoclonic epilepsy xref: ICD10:G40.3 xref: OMIM:605021 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:166472 ! Monogenic disease with epilepsy relationship: part_of Orphanet:98258 ! Infantile epilepsy syndrome property_value: alternative:term "FIME" xsd:string [Term] id: Orphanet:352587 name: Focal epilepsy - intellectual deficit - cerebro-cerebellar malformation is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:166472 ! Monogenic disease with epilepsy relationship: part_of Orphanet:166478 ! Cerebral malformation with epilepsy property_value: alternative:term "Focal epilepsy - intellectual deficit - dysarthria - ataxia" xsd:string [Term] id: Orphanet:352596 name: Progressive myoclonic epilepsy with dystonia xref: ICD10:G40.3 xref: OMIM:615338 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:166472 ! Monogenic disease with epilepsy relationship: part_of Orphanet:98258 ! Infantile epilepsy syndrome property_value: alternative:term "PMED" xsd:string [Term] id: Orphanet:352609 name: phosphorylase kinase, gamma 1 (muscle) xref: ENSEMBL:ENSG00000164776 xref: GENATLAS:PHKG1 xref: HGNC:8930 xref: IUPHAR:2145 xref: OMIM:172470 xref: REACTOME:Q16816 xref: UNIPROTKB/SWISSPROT:Q16816 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:715 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Glycogen storage disease due to muscle phosphorylase kinase deficiency property_value: alternative:term "PHKG" xsd:string property_value: symbol "PHKG1" xsd:string [Term] id: Orphanet:352613 name: Male infertility due to NANOS1 mutation xref: ICD10:N46 xref: OMIM:615413 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:156619 ! Rare genetic urogenital disease relationship: part_of Orphanet:98048 ! Rare male infertility [Term] id: Orphanet:352629 name: 16q24.1 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262128 ! Partial deletion of the long arm of chromosome 16 relationship: part_of Orphanet:264683 ! Primary interstitial lung disease specific to childhood due to alveolar vascular disorder relationship: part_of Orphanet:264992 ! Genetic interstitial lung disease property_value: alternative:term "Del(16)(q24.1)" xsd:string property_value: alternative:term "Monosomy 16q24.1" xsd:string [Term] id: Orphanet:352636 name: Phalangeal microgeodic syndrome xref: ICD10:M89.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93449 ! Primary osteolysis property_value: alternative:term "Phalangeal acro-osteolysis" xsd:string [Term] id: Orphanet:352641 name: Autosomal recessive cerebellar ataxia with late-onset spasticity xref: ICD10:G11.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79225 ! Sphingolipidosis relationship: part_of Orphanet:98096 ! Autosomal recessive metabolic cerebellar ataxia property_value: alternative:term "Autosomal recessive cerebellar ataxia due to GBA2 deficiency" xsd:string [Term] id: Orphanet:352646 name: protein-O-mannose kinase xref: ENSEMBL:ENSG00000185900 xref: HGNC:26267 xref: OMIM:615247 xref: UNIPROTKB/SWISSPROT:Q9H5K3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:899 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Walker-Warburg syndrome property_value: alternative:term "FLJ23356" xsd:string property_value: alternative:term "Protein kinase-like protein SgK196" xsd:string property_value: alternative:term "SGK196" xsd:string property_value: alternative:term "Sugen kinase 196" xsd:string property_value: symbol "POMK" xsd:string [Term] id: Orphanet:352649 name: Brain dopamine-serotonin vesicular transport disease is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79169 ! Disorder of neurotransmitter metabolism and transport relationship: part_of Orphanet:98203 ! Combined dystonia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances." xsd:string [Term] id: Orphanet:352654 name: Early-onset progressive neurodegeneration - blindness - ataxia - spasticity xref: OMIM:615491 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:98677 ! Autosomal recessive syndromic optic atrophy [Term] id: Orphanet:352657 name: Hereditary benign intraepithelial dyskeratosis xref: ICD10:Q82.8 xref: OMIM:127600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98625 ! Superficial corneal dystrophy property_value: alternative:term "HBID" xsd:string property_value: alternative:term "Hereditary benign corneal intraepithelial dyskeratosis" xsd:string [Term] id: Orphanet:352662 name: Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis xref: OMIM:615225 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98352 ! Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature relationship: part_of Orphanet:98625 ! Superficial corneal dystrophy [Term] id: Orphanet:352665 name: 9q21 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:262074 ! Partial monosomy of the long arm of chromosome 9 property_value: alternative:term "Del(9)(q21)" xsd:string [Term] id: Orphanet:352670 name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type F xref: ICD10:G60.0 xref: OMIM:615185 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90114 ! Autosomal dominant intermediate Charcot-Marie-Tooth disease property_value: alternative:term "CMTDIF" xsd:string [Term] id: Orphanet:352675 name: X-linked Charcot-Marie-Tooth disease type 6 xref: ICD10:G60.0 xref: OMIM:300905 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:64747 ! X-linked Charcot-Marie-Tooth disease property_value: alternative:term "CMT6X" xsd:string property_value: alternative:term "CMTX6" xsd:string [Term] id: Orphanet:352682 name: Cobblestone lissencephaly without muscular or ocular involvement xref: ICD10:Q04.3 xref: OMIM:615191 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:51577 ! Cobblestone lissencephaly property_value: alternative:term "Cobblestone lissencephaly without muscular or eye involvement" xsd:string property_value: alternative:term "Lissencephaly type 2 without muscular or eye involvement" xsd:string property_value: alternative:term "Lissencephaly type 2 without muscular or ocular involvement" xsd:string [Term] id: Orphanet:352687 name: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies is_a: Orphanet:370953 ! Congenital muscular dystrophy due to dystroglycanopathy is_a: Orphanet:51577 ! Cobblestone lissencephaly property_value: alternative:term "Lissencephaly type 2 with muscular and ocular involvement" xsd:string property_value: alternative:term "MDDGA" xsd:string [Term] id: Orphanet:352709 name: CLN13 disease xref: ICD10:E75.4 xref: OMIM:615362 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79262 ! Adult neuronal ceroid lipofuscinosis [Term] id: Orphanet:352712 name: Facial dysmorphism - immunodeficiency - livedo - short stature xref: OMIM:615139 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139021 ! Malformation syndrome with short stature relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:183570 ! Genetic malformation syndrome with short stature relationship: part_of Orphanet:331217 ! Other immunodeficiency syndrome due to defects in adaptive immunity property_value: alternative:term "FILS syndrome" xsd:string [Term] id: Orphanet:352718 name: Progressive retinal dystrophy due to retinol transport defect xref: ICD10:H35.5 xref: OMIM:615147 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309833 ! Disorder of other vitamins and cofactors metabolism and transport relationship: part_of Orphanet:71862 ! Retinal dystrophy property_value: alternative:term "Retinol dystrophy-iris coloboma-comedogenic acne syndrome" xsd:string [Term] id: Orphanet:352723 name: Attenuated Chédiak-Higashi syndrome xref: ICD10:E70.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:207015 ! Rare hereditary disease with peripheral neuropathy property_value: alternative:term "Atypical Chédiak-Higashi syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder." xsd:string [Term] id: Orphanet:352728 name: Disorder of melanin metabolism is_a: Orphanet:79062 ! Disorder of amino acid and other organic acid metabolism [Term] id: Orphanet:352731 name: Oculocutaneous albinism type 1 xref: ICD10:E70.3 xref: OMIM:203100 xref: OMIM:606952 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:55 ! Oculocutaneous albinism property_value: alternative:term "OCA1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs (see this term) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) (see these terms)." xsd:string [Term] id: Orphanet:352734 name: Minimal pigment oculocutaneous albinism type 1 xref: ICD10:E70.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:352731 ! Oculocutaneous albinism type 1 property_value: alternative:term "MP OCA type 1" xsd:string property_value: alternative:term "OCA1-MP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 (see this term) with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi." xsd:string [Term] id: Orphanet:352737 name: Temperature-sensitive oculocutaneous albinism type 1 xref: ICD10:E70.3 xref: OMIM:606952 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:352731 ! Oculocutaneous albinism type 1 property_value: alternative:term "OCA1-TS" xsd:string property_value: alternative:term "TS OCA type 1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 (see this term) characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)." xsd:string [Term] id: Orphanet:352740 name: Ocular albinism with congenital sensorineural deafness xref: OMIM:103470 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:284804 ! Ocular albinism property_value: alternative:term "Waardenburg syndrome type 2 with ocular albinism" xsd:string [Term] id: Orphanet:352745 name: Oculocutaneous albinism type 7 xref: ICD10:E70.3 xref: OMIM:615179 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:55 ! Oculocutaneous albinism property_value: alternative:term "OCA7" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination." xsd:string [Term] id: Orphanet:352763 name: Scleredema xref: ICD10:M34.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:90077 ! Other acquired skin disease property_value: alternative:term "Buschke scleredema" xsd:string [Term] id: Orphanet:353 name: Autosomal recessive limb-girdle muscular dystrophy type 2C xref: ICD10:G71.0 xref: OMIM:253700 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:102015 ! Autosomal recessive limb-girdle muscular dystrophy relationship: part_of Orphanet:207067 ! Qualitative or quantitative defects of gamma-sarcoglycan relationship: part_of Orphanet:217610 ! Neuromuscular disease with dilated cardiomyopathy property_value: alternative:term "Gamma-sarcoglycanopathy" xsd:string property_value: alternative:term "LGMD2C" xsd:string property_value: alternative:term "Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal recessive limb girdle muscular dystrophy type 2C (LGMD2C) is a limb girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness, calf hypertrophy, diaphragmatic weakness, and variable cardiac abnormalities. Ambulation may be lost by the age 12." xsd:string [Term] id: Orphanet:353211 name: anthrax toxin receptor 1 xref: ENSEMBL:ENSG00000169604 xref: GENATLAS:ANTXR1 xref: HGNC:21014 xref: OMIM:606410 xref: UNIPROTKB/SWISSPROT:Q9H6X2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2067 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! GAPO syndrome relationship: Orphanet:317345 Orphanet:91415 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial capillary hemangioma property_value: alternative:term "Anthrax toxin receptor" xsd:string property_value: alternative:term "ATR" xsd:string property_value: alternative:term "FLJ10601" xsd:string property_value: alternative:term "FLJ21776" xsd:string property_value: alternative:term "TEM8" xsd:string property_value: alternative:term "Tumor endothelial marker 8 precursor" xsd:string property_value: symbol "ANTXR1" xsd:string [Term] id: Orphanet:353217 name: Epileptic encephalopathy with global cerebral demyelination xref: ICD10:G31.8 xref: OMIM:612949 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:254830 ! Mitochondrial substrate carrier disorder relationship: part_of Orphanet:98257 ! Neonatal epilepsy syndrome property_value: alternative:term "Mitochondrial aspartate-glutamate carrier 1 deficiency" xsd:string [Term] id: Orphanet:353220 name: Familial primary localized cutaneous amyloidosis xref: ICD10:E85.4+ xref: ICD10:L99.0* xref: OMIM:105250 xref: OMIM:613955 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:137807 ! Primary cutaneous amyloidosis relationship: part_of Orphanet:183472 ! Genetic dermis disorder property_value: alternative:term "FPLCA" xsd:string [Term] id: Orphanet:353231 name: family with sequence similarity 13, member A xref: ENSEMBL:ENSG00000138640 xref: GENATLAS:FAM13A xref: HGNC:19367 xref: OMIM:613299 xref: REACTOME:O94988 xref: UNIPROTKB/SWISSPROT:O94988 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:2032 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic pulmonary fibrosis property_value: alternative:term "ARHGAP48" xsd:string property_value: alternative:term "FAM13A1" xsd:string property_value: alternative:term "Family with sequence similarity 13, member A1" xsd:string property_value: alternative:term "KIAA0914" xsd:string property_value: symbol "FAM13A" xsd:string [Term] id: Orphanet:353238 name: oligonucleotide/oligosaccharide-binding fold containing 1 xref: ENSEMBL:ENSG00000107960 xref: GENATLAS:OBFC1 xref: HGNC:26200 xref: OMIM:613128 xref: UNIPROTKB/SWISSPROT:Q9H668 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:2032 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic pulmonary fibrosis property_value: alternative:term "bA541N10.2" xsd:string property_value: alternative:term "FLJ22559" xsd:string property_value: symbol "OBFC1" xsd:string [Term] id: Orphanet:353241 name: ATPase, class VI, type 11A xref: ENSEMBL:ENSG00000068650 xref: GENATLAS:ATP11A xref: HGNC:13552 xref: OMIM:605868 xref: REACTOME:P98196 xref: UNIPROTKB/SWISSPROT:P98196 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:2032 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic pulmonary fibrosis property_value: alternative:term "ATPase, Class VI, type 11A" xsd:string property_value: alternative:term "ATPIH" xsd:string property_value: alternative:term "ATPIS" xsd:string property_value: alternative:term "KIAA1021" xsd:string property_value: alternative:term "Phospholipid-translocating ATPase" xsd:string property_value: alternative:term "Potential phospholipid-transporting ATPase IH" xsd:string property_value: symbol "ATP11A" xsd:string [Term] id: Orphanet:353250 name: dipeptidyl-peptidase 9 xref: ENSEMBL:ENSG00000142002 xref: GENATLAS:DPP9 xref: HGNC:18648 xref: IUPHAR:2357 xref: OMIM:608258 xref: UNIPROTKB/SWISSPROT:Q86TI2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:2032 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic pulmonary fibrosis property_value: alternative:term "Dipeptidylpeptidase 9" xsd:string property_value: symbol "DPP9" xsd:string [Term] id: Orphanet:353277 name: Rubinstein-Taybi syndrome due to CREBBP mutations xref: ICD10:Q87.2 xref: OMIM:180849 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:783 ! Rubinstein-Taybi syndrome [Term] id: Orphanet:353281 name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion xref: ICD10:Q87.2 xref: OMIM:610543 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:783 ! Rubinstein-Taybi syndrome [Term] id: Orphanet:353284 name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency xref: ICD10:Q87.2 xref: OMIM:613684 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:783 ! Rubinstein-Taybi syndrome [Term] id: Orphanet:353298 name: Roifman syndrome xref: OMIM:300258 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:331244 ! Other immunodeficiency syndrome with predominantly antibody defects relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Spondyloepiphyseal dysplasia - retinal dystrophy - immunodeficiency" xsd:string [Term] id: Orphanet:353308 name: Pyruvate carboxylase deficiency, infantile type xref: ICD10:E74.4 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:3008 ! Pyruvate carboxylase deficiency property_value: alternative:term "Pyruvate carboxylase deficiency type A" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency (see this term) characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course." xsd:string [Term] id: Orphanet:353314 name: Pyruvate carboxylase deficiency, severe neonatal type xref: ICD10:E74.4 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:3008 ! Pyruvate carboxylase deficiency property_value: alternative:term "Pyruvate carboxylase deficiency type B" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency (see this term) characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy." xsd:string [Term] id: Orphanet:353320 name: Pyruvate carboxylase deficiency, benign type xref: ICD10:E74.4 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:3008 ! Pyruvate carboxylase deficiency property_value: alternative:term "Pyruvate carboxylase deficiency type C" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency (see this term) characterized by episodic metabolic acidosis and normal or mildly delayed neurological development." xsd:string [Term] id: Orphanet:353327 name: Congenital myasthenic syndromes with glycosylation defect xref: ICD10:G70.2 xref: OMIM:610542 xref: OMIM:614750 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371047 ! Congenital disorder of glycosylation with neurological involvement relationship: part_of Orphanet:590 ! Congenital myasthenic syndromes [Term] id: Orphanet:353330 name: protection of telomeres 1 xref: ENSEMBL:ENSG00000128513 xref: GENATLAS:POT1 xref: HGNC:17284 xref: OMIM:606478 xref: REACTOME:Q9NUX5 xref: UNIPROTKB/SWISSPROT:Q9NUX5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317344 Orphanet:67038 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! B-cell chronic lymphocytic leukemia property_value: alternative:term "DKFZp586D211" xsd:string property_value: alternative:term "hPot1" xsd:string property_value: alternative:term "Protection of telomeres 1 homolog (S. pombe)" xsd:string property_value: symbol "POT1" xsd:string [Term] id: Orphanet:353334 name: Congenital retinal arteriovenous communication xref: ICD10:Q14.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101949 ! Rare acquired eye disease relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease property_value: alternative:term "Congenital arteriovenous anastomoses of the retina" xsd:string property_value: alternative:term "Congenital arteriovenous communication of the retina" xsd:string property_value: alternative:term "Congenital retinal arteriovenous anastomoses" xsd:string [Term] id: Orphanet:353344 name: Idiopathic macular telangiectasia type 1 xref: ICD10:H35.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101949 ! Rare acquired eye disease relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease property_value: alternative:term "Aneurysmal telangiectasia" xsd:string property_value: alternative:term "Visible and exudative idiopathic juxtafoveolar retinal telangiectasis" xsd:string [Term] id: Orphanet:353351 name: Idiopathic macular telangiectasia type 3 xref: ICD10:H35.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101949 ! Rare acquired eye disease relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease property_value: alternative:term "Occlusive idiopathic juxtafoveolar retinal telangiectasis" xsd:string [Term] id: Orphanet:353356 name: Vasoproliferative tumor of the retina is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101949 ! Rare acquired eye disease relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease property_value: alternative:term "Retinal vasoproliferative tumor" xsd:string property_value: alternative:term "Vasoproliferative tumor of the ocular fundus" xsd:string property_value: alternative:term "VPTR" xsd:string [Term] id: Orphanet:353369 name: STAM binding protein xref: ENSEMBL:ENSG00000124356 xref: GENATLAS:STAMBP xref: HGNC:16950 xref: OMIM:606247 xref: UNIPROTKB/SWISSPROT:O95630 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:294016 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microcephaly-capillary malformation syndrome property_value: alternative:term "AMSH" xsd:string property_value: symbol "STAMBP" xsd:string [Term] id: Orphanet:353372 name: DEP domain containing 5 xref: ENSEMBL:ENSG00000100150 xref: GENATLAS:DEPDC5 xref: HGNC:18423 xref: OMIM:614191 xref: UNIPROTKB/SWISSPROT:O75140 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101046 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant epilepsy with auditory features relationship: Orphanet:317343 Orphanet:98784 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nocturnal frontal lobe epilepsy relationship: Orphanet:317343 Orphanet:98820 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial focal epilepsy with variable foci property_value: alternative:term "DEP.5" xsd:string property_value: alternative:term "KIAA0645" xsd:string property_value: symbol "DEPDC5" xsd:string [Term] id: Orphanet:353445 name: glypican 1 xref: ENSEMBL:ENSG00000063660 xref: GENATLAS:GPC1 xref: HGNC:4449 xref: OMIM:600395 xref: REACTOME:P35052 xref: UNIPROTKB/SWISSPROT:P35052 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:30391 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Biliary atresia property_value: alternative:term "Glypican" xsd:string property_value: alternative:term "Glypican proteoglycan 1" xsd:string property_value: symbol "GPC1" xsd:string [Term] id: Orphanet:353460 name: tetratricopeptide repeat domain 7A xref: ENSEMBL:ENSG00000068724 xref: GENATLAS:TTC7A xref: HGNC:19750 xref: OMIM:609332 xref: UNIPROTKB/SWISSPROT:Q9ULT0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2300 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Multiple intestinal atresia property_value: alternative:term "KIAA1140" xsd:string property_value: alternative:term "Tetratricopeptide repeat domain 7" xsd:string property_value: alternative:term "TTC7" xsd:string property_value: symbol "TTC7A" xsd:string [Term] id: Orphanet:353497 name: guanine nucleotide binding protein (G protein), q polypeptide xref: ENSEMBL:ENSG00000156052 xref: GENATLAS:GNAQ xref: HGNC:4390 xref: OMIM:600998 xref: REACTOME:P50148 xref: UNIPROTKB/SWISSPROT:P50148 is_a: Orphanet:C010 ! gene relationship: Orphanet:317344 Orphanet:3205 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Sturge-Weber syndrome relationship: Orphanet:317344 Orphanet:624 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial multiple nevi flammei property_value: alternative:term "G-ALPHA-q" xsd:string property_value: alternative:term "GAQ" xsd:string property_value: symbol "GNAQ" xsd:string [Term] id: Orphanet:353516 name: topoisomerase (DNA) II alpha 170kDa xref: ENSEMBL:ENSG00000131747 xref: GENATLAS:TOP2A xref: HGNC:11989 xref: IUPHAR:2637 xref: OMIM:126430 xref: REACTOME:P11388 xref: UNIPROTKB/SWISSPROT:P11388 is_a: Orphanet:C010 ! gene relationship: Orphanet:317347 Orphanet:635 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Neuroblastoma property_value: alternative:term "TOP2" xsd:string property_value: alternative:term "Topoisomerase (DNA) II alpha (170kD)" xsd:string property_value: symbol "TOP2A" xsd:string [Term] id: Orphanet:353524 name: KIAA1549 xref: ENSEMBL:ENSG00000122778 xref: GENATLAS:KIAA1549 xref: HGNC:22219 xref: OMIM:613344 xref: UNIPROTKB/SWISSPROT:Q9HCM3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:251612 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pilocytic astrocytoma property_value: symbol "KIAA1549" xsd:string [Term] id: Orphanet:353576 name: ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle xref: ENSEMBL:ENSG00000152234 xref: GENATLAS:ATP5A1 xref: HGNC:823 xref: OMIM:164360 xref: REACTOME:P25705 xref: UNIPROTKB/SWISSPROT:P25705 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:254913 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Isolated ATP synthase deficiency property_value: alternative:term "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle" xsd:string property_value: alternative:term "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2" xsd:string property_value: alternative:term "ATP5A" xsd:string property_value: alternative:term "ATP5AL2" xsd:string property_value: alternative:term "ATPM" xsd:string property_value: alternative:term "hATP1" xsd:string property_value: alternative:term "OMR" xsd:string property_value: alternative:term "ORM" xsd:string property_value: symbol "ATP5A1" xsd:string [Term] id: Orphanet:353699 name: SLIT and NTRK-like family, member 6 xref: ENSEMBL:ENSG00000184564 xref: GENATLAS:SLITRK6 xref: HGNC:23503 xref: OMIM:609681 xref: UNIPROTKB/SWISSPROT:Q9H5Y7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363396 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! High myopia-sensorineural deafness syndrome relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "FLJ22774" xsd:string property_value: symbol "SLITRK6" xsd:string [Term] id: Orphanet:353728 name: zinc finger, C4H2 domain containing xref: ENSEMBL:ENSG00000126970 xref: GENATLAS:ZC4H2 xref: HGNC:24931 xref: OMIM:300897 xref: UNIPROTKB/SWISSPROT:Q9NQZ6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3454 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intellectual disability-developmental delay-contractures syndrome property_value: alternative:term "HCA127" xsd:string property_value: alternative:term "KIAA1166" xsd:string property_value: alternative:term "Wieacker-Wolff syndrome" xsd:string property_value: alternative:term "WWS" xsd:string property_value: symbol "ZC4H2" xsd:string [Term] id: Orphanet:353734 name: interleukin 17 receptor D xref: ENSEMBL:ENSG00000144730 xref: GENATLAS:IL17RD xref: HGNC:17616 xref: OMIM:606807 xref: UNIPROTKB/SWISSPROT:Q8NFM7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kallmann syndrome property_value: alternative:term "FLJ35755" xsd:string property_value: alternative:term "IL-17RD" xsd:string property_value: alternative:term "IL17RLM" xsd:string property_value: alternative:term "SEF" xsd:string property_value: symbol "IL17RD" xsd:string [Term] id: Orphanet:353741 name: fibroblast growth factor 17 xref: ENSEMBL:ENSG00000158815 xref: GENATLAS:FGF17 xref: HGNC:3673 xref: OMIM:603725 xref: REACTOME:O60258 xref: UNIPROTKB/SWISSPROT:O60258 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:432 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Normosmic congenital hypogonadotropic hypogonadism relationship: Orphanet:317343 Orphanet:478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kallmann syndrome property_value: alternative:term "FGF-13" xsd:string property_value: symbol "FGF17" xsd:string [Term] id: Orphanet:353744 name: dual specificity phosphatase 6 xref: ENSEMBL:ENSG00000139318 xref: GENATLAS:DUSP6 xref: HGNC:3072 xref: OMIM:602748 xref: REACTOME:Q16828 xref: UNIPROTKB/SWISSPROT:Q16828 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:432 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Normosmic congenital hypogonadotropic hypogonadism relationship: Orphanet:317343 Orphanet:478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kallmann syndrome property_value: alternative:term "MKP-3" xsd:string property_value: alternative:term "PYST1" xsd:string property_value: symbol "DUSP6" xsd:string [Term] id: Orphanet:353749 name: sprouty homolog 4 (Drosophila) xref: ENSEMBL:ENSG00000187678 xref: GENATLAS:SPRY4 xref: HGNC:15533 xref: OMIM:607984 xref: UNIPROTKB/SWISSPROT:Q9C004 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:432 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Normosmic congenital hypogonadotropic hypogonadism relationship: Orphanet:317343 Orphanet:478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kallmann syndrome relationship: Orphanet:317345 Orphanet:363494 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Testicular non seminomatous germ cell tumor relationship: Orphanet:317345 Orphanet:842 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Testicular seminomatous germ cell tumor property_value: symbol "SPRY4" xsd:string [Term] id: Orphanet:353751 name: fibronectin leucine rich transmembrane protein 3 xref: ENSEMBL:ENSG00000125848 xref: GENATLAS:FLRT3 xref: HGNC:3762 xref: OMIM:604808 xref: UNIPROTKB/SWISSPROT:Q9NZU0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:478 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Kallmann syndrome property_value: symbol "FLRT3" xsd:string [Term] id: Orphanet:353890 name: toll-like receptor 4 xref: ENSEMBL:ENSG00000136869 xref: GENATLAS:TLR4 xref: HGNC:11850 xref: OMIM:603030 xref: REACTOME:O00206 xref: UNIPROTKB/SWISSPROT:O00206 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:117 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Behçet disease property_value: alternative:term "ARMD10" xsd:string property_value: alternative:term "CD284" xsd:string property_value: alternative:term "hToll" xsd:string property_value: alternative:term "TLR-4" xsd:string property_value: symbol "TLR4" xsd:string [Term] id: Orphanet:353921 name: chloride channel accessory 4 xref: ENSEMBL:ENSG00000016602 xref: GENATLAS:CLCA4 xref: HGNC:2018 xref: UNIPROTKB/SWISSPROT:Q14CN2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317346 Orphanet:586 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cystic fibrosis property_value: alternative:term "CaCC2" xsd:string property_value: alternative:term "Chloride channel regulator 4" xsd:string property_value: alternative:term "Chloride channel, calcium activated, family member 4" xsd:string property_value: symbol "CLCA4" xsd:string [Term] id: Orphanet:354 name: GM1 gangliosidosis xref: ICD10:E75.1 xref: MESH:D016537 xref: OMIM:230500 xref: OMIM:230600 xref: OMIM:230650 xref: SNOMED CT:238025006 xref: SNOMED CT:32917001 xref: UMLS:C0085131 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:309144 ! Gangliosidosis relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:93448 ! Lysosomal storage disease with skeletal involvement relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy relationship: part_of Orphanet:98692 ! Nervous system anomaly with eye involvement relationship: part_of Orphanet:98714 ! Metabolic disease with macular cherry-red spot property_value: alternative:term "Beta-galactosidase-1 deficiency" xsd:string property_value: alternative:term "GLB1 deficiency" xsd:string property_value: alternative:term "Landing disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features." xsd:string [Term] id: Orphanet:354069 name: chromosome 10 open reading frame 11 xref: ENSEMBL:ENSG00000148655 xref: GENATLAS:C10orf11 xref: HGNC:23405 xref: OMIM:614537 xref: UNIPROTKB/SWISSPROT:Q9H2I8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352745 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oculocutaneous albinism type 7 property_value: alternative:term "CDA017" xsd:string property_value: alternative:term "OCA7" xsd:string property_value: alternative:term "oculocutaneous albinism 7, autosomal recessive" xsd:string property_value: symbol "C10ORF11" xsd:string [Term] id: Orphanet:354117 name: SH3 and cysteine rich domain 3 xref: ENSEMBL:ENSG00000185482 xref: GENATLAS:STAC3 xref: HGNC:28423 xref: OMIM:615521 xref: UNIPROTKB/SWISSPROT:Q96MF2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:168572 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Native American myopathy property_value: alternative:term "MGC2793" xsd:string property_value: symbol "STAC3" xsd:string [Term] id: Orphanet:354122 name: mitochondrial genome maintenance exonuclease 1 xref: ENSEMBL:ENSG00000125871 xref: GENATLAS:MGME1 xref: HGNC:16205 xref: OMIM:615076 xref: UNIPROTKB/SWISSPROT:Q9BQP7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352447 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive external ophthalmoplegia - myopathy - emaciation property_value: alternative:term "bA504H3.4" xsd:string property_value: alternative:term "C20orf72" xsd:string property_value: alternative:term "Chromosome 20 open reading frame 72" xsd:string property_value: alternative:term "DDK1" xsd:string property_value: symbol "MGME1" xsd:string [Term] id: Orphanet:355 name: Gaucher disease xref: ICD10:E75.2 xref: MEDDRA:10018048 xref: MESH:D005776 xref: OMIM:230800 xref: OMIM:230900 xref: OMIM:231000 xref: OMIM:231005 xref: OMIM:608013 xref: OMIM:610539 xref: SNOMED CT:190794006 xref: UMLS:C0017205 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:217638 ! Lysosomal disease with restrictive cardiomyopathy relationship: part_of Orphanet:79225 ! Sphingolipidosis relationship: part_of Orphanet:98688 ! Oculomotor apraxia or related oculomotor disease relationship: part_of Orphanet:98711 ! Metabolic disease with corneal opacity property_value: alternative:term "Acid beta-glucosidase deficiency" xsd:string property_value: alternative:term "Glucocerebrosidase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease) (see these terms)." xsd:string [Term] id: Orphanet:355473 name: cerebellin 2 precursor xref: ENSEMBL:ENSG00000141668 xref: GENATLAS:CBLN2 xref: HGNC:1544 xref: OMIM:600433 xref: UNIPROTKB/SWISSPROT:Q8IUK8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:275766 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic pulmonary arterial hypertension relationship: Orphanet:317345 Orphanet:275777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Heritable pulmonary arterial hypertension property_value: symbol "CBLN2" xsd:string [Term] id: Orphanet:355492 name: ankyrin repeat domain 55 xref: ENSEMBL:ENSG00000164512 xref: GENATLAS:ANKRD55 xref: HGNC:25681 xref: OMIM:615189 xref: UNIPROTKB/SWISSPROT:Q3KP44 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:85408 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Juvenile rheumatoid factor-negative polyarthritis relationship: Orphanet:317345 Orphanet:85410 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Oligoarticular juvenile arthritis property_value: alternative:term "FLJ11795" xsd:string property_value: symbol "ANKRD55" xsd:string [Term] id: Orphanet:355507 name: interleukin 2 receptor, beta xref: ENSEMBL:ENSG00000100385 xref: GENATLAS:IL2RB xref: HGNC:6009 xref: OMIM:146710 xref: REACTOME:P14784 xref: UNIPROTKB/SWISSPROT:P14784 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:85408 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Juvenile rheumatoid factor-negative polyarthritis relationship: Orphanet:317345 Orphanet:85410 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Oligoarticular juvenile arthritis property_value: alternative:term "CD122" xsd:string property_value: alternative:term "IL15RB" xsd:string property_value: alternative:term "Interleukin 15 receptor, beta" xsd:string property_value: symbol "IL2RB" xsd:string [Term] id: Orphanet:356 name: Gerstmann-Straussler-Scheinker syndrome xref: ICD10:A81.8 xref: MESH:D016098 xref: OMIM:137440 xref: SNOMED CT:67155006 xref: UMLS:C0017495 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:158124 ! Genetic dementia relationship: part_of Orphanet:280400 ! Inherited prion disease property_value: alternative:term "Subacute spongiform encephalopathy, Gerstmann-Straussler type" xsd:string [Term] id: Orphanet:356106 name: Rho GDP dissociation inhibitor (GDI) alpha xref: ENSEMBL:ENSG00000141522 xref: GENATLAS:ARHGDIA xref: HGNC:678 xref: OMIM:601925 xref: REACTOME:P52565 xref: UNIPROTKB/SWISSPROT:P52565 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93217 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis property_value: alternative:term "GDIA1" xsd:string property_value: alternative:term "RHOGDI" xsd:string property_value: symbol "ARHGDIA" xsd:string [Term] id: Orphanet:35612 name: Nanophthalmia xref: ICD10:Q11.2 xref: OMIM:600165 xref: OMIM:609549 xref: OMIM:611897 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2542 ! Isolated anophthalmia - microphthalmia [Term] id: Orphanet:356123 name: DnaJ (Hsp40) homolog, subfamily C, member 6 xref: ENSEMBL:ENSG00000116675 xref: GENATLAS:DNAJC6 xref: HGNC:15469 xref: OMIM:608375 xref: REACTOME:O75061 xref: UNIPROTKB/SWISSPROT:O75061 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352497 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency relationship: Orphanet:317343 Orphanet:352504 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Levodopa-unresponsive juvenile parkinsonism property_value: alternative:term "auxilin" xsd:string property_value: alternative:term "KIAA0473" xsd:string property_value: symbol "DNAJC6" xsd:string [Term] id: Orphanet:356136 name: mitochondrial ribosomal protein L44 xref: ENSEMBL:ENSG00000135900 xref: GENATLAS:MRPL44 xref: HGNC:16650 xref: OMIM:611849 xref: UNIPROTKB/SWISSPROT:Q9H9J2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352563 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency property_value: alternative:term "39S ribosomal protein L44, mitochondrial" xsd:string property_value: alternative:term "FLJ12701" xsd:string property_value: alternative:term "FLJ13990" xsd:string property_value: symbol "MRPL44" xsd:string [Term] id: Orphanet:356141 name: additional sex combs like 3 (Drosophila) xref: ENSEMBL:ENSG00000141431 xref: GENATLAS:ASXL3 xref: HGNC:29357 xref: OMIM:615115 xref: UNIPROTKB/SWISSPROT:Q9C0F0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352577 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency property_value: alternative:term "KIAA1713" xsd:string property_value: symbol "ASXL3" xsd:string [Term] id: Orphanet:356158 name: nanos homolog 1 (Drosophila) xref: ENSEMBL:ENSG00000188613 xref: GENATLAS:NANOS1 xref: HGNC:23044 xref: OMIM:608226 xref: UNIPROTKB/SWISSPROT:Q8WY41 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352613 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Male infertility due to NANOS1 mutation property_value: alternative:term "NOS1" xsd:string property_value: symbol "NANOS1" xsd:string [Term] id: Orphanet:356164 name: solute carrier family 18 (vesicular monoamine transporter), member 2 xref: ENSEMBL:ENSG00000165646 xref: GENATLAS:SLC18A2 xref: HGNC:10935 xref: IUPHAR:1012 xref: OMIM:193001 xref: REACTOME:Q05940 xref: UNIPROTKB/SWISSPROT:Q05940 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352649 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Brain dopamine-serotonin vesicular transport disease property_value: alternative:term "Solute carrier family 18 (vesicular monoamine), member 2" xsd:string property_value: alternative:term "SVAT" xsd:string property_value: alternative:term "SVMT" xsd:string property_value: alternative:term "VMAT2" xsd:string property_value: symbol "SLC18A2" xsd:string [Term] id: Orphanet:356169 name: guanine nucleotide binding protein (G protein), beta polypeptide 4 xref: ENSEMBL:ENSG00000114450 xref: GENATLAS:GNB4 xref: HGNC:20731 xref: OMIM:610863 xref: REACTOME:Q9HAV0 xref: UNIPROTKB/SWISSPROT:Q9HAV0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352670 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant intermediate Charcot-Marie-Tooth disease type F property_value: symbol "GNB4" xsd:string [Term] id: Orphanet:356172 name: pyruvate dehydrogenase kinase, isozyme 3 xref: ENSEMBL:ENSG00000067992 xref: GENATLAS:PDK3 xref: HGNC:8811 xref: IUPHAR:2143 xref: OMIM:300906 xref: REACTOME:Q15120 xref: UNIPROTKB/SWISSPROT:Q15120 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352675 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! X-linked Charcot-Marie-Tooth disease type 6 property_value: alternative:term "Pyruvate dehydrogenase kinase, isoenzyme 3" xsd:string property_value: symbol "PDK3" xsd:string [Term] id: Orphanet:356176 name: laminin, beta 1 xref: ENSEMBL:ENSG00000091136 xref: GENATLAS:LAMB1 xref: HGNC:6486 xref: OMIM:150240 xref: REACTOME:P07942 xref: UNIPROTKB/SWISSPROT:P07942 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352682 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cobblestone lissencephaly without muscular or ocular involvement property_value: alternative:term "CLM" xsd:string property_value: alternative:term "Cutis laxa with marfanoid phenotype" xsd:string property_value: symbol "LAMB1" xsd:string [Term] id: Orphanet:356180 name: cathepsin F xref: ENSEMBL:ENSG00000174080 xref: GENATLAS:CTSF xref: HGNC:2531 xref: IUPHAR:2347 xref: OMIM:603539 xref: REACTOME:Q9UBX1 xref: UNIPROTKB/SWISSPROT:Q9UBX1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352709 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CLN13 disease property_value: alternative:term "CATSF" xsd:string property_value: alternative:term "CLN13" xsd:string property_value: symbol "CTSF" xsd:string [Term] id: Orphanet:356190 name: polymerase (DNA directed), epsilon, catalytic subunit xref: ENSEMBL:ENSG00000177084 xref: GENATLAS:POLE xref: HGNC:9177 xref: OMIM:174762 xref: REACTOME:Q07864 xref: UNIPROTKB/SWISSPROT:Q07864 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352712 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Facial dysmorphism - immunodeficiency - livedo - short stature property_value: alternative:term "DNA polymerase epsilon catalytic subunit A" xsd:string property_value: alternative:term "POLE1" xsd:string property_value: alternative:term "Polymerase (DNA directed), epsilon" xsd:string property_value: symbol "POLE" xsd:string [Term] id: Orphanet:356203 name: retinol binding protein 4, plasma xref: ENSEMBL:ENSG00000138207 xref: GENATLAS:RBP4 xref: HGNC:9922 xref: OMIM:180250 xref: REACTOME:P02753 xref: UNIPROTKB/SWISSPROT:P02753 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352718 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Progressive retinal dystrophy due to retinol transport defect property_value: alternative:term "Retinol-binding protein 4, plasma" xsd:string property_value: symbol "RBP4" xsd:string [Term] id: Orphanet:356212 name: solute carrier family 25 (aspartate/glutamate carrier), member 12 xref: ENSEMBL:ENSG00000115840 xref: GENATLAS:SLC25A12 xref: HGNC:10982 xref: OMIM:603667 xref: REACTOME:O75746 xref: UNIPROTKB/SWISSPROT:O75746 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:353217 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epileptic encephalopathy with global cerebral demyelination property_value: alternative:term "Aralar" xsd:string property_value: alternative:term "Solute carrier family 25 (mitochondrial carrier, Aralar), member 12" xsd:string property_value: symbol "SLC25A12" xsd:string [Term] id: Orphanet:356228 name: serine active site containing 1 xref: ENSEMBL:ENSG00000122335 xref: GENATLAS:SERAC1 xref: HGNC:21061 xref: OMIM:614725 xref: UNIPROTKB/SWISSPROT:Q96JX3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:352328 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! MEGDEL syndrome property_value: alternative:term "FLJ14917" xsd:string property_value: symbol "SERAC1" xsd:string [Term] id: Orphanet:35656 name: Coenzyme Q10 deficiency is_a: Orphanet:225700 ! Mitochondrial disease with epilepsy is_a: Orphanet:225703 ! Mitochondrial disease with peripheral neuropathy is_a: Orphanet:2443 ! Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is_a: Orphanet:68385 ! Neurometabolic disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "CoQ10 deficiency" xsd:string [Term] id: Orphanet:356638 name: immunoglobulin heavy variable 4-34 xref: ENSEMBL:ENSG00000211956 xref: GENATLAS:IGHV4-34 xref: HGNC:5650 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:300878 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hairy cell leukemia variant property_value: symbol "IGHV4-34" xsd:string [Term] id: Orphanet:35664 name: ALDH18A1-related De Barsy syndrome xref: ICD10:Q87.8 xref: OMIM:219150 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2962 ! De Barsy syndrome property_value: alternative:term "Delta-1-pyrroline 5-carboxylate synthetase deficiency" xsd:string property_value: alternative:term "Neurocutaneous syndrome, Bicknell type" xsd:string property_value: alternative:term "P5CS deficiency" xsd:string [Term] id: Orphanet:356847 name: CD27 molecule xref: ENSEMBL:ENSG00000139193 xref: GENATLAS:CD27 xref: HGNC:11922 xref: OMIM:186711 xref: UNIPROTKB/SWISSPROT:P26842 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:238505 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive lymphoproliferative disease property_value: alternative:term "S152" xsd:string property_value: alternative:term "TNFRSF7" xsd:string property_value: alternative:term "Tp55" xsd:string property_value: alternative:term "Tumor necrosis factor receptor superfamily, member 7" xsd:string property_value: symbol "CD27" xsd:string [Term] id: Orphanet:35686 name: Serpiginous choroiditis xref: SNOMED CT:312491004 xref: UMLS:C0729842 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:90061 ! Non-infectious posterior uveitis property_value: alternative:term "Geographic helicoid peripapillary choroidopathy" xsd:string [Term] id: Orphanet:35687 name: Erdheim-Chester disease xref: ICD10:D76.3 xref: MEDDRA:10060801 xref: MESH:D031249 xref: UMLS:C0878675 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:157987 ! Non-Langerhans cell histiocytosis relationship: part_of Orphanet:240266 ! Systemic non-Langerhans cell histiocytosis relationship: part_of Orphanet:324930 ! Granulomatous autoinflammatory syndrome property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement." xsd:string [Term] id: Orphanet:35688 name: Madelung deformity xref: ICD10:Q74.0 xref: OMIM:127300 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:294949 ! Joint formation defects relationship: part_of Orphanet:93438 ! Mesomelic and rhizo-mesomelic dysplasia [Term] id: Orphanet:35689 name: Primary lateral sclerosis xref: ICD10:G12.2 xref: MEDDRA:10036704 xref: OMIM:611637 xref: SNOMED CT:81211007 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:98503 ! Motor neuron disease property_value: alternative:term "Adult-onset PLS" xsd:string property_value: alternative:term "Adult-onset primary lateral sclerosis" xsd:string property_value: alternative:term "PLS" xsd:string [Term] id: Orphanet:356939 name: UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 xref: ENSEMBL:ENSG00000176022 xref: GENATLAS:B3GALT6 xref: HGNC:17978 xref: OMIM:615291 xref: REACTOME:Q96L58 xref: UNIPROTKB/SWISSPROT:Q96L58 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:75496 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos syndrome, progeroid type relationship: Orphanet:317343 Orphanet:93359 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Spondyloepimetaphyseal dysplasia with joint laxity property_value: alternative:term "beta-1,3-galactosyltransferase-6" xsd:string property_value: alternative:term "beta3GalT6" xsd:string property_value: alternative:term "UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6" xsd:string property_value: symbol "B3GALT6" xsd:string [Term] id: Orphanet:356947 name: 3q26q27 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262019 ! Partial deletion of the long arm of chromosome 3 property_value: alternative:term "3q26-q27microdeletion syndrome" xsd:string property_value: alternative:term "Del(3)(q26q27)" xsd:string property_value: alternative:term "Monosomy 3q26-q27" xsd:string property_value: alternative:term "Monosomy 3q26q27" xsd:string [Term] id: Orphanet:35696 name: Mitochondrial disorder due to a defect in mitochondrial protein synthesis xref: ICD10:E88.8 is_a: Orphanet:2443 ! Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies property_value: alternative:term "Combined oxidative phosphorylation defect" xsd:string property_value: alternative:term "Combined OXPHOS defect" xsd:string property_value: alternative:term "Combined OXPHOS deficiency" xsd:string property_value: alternative:term "COXPD" xsd:string [Term] id: Orphanet:356961 name: SLC35A2-CDG xref: ICD10:E77.8 xref: OMIM:300896 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature relationship: part_of Orphanet:269564 ! Genetic syndrome with a central nervous system malformation as major feature relationship: part_of Orphanet:309526 ! Disorder of multiple glycosylation relationship: part_of Orphanet:371054 ! X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature relationship: part_of Orphanet:371235 ! Congenital disorder of glycosylation with developmental anomaly property_value: alternative:term "CDG syndrome type 2m" xsd:string property_value: alternative:term "CDG syndrome type IIm" xsd:string property_value: alternative:term "CDG-IIm" xsd:string property_value: alternative:term "CDG2M" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type 2m" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type IIm" xsd:string [Term] id: Orphanet:356978 name: D,L-2-hydroxyglutaric aciduria xref: ICD10:E72.8 xref: OMIM:615182 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:19 ! 2-hydroxyglutaric aciduria property_value: alternative:term "Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia" xsd:string property_value: alternative:term "Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria" xsd:string property_value: alternative:term "D,L-2-HGA" xsd:string property_value: alternative:term "D,L-2-hydroxyglutaric acidemia" xsd:string [Term] id: Orphanet:35698 name: Mitochondrial DNA depletion syndrome xref: ICD10:G71.3 xref: MEDDRA:10059396 xref: SNOMED CT:237995002 xref: UMLS:C0342782 is_a: Orphanet:104013 ! Metabolic disease with intestinal involvement is_a: Orphanet:206966 ! Mitochondrial myopathy is_a: Orphanet:352456 ! Mitochondrial DNA maintenance syndrome is_a: Orphanet:98695 ! Mitochondrial disease with eye involvement relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "mtDNA depletion syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, manifesting either as a hepatocerebral form, a myopathic form, a benign 'later-onset' myopathic form or a cardiomyopathic form." xsd:string [Term] id: Orphanet:356996 name: Intellectual deficiency - hypotonia - spasticity - sleep disorder xref: OMIM:615493 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:357001 name: 19p13.13 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:261983 ! Partial deletion of the short arm of chromosome 19 property_value: alternative:term "Del(19)(p13.13)" xsd:string property_value: alternative:term "Monosomy 19p13.13" xsd:string [Term] id: Orphanet:357008 name: Atypical hemolytic uremic syndrome with DGKE deficiency xref: ICD10:D58.8 xref: OMIM:615008 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2134 ! Atypical hemolytic uremic syndrome property_value: alternative:term "aHUS with DGKE deficiency" xsd:string property_value: alternative:term "Atypical HUS with DGKE deficiency" xsd:string property_value: alternative:term "D-HUS with DGKE deficiency" xsd:string property_value: alternative:term "Hemolytic-uremic syndrome without diarrhea with DGKE deficiency" xsd:string [Term] id: Orphanet:35701 name: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency xref: ICD10:E71.3 xref: OMIM:605911 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79183 ! Disorder of ketone body metabolism property_value: alternative:term "HMG-CoA synthase deficiency" xsd:string [Term] id: Orphanet:357019 name: protein O-fucosyltransferase 1 xref: ENSEMBL:ENSG00000101346 xref: GENATLAS:POFUT1 xref: HGNC:14988 xref: OMIM:607491 xref: REACTOME:Q9H488 xref: UNIPROTKB/SWISSPROT:Q9H488 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79145 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Dowling-Degos disease property_value: alternative:term "FUT12" xsd:string property_value: alternative:term "GDP-fucose protein O-fucosyltransferase 1" xsd:string property_value: alternative:term "KIAA0180" xsd:string property_value: alternative:term "O-Fuc-T" xsd:string property_value: alternative:term "O-FUT" xsd:string property_value: alternative:term "Peptide-O-fucosyltransferase" xsd:string property_value: symbol "POFUT1" xsd:string [Term] id: Orphanet:357027 name: Familial retinoblastoma xref: ICD10:C69.2 is_a: Orphanet:790 ! Retinoblastoma relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome property_value: alternative:term "Bilateral retinoblastoma" xsd:string property_value: alternative:term "Hereditary retinoblastoma" xsd:string [Term] id: Orphanet:357034 name: Unilateral retinoblastoma xref: ICD10:C69.2 is_a: Orphanet:790 ! Retinoblastoma relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Non-familial retinoblastoma" xsd:string property_value: alternative:term "Non-hereditary retinoblastoma" xsd:string [Term] id: Orphanet:35704 name: Arginine:glycine amidinotransferase deficiency xref: ICD10:E72.8 xref: OMIM:612718 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79172 ! Disorder of creatine biosynthesis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "L-Arginine:glycine amidinotransferase (AGAT) deficiency is an autosomal recessive disorder of creatine biosynthesis (see this term) described in 7 patients to date and characterized by a mild to moderate intellectual disability, usually without pyramidal/extrapyramidal and behavioral problems. Early diagnosis and treatment with oral doses of creatine monohydrate supplementation appears successful in the prevention of AGAT deficiency manifestations." xsd:string [Term] id: Orphanet:357043 name: Amyotrophic lateral sclerosis type 4 xref: ICD10:G12.2 xref: OMIM:602433 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:98505 ! Genetic motor neuron disease property_value: alternative:term "ALS4" xsd:string property_value: alternative:term "dHMN with upper motor neuron signs" xsd:string property_value: alternative:term "Distal hereditary motor neuropathy with upper motor neuron signs" xsd:string [Term] id: Orphanet:35705 name: Neurometabolic disorder due to serine deficiency xref: ICD10:E72.8 is_a: Orphanet:79194 ! Disorder of serine or glycine metabolism property_value: alternative:term "Serine deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency (see these terms)." xsd:string [Term] id: Orphanet:357054 name: family with sequence similarity 111, member A xref: ENSEMBL:ENSG00000166801 xref: GENATLAS:FAM111A xref: HGNC:24725 xref: OMIM:615292 xref: UNIPROTKB/SWISSPROT:Q96PZ2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2763 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Osteocraniostenosis relationship: Orphanet:317343 Orphanet:93325 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant Kenny-Caffey syndrome property_value: alternative:term "FLJ22794" xsd:string property_value: alternative:term "KIAA1895" xsd:string property_value: symbol "FAM111A" xsd:string [Term] id: Orphanet:357058 name: Autosomal recessive cutis laxa type 2A xref: ICD10:Q82.8 xref: OMIM:219200 xref: OMIM:278250 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:309778 ! Defect in V-ATPase relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature relationship: part_of Orphanet:371195 ! Congenital disorder of glycosylation-related bone disorder relationship: part_of Orphanet:371200 ! Congenital disorder of glycosylation with skin involvement relationship: part_of Orphanet:90350 ! Autosomal recessive cutis laxa type 2 property_value: alternative:term "ARCL2A" xsd:string [Term] id: Orphanet:35706 name: Glutaric acidemia type 3 xref: ICD10:E72.3 xref: OMIM:231690 xref: SNOMED CT:238070003 xref: UMLS:C0342873 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:225696 ! Energy metabolism disorder with epilepsy relationship: part_of Orphanet:309810 ! Disorder of peroxisomal alpha-, beta- and omega-oxidation property_value: alternative:term "Glutaric aciduria type 3" xsd:string property_value: alternative:term "Glutaryl-CoA oxidase deficiency" xsd:string [Term] id: Orphanet:357064 name: Autosomal recessive cutis laxa type 2B xref: ICD10:Q82.8 xref: OMIM:612940 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:90350 ! Autosomal recessive cutis laxa type 2 property_value: alternative:term "ARCL2, progeroid type" xsd:string property_value: alternative:term "ARCL2B" xsd:string property_value: alternative:term "Autosomal recessive cutis laxa type 2, progeroid type" xsd:string [Term] id: Orphanet:357074 name: Autosomal recessive cutis laxa type 2, classic type xref: ICD10:Q82.8 xref: OMIM:219200 is_a: Orphanet:357058 ! Autosomal recessive cutis laxa type 2A property_value: alternative:term "ARCL2, classic type" xsd:string property_value: alternative:term "ARCL2, Debré type" xsd:string property_value: alternative:term "Autosomal recessive cutis laxa type 2, Debré type" xsd:string [Term] id: Orphanet:35708 name: Aromatic L-amino acid decarboxylase deficiency xref: ICD10:G24.8 xref: OMIM:608643 xref: SNOMED CT:124600004 xref: UMLS:C1291564 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309830 ! Disorder of catecholamine synthesis relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "AADC deficiency" xsd:string [Term] id: Orphanet:35710 name: Glucose-galactose malabsorption xref: ICD10:E74.3 xref: MEDDRA:10066388 xref: OMIM:606824 xref: SNOMED CT:190749000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:104003 ! Congenital intestinal transport defect relationship: part_of Orphanet:79178 ! Glucose transport disorder property_value: alternative:term "SGLT1 deficiency" xsd:string [Term] id: Orphanet:357107 name: Arterial thoracic outlet syndrome xref: ICD10:G54.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:97330 ! Thoracic outlet syndrome property_value: alternative:term "Arterial cervical rib syndrome" xsd:string property_value: alternative:term "Arterial costoclavicular syndrome" xsd:string property_value: alternative:term "Arterial hyperabduction syndrome" xsd:string property_value: alternative:term "Arterial scalenus anticus syndrome" xsd:string property_value: alternative:term "Arterial thoracic outlet compression syndrome" xsd:string property_value: alternative:term "Arterial TOS" xsd:string property_value: alternative:term "ATOS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS; see this term) that presents as unilateral upper extremity ischemia." xsd:string [Term] id: Orphanet:357131 name: Venous thoracic outlet syndrome xref: ICD10:G54.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:97330 ! Thoracic outlet syndrome property_value: alternative:term "Effort subclavian vein thrombosis" xsd:string property_value: alternative:term "Paget-Schrotter disease" xsd:string property_value: alternative:term "Venous cervical rib syndrome" xsd:string property_value: alternative:term "Venous costoclavicular syndrome" xsd:string property_value: alternative:term "Venous hyperabduction syndrome" xsd:string property_value: alternative:term "Venous scalenus anticus syndrome" xsd:string property_value: alternative:term "Venous thoracic outlet compression syndrome" xsd:string property_value: alternative:term "Venous TOS" xsd:string property_value: alternative:term "VTOS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS; see this term) that manifests as unilateral (rarely bilateral) arm pain and cyanosis." xsd:string [Term] id: Orphanet:357154 name: Oral submucous fibrosis xref: ICD10:K13.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:68329 ! Rare maxillo-facial surgical disease property_value: alternative:term "OSMF" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment." xsd:string [Term] id: Orphanet:357158 name: Mandibulofacial dysostosis - macroblepharon - macrostomia xref: ICD10:Q87.0 xref: OMIM:602562 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:155899 ! Mandibulofacial dysostosis relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:93453 ! Dysostosis with predominant craniofacial involvement property_value: alternative:term "Macroblepharon - ectropion - hypertelorism - macrostomia syndrome" xsd:string [Term] id: Orphanet:357175 name: Short ulna - dysmorphism - hypotonia - intellectual deficit xref: ICD10:Q87.8 xref: OMIM:615162 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:357214 name: ring finger protein 216 xref: ENSEMBL:ENSG00000011275 xref: GENATLAS:RNF216 xref: HGNC:21698 xref: OMIM:609948 xref: UNIPROTKB/SWISSPROT:Q9NWF9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1173 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cerebellar ataxia - hypogonadism property_value: alternative:term "TRIAD3" xsd:string property_value: alternative:term "UBCE7IP1" xsd:string property_value: alternative:term "ZIN" xsd:string property_value: symbol "RNF216" xsd:string [Term] id: Orphanet:357220 name: Primary essential cutis verticis gyrata xref: ICD10:Q82.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:671 ! Primary cutis verticis gyrata [Term] id: Orphanet:357225 name: Primary non-essential cutis verticis gyrata xref: ICD10:Q82.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183472 ! Genetic dermis disorder relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:671 ! Primary cutis verticis gyrata [Term] id: Orphanet:357229 name: ribosomal protein SA xref: ENSEMBL:ENSG00000168028 xref: GENATLAS:RPSA xref: HGNC:6502 xref: OMIM:150370 xref: REACTOME:P08865 xref: UNIPROTKB/SWISSPROT:P08865 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101351 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated congenital asplenia property_value: alternative:term "37LRP" xsd:string property_value: alternative:term "laminin receptor 1 (67kD, ribosomal protein SA)" xsd:string property_value: alternative:term "LAMR1" xsd:string property_value: alternative:term "LRP" xsd:string property_value: alternative:term "p40" xsd:string property_value: alternative:term "SA" xsd:string property_value: symbol "RPSA" xsd:string [Term] id: Orphanet:357237 name: Severe combined immunodeficiency due to CARD11 deficiency xref: ICD10:D81.2 xref: OMIM:615206 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183660 ! Severe combined immunodeficiency property_value: alternative:term "SCID due to CARD11 deficiency" xsd:string [Term] id: Orphanet:357329 name: Cryptosporidiosis - chronic cholangitis - liver disease xref: ICD10:D81.8 xref: OMIM:615207 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency [Term] id: Orphanet:357332 name: Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes xref: ICD10:Q87.2 xref: OMIM:615170 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "Synactyly - camptodactyly and clinodactyly of fifth fingers - bifid halluces" xsd:string property_value: alternative:term "Wahab syndrome" xsd:string [Term] id: Orphanet:35737 name: Morning glory syndrome xref: ICD10:Q14.2 xref: MEDDRA:10027974 xref: OMIM:120430 xref: UMLS:C0549307 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98558 ! Rare eye disease due to a differentiation anomaly relationship: part_of Orphanet:98671 ! Optic neuropathy property_value: alternative:term "Ectasic coloboma" xsd:string property_value: alternative:term "Volubilis syndrome" xsd:string [Term] id: Orphanet:357435 name: interleukin 21 receptor xref: ENSEMBL:ENSG00000103522 xref: GENATLAS:IL21R xref: HGNC:6006 xref: OMIM:605383 xref: UNIPROTKB/SWISSPROT:Q9HBE5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:357329 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cryptosporidiosis - chronic cholangitis - liver disease property_value: alternative:term "CD360" xsd:string property_value: symbol "IL21R" xsd:string [Term] id: Orphanet:357449 name: cysteinyl-tRNA synthetase xref: ENSEMBL:ENSG00000110619 xref: GENATLAS:CARS xref: HGNC:1493 xref: OMIM:123859 xref: REACTOME:P49589 xref: UNIPROTKB/SWISSPROT:P49589 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:178342 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Inflammatory myofibroblastic tumor property_value: alternative:term "CARS1" xsd:string property_value: alternative:term "Cysteine tRNA ligase 1, cytoplasmic" xsd:string property_value: symbol "CARS" xsd:string [Term] id: Orphanet:357453 name: tropomyosin 4 xref: ENSEMBL:ENSG00000167460 xref: GENATLAS:TPM4 xref: HGNC:12013 xref: OMIM:600317 xref: REACTOME:P67936 xref: UNIPROTKB/SWISSPROT:P67936 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:178342 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Inflammatory myofibroblastic tumor property_value: symbol "TPM4" xsd:string [Term] id: Orphanet:357502 name: Idiopathic nephrotic syndrome xref: ICD10:N04 is_a: Orphanet:102373 ! Primary glomerular disease [Term] id: Orphanet:357506 name: Genetic nonsyndromic renal or urinary tract malformation is_a: Orphanet:183539 ! Genetic renal or urinary tract malformation [Term] id: Orphanet:357738 name: zinc finger protein 408 xref: ENSEMBL:ENSG00000175213 xref: GENATLAS:ZNF408 xref: HGNC:20041 xref: UNIPROTKB/SWISSPROT:Q9H9D4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:891 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial exudative vitreoretinopathy property_value: alternative:term "FLJ12827" xsd:string property_value: symbol "ZNF408" xsd:string [Term] id: Orphanet:357756 name: kinesin family member 23 xref: ENSEMBL:ENSG00000137807 xref: GENATLAS:KIF23 xref: HGNC:6392 xref: OMIM:605064 xref: REACTOME:Q02241 xref: UNIPROTKB/SWISSPROT:Q02241 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98870 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital dyserythropoietic anemia type III property_value: alternative:term "Kinesin-like 5 (mitotic kinesin-like protein 1)" xsd:string property_value: alternative:term "KNSL5" xsd:string property_value: alternative:term "MKLP-1" xsd:string property_value: alternative:term "MKLP1" xsd:string property_value: symbol "KIF23" xsd:string [Term] id: Orphanet:357791 name: BMS1 ribosome biogenesis factor xref: ENSEMBL:ENSG00000165733 xref: GENATLAS:BMS1 xref: HGNC:23505 xref: OMIM:611448 xref: UNIPROTKB/SWISSPROT:Q14692 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1114 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Circumscribed cutaneous aplasia of the vertex property_value: alternative:term "BMS1 homolog, ribosome assembly protein (yeast)" xsd:string property_value: alternative:term "BMS1-like, ribosome assembly protein (yeast)" xsd:string property_value: alternative:term "BMS1L" xsd:string property_value: alternative:term "KIAA0187" xsd:string property_value: symbol "BMS1" xsd:string [Term] id: Orphanet:357802 name: lines homolog (Drosophila) xref: ENSEMBL:ENSG00000140471 xref: GENATLAS:LINS1 xref: HGNC:30922 xref: OMIM:610350 xref: UNIPROTKB/SWISSPROT:Q8NG48 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:88616 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive nonsyndromic intellectual deficit property_value: alternative:term "Lines homolog 1 (Drosophila)" xsd:string property_value: alternative:term "LINS1" xsd:string property_value: alternative:term "WINS1" xsd:string property_value: symbol "LINS" xsd:string [Term] id: Orphanet:358 name: Gitelman syndrome xref: ICD10:N15.8 xref: MEDDRA:10062906 xref: MESH:D053579 xref: OMIM:263800 xref: SNOMED CT:3188003 xref: UMLS:C0268450 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:306519 ! Familial primary hypomagnesemia with hypocalcuria property_value: alternative:term "Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria" xsd:string [Term] id: Orphanet:35807 name: Ovarian germ cell malignant tumor xref: ICD10:C56 xref: OMIM:603737 is_a: Orphanet:213500 ! Rare ovarian cancer is_a: Orphanet:363582 ! Gonadal germ cell tumor relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Ovarian germ cell cancer" xsd:string [Term] id: Orphanet:35808 name: Ovarian malignant tumor of sex cord-stromal origin xref: ICD10:C56 is_a: Orphanet:213500 ! Rare ovarian cancer relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Ovarian cancer of sex cord-stromal origin" xsd:string [Term] id: Orphanet:358321 name: STEAP family member 3, metalloreductase xref: ENSEMBL:ENSG00000115107 xref: GENATLAS:STEAP3 xref: HGNC:24592 xref: OMIM:609671 xref: REACTOME:Q658P3 xref: UNIPROTKB/SWISSPROT:Q658P3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:300298 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe congenital hypochromic anemia with ringed sideroblasts property_value: alternative:term "dudlin-2" xsd:string property_value: alternative:term "STMP3" xsd:string property_value: alternative:term "TSAP6" xsd:string property_value: symbol "STEAP3" xsd:string [Term] id: Orphanet:358431 name: solute carrier family 35 (UDP-galactose transporter), member A2 xref: ENSEMBL:ENSG00000102100 xref: GENATLAS:SLC35A2 xref: HGNC:11022 xref: OMIM:314375 xref: REACTOME:P78381 xref: UNIPROTKB/SWISSPROT:P78381 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:356961 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! SLC35A2-CDG property_value: alternative:term "Solute carrier family 35 (UDP-galactose transporter), member 2" xsd:string property_value: alternative:term "UGALT" xsd:string property_value: alternative:term "UGAT" xsd:string property_value: alternative:term "UGT" xsd:string property_value: alternative:term "UGT1" xsd:string property_value: alternative:term "UGT2" xsd:string property_value: alternative:term "UGTL" xsd:string property_value: symbol "SLC35A2" xsd:string [Term] id: Orphanet:358443 name: solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 xref: ENSEMBL:ENSG00000100075 xref: GENATLAS:SLC25A1 xref: HGNC:10979 xref: OMIM:190315 xref: REACTOME:P53007 xref: UNIPROTKB/SWISSPROT:P53007 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:356978 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! D,L-2-hydroxyglutaric aciduria property_value: alternative:term "CTP" xsd:string property_value: alternative:term "SLC20A3" xsd:string property_value: alternative:term "Solute carrier family 20 (mitochondrial citrate transporter), member 3" xsd:string property_value: symbol "SLC25A1" xsd:string [Term] id: Orphanet:358448 name: ankyrin 3, node of Ranvier (ankyrin G) xref: ENSEMBL:ENSG00000151150 xref: GENATLAS:ANK3 xref: HGNC:494 xref: OMIM:600465 xref: REACTOME:Q12955 xref: UNIPROTKB/SWISSPROT:Q12955 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:356996 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intellectual deficiency - hypotonia - spasticity - sleep disorder property_value: alternative:term "ankyrin-3, node of Ranvier" xsd:string property_value: alternative:term "ankyrin-G" xsd:string property_value: symbol "ANK3" xsd:string [Term] id: Orphanet:358558 name: RAB28, member RAS oncogene family xref: ENSEMBL:ENSG00000157869 xref: GENATLAS:RAB28 xref: HGNC:9768 xref: OMIM:612994 xref: UNIPROTKB/SWISSPROT:P51157 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1872 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cone rod dystrophy property_value: symbol "RAB28" xsd:string [Term] id: Orphanet:358562 name: kelch-like family member 40 xref: ENSEMBL:ENSG00000157119 xref: GENATLAS:KBTBD5 xref: HGNC:30372 xref: OMIM:615340 xref: UNIPROTKB/SWISSPROT:Q2TBA0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171430 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe congenital nemaline myopathy property_value: alternative:term "KBTBD5" xsd:string property_value: alternative:term "Kelch repeat and BTB (POZ) domain containing 5" xsd:string property_value: alternative:term "Kelch-like 40 (Drosophila)" xsd:string property_value: alternative:term "NEM8" xsd:string property_value: alternative:term "nemaline myopathy type 8" xsd:string property_value: alternative:term "Sarcosynapsin" xsd:string property_value: alternative:term "SRYP" xsd:string property_value: symbol "KLHL40" xsd:string [Term] id: Orphanet:358571 name: beta-1,4-N-acetyl-galactosaminyl transferase 1 xref: ENSEMBL:ENSG00000135454 xref: GENATLAS:B4GALNT1 xref: HGNC:4117 xref: OMIM:601873 xref: UNIPROTKB/SWISSPROT:Q00973 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101006 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive spastic paraplegia type 26 property_value: alternative:term "beta1-4GalNAc-T" xsd:string property_value: alternative:term "GALGT" xsd:string property_value: alternative:term "GD2 synthase, GM2 synthase" xsd:string property_value: alternative:term "spastic paraplegia 26" xsd:string property_value: alternative:term "SPG26" xsd:string property_value: alternative:term "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1" xsd:string property_value: alternative:term "UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)" xsd:string property_value: symbol "B4GALNT1" xsd:string [Term] id: Orphanet:35858 name: Gräsbeck-Imerslund disease xref: ICD10:D51.1 xref: OMIM:261100 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:104004 ! Intestinal disease due to vitamin absorption anomaly relationship: part_of Orphanet:79171 ! Disorder of cobalamin metabolism and transport relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease relationship: part_of Orphanet:98396 ! Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder property_value: alternative:term "Familial megaloblastic anemia" xsd:string property_value: alternative:term "Selective cobalamin malabsorption with proteinuria" xsd:string [Term] id: Orphanet:358598 name: PR domain containing 16 xref: ENSEMBL:ENSG00000142611 xref: GENATLAS:PRDM16 xref: HGNC:14000 xref: OMIM:605557 xref: UNIPROTKB/SWISSPROT:Q9HAZ2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:154 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial isolated dilated cardiomyopathy relationship: Orphanet:317343 Orphanet:54260 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Left ventricular noncompaction relationship: Orphanet:317349 Orphanet:1606 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 1p36 deletion syndrome property_value: alternative:term "KIAA1675" xsd:string property_value: alternative:term "MDS1/EVI1-like" xsd:string property_value: alternative:term "MEL1" xsd:string property_value: alternative:term "MGC166915" xsd:string property_value: alternative:term "PFM13" xsd:string property_value: alternative:term "PR-domain zinc finger protein 16" xsd:string property_value: alternative:term "Transcription factor MEL1" xsd:string property_value: symbol "PRDM16" xsd:string [Term] id: Orphanet:358630 name: Ras-like without CAAX 1 xref: ENSEMBL:ENSG00000143622 xref: GENATLAS:RIT1 xref: HGNC:10023 xref: OMIM:609591 xref: REACTOME:Q92963 xref: UNIPROTKB/SWISSPROT:Q92963 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:648 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Noonan syndrome property_value: alternative:term "GTP-binding protein Roc1" xsd:string property_value: alternative:term "MGC125864" xsd:string property_value: alternative:term "MGC125865" xsd:string property_value: alternative:term "RIBB" xsd:string property_value: alternative:term "Ric (Drosophila)-like, expressed in many tissues" xsd:string property_value: alternative:term "Ric-like, expressed in many tissues" xsd:string property_value: alternative:term "RIT" xsd:string property_value: alternative:term "ROC1" xsd:string property_value: symbol "RIT1" xsd:string [Term] id: Orphanet:358659 name: ADAM metallopeptidase domain 10 xref: ENSEMBL:ENSG00000137845 xref: GENATLAS:ADAM10 xref: HGNC:188 xref: IUPHAR:1658 xref: OMIM:602192 xref: REACTOME:O14672 xref: UNIPROTKB/SWISSPROT:O14672 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178307 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Reticulate acropigmentation of Kitamura property_value: alternative:term "a disintegrin and metalloproteinase domain 10" xsd:string property_value: alternative:term "CD156c" xsd:string property_value: alternative:term "HsT18717" xsd:string property_value: alternative:term "kuz" xsd:string property_value: alternative:term "MADM" xsd:string property_value: symbol "ADAM10" xsd:string [Term] id: Orphanet:358666 name: dermatan sulfate epimerase xref: ENSEMBL:ENSG00000111817 xref: GENATLAS:DSE xref: HGNC:21144 xref: OMIM:605942 xref: REACTOME:Q9UL01 xref: UNIPROTKB/SWISSPROT:Q9UL01 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2953 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ehlers-Danlos syndrome, musculocontractural type property_value: alternative:term "DSEPI" xsd:string property_value: alternative:term "SART2" xsd:string property_value: alternative:term "Squamous cell carcinoma antigen recognized by T cells 2" xsd:string property_value: symbol "DSE" xsd:string [Term] id: Orphanet:358686 name: centrosomal protein 89kDa xref: ENSEMBL:ENSG00000121289 xref: GENATLAS:CEP89 xref: HGNC:25907 xref: OMIM:615470 xref: UNIPROTKB/SWISSPROT:Q96ST8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:254905 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated cytochrome C oxidase deficiency property_value: alternative:term "CCDC123" xsd:string property_value: alternative:term "Coiled-coil domain containing 123" xsd:string property_value: alternative:term "FLJ14640" xsd:string property_value: symbol "CEP89" xsd:string [Term] id: Orphanet:358705 name: myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 xref: ENSEMBL:ENSG00000078403 xref: GENATLAS:MLLT10 xref: HGNC:16063 xref: OMIM:602409 xref: UNIPROTKB/SWISSPROT:P55197 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:99861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor T-cell acute lymphoblastic leukemia property_value: alternative:term "'myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10'" xsd:string property_value: alternative:term "AF10" xsd:string property_value: alternative:term "myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10" xsd:string property_value: symbol "MLLT10" xsd:string [Term] id: Orphanet:358708 name: heterogeneous nuclear ribonucleoprotein H1 (H) xref: ENSEMBL:ENSG00000169045 xref: GENATLAS:HNRNPH1 xref: HGNC:5041 xref: OMIM:601035 xref: REACTOME:P31943 xref: UNIPROTKB/SWISSPROT:P31943 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:99861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor T-cell acute lymphoblastic leukemia property_value: alternative:term "hnRNPH" xsd:string property_value: alternative:term "HNRPH1" xsd:string property_value: symbol "HNRNPH1" xsd:string [Term] id: Orphanet:358713 name: DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked xref: ENSEMBL:ENSG00000215301 xref: GENATLAS:DDX3X xref: HGNC:2745 xref: OMIM:300160 xref: UNIPROTKB/SWISSPROT:O00571 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:99861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor T-cell acute lymphoblastic leukemia property_value: alternative:term "DBX" xsd:string property_value: alternative:term "DDX14" xsd:string property_value: alternative:term "DDX3" xsd:string property_value: alternative:term "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked" xsd:string property_value: alternative:term "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3" xsd:string property_value: alternative:term "HLP2" xsd:string property_value: symbol "DDX3X" xsd:string [Term] id: Orphanet:35878 name: Hyperinsulinism-hyperammonemia syndrome xref: ICD10:E72.8 xref: OMIM:606762 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:165985 ! Diazoxide-sensitive diffuse hyperinsulinism relationship: part_of Orphanet:79167 ! Disorder of urea cycle metabolism and ammonia detoxification property_value: alternative:term "HI/HA syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hyperinsulinism-hyperammonemia syndrome is a rare energy metabolism disorder characterized clinically by recurrent symptomatic hyperinsulinemic hypoglycemia, mild to moderate persistent hyperammonemia which is generally asymptomatic, and generalized seizures." xsd:string [Term] id: Orphanet:35889 name: Acute opioid poisoning xref: ICD10:T40.0 xref: ICD10:T40.1 xref: ICD10:T40.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108999 ! Rare intoxication [Term] id: Orphanet:359 name: Hereditary glaucoma is_a: Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:35909 name: Combined deficiency of factor V and factor VIII xref: ICD10:D68.8 xref: OMIM:227300 xref: OMIM:227310 xref: OMIM:613625 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:68334 ! Rare hemorrhagic disorder due to a constitutional coagulation factors defect property_value: alternative:term "F5F8D" xsd:string property_value: alternative:term "Familial multiple coagulation factor deficiency" xsd:string property_value: alternative:term "FV and FVIII combined deficiency" xsd:string [Term] id: Orphanet:35981 name: Polymicrogyria xref: ICD10:Q04.3 xref: SNOMED CT:4945003 xref: UMLS:C0266464 is_a: Orphanet:102369 ! Rare intellectual deficit with developmental anomaly is_a: Orphanet:163209 ! Nonsyndromic cerebral malformation due to abnormal neuronal migration is_a: Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:36 name: Acrocallosal syndrome xref: ICD10:Q04.0 xref: OMIM:200990 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:199639 ! Syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:269573 ! Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "ACS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit." xsd:string [Term] id: Orphanet:360 name: Glioblastoma xref: ICD10:C71.8 xref: MEDDRA:10018336 xref: MEDDRA:10018337 xref: MESH:D005909 xref: OMIM:137800 xref: OMIM:613029 xref: SNOMED CT:393563007 xref: SNOMED CT:63634009 xref: UMLS:C0017636 xref: UMLS:C1621958 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:251561 ! High-grade astrocytoma property_value: alternative:term "GBM" xsd:string property_value: alternative:term "Glioblastoma multiforme" xsd:string [Term] id: Orphanet:360173 name: myosin, heavy chain 7B, cardiac muscle, beta xref: ENSEMBL:ENSG00000078814 xref: GENATLAS:MYH7B xref: HGNC:15906 xref: OMIM:609928 xref: REACTOME:A7E2Y1 xref: UNIPROTKB/SWISSPROT:A7E2Y1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:54260 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Left ventricular noncompaction property_value: alternative:term "dJ756N5.1" xsd:string property_value: alternative:term "KIAA1512" xsd:string property_value: alternative:term "MHC14" xsd:string property_value: alternative:term "MYH14" xsd:string property_value: alternative:term "Myosin, heavy polypeptide 7B, cardiac muscle, beta" xsd:string property_value: symbol "MYH7B" xsd:string [Term] id: Orphanet:360196 name: formin binding protein 4 xref: ENSEMBL:ENSG00000109920 xref: GENATLAS:FNBP4 xref: HGNC:19752 xref: OMIM:615265 xref: UNIPROTKB/SWISSPROT:Q8N3X1 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1106 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Microphthalmia with limb anomalies property_value: alternative:term "KIAA1014" xsd:string property_value: symbol "FNBP4" xsd:string [Term] id: Orphanet:360224 name: guanine nucleotide binding protein (G protein), alpha 11 (Gq class) xref: ENSEMBL:ENSG00000088256 xref: GENATLAS:GNA11 xref: HGNC:4379 xref: OMIM:139313 xref: REACTOME:P29992 xref: UNIPROTKB/SWISSPROT:P29992 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101049 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial hypocalciuric hypercalcemia type 2 relationship: Orphanet:317343 Orphanet:428 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant hypocalcemia property_value: symbol "GNA11" xsd:string [Term] id: Orphanet:360230 name: makorin ring finger protein 3 xref: ENSEMBL:ENSG00000179455 xref: GENATLAS:MKRN3 xref: HGNC:7114 xref: OMIM:603856 xref: UNIPROTKB/SWISSPROT:Q13064 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169615 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic central precocious puberty property_value: alternative:term "D15S9" xsd:string property_value: alternative:term "MGC88288" xsd:string property_value: alternative:term "RNF63" xsd:string property_value: alternative:term "ZFP127" xsd:string property_value: alternative:term "zinc finger protein 127" xsd:string property_value: alternative:term "ZNF127" xsd:string property_value: symbol "MKRN3" xsd:string [Term] id: Orphanet:360280 name: MLX, MAX dimerization protein xref: ENSEMBL:ENSG00000108788 xref: GENATLAS:MLX xref: HGNC:11645 xref: OMIM:602976 xref: REACTOME:Q9UH92 xref: UNIPROTKB/SWISSPROT:Q9UH92 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:3287 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Takayasu arteritis property_value: alternative:term "bHLHd13" xsd:string property_value: alternative:term "MAD7" xsd:string property_value: alternative:term "MAX-like protein X" xsd:string property_value: alternative:term "MXD7" xsd:string property_value: alternative:term "TCFL4" xsd:string property_value: alternative:term "transcription factor-like 4" xsd:string property_value: symbol "MLX" xsd:string [Term] id: Orphanet:360362 name: complement component 1, r subcomponent xref: ENSEMBL:ENSG00000159403 xref: GENATLAS:C1R xref: HGNC:1246 xref: IUPHAR:2334 xref: OMIM:613785 xref: REACTOME:P00736 xref: UNIPROTKB/SWISSPROT:P00736 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:169147 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Immunodeficiency due to an early component of complement deficiency property_value: symbol "C1R" xsd:string [Term] id: Orphanet:360481 name: armadillo repeat containing 4 xref: ENSEMBL:ENSG00000169126 xref: GENATLAS:ARMC4 xref: HGNC:25583 xref: OMIM:615408 xref: UNIPROTKB/SWISSPROT:Q5T2S8 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "DKFZP434P1735" xsd:string property_value: alternative:term "FLJ10376" xsd:string property_value: alternative:term "FLJ10817" xsd:string property_value: symbol "ARMC4" xsd:string [Term] id: Orphanet:360484 name: dyslexia susceptibility 1 candidate 1 xref: ENSEMBL:ENSG00000256061 xref: GENATLAS:DYX1C1 xref: HGNC:21493 xref: OMIM:608706 xref: UNIPROTKB/SWISSPROT:Q8WXU2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "EKN1" xsd:string property_value: alternative:term "FLJ37882" xsd:string property_value: symbol "DYX1C1" xsd:string [Term] id: Orphanet:360491 name: radial spoke head 1 homolog (Chlamydomonas) xref: ENSEMBL:ENSG00000160188 xref: GENATLAS:RSPH1 xref: HGNC:12371 xref: OMIM:609314 xref: UNIPROTKB/SWISSPROT:Q8WYR4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "FLJ32753" xsd:string property_value: alternative:term "Meichroacidin" xsd:string property_value: alternative:term "RSP44" xsd:string property_value: alternative:term "RSPH10A" xsd:string property_value: alternative:term "Testis specific A2 homolog (mouse)" xsd:string property_value: alternative:term "TSGA2" xsd:string property_value: symbol "RSPH1" xsd:string [Term] id: Orphanet:360500 name: zinc finger, MYND-type containing 10 xref: ENSEMBL:ENSG00000004838 xref: GENATLAS:ZMYND10 xref: HGNC:19412 xref: OMIM:607070 xref: UNIPROTKB/SWISSPROT:O75800 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "BLU" xsd:string property_value: symbol "ZMYND10" xsd:string [Term] id: Orphanet:360504 name: beta-transducin repeat containing E3 ubiquitin protein ligase xref: ENSEMBL:ENSG00000166167 xref: GENATLAS:BTRC xref: HGNC:1144 xref: OMIM:603482 xref: REACTOME:Q9Y297 xref: UNIPROTKB/SWISSPROT:Q9Y297 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:2440 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Split hand-split foot malformation property_value: alternative:term "beta-transducin repeat containing" xsd:string property_value: alternative:term "beta-TrCP1" xsd:string property_value: alternative:term "betaTrCP" xsd:string property_value: alternative:term "bTrCP" xsd:string property_value: alternative:term "bTrCP1" xsd:string property_value: alternative:term "FBXW1A" xsd:string property_value: alternative:term "Fwd1" xsd:string property_value: symbol "BTRC" xsd:string [Term] id: Orphanet:360868 name: potassium channel, subfamily K, member 3 xref: ENSEMBL:ENSG00000171303 xref: GENATLAS:KCNK3 xref: HGNC:6278 xref: IUPHAR:515 xref: OMIM:603220 xref: REACTOME:O14649 xref: UNIPROTKB/SWISSPROT:O14649 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:275777 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Heritable pulmonary arterial hypertension relationship: Orphanet:317345 Orphanet:275766 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Idiopathic pulmonary arterial hypertension property_value: alternative:term "K2p3.1" xsd:string property_value: alternative:term "TASK" xsd:string property_value: alternative:term "TASK-1" xsd:string property_value: symbol "KCNK3" xsd:string [Term] id: Orphanet:360995 name: dihydropyrimidinase-like 3 xref: ENSEMBL:ENSG00000113657 xref: GENATLAS:DPYSL3 xref: HGNC:3015 xref: OMIM:601168 xref: REACTOME:Q14195 xref: UNIPROTKB/SWISSPROT:Q14195 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis property_value: alternative:term "CRMP4" xsd:string property_value: alternative:term "DRP-3" xsd:string property_value: alternative:term "ULIP" xsd:string property_value: symbol "DPYSL3" xsd:string [Term] id: Orphanet:361 name: Familial glucocorticoid deficiency xref: ICD10:E27.1 xref: OMIM:202200 xref: OMIM:202355 xref: OMIM:607398 xref: OMIM:609197 xref: OMIM:614736 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101960 ! Genetic chronic primary adrenal insufficiency property_value: alternative:term "ACTH resistance" xsd:string [Term] id: Orphanet:361071 name: nuclear receptor subfamily 4, group A, member 3 xref: ENSEMBL:ENSG00000119508 xref: GENATLAS:NR4A3 xref: HGNC:7982 xref: IUPHAR:631 xref: OMIM:600542 xref: REACTOME:Q92570 xref: UNIPROTKB/SWISSPROT:Q92570 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:209916 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Extraskeletal myxoid chondrosarcoma property_value: alternative:term "CHN" xsd:string property_value: alternative:term "CSMF" xsd:string property_value: alternative:term "MINOR" xsd:string property_value: alternative:term "NOR1" xsd:string property_value: alternative:term "TEC" xsd:string property_value: symbol "NR4A3" xsd:string [Term] id: Orphanet:361085 name: TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa xref: GENATLAS:TAF15 xref: HGNC:11547 xref: OMIM:601574 xref: UNIPROTKB/SWISSPROT:Q92804 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis relationship: Orphanet:317348 Orphanet:209916 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Extraskeletal myxoid chondrosarcoma property_value: alternative:term "hTAFII68" xsd:string property_value: alternative:term "Npl3" xsd:string property_value: alternative:term "RBP56" xsd:string property_value: alternative:term "TAF2N" xsd:string property_value: alternative:term "TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)" xsd:string property_value: symbol "TAF15" xsd:string [Term] id: Orphanet:361109 name: GDP-mannose pyrophosphorylase B xref: ENSEMBL:ENSG00000173540 xref: GENATLAS:GMPPB xref: HGNC:22932 xref: OMIM:615320 xref: REACTOME:Q9Y5P6 xref: UNIPROTKB/SWISSPROT:Q9Y5P6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363623 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive limb-girdle muscular dystrophy type 2T relationship: Orphanet:317343 Orphanet:370959 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital muscular dystrophy with cerebellar involvement relationship: Orphanet:317343 Orphanet:370968 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital muscular dystrophy with intellectual disability relationship: Orphanet:317343 Orphanet:588 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Muscle-eye-brain disease property_value: alternative:term "KIAA1851" xsd:string property_value: symbol "GMPPB" xsd:string [Term] id: Orphanet:361114 name: chromodomain helicase DNA binding protein 2 xref: ENSEMBL:ENSG00000173575 xref: GENATLAS:CHD2 xref: HGNC:1917 xref: OMIM:602119 xref: UNIPROTKB/SWISSPROT:O14647 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1942 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Epilepsy with myoclonic-astatic seizures relationship: Orphanet:317343 Orphanet:2382 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Lennox-Gastaut syndrome property_value: alternative:term "DKFZp547I1315" xsd:string property_value: alternative:term "DKFZp686E01200" xsd:string property_value: alternative:term "DKFZp781D1727" xsd:string property_value: alternative:term "FLJ38614" xsd:string property_value: symbol "CHD2" xsd:string [Term] id: Orphanet:361157 name: sodium channel, voltage-gated, type II, beta subunit xref: ENSEMBL:ENSG00000149575 xref: GENATLAS:SCN2B xref: HGNC:10589 xref: OMIM:601327 xref: REACTOME:O60939 xref: UNIPROTKB/SWISSPROT:O60939 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial atrial fibrillation property_value: alternative:term "Sodium channel, voltage-gated, type II, beta" xsd:string property_value: alternative:term "Sodium channel, voltage-gated, type II, beta polypeptide" xsd:string property_value: symbol "SCN2B" xsd:string [Term] id: Orphanet:361188 name: ankyrin repeat and sterile alpha motif domain containing 6 xref: ENSEMBL:ENSG00000165138 xref: GENATLAS:ANKS6 xref: HGNC:26724 xref: OMIM:615370 xref: UNIPROTKB/SWISSPROT:Q68DC2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93591 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Infantile autosomal recessive medullary cystic kidney disease relationship: Orphanet:317343 Orphanet:93592 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Juvenile autosomal recessive medullary cystic kidney disease property_value: alternative:term "ANKRD14" xsd:string property_value: alternative:term "Ankyrin repeat domain 14" xsd:string property_value: alternative:term "FLJ36928" xsd:string property_value: alternative:term "NPHP16" xsd:string property_value: alternative:term "SAMD6" xsd:string property_value: alternative:term "Sterile alpha motif domain containing 6" xsd:string property_value: symbol "ANKS6" xsd:string [Term] id: Orphanet:361372 name: storkhead box 1 xref: ENSEMBL:ENSG00000165730 xref: GENATLAS:STOX1 xref: HGNC:23508 xref: OMIM:609397 xref: UNIPROTKB/SWISSPROT:Q6ZVD7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:275555 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Preeclampsia property_value: alternative:term "C10orf24" xsd:string property_value: alternative:term "Chromosome 10 open reading frame 24" xsd:string property_value: alternative:term "FLJ25162" xsd:string property_value: symbol "STOX1" xsd:string [Term] id: Orphanet:36204 name: Intestinal lymphangiectasia xref: ICD10:I89.0 xref: MEDDRA:10025213 xref: MESH:D008201 xref: OMIM:152800 xref: SNOMED CT:197260007 xref: UMLS:C0024215 is_a: Orphanet:117569 ! Rare intestinal disease is_a: Orphanet:89832 ! Syndromic lymphedema relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:36205 name: Collagenous colitis xref: ICD10:K52.8 xref: MEDDRA:10048928 xref: MESH:D046729 xref: SNOMED CT:19311003 xref: UMLS:C0238067 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:58220 ! Microscopic colitis [Term] id: Orphanet:36234 name: Bacterial toxic-shock syndrome xref: ICD10:A48.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease property_value: alternative:term "Bacterial TSS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " in streptococcal TSS (see this term)." xsd:string [Term] id: Orphanet:36235 name: Staphylococcal scarlet fever xref: ICD10:A38 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:300579 ! Staphylococcal toxemia [Term] id: Orphanet:36236 name: Staphylococcal scalded skin syndrome xref: ICD10:L00 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:300579 ! Staphylococcal toxemia property_value: alternative:term "Generalized exfoliative disease" xsd:string property_value: alternative:term "SSSS" xsd:string [Term] id: Orphanet:36237 name: Bullous impetigo xref: ICD10:L01.0 xref: MEDDRA:10006563 xref: SNOMED CT:399183005 xref: UMLS:C0021100 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:300579 ! Staphylococcal toxemia relationship: part_of Orphanet:90077 ! Other acquired skin disease [Term] id: Orphanet:36238 name: Staphylococcal necrotizing pneumonia xref: ICD10:J15.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101944 ! Rare pulmonary disease relationship: part_of Orphanet:300579 ! Staphylococcal toxemia [Term] id: Orphanet:362490 name: microRNA 137 xref: ENSEMBL:ENSG00000207958 xref: GENATLAS:MIR137 xref: HGNC:31523 xref: OMIM:614304 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:293948 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 1p21.3 microdeletion syndrome property_value: alternative:term "hsa-mir-137" xsd:string property_value: alternative:term "miR-137" xsd:string property_value: alternative:term "MIRN137" xsd:string property_value: symbol "MIR137" xsd:string [Term] id: Orphanet:362495 name: major histocompatibility complex, class II, DP beta 1 xref: ENSEMBL:ENSG00000223865 xref: GENATLAS:HLA-DPB1 xref: HGNC:4940 xref: OMIM:142858 xref: REACTOME:P04440 xref: UNIPROTKB/SWISSPROT:P04440 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:133 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chronic berylliosis relationship: Orphanet:317345 Orphanet:900 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Granulomatosis with polyangiitis property_value: alternative:term "HLA-DP1B" xsd:string property_value: symbol "HLA-DPB1" xsd:string [Term] id: Orphanet:36258 name: Buerger disease xref: ICD10:I73.1 xref: OMIM:211480 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:156143 ! Predominantly medium-vessel vasculitis relationship: part_of Orphanet:68362 ! Rare vascular disease relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "Thromboangiitis obliterans" xsd:string [Term] id: Orphanet:36273 name: Gastric linitis plastica xref: ICD10:C16.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:63443 ! Gastric cancer property_value: alternative:term "Borrmann gastric cancer type 4" xsd:string property_value: alternative:term "Linitis plastica of the stomach" xsd:string [Term] id: Orphanet:362774 name: chromosome 15 open reading frame 41 xref: ENSEMBL:ENSG00000186073 xref: GENATLAS:C15orf41 xref: HGNC:26929 xref: UNIPROTKB/SWISSPROT:Q9Y2V0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98869 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital dyserythropoietic anemia type I property_value: alternative:term "FLJ22851" xsd:string property_value: alternative:term "HH114" xsd:string property_value: alternative:term "MGC11326" xsd:string property_value: symbol "C15ORF41" xsd:string [Term] id: Orphanet:363060 name: low density lipoprotein receptor-related protein associated protein 1 xref: ENSEMBL:ENSG00000163956 xref: GENATLAS:LRPAP1 xref: HGNC:6701 xref: OMIM:104225 xref: UNIPROTKB/SWISSPROT:P30533 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98619 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Rare isolated myopia property_value: alternative:term "A2MRAP" xsd:string property_value: alternative:term "HBP44" xsd:string property_value: alternative:term "Low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)" xsd:string property_value: symbol "LRPAP1" xsd:string [Term] id: Orphanet:363071 name: aquaporin 5 xref: ENSEMBL:ENSG00000161798 xref: GENATLAS:AQP5 xref: HGNC:638 xref: OMIM:600442 xref: REACTOME:P55064 xref: UNIPROTKB/SWISSPROT:P55064 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2337 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Non-epidermolytic palmoplantar keratoderma property_value: symbol "AQP5" xsd:string [Term] id: Orphanet:363162 name: ADP-ribosylation factor-like 2 binding protein xref: ENSEMBL:ENSG00000102931 xref: GENATLAS:ARL2BP xref: HGNC:17146 xref: OMIM:615407 xref: UNIPROTKB/SWISSPROT:Q9Y2Y0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "BART" xsd:string property_value: alternative:term "BART1" xsd:string property_value: alternative:term "binder of Arl2" xsd:string property_value: symbol "ARL2BP" xsd:string [Term] id: Orphanet:363189 name: Congenital anomaly of the great veins xref: ICD10:Q26 is_a: Orphanet:88991 ! Congenital heart malformation [Term] id: Orphanet:363203 name: Ring chromosome xref: ICD10:Q93.2 is_a: Orphanet:102020 ! Autosomal monosomy [Term] id: Orphanet:363245 name: Genetic progeroid syndrome xref: ICD10:E34.8 is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis [Term] id: Orphanet:363255 name: SLIT-ROBO Rho GTPase activating protein 3 xref: ENSEMBL:ENSG00000196220 xref: GENATLAS:SRGAP3 xref: HGNC:19744 xref: OMIM:606525 xref: REACTOME:O43295 xref: UNIPROTKB/SWISSPROT:O43295 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:251612 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pilocytic astrocytoma property_value: alternative:term "ARHGAP14" xsd:string property_value: alternative:term "KIAA0411" xsd:string property_value: alternative:term "MEGAP" xsd:string property_value: alternative:term "SLIT-ROBO Rho GTPase activating protein 2" xsd:string property_value: alternative:term "SRGAP2" xsd:string property_value: alternative:term "WRP" xsd:string property_value: symbol "SRGAP3" xsd:string [Term] id: Orphanet:363263 name: neurotrophic tyrosine kinase, receptor, type 2 xref: ENSEMBL:ENSG00000148053 xref: GENATLAS:NTRK2 xref: HGNC:8032 xref: IUPHAR:1818 xref: OMIM:600456 xref: REACTOME:Q16620 xref: UNIPROTKB/SWISSPROT:Q16620 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:251612 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pilocytic astrocytoma property_value: alternative:term "TRKB" xsd:string property_value: symbol "NTRK2" xsd:string [Term] id: Orphanet:363276 name: cytochrome c-1 xref: ENSEMBL:ENSG00000179091 xref: GENATLAS:CYC1 xref: HGNC:2579 xref: OMIM:123980 xref: REACTOME:P08574 xref: UNIPROTKB/SWISSPROT:P08574 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1460 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated CoQ-cytochrome C reductase deficiency property_value: alternative:term "UQCR4" xsd:string property_value: symbol "CYC1" xsd:string [Term] id: Orphanet:363279 name: protein kinase, cGMP-dependent, type I xref: ENSEMBL:ENSG00000185532 xref: GENATLAS:PRKG1 xref: HGNC:9414 xref: IUPHAR:1492 xref: OMIM:176894 xref: REACTOME:Q13976 xref: UNIPROTKB/SWISSPROT:Q13976 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:91387 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial thoracic aortic aneurysm and aortic dissection property_value: alternative:term "PGK" xsd:string property_value: alternative:term "PKG" xsd:string property_value: alternative:term "PRKG1B" xsd:string property_value: alternative:term "PRKGR1B" xsd:string property_value: symbol "PRKG1" xsd:string [Term] id: Orphanet:363294 name: Genetic syndromic Pierre Robin syndrome is_a: Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations [Term] id: Orphanet:363300 name: Genetic intractable diarrhea of infancy is_a: Orphanet:165655 ! Genetic intestinal disease property_value: alternative:term "IDI" xsd:string [Term] id: Orphanet:363306 name: Genetic intestinal disease due to fat malabsorption is_a: Orphanet:165655 ! Genetic intestinal disease [Term] id: Orphanet:363310 name: WD repeat domain 60 xref: ENSEMBL:ENSG00000126870 xref: GENATLAS:WDR60 xref: HGNC:21862 xref: OMIM:615462 xref: UNIPROTKB/SWISSPROT:Q8WVS4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:474 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Jeune syndrome relationship: Orphanet:317343 Orphanet:93271 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Short rib-polydactyly syndrome, Verma-Naumoff type property_value: alternative:term "FAP163" xsd:string property_value: alternative:term "FLJ10300" xsd:string property_value: symbol "WDR60" xsd:string [Term] id: Orphanet:363314 name: Genetic intestinal polyposis xref: ICD10:D12.6 is_a: Orphanet:165655 ! Genetic intestinal disease property_value: alternative:term "Familial intestinal polyposis" xsd:string [Term] id: Orphanet:363396 name: High myopia-sensorineural deafness syndrome xref: OMIM:221200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98620 ! Syndromic myopia [Term] id: Orphanet:363400 name: Severe neurodegenerative syndrome with lipodystrophy is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:98305 ! Genetic lipodystrophy property_value: alternative:term "Severe neurodegenerative syndrome due to BSCL2 deficiency" xsd:string [Term] id: Orphanet:363409 name: Fetal akinesia-cerebral and retinal hemorrhage syndrome xref: OMIM:615368 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:97245 ! Congenital myopathy [Term] id: Orphanet:363412 name: Hypomyelination with brain stem and spinal cord involvement and leg spasticity xref: OMIM:615281 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68356 ! Leukodystrophy property_value: alternative:term "HBSL" xsd:string [Term] id: Orphanet:363417 name: Temtamy preaxial brachydactyly syndrome xref: ICD10:Q87.2 xref: OMIM:605282 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:309450 ! Disorder of O-xylosylglycan synthesis relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371195 ! Congenital disorder of glycosylation-related bone disorder relationship: part_of Orphanet:371212 ! Congenital disorder of glycosylation with deafness as a major feature relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly [Term] id: Orphanet:363424 name: Hypotonia-cerebral atrophy-hyperglycinemia syndrome xref: ICD10:G31.8 xref: OMIM:615330 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309136 ! Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "Fatal multiple mitochondrial dysfunction syndrome type 3" xsd:string [Term] id: Orphanet:363429 name: Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome xref: ICD10:G11.1 xref: OMIM:614831 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:79166 ! Disorder of amino acid absorption and transport relationship: part_of Orphanet:98096 ! Autosomal recessive metabolic cerebellar ataxia [Term] id: Orphanet:363432 name: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency xref: ICD10:G11.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:363429 ! Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome property_value: alternative:term "Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency" xsd:string [Term] id: Orphanet:363440 name: guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O xref: ENSEMBL:ENSG00000087258 xref: GENATLAS:GNAO1 xref: HGNC:4389 xref: OMIM:139311 xref: REACTOME:P09471 xref: UNIPROTKB/SWISSPROT:P09471 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1934 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early infantile epileptic encephalopathy property_value: alternative:term "G-ALPHA-o" xsd:string property_value: symbol "GNAO1" xsd:string [Term] id: Orphanet:363444 name: Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type xref: OMIM:613680 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:363447 name: Autosomal dominant childhood-onset proximal spinal muscular atrophy xref: ICD10:G12.1 xref: OMIM:158600 xref: OMIM:615290 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:211037 ! Autosomal dominant proximal spinal muscular atrophy property_value: alternative:term "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy" xsd:string property_value: alternative:term "SMALED" xsd:string [Term] id: Orphanet:363454 name: Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures xref: ICD10:G12.1 xref: OMIM:615290 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:211037 ! Autosomal dominant proximal spinal muscular atrophy property_value: alternative:term "Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures" xsd:string property_value: alternative:term "SMALED2" xsd:string [Term] id: Orphanet:363472 name: Testicular and paratesticular tumor is_a: Orphanet:182114 ! Rare urogenital tumor property_value: alternative:term "Tumor of the testis and paratestis" xsd:string [Term] id: Orphanet:363478 name: Paratesticular adenocarcinoma xref: ICD10:C63 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:363472 ! Testicular and paratesticular tumor property_value: alternative:term "Adenocarcinoma of paratestis" xsd:string [Term] id: Orphanet:363483 name: Testicular teratoma xref: ICD10:C62 xref: OMIM:273300 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:363472 ! Testicular and paratesticular tumor property_value: alternative:term "Teratoma of the testis" xsd:string [Term] id: Orphanet:363489 name: Testicular sex cord-stromal tumor xref: ICD10:C62 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:363472 ! Testicular and paratesticular tumor property_value: alternative:term "Sex cord-stromal tumor of the testis" xsd:string [Term] id: Orphanet:363494 name: Testicular non seminomatous germ cell tumor xref: ICD10:C62 xref: OMIM:273300 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:363504 ! Testicular germ cell tumor property_value: alternative:term "non-dysgerminomatous germ cell tumor of the testis" xsd:string property_value: alternative:term "Non-seminomatous germ cell tumor of the testis" xsd:string property_value: alternative:term "Testicular non-dysgerminomatous germ cell tumor" xsd:string [Term] id: Orphanet:363504 name: Testicular germ cell tumor xref: ICD10:C62 xref: OMIM:273300 is_a: Orphanet:363472 ! Testicular and paratesticular tumor is_a: Orphanet:363582 ! Gonadal germ cell tumor property_value: alternative:term "Germ cell tumor of the testis" xsd:string [Term] id: Orphanet:363523 name: Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome xref: OMIM:615328 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:307804 ! Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature relationship: part_of Orphanet:98027 ! Rare disease with odontological manifestation [Term] id: Orphanet:363528 name: Intellectual disability-strabismus syndrome xref: OMIM:615286 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:98683 ! Syndrome with a symptomatic strabismus [Term] id: Orphanet:363534 name: Mitochondrial DNA depletion syndrome, hepatocerebrorenal form xref: ICD10:E88.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:183592 ! Genetic renal tubular disease relationship: part_of Orphanet:254871 ! Mitochondrial DNA depletion syndrome, hepatocerebral form relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:93603 ! Rare renal tubular disease property_value: alternative:term "mtDNA depletion syndrome, hepatocerebrorenal form" xsd:string [Term] id: Orphanet:363540 name: Leukoencephalopathy with mild cerebellar ataxia and white matter edema is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68356 ! Leukodystrophy [Term] id: Orphanet:363543 name: Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency xref: ICD10:G71.0 xref: OMIM:615325 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102015 ! Autosomal recessive limb-girdle muscular dystrophy relationship: part_of Orphanet:209041 ! Qualitative or quantitative defects of desmin property_value: alternative:term "LGMD2 due to desmin deficiency" xsd:string [Term] id: Orphanet:363549 name: Acute encephalopathy with biphasic seizures and late reduced diffusion is_a: Orphanet:363567 ! Acute encephalopathy with inflammation-mediated status epilepticus relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Acute infantile encephalopathy predominantly affecting the frontal lobes" xsd:string property_value: alternative:term "AESD" xsd:string property_value: alternative:term "AIEF" xsd:string [Term] id: Orphanet:36355 name: P2Y12 defect xref: ICD10:D69.8 xref: OMIM:609821 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:275736 ! Rare hemorrhagic disorder due to a platelets receptors defect property_value: alternative:term "ADP platelet receptor P2Y12 defect" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." xsd:string [Term] id: Orphanet:363558 name: New-onset refractory status epilepticus is_a: Orphanet:363567 ! Acute encephalopathy with inflammation-mediated status epilepticus relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98260 ! Adolescent-onset epilepsy syndrome property_value: alternative:term "NORES" xsd:string [Term] id: Orphanet:363567 name: Acute encephalopathy with inflammation-mediated status epilepticus is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:166484 ! Inflammatory and autoimmune disease with epilepsy relationship: part_of Orphanet:98259 ! Childhood-onset epilepsy syndrome [Term] id: Orphanet:363579 name: Extragonadal germ cell tumor is_a: Orphanet:3399 ! Germ cell tumor [Term] id: Orphanet:363582 name: Gonadal germ cell tumor is_a: Orphanet:3399 ! Germ cell tumor [Term] id: Orphanet:363611 name: Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome xref: OMIM:615502 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:363618 name: LMNA-related cardiocutaneous progeria syndrome xref: ICD10:E34.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79389 ! Premature aging relationship: part_of Orphanet:97929 ! Rare cardiac disease relationship: part_of Orphanet:98054 ! Rare genetic cardiac disease property_value: alternative:term "LCPS" xsd:string [Term] id: Orphanet:363623 name: Autosomal recessive limb-girdle muscular dystrophy type 2T xref: ICD10:G71.2 xref: OMIM:615352 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102015 ! Autosomal recessive limb-girdle muscular dystrophy relationship: part_of Orphanet:309469 ! Disorder of O-mannosylglycan synthesis relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature property_value: alternative:term "LGMD2T" xsd:string [Term] id: Orphanet:363649 name: Mandibular hypoplasia-deafness-progeroid syndrome xref: ICD10:E34.8 xref: OMIM:615381 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139033 ! Progeroid syndrome relationship: part_of Orphanet:363245 ! Genetic progeroid syndrome relationship: part_of Orphanet:79389 ! Premature aging relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "MDP syndrome" xsd:string [Term] id: Orphanet:363654 name: X-linked parkinsonism-spasticity syndrome xref: OMIM:300911 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:306666 ! Rare parkinsonian syndrome due to neurodegenerative disease relationship: part_of Orphanet:307055 ! Rare parkinsonian syndrome due to genetic neurodegenerative disease property_value: alternative:term "XPDS" xsd:string [Term] id: Orphanet:363659 name: 20q11.2 microduplication syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:262995 ! Partial trisomy of the long arm of chromosome 20 property_value: alternative:term "Dup(20)(q11.2)" xsd:string [Term] id: Orphanet:363665 name: Acro-osteolysis-keloid-like lesions-premature aging syndrome xref: OMIM:601812 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139033 ! Progeroid syndrome relationship: part_of Orphanet:363245 ! Genetic progeroid syndrome relationship: part_of Orphanet:79389 ! Premature aging property_value: alternative:term "Premature aging syndrome, Penttinen type" xsd:string [Term] id: Orphanet:36367 name: Distal monosomy 1q xref: ICD10:Q93.5 xref: OMIM:612337 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262001 ! Partial deletion of the long arm of chromosome 1 property_value: alternative:term "Distal deletion 1q" xsd:string property_value: alternative:term "Monosomy 1qter" xsd:string property_value: alternative:term "Telomeric deletion 1q" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies." xsd:string [Term] id: Orphanet:363670 name: peroxisome proliferator-activated receptor gamma, coactivator 1 alpha xref: ENSEMBL:ENSG00000109819 xref: GENATLAS:PPARGC1A xref: HGNC:9237 xref: OMIM:604517 xref: REACTOME:Q9UBK2 xref: UNIPROTKB/SWISSPROT:Q9UBK2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317346 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis property_value: alternative:term "peroxisome proliferative activated receptor, gamma, coactivator 1" xsd:string property_value: alternative:term "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha" xsd:string property_value: alternative:term "PGC1" xsd:string property_value: alternative:term "PGC1A" xsd:string property_value: alternative:term "PPARGC1" xsd:string property_value: symbol "PPARGC1A" xsd:string [Term] id: Orphanet:363677 name: Childhood-onset autosomal recessive myopathy with external ophthalmoplegia xref: ICD10:G71.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206662 ! Inclusion myopathy relationship: part_of Orphanet:98689 ! Myopathy with eye involvement [Term] id: Orphanet:363680 name: 2p13.2 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:261866 ! Partial deletion of the short arm of chromosome 2 property_value: alternative:term "Del(2)(p13.2)" xsd:string [Term] id: Orphanet:363686 name: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome xref: OMIM:615074 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:363694 name: Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome xref: OMIM:613845 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183592 ! Genetic renal tubular disease relationship: part_of Orphanet:275853 ! Syndrome with pulmonary hypertension as a major feature relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis relationship: part_of Orphanet:93603 ! Rare renal tubular disease property_value: alternative:term "HUPRA syndrome" xsd:string [Term] id: Orphanet:363700 name: Neurofibromatosis type 1 due to NF1mutation or intragenic deletion xref: ICD10:Q85.0 xref: OMIM:162200 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:636 ! Neurofibromatosis type 1 property_value: alternative:term "Von Recklinghausen disease due to NF1 mutation or intragenic deletion" xsd:string [Term] id: Orphanet:363705 name: Craniofaciofrontodigital syndrome xref: ICD10:Q87.0 xref: OMIM:114620 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:209 ! Cutis laxa relationship: part_of Orphanet:93453 ! Dysostosis with predominant craniofacial involvement property_value: alternative:term "Cantu craniofaciofrontodigital syndrome" xsd:string property_value: alternative:term "Syndrome cranio-facio-fronto-digital de Cantu" xsd:string [Term] id: Orphanet:363710 name: Spinocerebellar ataxia with altered vertical eye movements xref: ICD10:G11.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "SCA37" xsd:string property_value: alternative:term "Spinocerebellar ataxia type 37" xsd:string [Term] id: Orphanet:363717 name: Alexander disease type I xref: ICD10:E75.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:58 ! Alexander disease property_value: alternative:term "AxD type I" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration." xsd:string [Term] id: Orphanet:363722 name: Alexander disease type II xref: ICD10:E75.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:58 ! Alexander disease property_value: alternative:term "AxD type II" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD; see this term) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms." xsd:string [Term] id: Orphanet:363727 name: X-linked dyserythropoetic anemia with abnormal platelets and neutropenia xref: ICD10:D64.4 xref: OMIM:300835 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:275729 ! Rare hemorrhagic disorder due to a constitutional thrombocytopenia relationship: part_of Orphanet:85 ! Congenital dyserythropoietic anemia [Term] id: Orphanet:363741 name: Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome xref: OMIM:601794 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:202948 ! Syndromic microphthalmia relationship: part_of Orphanet:240371 ! Syndromic obesity [Term] id: Orphanet:363746 name: Balint syndrome xref: ICD10:H51.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:98006 ! Rare neurologic disease property_value: alternative:term "Balint-Holmes syndrome" xsd:string property_value: alternative:term "Optic ataxia-gaze apraxia-simultanagnosia syndrome" xsd:string [Term] id: Orphanet:36382 name: Familial cervical artery dissections xref: ICD10:I72.0 xref: ICD10:I72.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:183503 ! Genetic central nervous system and retinal vascular disease relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease property_value: alternative:term "Familial CAD" xsd:string property_value: alternative:term "Hereditary CAD" xsd:string property_value: alternative:term "Hereditary cervical artery dissections" xsd:string [Term] id: Orphanet:36383 name: Familial vascular leukoencephalopathy xref: ICD10:I67.3 xref: MESH:C531642 xref: OMIM:607595 xref: UMLS:C2930808 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:183503 ! Genetic central nervous system and retinal vascular disease relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease property_value: alternative:term "Brain small vessel disease with hemorrhage" xsd:string property_value: alternative:term "Retinal arteriolar tortuosity - infantile hemiparesis - autosomal dominant leukoencephalopathy" xsd:string [Term] id: Orphanet:36386 name: Hereditary sensory and autonomic neuropathy type 1 xref: ICD10:G60.8 xref: OMIM:162400 xref: OMIM:613640 xref: OMIM:613708 xref: OMIM:614116 xref: SNOMED CT:397734008 xref: UMLS:C0020071 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:140474 ! Autosomal dominant hereditary sensory and autonomic neuropathy relationship: part_of Orphanet:352309 ! Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement [Term] id: Orphanet:36387 name: Generalized epilepsy with febrile seizures-plus context xref: ICD10:G40.3 xref: OMIM:604233 xref: OMIM:604403 xref: OMIM:609800 xref: OMIM:611277 xref: OMIM:612279 xref: OMIM:613060 xref: OMIM:613828 xref: OMIM:613863 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:309 ! Familial partial epilepsy relationship: part_of Orphanet:98258 ! Infantile epilepsy syndrome relationship: part_of Orphanet:98259 ! Childhood-onset epilepsy syndrome relationship: part_of Orphanet:98260 ! Adolescent-onset epilepsy syndrome property_value: alternative:term "GEFS+" xsd:string [Term] id: Orphanet:36388 name: Paraneoplastic neurologic syndrome is_a: Orphanet:247242 ! Acquired ataxia property_value: alternative:term "Paraneoplastic cerebellar degeneration" xsd:string property_value: alternative:term "PCD" xsd:string [Term] id: Orphanet:363954 name: carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 xref: ENSEMBL:ENSG00000124302 xref: GENATLAS:CHST8 xref: HGNC:15993 xref: OMIM:610190 xref: UNIPROTKB/SWISSPROT:Q9H2A9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:263548 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Peeling skin syndrome type A property_value: alternative:term "GALNAC-4-ST1" xsd:string property_value: symbol "CHST8" xsd:string [Term] id: Orphanet:363958 name: 17q21.31 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:262137 ! Partial deletion of the long arm of chromosome 17 relationship: part_of Orphanet:96169 ! Koolen-De Vries syndrome property_value: alternative:term "Del(17)(q21.31)" xsd:string property_value: alternative:term "Monosomy 17q21.31" xsd:string [Term] id: Orphanet:363965 name: Koolen-De Vries syndrome due to a point mutation is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:96169 ! Koolen-De Vries syndrome [Term] id: Orphanet:363969 name: Autosomal recessive cerebral atrophy is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease [Term] id: Orphanet:36397 name: Adiposis dolorosa xref: ICD10:E88.2 xref: MEDDRA:10001294 xref: MESH:D000274 xref: OMIM:103200 xref: SNOMED CT:71404003 xref: UMLS:C0001529 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79382 ! Subcutaneous tissue disease property_value: alternative:term "Adiposalgia" xsd:string property_value: alternative:term "Adipose tissue rheumatism" xsd:string property_value: alternative:term "Dercum's disease" xsd:string property_value: alternative:term "Lipomatosis dolorosa" xsd:string property_value: alternative:term "Neurolipomatosis" xsd:string [Term] id: Orphanet:363972 name: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia xref: ICD10:Q87.1 xref: OMIM:613563 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:98733 ! Noonan syndrome and Noonan-related syndrome property_value: alternative:term "Noonan syndrome-like disorder with JMML" xsd:string [Term] id: Orphanet:363976 name: Giant cell tumor of bone is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:223727 ! Bone sarcoma property_value: alternative:term "GCT of bone" xsd:string [Term] id: Orphanet:363981 name: Charcot-Marie-Tooth disease type 4B3 xref: ICD10:G60.0 xref: OMIM:615284 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:64749 ! Charcot-Marie-Tooth disease type 4 property_value: alternative:term "Charcot-Marie-Tooth disease with focally folded myelin" xsd:string property_value: alternative:term "CMT4B3" xsd:string [Term] id: Orphanet:363989 name: Familial benign flecked retina xref: ICD10:H35.5 xref: OMIM:228980 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:71862 ! Retinal dystrophy [Term] id: Orphanet:363992 name: Ichthyosis-short stature-brachydactyly-microspherophakia syndrome xref: ICD10:Q93.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:281244 ! Autosomal ichthyosis syndrome with other associated signs property_value: alternative:term "15q26.3 microdeletion syndrome" xsd:string [Term] id: Orphanet:363999 name: Non-immune hydrops fetalis xref: ICD10:P56.9 xref: ICD10:P83.2 xref: OMIM:236750 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:1041 ! Hydrops fetalis property_value: alternative:term "Non-immune fetal edema" xsd:string property_value: alternative:term "Non-immune fetal hydrops" xsd:string property_value: alternative:term "Non-immune HF" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Non-immune hydrops fetalis (NIHF), a form of HF (see this term), is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders." xsd:string [Term] id: Orphanet:364 name: Glycogen storage disease due to glucose-6-phosphatase deficiency xref: ICD10:E74.0 xref: OMIM:232200 xref: OMIM:232220 xref: OMIM:232240 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:79201 ! Glycogen storage disease relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease property_value: alternative:term "G6P deficiency" xsd:string property_value: alternative:term "Glycogen storage disease due to G6P deficiency" xsd:string property_value: alternative:term "Glycogen storage disease type 1" xsd:string property_value: alternative:term "Glycogenosis type 1" xsd:string property_value: alternative:term "GSD due to G6P deficiency" xsd:string property_value: alternative:term "GSD type 1" xsd:string property_value: alternative:term "Hepatorenal glycogenosis" xsd:string property_value: alternative:term "Von Gierke disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." xsd:string [Term] id: Orphanet:364013 name: Immune hydrops fetalis xref: ICD10:P56.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:1041 ! Hydrops fetalis property_value: alternative:term "IHF" xsd:string property_value: alternative:term "Immune fetal edema" xsd:string property_value: alternative:term "Immune fetal hydrops" xsd:string property_value: alternative:term "Immune HF" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Immune hydrops fetalis (IHF), a form of HF (see this term), describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility." xsd:string [Term] id: Orphanet:364028 name: X-linked intellectual disability due to GRIA3 anomalies xref: OMIM:300699 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:364033 name: Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:171918 ! T-cell non-Hodgkin lymphoma relationship: part_of Orphanet:289644 ! Epstein-Barr virus-associated malignant lymphoproliferative disorder property_value: alternative:term "Systemic EBV+ T-cell LPD of childhood" xsd:string property_value: alternative:term "Systemic EBV-positive T-cell lymphoproliferative disease of childhood" xsd:string [Term] id: Orphanet:364039 name: Hydroa vacciniforme-like lymphoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:171918 ! T-cell non-Hodgkin lymphoma relationship: part_of Orphanet:289644 ! Epstein-Barr virus-associated malignant lymphoproliferative disorder [Term] id: Orphanet:364043 name: ALK-positive large B-cell lymphoma xref: ICD10:C83.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:544 ! Diffuse large B-cell lymphoma property_value: alternative:term "ALK+ large B-cell lymphoma" xsd:string property_value: alternative:term "ALK+ LBCL" xsd:string [Term] id: Orphanet:364055 name: Severe early-childhood-onset retinal dystrophy xref: ICD10:H35.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:71862 ! Retinal dystrophy property_value: alternative:term "Early-onset severe retinal dystrophy" xsd:string property_value: alternative:term "EOSRD" xsd:string property_value: alternative:term "SECORD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Severe early childhood onset retinal dystrophy (SECORD) is a mild form of Leber congenital amaurosis (LCA; see this term) that is characterized by a severe night blindness, nystagmus, and sluggish pupil responses. A relatively good central vision well into the second decade of life and blindness by the age of 30 years is generally observed." xsd:string [Term] id: Orphanet:364063 name: Infantile epileptic-dyskinetic encephalopathy xref: OMIM:308350 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:182079 ! ARX-related epileptic encephalopathy relationship: part_of Orphanet:98203 ! Combined dystonia [Term] id: Orphanet:36412 name: Hypocomplementemic urticarial vasculitis xref: ICD10:M31.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:156149 ! Immune complex mediated vasculitis relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "Anti-C1q vasculitis" xsd:string property_value: alternative:term "Mac Duffie hypocomplementemic urticarial vasculitis" xsd:string property_value: alternative:term "Mac Duffie syndrome" xsd:string property_value: alternative:term "McDuffie hypocomplementemic urticarial vasculitis" xsd:string property_value: alternative:term "McDuffie syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations." xsd:string [Term] id: Orphanet:364198 name: Bipartite talus xref: ICD10:Q66.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: part_of Orphanet:109011 ! Nonsyndromic limb malformation relationship: part_of Orphanet:364568 ! Dysostosis with limb anomaly as a major feature [Term] id: Orphanet:36426 name: Stevens-Johnson syndrome xref: ICD10:L51.1 xref: MEDDRA:10042033 xref: MESH:D013262 xref: OMIM:608579 xref: SNOMED CT:73442001 xref: UMLS:C0038325 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:95455 ! Toxic epidermal necrolysis property_value: alternative:term "Dermatostomatitis, Stevens Johnson type" xsd:string [Term] id: Orphanet:364285 name: ELMO/CED-12 domain containing 3 xref: ENSEMBL:ENSG00000115459 xref: HGNC:26158 xref: OMIM:615427 xref: UNIPROTKB/SWISSPROT:Q96FG2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:90636 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Autosomal recessive nonsyndromic sensorineural deafness type DFNB property_value: alternative:term "FLJ21977" xsd:string property_value: alternative:term "RBED1" xsd:string property_value: alternative:term "RBM29" xsd:string property_value: alternative:term "RNA binding motif and ELMO/CED-12 domain 1" xsd:string property_value: alternative:term "RNA binding motif protein 29" xsd:string property_value: symbol "ELMOD3" xsd:string [Term] id: Orphanet:364390 name: THO complex 6 homolog (Drosophila) xref: ENSEMBL:ENSG00000131652 xref: GENATLAS:THOC6 xref: HGNC:28369 xref: OMIM:615403 xref: UNIPROTKB/SWISSPROT:Q86W42 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363444 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type property_value: alternative:term "fSAP35" xsd:string property_value: alternative:term "functional spliceosome-associated protein 35" xsd:string property_value: alternative:term "MGC2655" xsd:string property_value: alternative:term "WD repeat domain 58" xsd:string property_value: alternative:term "WDR58" xsd:string property_value: symbol "THOC6" xsd:string [Term] id: Orphanet:364399 name: ceramide synthase 3 xref: ENSEMBL:ENSG00000154227 xref: GENATLAS:CERS3 xref: HGNC:23752 xref: OMIM:615276 xref: REACTOME:Q8IU89 xref: UNIPROTKB/SWISSPROT:Q8IU89 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:363992 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Ichthyosis-short stature-brachydactyly-microspherophakia syndrome property_value: alternative:term "LAG1 homolog, ceramide synthase 3" xsd:string property_value: alternative:term "LAG1 longevity assurance homolog 3 (S. cerevisiae)" xsd:string property_value: alternative:term "LASS3" xsd:string property_value: alternative:term "MGC27091" xsd:string property_value: symbol "CERS3" xsd:string [Term] id: Orphanet:364526 name: Primary bone dysplasia is_a: Orphanet:139012 ! Rare bone development disorder is_a: Orphanet:183524 ! Rare genetic bone disease is_a: Orphanet:93419 ! Rare bone disease property_value: alternative:term "Primary osteodysplasia" xsd:string property_value: alternative:term "Primary skeletal dysplasia" xsd:string [Term] id: Orphanet:364531 name: Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments is_a: Orphanet:364526 ! Primary bone dysplasia property_value: alternative:term "Primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments" xsd:string property_value: alternative:term "Primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments" xsd:string [Term] id: Orphanet:364536 name: Primary bone dysplasia with micromelia is_a: Orphanet:364526 ! Primary bone dysplasia property_value: alternative:term "Primary osteodysplasia with micromelia" xsd:string property_value: alternative:term "Primary skeletal dysplasia with micromelia" xsd:string [Term] id: Orphanet:364541 name: Fronto-otopalatodigital syndrome is_a: Orphanet:364526 ! Primary bone dysplasia is_a: Orphanet:93425 ! Filamin-related bone disorder property_value: alternative:term "Fronto-otopalatodigital osteodysplasia" xsd:string [Term] id: Orphanet:364559 name: Dysostosis is_a: Orphanet:139012 ! Rare bone development disorder is_a: Orphanet:183524 ! Rare genetic bone disease is_a: Orphanet:93419 ! Rare bone disease [Term] id: Orphanet:364562 name: SET binding factor 1 xref: ENSEMBL:ENSG00000100241 xref: GENATLAS:SBF1 xref: HGNC:10542 xref: OMIM:603560 xref: UNIPROTKB/SWISSPROT:O95248 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363981 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Charcot-Marie-Tooth disease type 4B3 property_value: alternative:term "DENN/MADD domain containing 7A" xsd:string property_value: alternative:term "DENND7A" xsd:string property_value: alternative:term "MTMR5" xsd:string property_value: alternative:term "myotubularin related 5" xsd:string property_value: symbol "SBF1" xsd:string [Term] id: Orphanet:364568 name: Dysostosis with limb anomaly as a major feature is_a: Orphanet:364559 ! Dysostosis [Term] id: Orphanet:364571 name: Dysostosis with limb and face anomalies as a major feature is_a: Orphanet:364568 ! Dysostosis with limb anomaly as a major feature [Term] id: Orphanet:364574 name: Acrofacial dysostosis is_a: Orphanet:364571 ! Dysostosis with limb and face anomalies as a major feature is_a: Orphanet:69028 ! Syndrome with brachydactyly [Term] id: Orphanet:364577 name: Intellectual disability-brachydactyly-Pierre Robin syndrome xref: OMIM:608670 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:138063 ! Syndrome associated with Pierre Robin syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly [Term] id: Orphanet:364602 name: growth differentiation factor 2 xref: ENSEMBL:ENSG00000128802 xref: GENATLAS:GDF2 xref: HGNC:4217 xref: OMIM:605120 xref: UNIPROTKB/SWISSPROT:Q9UK05 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:774 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary hemorrhagic telangiectasia property_value: alternative:term "BMP-9" xsd:string property_value: alternative:term "BMP9" xsd:string property_value: symbol "GDF2" xsd:string [Term] id: Orphanet:364667 name: transmembrane protease, serine 4 xref: ENSEMBL:ENSG00000137648 xref: GENATLAS:TMPRSS4 xref: HGNC:11878 xref: OMIM:606565 xref: UNIPROTKB/SWISSPROT:Q9NRS4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363969 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive cerebral atrophy property_value: alternative:term "Membrane-type serine protease 2" xsd:string property_value: alternative:term "MT-SP2" xsd:string property_value: alternative:term "TMPRSS3" xsd:string property_value: alternative:term "Transmembrane serine protease 3" xsd:string property_value: alternative:term "Type II membrane serine protease" xsd:string property_value: symbol "TMPRSS4" xsd:string [Term] id: Orphanet:364766 name: mitochondrially encoded tRNA asparagine xref: ENSEMBL:ENSG00000210135 xref: GENATLAS:MT-TN xref: HGNC:7493 xref: OMIM:590010 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:663 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Maternally-inherited progressive external ophthalmoplegia property_value: alternative:term "MTTN" xsd:string property_value: alternative:term "tRNA asparagine" xsd:string property_value: alternative:term "trnN" xsd:string property_value: symbol "MT-TN" xsd:string [Term] id: Orphanet:364789 name: FBJ murine osteosarcoma viral oncogene homolog xref: ENSEMBL:ENSG00000170345 xref: GENATLAS:FOS xref: HGNC:3796 xref: OMIM:164810 xref: REACTOME:P01100 xref: UNIPROTKB/SWISSPROT:P01100 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:528 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Berardinelli-Seip congenital lipodystrophy property_value: alternative:term "AP-1" xsd:string property_value: alternative:term "c-fos" xsd:string property_value: alternative:term "v-fos FBJ murine osteosarcoma viral oncogene homolog" xsd:string property_value: symbol "FOS" xsd:string [Term] id: Orphanet:364799 name: fibroblast growth factor 16 xref: ENSEMBL:ENSG00000196468 xref: GENATLAS:FGF16 xref: HGNC:3672 xref: OMIM:300827 xref: REACTOME:O43320 xref: UNIPROTKB/SWISSPROT:O43320 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2498 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Syndactyly type 8 property_value: symbol "FGF16" xsd:string [Term] id: Orphanet:364803 name: Rare bone disease related to a common gene or pathway defect is_a: Orphanet:183524 ! Rare genetic bone disease [Term] id: Orphanet:364817 name: Aggrecan-related bone disorder is_a: Orphanet:364803 ! Rare bone disease related to a common gene or pathway defect [Term] id: Orphanet:364820 name: TRPV4-related bone disorder is_a: Orphanet:364803 ! Rare bone disease related to a common gene or pathway defect [Term] id: Orphanet:364825 name: KIAA0319-like xref: ENSEMBL:ENSG00000142687 xref: GENATLAS:KIAA0319L xref: HGNC:30071 xref: OMIM:613535 xref: UNIPROTKB/SWISSPROT:Q8IZA0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:220402 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Limited cutaneous systemic sclerosis property_value: alternative:term "KIAA1837" xsd:string property_value: symbol "KIAA0319L" xsd:string [Term] id: Orphanet:364846 name: aspartyl-tRNA synthetase xref: ENSEMBL:ENSG00000115866 xref: GENATLAS:DARS xref: HGNC:2678 xref: OMIM:603084 xref: REACTOME:P14868 xref: UNIPROTKB/SWISSPROT:P14868 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363412 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypomyelination with brain stem and spinal cord involvement and leg spasticity property_value: alternative:term "aspartate tRNA ligase 1, cytoplasmic" xsd:string property_value: symbol "DARS" xsd:string [Term] id: Orphanet:365 name: Glycogen storage disease due to acid maltase deficiency xref: ICD10:E74.0 xref: MEDDRA:10053185 xref: MESH:D006009 xref: OMIM:232300 xref: SNOMED CT:124454007 xref: SNOMED CT:124462004 xref: SNOMED CT:237967002 xref: SNOMED CT:237968007 xref: UMLS:C0017921 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206959 ! Muscular glycogenosis relationship: part_of Orphanet:217572 ! Glycogen storage disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:217581 ! Lysosomal disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:217638 ! Lysosomal disease with restrictive cardiomyopathy relationship: part_of Orphanet:309337 ! Lysosomal glycogen storage disease relationship: part_of Orphanet:79201 ! Glycogen storage disease property_value: alternative:term "Alpha-1,4-glucosidase acid deficiency" xsd:string property_value: alternative:term "Glycogen storage disease type 2" xsd:string property_value: alternative:term "Glycogenosis due to acid maltase deficiency" xsd:string property_value: alternative:term "Glycogenosis type 2" xsd:string property_value: alternative:term "GSD due to acid maltase deficiency" xsd:string property_value: alternative:term "GSD type 2" xsd:string property_value: alternative:term "Pompe disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). Early onset forms are more severe and often fatal." xsd:string [Term] id: Orphanet:365084 name: chondroitin sulfate synthase 1 xref: ENSEMBL:ENSG00000131873 xref: GENATLAS:CHSY1 xref: HGNC:17198 xref: OMIM:608183 xref: REACTOME:Q86X52 xref: UNIPROTKB/SWISSPROT:Q86X52 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363417 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Temtamy preaxial brachydactyly syndrome property_value: alternative:term "Carbohydrate (chondroitin) synthase 1" xsd:string property_value: alternative:term "CSS1" xsd:string property_value: alternative:term "KIAA0990" xsd:string property_value: symbol "CHSY1" xsd:string [Term] id: Orphanet:365089 name: glutamate receptor, ionotropic, delta 2 xref: ENSEMBL:ENSG00000152208 xref: GENATLAS:GRID2 xref: HGNC:4576 xref: IUPHAR:449 xref: OMIM:602368 xref: UNIPROTKB/SWISSPROT:O43424 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363432 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency property_value: alternative:term "GluD2" xsd:string property_value: alternative:term "GluR-delta-2" xsd:string property_value: symbol "GRID2" xsd:string [Term] id: Orphanet:365096 name: IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) xref: ENSEMBL:ENSG00000181873 xref: GENATLAS:IBA57 xref: HGNC:27302 xref: OMIM:615316 xref: UNIPROTKB/SWISSPROT:Q5T440 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363424 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypotonia-cerebral atrophy-hyperglycinemia syndrome property_value: alternative:term "C1orf69" xsd:string property_value: alternative:term "Chromosome 1 open reading frame 69" xsd:string property_value: alternative:term "FLJ12734" xsd:string property_value: alternative:term "Iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa" xsd:string property_value: symbol "IBA57" xsd:string [Term] id: Orphanet:365105 name: bicaudal D homolog 2 (Drosophila) xref: ENSEMBL:ENSG00000185963 xref: GENATLAS:BICD2 xref: HGNC:17208 xref: OMIM:609797 xref: UNIPROTKB/SWISSPROT:Q8TD16 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363454 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures property_value: alternative:term "KIAA0699" xsd:string property_value: symbol "BICD2" xsd:string [Term] id: Orphanet:365113 name: component of oligomeric golgi complex 6 xref: ENSEMBL:ENSG00000133103 xref: GENATLAS:COG6 xref: HGNC:18621 xref: OMIM:606977 xref: UNIPROTKB/SWISSPROT:Q9Y2V7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363523 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome property_value: alternative:term "COD2" xsd:string property_value: alternative:term "KIAA1134" xsd:string property_value: symbol "COG6" xsd:string [Term] id: Orphanet:365118 name: adenosine deaminase, tRNA-specific 3 xref: ENSEMBL:ENSG00000213638 xref: GENATLAS:ADAT3 xref: HGNC:25151 xref: OMIM:615302 xref: UNIPROTKB/SWISSPROT:Q96EY9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363528 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intellectual disability-strabismus syndrome property_value: alternative:term "Adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "TAD3" xsd:string property_value: alternative:term "tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)" xsd:string property_value: symbol "ADAT3" xsd:string [Term] id: Orphanet:365126 name: adenosine A2a receptor xref: ENSEMBL:ENSG00000128271 xref: GENATLAS:ADORA2A xref: HGNC:263 xref: IUPHAR:19 xref: OMIM:102776 xref: REACTOME:P29274 xref: UNIPROTKB/SWISSPROT:P29274 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:363549 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute encephalopathy with biphasic seizures and late reduced diffusion property_value: alternative:term "ADORA2" xsd:string property_value: alternative:term "RDC8" xsd:string property_value: symbol "ADORA2A" xsd:string [Term] id: Orphanet:365130 name: CCCTC-binding factor (zinc finger protein) xref: ENSEMBL:ENSG00000102974 xref: GENATLAS:CTCF xref: HGNC:13723 xref: OMIM:604167 xref: UNIPROTKB/SWISSPROT:P49711 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363611 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome property_value: alternative:term "11 zinc finger transcriptional repressor" xsd:string property_value: symbol "CTCF" xsd:string [Term] id: Orphanet:365133 name: polymerase (DNA directed), delta 1, catalytic subunit xref: ENSEMBL:ENSG00000062822 xref: GENATLAS:POLD1 xref: HGNC:9175 xref: OMIM:174761 xref: REACTOME:P28340 xref: UNIPROTKB/SWISSPROT:P28340 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363649 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mandibular hypoplasia-deafness-progeroid syndrome property_value: alternative:term "CDC2" xsd:string property_value: alternative:term "CDC2 homolog (S. cerevisiae)" xsd:string property_value: alternative:term "POLD" xsd:string property_value: alternative:term "Polymerase (DNA directed), delta 1, catalytic subunit (125kD)" xsd:string property_value: symbol "POLD1" xsd:string [Term] id: Orphanet:365159 name: seryl-tRNA synthetase 2, mitochondrial xref: ENSEMBL:ENSG00000104835 xref: GENATLAS:SARS2 xref: HGNC:17697 xref: OMIM:612804 xref: REACTOME:Q9NP81 xref: UNIPROTKB/SWISSPROT:Q9NP81 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363694 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome property_value: alternative:term "FLJ20450" xsd:string property_value: alternative:term "mtSerRS" xsd:string property_value: alternative:term "SARS" xsd:string property_value: alternative:term "SARSM" xsd:string property_value: alternative:term "serine tRNA ligase 2, mitochondrial" xsd:string property_value: alternative:term "serine-tRNA ligase, mitochondrial" xsd:string property_value: alternative:term "SerRSmt" xsd:string property_value: alternative:term "SERS" xsd:string property_value: alternative:term "seryl-tRNA synthetase 2" xsd:string property_value: alternative:term "SYS" xsd:string property_value: symbol "SARS2" xsd:string [Term] id: Orphanet:365563 name: Primary short bowel syndrome xref: ICD10:Q41 is_a: Orphanet:104008 ! Short bowel syndrome is_a: Orphanet:165655 ! Genetic intestinal disease [Term] id: Orphanet:365642 name: spinocerebellar ataxia 37 xref: HGNC:43726 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:363710 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Spinocerebellar ataxia with altered vertical eye movements property_value: symbol "SCA37" xsd:string [Term] id: Orphanet:366 name: Glycogen storage disease due to glycogen debranching enzyme deficiency xref: ICD10:E74.0 xref: OMIM:232400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206959 ! Muscular glycogenosis relationship: part_of Orphanet:217572 ! Glycogen storage disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:79201 ! Glycogen storage disease property_value: alternative:term "Amylo-1,6-glucosidase deficiency" xsd:string property_value: alternative:term "Cori disease" xsd:string property_value: alternative:term "Cori-Forbes disease" xsd:string property_value: alternative:term "Forbe disease" xsd:string property_value: alternative:term "GDE deficiency" xsd:string property_value: alternative:term "Glycogen storage disease type 3" xsd:string property_value: alternative:term "Glycogenosis due to glycogen debranching enzyme deficiency" xsd:string property_value: alternative:term "Glycogenosis type 3" xsd:string property_value: alternative:term "GSD due to glycogen debranching enzyme deficiency" xsd:string property_value: alternative:term "GSD type 3" xsd:string property_value: alternative:term "GSDIII" xsd:string property_value: alternative:term "Limit dextrinosis" xsd:string [Term] id: Orphanet:366823 name: paired box 5 xref: ENSEMBL:ENSG00000196092 xref: GENATLAS:PAX5 xref: HGNC:8619 xref: OMIM:167414 xref: UNIPROTKB/SWISSPROT:Q02548 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:99860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor B-cell acute lymphoblastic leukemia relationship: Orphanet:317348 Orphanet:99860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor B-cell acute lymphoblastic leukemia property_value: alternative:term "B-cell lineage specific activator" xsd:string property_value: alternative:term "BSAP" xsd:string property_value: alternative:term "paired box gene 5 (B-cell lineage specific activator protein)" xsd:string property_value: alternative:term "paired box gene 5 (B-cell lineage specific activator)" xsd:string property_value: symbol "PAX5" xsd:string [Term] id: Orphanet:367 name: Glycogen storage disease due to glycogen branching enzyme deficiency xref: ICD10:E74.0 xref: OMIM:232500 xref: OMIM:263570 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:206959 ! Muscular glycogenosis relationship: part_of Orphanet:217607 ! Familial dilated cardiomyopathy relationship: part_of Orphanet:79201 ! Glycogen storage disease property_value: alternative:term "Amylopectinosis" xsd:string property_value: alternative:term "Andersen disease" xsd:string property_value: alternative:term "Glycogen storage disease type 4" xsd:string property_value: alternative:term "Glycogenosis due to glycogen branching enzyme deficiency" xsd:string property_value: alternative:term "Glycogenosis type 4" xsd:string property_value: alternative:term "GSD due to glycogen branching enzyme deficiency" xsd:string property_value: alternative:term "GSD type 4" xsd:string [Term] id: Orphanet:367084 name: BUB1 mitotic checkpoint serine/threonine kinase xref: ENSEMBL:ENSG00000169679 xref: GENATLAS:BUB1 xref: HGNC:1148 xref: IUPHAR:1949 xref: OMIM:602452 xref: REACTOME:O43683 xref: UNIPROTKB/SWISSPROT:O43683 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1052 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mosaic variegated aneuploidy syndrome property_value: alternative:term "BUB1A" xsd:string property_value: alternative:term "BUB1L" xsd:string property_value: alternative:term "budding uninhibited by benzimidazoles 1 (yeast homolog)" xsd:string property_value: alternative:term "budding uninhibited by benzimidazoles 1 homolog (yeast)" xsd:string property_value: alternative:term "hBUB1" xsd:string property_value: symbol "BUB1" xsd:string [Term] id: Orphanet:367095 name: BUB3 mitotic checkpoint protein xref: ENSEMBL:ENSG00000154473 xref: GENATLAS:BUB3 xref: HGNC:1151 xref: OMIM:603719 xref: REACTOME:O43684 xref: UNIPROTKB/SWISSPROT:O43684 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1052 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mosaic variegated aneuploidy syndrome property_value: alternative:term "BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog" xsd:string property_value: alternative:term "BUB3L" xsd:string property_value: alternative:term "budding uninhibited by benzimidazoles 3 homolog (yeast)" xsd:string property_value: symbol "BUB3" xsd:string [Term] id: Orphanet:367100 name: G protein-coupled receptor 35 xref: ENSEMBL:ENSG00000178623 xref: GENATLAS:GPR35 xref: HGNC:4492 xref: IUPHAR:102 xref: OMIM:602646 xref: UNIPROTKB/SWISSPROT:Q9HC97 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:171 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary sclerosing cholangitis property_value: symbol "GPR35" xsd:string [Term] id: Orphanet:367104 name: macrophage stimulating 1 (hepatocyte growth factor-like) xref: ENSEMBL:ENSG00000173531 xref: GENATLAS:MST1 xref: HGNC:7380 xref: OMIM:142408 xref: UNIPROTKB/SWISSPROT:P26927 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:171 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary sclerosing cholangitis property_value: alternative:term "D3F15S2" xsd:string property_value: alternative:term "DNF15S2" xsd:string property_value: alternative:term "Hepatocyte growth factor-like protein homolog" xsd:string property_value: alternative:term "HGFL" xsd:string property_value: alternative:term "MSP" xsd:string property_value: alternative:term "NF15S2" xsd:string property_value: symbol "MST1" xsd:string [Term] id: Orphanet:367619 name: chromosome 21 open reading frame 59 xref: ENSEMBL:ENSG00000159079 xref: GENATLAS:C21orf59 xref: HGNC:1301 xref: OMIM:615494 xref: UNIPROTKB/SWISSPROT:P57076 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "C21orf48" xsd:string property_value: alternative:term "Chromosome 21 open reading frame 48" xsd:string property_value: alternative:term "FBB18" xsd:string property_value: alternative:term "FLJ20467" xsd:string property_value: symbol "C21ORF59" xsd:string [Term] id: Orphanet:367625 name: coiled-coil domain containing 65 xref: ENSEMBL:ENSG00000139537 xref: GENATLAS:CCDC65 xref: HGNC:29937 xref: OMIM:611088 xref: UNIPROTKB/SWISSPROT:Q8IXS2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "FAP250" xsd:string property_value: alternative:term "FLJ35732" xsd:string property_value: alternative:term "NYD-SP28" xsd:string property_value: symbol "CCDC65" xsd:string [Term] id: Orphanet:367631 name: sperm associated antigen 1 xref: ENSEMBL:ENSG00000104450 xref: GENATLAS:SPAG1 xref: HGNC:11212 xref: OMIM:603395 xref: UNIPROTKB/SWISSPROT:Q07617 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:244 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Primary ciliary dyskinesia property_value: alternative:term "CT140" xsd:string property_value: alternative:term "FLJ32920" xsd:string property_value: alternative:term "HSD-3.8" xsd:string property_value: alternative:term "SP75" xsd:string property_value: alternative:term "TPIS" xsd:string property_value: symbol "SPAG1" xsd:string [Term] id: Orphanet:368 name: Glycogen storage disease due to muscle glycogen phosphorylase deficiency xref: ICD10:E74.0 xref: MEDDRA:10018462 xref: MESH:C537276 xref: MESH:D006012 xref: OMIM:232600 xref: SNOMED CT:55912009 xref: UMLS:C0017924 xref: UMLS:C2936916 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206959 ! Muscular glycogenosis relationship: part_of Orphanet:79201 ! Glycogen storage disease property_value: alternative:term "Glycogen storage disease type 5" xsd:string property_value: alternative:term "Glycogenosis due to muscle glycogen phosphorylase deficiency" xsd:string property_value: alternative:term "Glycogenosis type 5" xsd:string property_value: alternative:term "GSD due to muscle glycogen phosphorylase deficiency" xsd:string property_value: alternative:term "GSD type 5" xsd:string property_value: alternative:term "McArdle disease" xsd:string property_value: alternative:term "Myophosphorylase deficiency" xsd:string [Term] id: Orphanet:368101 name: ATP/GTP binding protein-like 1 xref: ENSEMBL:ENSG00000166748 xref: GENATLAS:AGBL1 xref: HGNC:26504 xref: OMIM:615496 xref: UNIPROTKB/SWISSPROT:Q96MI9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98974 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Fuchs endothelial corneal dystrophy property_value: alternative:term "FLJ32310" xsd:string property_value: symbol "AGBL1" xsd:string [Term] id: Orphanet:368114 name: retinoic acid receptor, beta xref: ENSEMBL:ENSG00000077092 xref: GENATLAS:RARB xref: HGNC:9865 xref: IUPHAR:591 xref: OMIM:180220 xref: REACTOME:P10826 xref: UNIPROTKB/SWISSPROT:P10826 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2470 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Matthew-Wood syndrome property_value: alternative:term "HAP" xsd:string property_value: alternative:term "NR1B2" xsd:string property_value: alternative:term "RRB2" xsd:string property_value: symbol "RARB" xsd:string [Term] id: Orphanet:368150 name: NIMA-related kinase 2 xref: ENSEMBL:ENSG00000117650 xref: GENATLAS:NEK2 xref: HGNC:7745 xref: IUPHAR:2117 xref: OMIM:604043 xref: REACTOME:P51955 xref: UNIPROTKB/SWISSPROT:P51955 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:791 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Retinitis pigmentosa property_value: alternative:term "HsPK 21" xsd:string property_value: alternative:term "NEK2A" xsd:string property_value: alternative:term "NIMA (never in mitosis gene a)-related kinase 2" xsd:string property_value: alternative:term "NLK1" xsd:string property_value: symbol "NEK2" xsd:string [Term] id: Orphanet:36899 name: Myoclonus-dystonia syndrome xref: ICD10:G24.1 xref: ICD10:G25.3 xref: MESH:C536096 xref: OMIM:159900 xref: SNOMED CT:439732004 xref: UMLS:C1834570 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:306750 ! Primary myoclonus relationship: part_of Orphanet:98203 ! Combined dystonia property_value: alternative:term "Alcohol-responsive dystonia" xsd:string property_value: alternative:term "DYT11" xsd:string property_value: alternative:term "Hereditary essential myoclonus" xsd:string property_value: alternative:term "Myoclonic dystonia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks." xsd:string [Term] id: Orphanet:369 name: Glycogen storage disease due to liver glycogen phosphorylase deficiency xref: ICD10:E74.0 xref: OMIM:232700 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:79201 ! Glycogen storage disease property_value: alternative:term "Glycogen storage disease type 6B" xsd:string property_value: alternative:term "Glycogenosis due to liver glycogen phosphorylase deficiency" xsd:string property_value: alternative:term "Glycogenosis type 6B" xsd:string property_value: alternative:term "GSD due to liver glycogen phosphorylase deficiency" xsd:string property_value: alternative:term "GSD type 6B" xsd:string property_value: alternative:term "Hepatic glycogen phosphorylase deficiency" xsd:string property_value: alternative:term "Hepatic phosphorylase deficiency" xsd:string property_value: alternative:term "Hers disease" xsd:string property_value: alternative:term "Liver glycogen phosphorylase deficiency" xsd:string [Term] id: Orphanet:36913 name: Autoimmune hypoparathyroidism xref: ICD10:E20.8 xref: SNOMED CT:75316000 xref: UMLS:C0271865 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:181405 ! Rare hypoparathyroidism [Term] id: Orphanet:369265 name: tumor necrosis factor (ligand) superfamily, member 4 xref: ENSEMBL:ENSG00000117586 xref: GENATLAS:TNFSF4 xref: HGNC:11934 xref: OMIM:603594 xref: UNIPROTKB/SWISSPROT:P23510 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:2073 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Narcolepsy-cataplexy property_value: alternative:term "CD252" xsd:string property_value: alternative:term "gp34" xsd:string property_value: alternative:term "OX-40L" xsd:string property_value: alternative:term "Tax-transcriptionally activated glycoprotein 1, 34kD" xsd:string property_value: alternative:term "TXGP1" xsd:string property_value: symbol "TNFSF4" xsd:string [Term] id: Orphanet:369311 name: secreted phosphoprotein 1 xref: ENSEMBL:ENSG00000118785 xref: GENATLAS:SPP1 xref: HGNC:11255 xref: OMIM:166490 xref: REACTOME:P10451 xref: UNIPROTKB/SWISSPROT:P10451 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:93552 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Pediatric systemic lupus erythematosus property_value: alternative:term "BNSP" xsd:string property_value: alternative:term "Bone sialoprotein I" xsd:string property_value: alternative:term "BSPI" xsd:string property_value: alternative:term "Early T-lymphocyte activation 1" xsd:string property_value: alternative:term "ETA-1" xsd:string property_value: alternative:term "OPN" xsd:string property_value: alternative:term "Osteopontin" xsd:string property_value: symbol "SPP1" xsd:string [Term] id: Orphanet:369336 name: interleukin-1 receptor-associated kinase 1 xref: ENSEMBL:ENSG00000184216 xref: GENATLAS:IRAK1 xref: HGNC:6112 xref: IUPHAR:2042 xref: OMIM:300283 xref: REACTOME:P51617 xref: UNIPROTKB/SWISSPROT:P51617 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:93552 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Pediatric systemic lupus erythematosus property_value: alternative:term "IRAK" xsd:string property_value: alternative:term "pelle" xsd:string property_value: symbol "IRAK1" xsd:string [Term] id: Orphanet:369806 name: multiple C2 domains, transmembrane 2 xref: ENSEMBL:ENSG00000140563 xref: GENATLAS:MCTP2 xref: HGNC:25636 xref: UNIPROTKB/SWISSPROT:Q6DN12 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:1596 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Distal monosomy 15q property_value: alternative:term "FLJ11175" xsd:string property_value: alternative:term "FLJ33303" xsd:string property_value: symbol "MCTP2" xsd:string [Term] id: Orphanet:369810 name: leucine-zipper-like transcription regulator 1 xref: ENSEMBL:ENSG00000099949 xref: GENATLAS:LZTR1 xref: HGNC:6742 xref: OMIM:600574 xref: UNIPROTKB/SWISSPROT:Q8N653 is_a: Orphanet:C010 ! gene relationship: Orphanet:317344 Orphanet:251576 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gliosarcoma relationship: Orphanet:317344 Orphanet:251579 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Giant cell glioblastoma property_value: alternative:term "BTBD29" xsd:string property_value: alternative:term "Leucine-zipper-like transcriptional regulator 1" xsd:string property_value: alternative:term "LZTR-1" xsd:string property_value: symbol "LZTR1" xsd:string [Term] id: Orphanet:369815 name: septin 14 xref: ENSEMBL:ENSG00000154997 xref: GENATLAS:SEPT14 xref: HGNC:33280 xref: OMIM:612140 xref: UNIPROTKB/SWISSPROT:Q6ZU15 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:251576 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Gliosarcoma relationship: Orphanet:317348 Orphanet:251579 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Giant cell glioblastoma property_value: alternative:term "FLJ44060" xsd:string property_value: symbol "SEPT14" xsd:string [Term] id: Orphanet:369837 name: Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome xref: OMIM:615398 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:93440 ! Slender bone dysplasia [Term] id: Orphanet:369840 name: Autosomal recessive limb-girdle muscular dystrophy type 2S xref: ICD10:G71.0 xref: OMIM:615356 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102015 ! Autosomal recessive limb-girdle muscular dystrophy property_value: alternative:term "LGMD2S" xsd:string [Term] id: Orphanet:369847 name: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183521 ! Rare genetic movement disorder relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:306715 ! Rare choreic movement disorder [Term] id: Orphanet:369852 name: Recurrent infections-myelofibrosis-nephromegaly syndrome xref: OMIM:615285 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:331184 ! Constitutional neutropenia with extra-haematopoietic manifestations property_value: alternative:term "Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" xsd:string property_value: alternative:term "Congenital neutropenia-myelofibrosis-nephromegaly syndrome" xsd:string property_value: alternative:term "Recurrent infections-bone marrow fibrosis-nephromegaly syndrome" xsd:string [Term] id: Orphanet:369861 name: Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:331244 ! Other immunodeficiency syndrome with predominantly antibody defects relationship: part_of Orphanet:98362 ! Constitutional sideroblastic anemia property_value: alternative:term "SFID syndrome" xsd:string [Term] id: Orphanet:369867 name: Autosomal recessive intermediate Charcot-Marie-Tooth disease type C xref: ICD10:G60.0 xref: OMIM:615376 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:268337 ! Autosomal recessive intermediate Charcot-Marie-Tooth disease property_value: alternative:term "RI-CMT type C" xsd:string [Term] id: Orphanet:369873 name: Obesity due to SIM1 deficiency xref: ICD10:E66.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98267 ! Nonsyndromic obesity [Term] id: Orphanet:369881 name: 2p21 microdeletion syndrome without cystinuria xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:369886 ! Homozygous 2p21 microdeletion syndrome property_value: alternative:term "Del(2)(p21) without cystinuria" xsd:string [Term] id: Orphanet:369886 name: Homozygous 2p21 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:261866 ! Partial deletion of the short arm of chromosome 2 property_value: alternative:term "2p21 contiguous gene deletion syndrome" xsd:string [Term] id: Orphanet:369891 name: Cardiac anomalies-developmental delay-facial dysmorphism syndrome is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:156532 ! Rare syndrome with cardiac malformations relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:271853 ! Genetic cardiac anomaly [Term] id: Orphanet:369894 name: Early infantile epileptic encephalopathy without suppression burst xref: OMIM:615476 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:166472 ! Monogenic disease with epilepsy relationship: part_of Orphanet:98257 ! Neonatal epilepsy syndrome relationship: part_of Orphanet:98258 ! Infantile epilepsy syndrome [Term] id: Orphanet:369897 name: Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies xref: ICD10:E88.8 xref: OMIM:615471 is_a: Orphanet:254803 ! Mitochondrial DNA depletion syndrome, encephalomyopathic form relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 property_value: alternative:term "mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies" xsd:string [Term] id: Orphanet:369902 name: Orofaciodigital syndrome type 14 xref: ICD10:Q87.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:140997 ! Orofaciodigital syndrome property_value: alternative:term "OFD14" xsd:string property_value: alternative:term "Oral-facial-digital syndrome type 14" xsd:string [Term] id: Orphanet:369913 name: Combined oxidative phosphorylation defect type 17 xref: ICD10:E88.8 xref: OMIM:615440 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:217587 ! Mitochondrial disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis property_value: alternative:term "COXPD17" xsd:string [Term] id: Orphanet:369920 name: Pontocerebellar hypoplasia type 9 xref: ICD10:Q04.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98523 ! Nonsyndromic pontocerebellar hypoplasia property_value: alternative:term "PCH9" xsd:string [Term] id: Orphanet:369929 name: Aldosterone-producing adenoma with seizures and neurological abnormalities xref: OMIM:615474 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:231637 ! Rare surgically correctable form of primary aldosteronism relationship: part_of Orphanet:371861 ! Genetic hyperaldosteronism property_value: alternative:term "Aldosterone-secreting adenoma with seizures and neurological abnormalities" xsd:string property_value: alternative:term "APA with seizures and neurological abnormalities" xsd:string property_value: alternative:term "Conn adenoma with seizures and neurological abnormalities" xsd:string [Term] id: Orphanet:369939 name: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome xref: ICD10:Q87.8 xref: OMIM:300475 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:370106 ! Rare disorder with dystonia and other neurologic or systemic manifestation relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:369942 name: CADDS xref: ICD10:Q87.8 xref: OMIM:300475 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:139009 ! Developmental anomaly of metabolic origin relationship: part_of Orphanet:68356 ! Leukodystrophy relationship: part_of Orphanet:68373 ! Peroxisomal disease relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "Contiguous ABCD1 DXS1357E deletion syndrome" xsd:string property_value: alternative:term "Zellweger-like contiguous gene deletion syndrome" xsd:string [Term] id: Orphanet:369950 name: Intellectual disability-seizures-macrocephaly-obesity syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:240371 ! Syndromic obesity relationship: part_of Orphanet:263708 ! Complex chromosomal rearrangement property_value: alternative:term "Der(8)t(8;12)" xsd:string [Term] id: Orphanet:369955 name: Methylmalonic acidemia with homocystinuria, type cblJ xref: ICD10:E71.1 xref: OMIM:614857 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:26 ! Methylmalonic acidemia with homocystinuria property_value: alternative:term "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ" xsd:string property_value: alternative:term "Methylmalonic aciduria with homocystinuria, type cblJ" xsd:string [Term] id: Orphanet:369962 name: Methylmalonic acidemia with homocystinuria, type cblX xref: ICD10:E71.1 xref: OMIM:309541 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:26 ! Methylmalonic acidemia with homocystinuria property_value: alternative:term "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX" xsd:string property_value: alternative:term "Methylmalonic aciduria with homocystinuria, type cblX" xsd:string [Term] id: Orphanet:369970 name: Microcornea-myopic chorioretinal atrophy-telecanthus syndrome xref: ICD10:Q15.8 xref: OMIM:615458 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183557 ! Genetic developmental defect of the eye relationship: part_of Orphanet:71862 ! Retinal dystrophy relationship: part_of Orphanet:98553 ! Developmental defect of the eye property_value: alternative:term "MMCAT syndrome" xsd:string [Term] id: Orphanet:369979 name: Fingers hyperphalangy-toes anomalies-severe pectus excavatum syndrome xref: ICD10:Q87.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy [Term] id: Orphanet:369992 name: Severe dermatitis-multiple allergies-metabolic wasting syndrome xref: OMIM:615508 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:331217 ! Other immunodeficiency syndrome due to defects in adaptive immunity relationship: part_of Orphanet:79359 ! Other epidermis disorder relationship: part_of Orphanet:79360 ! Other genetic epidermal disease relationship: part_of Orphanet:98050 ! Rare allergic disease property_value: alternative:term "SAM syndrome" xsd:string [Term] id: Orphanet:369999 name: Diffuse palmoplantar keratoderma with painful fissures xref: ICD10:Q82.8 xref: OMIM:148700 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98349 ! Autosomal dominant isolated diffuse palmoplantar keratoderma [Term] id: Orphanet:37 name: Acrodermatitis enteropathica, zinc deficiency type xref: ICD10:E83.2 xref: OMIM:201100 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:104005 ! Intestinal disease due to fat malabsorption relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:309845 ! Disorder of zinc metabolism relationship: part_of Orphanet:363306 ! Genetic intestinal disease due to fat malabsorption relationship: part_of Orphanet:79217 ! Other metabolic disease with skin involvement relationship: part_of Orphanet:79387 ! Metabolic disease with skin involvement property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acrodermatitis enteropathica is an autosomal recessive disease due to a partial disorder of intestinal zinc uptake. Signs usually appear within the first months of life, with a characteristic cutaneous rash that is symmetrical, located around the body orifices, behind the ears, and on hands, feet, and head. Disorders of the mucous membranes include gingivitis, stomatitis and glossitis." xsd:string [Term] id: Orphanet:370 name: Glycogen storage disease due to phosphorylase kinase deficiency xref: ICD10:E74.0 xref: OMIM:261750 xref: OMIM:300559 xref: OMIM:306000 xref: OMIM:613027 is_a: Orphanet:79201 ! Glycogen storage disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "Glycogen storage disease due to PhK deficiency" xsd:string property_value: alternative:term "Glycogen storage disease type 9" xsd:string property_value: alternative:term "Glycogen storage disease type IX" xsd:string property_value: alternative:term "Glycogenosis due to phosphorylase kinase deficiency" xsd:string property_value: alternative:term "Glycogenosis type 9" xsd:string property_value: alternative:term "Glycogenosis type IX" xsd:string property_value: alternative:term "GSD due to phosphorylase kinase deficiency" xsd:string property_value: alternative:term "GSD type 9" xsd:string property_value: alternative:term "GSD type IX" xsd:string property_value: alternative:term "Gycogenosis due to PhK deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency (see these terms)." xsd:string [Term] id: Orphanet:370002 name: Focal palmoplantar keratoderma with joint keratoses xref: ICD10:Q82.8 xref: OMIM:148700 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:307846 ! Isolated focal palmoplantar keratoderma [Term] id: Orphanet:370006 name: Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:269528 ! Syndrome with microcephaly as major feature relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:95495 ! Disease associated with nonacquired combined pituitary hormone deficiency [Term] id: Orphanet:370010 name: Intellectual disability-facial dysmorphism-hand anomalies syndrome xref: ICD10:Q87.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:370015 name: Spondyloepimetaphyseal dysplasia, Isidor type xref: ICD10:Q77.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia [Term] id: Orphanet:370019 name: Spondylometaphyseal dysplasia, Czarny-Ratajczak type xref: ICD10:Q77.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254 ! Spondylometaphyseal dysplasia [Term] id: Orphanet:370022 name: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:269523 ! Syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:269567 ! Genetic syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:98688 ! Oculomotor apraxia or related oculomotor disease [Term] id: Orphanet:370026 name: Acute myeloid leukemia with t(8;16)(p11;p13) translocation xref: ICD10:C92.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98277 ! Acute myeloid leukemia with recurrent genetic anomaly [Term] id: Orphanet:370034 name: Familial syringomyelia xref: ICD10:G95.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:183515 ! Rare genetic medullar disease relationship: part_of Orphanet:3280 ! Syringomyelia [Term] id: Orphanet:370039 name: Angora hair nevus is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294057 ! Rare nevus property_value: alternative:term "Schauder syndrome" xsd:string [Term] id: Orphanet:370046 name: Didymosis aplasticosebacea xref: ICD10:Q84.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294057 ! Rare nevus property_value: alternative:term "Aplasia cutis congenita-nevus sebaceus syndrome" xsd:string [Term] id: Orphanet:370052 name: SCALP syndrome xref: ICD10:Q84.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294057 ! Rare nevus property_value: alternative:term "Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome" xsd:string property_value: alternative:term "Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome" xsd:string [Term] id: Orphanet:370059 name: NEVADA syndrome xref: ICD10:Q84.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:294057 ! Rare nevus property_value: alternative:term "Nevus epidermicus verrucosus with angiodysplasia and aneurysms" xsd:string [Term] id: Orphanet:370064 name: v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 xref: ENSEMBL:ENSG00000178568 xref: GENATLAS:ERBB4 xref: HGNC:3432 xref: IUPHAR:1799 xref: OMIM:600543 xref: REACTOME:Q15303 xref: UNIPROTKB/SWISSPROT:Q15303 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:803 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Amyotrophic lateral sclerosis property_value: alternative:term "ALS19" xsd:string property_value: alternative:term "v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4" xsd:string property_value: symbol "ERBB4" xsd:string [Term] id: Orphanet:370068 name: Fetal anticonvulsant syndrome xref: ICD10:Q86.8 is_a: Orphanet:251529 ! Toxic or drug-related embryofetopathy property_value: alternative:term "FACS" xsd:string property_value: alternative:term "Fetal AEDS" xsd:string property_value: alternative:term "Fetal anti-epileptic drug syndrome" xsd:string [Term] id: Orphanet:370076 name: Fetal carbamazepine syndrome xref: ICD10:Q86.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:370068 ! Fetal anticonvulsant syndrome [Term] id: Orphanet:370079 name: Proximal 16p11.2 microduplication syndrome xref: ICD10:Q92.3 xref: OMIM:614671 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:262794 ! Partial duplication of the short arm of chromosome 16 property_value: alternative:term "Proximal dup(16)(p11.2)" xsd:string property_value: alternative:term "Proximal trisomy 16p11.2" xsd:string [Term] id: Orphanet:370088 name: Acute infantile liver failure-multisystemic involvement syndrome xref: OMIM:615438 xref: OMIM:615486 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101939 ! Rare parenchymatous liver disease relationship: part_of Orphanet:156604 ! Genetic parenchymatous liver disease [Term] id: Orphanet:370091 name: Oculocutaneous albinism type 5 xref: ICD10:E70.3 xref: OMIM:615312 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:55 ! Oculocutaneous albinism property_value: alternative:term "OCA5" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Oculocutaneous albinism type 5 (OCA5) is a type of OCA (see this term) found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered." xsd:string [Term] id: Orphanet:370097 name: Oculocutaneous albinism type 6 xref: ICD10:E70.3 xref: OMIM:113750 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:55 ! Oculocutaneous albinism property_value: alternative:term "OCA6" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " gene (15q21.1)." xsd:string [Term] id: Orphanet:370103 name: Primary dystonia, DYT17 type xref: ICD10:G24.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:1866 ! Focal, segmental or multifocal dystonia [Term] id: Orphanet:370106 name: Rare disorder with dystonia and other neurologic or systemic manifestation is_a: Orphanet:68363 ! Rare dystonia [Term] id: Orphanet:370109 name: Ataxia-telangiectasia variant xref: ICD10:G11.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98203 ! Combined dystonia property_value: alternative:term "v-AT" xsd:string [Term] id: Orphanet:370114 name: Combined cervical dystonia xref: ICD10:G24.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98203 ! Combined dystonia [Term] id: Orphanet:370127 name: Medich giant platelet syndrome xref: ICD10:D69.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98455 ! Alpha granule disease property_value: alternative:term "Medich macrothrombocytopenia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding." xsd:string [Term] id: Orphanet:370131 name: White platelet syndrome xref: ICD10:D69.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98455 ! Alpha granule disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding." xsd:string [Term] id: Orphanet:370330 name: ER membrane-associated RNA degradation xref: ENSEMBL:ENSG00000130023 xref: GENATLAS:C6orf70 xref: HGNC:21056 xref: OMIM:615532 xref: UNIPROTKB/SWISSPROT:Q5T6L9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:98892 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Periventricular nodular heterotopia relationship: Orphanet:317349 Orphanet:75857 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! 6q terminal deletion syndrome property_value: alternative:term "C6orf70" xsd:string property_value: alternative:term "Chromosome 6 open reading frame 70" xsd:string property_value: alternative:term "dJ266L20.3" xsd:string property_value: alternative:term "FLJ11152" xsd:string property_value: symbol "ERMARD" xsd:string [Term] id: Orphanet:370334 name: Extraskeletal Ewing sarcoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:3394 ! Soft tissue sarcoma property_value: alternative:term "EOE" xsd:string property_value: alternative:term "Extraosseous Ewing sarcoma" xsd:string property_value: alternative:term "Extraosseous Ewing tumor" xsd:string property_value: alternative:term "Extraskeletal Ewing tumor" xsd:string [Term] id: Orphanet:370348 name: Peripheral primitive neuroectodermal tumor is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:223727 ! Bone sarcoma property_value: alternative:term "Peripheral PNET" xsd:string property_value: alternative:term "PPNET" xsd:string [Term] id: Orphanet:370364 name: TRAF3 interacting protein 2 xref: ENSEMBL:ENSG00000056972 xref: GENATLAS:TRAF3IP2 xref: HGNC:1343 xref: OMIM:607043 xref: UNIPROTKB/SWISSPROT:O43734 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Chronic mucocutaneous candidiasis property_value: alternative:term "ACT1" xsd:string property_value: alternative:term "C6orf2" xsd:string property_value: alternative:term "C6orf4" xsd:string property_value: alternative:term "C6orf5" xsd:string property_value: alternative:term "C6orf6" xsd:string property_value: alternative:term "Chromosome 6 open reading frame 2" xsd:string property_value: alternative:term "Chromosome 6 open reading frame 5" xsd:string property_value: alternative:term "CIKS" xsd:string property_value: alternative:term "DKFZP586G0522" xsd:string property_value: symbol "TRAF3IP2" xsd:string [Term] id: Orphanet:370396 name: Small cell carcinoma of the ovary is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:213500 ! Rare ovarian cancer property_value: alternative:term "SCCO" xsd:string property_value: alternative:term "Small cell ovarian carcinoma" xsd:string [Term] id: Orphanet:370413 name: eukaryotic translation elongation factor 2 xref: ENSEMBL:ENSG00000167658 xref: GENATLAS:EEF2 xref: HGNC:3214 xref: OMIM:130610 xref: REACTOME:P13639 xref: UNIPROTKB/SWISSPROT:P13639 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:101112 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Spinocerebellar ataxia type 26 property_value: alternative:term "EEF-2" xsd:string property_value: alternative:term "EF2" xsd:string property_value: alternative:term "Polypeptidyl-tRNA translocase" xsd:string property_value: symbol "EEF2" xsd:string [Term] id: Orphanet:370418 name: zinc finger and BTB domain containing 18 xref: ENSEMBL:ENSG00000179456 xref: GENATLAS:ZNF238 xref: HGNC:13030 xref: OMIM:608433 xref: UNIPROTKB/SWISSPROT:Q99592 is_a: Orphanet:C010 ! gene relationship: Orphanet:317349 Orphanet:36367 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Distal monosomy 1q property_value: alternative:term "C2H2-171" xsd:string property_value: alternative:term "RP58" xsd:string property_value: alternative:term "TAZ-1" xsd:string property_value: alternative:term "Zinc finger protein 238" xsd:string property_value: alternative:term "ZNF238" xsd:string property_value: symbol "ZBTB18" xsd:string [Term] id: Orphanet:37042 name: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome xref: ICD10:E31.0 xref: OMIM:304790 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101956 ! Polyendocrinopathy relationship: part_of Orphanet:169355 ! Immunodeficiency syndrome with autoimmunity relationship: part_of Orphanet:183643 ! Genetic polyendocrinopathy relationship: part_of Orphanet:363300 ! Genetic intractable diarrhea of infancy relationship: part_of Orphanet:73014 ! Intractable diarrhea of infancy relationship: part_of Orphanet:94075 ! Severe immune-mediated enteropathy property_value: alternative:term "Autoimmune enteropathy type 1" xsd:string property_value: alternative:term "IPEX" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections." xsd:string [Term] id: Orphanet:370921 name: STT3A-CDG xref: ICD10:E77.8 xref: OMIM:615596 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature [Term] id: Orphanet:370924 name: STT3B-CDG xref: ICD10:E77.8 xref: OMIM:615597 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature [Term] id: Orphanet:370927 name: SSR4-CDG xref: ICD10:E77.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature [Term] id: Orphanet:370930 name: XYLT1-CDG xref: ICD10:E77.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:309450 ! Disorder of O-xylosylglycan synthesis relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371235 ! Congenital disorder of glycosylation with developmental anomaly [Term] id: Orphanet:370933 name: ST3GAL5-CDG xref: ICD10:E77.8 is_a: Orphanet:309515 ! Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation is_a: Orphanet:352306 ! Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement is_a: Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature is_a: Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature is_a: Orphanet:371200 ! Congenital disorder of glycosylation with skin involvement property_value: alternative:term "GM3 synthase deficiency" xsd:string [Term] id: Orphanet:370938 name: Salt-and-pepper syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:370933 ! ST3GAL5-CDG relationship: part_of Orphanet:79374 ! Pigmentation anomaly of the skin [Term] id: Orphanet:370943 name: Autism spectrum disorder-epilepsy-arthrogryposis syndrome xref: OMIM:615553 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:180772 ! Rare disease with autism relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature relationship: part_of Orphanet:371235 ! Congenital disorder of glycosylation with developmental anomaly relationship: part_of Orphanet:97120 ! Distal arthrogryposis property_value: alternative:term "SLC35A3-CDG" xsd:string [Term] id: Orphanet:370953 name: Congenital muscular dystrophy due to dystroglycanopathy xref: ICD10:G71.2 is_a: Orphanet:97242 ! Congenital muscular dystrophy property_value: alternative:term "CMD due to dystroglycanopathy" xsd:string [Term] id: Orphanet:370959 name: Congenital muscular dystrophy with cerebellar involvement xref: ICD10:G71.2 xref: OMIM:606612 xref: OMIM:613151 xref: OMIM:613155 xref: OMIM:613156 xref: OMIM:615351 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:309469 ! Disorder of O-mannosylglycan synthesis relationship: part_of Orphanet:370953 ! Congenital muscular dystrophy due to dystroglycanopathy relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature property_value: alternative:term "CMD with cerebellar involvement" xsd:string property_value: alternative:term "CMD-CRB" xsd:string [Term] id: Orphanet:370968 name: Congenital muscular dystrophy with intellectual disability xref: ICD10:G71.2 xref: OMIM:606612 xref: OMIM:608840 xref: OMIM:613155 xref: OMIM:613156 xref: OMIM:615351 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:309469 ! Disorder of O-mannosylglycan synthesis relationship: part_of Orphanet:370953 ! Congenital muscular dystrophy due to dystroglycanopathy relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature property_value: alternative:term "CMD with intellectual disability" xsd:string property_value: alternative:term "CMD-MR" xsd:string [Term] id: Orphanet:370980 name: Congenital muscular dystrophy without intellectual disability xref: ICD10:G71.2 xref: OMIM:606612 xref: OMIM:613152 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:309469 ! Disorder of O-mannosylglycan synthesis relationship: part_of Orphanet:370953 ! Congenital muscular dystrophy due to dystroglycanopathy relationship: part_of Orphanet:371047 ! Congenital disorder of glycosylation with neurological involvement property_value: alternative:term "CMD without intellectual disability" xsd:string property_value: alternative:term "CMD-no MR" xsd:string [Term] id: Orphanet:370997 name: Muscle-eye-brain disease with bilateral multicystic leucodystrophy xref: ICD10:G71.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:352687 ! Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies relationship: part_of Orphanet:371040 ! Primary qualitative or quantitative defects of alpha-dystroglycan property_value: alternative:term "MEB disease with bilateral multicystic leucodystrophy" xsd:string [Term] id: Orphanet:371 name: Glycogen storage disease due to muscle phosphofructokinase deficiency xref: ICD10:E74.0 xref: OMIM:232800 xref: SNOMED CT:234406005 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206959 ! Muscular glycogenosis relationship: part_of Orphanet:79201 ! Glycogen storage disease relationship: part_of Orphanet:98372 ! Hemolytic anemia due to a disorder of glycolytic enzymes property_value: alternative:term "Glycogen storage disease type 7" xsd:string property_value: alternative:term "Glycogenosis due to muscle phosphofructokinase deficiency" xsd:string property_value: alternative:term "Glycogenosis type 7" xsd:string property_value: alternative:term "GSD due to muscle phosphofructokinase deficiency" xsd:string property_value: alternative:term "GSD type 7" xsd:string property_value: alternative:term "Tarui disease" xsd:string [Term] id: Orphanet:371007 name: Congenital muscular dystrophy with hyperlaxity xref: ICD10:G71.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:97242 ! Congenital muscular dystrophy property_value: alternative:term "CMDH" xsd:string [Term] id: Orphanet:371024 name: Qualitative or quantitative defects of alpha-dystroglycan xref: ICD10:G71.2 is_a: Orphanet:207049 ! Qualitative or quantitative protein defects in neuromuscular diseases property_value: alternative:term "Alpha-dystroglycanopathy" xsd:string property_value: alternative:term "Dystroglycanopathy" xsd:string [Term] id: Orphanet:371040 name: Primary qualitative or quantitative defects of alpha-dystroglycan xref: ICD10:G71.2 is_a: Orphanet:371024 ! Qualitative or quantitative defects of alpha-dystroglycan property_value: alternative:term "Primary alpha-dystroglycanopathy" xsd:string property_value: alternative:term "Primary dystroglycanopathy" xsd:string [Term] id: Orphanet:371047 name: Congenital disorder of glycosylation with neurological involvement xref: ICD10:E77.8 is_a: Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "CDG with neurological involvement" xsd:string [Term] id: Orphanet:371054 name: X-linked congenital disorder of glycosylation with intellectual disability as a major feature xref: ICD10:E77.8 is_a: Orphanet:182076 ! Syndromic neurometabolic disease with X-linked intellectual deficit is_a: Orphanet:371047 ! Congenital disorder of glycosylation with neurological involvement property_value: alternative:term "X-linked CDG with intellectual disability as a major feature" xsd:string [Term] id: Orphanet:371064 name: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature xref: ICD10:E77.8 is_a: Orphanet:182073 ! Syndromic neurometabolic disease with non-X-linked intellectual deficit is_a: Orphanet:371047 ! Congenital disorder of glycosylation with neurological involvement property_value: alternative:term "Non-X-linked CDG with intellectual disability as a major feature" xsd:string [Term] id: Orphanet:371071 name: Congenital disorder of glycosylation with epilepsy as a major feature xref: ICD10:E77.8 is_a: Orphanet:166481 ! Metabolic diseases with epilepsy is_a: Orphanet:371047 ! Congenital disorder of glycosylation with neurological involvement property_value: alternative:term "CDG with epilepsy as a major feature" xsd:string [Term] id: Orphanet:371077 name: phosphatidylinositol binding clathrin assembly protein xref: ENSEMBL:ENSG00000073921 xref: GENATLAS:PICALM xref: HGNC:15514 xref: OMIM:603025 xref: REACTOME:Q13492 xref: UNIPROTKB/SWISSPROT:Q13492 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:99861 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor T-cell acute lymphoblastic leukemia property_value: alternative:term "CALM" xsd:string property_value: alternative:term "CLTH" xsd:string property_value: symbol "PICALM" xsd:string [Term] id: Orphanet:371157 name: Congenital disorder of glycosylation with hepatic involvement xref: ICD10:E77.8 is_a: Orphanet:101940 ! Metabolic liver disease property_value: alternative:term "CDG with hepatic involvement" xsd:string [Term] id: Orphanet:371162 name: solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 xref: ENSEMBL:ENSG00000117620 xref: GENATLAS:SLC35A3 xref: HGNC:11023 xref: OMIM:605632 xref: REACTOME:Q9Y2D2 xref: UNIPROTKB/SWISSPROT:Q9Y2D2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:370943 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autism spectrum disorder-epilepsy-arthrogryposis syndrome property_value: alternative:term "Solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3" xsd:string property_value: symbol "SLC35A3" xsd:string [Term] id: Orphanet:371170 name: nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) xref: ENSEMBL:ENSG00000077150 xref: GENATLAS:NFKB2 xref: HGNC:7795 xref: OMIM:164012 xref: REACTOME:Q00653 xref: UNIPROTKB/SWISSPROT:Q00653 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1572 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Common variable immunodeficiency property_value: alternative:term "LYT-10" xsd:string property_value: alternative:term "NF-kB2" xsd:string property_value: alternative:term "p105" xsd:string property_value: alternative:term "p52" xsd:string property_value: symbol "NFKB2" xsd:string [Term] id: Orphanet:371176 name: Congenital disorder of glycosylation with dilated cardiomyopathy xref: ICD10:E77.8 is_a: Orphanet:217607 ! Familial dilated cardiomyopathy property_value: alternative:term "CDG with dilated cardiomyopathy" xsd:string [Term] id: Orphanet:371183 name: Congenital disorder of glycosylation with cardiac malformation as a major feature xref: ICD10:E77.8 is_a: Orphanet:156532 ! Rare syndrome with cardiac malformations is_a: Orphanet:371235 ! Congenital disorder of glycosylation with developmental anomaly property_value: alternative:term "CDG with cardiac malformation as a major feature" xsd:string [Term] id: Orphanet:371188 name: Congenital disorder of glycosylation with intestinal involvement xref: ICD10:E77.8 is_a: Orphanet:104013 ! Metabolic disease with intestinal involvement property_value: alternative:term "CDG with intestinal involvement" xsd:string [Term] id: Orphanet:371195 name: Congenital disorder of glycosylation-related bone disorder xref: ICD10:E77.8 is_a: Orphanet:364803 ! Rare bone disease related to a common gene or pathway defect is_a: Orphanet:371235 ! Congenital disorder of glycosylation with developmental anomaly property_value: alternative:term "CDG-related bone disorder" xsd:string [Term] id: Orphanet:371200 name: Congenital disorder of glycosylation with skin involvement xref: ICD10:E77.8 is_a: Orphanet:79387 ! Metabolic disease with skin involvement property_value: alternative:term "CDG with skin involvement" xsd:string [Term] id: Orphanet:371207 name: Congenital disorder of glycosylation with nephropathy as a major feature xref: ICD10:E77.8 is_a: Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease property_value: alternative:term "CDG with nephropathy as a major feature" xsd:string [Term] id: Orphanet:371212 name: Congenital disorder of glycosylation with deafness as a major feature xref: ICD10:E77.8 is_a: Orphanet:371235 ! Congenital disorder of glycosylation with developmental anomaly is_a: Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "CDG with deafness as a major feature" xsd:string [Term] id: Orphanet:371219 name: intraflagellar transport 172 homolog (Chlamydomonas) xref: ENSEMBL:ENSG00000138002 xref: GENATLAS:IFT172 xref: HGNC:30391 xref: OMIM:607386 xref: UNIPROTKB/SWISSPROT:Q9UG01 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:140969 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Saldino-Mainzer syndrome relationship: Orphanet:317343 Orphanet:474 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Jeune syndrome property_value: alternative:term "NPHP17" xsd:string property_value: alternative:term "osm-1" xsd:string property_value: alternative:term "SLB" xsd:string property_value: alternative:term "wim" xsd:string property_value: alternative:term "wimple homolog" xsd:string property_value: symbol "IFT172" xsd:string [Term] id: Orphanet:371235 name: Congenital disorder of glycosylation with developmental anomaly xref: ICD10:E77.8 is_a: Orphanet:139009 ! Developmental anomaly of metabolic origin property_value: alternative:term "CDG with developmental anomaly" xsd:string [Term] id: Orphanet:371315 name: cathepsin H xref: ENSEMBL:ENSG00000103811 xref: GENATLAS:CTSH xref: HGNC:2535 xref: IUPHAR:2349 xref: OMIM:116820 xref: REACTOME:P09668 xref: UNIPROTKB/SWISSPROT:P09668 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:2073 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Narcolepsy-cataplexy property_value: alternative:term "ACC-4" xsd:string property_value: alternative:term "ACC-5" xsd:string property_value: alternative:term "CPSB" xsd:string property_value: symbol "CTSH" xsd:string [Term] id: Orphanet:371321 name: purinergic receptor P2Y, G-protein coupled, 11 xref: ENSEMBL:ENSG00000244165 xref: GENATLAS:P2RY11 xref: HGNC:8540 xref: IUPHAR:327 xref: OMIM:602697 xref: REACTOME:Q96G91 xref: UNIPROTKB/SWISSPROT:Q96G91 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:2073 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Narcolepsy-cataplexy property_value: alternative:term "P2Y11" xsd:string property_value: symbol "P2RY11" xsd:string [Term] id: Orphanet:371324 name: zinc finger protein 365 xref: ENSEMBL:ENSG00000138311 xref: GENATLAS:ZNF365 xref: HGNC:18194 xref: OMIM:607818 xref: UNIPROTKB/SWISSPROT:Q70YC4 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:2073 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Narcolepsy-cataplexy property_value: alternative:term "KIAA0844" xsd:string property_value: alternative:term "Talanin" xsd:string property_value: alternative:term "UAN" xsd:string property_value: symbol "ZNF365" xsd:string [Term] id: Orphanet:371333 name: syntaxin 1A (brain) xref: ENSEMBL:ENSG00000106089 xref: GENATLAS:STX1A xref: HGNC:11433 xref: OMIM:186590 xref: REACTOME:Q16623 xref: UNIPROTKB/SWISSPROT:Q16623 is_a: Orphanet:C010 ! gene relationship: Orphanet:317346 Orphanet:586 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cystic fibrosis property_value: alternative:term "HPC-1" xsd:string property_value: alternative:term "p35-1" xsd:string property_value: alternative:term "STX1" xsd:string property_value: symbol "STX1A" xsd:string [Term] id: Orphanet:371358 name: phosphatidylinositol glycan anchor biosynthesis, class T xref: ENSEMBL:ENSG00000124155 xref: GENATLAS:PIGT xref: HGNC:14938 xref: OMIM:610272 xref: REACTOME:Q969N2 xref: UNIPROTKB/SWISSPROT:Q969N2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:369837 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome property_value: alternative:term "GPI transamidase subunit" xsd:string property_value: alternative:term "phosphatidylinositol glycan, class T" xsd:string property_value: symbol "PIGT" xsd:string [Term] id: Orphanet:371364 name: Hypotonia-speech impairment-severe cognitive delay syndrome xref: OMIM:615419 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:371428 name: Multicentric osteolysis-nodulosis-arthropathy spectrum xref: OMIM:259600 xref: OMIM:277950 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:93449 ! Primary osteolysis property_value: alternative:term "MONA spectrum" xsd:string [Term] id: Orphanet:371433 name: Genetic periodic paralysis xref: ICD10:G72.3 is_a: Orphanet:206634 ! Genetic skeletal muscle disease [Term] id: Orphanet:371436 name: Genetic neurovascular malformation is_a: Orphanet:183503 ! Genetic central nervous system and retinal vascular disease is_a: Orphanet:211240 ! Genetic vascular anomaly [Term] id: Orphanet:371439 name: Genetic cerebrovascular dementia is_a: Orphanet:158124 ! Genetic dementia [Term] id: Orphanet:371442 name: Sphingolipidosis with epilepsy is_a: Orphanet:225681 ! Lysosomal disease with epilepsy [Term] id: Orphanet:371445 name: Genetic syndromic esophageal malformation is_a: Orphanet:88993 ! Esophageal malformation [Term] id: Orphanet:371601 name: TBC1 domain family, member 7 xref: ENSEMBL:ENSG00000145979 xref: GENATLAS:TBC1D7 xref: HGNC:21066 xref: OMIM:612655 xref: UNIPROTKB/SWISSPROT:Q9P0N9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:268920 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated megalencephaly property_value: alternative:term "dJ257A7.3" xsd:string property_value: alternative:term "FLJ32666" xsd:string property_value: symbol "TBC1D7" xsd:string [Term] id: Orphanet:371844 name: solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 xref: ENSEMBL:ENSG00000188467 xref: GENATLAS:SLC24A5 xref: HGNC:20611 xref: OMIM:609802 xref: REACTOME:Q71RS6 xref: UNIPROTKB/SWISSPROT:Q71RS6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:370097 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Oculocutaneous albinism type 6 property_value: alternative:term "JSX" xsd:string property_value: alternative:term "OCA6" xsd:string property_value: alternative:term "oculocutaneous albinism 6 (autosomal recessive)" xsd:string property_value: alternative:term "solute carrier family 24, member 5" xsd:string property_value: symbol "SLC24A5" xsd:string [Term] id: Orphanet:371861 name: Genetic hyperaldosteronism is_a: Orphanet:183637 ! Rare genetic adrenal disease [Term] id: Orphanet:371931 name: WD repeat domain 34 xref: ENSEMBL:ENSG00000119333 xref: GENATLAS:WDR34 xref: HGNC:28296 xref: OMIM:613363 xref: UNIPROTKB/SWISSPROT:Q96EX3 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:474 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Jeune syndrome relationship: Orphanet:317343 Orphanet:93271 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Short rib-polydactyly syndrome, Verma-Naumoff type property_value: alternative:term "bA216B9.3" xsd:string property_value: alternative:term "DIC5" xsd:string property_value: alternative:term "FAP133" xsd:string property_value: alternative:term "MGC20486" xsd:string property_value: symbol "WDR34" xsd:string [Term] id: Orphanet:371936 name: serpin peptidase inhibitor, clade B (ovalbumin), member 7 xref: ENSEMBL:ENSG00000166396 xref: GENATLAS:SERPINB7 xref: HGNC:13902 xref: OMIM:603357 xref: UNIPROTKB/SWISSPROT:O75635 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:140966 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Palmoplantar keratoderma, Nagashima type property_value: alternative:term "MEGSIN" xsd:string property_value: alternative:term "serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7" xsd:string property_value: symbol "SERPINB7" xsd:string [Term] id: Orphanet:371941 name: dachsous cadherin-related 1 xref: ENSEMBL:ENSG00000166341 xref: GENATLAS:DCHS1 xref: HGNC:13681 xref: OMIM:603057 xref: UNIPROTKB/SWISSPROT:Q96JQ0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314679 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cerebro-facio-articular syndrome property_value: alternative:term "cadherin-related family member 6" xsd:string property_value: alternative:term "CDH25" xsd:string property_value: alternative:term "CDHR6" xsd:string property_value: alternative:term "dachsous 1 (Drosophila)" xsd:string property_value: alternative:term "FIB1" xsd:string property_value: alternative:term "FLJ11790" xsd:string property_value: alternative:term "KIAA1773" xsd:string property_value: alternative:term "PCDH16" xsd:string property_value: alternative:term "protocadherin 16" xsd:string property_value: symbol "DCHS1" xsd:string [Term] id: Orphanet:371950 name: FAT atypical cadherin 4 xref: ENSEMBL:ENSG00000196159 xref: GENATLAS:FAT4 xref: HGNC:23109 xref: OMIM:612411 xref: UNIPROTKB/SWISSPROT:Q6V0I7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:314679 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Cerebro-facio-articular syndrome property_value: alternative:term "cadherin-related family member 11" xsd:string property_value: alternative:term "CDHF14" xsd:string property_value: alternative:term "CDHR11" xsd:string property_value: alternative:term "FAT tumor suppressor homolog 4 (Drosophila)" xsd:string property_value: alternative:term "FAT-J" xsd:string property_value: symbol "FAT4" xsd:string [Term] id: Orphanet:37202 name: Interstitial cystitis xref: ICD10:N30.1 xref: MEDDRA:10011796 xref: MESH:D018856 xref: UMLS:C0282488 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:101433 ! Rare urogenital disease property_value: alternative:term "Bladder pain syndrome" xsd:string property_value: alternative:term "Painful bladder syndrome" xsd:string [Term] id: Orphanet:373 name: Simpson-Golabi-Behmel syndrome xref: ICD10:Q87.3 xref: MESH:C537340 xref: OMIM:312870 xref: SNOMED CT:439143004 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:108979 ! Syndromic diaphragmatic or abdominal wall malformation relationship: part_of Orphanet:156207 ! Macroglossia relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations relationship: part_of Orphanet:180779 ! Syndromic diaphragmatic or thoracic malformation relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:93460 ! Overgrowth syndrome relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "DGSX" xsd:string property_value: alternative:term "Golabi-Rosen syndrome" xsd:string property_value: alternative:term "SDYS" xsd:string property_value: alternative:term "SGBS" xsd:string property_value: alternative:term "SGBS1" xsd:string property_value: alternative:term "Simpson dysmorphia syndrome" xsd:string property_value: alternative:term "Simpson-Golabi-Behmel syndrome type 1" xsd:string property_value: alternative:term "X-linked dysplasia gigantism syndrome" xsd:string [Term] id: Orphanet:374 name: Goldenhar syndrome xref: ICD10:Q87.0 xref: MESH:D006053 xref: OMIM:164210 xref: SNOMED CT:15557005 xref: SNOMED CT:205418005 xref: SNOMED CT:254026007 xref: SNOMED CT:367462009 xref: UMLS:C0265240 xref: UMLS:C0432130 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:138050 ! Pierre Robin syndrome associated with branchial archs anomalies relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:141132 ! Oculo-auriculo-vertebral spectrum relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:93453 ! Dysostosis with predominant craniofacial involvement relationship: part_of Orphanet:98566 ! Syndromic palpebral coloboma relationship: part_of Orphanet:98617 ! Bulbar conjunctival dermoid or conjunctival dermolipoma relationship: part_of Orphanet:98628 ! Syndromic corneal dystrophy relationship: part_of Orphanet:98655 ! Lens shape anomaly property_value: alternative:term "Craniofacial microsomia" xsd:string property_value: alternative:term "Facioauriculovertebral dysplasia" xsd:string property_value: alternative:term "OAV dysplasia" xsd:string property_value: alternative:term "OAVS" xsd:string property_value: alternative:term "Oculoauriculovertebral dysplasia" xsd:string property_value: alternative:term "Oculoauriculovertebral spectrum" xsd:string property_value: alternative:term "Oculoauriculovertebral syndrome" xsd:string [Term] id: Orphanet:375 name: Anti-glomerular basement membrane disease xref: ICD10:M31.0 xref: MEDDRA:10018620 xref: OMIM:233450 xref: SNOMED CT:50581000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:264949 ! Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "Anti-GBM syndrome" xsd:string property_value: alternative:term "Goodpasture syndrome" xsd:string [Term] id: Orphanet:37553 name: Cardiodysrhythmic potassium-sensitive periodic paralysis xref: ICD10:G72.3 xref: OMIM:170390 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease relationship: part_of Orphanet:206976 ! Periodic paralysis relationship: part_of Orphanet:352298 ! Genetic muscular channelopathy relationship: part_of Orphanet:371433 ! Genetic periodic paralysis relationship: part_of Orphanet:71864 ! Muscular channelopathy property_value: alternative:term "Andersen cardiodysrhythmic periodic paralysis" xsd:string property_value: alternative:term "Andersen syndrome" xsd:string property_value: alternative:term "Andersen-Tawil syndrome" xsd:string property_value: alternative:term "LQT7" xsd:string property_value: alternative:term "QT long syndrome type 7" xsd:string [Term] id: Orphanet:37559 name: Acquired kinky hair syndrome xref: ICD10:L67.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:90077 ! Other acquired skin disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected." xsd:string [Term] id: Orphanet:375701 name: transforming growth factor, beta receptor III xref: ENSEMBL:ENSG00000069702 xref: GENATLAS:TGFBR3 xref: HGNC:11774 xref: IUPHAR:1796 xref: OMIM:600742 xref: UNIPROTKB/SWISSPROT:Q03167 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:231160 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Familial cerebral saccular aneurysm property_value: alternative:term "betaglycan" xsd:string property_value: alternative:term "betaglycan proteoglycan" xsd:string property_value: alternative:term "BGCAN" xsd:string property_value: alternative:term "transforming growth factor, beta receptor III (betaglycan, 300kDa)" xsd:string property_value: symbol "TGFBR3" xsd:string [Term] id: Orphanet:376 name: Gordon syndrome xref: ICD10:Q87.8 xref: MESH:C537288 xref: OMIM:114300 xref: SNOMED CT:237850008 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:97120 ! Distal arthrogryposis property_value: alternative:term "Camptodactyly - cleft palate- clubfoot" xsd:string property_value: alternative:term "Distal arthrogryposis type 3" xsd:string property_value: alternative:term "Distal arthrogryposis type IIA" xsd:string [Term] id: Orphanet:37612 name: Episodic ataxia type 1 xref: ICD10:G11.8 xref: OMIM:160120 xref: SNOMED CT:421182009 xref: UMLS:C1719788 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:211062 ! Hereditary episodic ataxia property_value: alternative:term "Episodic ataxia with myokymia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia." xsd:string [Term] id: Orphanet:37629 name: Neonatal neutropenia is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_42738 with label: Severe congenital neutropenia" xsd:string [Term] id: Orphanet:376401 name: trafficking protein particle complex 11 xref: ENSEMBL:ENSG00000168538 xref: GENATLAS:TRAPPC11 xref: HGNC:25751 xref: OMIM:614138 xref: UNIPROTKB/SWISSPROT:Q7Z392 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:369840 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive limb-girdle muscular dystrophy type 2S relationship: Orphanet:317343 Orphanet:369847 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intellectual disability-hyperkinetic movement-truncal ataxia syndrome property_value: alternative:term "C4orf41" xsd:string property_value: alternative:term "chromosome 4 open reading frame 41" xsd:string property_value: alternative:term "FLJ12716" xsd:string property_value: alternative:term "foie gras homolog (zebrafish)" xsd:string property_value: alternative:term "foigr" xsd:string property_value: alternative:term "gry" xsd:string property_value: alternative:term "gryzun homolog (Drosophila)" xsd:string property_value: symbol "TRAPPC11" xsd:string [Term] id: Orphanet:376411 name: vacuolar protein sorting 45 homolog (S. cerevisiae) xref: ENSEMBL:ENSG00000136631 xref: GENATLAS:VPS45 xref: HGNC:14579 xref: OMIM:610035 xref: REACTOME:Q9NRW7 xref: UNIPROTKB/SWISSPROT:Q9NRW7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:369852 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Recurrent infections-myelofibrosis-nephromegaly syndrome property_value: alternative:term "h-vps45" xsd:string property_value: alternative:term "H1" xsd:string property_value: alternative:term "vacuolar protein sorting 45A (yeast homolog)" xsd:string property_value: alternative:term "vacuolar protein sorting 45A (yeast)" xsd:string property_value: alternative:term "VPS45A" xsd:string property_value: alternative:term "VPS45B" xsd:string property_value: symbol "VPS45" xsd:string [Term] id: Orphanet:376495 name: seizure threshold 2 homolog (mouse) xref: ENSEMBL:ENSG00000198198 xref: GENATLAS:SZT2 xref: HGNC:29040 xref: OMIM:615463 xref: UNIPROTKB/SWISSPROT:Q5T011 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:369894 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Early infantile epileptic encephalopathy without suppression burst property_value: alternative:term "C1orf84" xsd:string property_value: alternative:term "chromosome 1 open reading frame 84" xsd:string property_value: alternative:term "FLJ10387" xsd:string property_value: alternative:term "FLJ34502" xsd:string property_value: alternative:term "KIAA0467" xsd:string property_value: alternative:term "RP11-506B15.1" xsd:string property_value: alternative:term "seizure threshold 2 homolog A (mouse)" xsd:string property_value: alternative:term "seizure threshold 2 homolog B (mouse)" xsd:string property_value: alternative:term "SZT2A" xsd:string property_value: alternative:term "SZT2B" xsd:string property_value: symbol "SZT2" xsd:string [Term] id: Orphanet:376502 name: F-box and leucine-rich repeat protein 4 xref: ENSEMBL:ENSG00000112234 xref: GENATLAS:FBXL4 xref: HGNC:13601 xref: OMIM:605654 xref: UNIPROTKB/SWISSPROT:Q9UKA2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:369897 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies property_value: alternative:term "FBL4" xsd:string property_value: alternative:term "FBL5" xsd:string property_value: symbol "FBXL4" xsd:string [Term] id: Orphanet:376535 name: DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 xref: ENSEMBL:ENSG00000118197 xref: GENATLAS:DDX59 xref: HGNC:25360 xref: OMIM:615464 xref: UNIPROTKB/SWISSPROT:Q5T1V6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:369902 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Orofaciodigital syndrome type 14 property_value: alternative:term "DKFZP564B1023" xsd:string property_value: alternative:term "ZNHIT5" xsd:string property_value: symbol "DDX59" xsd:string [Term] id: Orphanet:376545 name: interphotoreceptor matrix proteoglycan 1 xref: ENSEMBL:ENSG00000112706 xref: GENATLAS:IMPG1 xref: HGNC:6055 xref: OMIM:602870 xref: UNIPROTKB/SWISSPROT:Q17R60 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:99000 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Adult-onset foveomacular vitelliform dystrophy property_value: alternative:term "GP147" xsd:string property_value: alternative:term "IPM150" xsd:string property_value: alternative:term "sialoprotein associated with cones and rods" xsd:string property_value: alternative:term "SPACR" xsd:string property_value: symbol "IMPG1" xsd:string [Term] id: Orphanet:376557 name: adenosine monophosphate deaminase 2 xref: ENSEMBL:ENSG00000116337 xref: GENATLAS:AMPD2 xref: HGNC:469 xref: OMIM:102771 xref: REACTOME:Q01433 xref: UNIPROTKB/SWISSPROT:Q01433 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:369920 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Pontocerebellar hypoplasia type 9 property_value: alternative:term "adenosine monophosphate deaminase 2 (isoform L)" xsd:string property_value: alternative:term "AMPD isoform L" xsd:string property_value: symbol "AMPD2" xsd:string [Term] id: Orphanet:376561 name: B-cell receptor-associated protein 31 xref: ENSEMBL:ENSG00000185825 xref: GENATLAS:BCAP31 xref: HGNC:16695 xref: OMIM:300398 xref: REACTOME:P51572 xref: UNIPROTKB/SWISSPROT:P51572 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:369939 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome relationship: Orphanet:317349 Orphanet:369942 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! CADDS property_value: alternative:term "6C6-Ag" xsd:string property_value: alternative:term "BAP31" xsd:string property_value: alternative:term "CDM" xsd:string property_value: alternative:term "DXS1357E" xsd:string property_value: symbol "BCAP31" xsd:string [Term] id: Orphanet:376567 name: ADAM metallopeptidase with thrombospondin type 1 motif, 18 xref: ENSEMBL:ENSG00000140873 xref: GENATLAS:ADAMTS18 xref: HGNC:17110 xref: OMIM:607512 xref: REACTOME:Q8TE60 xref: UNIPROTKB/SWISSPROT:Q8TE60 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:369970 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Microcornea-myopic chorioretinal atrophy-telecanthus syndrome property_value: alternative:term "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18" xsd:string property_value: alternative:term "ADAMTS21" xsd:string property_value: symbol "ADAMTS18" xsd:string [Term] id: Orphanet:376571 name: aryl-hydrocarbon receptor nuclear translocator 2 xref: ENSEMBL:ENSG00000172379 xref: GENATLAS:ARNT2 xref: HGNC:16876 xref: OMIM:606036 xref: UNIPROTKB/SWISSPROT:Q9HBZ2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:370006 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies property_value: alternative:term "bHLHe1" xsd:string property_value: alternative:term "KIAA0307" xsd:string property_value: symbol "ARNT2" xsd:string [Term] id: Orphanet:376575 name: K(lysine) acetyltransferase 6A xref: ENSEMBL:ENSG00000083168 xref: GENATLAS:KAT6A xref: HGNC:13013 xref: OMIM:601408 xref: REACTOME:Q92794 xref: UNIPROTKB/SWISSPROT:Q92794 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:370026 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute myeloid leukemia with t(8;16)(p11;p13) translocation property_value: alternative:term "Monocytic leukemia zinc finger protein" xsd:string property_value: alternative:term "MOZ" xsd:string property_value: alternative:term "MYST histone acetyltransferase (monocytic leukemia) 3" xsd:string property_value: alternative:term "MYST3" xsd:string property_value: alternative:term "runt-related transcription factor binding protein 2" xsd:string property_value: alternative:term "RUNXBP2" xsd:string property_value: alternative:term "ZC2HC6A" xsd:string property_value: alternative:term "ZNF220" xsd:string property_value: symbol "KAT6A" xsd:string [Term] id: Orphanet:376593 name: paired box 1 xref: ENSEMBL:ENSG00000125813 xref: GENATLAS:PAX1 xref: HGNC:8615 xref: OMIM:167411 xref: UNIPROTKB/SWISSPROT:P15863 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2792 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Otofaciocervical syndrome property_value: alternative:term "paired box gene 1" xsd:string property_value: symbol "PAX1" xsd:string [Term] id: Orphanet:376599 name: aarF domain containing kinase 4 xref: ENSEMBL:ENSG00000123815 xref: GENATLAS:ADCK4 xref: HGNC:19041 xref: IUPHAR:1928 xref: OMIM:615567 xref: UNIPROTKB/SWISSPROT:Q96D53 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:93213 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis property_value: alternative:term "COQ8" xsd:string property_value: alternative:term "FLJ12229" xsd:string property_value: symbol "ADCK4" xsd:string [Term] id: Orphanet:376603 name: ribosomal protein L15 xref: ENSEMBL:ENSG00000174748 xref: GENATLAS:RPL15 xref: HGNC:10306 xref: OMIM:604174 xref: REACTOME:P61313 xref: UNIPROTKB/SWISSPROT:P61313 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:124 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Blackfan-Diamond anemia property_value: alternative:term "EC45" xsd:string property_value: alternative:term "L15" xsd:string property_value: alternative:term "RPL10" xsd:string property_value: alternative:term "RPLY10" xsd:string property_value: alternative:term "RPYL10" xsd:string property_value: symbol "RPL15" xsd:string [Term] id: Orphanet:376724 name: Generalized isolated dystonia is_a: Orphanet:156159 ! Isolated dystonia [Term] id: Orphanet:376877 name: sodium leak channel, non-selective xref: ENSEMBL:ENSG00000102452 xref: GENATLAS:NALCN xref: HGNC:19082 xref: OMIM:611549 xref: REACTOME:Q8IZF0 xref: UNIPROTKB/SWISSPROT:Q8IZF0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:371364 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hypotonia-speech impairment-severe cognitive delay syndrome property_value: alternative:term "bA430M15.1" xsd:string property_value: alternative:term "CanIon" xsd:string property_value: alternative:term "VGCNL1" xsd:string property_value: alternative:term "voltage gated channel like 1" xsd:string property_value: symbol "NALCN" xsd:string [Term] id: Orphanet:376888 name: leucyl-tRNA synthetase xref: ENSEMBL:ENSG00000133706 xref: GENATLAS:LARS xref: HGNC:6512 xref: OMIM:151350 xref: REACTOME:Q9P2J5 xref: UNIPROTKB/SWISSPROT:Q9P2J5 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:370088 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute infantile liver failure-multisystemic involvement syndrome property_value: alternative:term "FLJ10595" xsd:string property_value: alternative:term "FLJ21788" xsd:string property_value: alternative:term "HSPC192" xsd:string property_value: alternative:term "LARS1" xsd:string property_value: alternative:term "leucine tRNA ligase 1, cytoplasmic" xsd:string property_value: alternative:term "LEUS" xsd:string property_value: alternative:term "RNTLS" xsd:string property_value: symbol "LARS" xsd:string [Term] id: Orphanet:376898 name: methionyl-tRNA synthetase xref: ENSEMBL:ENSG00000166986 xref: GENATLAS:MARS xref: HGNC:6898 xref: OMIM:156560 xref: REACTOME:P56192 xref: UNIPROTKB/SWISSPROT:P56192 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:370088 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Acute infantile liver failure-multisystemic involvement syndrome property_value: alternative:term "methionine tRNA ligase 1, cytoplasmic" xsd:string property_value: alternative:term "MetRS" xsd:string property_value: symbol "MARS" xsd:string [Term] id: Orphanet:376910 name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 xref: ENSEMBL:ENSG00000153147 xref: GENATLAS:SMARCA5 xref: HGNC:11101 xref: OMIM:603375 xref: REACTOME:O60264 xref: UNIPROTKB/SWISSPROT:O60264 is_a: Orphanet:C010 ! gene relationship: Orphanet:317348 Orphanet:370334 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Extraskeletal Ewing sarcoma property_value: alternative:term "hISWI" xsd:string property_value: alternative:term "hSNF2H" xsd:string property_value: alternative:term "ISWI" xsd:string property_value: symbol "SMARCA5" xsd:string [Term] id: Orphanet:376917 name: vascular endothelial growth factor C xref: ENSEMBL:ENSG00000150630 xref: GENATLAS:VEGFC xref: HGNC:12682 xref: OMIM:601528 xref: REACTOME:P49767 xref: UNIPROTKB/SWISSPROT:P49767 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:79452 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Milroy disease property_value: alternative:term "vascular endothelial growth factor-related protein" xsd:string property_value: alternative:term "VRP" xsd:string property_value: symbol "VEGFC" xsd:string [Term] id: Orphanet:376942 name: xylosyltransferase I xref: ENSEMBL:ENSG00000103489 xref: GENATLAS:XYLT1 xref: HGNC:15516 xref: OMIM:608124 xref: UNIPROTKB/SWISSPROT:Q86Y38 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:370930 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! XYLT1-CDG property_value: alternative:term "protein xylosyltransferase 1" xsd:string property_value: alternative:term "PXYLT1" xsd:string property_value: alternative:term "XT-I" xsd:string property_value: symbol "XYLT1" xsd:string [Term] id: Orphanet:376959 name: TBC1 domain family, member 20 xref: ENSEMBL:ENSG00000125875 xref: GENATLAS:TBC1D20 xref: HGNC:16133 xref: OMIM:611663 xref: UNIPROTKB/SWISSPROT:Q96BZ9 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2510 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Micro syndrome property_value: alternative:term "C20orf140" xsd:string property_value: alternative:term "chromosome 20 open reading frame 140" xsd:string property_value: alternative:term "dJ852M4.2" xsd:string property_value: symbol "TBC1D20" xsd:string [Term] id: Orphanet:376965 name: family with sequence similarity 111, member B xref: ENSEMBL:ENSG00000189057 xref: GENATLAS:FAM111B xref: HGNC:24200 xref: OMIM:615584 xref: UNIPROTKB/SWISSPROT:Q6SJ93 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:221043 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Hereditary sclerosing poikiloderma with tendon and pulmonary involvement property_value: alternative:term "CANP" xsd:string property_value: symbol "FAM111B" xsd:string [Term] id: Orphanet:376969 name: endothelin 1 xref: ENSEMBL:ENSG00000078401 xref: GENATLAS:EDN1 xref: HGNC:3176 xref: OMIM:131240 xref: REACTOME:P05305 xref: UNIPROTKB/SWISSPROT:P05305 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:137888 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Auriculocondylar syndrome property_value: alternative:term "ET1" xsd:string property_value: symbol "EDN1" xsd:string [Term] id: Orphanet:376977 name: kelch-like family member 41 xref: ENSEMBL:ENSG00000239474 xref: GENATLAS:KLHL41 xref: HGNC:16905 xref: OMIM:607701 xref: UNIPROTKB/SWISSPROT:O60662 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:171430 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Severe congenital nemaline myopathy relationship: Orphanet:317343 Orphanet:171433 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Intermediate nemaline myopathy relationship: Orphanet:317343 Orphanet:171436 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Typical nemaline myopathy relationship: Orphanet:317343 Orphanet:171439 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Childhood-onset nemaline myopathy property_value: alternative:term "KBTBD10" xsd:string property_value: alternative:term "kelch repeat and BTB (POZ) domain containing 10" xsd:string property_value: alternative:term "kelch-like 41 (Drosophila)" xsd:string property_value: alternative:term "Krp1" xsd:string property_value: alternative:term "sarcomeric muscle protein" xsd:string property_value: alternative:term "SARCOSIN" xsd:string property_value: symbol "KLHL41" xsd:string [Term] id: Orphanet:377 name: Gorlin syndrome xref: ICD10:Q87.8 xref: OMIM:109400 xref: SNOMED CT:69408002 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:252190 ! Inherited nervous system cancer-predisposing syndrome relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis relationship: part_of Orphanet:98584 ! Malignant tumor of palpebral epidermis property_value: alternative:term "Basal cell nevus syndrome" xsd:string property_value: alternative:term "NBCCS" xsd:string property_value: alternative:term "Nevoid basal cell carcinoma syndrome" xsd:string [Term] id: Orphanet:377025 name: cyclin-dependent kinase 6 xref: ENSEMBL:ENSG00000105810 xref: GENATLAS:CDK6 xref: HGNC:1777 xref: IUPHAR:1978 xref: OMIM:603368 xref: REACTOME:Q00534 xref: UNIPROTKB/SWISSPROT:Q00534 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2512 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal recessive primary microcephaly property_value: alternative:term "PLSTIRE" xsd:string property_value: symbol "CDK6" xsd:string [Term] id: Orphanet:377040 name: protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A xref: ENSEMBL:ENSG00000165996 xref: GENATLAS:PTPLA xref: HGNC:9639 xref: OMIM:610467 xref: UNIPROTKB/SWISSPROT:B0YJ81 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:2020 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Congenital fiber-type disproportion myopathy property_value: alternative:term "CAP" xsd:string property_value: alternative:term "cementum attachment protein" xsd:string property_value: alternative:term "HACD1" xsd:string property_value: alternative:term "protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a" xsd:string property_value: symbol "PTPLA" xsd:string [Term] id: Orphanet:377052 name: signal sequence receptor, delta xref: ENSEMBL:ENSG00000180879 xref: GENATLAS:SSR4 xref: HGNC:11326 xref: OMIM:300090 xref: REACTOME:P51571 xref: UNIPROTKB/SWISSPROT:P51571 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:370927 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! SSR4-CDG property_value: alternative:term "translocon-associated protein delta" xsd:string property_value: alternative:term "TRAPD" xsd:string property_value: symbol "SSR4" xsd:string [Term] id: Orphanet:377069 name: plexin D1 xref: ENSEMBL:ENSG00000004399 xref: GENATLAS:PLXND1 xref: HGNC:9107 xref: OMIM:604282 xref: REACTOME:Q9Y4D7 xref: UNIPROTKB/SWISSPROT:Q9Y4D7 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:3384 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Truncus arteriosus property_value: alternative:term "KIAA0620" xsd:string property_value: symbol "PLXND1" xsd:string [Term] id: Orphanet:37748 name: Schnitzler syndrome xref: ICD10:L50.8 xref: MEDDRA:10062908 xref: MESH:D019873 xref: SNOMED CT:402415001 xref: UMLS:C0524988 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102237 ! Unexplained periodic fever syndrome relationship: part_of Orphanet:182231 ! Rare rheumatologic disease relationship: part_of Orphanet:79384 ! Rare urticaria property_value: alternative:term "Chronic urticaria with gammapathy" xsd:string property_value: alternative:term "Chronic urticaria with macroglobulinemia" xsd:string [Term] id: Orphanet:377496 name: LYR motif containing 7 xref: ENSEMBL:ENSG00000186687 xref: HGNC:28072 xref: UNIPROTKB/SWISSPROT:Q5U5X0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:1460 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Isolated CoQ-cytochrome C reductase deficiency property_value: alternative:term "C5orf31" xsd:string property_value: alternative:term "chromosome 5 open reading frame 31" xsd:string property_value: alternative:term "FLJ20796" xsd:string property_value: alternative:term "Lyrm7 homolog (mouse)" xsd:string property_value: alternative:term "MZM1L" xsd:string property_value: symbol "LYRM7" xsd:string [Term] id: Orphanet:377530 name: formin 2 xref: ENSEMBL:ENSG00000155816 xref: GENATLAS:FMN2 xref: HGNC:14074 xref: OMIM:606373 xref: UNIPROTKB/SWISSPROT:Q9NZ56 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:178469 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Autosomal dominant nonsyndromic intellectual deficit property_value: symbol "FMN2" xsd:string [Term] id: Orphanet:377556 name: phosphatidylinositol-5-phosphate 4-kinase, type II, alpha xref: ENSEMBL:ENSG00000150867 xref: GENATLAS:PIP4K2A xref: HGNC:8997 xref: OMIM:603140 xref: REACTOME:P48426 xref: UNIPROTKB/SWISSPROT:P48426 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:99860 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Precursor B-cell acute lymphoblastic leukemia property_value: alternative:term "phosphatidylinositol-4-phosphate 5-kinase, type II, alpha" xsd:string property_value: alternative:term "PIP5K2A" xsd:string property_value: alternative:term "PIP5KIIA" xsd:string property_value: alternative:term "PIP5KIIalpha" xsd:string property_value: symbol "PIP4K2A" xsd:string [Term] id: Orphanet:377602 name: chemokine (C-C motif) receptor 6 xref: GENATLAS:CCR6 xref: HGNC:1607 xref: IUPHAR:601835 xref: UNIPROTKB/SWISSPROT:P51684 is_a: Orphanet:C010 ! gene relationship: Orphanet:317345 Orphanet:220393 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Diffuse cutaneous systemic sclerosis relationship: Orphanet:317345 Orphanet:220402 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Limited cutaneous systemic sclerosis property_value: alternative:term "BN-1" xsd:string property_value: alternative:term "CD196" xsd:string property_value: alternative:term "CKR-L3" xsd:string property_value: alternative:term "CMKBR6" xsd:string property_value: alternative:term "DCR2" xsd:string property_value: alternative:term "DRY-6" xsd:string property_value: alternative:term "GPR-CY4" xsd:string property_value: alternative:term "GPR29" xsd:string property_value: alternative:term "STRL22" xsd:string property_value: symbol "CCR6" xsd:string [Term] id: Orphanet:377662 name: STT3A, subunit of the oligosaccharyltransferase complex (catalytic) xref: GENATLAS:STT3A xref: HGNC:6172 xref: OMIM:601134 xref: UNIPROTKB/SWISSPROT:P46977 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:370921 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! STT3A-CDG property_value: alternative:term "dolichyl-diphosphooligosaccharide protein glycotransferase" xsd:string property_value: alternative:term "integral membrane protein 1" xsd:string property_value: alternative:term "ITM1" xsd:string property_value: alternative:term "MGC9042" xsd:string property_value: alternative:term "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)" xsd:string property_value: alternative:term "STT3-A" xsd:string property_value: alternative:term "STT3A, cataylic subunit of the oligosaccharyltransferase complex" xsd:string property_value: alternative:term "TMC" xsd:string property_value: symbol "STT3A" xsd:string [Term] id: Orphanet:377672 name: STT3B, subunit of the oligosaccharyltransferase complex (catalytic) xref: GENATLAS:STT3B xref: HGNC:30611 xref: OMIM:608605 xref: UNIPROTKB/SWISSPROT:Q8TCJ2 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:370924 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! STT3B-CDG property_value: alternative:term "dolichyl-diphosphooligosaccharide protein glycotransferase" xsd:string property_value: alternative:term "FLJ90106" xsd:string property_value: alternative:term "SIMP" xsd:string property_value: alternative:term "source of immunodominant MHC associated peptides" xsd:string property_value: alternative:term "STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)" xsd:string property_value: alternative:term "STT3-B" xsd:string property_value: symbol "STT3B" xsd:string [Term] id: Orphanet:377682 name: GDP-mannose pyrophosphorylase A xref: GENATLAS:GMPPA xref: HGNC:22923 xref: OMIM:615495 xref: UNIPROTKB/SWISSPROT:Q96IJ6 is_a: Orphanet:C010 ! gene relationship: Orphanet:317343 Orphanet:869 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Triple A syndrome property_value: symbol "GMPPA" xsd:string [Term] id: Orphanet:377705 name: integrin, alpha 9 xref: GENATLAS:ITGA9 xref: HGNC:6145 xref: OMIM:603963 xref: UNIPROTKB/SWISSPROT:Q13797 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:371007 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Congenital muscular dystrophy with hyperlaxity property_value: alternative:term "ALPHA-RLC" xsd:string property_value: alternative:term "integrin, alpha 4-like" xsd:string property_value: alternative:term "ITGA4L" xsd:string property_value: alternative:term "RLC" xsd:string property_value: symbol "ITGA9" xsd:string [Term] id: Orphanet:377743 name: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 xref: GENATLAS:NDUFA13 xref: HGNC:17194 xref: OMIM:609435 xref: UNIPROTKB/SWISSPROT:Q9P0J0 is_a: Orphanet:C010 ! gene relationship: Orphanet:317344 Orphanet:146 {http://purl.obolibrary.org/obo/ECO_0000205="Curated"} ! Papillary or follicular thyroid carcinoma property_value: alternative:term "B16.6" xsd:string property_value: alternative:term "CDA016" xsd:string property_value: alternative:term "CGI-39" xsd:string property_value: alternative:term "complex I B16.6 subunit" xsd:string property_value: alternative:term "GRIM-19" xsd:string property_value: alternative:term "GRIM19" xsd:string property_value: symbol "NDUFA13" xsd:string [Term] id: Orphanet:377752 name: ATP synthase mitochondrial F1 complex assembly factor 1 xref: GENATLAS:ATPAF1 xref: HGNC:18803 xref: OMIM:608917 xref: UNIPROTKB/SWISSPROT:Q5TC12 is_a: Orphanet:C010 ! gene relationship: Orphanet:327767 Orphanet:254913 {http://purl.obolibrary.org/obo/ECO_0000205="Not curated"} ! Isolated ATP synthase deficiency property_value: alternative:term "ATP11" xsd:string property_value: alternative:term "Atp11p" xsd:string property_value: alternative:term "FLJ22351" xsd:string property_value: symbol "ATPAF1" xsd:string [Term] id: Orphanet:377788 name: disease is_a: Orphanet:C001 ! phenome property_value: http://www.ebi.ac.uk/efo/definition "An alteration of health status resulting from a physiopathological mechanism, and having a homogeneous clinical presentation and evolution and homogeneous therapeutic possibilities. Excludes developmental anomalies" xsd:string [Term] id: Orphanet:377789 name: malformation syndrome is_a: Orphanet:C001 ! phenome property_value: http://www.ebi.ac.uk/efo/definition "A set of morphological anomalies resulting from a developmental anomaly involving more than one morphogenetic field, regardless of the cause. Includes sequences and associations" xsd:string [Term] id: Orphanet:377790 name: biological anamoly is_a: Orphanet:C001 ! phenome property_value: http://www.ebi.ac.uk/efo/definition "An alteration of the normal values of biological entities. Example: hypertransferrinemia" xsd:string [Term] id: Orphanet:377791 name: morphological anamoly is_a: Orphanet:C001 ! phenome property_value: http://www.ebi.ac.uk/efo/definition "A set of anomalies resulting from a developmental anomaly involving only one morphogenetic field. Includes isolated anomalies and anatomical variants" xsd:string [Term] id: Orphanet:377792 name: clinical syndrome is_a: Orphanet:C001 ! phenome property_value: http://www.ebi.ac.uk/efo/definition "A set of manifestations resulting from the alteration of a physiological state and that can be present in several diseases. Examples: nephrotic syndrome, hepatic failure" xsd:string [Term] id: Orphanet:377793 name: particular clinical situation in a disease or syndrome is_a: Orphanet:C001 ! phenome property_value: http://www.ebi.ac.uk/efo/definition "A set of manifestations presenting as a subset of a disease under particular circumstances" xsd:string [Term] id: Orphanet:377794 name: group of phenome is_a: Orphanet:C001 ! phenome property_value: http://www.ebi.ac.uk/efo/definition "A collection of different types of phenomes, sharing a given characteristic and therefore being classified together" xsd:string [Term] id: Orphanet:377795 name: etiological subtype is_a: Orphanet:C001 ! phenome property_value: http://www.ebi.ac.uk/efo/definition "A subset of a disorder defined by its causes, and clinically indistinguishable from other etiological subtypes" xsd:string [Term] id: Orphanet:377796 name: clinical subtype is_a: Orphanet:C001 ! phenome property_value: http://www.ebi.ac.uk/efo/definition "A subset of a disorder defined by a distinct clinical presentation" xsd:string [Term] id: Orphanet:377797 name: histopathological subtype is_a: Orphanet:C001 ! phenome property_value: http://www.ebi.ac.uk/efo/definition "A subset of a disorder defined on the basis of its histological aspect" xsd:string [Term] id: Orphanet:379 name: Chronic granulomatous disease xref: ICD10:D71 xref: MEDDRA:10008906 xref: MESH:D006105 xref: OMIM:233670 xref: OMIM:233690 xref: OMIM:233700 xref: OMIM:233710 xref: OMIM:306400 xref: OMIM:613960 xref: SNOMED CT:191352003 xref: SNOMED CT:387759001 xref: UMLS:C0018203 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:183494 ! Genetic immune deficiency with skin involvement relationship: part_of Orphanet:183681 ! Functional neutrophil defect relationship: part_of Orphanet:264714 ! Secondary interstitial lung disease specific to childhood associated with a granulomatous disease relationship: part_of Orphanet:280926 ! Systemic diseases with anterior uveitis relationship: part_of Orphanet:280930 ! Systemic diseases with posterior uveitis relationship: part_of Orphanet:280933 ! Systemic diseases with panuveitis relationship: part_of Orphanet:79391 ! Immune deficiency with skin involvement property_value: alternative:term "Chronic septic granulomatosis" xsd:string [Term] id: Orphanet:38 name: Acrokeratoelastoidosis of Costa xref: ICD10:Q82.8 xref: MESH:C535653 xref: OMIM:101850 xref: SNOMED CT:111029001 xref: UMLS:C0545044 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183441 ! Genetic acrokeratoderma relationship: part_of Orphanet:228224 ! Acquired dermis elastic tissue disorder with increased elastic tissue relationship: part_of Orphanet:307995 ! Marginal papular palmoplantar keratoderma relationship: part_of Orphanet:79356 ! Acrokeratoderma property_value: alternative:term "AKE" xsd:string property_value: alternative:term "PPKP3" xsd:string property_value: alternative:term "Punctate palmoplantar hyperkeratosis type 3" xsd:string property_value: alternative:term "Punctate palmoplantar keratoderma type 3" xsd:string [Term] id: Orphanet:380 name: Greig cephalopolysyndactyly syndrome xref: ICD10:Q87.0 xref: MEDDRA:10053878 xref: MESH:C537300 xref: OMIM:175700 xref: SNOMED CT:32985001 xref: UMLS:C0265306 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "GCPS" xsd:string [Term] id: Orphanet:381 name: Griscelli disease xref: ICD10:E70.3 xref: OMIM:214450 xref: OMIM:607624 xref: OMIM:609227 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:284811 ! Syndromic oculocutaneous albinism property_value: alternative:term "Chediak-Higashi like syndrome" xsd:string property_value: alternative:term "Griscelli-Pruniéras syndrome" xsd:string property_value: alternative:term "Partial albinism - immunodeficiency" xsd:string [Term] id: Orphanet:382 name: Guanidinoacetate methyltransferase deficiency xref: ICD10:E72.8 xref: MESH:C537622 xref: OMIM:612736 xref: SNOMED CT:124239003 xref: UMLS:C0574080 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182073 ! Syndromic neurometabolic disease with non-X-linked intellectual deficit relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79172 ! Disorder of creatine biosynthesis property_value: alternative:term "Cerebral creatine deficiency" xsd:string property_value: alternative:term "GAMT deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "GAMT deficiency is a creatine biosynthesis disorder with an onset between 3 months and three years of age and characterized by intellectual disability, seizures and behavioral problems, often in conjunction with pyramidal and/or extrapyramidal manifestations." xsd:string [Term] id: Orphanet:383 name: X-linked mixed deafness with perilymphatic gusher xref: ICD10:H90.8 xref: OMIM:304400 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:216445 ! Prelingual nonsyndromic genetic deafness property_value: alternative:term "Conductive deafness with stapes fixation" xsd:string property_value: alternative:term "DFNX2" xsd:string property_value: alternative:term "Nance deafness" xsd:string property_value: alternative:term "X-linked deafness type 2" xsd:string property_value: alternative:term "X-linked mixed conductive and neurosensory deafness" xsd:string property_value: alternative:term "X-linked mixed conductive and neurosensory hearing loss" xsd:string property_value: alternative:term "X-linked mixed conductive and sensorineural deafness" xsd:string property_value: alternative:term "X-linked mixed conductive and sensorineural hearing loss" xsd:string property_value: alternative:term "X-linked stapes gusher syndrome" xsd:string [Term] id: Orphanet:384 name: Palmoplantar keratoderma-sclerodactyly syndrome xref: ICD10:Q82.8 xref: OMIM:181600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:98352 ! Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature property_value: alternative:term "Huriez syndrome" xsd:string property_value: alternative:term "Palmoplantar hyperkeratosis-sclerodactyly syndrome" xsd:string property_value: alternative:term "Scleroatrophic syndrome" xsd:string property_value: alternative:term "Sclerotylosis" xsd:string [Term] id: Orphanet:385 name: Neurodegeneration with brain iron accumulation xref: ICD10:G23.0 xref: MESH:C538421 xref: UMLS:C2931845 is_a: Orphanet:158124 ! Genetic dementia is_a: Orphanet:182070 ! Rare neurodegenerative disease is_a: Orphanet:183500 ! Genetic neurodegenerative disease is_a: Orphanet:306695 ! Miscellaneous movement disorder due to neurodegenerative disease is_a: Orphanet:307058 ! Miscellaneous movement disorder due to genetic neurodegenerative disease is_a: Orphanet:68385 ! Neurometabolic disease is_a: Orphanet:89043 ! Rare dementia property_value: alternative:term "NBIA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system." xsd:string [Term] id: Orphanet:386 name: Hepatic cystic hamartoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:306636 ! Rare hepatic tumor property_value: alternative:term "Mesenchymal hamartoma of liver" xsd:string property_value: alternative:term "MHL" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hepatic cystic hamartoma, also named Mesenchyma hamartoma of liver, is a rare benign liver tumor of childhood, usually before the age of 2, of mesenchymal origin and variable clinical presentation (abdominal dissension, abdominal mass, pain, vomiting and signs of inferior vena cava compression)." xsd:string [Term] id: Orphanet:388 name: Hirschsprung disease xref: ICD10:Q43.1 xref: MEDDRA:10010539 xref: MESH:D006627 xref: OMIM:142623 xref: OMIM:600155 xref: OMIM:600156 xref: OMIM:606874 xref: OMIM:606875 xref: OMIM:608462 xref: OMIM:611644 xref: OMIM:613711 xref: OMIM:613712 xref: SNOMED CT:204739008 xref: SNOMED CT:360436002 xref: UMLS:C0019569 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:104009 ! Congenital intestinal motility disorder relationship: part_of Orphanet:108967 ! Nonsyndromic intestinal malformation property_value: alternative:term "Aganglionic megacolon" xsd:string property_value: alternative:term "Congenital intestinal aganglionosis" xsd:string property_value: alternative:term "HSCR" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon." xsd:string [Term] id: Orphanet:38874 name: Dihydropyrimidinuria xref: ICD10:E79.8 xref: OMIM:222748 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79193 ! Disorder of pyrimidine metabolism property_value: alternative:term "Dihydropyrimidinase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity." xsd:string [Term] id: Orphanet:389 name: Langerhans cell histiocytosis xref: ICD10:C96.0 xref: ICD10:C96.5 xref: ICD10:C96.6 xref: MEDDRA:10069698 xref: MESH:D006646 xref: OMIM:604856 xref: SNOMED CT:128809007 xref: SNOMED CT:190955000 xref: SNOMED CT:65399007 xref: UMLS:C0019621 is_a: Orphanet:182222 ! Rare systemic disease is_a: Orphanet:95617 ! Pituitary hormone deficiency secondary to a granulomatous disease is_a: Orphanet:98289 ! Dendritic cell tumor relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "Histiocytosis X" xsd:string property_value: alternative:term "Langerhans cell granulomatosis" xsd:string [Term] id: Orphanet:39 name: Acromelanosis xref: ICD10:L81.4 xref: SNOMED CT:239089006 xref: UMLS:C0406779 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin [Term] id: Orphanet:390 name: Histoplasmosis xref: ICD10:B39 xref: MEDDRA:10020141 xref: MEDDRA:10021808 xref: MESH:D006660 xref: SNOMED CT:12962009 xref: SNOMED CT:76255006 xref: UMLS:C0019655 xref: UMLS:C0153261 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163591 ! Rare mycosis property_value: alternative:term "Darling disease" xsd:string [Term] id: Orphanet:39041 name: Omenn syndrome xref: ICD10:D81.8 xref: MEDDRA:10069097 xref: OMIM:603554 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency property_value: alternative:term "Combined immunodeficiency with hypereosinophilia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term)." xsd:string [Term] id: Orphanet:39044 name: Uveal melanoma xref: ICD10:D03.8 xref: MEDDRA:10061252 xref: MESH:C536494 xref: OMIM:155700 xref: OMIM:155720 xref: OMIM:606660 xref: OMIM:606661 xref: SNOMED CT:255012009 xref: SNOMED CT:255021005 xref: UMLS:C0220633 xref: UMLS:C0346373 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:101950 ! Rare eye tumor property_value: alternative:term "Choroidal melanoma" xsd:string property_value: alternative:term "Iris melanoma" xsd:string [Term] id: Orphanet:391 name: Hodgkin lymphoma, classical xref: ICD10:C81 xref: OMIM:236000 xref: OMIM:300221 xref: OMIM:400021 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:98293 ! Hodgkin lymphoma property_value: alternative:term "Classical Hodgkin disease" xsd:string property_value: alternative:term "Classical Hodgkin's disease" xsd:string property_value: alternative:term "Classical Hodgkin's lymphoma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells." xsd:string [Term] id: Orphanet:392 name: Holt-Oram syndrome xref: ICD10:Q87.2 xref: MEDDRA:10050469 xref: MESH:C535326 xref: OMIM:142900 xref: SNOMED CT:19092004 xref: UMLS:C0265264 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:156532 ! Rare syndrome with cardiac malformations relationship: part_of Orphanet:228184 ! Heart-hand syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Atriodigital dysplasia type 1" xsd:string property_value: alternative:term "Heart-hand syndrome type 1" xsd:string property_value: alternative:term "HOS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects." xsd:string [Term] id: Orphanet:393 name: 46,XX testicular disorder of sex development xref: ICD10:Q99.1 xref: MESH:D058531 xref: OMIM:278850 xref: OMIM:300833 xref: OMIM:400045 xref: SNOMED CT:74398009 xref: UMLS:C0432475 xref: UMLS:C2936419 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:325055 ! 46,XX disorder of gonadal development relationship: part_of Orphanet:98048 ! Rare male infertility property_value: alternative:term "46,XX testicular DSD" xsd:string property_value: alternative:term "De la Chapelle syndrome" xsd:string property_value: alternative:term "XX, male syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency." xsd:string [Term] id: Orphanet:394 name: Classical homocystinuria xref: ICD10:E72.1 xref: OMIM:236200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:139009 ! Developmental anomaly of metabolic origin relationship: part_of Orphanet:225689 ! Amino acid or protein metabolism disease with epilepsy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79173 ! Disorder of methionine cycle and sulfur amino acid metabolism relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature relationship: part_of Orphanet:98653 ! Lens position anomaly relationship: part_of Orphanet:98712 ! Metabolic disease with cataract property_value: alternative:term "Cystathionine beta-synthase deficiency" xsd:string property_value: alternative:term "Homocystinuria due to cystathionine beta-synthase deficiency" xsd:string [Term] id: Orphanet:395 name: Homocystinuria due to methylene tetrahydrofolate reductase deficiency xref: ICD10:E72.1 xref: OMIM:236250 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:285657 ! Disorder of folate metabolism and transport property_value: alternative:term "Methylene tetrahydrofolate reductase deficiency" xsd:string property_value: alternative:term "MTHFR deficiency" xsd:string [Term] id: Orphanet:396 name: Chronic hiccup is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:101936 ! Rare gastro-esophageal disease property_value: alternative:term "Chronic hiccough" xsd:string [Term] id: Orphanet:397 name: Giant cell arteritis xref: ICD10:M31.6 xref: MEDDRA:10018250 xref: MEDDRA:10043207 xref: MESH:D013700 xref: OMIM:187360 xref: SNOMED CT:400130008 xref: SNOMED CT:414341000 xref: UMLS:C0039483 xref: UMLS:C1956391 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:156140 ! Predominantly large-vessel vasculitis relationship: part_of Orphanet:68362 ! Rare vascular disease relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "Horton disease" xsd:string property_value: alternative:term "Temporal arteritis" xsd:string [Term] id: Orphanet:39812 name: Graft versus host disease xref: ICD10:T86.0 xref: MEDDRA:10018651 xref: OMIM:614395 xref: SNOMED CT:234646005 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98004 ! Rare immune disease property_value: alternative:term "GVH" xsd:string [Term] id: Orphanet:399 name: Huntington disease xref: ICD10:G10 xref: MESH:D006816 xref: OMIM:143100 xref: SNOMED CT:58756001 xref: UMLS:C0020179 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:276058 ! Genetic neurodegenerative disease with dementia relationship: part_of Orphanet:306719 ! Neurodegenerative disease with chorea relationship: part_of Orphanet:98534 ! Neurodegenerative disease with dementia relationship: part_of Orphanet:98688 ! Oculomotor apraxia or related oculomotor disease property_value: alternative:term "Huntington chorea" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." xsd:string [Term] id: Orphanet:40 name: Acromesomelic dysplasia, Maroteaux type xref: ICD10:Q77.8 xref: MESH:C535661 xref: OMIM:602875 xref: UMLS:C1864356 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93437 ! Acromesomelic dysplasia [Term] id: Orphanet:400 name: Hydatidosis xref: ICD10:B67 xref: MEDDRA:10014096 xref: MESH:D004443 xref: SNOMED CT:74942003 xref: UMLS:C0013502 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163588 ! Rare parasitic disease [Term] id: Orphanet:401 name: Hymenolepiasis xref: ICD10:B71.0 xref: MEDDRA:10020546 xref: MESH:D006925 xref: SNOMED CT:44917000 xref: UMLS:C0020413 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163588 ! Rare parasitic disease [Term] id: Orphanet:403 name: Familial hyperaldosteronism type 1 xref: ICD10:E26.0 xref: OMIM:103900 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:156629 ! Genetic hypertension relationship: part_of Orphanet:235936 ! Familial hyperaldosteronism property_value: alternative:term "Dexamethasone sensitive hypertension" xsd:string property_value: alternative:term "FH1" xsd:string property_value: alternative:term "Glucocorticoid sensitive hypertension" xsd:string property_value: alternative:term "Glucocorticoid-remediable aldosteronism" xsd:string property_value: alternative:term "GRA" xsd:string [Term] id: Orphanet:40366 name: Acitretin embryofetopathy xref: ICD10:Q86.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:251529 ! Toxic or drug-related embryofetopathy property_value: alternative:term "Fetal acitretin syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acitretin embryofetopathy is a teratogenic disorder due to acitretin exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limbs anomalies." xsd:string [Term] id: Orphanet:404 name: Familial hyperaldosteronism type 2 xref: ICD10:E26.0 xref: OMIM:605635 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:100091 ! Adrenal/paraganglial tumor relationship: part_of Orphanet:235936 ! Familial hyperaldosteronism relationship: part_of Orphanet:271847 ! Genetic endocrine tumor property_value: alternative:term "Familial adrenal adenoma" xsd:string property_value: alternative:term "FH2" xsd:string [Term] id: Orphanet:405 name: Familial hypocalciuric hypercalcemia xref: ICD10:E83.5 xref: OMIM:145980 xref: OMIM:145981 xref: OMIM:600740 xref: SNOMED CT:237885008 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183634 ! Rare genetic parathyroid disease and phosphocalcic metabolism disorder relationship: part_of Orphanet:264719 ! Secondary interstitial lung disease specific to childhood associated with a metabolic disease relationship: part_of Orphanet:68415 ! Rare parathyroid diseases and phosphocalcic metabolism disorder relationship: part_of Orphanet:93447 ! Primary bone dysplasia with defective bone mineralization property_value: alternative:term "Familial benign hypercalcemia" xsd:string property_value: alternative:term "Familial benign hypocalciuric hypercalcemia" xsd:string property_value: alternative:term "FBH" xsd:string property_value: alternative:term "FBHH" xsd:string property_value: alternative:term "FHH" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of mineral metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration." xsd:string [Term] id: Orphanet:407 name: Glycine encephalopathy xref: ICD10:E72.5 xref: OMIM:605899 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:225689 ! Amino acid or protein metabolism disease with epilepsy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79194 ! Disorder of serine or glycine metabolism property_value: alternative:term "Non-ketotic hyperglycinemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity." xsd:string [Term] id: Orphanet:408 name: Isolated glycerol kinase deficiency xref: ICD10:E74.8 xref: MESH:C538138 xref: OMIM:307030 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:308993 ! Glycerol kinase deficiency property_value: alternative:term "Hyperglycerolemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations depending on the age of onset and varying from life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms))." xsd:string [Term] id: Orphanet:409 name: Hyperkeratosis lenticularis perstans xref: MESH:C538377 xref: OMIM:144150 xref: SNOMED CT:28488007 xref: UMLS:C0263420 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79359 ! Other epidermis disorder relationship: part_of Orphanet:79360 ! Other genetic epidermal disease property_value: alternative:term "Flegel disease" xsd:string [Term] id: Orphanet:40923 name: Eales disease xref: ICD10:H35.0 xref: MEDDRA:10057429 xref: MESH:C538011 xref: SNOMED CT:54122009 xref: UMLS:C0271073 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101949 ! Rare acquired eye disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss." xsd:string [Term] id: Orphanet:41 name: Dyschromatosis symmetrica hereditaria xref: ICD10:L81.8 xref: MESH:C535729 xref: OMIM:127400 xref: SNOMED CT:239085000 xref: UMLS:C0406775 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin property_value: alternative:term "Acropigmentation of Dohi" xsd:string [Term] id: Orphanet:411 name: Hyperlipoproteinemia type 1 xref: ICD10:E78.3 xref: MEDDRA:10020606 xref: MESH:D008072 xref: OMIM:118830 xref: OMIM:207750 xref: OMIM:238600 xref: SNOMED CT:238086005 xref: SNOMED CT:267435002 xref: SNOMED CT:275598004 xref: SNOMED CT:403827000 xref: UMLS:C0023817 xref: UMLS:C1706413 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:181425 ! Major hypertriglyceridemia property_value: alternative:term "Familial hyperchylomicronemia" xsd:string [Term] id: Orphanet:412 name: Hyperlipidemia type 3 xref: ICD10:E78.2 xref: MEDDRA:10060751 xref: MESH:D006952 xref: SNOMED CT:398796005 xref: UMLS:C0020479 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:79211 ! Mixed hyperlipidemia property_value: alternative:term "Broad-betalipoproteinemia" xsd:string property_value: alternative:term "Hyperlipoproteinemia type 3" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hyperlipoproteinemia(HLP) type 3 is a rare mixed hyperlipidemia characterized by high levels of very low density lipoprotein (VLDL) cholesterol and triglycerides in the blood that increase the risk of premature atherosclerosis and cardiovascular disease." xsd:string [Term] id: Orphanet:413 name: Hyperlipoproteinemia type 4 xref: ICD10:E78.1 xref: MEDDRA:10059183 xref: MEDDRA:10060753 xref: MESH:D006953 xref: OMIM:144600 xref: OMIM:145750 xref: SNOMED CT:238085009 xref: SNOMED CT:267433009 xref: SNOMED CT:34528009 xref: UMLS:C0020480 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:181425 ! Major hypertriglyceridemia property_value: alternative:term "Familial hypertriglyceridemia" xsd:string [Term] id: Orphanet:414 name: Gyrate atrophy of choroid and retina xref: ICD10:E72.4 xref: MESH:C537132 xref: OMIM:258870 xref: SNOMED CT:276426004 xref: SNOMED CT:33985005 xref: UMLS:C0599035 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:289869 ! Disorder of ornithine metabolism relationship: part_of Orphanet:71862 ! Retinal dystrophy relationship: part_of Orphanet:98662 ! Unclassified familial retinal dystrophy relationship: part_of Orphanet:98712 ! Metabolic disease with cataract relationship: part_of Orphanet:98713 ! Metabolic disease with pigmentary retinitis property_value: alternative:term "HOGA" xsd:string property_value: alternative:term "Hyperornithinemia" xsd:string property_value: alternative:term "Hyperornithinemia - gyrate atrophy of choroid and retina" xsd:string property_value: alternative:term "Ornithine aminotransferase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hyperornithinemia is an inborn disorder of ornithine metabolism due to mitochondrial ornithine aminotransferase deficiency.The main clinical manifestation of the disease is gyrate atrophy of the choroid and retina that begins during childhood with myopia and night blindness, followed by concentric shrinking of the visual field (tunnel vision) and a peculiar aspect of retinopathy on the funduscopy. The electroretinogram soon goes flat. Patients often develop subcapsular posterior cataract between the ages of 10 and 20 and become virtually blind between the ages of 40 and 50. Most patients have normal intelligence." xsd:string [Term] id: Orphanet:415 name: Hyperornithinemia-hyperammonemia-homocitrullinuria xref: ICD10:E72.4 xref: OMIM:238970 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:79167 ! Disorder of urea cycle metabolism and ammonia detoxification property_value: alternative:term "HHH syndrome" xsd:string property_value: alternative:term "Triple H syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Triple H syndrome (hyperornithinemia, hyperammonemia, and homocitrullinuria) is a very rare autosomal recessive genetic disease due to defective transportation of ornithine into the mitochondria. Onset may be neonatal, infantile or juvenile (until adolescence). The initial clinical signs are coma due to hyperammonemia, convulsions, and hypotonia." xsd:string [Term] id: Orphanet:416 name: Primary hyperoxaluria xref: ICD10:E74.8 xref: MEDDRA:10020703 xref: MESH:D006959 xref: OMIM:259900 xref: OMIM:260000 xref: OMIM:613616 xref: UMLS:C0020500 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:308998 ! Disorder of glyoxylate metabolism relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy relationship: part_of Orphanet:98713 ! Metabolic disease with pigmentary retinitis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Primary hyperoxaluria is a rare disorder of glycoxylate metabolism characterized by an excess of oxalate resulting in manifestations ranging from occasional renal stones, recurrent nephrolithiasis and nephrocalcinosis to end-stage renal disease and systemic oxalosis. Presenting symtoms may commence from the neonatal period to adulthood. Three different types are well recognized: primary hyperoxaluria type 1, type 2 and type 3 (see these terms)." xsd:string [Term] id: Orphanet:417 name: Neonatal severe primary hyperparathyroidism xref: ICD10:E21.0 xref: OMIM:239200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:181408 ! Rare hyperparathyroidism relationship: part_of Orphanet:208596 ! Genetic hyperparathyroidism relationship: part_of Orphanet:93447 ! Primary bone dysplasia with defective bone mineralization property_value: alternative:term "NSHPT" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " 3.5 mM) from birth and associated with major hyperparathyroidism." xsd:string [Term] id: Orphanet:41751 name: Bietti crystalline dystrophy xref: ICD10:H15.5 xref: OMIM:210370 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:227786 ! Familial flecked retinopathy property_value: alternative:term "BCD" xsd:string property_value: alternative:term "Bietti crystalline corneoretinal dystrophy" xsd:string property_value: alternative:term "Bietti crystalline retinopathy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness." xsd:string [Term] id: Orphanet:418 name: Congenital adrenal hyperplasia xref: ICD10:E25.0 xref: MEDDRA:10010323 xref: MESH:D000312 xref: OMIM:201710 xref: OMIM:201810 xref: OMIM:201910 xref: OMIM:202010 xref: OMIM:202110 xref: OMIM:613571 xref: SNOMED CT:237751000 xref: UMLS:C0001627 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:101960 ! Genetic chronic primary adrenal insufficiency relationship: part_of Orphanet:181412 ! Adrenogenital syndrome relationship: part_of Orphanet:90692 ! Rare endocrine growth disease property_value: alternative:term "CAH" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease." xsd:string [Term] id: Orphanet:419 name: Hyperprolinemia type 1 xref: ICD10:E72.5 xref: OMIM:239500 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:225689 ! Amino acid or protein metabolism disease with epilepsy relationship: part_of Orphanet:289866 ! Disorder of proline metabolism relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "Proline oxidase deficiency" xsd:string [Term] id: Orphanet:42 name: Medium chain acyl-CoA dehydrogenase deficiency xref: ICD10:E71.3 xref: MESH:C536038 xref: OMIM:201450 xref: SNOMED CT:128596003 xref: UMLS:C0220710 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:309120 ! Acyl-CoA dehydrogenase deficiency property_value: alternative:term "MCAD deficiency" xsd:string property_value: alternative:term "MCADD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an inborn error of mitochondrial fatty acid oxidation, clinically characterised by acute episodes of hypoketotic hypoglycemia with hepatomegaly (pseudo Reye syndrome), triggered by fasting or infections, which occur generally within the two first years of life. There is no muscle nor cardiac involvement." xsd:string [Term] id: Orphanet:42062 name: Iminoglycinuria xref: ICD10:E72.0 xref: MESH:C536285 xref: OMIM:242600 xref: SNOMED CT:84121007 xref: UMLS:C0268654 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:308451 ! Disorder of neutral amino acid transport [Term] id: Orphanet:422 name: Idiopathic and/or familial pulmonary arterial hypertension xref: ICD10:I27.0 xref: OMIM:178600 xref: OMIM:265400 xref: OMIM:615342 xref: OMIM:615343 xref: OMIM:615344 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:156610 ! Rare genetic respiratory disease relationship: part_of Orphanet:182090 ! Pulmonary arterial hypertension [Term] id: Orphanet:423 name: Malignant hyperthermia xref: ICD10:T88.3 xref: MEDDRA:10020844 xref: MESH:D008305 xref: OMIM:145600 xref: OMIM:154275 xref: OMIM:154276 xref: OMIM:600467 xref: OMIM:601887 xref: OMIM:601888 xref: SNOMED CT:405501007 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:352298 ! Genetic muscular channelopathy relationship: part_of Orphanet:71864 ! Muscular channelopathy property_value: alternative:term "Hyperthermia of anesthesia" xsd:string property_value: alternative:term "Malignant hyperpyrexia" xsd:string property_value: alternative:term "Pharmacogenetic myopathy of anesthesia" xsd:string [Term] id: Orphanet:424 name: Familial hyperthyroidism due to mutations in TSH receptor xref: ICD10:E05.8 xref: OMIM:609152 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:156629 ! Genetic hypertension relationship: part_of Orphanet:181399 ! Rare hyperthyroidism property_value: alternative:term "Familial non-immune hyperthyroidism" xsd:string property_value: alternative:term "Resistance to thyroid stimulating hormone" xsd:string [Term] id: Orphanet:425 name: Apolipoprotein A-I deficiency xref: ICD10:E78.6 xref: MEDDRA:10065133 xref: MESH:D052456 xref: OMIM:604091 xref: SNOMED CT:15346004 xref: SNOMED CT:238095002 xref: UMLS:C0342898 xref: UMLS:C1704429 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:31153 ! Hypoalphalipoproteinemia property_value: alternative:term "ApoA-I deficiency" xsd:string property_value: alternative:term "Familial apoA-I deficiency" xsd:string property_value: alternative:term "Familial hypoalphalipoproteinemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD)." xsd:string [Term] id: Orphanet:42642 name: Marshall syndrome with periodic fever xref: ICD10:E85.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102237 ! Unexplained periodic fever syndrome relationship: part_of Orphanet:290839 ! Autoinflammatory syndrome with immune deficiency property_value: alternative:term "Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome" xsd:string property_value: alternative:term "PFAPA syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Periodic Fever with Aphthous stomatitis, Pharyngitis and cervical Adenitis (PFAPA) syndrome, is a pediatric disease characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis." xsd:string [Term] id: Orphanet:42665 name: Tietz syndrome xref: MESH:C536919 xref: OMIM:103500 xref: UMLS:C0391816 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183469 ! Genetic hypopigmentation of the skin relationship: part_of Orphanet:79376 ! Hypopigmentation of the skin relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98708 ! Pigmentation disorder with eye involvement, excluding albinism property_value: alternative:term "Hypopigmentation-deafness syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." xsd:string [Term] id: Orphanet:427 name: Familial hypoaldosteronism xref: ICD10:E27.4 xref: OMIM:203400 xref: OMIM:606984 xref: OMIM:610600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:181419 ! Rare hypoaldosteronism relationship: part_of Orphanet:183637 ! Rare genetic adrenal disease [Term] id: Orphanet:42738 name: Severe congenital neutropenia xref: ICD10:D70 xref: MEDDRA:10052210 xref: MESH:C537592 xref: SNOMED CT:89655007 xref: UMLS:C1853118 is_a: Orphanet:101987 ! Constitutional neutropenia relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 [Term] id: Orphanet:42775 name: PHACE syndrome xref: ICD10:Q87.8 xref: OMIM:606519 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102006 ! Neurovascular malformation relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:156532 ! Rare syndrome with cardiac malformations relationship: part_of Orphanet:211237 ! Vascular tumor relationship: part_of Orphanet:269523 ! Syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:269567 ! Genetic syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:371436 ! Genetic neurovascular malformation relationship: part_of Orphanet:98592 ! Palpebral tumor with a vascular malformation property_value: alternative:term "Pascual-Castroviejo syndrome type 2" xsd:string [Term] id: Orphanet:428 name: Autosomal dominant hypocalcemia xref: ICD10:E20.8 xref: OMIM:601198 xref: OMIM:615361 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2238 ! Familial isolated hypoparathyroidism property_value: alternative:term "AD hypocalcemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria." xsd:string [Term] id: Orphanet:429 name: Hypochondroplasia xref: ICD10:Q77.4 xref: MEDDRA:10020967 xref: OMIM:146000 xref: SNOMED CT:205468002 xref: UMLS:C0410529 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:364536 ! Primary bone dysplasia with micromelia relationship: part_of Orphanet:93420 ! FGFR3-related chondrodysplasia [Term] id: Orphanet:43 name: X-linked adrenoleukodystrophy xref: ICD10:E71.3 xref: MEDDRA:10051260 xref: MESH:D000326 xref: OMIM:300100 xref: OMIM:302700 xref: SNOMED CT:65389002 xref: UMLS:C0162309 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:101960 ! Genetic chronic primary adrenal insufficiency relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:225686 ! Peroxisomal disease with epilepsy relationship: part_of Orphanet:68356 ! Leukodystrophy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79188 ! Peroxisomal beta-oxidation disorder relationship: part_of Orphanet:98048 ! Rare male infertility relationship: part_of Orphanet:98543 ! Metabolic disease with dementia property_value: alternative:term "ALD" xsd:string property_value: alternative:term "X-ALD" xsd:string property_value: alternative:term "X-linked ALD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." xsd:string [Term] id: Orphanet:430 name: Hypodermyiasis xref: ICD10:B87.0 xref: MESH:D007000 xref: SNOMED CT:240879002 xref: UMLS:C0020607 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:165961 ! Subcutaneous myiasis [Term] id: Orphanet:431 name: Ichthyosis - male hypogonadism is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_1643 with label: Xp22.3 microdeletion syndrome" xsd:string [Term] id: Orphanet:43115 name: Hereditary myopathy with lactic acidosis due to ISCU deficiency xref: OMIM:255125 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254843 ! Exercise intolerance with lactic acidosis relationship: part_of Orphanet:98486 ! Metabolic myopathy property_value: alternative:term "Aconitase deficiency" xsd:string property_value: alternative:term "Iron-sulphur cluster deficiency myopathy" xsd:string property_value: alternative:term "ISCU myopathy" xsd:string property_value: alternative:term "Myopathy with exercise intolerance, Swedish type" xsd:string [Term] id: Orphanet:43116 name: Serotonin syndrome xref: MEDDRA:10040108 xref: MESH:D020230 xref: SNOMED CT:371089000 xref: UMLS:C0699828 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98006 ! Rare neurologic disease property_value: alternative:term "Serotonergic syndrome" xsd:string property_value: alternative:term "Serotonin storm" xsd:string property_value: alternative:term "Serotonin toxicity" xsd:string property_value: alternative:term "Serotonin toxidrome" xsd:string [Term] id: Orphanet:43117 name: Acute tricyclic antidepressant poisoning xref: ICD10:T43.0 is_a: Orphanet:377793 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! particular clinical situation in a disease or syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108999 ! Rare intoxication relationship: part_of Orphanet:306640 ! Rare intoxication due to medical products [Term] id: Orphanet:43119 name: Acute poisoning by drugs with membrane-stabilizing effect is_a: Orphanet:377793 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! particular clinical situation in a disease or syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108999 ! Rare intoxication relationship: part_of Orphanet:306640 ! Rare intoxication due to medical products [Term] id: Orphanet:432 name: Normosmic congenital hypogonadotropic hypogonadism xref: ICD10:E23.0 xref: OMIM:146110 xref: OMIM:147950 xref: OMIM:228300 xref: OMIM:244200 xref: OMIM:308700 xref: OMIM:610628 xref: OMIM:612370 xref: OMIM:612702 xref: OMIM:614837 xref: OMIM:614838 xref: OMIM:614839 xref: OMIM:614840 xref: OMIM:614841 xref: OMIM:614842 xref: OMIM:614858 xref: OMIM:614880 xref: OMIM:615266 xref: OMIM:615269 xref: OMIM:615270 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:238666 ! Isolated congenital hypogonadotropic hypogonadism property_value: alternative:term "Gonadotropic deficiency" xsd:string property_value: alternative:term "Isolated congenital gonadotropin deficiency" xsd:string property_value: alternative:term "nIHH" xsd:string property_value: alternative:term "normosmic idiopathic hypogonadotropic hypogonadism" xsd:string [Term] id: Orphanet:43393 name: Lambert-Eaton myasthenic syndrome xref: ICD10:G73.1 xref: MEDDRA:10067685 xref: MESH:D015624 xref: SNOMED CT:56989000 xref: UMLS:C0022972 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:36388 ! Paraneoplastic neurologic syndrome relationship: part_of Orphanet:98494 ! Acquired neuromuscular junction disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC)." xsd:string [Term] id: Orphanet:435 name: Ito hypomelanosis xref: ICD10:Q87.8 xref: OMIM:300337 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:166466 ! Neurocutaneous syndrome with epilepsy relationship: part_of Orphanet:183469 ! Genetic hypopigmentation of the skin relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:79376 ! Hypopigmentation of the skin relationship: part_of Orphanet:98708 ! Pigmentation disorder with eye involvement, excluding albinism property_value: alternative:term "HI syndrome" xsd:string property_value: alternative:term "Hypomelanosis of Ito" xsd:string property_value: alternative:term "Incontinentia pigmenti type 1" xsd:string property_value: alternative:term "Pigmentary mosaicism, Ito type" xsd:string [Term] id: Orphanet:436 name: Hypophosphatasia xref: ICD10:E83.3 xref: MEDDRA:10049933 xref: MESH:D007014 xref: OMIM:146300 xref: OMIM:241500 xref: OMIM:241510 xref: SNOMED CT:190859005 xref: SNOMED CT:360792001 xref: UMLS:C0020630 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139009 ! Developmental anomaly of metabolic origin relationship: part_of Orphanet:93447 ! Primary bone dysplasia with defective bone mineralization property_value: alternative:term "HPP" xsd:string property_value: alternative:term "Phosphoethanolaminuria" xsd:string property_value: alternative:term "Rathburn disease" xsd:string [Term] id: Orphanet:437 name: Hypophosphatemic rickets xref: ICD10:E83.3 is_a: Orphanet:183592 ! Genetic renal tubular disease is_a: Orphanet:289098 ! Disorders of vitamin D metabolism is_a: Orphanet:93603 ! Rare renal tubular disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium." xsd:string [Term] id: Orphanet:439 name: Right ventricular hypoplasia xref: ICD10:Q22.6 xref: OMIM:277200 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98723 ! Hypoplastic right heart syndrome [Term] id: Orphanet:44 name: Neonatal adrenoleukodystrophy xref: ICD10:E71.3 xref: MESH:D018901 xref: OMIM:202370 xref: OMIM:266510 xref: OMIM:601539 xref: OMIM:614863 xref: OMIM:614867 xref: OMIM:614871 xref: OMIM:614873 xref: OMIM:614877 xref: OMIM:614885 xref: OMIM:614920 xref: SNOMED CT:238061001 xref: UMLS:C0282525 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101960 ! Genetic chronic primary adrenal insufficiency relationship: part_of Orphanet:225686 ! Peroxisomal disease with epilepsy relationship: part_of Orphanet:79189 ! Peroxisome biogenesis disorder-Zellweger syndrome spectrum relationship: part_of Orphanet:98713 ! Metabolic disease with pigmentary retinitis property_value: alternative:term "NALD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term)." xsd:string [Term] id: Orphanet:440 name: Familial hypospadias xref: ICD10:Q54 xref: OMIM:146450 xref: OMIM:300633 xref: OMIM:300758 xref: OMIM:300856 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:156622 ! Genetic urogenital tract malformation relationship: part_of Orphanet:182121 ! Nonsyndromic urogenital tract malformation of male [Term] id: Orphanet:441 name: Pure autonomic failure xref: ICD10:G90.3 xref: MESH:C544351 xref: MESH:D054970 xref: SNOMED CT:84438001 xref: UMLS:C0393911 xref: UMLS:C2931939 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:182058 ! Primary orthostatic hypotension property_value: alternative:term "Bradbury-Eggleston syndrome" xsd:string property_value: alternative:term "Idiopathic orthostatic hypotension" xsd:string property_value: alternative:term "PAF" xsd:string property_value: alternative:term "Pure dysautonomia" xsd:string property_value: alternative:term "Pure idiopatic dysautonomia" xsd:string [Term] id: Orphanet:442 name: Congenital hypothyroidism xref: ICD10:E00 xref: ICD10:E03.0 xref: ICD10:E03.1 xref: MEDDRA:10010510 xref: MESH:D003409 xref: SNOMED CT:190268003 is_a: Orphanet:181396 ! Rare hypothyroidism is_a: Orphanet:90692 ! Rare endocrine growth disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth." xsd:string [Term] id: Orphanet:444 name: Marie Unna hereditary hypotrichosis xref: ICD10:Q84.0 xref: MESH:C535912 xref: OMIM:146550 xref: OMIM:612841 xref: UMLS:C2931059 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79364 ! Alopecia property_value: alternative:term "Hypotrichosis, Marie Unna type" xsd:string property_value: alternative:term "Marie Unna congenital hypotrichosis" xsd:string property_value: alternative:term "MUHH" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty." xsd:string [Term] id: Orphanet:446 name: Neonatal hemochromatosis xref: ICD10:E83.1 xref: MESH:C536394 xref: OMIM:231100 xref: SNOMED CT:6160004 xref: UMLS:C0268059 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:309842 ! Disorder of iron metabolism and transport [Term] id: Orphanet:447 name: Paroxysmal nocturnal hemoglobinuria xref: ICD10:D59.5 xref: MEDDRA:10034042 xref: MESH:D006457 xref: OMIM:300818 xref: OMIM:615399 xref: SNOMED CT:1963002 xref: UMLS:C0024790 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:158300 ! Rare genetic hematologic disease relationship: part_of Orphanet:164823 ! Rare acquired medullar aplasia relationship: part_of Orphanet:182047 ! Rare acquired hemolytic anemia relationship: part_of Orphanet:309515 ! Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation property_value: alternative:term "Marchiafava-Micheli disease" xsd:string property_value: alternative:term "PNH" xsd:string [Term] id: Orphanet:448 name: Hemophilia xref: ICD10:D66 xref: ICD10:D67 xref: MEDDRA:10061992 xref: SNOMED CT:90935002 xref: UMLS:C0684275 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:68334 ! Rare hemorrhagic disorder due to a constitutional coagulation factors defect [Term] id: Orphanet:44890 name: Gastrointestinal stromal tumor xref: ICD10:C26.9 xref: MEDDRA:10051066 xref: MESH:D046152 xref: OMIM:606764 xref: SNOMED CT:128756002 xref: SNOMED CT:420120006 xref: UMLS:C0238198 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:104011 ! Intestinal tumor relationship: part_of Orphanet:271835 ! Genetic digestive tract tumor property_value: alternative:term "GIST" xsd:string [Term] id: Orphanet:449 name: Hepatoblastoma xref: ICD10:C22.2 xref: MEDDRA:10062001 xref: MESH:D018197 xref: SNOMED CT:109843000 xref: SNOMED CT:45024009 xref: UMLS:C0206624 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:306636 ! Rare hepatic tumor [Term] id: Orphanet:45 name: Adenosine monophosphate deaminase deficiency xref: ICD10:G71.3 xref: MESH:C538234 xref: OMIM:612874 xref: SNOMED CT:124525004 xref: SNOMED CT:9105005 xref: UMLS:C0268123 xref: UMLS:C2931781 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206966 ! Mitochondrial myopathy relationship: part_of Orphanet:79191 ! Disorder of purine metabolism property_value: alternative:term "AMP deaminase deficiency" xsd:string property_value: alternative:term "Myoadenylate deaminase deficiency" xsd:string [Term] id: Orphanet:450 name: Heterotaxia xref: OMIM:270100 xref: OMIM:306955 xref: OMIM:601086 xref: OMIM:605376 xref: OMIM:606325 xref: OMIM:613751 xref: OMIM:614779 is_a: Orphanet:98716 ! Heart position anomaly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "Heterotaxy syndrome" xsd:string property_value: alternative:term "Lateralization defect" xsd:string property_value: alternative:term "Visceral heterotaxy" xsd:string [Term] id: Orphanet:452 name: X-linked lissencephaly with abnormal genitalia xref: ICD10:Q04.0 xref: ICD10:Q04.3 xref: OMIM:300215 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102010 ! Other syndrome with lissencephaly as a major feature relationship: part_of Orphanet:182079 ! ARX-related epileptic encephalopathy relationship: part_of Orphanet:199639 ! Syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:269573 ! Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:98087 ! Syndrome with 46,XY disorder of sex development relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies" xsd:string property_value: alternative:term "X-linked lissencephaly with ambiguous genitalia" xsd:string property_value: alternative:term "XLAG syndrome" xsd:string [Term] id: Orphanet:453 name: IBIDS syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_33364 with label: Trichothiodystrophy" xsd:string [Term] id: Orphanet:45358 name: Congenital fibrosis of extraocular muscles xref: ICD10:H49.8 xref: OMIM:135700 xref: OMIM:600638 xref: OMIM:602078 xref: OMIM:609384 xref: OMIM:609428 xref: OMIM:609612 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: part_of Orphanet:206644 ! Progressive muscular dystrophy relationship: part_of Orphanet:98578 ! Ptosis relationship: part_of Orphanet:98683 ! Syndrome with a symptomatic strabismus property_value: alternative:term "FEOM" xsd:string [Term] id: Orphanet:45360 name: Meniere disease xref: ICD10:H81.0 xref: MEDDRA:10027183 xref: MESH:D008575 xref: OMIM:156000 xref: SNOMED CT:13445001 xref: UMLS:C0025281 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:98036 ! Rare otorhinolaryngologic disease [Term] id: Orphanet:454 name: Acquired ichthyosis xref: ICD10:L85.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79354 ! Ichthyosis [Term] id: Orphanet:45448 name: Miyoshi myopathy xref: ICD10:G71.0 xref: MESH:C537480 xref: OMIM:254130 xref: OMIM:613318 xref: OMIM:613319 xref: UMLS:C1850808 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:206653 ! Autosomal recessive distal myopathy relationship: part_of Orphanet:207073 ! Qualitative or quantitative defects of dysferlin property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Miyoshi myopathy (MM) is a distal myopathy (see this term) characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and is associated with difficulties in standing on tip toes." xsd:string [Term] id: Orphanet:45452 name: Idiopathic neonatal atrial flutter xref: ICD10:I48 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:218439 ! Acquired cardiac rythm disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops." xsd:string [Term] id: Orphanet:45453 name: Incessant infant ventricular tachycardia xref: ICD10:I47.2 xref: SNOMED CT:233908008 xref: UMLS:C0340487 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:218439 ! Acquired cardiac rythm disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure." xsd:string [Term] id: Orphanet:455 name: Superficial epidermolytic ichthyosis xref: ICD10:Q80.8 xref: MESH:D053560 xref: OMIM:146800 xref: SNOMED CT:254169002 xref: UMLS:C0432306 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:281103 ! Keratinopathic ichthyosis property_value: alternative:term "Ichthyosis bullosa of Siemens" xsd:string property_value: alternative:term "SEI" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth." xsd:string [Term] id: Orphanet:457 name: Harlequin ichthyosis xref: ICD10:Q80.4 xref: OMIM:242500 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:281097 ! Autosomal recessive congenital ichthyosis property_value: alternative:term "HI" xsd:string property_value: alternative:term "Ichthyosis congenita, harlequin type" xsd:string property_value: alternative:term "Ichthyosis fetalis, Harlequin type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma." xsd:string [Term] id: Orphanet:46 name: Adenylosuccinate lyase deficiency xref: ICD10:E79.8 xref: MESH:C538235 xref: OMIM:103050 xref: SNOMED CT:15285008 xref: UMLS:C0268126 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:180772 ! Rare disease with autism relationship: part_of Orphanet:182073 ! Syndromic neurometabolic disease with non-X-linked intellectual deficit relationship: part_of Orphanet:79191 ! Disorder of purine metabolism property_value: alternative:term "Adenylosuccinase deficiency" xsd:string property_value: alternative:term "ADSL deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Adenylosuccinate lyase deficiency, also called adenylosuccinase deficiency, is an autosomal recessive inherited disorder of purine metabolism. Clinical signs are non-specific and include psychomotor retardation, epileptic seizures, and behavioral disorders similar to autism. All of these may be associated with growth retardation and amyotrophy." xsd:string [Term] id: Orphanet:46059 name: Lathosterolosis xref: ICD10:Q87.8 xref: MESH:C537880 xref: OMIM:607330 xref: UMLS:C1846421 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139009 ! Developmental anomaly of metabolic origin relationship: part_of Orphanet:79195 ! Sterol biosynthesis disorder property_value: alternative:term "Sterol C5-desaturase deficiency" xsd:string [Term] id: Orphanet:461 name: Recessive X-linked ichthyosis xref: ICD10:Q80.1 xref: MEDDRA:10048063 xref: MESH:D016114 xref: OMIM:300001 xref: OMIM:308100 xref: SNOMED CT:402771003 xref: UMLS:C0079588 xref: UMLS:C2717836 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:281082 ! Inherited ichthyosis nonsyndromic form relationship: part_of Orphanet:98628 ! Syndromic corneal dystrophy relationship: part_of Orphanet:98698 ! Ichthyosis associated with ocular features relationship: part_of Orphanet:98711 ! Metabolic disease with corneal opacity property_value: alternative:term "RXLI" xsd:string property_value: alternative:term "Steroid sulfatase deficiency" xsd:string property_value: alternative:term "X-linked ichthyosis" xsd:string property_value: alternative:term "XLI" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin." xsd:string [Term] id: Orphanet:46135 name: Primary central nervous system lymphoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:279911 ! Primary organ-specific lymphoma relationship: part_of Orphanet:289644 ! Epstein-Barr virus-associated malignant lymphoproliferative disorder relationship: part_of Orphanet:98062 ! Rare nervous system tumor property_value: alternative:term "PCNSL" xsd:string property_value: alternative:term "Primary brain lymphoma" xsd:string property_value: alternative:term "Primary CNS lymphoma" xsd:string [Term] id: Orphanet:463 name: Adrenal incidentaloma xref: ICD10:D35.0 xref: MEDDRA:10068763 xref: MESH:C538238 xref: SNOMED CT:127021009 xref: UMLS:C2609247 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:100091 ! Adrenal/paraganglial tumor property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "1 cm in diameter discovered fortuitously during an imaging examination for conditions unrelated to adrenal disease." xsd:string [Term] id: Orphanet:46348 name: Paroxysmal extreme pain disorder xref: OMIM:167400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:71859 ! Rare genetic neurological disease relationship: part_of Orphanet:98006 ! Rare neurologic disease property_value: alternative:term "Familial rectal pain" xsd:string [Term] id: Orphanet:464 name: Incontinentia pigmenti xref: ICD10:Q82.3 xref: MESH:D007184 xref: OMIM:308300 xref: SNOMED CT:367520004 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:166466 ! Neurocutaneous syndrome with epilepsy relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit relationship: part_of Orphanet:98583 ! Precancerous lesion of palpebral epidermis relationship: part_of Orphanet:98649 ! Dentocutaneous disease with cataract relationship: part_of Orphanet:98669 ! Congenital vitreoretinal dysplasia relationship: part_of Orphanet:98708 ! Pigmentation disorder with eye involvement, excluding albinism property_value: alternative:term "Bloch-Siemens syndrome" xsd:string property_value: alternative:term "Bloch-Sulzberger syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS)." xsd:string [Term] id: Orphanet:46484 name: Oligodendroglial tumor xref: OMIM:137800 is_a: Orphanet:182067 ! Glial tumor relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:46485 name: Superficial pemphigus is_a: Orphanet:79669 ! Autoimmune bullous skin disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 [Term] id: Orphanet:46486 name: Mucous membrane pemphigoid xref: ICD10:L12.1 xref: MEDDRA:10057052 xref: OMIM:164185 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79669 ! Autoimmune bullous skin disease property_value: alternative:term "Cicatricial pemphigoid" xsd:string property_value: alternative:term "Mucosal pemphigoid" xsd:string property_value: alternative:term "Mucosynechial pemphigoid" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane." xsd:string [Term] id: Orphanet:46487 name: Acquired epidermolysis bullosa xref: ICD10:L12.3 xref: MEDDRA:10056508 xref: SNOMED CT:2772003 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79669 ! Autoimmune bullous skin disease property_value: alternative:term "Epidermolysis bullosa acquisita" xsd:string [Term] id: Orphanet:46488 name: Linear IgA dermatosis xref: ICD10:L10.8 xref: MEDDRA:10024515 xref: SNOMED CT:95330001 xref: UMLS:C0406650 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:79669 ! Autoimmune bullous skin disease [Term] id: Orphanet:46489 name: Bullous systemic lupus erythematosus xref: ICD10:M32.8 xref: SNOMED CT:239889005 xref: UMLS:C0409977 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:163528 ! Acute cutaneous lupus erythematosus relationship: part_of Orphanet:182228 ! Systemic autoimmune disease relationship: part_of Orphanet:90077 ! Other acquired skin disease property_value: alternative:term "BSLE" xsd:string [Term] id: Orphanet:465 name: Congenital plasminogen activator inhibitor type 1 deficiency xref: ICD10:D68.8 xref: OMIM:613329 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:68334 ! Rare hemorrhagic disorder due to a constitutional coagulation factors defect property_value: alternative:term "Congenital PAI-1 deficiency" xsd:string [Term] id: Orphanet:46532 name: Hereditary persistence of fetal hemoglobin - beta-thalassemia xref: ICD10:D56.4 xref: OMIM:141749 xref: OMIM:142335 xref: OMIM:142470 xref: OMIM:305435 xref: OMIM:613566 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:231230 ! Beta-thalassemia associated with another hemoglobin anomaly property_value: alternative:term "HPFH - beta-thalassemia" xsd:string [Term] id: Orphanet:466 name: Fatal familial insomnia xref: ICD10:A81.8 xref: MESH:D034062 xref: OMIM:600072 xref: SNOMED CT:83157008 xref: UMLS:C0206042 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:158124 ! Genetic dementia relationship: part_of Orphanet:280400 ! Inherited prion disease [Term] id: Orphanet:46627 name: Char syndrome xref: ICD10:Q87.8 xref: MESH:C538076 xref: OMIM:169100 xref: UMLS:C1868570 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:98578 ! Ptosis property_value: alternative:term "Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits" xsd:string [Term] id: Orphanet:46658 name: Primordial short stature - microdontia - opalescent and rootless teeth xref: ICD10:Q87.1 xref: OMIM:210720 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:180766 ! Malformative syndrome with dentinogenesis imperfecta relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:467 name: Nonacquired combined pituitary hormone deficiency xref: ICD10:E23.0 is_a: Orphanet:95488 ! Nonacquired pituitary hormone deficiency relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 property_value: alternative:term "Congenital combined pituitary hormone deficiency" xsd:string property_value: alternative:term "Congenital hypopituitarism" xsd:string [Term] id: Orphanet:46724 name: Cerebral arteriovenous malformation xref: ICD10:Q28.2 xref: MESH:D002538 xref: OMIM:108010 xref: UMLS:C0007772 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102006 ! Neurovascular malformation relationship: part_of Orphanet:371436 ! Genetic neurovascular malformation relationship: part_of Orphanet:98731 ! Arteriovenous fistula property_value: alternative:term "Cerebral arteriovenous fistula" xsd:string property_value: alternative:term "Cerebral arteriovenous shunt" xsd:string property_value: alternative:term "Intracranial arteriovenous malformation" xsd:string [Term] id: Orphanet:469 name: Hereditary fructose intolerance xref: ICD10:E74.1 xref: MEDDRA:10019878 xref: MESH:D005633 xref: OMIM:229600 xref: SNOMED CT:20052008 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:104003 ! Congenital intestinal transport defect relationship: part_of Orphanet:308463 ! Disorder of fructose metabolism relationship: part_of Orphanet:309001 ! Disorder of carbohydrate absorption and transport relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease property_value: alternative:term "Hereditary fructose-1-phosphate aldolase deficiency" xsd:string property_value: alternative:term "Hereditary fructosemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary fructose intolerance is an autosomal recessive disorder due to a deficiency of fructose-1-phosphate aldolase activity, which results in an accumulation of fructose-1-phosphate in the liver, kidney, and small intestine, and is characterized by severe abdominal pain, vomiting, and hypoglycemia following ingestion of fructose or other sugars metabolised through fructose-1-phosphate." xsd:string [Term] id: Orphanet:47 name: X-linked agammaglobulinemia xref: ICD10:D80.0 xref: MEDDRA:10060360 xref: MESH:C537409 xref: OMIM:300310 xref: OMIM:300755 xref: SNOMED CT:65880007 xref: UMLS:C0221026 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:229717 ! Isolated agammaglobulinemia property_value: alternative:term "Bruton type agammaglobulinemia" xsd:string property_value: alternative:term "BTK-deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy." xsd:string [Term] id: Orphanet:470 name: Lysinuric protein intolerance xref: ICD10:E72.0 xref: MEDDRA:10058300 xref: OMIM:222700 xref: SNOMED CT:303852004 xref: UMLS:C0268647 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79166 ! Disorder of amino acid absorption and transport property_value: alternative:term "Hyperdibasic aminoaciduria type 2" xsd:string property_value: alternative:term "LPI" xsd:string [Term] id: Orphanet:47044 name: Familial papillary renal cell carcinoma xref: ICD10:C64 xref: MESH:C538614 xref: OMIM:605074 xref: UMLS:C2931899 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:151 ! Familial renal cell carcinoma relationship: part_of Orphanet:183595 ! Genetic renal tumor [Term] id: Orphanet:47045 name: Familial cold urticaria xref: ICD10:L50.2 xref: MEDDRA:10064570 xref: OMIM:120100 xref: SNOMED CT:238687000 xref: UMLS:C0343068 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:182734 ! Genetic urticaria relationship: part_of Orphanet:208650 ! Cryopyrin-associated periodic syndrome relationship: part_of Orphanet:79384 ! Rare urticaria property_value: alternative:term "Familial cold autoinflammatory syndrome" xsd:string property_value: alternative:term "FCAS" xsd:string property_value: alternative:term "FCAS1" xsd:string property_value: alternative:term "FCU" xsd:string [Term] id: Orphanet:47159 name: Proximal renal tubular acidosis xref: ICD10:N25.8 xref: OMIM:179830 xref: OMIM:604278 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:314822 ! Primary renal tubular acidosis property_value: alternative:term "pRTA" xsd:string property_value: alternative:term "Renal tubular acidosis type 2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Proximal renal tubular acidosis (pRTA) is a tubulointerstitial kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic acidosis." xsd:string [Term] id: Orphanet:472 name: Isosporiasis xref: ICD10:A07.3 xref: MEDDRA:10023076 xref: MESH:D021865 xref: SNOMED CT:371423007 xref: UMLS:C0311386 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163588 ! Rare parasitic disease [Term] id: Orphanet:474 name: Jeune syndrome xref: ICD10:Q77.2 xref: MESH:C537571 xref: OMIM:208500 xref: OMIM:611263 xref: OMIM:613091 xref: OMIM:613819 xref: OMIM:614376 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:1505 ! Short rib-polydactyly syndrome relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Asphyxiating thoracic dystrophy of the newborn" xsd:string property_value: alternative:term "JATD" xsd:string property_value: alternative:term "Jeune asphyxiating thoracic dystrophy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including \"trident\" aspect of the acetabula and metaphyseal changes." xsd:string [Term] id: Orphanet:475 name: Joubert syndrome xref: ICD10:Q04.3 xref: OMIM:213300 xref: OMIM:610688 xref: OMIM:612291 xref: OMIM:614173 xref: OMIM:614424 xref: OMIM:614464 xref: OMIM:614615 xref: OMIM:614970 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:140874 ! Joubert syndrome and related disorders relationship: part_of Orphanet:269560 ! Genetic cerebellar malformation relationship: part_of Orphanet:98514 ! Malformation of the cerebellar vermis property_value: alternative:term "Cerebelloparenchymal disorder IV" xsd:string property_value: alternative:term "Classic Joubert syndrome" xsd:string property_value: alternative:term "CPD IV" xsd:string property_value: alternative:term "Joubert syndrome type A" xsd:string property_value: alternative:term "Joubert-Boltshauser syndrome" xsd:string property_value: alternative:term "Pure Joubert syndrome" xsd:string [Term] id: Orphanet:47612 name: Felty syndrome xref: ICD10:M05.0 xref: MEDDRA:10016386 xref: MESH:D005258 xref: OMIM:134750 xref: SNOMED CT:57160007 xref: UMLS:C0015773 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:178996 ! Acquired neutropenia relationship: part_of Orphanet:182231 ! Rare rheumatologic disease property_value: alternative:term "Splenomegaly-neutropenia-rheumatoid arthritis syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA; see this term), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections." xsd:string [Term] id: Orphanet:477 name: KID syndrome xref: ICD10:Q80.8 xref: OMIM:148210 xref: OMIM:242150 xref: OMIM:602540 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:281244 ! Autosomal ichthyosis syndrome with other associated signs relationship: part_of Orphanet:307804 ! Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98352 ! Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature relationship: part_of Orphanet:98699 ! Syndromic ichthyosis associated with ocular features property_value: alternative:term "Keratitis - ichthyosis - deafness/Hystrix-like ichthyosis - deafness" xsd:string property_value: alternative:term "KID/HID syndrome" xsd:string property_value: alternative:term "Senter syndrome" xsd:string [Term] id: Orphanet:478 name: Kallmann syndrome xref: ICD10:E23.0 xref: MEDDRA:10053142 xref: MESH:D017436 xref: OMIM:147950 xref: OMIM:244200 xref: OMIM:308700 xref: OMIM:610628 xref: OMIM:612370 xref: OMIM:612702 xref: OMIM:614837 xref: OMIM:614838 xref: OMIM:614840 xref: OMIM:614858 xref: OMIM:614880 xref: OMIM:614897 xref: OMIM:615266 xref: OMIM:615267 xref: OMIM:615269 xref: OMIM:615270 xref: OMIM:615271 xref: SNOMED CT:93559003 xref: UMLS:C0162809 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:238666 ! Isolated congenital hypogonadotropic hypogonadism property_value: alternative:term "Congenital hypogonadotropic hypogonadism with anosmia" xsd:string property_value: alternative:term "Olfacto-genital pathological sequence" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs)." xsd:string [Term] id: Orphanet:48 name: Congenital bilateral absence of vas deferens xref: ICD10:Q55.4 xref: MEDDRA:10010670 xref: MESH:C535984 xref: OMIM:277180 xref: SNOMED CT:275416002 xref: UMLS:C0403814 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:156622 ! Genetic urogenital tract malformation relationship: part_of Orphanet:182121 ! Nonsyndromic urogenital tract malformation of male relationship: part_of Orphanet:275742 ! Genetic infertility relationship: part_of Orphanet:98048 ! Rare male infertility property_value: alternative:term "Congenital bilateral agenesis of vas deferens" xsd:string property_value: alternative:term "Congenital bilateral aplasia of vas deferens" xsd:string [Term] id: Orphanet:480 name: Kearns-Sayre syndrome xref: ICD10:H49.8 xref: MEDDRA:10048804 xref: MESH:D007625 xref: OMIM:530000 xref: SNOMED CT:25792000 xref: SNOMED CT:51464001 xref: SNOMED CT:77835008 xref: UMLS:C0022541 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:181402 ! Syndrome with hypoparathyroidism relationship: part_of Orphanet:206966 ! Mitochondrial myopathy relationship: part_of Orphanet:217613 ! Mitochondrial disease with dilated cardiomyopathy relationship: part_of Orphanet:225700 ! Mitochondrial disease with epilepsy relationship: part_of Orphanet:225703 ! Mitochondrial disease with peripheral neuropathy relationship: part_of Orphanet:254767 ! Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa relationship: part_of Orphanet:98683 ! Syndrome with a symptomatic strabismus relationship: part_of Orphanet:98695 ! Mitochondrial disease with eye involvement [Term] id: Orphanet:481 name: Kennedy disease xref: ICD10:G12.2 xref: MEDDRA:10068600 xref: OMIM:313200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:206707 ! Bulbospinal muscular atrophy of adult property_value: alternative:term "Bulbospinal muscular atrophy" xsd:string property_value: alternative:term "SBMA" xsd:string property_value: alternative:term "Spinal and bulbar muscular atrophy" xsd:string property_value: alternative:term "Spinobulbar muscular atrophy" xsd:string property_value: alternative:term "X-linked bulbospinal amyotrophy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting." xsd:string [Term] id: Orphanet:48104 name: Pyoderma gangrenosum xref: ICD10:L88 xref: MEDDRA:10037635 xref: MESH:D017511 xref: SNOMED CT:74578003 xref: UMLS:C0085652 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:324927 ! Pyogenic autoinflammatory syndrome relationship: part_of Orphanet:90077 ! Other acquired skin disease [Term] id: Orphanet:48162 name: Lewis-Sumner syndrome xref: ICD10:G61.8 xref: MEDDRA:10065580 xref: UMLS:C1695985 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:2932 ! Chronic inflammatory demyelinating polyneuropathy property_value: alternative:term "MADSAM" xsd:string property_value: alternative:term "Multifocal acquired demyelinating sensory and motor neuropathy" xsd:string [Term] id: Orphanet:482 name: Kimura disease xref: ICD10:D21 xref: ICD10:I89.8 xref: ICD10:L92.8 xref: MEDDRA:10048640 xref: MESH:D000796 xref: SNOMED CT:399894006 xref: UMLS:C0033838 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182222 ! Rare systemic disease property_value: alternative:term "Eosinophilic lymphogranuloma" xsd:string [Term] id: Orphanet:483 name: Congenital high-molecular-weight kininogen deficiency xref: ICD10:D68.8 xref: OMIM:228960 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:68334 ! Rare hemorrhagic disorder due to a constitutional coagulation factors defect [Term] id: Orphanet:48372 name: Nodular regenerative hyperplasia of the liver xref: ICD10:K76.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101939 ! Rare parenchymatous liver disease property_value: alternative:term "Non-cirrhotic nodulation" xsd:string [Term] id: Orphanet:48377 name: Subcorneal pustular dermatosis xref: ICD10:L13.1 xref: MEDDRA:10042342 xref: SNOMED CT:25147002 xref: UMLS:C0600336 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:90077 ! Other acquired skin disease property_value: alternative:term "Pustulosis subcornealis" xsd:string property_value: alternative:term "Sneddon-Wilkinson disease" xsd:string property_value: alternative:term "Subcorneal pustular dermatitis" xsd:string [Term] id: Orphanet:48431 name: Congenital cataracts - facial dysmorphism - neuropathy xref: ICD10:G60.8 xref: ICD10:Q13.8 xref: OMIM:604168 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:140459 ! Autosomal recessive hereditary demyelinating motor and sensory neuropathy relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:207028 ! Cerebellar ataxia with peripheral neuropathy relationship: part_of Orphanet:98098 ! Autosomal recessive degenerative and progressive cerebellar ataxia relationship: part_of Orphanet:98574 ! Syndromic epicanthus relationship: part_of Orphanet:98645 ! Cerebral disease with cataract property_value: alternative:term "CCFDN" xsd:string [Term] id: Orphanet:48435 name: Postinfectious vasculitis xref: ICD10:I77.6 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:52759 ! Vasculitis property_value: alternative:term "Viral vasculitis not related to HBV or HCV" xsd:string [Term] id: Orphanet:48471 name: Lissencephaly xref: ICD10:Q04.3 xref: MEDDRA:10048911 xref: MESH:D054082 xref: SNOMED CT:204036008 xref: UMLS:C0266463 is_a: Orphanet:102369 ! Rare intellectual deficit with developmental anomaly is_a: Orphanet:108991 ! Syndrome with a central nervous system malformation as major feature is_a: Orphanet:166478 ! Cerebral malformation with epilepsy is_a: Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly is_a: Orphanet:269564 ! Genetic syndrome with a central nervous system malformation as major feature [Term] id: Orphanet:485 name: Kniest dysplasia xref: ICD10:Q77.7 xref: MESH:C537207 xref: OMIM:156550 xref: SNOMED CT:53974002 xref: UMLS:C0265279 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:138041 ! Pierre Robin syndrome associated with collagen disease relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:93421 ! Type 2 collagen-related bone disorder [Term] id: Orphanet:486 name: Autosomal dominant severe congenital neutropenia xref: ICD10:D70 xref: OMIM:202700 xref: OMIM:257100 xref: OMIM:612541 xref: OMIM:613107 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:42738 ! Severe congenital neutropenia [Term] id: Orphanet:48652 name: Monosomy 22q13 xref: ICD10:Q93.5 xref: OMIM:606232 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:262182 ! Partial deletion of the long arm of chromosome 22 property_value: alternative:term "22q13 deletion" xsd:string property_value: alternative:term "Phelan-McDermid syndrome" xsd:string [Term] id: Orphanet:48686 name: Primary effusion lymphoma xref: ICD10:C83.8 xref: MEDDRA:10065857 xref: MESH:D054685 xref: SNOMED CT:128800006 xref: UMLS:C1292753 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102024 ! HHV-8 related disorders relationship: part_of Orphanet:289644 ! Epstein-Barr virus-associated malignant lymphoproliferative disorder relationship: part_of Orphanet:300846 ! Aggressive B-cell non-Hodgkin lymphoma property_value: alternative:term "Body cavity-based lymphoma" xsd:string property_value: alternative:term "PEL" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8)." xsd:string [Term] id: Orphanet:487 name: Krabbe disease xref: ICD10:E75.2 xref: MEDDRA:10023492 xref: OMIM:245200 xref: OMIM:611722 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:371442 ! Sphingolipidosis with epilepsy relationship: part_of Orphanet:68356 ! Leukodystrophy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79225 ! Sphingolipidosis relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy property_value: alternative:term "Galactocerebrosidase deficiency" xsd:string property_value: alternative:term "Galactosylceramidase deficiency" xsd:string property_value: alternative:term "GALC deficiency" xsd:string property_value: alternative:term "Globoid cell leukodystrophy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms." xsd:string [Term] id: Orphanet:48736 name: Intracranial embryonal carcinoma is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:180226 ! Embryonal carcinoma relationship: part_of Orphanet:251995 ! Primary germ cell tumor of the central nervous system [Term] id: Orphanet:488 name: Urachal cyst xref: ICD10:Q64.4 xref: MEDDRA:10065375 xref: MESH:D014496 xref: SNOMED CT:17234001 xref: UMLS:C0041915 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:182124 ! Nonsyndromic urogenital tract malformation of male and female relationship: part_of Orphanet:357506 ! Genetic nonsyndromic renal or urinary tract malformation relationship: part_of Orphanet:93546 ! Nonsyndromic renal or urinary tract malformation [Term] id: Orphanet:48818 name: Aceruloplasminemia xref: ICD10:G23.0 xref: OMIM:604290 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:309842 ! Disorder of iron metabolism and transport relationship: part_of Orphanet:385 ! Neurodegeneration with brain iron accumulation relationship: part_of Orphanet:71862 ! Retinal dystrophy relationship: part_of Orphanet:98360 ! Constitutional anemia due to iron metabolism disorder relationship: part_of Orphanet:98713 ! Metabolic disease with pigmentary retinitis property_value: alternative:term "Hereditary ceruloplasmin deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." xsd:string [Term] id: Orphanet:48918 name: Focal myositis xref: ICD10:M60.8 xref: OMIM:160750 xref: UMLS:C0751357 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98482 ! Idiopathic inflammatory myopathy property_value: alternative:term "Focal nodular myositis" xsd:string property_value: alternative:term "Inflammatory pseudotumor of skeletal muscle" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities." xsd:string [Term] id: Orphanet:49 name: Penile agenesis xref: ICD10:Q55.5 xref: MESH:C536649 xref: UMLS:C1387005 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182121 ! Nonsyndromic urogenital tract malformation of male relationship: part_of Orphanet:98085 ! 46,XY disorder of sex development property_value: alternative:term "Aphallia" xsd:string property_value: alternative:term "Penis agenesis" xsd:string [Term] id: Orphanet:490 name: Omphalomesenteric cyst xref: ICD10:Q43.0 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:108977 ! Nonsyndromic diaphragmatic or abdominal wall malformation [Term] id: Orphanet:49041 name: Retroperitoneal fibrosis xref: ICD10:M72.8 xref: MEDDRA:10038979 xref: MESH:D012185 xref: OMIM:228800 xref: SNOMED CT:197808006 xref: SNOMED CT:49120005 xref: UMLS:C0035357 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:165711 ! Rare abdominal surgical disease property_value: alternative:term "Ormond disease" xsd:string [Term] id: Orphanet:49042 name: Dentinogenesis imperfecta xref: ICD10:K00.5 xref: MEDDRA:10054013 xref: MESH:D003811 xref: SNOMED CT:196286005 xref: UMLS:C0011436 is_a: Orphanet:167759 ! Hereditary dentin defect relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 property_value: alternative:term "Dentinogenesis imperfecta without osteogenesis imperfecta" xsd:string property_value: alternative:term "DGI" xsd:string property_value: alternative:term "DGI without OI" xsd:string property_value: alternative:term "DI" xsd:string property_value: alternative:term "Non-syndromic dentinogenesis imperfecta" xsd:string property_value: alternative:term "Non-syndromic DGI" xsd:string property_value: alternative:term "Opalescent teeth without OI" xsd:string property_value: alternative:term "Opalescent teeth without osteogenesis imperfecta" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dentinogenesis imperfecta (DGI) is a hereditary dentin defect (see this term) characterized by abnormal dentin structure resulting in abnormal tooth development." xsd:string [Term] id: Orphanet:492 name: Proliferating trichilemmal cyst xref: ICD10:L72.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Proliferating trichilemmal tumor is a rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues." xsd:string [Term] id: Orphanet:493 name: Familial keratoacanthoma xref: ICD10:L85.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma relationship: part_of Orphanet:98580 ! Palpebral tumor relationship: part_of Orphanet:98582 ! Benign tumor of palpebral epidermis property_value: alternative:term "Hereditary keratoacanthoma" xsd:string property_value: alternative:term "Multiple keratoacanthoma" xsd:string [Term] id: Orphanet:49382 name: Achromatopsia xref: ICD10:H53.5 xref: MEDDRA:10000454 xref: OMIM:216900 xref: OMIM:262300 xref: OMIM:610024 xref: OMIM:613093 xref: OMIM:613856 xref: SNOMED CT:56852002 xref: UMLS:C0152200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98620 ! Syndromic myopia relationship: part_of Orphanet:98658 ! Color-vision disease property_value: alternative:term "ACHM" xsd:string property_value: alternative:term "Complete or incomplete color blindness" xsd:string property_value: alternative:term "Pingelapese blindness" xsd:string property_value: alternative:term "Rod monochromacy" xsd:string property_value: alternative:term "Rod monochromatism" xsd:string property_value: alternative:term "Total color blindness" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function." xsd:string [Term] id: Orphanet:494 name: Keratoderma hereditarium mutilans xref: ICD10:Q82.8 xref: OMIM:124500 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:307773 ! Autosomal dominant diffuse mutilating palmoplantar keratoderma relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Mutilating keratoderma of Vohwinkel" xsd:string property_value: alternative:term "Mutilating keratoderma plus deafness" xsd:string property_value: alternative:term "PPK mutilans and deafness" xsd:string property_value: alternative:term "Vohwinkel syndrome" xsd:string [Term] id: Orphanet:495 name: Transgrediens et progrediens palmoplantar keratoderma xref: ICD10:Q82.8 xref: OMIM:133200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:98349 ! Autosomal dominant isolated diffuse palmoplantar keratoderma property_value: alternative:term "Greither disease" xsd:string property_value: alternative:term "Keratosis extremitatum hereditaria progrediens" xsd:string property_value: alternative:term "Keratosis palmoplantaris transgrediens et progrediens" xsd:string property_value: alternative:term "Progressive diffuse palmoplantar keratoderma" xsd:string property_value: alternative:term "Progressive diffuse PPK" xsd:string property_value: alternative:term "Transgrediens et progrediens PPK" xsd:string [Term] id: Orphanet:49566 name: Purpura fulminans xref: ICD10:D65 xref: MEDDRA:10037556 xref: MESH:D014884 xref: MESH:D055665 xref: SNOMED CT:13507004 xref: UMLS:C0043068 xref: UMLS:C0085650 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:248365 ! Rare thrombotic disorder due to an acquired coagulation factors defect [Term] id: Orphanet:496 name: Thost-Unna palmoplantar keratoderma is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_2199 with label: Epidermolytic palmoplantar keratoderma" xsd:string [Term] id: Orphanet:498 name: Keratosis pilaris atrophicans xref: ICD10:L85.8 xref: SNOMED CT:400059005 is_a: Orphanet:79359 ! Other epidermis disorder is_a: Orphanet:79360 ! Other genetic epidermal disease [Term] id: Orphanet:49804 name: Lichen amyloidosis xref: ICD10:E85+ xref: ICD10:L99.0* is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:137807 ! Primary cutaneous amyloidosis property_value: alternative:term "Amyloid lichen" xsd:string property_value: alternative:term "Lichen amyloidosus" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis (see this term), a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis." xsd:string [Term] id: Orphanet:49827 name: Thiamine-responsive megaloblastic anemia syndrome xref: ICD10:D53.1 xref: MESH:C536510 xref: OMIM:249270 xref: SNOMED CT:237617006 xref: UMLS:C0342287 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181381 ! Other rare diabetes mellitus relationship: part_of Orphanet:183625 ! Rare genetic diabetes mellitus relationship: part_of Orphanet:298644 ! Disorder of thiamin metabolism and transport relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98362 ! Constitutional sideroblastic anemia relationship: part_of Orphanet:98415 ! Vitamin B12- and folate-independent constitutional megaloblastic anemia property_value: alternative:term "Rogers syndrome" xsd:string property_value: alternative:term "Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness" xsd:string property_value: alternative:term "TRMA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness." xsd:string [Term] id: Orphanet:499 name: Kerion celsi xref: ICD10:B35.0 xref: MESH:C536165 xref: UMLS:C0276742 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:90077 ! Other acquired skin disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy." xsd:string [Term] id: Orphanet:5 name: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency xref: ICD10:E71.3 xref: ICD10:G60 xref: OMIM:609016 xref: SNOMED CT:237999008 xref: UMLS:C0342786 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:181402 ! Syndrome with hypoparathyroidism relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:217591 ! Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy relationship: part_of Orphanet:309127 ! 3-hydroxyacyl-CoA dehydrogenase deficiency relationship: part_of Orphanet:98713 ! Metabolic disease with pigmentary retinitis property_value: alternative:term "LCHAD deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy." xsd:string [Term] id: Orphanet:50 name: Aicardi syndrome xref: ICD10:Q04.0 xref: MEDDRA:10054935 xref: MESH:D058540 xref: OMIM:304050 xref: SNOMED CT:80651009 xref: UMLS:C0175713 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:166478 ! Cerebral malformation with epilepsy relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:199639 ! Syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:269573 ! Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit relationship: part_of Orphanet:98692 ! Nervous system anomaly with eye involvement property_value: alternative:term "Corpus callosum agenesis of with chorioretinal abnormality" xsd:string [Term] id: Orphanet:500 name: LEOPARD syndrome xref: ICD10:Q87.8 xref: MEDDRA:10062901 xref: MESH:C537116 xref: MESH:D044542 xref: OMIM:151100 xref: OMIM:611554 xref: OMIM:613707 xref: SNOMED CT:111306001 xref: SNOMED CT:403537000 xref: UMLS:C0175704 xref: UMLS:C2931424 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis relationship: part_of Orphanet:98587 ! Palpebral lentiginosis relationship: part_of Orphanet:98733 ! Noonan syndrome and Noonan-related syndrome property_value: alternative:term "Cardiomyopathic lentiginosis" xsd:string property_value: alternative:term "Familial multiple lentigines syndrome" xsd:string [Term] id: Orphanet:501 name: Lafora disease xref: ICD10:G40.3 xref: MEDDRA:10054030 xref: MESH:D020192 xref: OMIM:254780 xref: SNOMED CT:230425004 xref: UMLS:C0751783 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:306762 ! Progressive epilepsy and/or ataxia with myoclonus as a major feature relationship: part_of Orphanet:98261 ! Progressive myoclonic epilepsy property_value: alternative:term "Progressive myoclonic epilepsy type 2" xsd:string [Term] id: Orphanet:502 name: Langer-Giedion syndrome xref: ICD10:Q87.8 xref: MEDDRA:10050638 xref: MESH:C536555 xref: MESH:D015826 xref: OMIM:150230 xref: SNOMED CT:41069008 xref: UMLS:C0023003 xref: UMLS:C2931237 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:262065 ! Partial deletion of the long arm of chromosome 8 relationship: part_of Orphanet:324764 ! Trichorhinophalangeal syndrome property_value: alternative:term "Deletion 8q24.1" xsd:string property_value: alternative:term "Monosomy 8q24.1" xsd:string property_value: alternative:term "Trichorhinophalangeal syndrome type 2" xsd:string [Term] id: Orphanet:50251 name: Mesothelioma xref: ICD10:C45 xref: MEDDRA:10027406 xref: MESH:D008654 xref: OMIM:156240 xref: SNOMED CT:62064005 xref: UMLS:C0025500 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:101945 ! Rare bronchopulmonary tumor [Term] id: Orphanet:503 name: Autosomal dominant Larsen syndrome xref: ICD10:Q68.8 xref: OMIM:150250 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:139030 ! Malformation syndrome with connective tissue involvement relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:93425 ! Filamin-related bone disorder relationship: part_of Orphanet:93441 ! Primary bone dysplasia with multiple joint dislocations property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate." xsd:string [Term] id: Orphanet:504 name: Creeping myiasis xref: ICD10:B87.0 xref: MEDDRA:10059547 xref: MESH:D007815 xref: SNOMED CT:19362000 xref: SNOMED CT:240854000 xref: SNOMED CT:278041003 xref: SNOMED CT:417441005 xref: UMLS:C0546999 xref: UMLS:C1562462 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:165961 ! Subcutaneous myiasis property_value: alternative:term "Cutaneous larva migrans" xsd:string property_value: alternative:term "Migratory myiasis" xsd:string [Term] id: Orphanet:505 name: Graham Little-Piccardi-Lassueur syndrome xref: ICD10:L66.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:525 ! Lichen planopilaris relationship: part_of Orphanet:79364 ! Alopecia property_value: alternative:term "Graham Little syndrome" xsd:string property_value: alternative:term "Piccardi-Lassueur-Little syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris (see this term) characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin." xsd:string [Term] id: Orphanet:506 name: Leigh syndrome xref: ICD10:G31.8 xref: MEDDRA:10062950 xref: MESH:D007888 xref: OMIM:220111 xref: OMIM:256000 xref: OMIM:308930 xref: SNOMED CT:29570005 xref: UMLS:C0023264 xref: UMLS:C0751267 is_a: Orphanet:225703 ! Mitochondrial disease with peripheral neuropathy is_a: Orphanet:2443 ! Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is_a: Orphanet:68385 ! Neurometabolic disease is_a: Orphanet:98666 ! Unclassified primitive or secondary maculopathy is_a: Orphanet:98683 ! Syndrome with a symptomatic strabismus is_a: Orphanet:98687 ! Supranuclear oculomotor palsy is_a: Orphanet:98695 ! Mitochondrial disease with eye involvement relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Infantile subacute necrotizing encephalopathy" xsd:string property_value: alternative:term "Leigh disease" xsd:string [Term] id: Orphanet:507 name: Leishmaniasis xref: ICD10:B55 xref: MEDDRA:10024198 xref: MESH:D007896 xref: OMIM:608207 xref: SNOMED CT:80612004 xref: UMLS:C0023281 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:163588 ! Rare parasitic disease [Term] id: Orphanet:508 name: Leprechaunism xref: ICD10:E34.8 xref: OMIM:246200 xref: SNOMED CT:111307005 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139033 ! Progeroid syndrome relationship: part_of Orphanet:181368 ! Insulin-resistance syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:363245 ! Genetic progeroid syndrome relationship: part_of Orphanet:79365 ! Hypertrichosis property_value: alternative:term "Donohue syndrome" xsd:string [Term] id: Orphanet:50809 name: Talo-patello-scaphoid osteolysis xref: OMIM:609655 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93449 ! Primary osteolysis property_value: alternative:term "Singh-Williams-McAlister syndrome" xsd:string [Term] id: Orphanet:50810 name: Microlissencephaly - micromelia xref: ICD10:Q04.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:166478 ! Cerebral malformation with epilepsy relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Basel-Vanagaite-Sirota syndrome" xsd:string [Term] id: Orphanet:50811 name: Lipodystrophy - intellectual deficit - deafness xref: ICD10:Q78.8 xref: OMIM:608154 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139033 ! Progeroid syndrome relationship: part_of Orphanet:363245 ! Genetic progeroid syndrome relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:93447 ! Primary bone dysplasia with defective bone mineralization relationship: part_of Orphanet:98305 ! Genetic lipodystrophy property_value: alternative:term "Rajab-Spranger syndrome" xsd:string [Term] id: Orphanet:50812 name: Zellweger-like syndrome without peroxisomal anomalies xref: ICD10:Q87.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182073 ! Syndromic neurometabolic disease with non-X-linked intellectual deficit relationship: part_of Orphanet:254822 ! Mitochondrial oxidative phosphorylation disorder with no known mechanism property_value: alternative:term "Ahn-Lerman-Sagie syndrome" xsd:string [Term] id: Orphanet:50814 name: Craniolenticulosutural dysplasia xref: ICD10:Q75.8 xref: OMIM:607812 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Boyadjiev-Jabs syndrome" xsd:string [Term] id: Orphanet:50815 name: Branchiogenic deafness syndrome xref: ICD10:Q87.8 xref: OMIM:609166 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Mégarbané-Loiselet syndrome" xsd:string [Term] id: Orphanet:50816 name: Spondylometaphyseal dysplasia with combined immunodeficiency is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_1855 with label: Spondyloenchondrodysplasia" xsd:string [Term] id: Orphanet:50839 name: Cat-scratch disease xref: ICD10:A28.1 xref: MEDDRA:10007729 xref: MESH:D002372 xref: SNOMED CT:79974007 xref: UMLS:C0007361 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease property_value: alternative:term "Bartonellosis due to Bartonella henselae infection" xsd:string [Term] id: Orphanet:509 name: Leptospirosis xref: ICD10:A27.0 xref: ICD10:A27.8 xref: ICD10:A27.9 xref: MEDDRA:10024238 xref: MESH:D007922 xref: SNOMED CT:77377001 xref: UMLS:C0023364 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease [Term] id: Orphanet:50918 name: Kikuchi-Fujimoto disease xref: ICD10:I88.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182222 ! Rare systemic disease property_value: alternative:term "Histiocytic necrotizing lymphadenitis" xsd:string property_value: alternative:term "Kikuchi disease" xsd:string [Term] id: Orphanet:50920 name: Mammary polyadenomatosis xref: ICD10:D24 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:180253 ! Rare benign breast tumor [Term] id: Orphanet:50942 name: Keratosis palmoplantaris striata xref: ICD10:Q82.8 xref: OMIM:148700 xref: OMIM:607654 xref: OMIM:612908 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:307846 ! Isolated focal palmoplantar keratoderma property_value: alternative:term "Keratosis palmoplantaris striata et areata" xsd:string property_value: alternative:term "Keratosis palmoplantaris varians of Wachters" xsd:string property_value: alternative:term "Striate palmoplantar keratoderma" xsd:string [Term] id: Orphanet:50943 name: Keratolytic winter erythema xref: MESH:C536155 xref: OMIM:148370 xref: SNOMED CT:239064000 xref: UMLS:C0406756 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:79359 ! Other epidermis disorder relationship: part_of Orphanet:79360 ! Other genetic epidermal disease property_value: alternative:term "Erythrokeratolysis hiemalis" xsd:string property_value: alternative:term "Oudtshoorn disease" xsd:string [Term] id: Orphanet:50944 name: Schöpf-Schulz-Passarge syndrome xref: ICD10:Q82.8 xref: OMIM:224750 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:307804 ! Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Eccrine tumors-ectodermal dysplasia" xsd:string property_value: alternative:term "Keratosis palmoplantaris - cystic eyelids - hypodontia - hypotrichosis" xsd:string property_value: alternative:term "Palmoplantar hyperkeratosis - cystic eyelids - hypodontia - hypotrichosis" xsd:string property_value: alternative:term "Palmoplantar keratoderma - cystic eyelids - hypodontia - hypotrichosis" xsd:string property_value: alternative:term "SSPS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy." xsd:string [Term] id: Orphanet:50945 name: Chondrodysplasia, Blomstrand type xref: ICD10:Q78.8 xref: MESH:C537914 xref: OMIM:215045 xref: UMLS:C1859148 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93443 ! Neonatal osteosclerotic dysplasia property_value: alternative:term "BLC" xsd:string property_value: alternative:term "Blomstrand lethal chondrodysplasia" xsd:string [Term] id: Orphanet:51 name: Aicardi-Goutières syndrome xref: ICD10:G31.8 xref: MESH:C535607 xref: OMIM:114100 xref: OMIM:225750 xref: OMIM:610181 xref: OMIM:610329 xref: OMIM:610333 xref: OMIM:612952 xref: OMIM:615010 xref: SNOMED CT:230312006 xref: UMLS:C0393591 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:68356 ! Leukodystrophy property_value: alternative:term "Encephalopathy with basal ganglia calcification" xsd:string property_value: alternative:term "Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid" xsd:string [Term] id: Orphanet:510 name: Lesch-Nyhan syndrome xref: ICD10:E79.1 xref: MEDDRA:10057589 xref: MESH:D007926 xref: OMIM:300322 xref: OMIM:308950 xref: SNOMED CT:10406007 xref: UMLS:C0023374 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:206428 ! Hypoxanthine-guanine phosphoribosyltransferase deficiency property_value: alternative:term "HPRT complete deficiency" xsd:string property_value: alternative:term "HPRT deficiency grade IV" xsd:string property_value: alternative:term "Hypoxanthine guanine phosphoribosyltransferase complete deficiency" xsd:string property_value: alternative:term "Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems." xsd:string [Term] id: Orphanet:51013 name: Melanoma-pancreatic cancer syndrome xref: OMIM:606719 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:180824 ! Pancreatic tumor [Term] id: Orphanet:51083 name: Familial short QT syndrome xref: OMIM:609620 xref: OMIM:609621 xref: OMIM:609622 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease property_value: alternative:term "SQTS" xsd:string [Term] id: Orphanet:51084 name: Torsade-de-pointes syndrome with short coupling interval xref: OMIM:613600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease [Term] id: Orphanet:511 name: Maple syrup urine disease xref: ICD10:E71.0 xref: MEDDRA:10026817 xref: MESH:D008375 xref: OMIM:248600 xref: OMIM:615135 xref: SNOMED CT:190700007 xref: SNOMED CT:24013007 xref: SNOMED CT:27718001 xref: UMLS:C0024776 xref: UMLS:C0268576 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79197 ! Disorder of branched-chain amino acid metabolism property_value: alternative:term "BCKD deficiency" xsd:string property_value: alternative:term "BCKDH deficiency" xsd:string property_value: alternative:term "Branched-chain ketoacid dehydrogenase deficiency" xsd:string property_value: alternative:term "Branched-chain ketoaciduria" xsd:string property_value: alternative:term "Leucinosis" xsd:string property_value: alternative:term "MSUD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Maple syrup urine disease (MSUD) is a disorder of branched-chain amino acids metabolism. Four forms are described. The early onset classic form manifests after birth by lethargy, poor feeding and neurological signs of intoxication. Clinical course without treatment is characterized by deepening coma with maple syrup odor of urine. Subacute MSUD manifests later with encephalopathy, mental disability, major hypotonia, opisthotonus and cerebral atrophy with severe outcome. The intermittent form of MSUD may manifest at any age and presents with repeated ketoacidotic coma. Thiamine-responsive MSUD is a very rare form characterized by improvement of the biochemical profile with thiamine therapy." xsd:string [Term] id: Orphanet:51188 name: Ethylmalonic encephalopathy xref: ICD10:G31.8 xref: MESH:C535737 xref: OMIM:602473 xref: UMLS:C1865349 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254837 ! Unspecified mitochondrial disorder [Term] id: Orphanet:512 name: Metachromatic leukodystrophy xref: ICD10:E75.2 xref: MEDDRA:10067609 xref: MESH:C538597 xref: MESH:D007966 xref: OMIM:156310 xref: OMIM:249900 xref: OMIM:250100 xref: SNOMED CT:238031009 xref: SNOMED CT:396338004 xref: UMLS:C0023522 xref: UMLS:C2713319 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:371442 ! Sphingolipidosis with epilepsy relationship: part_of Orphanet:68356 ! Leukodystrophy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79225 ! Sphingolipidosis relationship: part_of Orphanet:98543 ! Metabolic disease with dementia relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy property_value: alternative:term "Arylsulfatase A deficiency" xsd:string property_value: alternative:term "MLD" xsd:string [Term] id: Orphanet:51208 name: Formiminoglutamic aciduria xref: ICD10:D52.8 xref: OMIM:229100 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:285657 ! Disorder of folate metabolism and transport relationship: part_of Orphanet:98408 ! Constitutional megaloblastic anemia due to folate metabolism disorder property_value: alternative:term "Formiminotransferase cyclodeaminase deficiency" xsd:string property_value: alternative:term "FTCD deficiency" xsd:string property_value: alternative:term "Glutamate formiminotransferase deficiency" xsd:string [Term] id: Orphanet:513 name: Acute lymphoblastic leukemia xref: ICD10:C91.0 xref: OMIM:247640 xref: OMIM:613065 xref: OMIM:613067 is_a: Orphanet:547 ! Non-Hodgkin lymphoma relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "Acute lymphoblastic leukemia/lymphoma" xsd:string property_value: alternative:term "Acute lymphocytic leukemia" xsd:string property_value: alternative:term "ALL" xsd:string [Term] id: Orphanet:514 name: Acute monoblastic leukemia xref: ICD10:C92.7 xref: MESH:D007948 xref: SNOMED CT:277601005 xref: SNOMED CT:278170009 xref: SNOMED CT:413441006 xref: UMLS:C0457334 xref: UMLS:C1318544 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:167714 ! Unclassified acute myeloid leukemia property_value: alternative:term "Acute monocytic leukemia" xsd:string property_value: alternative:term "Acute myeloblastic leukemia type 5" xsd:string property_value: alternative:term "AML-M5" xsd:string [Term] id: Orphanet:51577 name: Cobblestone lissencephaly xref: ICD10:Q04.3 xref: SNOMED CT:253149002 is_a: Orphanet:48471 ! Lissencephaly property_value: alternative:term "Lissencephaly type 2" xsd:string [Term] id: Orphanet:51608 name: Generalized arterial calcification of infancy xref: ICD10:Q28.8 xref: MESH:C537440 xref: OMIM:208000 xref: OMIM:614473 xref: SNOMED CT:68926002 xref: UMLS:C0264955 xref: UMLS:C1859727 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:233655 ! Rare genetic vascular disease relationship: part_of Orphanet:68362 ! Rare vascular disease property_value: alternative:term "Idiopathic infantile arterial calcification" xsd:string property_value: alternative:term "Idiopathic obliterative arteriopathy" xsd:string property_value: alternative:term "Infantile arteriosclerosis" xsd:string property_value: alternative:term "Occlusive infantile arteriopathy" xsd:string [Term] id: Orphanet:51636 name: WHIM syndrome xref: ICD10:D81.8 xref: MESH:C536697 xref: OMIM:193670 xref: SNOMED CT:234571003 xref: UMLS:C0472817 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:331184 ! Constitutional neutropenia with extra-haematopoietic manifestations relationship: part_of Orphanet:331193 ! Other immunodeficiency syndromes due to defects in innate immunity property_value: alternative:term "Warts-hypogammaglobulinemia-infections-myelokathexis" xsd:string [Term] id: Orphanet:517 name: Acute myelomonocytic leukemia xref: ICD10:C92.5 xref: MEDDRA:10000890 xref: MESH:D015479 xref: SNOMED CT:30962008 xref: UMLS:C0023479 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:167714 ! Unclassified acute myeloid leukemia [Term] id: Orphanet:518 name: Acute megakaryoblastic leukemia xref: ICD10:C94.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:167714 ! Unclassified acute myeloid leukemia property_value: alternative:term "Acute myeloblastic leukemia type 7" xsd:string property_value: alternative:term "AMKL" xsd:string [Term] id: Orphanet:51890 name: Komar syndrome xref: ICD10:G58.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98006 ! Rare neurologic disease property_value: alternative:term "Intercostal nerve syndrome" xsd:string property_value: alternative:term "Rectus abdominis syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The rectus abdominis syndrome (also called intercostal nerve syndrome or KÛm·r syndrome) consists of acute or chronic pain in the abdominal wall due to entrapment of the segmental abdominal nerves in the rectus abdominis muscle. This rare syndrome tends to occur in patients whose abdominal muscles have been under unusual stress, e.g., heavy physical labor or pregnancy." xsd:string [Term] id: Orphanet:519 name: Acute myeloid leukemia xref: ICD10:C92.0 xref: MEDDRA:10000880 xref: MESH:D015470 xref: OMIM:601626 xref: SNOMED CT:103691009 xref: SNOMED CT:17788007 xref: SNOMED CT:359648001 xref: SNOMED CT:413443009 xref: SNOMED CT:91861009 xref: UMLS:C0023467 xref: UMLS:C1879321 is_a: Orphanet:171895 ! Myeloid hemopathy relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "Acute myelogenous leukemia" xsd:string property_value: alternative:term "Acute non-lymphoblastic leukemia" xsd:string property_value: alternative:term "AML" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acute myeloid leukemia (AML) is characterized by clonal expansion of myeloid blasts in the peripheral blood and bone marrow. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections." xsd:string [Term] id: Orphanet:52 name: Alagille syndrome xref: ICD10:Q44.7 xref: MEDDRA:10053870 xref: MESH:D016738 xref: OMIM:118450 xref: OMIM:610205 xref: SNOMED CT:31742004 xref: UMLS:C0085280 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101941 ! Rare biliary tract disease relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108973 ! Syndromic visceral malformation relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:156532 ! Rare syndrome with cardiac malformations relationship: part_of Orphanet:156607 ! Genetic biliary tract disease relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature property_value: alternative:term "Alagille-Watson syndrome" xsd:string property_value: alternative:term "Arteriohepatic dysplasia" xsd:string property_value: alternative:term "Syndromic bile duct paucity" xsd:string [Term] id: Orphanet:520 name: Acute promyelocytic leukemia xref: ICD10:C92.4 xref: MEDDRA:10001019 xref: MESH:D015473 xref: OMIM:612376 xref: SNOMED CT:28950004 xref: UMLS:C0023487 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98277 ! Acute myeloid leukemia with recurrent genetic anomaly property_value: alternative:term "Acute myeloblastic leukemia type 3" xsd:string property_value: alternative:term "Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants" xsd:string [Term] id: Orphanet:52022 name: Potocki-Shaffer syndrome xref: ICD10:Q93.5 xref: MESH:C538356 xref: OMIM:601224 xref: UMLS:C1832588 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:261947 ! Partial deletion of the short arm of chromosome 11 relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "11p11.2 deletion" xsd:string property_value: alternative:term "Proximal 11p deletion syndrome" xsd:string [Term] id: Orphanet:52047 name: Braddock syndrome xref: ICD10:Q87.8 xref: OMIM:608406 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:275853 ! Syndrome with pulmonary hypertension as a major feature relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect." xsd:string [Term] id: Orphanet:52054 name: Craniosynostosis - intracranial calcifications xref: ICD10:Q87.0 xref: OMIM:608432 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis property_value: alternative:term "Longman-Tolmie syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Craniosynostosis - intracranial calcifications is a rare syndromic craniosynostosis with unknown etiology characterized by variable degrees of craniosynostosis and basal ganglia calcifications with the inconsistent association of mild dysmorphic facies with prominent eyes and nasal bridge. Intelligence is not affected. Craniosynostosis - intracranial calcifications appears to be transmitted in an autosomal recessive manner." xsd:string [Term] id: Orphanet:52055 name: Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia xref: ICD10:Q87.8 xref: OMIM:300472 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:199639 ! Syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:269573 ! Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit relationship: part_of Orphanet:98558 ! Rare eye disease due to a differentiation anomaly property_value: alternative:term "Graham-Cox syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism, intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature." xsd:string [Term] id: Orphanet:52056 name: Ulnar/fibula ray defect - brachydactyly xref: ICD10:Q73.8 xref: OMIM:608571 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: alternative:term "Morava-Mehes syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Ulnar/fibula ray defect - brachydactyly is a very rare malformation syndrome with bracydactyly and combined reduction of upper and lower limbs and is characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism." xsd:string [Term] id: Orphanet:521 name: Chronic myeloid leukemia xref: ICD10:C92.1 xref: MEDDRA:10009013 xref: OMIM:608232 xref: SNOMED CT:63364005 xref: SNOMED CT:92818009 xref: UMLS:C0023473 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98274 ! Myeloproliferative neoplasm property_value: alternative:term "Chronic granulocytic leukemia" xsd:string property_value: alternative:term "Chronic myelogenous leukemia" xsd:string [Term] id: Orphanet:52183 name: Premature chromosome condensation with microcephaly and intellectual deficit xref: OMIM:251200 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:523 name: Familial leiomyomatosis xref: ICD10:D23 xref: OMIM:150800 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:319328 ! Inherited renal cell cancer-predisposing syndrome relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma property_value: alternative:term "Familial leiomyomatosis with renal carcinoma" xsd:string property_value: alternative:term "Familial leiomyomatosis with renal cell cancer" xsd:string property_value: alternative:term "Familial multiple cutaneous leiomyomas" xsd:string property_value: alternative:term "Hereditary leiomyomatosis" xsd:string property_value: alternative:term "Hereditary leiomyomatosis with renal carcinoma" xsd:string property_value: alternative:term "Hereditary leiomyomatosis with renal cell cancer" xsd:string property_value: alternative:term "Hereditary multiple cutaneous leiomyomas" xsd:string property_value: alternative:term "HLRCC" xsd:string property_value: alternative:term "Multiple cutaneous and uterine leiomyomas" xsd:string [Term] id: Orphanet:52368 name: Mohr-Tranebjaerg syndrome xref: ICD10:G31.8 xref: MESH:C535808 xref: OMIM:304700 xref: UMLS:C0796074 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:254834 ! Mitochondrial protein import disorder relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit relationship: part_of Orphanet:98678 ! X-linked recessive optic atrophy relationship: part_of Orphanet:98695 ! Mitochondrial disease with eye involvement property_value: alternative:term "DDON syndrome" xsd:string property_value: alternative:term "Deafness - dystonia - optic neuronopathy syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards." xsd:string [Term] id: Orphanet:524 name: Li-Fraumeni syndrome xref: ICD10:D48.9 xref: MEDDRA:10066795 xref: MESH:D016864 xref: OMIM:151623 xref: OMIM:609265 xref: OMIM:609266 xref: SNOMED CT:428850001 xref: UMLS:C0085390 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:252190 ! Inherited nervous system cancer-predisposing syndrome relationship: part_of Orphanet:314749 ! Rare disease with Cushing syndrome as a major feature property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC). The two forms are classic LFS and Li-Fraumeni-like (LFL) syndrome." xsd:string [Term] id: Orphanet:52416 name: Mantle cell lymphoma xref: ICD10:C83.1 xref: MEDDRA:10061275 xref: MESH:D020522 xref: SNOMED CT:443487006 xref: SNOMED CT:74654000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:300846 ! Aggressive B-cell non-Hodgkin lymphoma property_value: alternative:term "LCM" xsd:string property_value: alternative:term "Mantle zone lymphoma" xsd:string property_value: alternative:term "MCL" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''." xsd:string [Term] id: Orphanet:52417 name: MALT lymphoma xref: ICD10:C88.4 xref: MEDDRA:10060707 xref: OMIM:137245 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:300912 ! Marginal zone lymphoma property_value: alternative:term "Extranodal marginal zone B-cell lymphoma" xsd:string property_value: alternative:term "MALToma" xsd:string property_value: alternative:term "Mucosa-associated lymphatic tissue lymphoma" xsd:string property_value: alternative:term "Mucosa-associated lymphoid tissue lymphoma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "MALT (mucosa-associated lymphoid tissue) lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) that affects B cells and grows at the expense of lymphoid tissue associated with mucous membranes, but also occurs, more rarely, in lymph nodes." xsd:string [Term] id: Orphanet:52427 name: Retinitis punctata albescens xref: ICD10:H35.5 xref: OMIM:136880 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:227786 ! Familial flecked retinopathy [Term] id: Orphanet:52428 name: Congenital muscular dystrophy type 1C is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_370953 with label: Congenital muscular dystrophy due to dystroglycanopathy" xsd:string [Term] id: Orphanet:52429 name: Branchio-otic syndrome xref: ICD10:Q87.0 xref: OMIM:120502 xref: OMIM:602588 xref: OMIM:608389 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:52430 name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia xref: ICD10:G71.8 xref: OMIM:167320 xref: OMIM:615422 xref: OMIM:615424 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:206662 ! Inclusion myopathy relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components relationship: part_of Orphanet:98535 ! Frontotemporal degeneration with dementia property_value: alternative:term "IBMPFD" xsd:string property_value: alternative:term "Limb-girdle muscular dystrophy with Paget disease of bone" xsd:string property_value: alternative:term "Pagetoid amyotrophic lateral sclerosis" xsd:string property_value: alternative:term "Pagetoid neuroskeletal syndrome" xsd:string [Term] id: Orphanet:525 name: Lichen planopilaris xref: ICD10:L66.1 xref: MESH:C535892 xref: SNOMED CT:64540004 xref: UMLS:C0023645 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:254370 ! Rare cutaneous lichen planus property_value: alternative:term "Follicular lichen planus" xsd:string property_value: alternative:term "Lichen follicularis" xsd:string property_value: alternative:term "Lichen planus follicularis" xsd:string property_value: alternative:term "LPP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus (see this term) which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus." xsd:string [Term] id: Orphanet:52503 name: X-linked creatine transporter deficiency xref: ICD10:E72.8 xref: OMIM:300352 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:182076 ! Syndromic neurometabolic disease with X-linked intellectual deficit relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79172 ! Disorder of creatine biosynthesis property_value: alternative:term "CRTR-D" xsd:string property_value: alternative:term "X-linked intellectual deficit - seizures - short stature - midface hypoplasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "X-linked creatine transporter deficiency is a very rare creatine transport disorder characterized clinically by intellectual deficit, seizures, severe speech delay and sometimes midface hypoplasia, microcephaly, long, thin face, and prominent chin in the cases of affected male patients reported to date." xsd:string [Term] id: Orphanet:52530 name: Von Willebrand disease, platelet type xref: ICD10:D69.8 xref: OMIM:177820 xref: SNOMED CT:128115005 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:275736 ! Rare hemorrhagic disorder due to a platelets receptors defect property_value: alternative:term "Pseudo-Von Willebrand disease" xsd:string property_value: alternative:term "Pseudo-Von Willebrand disease type 2B" xsd:string property_value: alternative:term "PT-VWD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia." xsd:string [Term] id: Orphanet:526 name: Liddle syndrome xref: ICD10:I15.1 xref: MEDDRA:10037113 xref: MEDDRA:10052313 xref: MESH:D056929 xref: OMIM:177200 xref: SNOMED CT:71275003 xref: UMLS:C0221043 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:156629 ! Genetic hypertension property_value: alternative:term "Pseudoaldosteronism" xsd:string property_value: alternative:term "Pseudohyperaldosteronism type 1" xsd:string [Term] id: Orphanet:52662 name: Rare teratologic disease is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis property_value: alternative:term "Acquired embryofetopathy" xsd:string property_value: alternative:term "Teratology" xsd:string [Term] id: Orphanet:52688 name: Myelodysplastic syndromes xref: ICD10:D46 xref: MEDDRA:10028532 xref: MESH:D009190 xref: OMIM:614286 xref: SNOMED CT:109995007 xref: SNOMED CT:128623006 xref: SNOMED CT:188736006 xref: UMLS:C0026985 is_a: Orphanet:171895 ! Myeloid hemopathy relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 [Term] id: Orphanet:52759 name: Vasculitis xref: MEDDRA:10036023 xref: MEDDRA:10047115 xref: MESH:D014657 xref: MESH:D056647 xref: SNOMED CT:31996006 xref: SNOMED CT:46956008 xref: UMLS:C0042384 xref: UMLS:C0264939 is_a: Orphanet:98023 ! Rare systemic or rheumatologic disease property_value: alternative:term "Systemic vasculitis" xsd:string [Term] id: Orphanet:528 name: Berardinelli-Seip congenital lipodystrophy xref: ICD10:E88.1 xref: OMIM:269700 xref: OMIM:608594 xref: OMIM:612526 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:139033 ! Progeroid syndrome relationship: part_of Orphanet:181368 ! Insulin-resistance syndrome relationship: part_of Orphanet:363245 ! Genetic progeroid syndrome relationship: part_of Orphanet:98305 ! Genetic lipodystrophy property_value: alternative:term "Beradinelli-Seip syndrome" xsd:string property_value: alternative:term "Brunzell syndrome" xsd:string property_value: alternative:term "BSCL" xsd:string property_value: alternative:term "GCL" xsd:string property_value: alternative:term "Generalized congenital lipodystrophy" xsd:string property_value: alternative:term "Lipoatrophic diabetes" xsd:string [Term] id: Orphanet:529 name: Roch-Leri mesosomatous lipomatosis xref: ICD10:E88.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183484 ! Genetic subcutaneous tissue disease relationship: part_of Orphanet:79382 ! Subcutaneous tissue disease [Term] id: Orphanet:52901 name: Isolated follicle stimulating hormone deficiency xref: ICD10:E23.6 xref: MESH:C537070 xref: OMIM:229070 xref: UMLS:C1856716 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:95488 ! Nonacquired pituitary hormone deficiency relationship: part_of Orphanet:95710 ! Non-acquired premature ovarian failure relationship: part_of Orphanet:98048 ! Rare male infertility property_value: alternative:term "Isolated FSH deficiency" xsd:string [Term] id: Orphanet:52994 name: Orbital leiomyoma xref: ICD10:D31.6 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101950 ! Rare eye tumor property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Orbital leiomyoma is a rare, benign smooth muscle tumor of the orbit occurring intraconally or extraconally." xsd:string [Term] id: Orphanet:53 name: Albers-Schönberg osteopetrosis xref: ICD10:Q78.2 xref: OMIM:166600 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:2781 ! Osteopetrosis relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy relationship: part_of Orphanet:98677 ! Autosomal recessive syndromic optic atrophy property_value: alternative:term "Osteopetrosis autosomal dominant type 2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)." xsd:string [Term] id: Orphanet:530 name: Lipoid proteinosis xref: ICD10:E78.8 xref: OMIM:247100 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:183472 ! Genetic dermis disorder relationship: part_of Orphanet:79381 ! Unclassified dermis disorder property_value: alternative:term "Hyalinosis cutis et mucosae" xsd:string property_value: alternative:term "Urbach-Wiethe disease" xsd:string [Term] id: Orphanet:53035 name: Caroli disease xref: ICD10:Q44.6 xref: MEDDRA:10013003 xref: MESH:C531647 xref: MESH:D016767 xref: OMIM:600643 xref: SNOMED CT:111331000 xref: UMLS:C0162510 xref: UMLS:C1833541 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101941 ! Rare biliary tract disease relationship: part_of Orphanet:108971 ! Nonsyndromic visceral malformation [Term] id: Orphanet:531 name: Miller-Dieker syndrome xref: ICD10:Q04.3 xref: MEDDRA:10068361 xref: MESH:D054221 xref: OMIM:247200 xref: SNOMED CT:253148005 xref: UMLS:C0265219 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102009 ! Classic lissencephaly relationship: part_of Orphanet:166469 ! Chromosomal anomaly with epilepsy as a major feature relationship: part_of Orphanet:261965 ! Partial monosomy of the short arm of chromosome 17 property_value: alternative:term "Lissencephaly due to 17p13.3 deletion" xsd:string property_value: alternative:term "Monosomy 17p13.3" xsd:string property_value: alternative:term "Telomeric deletion 17p" xsd:string [Term] id: Orphanet:53271 name: Muenke syndrome xref: ICD10:Q87.0 xref: MESH:C537369 xref: OMIM:602849 xref: SNOMED CT:440350001 xref: UMLS:C1864436 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis [Term] id: Orphanet:53296 name: Familial cutaneous collagenoma xref: ICD10:L94.8 xref: OMIM:115250 xref: SNOMED CT:239139000 xref: UMLS:C0406817 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:228215 ! Genetic dermis elastic tissue disorder [Term] id: Orphanet:533 name: Listeriosis xref: ICD10:A32.0 xref: ICD10:A32.1 xref: ICD10:A32.7 xref: ICD10:A32.8 xref: ICD10:A32.9 xref: MEDDRA:10024641 xref: MESH:D008088 xref: SNOMED CT:4241002 xref: UMLS:C0023860 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease [Term] id: Orphanet:53347 name: Brody myopathy xref: ICD10:G71.8 xref: MESH:C536607 xref: OMIM:601003 xref: UMLS:C1832918 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206656 ! Non-dystrophic myopathy relationship: part_of Orphanet:209199 ! Qualitative or quantitative defects of protein SERCA1 [Term] id: Orphanet:53351 name: X-linked dystonia-parkinsonism xref: ICD10:G24.1 xref: OMIM:314250 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:306666 ! Rare parkinsonian syndrome due to neurodegenerative disease relationship: part_of Orphanet:307055 ! Rare parkinsonian syndrome due to genetic neurodegenerative disease relationship: part_of Orphanet:98203 ! Combined dystonia property_value: alternative:term "DYT3" xsd:string property_value: alternative:term "Lubag" xsd:string property_value: alternative:term "Lubag syndrome" xsd:string property_value: alternative:term "XDP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "X-linked Dystonia-Parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course." xsd:string [Term] id: Orphanet:53372 name: Hereditary geniospasm xref: ICD10:G25.3 xref: MESH:C537682 xref: OMIM:190100 xref: UMLS:C2931589 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:306712 ! Rare tremor disorder relationship: part_of Orphanet:307061 ! Rare genetic tremor disorder property_value: alternative:term "Familial trembling of the chin" xsd:string property_value: alternative:term "Hereditary chin myoclonus" xsd:string property_value: alternative:term "Hereditary chin-trembling" xsd:string [Term] id: Orphanet:534 name: Oculocerebrorenal syndrome xref: ICD10:E72.0 xref: OMIM:309000 xref: SNOMED CT:79385002 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:182076 ! Syndromic neurometabolic disease with X-linked intellectual deficit relationship: part_of Orphanet:183592 ! Genetic renal tubular disease relationship: part_of Orphanet:79166 ! Disorder of amino acid absorption and transport relationship: part_of Orphanet:93603 ! Rare renal tubular disease relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature relationship: part_of Orphanet:98646 ! Renal disease with cataract relationship: part_of Orphanet:98712 ! Metabolic disease with cataract property_value: alternative:term "Lowe disease" xsd:string property_value: alternative:term "Lowe oculo-cerebro-renal syndrome" xsd:string property_value: alternative:term "Lowe syndrome" xsd:string property_value: alternative:term "OCR" xsd:string property_value: alternative:term "OCRL" xsd:string property_value: alternative:term "Oculo-cerebro-renal dystrophy" xsd:string property_value: alternative:term "Oculo-cerebro-renal syndrome" xsd:string property_value: alternative:term "Oculocerebrorenal dystrophy" xsd:string property_value: alternative:term "Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, growth retardation and renal tubular dysfunction." xsd:string [Term] id: Orphanet:535 name: Cutaneous lupus erythematosus xref: ICD10:L93 xref: MEDDRA:10056509 xref: MESH:D008178 xref: SNOMED CT:7119001 xref: UMLS:C0024137 is_a: Orphanet:315350 ! Autoimmune disease with skin involvement relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 [Term] id: Orphanet:53540 name: Goldmann-Favre syndrome xref: ICD10:H35.5 xref: OMIM:268100 xref: SNOMED CT:232065000 xref: UMLS:C0339541 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy relationship: part_of Orphanet:98670 ! Vitreoretinal degeneration property_value: alternative:term "Enhanced S-cone syndrome" xsd:string property_value: alternative:term "Retinoschisis with early nyctalopia" xsd:string [Term] id: Orphanet:53583 name: Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity xref: ICD10:G24.8 xref: OMIM:601042 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:200037 ! Paroxysmal dystonia property_value: alternative:term "DYT9" xsd:string property_value: alternative:term "Episodic choreoathetosis/spasticity" xsd:string [Term] id: Orphanet:53689 name: Congenital chloride diarrhea xref: ICD10:P78.3 xref: MESH:C536210 xref: OMIM:214700 xref: SNOMED CT:24412005 xref: UMLS:C0267662 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:104003 ! Congenital intestinal transport defect [Term] id: Orphanet:53690 name: Congenital lactase deficiency xref: ICD10:E73.0 xref: OMIM:223000 xref: SNOMED CT:5388008 xref: UMLS:C0268179 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:104006 ! Congenital intestinal disease due to an enzymatic defect relationship: part_of Orphanet:309001 ! Disorder of carbohydrate absorption and transport property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula." xsd:string [Term] id: Orphanet:53691 name: Congenital cornea plana xref: ICD10:Q13.4 xref: OMIM:121400 xref: OMIM:217300 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98621 ! Rare hyperopia and astigmatism [Term] id: Orphanet:53693 name: GRACILE syndrome xref: MESH:C537934 xref: OMIM:603358 xref: UMLS:C1864002 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309136 ! Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes property_value: alternative:term "Fellman disease" xsd:string property_value: alternative:term "Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death" xsd:string property_value: alternative:term "Growth restriction - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E)." xsd:string [Term] id: Orphanet:53696 name: Lethal arthrogryposis - anterior horn cell disease xref: OMIM:611890 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:1037 ! Arthrogryposis multiplex congenita property_value: alternative:term "LAAHD" xsd:string property_value: alternative:term "Vuopala disease" xsd:string [Term] id: Orphanet:53697 name: Gnathodiaphyseal dysplasia xref: OMIM:166260 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:93446 ! Primary bone dysplasia with decreased bone density relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components property_value: alternative:term "GDD" xsd:string [Term] id: Orphanet:53698 name: Hyaline body myopathy xref: ICD10:G71.2 xref: OMIM:255160 xref: OMIM:608358 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:209185 ! Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) relationship: part_of Orphanet:97245 ! Congenital myopathy [Term] id: Orphanet:537 name: Lyell syndrome xref: ICD10:L51.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:95455 ! Toxic epidermal necrolysis [Term] id: Orphanet:53715 name: Tumoral calcinosis xref: ICD10:M11.2 xref: MEDDRA:10059364 xref: OMIM:211900 xref: OMIM:610455 xref: SNOMED CT:61778004 xref: UMLS:C0263628 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182130 ! Tumor of endocrine glands relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:183634 ! Rare genetic parathyroid disease and phosphocalcic metabolism disorder relationship: part_of Orphanet:68415 ! Rare parathyroid diseases and phosphocalcic metabolism disorder relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma [Term] id: Orphanet:53719 name: Wyburn-Mason syndrome xref: ICD10:Q28.2 xref: MEDDRA:10048661 xref: MESH:C536752 xref: SNOMED CT:6729006 xref: UMLS:C0265321 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:141189 ! Cerebrofacial arteriovenous metameric syndrome relationship: part_of Orphanet:79379 ! Skin vascular disease relationship: part_of Orphanet:98592 ! Palpebral tumor with a vascular malformation property_value: alternative:term "Bonnet-Dechaume-Blanc syndrome" xsd:string property_value: alternative:term "CAMS 2" xsd:string property_value: alternative:term "Cerebrofacial arteriovenous metameric syndrome type 2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "ANPM" xsd:string [Term] id: Orphanet:53721 name: Cobb syndrome xref: ICD10:Q27.3 xref: MEDDRA:10068841 xref: SNOMED CT:254774003 xref: UMLS:C0346068 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102006 ! Neurovascular malformation relationship: part_of Orphanet:211266 ! Arteriovenous malformation relationship: part_of Orphanet:79379 ! Skin vascular disease property_value: alternative:term "Cutaneomeningospinal angiomatosis" xsd:string property_value: alternative:term "SAMS 1-31" xsd:string property_value: alternative:term "Spinal arteriovenous metameric syndrome" xsd:string [Term] id: Orphanet:53739 name: Distal hereditary motor neuropathy xref: ICD10:G12.2 is_a: Orphanet:98497 ! Genetic peripheral neuropathy property_value: alternative:term "dHMN" xsd:string property_value: alternative:term "Distal spinal muscular atrophy" xsd:string property_value: alternative:term "dSMA" xsd:string [Term] id: Orphanet:538 name: Lymphangioleiomyomatosis xref: ICD10:J98.4 xref: MEDDRA:10049459 xref: MESH:D018192 xref: OMIM:606690 xref: SNOMED CT:73017001 xref: UMLS:C0751674 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:156610 ! Rare genetic respiratory disease relationship: part_of Orphanet:264740 ! Primary interstitial lung disease specific to adulthood property_value: alternative:term "LAM" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC, see this term)." xsd:string [Term] id: Orphanet:54 name: X-linked recessive ocular albinism xref: ICD10:E70.3 xref: MESH:C537863 xref: OMIM:300500 xref: SNOMED CT:78642008 xref: UMLS:C0342684 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:284804 ! Ocular albinism property_value: alternative:term "OA1" xsd:string property_value: alternative:term "Ocular albinism type 1" xsd:string property_value: alternative:term "Ocular albinism, Nettleship-Falls type" xsd:string property_value: alternative:term "XLOA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males." xsd:string [Term] id: Orphanet:540 name: Familial hemophagocytic lymphohistiocytosis xref: ICD10:D76.1 xref: OMIM:267700 xref: OMIM:603552 xref: OMIM:603553 xref: OMIM:608898 xref: OMIM:613101 xref: SNOMED CT:398250003 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102005 ! Brain inflammatory disease relationship: part_of Orphanet:158038 ! Primary hemophagocytic lymphohistiocytosis property_value: alternative:term "Familial HLH" xsd:string [Term] id: Orphanet:54028 name: Plummer-Vinson syndrome xref: ICD10:D50.1 xref: MEDDRA:10040664 xref: MESH:D011004 xref: SNOMED CT:80126007 xref: UMLS:C0032249 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101936 ! Rare gastro-esophageal disease relationship: part_of Orphanet:248302 ! Rare acquired deficiency anemia property_value: alternative:term "Kelly-Paterson syndrome" xsd:string property_value: alternative:term "Sideropenic dysphagia" xsd:string [Term] id: Orphanet:54057 name: Thrombotic thrombocytopenic purpura xref: ICD10:D69.4 xref: MEDDRA:10043648 xref: MESH:D011697 xref: OMIM:274150 xref: SNOMED CT:78129009 xref: UMLS:C0034155 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:248368 ! Rare thrombotic disorder due to a platelet anomaly relationship: part_of Orphanet:93573 ! Thrombotic microangiopathy property_value: alternative:term "Moschcowitz disease" xsd:string property_value: alternative:term "TTP" xsd:string [Term] id: Orphanet:541 name: Primary cutaneous CD30+ T-cell lymphoproliferative disease xref: ICD10:C86.6 xref: MEDDRA:10065863 xref: MESH:D054446 xref: SNOMED CT:128875000 xref: SNOMED CT:397352006 xref: UMLS:C1301362 xref: UMLS:C1698767 is_a: Orphanet:178548 ! Indolent primary cutaneous T-cell lymphoma relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Primary cutaneous Ki-1+ T-cell lymphoproliferative disease" xsd:string [Term] id: Orphanet:542 name: Primary cutaneous lymphoma xref: ICD10:C84 xref: MEDDRA:10051708 xref: SNOMED CT:28054005 xref: SNOMED CT:400001003 xref: SNOMED CT:419392005 xref: UMLS:C1276146 xref: UMLS:C1302772 is_a: Orphanet:279911 ! Primary organ-specific lymphoma is_a: Orphanet:79386 ! Rare skin tumor or hamartoma [Term] id: Orphanet:54238 name: Myotonic dystrophy type 3 is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_52430 with label: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia" xsd:string [Term] id: Orphanet:54247 name: Posterior cortical atrophy xref: ICD10:G31.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:89043 ! Rare dementia property_value: alternative:term "Benson syndrome" xsd:string property_value: alternative:term "Biparietal Alzheimer disease" xsd:string property_value: alternative:term "PCA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities." xsd:string [Term] id: Orphanet:54251 name: Corticosteroid-sensitive aseptic abscesses syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90077 ! Other acquired skin disease property_value: alternative:term "Aseptic abscesses syndrome" xsd:string property_value: alternative:term "Aseptic systemic abscesses" xsd:string property_value: alternative:term "Disseminated aseptic abscesses" xsd:string [Term] id: Orphanet:54260 name: Left ventricular noncompaction xref: ICD10:I42.8 xref: OMIM:601493 xref: OMIM:601494 xref: OMIM:604169 xref: OMIM:609470 xref: OMIM:611878 xref: OMIM:613424 xref: OMIM:613426 xref: OMIM:615092 xref: OMIM:615373 xref: OMIM:615396 xref: SNOMED CT:427608000 xref: UMLS:C1960469 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:217678 ! Unclassified cardiomyopathy relationship: part_of Orphanet:98054 ! Rare genetic cardiac disease property_value: alternative:term "Left ventricular hypertrabeculation" xsd:string property_value: alternative:term "LVNC" xsd:string property_value: alternative:term "Spongy myocardium" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Left ventricular noncompaction is a cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber. As in other cardiomyopathies, the clinical manifestations include systolic and diastolic dysfunction, associated at times with arrhythmia and systemic embolic events." xsd:string [Term] id: Orphanet:54272 name: Hepatocellular adenoma xref: ICD10:D13.4 xref: MEDDRA:10019827 xref: MESH:D018248 xref: SNOMED CT:78058005 xref: UMLS:C0206669 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:306636 ! Rare hepatic tumor [Term] id: Orphanet:543 name: Burkitt lymphoma xref: ICD10:C83.7 xref: MEDDRA:10006595 xref: MEDDRA:10053518 xref: MEDDRA:10067184 xref: MESH:D002051 xref: MESH:D008228 xref: OMIM:113970 xref: SNOMED CT:118617000 xref: SNOMED CT:22197008 xref: SNOMED CT:397400006 xref: SNOMED CT:77381001 xref: UMLS:C0006413 xref: UMLS:C0079770 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:289644 ! Epstein-Barr virus-associated malignant lymphoproliferative disorder relationship: part_of Orphanet:300846 ! Aggressive B-cell non-Hodgkin lymphoma property_value: alternative:term "Small non-cleaved cell lymphoma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma." xsd:string [Term] id: Orphanet:54368 name: Sarcocystosis xref: ICD10:A07.8 xref: MEDDRA:10039483 xref: MESH:D012523 xref: SNOMED CT:88905005 xref: UMLS:C0036231 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163588 ! Rare parasitic disease property_value: alternative:term "Sarcosporidiosis" xsd:string [Term] id: Orphanet:54370 name: Primary membranoproliferative glomerulonephritis xref: MEDDRA:10018370 xref: MESH:D015432 xref: OMIM:305800 xref: OMIM:609814 xref: OMIM:614809 xref: OMIM:615008 xref: SNOMED CT:80321008 xref: UMLS:C0017662 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:102373 ! Primary glomerular disease property_value: alternative:term "Mesangiocapillary glomerulonephritis" xsd:string property_value: alternative:term "MPGN" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Membranoproliferative glomerulonephritis (MPGN) is a chronic progressive kidney disorder characterized by glomerular capillary wall structural changes and mesangial cell proliferation leading to nephrotic syndrome, hypocomplementemia, hypertension, proteinuria and end-stage kidney disease. MPGN can be due to either idiopathic (type 1, 2 and 3 MPGN; see these terms) or secondary (associated with infectious and immune complex diseases) causes." xsd:string [Term] id: Orphanet:544 name: Diffuse large B-cell lymphoma xref: ICD10:C83.3 xref: MEDDRA:10012818 xref: MESH:D016403 xref: SNOMED CT:109969005 xref: SNOMED CT:46732000 xref: UMLS:C0079744 is_a: Orphanet:300846 ! Aggressive B-cell non-Hodgkin lymphoma relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 property_value: alternative:term "DLBCL" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Primary diffuse large B-cell lymphoma (DLB-CL) is an aggressive tumor accounting for approximately 40% of the B-cell malignancies that presents with single or multiple rapidly enlarging, symptomatic masses in nodal or extranodal sites (stomach, central nervous system, bone, kidneys and testes)." xsd:string [Term] id: Orphanet:545 name: Follicular lymphoma xref: ICD10:C82 xref: MESH:D008224 xref: OMIM:613024 xref: SNOMED CT:277618009 xref: SNOMED CT:308121000 xref: SNOMED CT:55150002 xref: UMLS:C0024301 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:300842 ! Indolent B-cell non-Hodgkin lymphoma property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Follicular lymphoma is a form of non-Hodgkin lymphoma (see this term) characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved." xsd:string [Term] id: Orphanet:54595 name: Craniopharyngioma xref: ICD10:D44.4 xref: MEDDRA:10011318 xref: MESH:D003397 xref: SNOMED CT:189179009 xref: SNOMED CT:40009002 xref: UMLS:C0010276 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:90692 ! Rare endocrine growth disease relationship: part_of Orphanet:95503 ! Pituitary hormone deficiency from tumoral origin relationship: part_of Orphanet:98062 ! Rare nervous system tumor [Term] id: Orphanet:547 name: Non-Hodgkin lymphoma xref: ICD10:C83 xref: MEDDRA:10029547 xref: MESH:D008228 xref: OMIM:605027 xref: SNOMED CT:118601006 xref: SNOMED CT:128929007 xref: SNOMED CT:1929004 xref: UMLS:C0024305 is_a: Orphanet:223735 ! Lymphoma property_value: alternative:term "NHL" xsd:string [Term] id: Orphanet:548 name: Leprosy xref: ICD10:A30.0 xref: ICD10:A30.1 xref: ICD10:A30.2 xref: ICD10:A30.3 xref: ICD10:A30.4 xref: ICD10:A30.5 xref: ICD10:A30.8 xref: ICD10:A30.9 xref: MEDDRA:10024229 xref: MESH:D007918 xref: OMIM:246300 xref: OMIM:607572 xref: OMIM:609888 xref: OMIM:610988 xref: OMIM:613223 xref: OMIM:613407 xref: SNOMED CT:81004002 xref: UMLS:C0023343 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease relationship: part_of Orphanet:206613 ! Infectious disease with peripheral neuropathy [Term] id: Orphanet:549 name: Legionellosis xref: ICD10:A48.1 xref: MEDDRA:10035718 xref: MEDDRA:10061266 xref: MESH:D007876 xref: MESH:D007877 xref: SNOMED CT:195889001 xref: SNOMED CT:26726000 xref: SNOMED CT:269574000 xref: SNOMED CT:312403005 xref: UMLS:C0023240 xref: UMLS:C0023241 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease property_value: alternative:term "Legionnaires' disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Legionellosis or Legionnaires' disease (LD) is a bacterial lung infection characterized by a potentially fatal pneumonia." xsd:string [Term] id: Orphanet:55 name: Oculocutaneous albinism xref: ICD10:E70.3 xref: MESH:D016115 xref: SNOMED CT:63844009 xref: UMLS:C0078918 is_a: Orphanet:183469 ! Genetic hypopigmentation of the skin is_a: Orphanet:352728 ! Disorder of melanin metabolism is_a: Orphanet:79376 ! Hypopigmentation of the skin is_a: Orphanet:98706 ! Oculocutaneous or ocular albinism relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "OCA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7 (see these terms)." xsd:string [Term] id: Orphanet:550 name: MELAS syndrome xref: ICD10:G71.3 xref: MEDDRA:10053872 xref: MESH:D017241 xref: OMIM:540000 xref: SNOMED CT:39925003 xref: UMLS:C0162671 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206966 ! Mitochondrial myopathy relationship: part_of Orphanet:217587 ! Mitochondrial disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:217613 ! Mitochondrial disease with dilated cardiomyopathy relationship: part_of Orphanet:225700 ! Mitochondrial disease with epilepsy relationship: part_of Orphanet:225703 ! Mitochondrial disease with peripheral neuropathy relationship: part_of Orphanet:254776 ! Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98695 ! Mitochondrial disease with eye involvement property_value: alternative:term "Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes" xsd:string property_value: alternative:term "Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes" xsd:string [Term] id: Orphanet:551 name: MERRF syndrome xref: ICD10:G71.3 xref: MEDDRA:10069825 xref: MESH:D017243 xref: OMIM:545000 xref: SNOMED CT:230426003 xref: SNOMED CT:68448003 xref: UMLS:C0162672 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:206966 ! Mitochondrial myopathy relationship: part_of Orphanet:217587 ! Mitochondrial disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:217613 ! Mitochondrial disease with dilated cardiomyopathy relationship: part_of Orphanet:225700 ! Mitochondrial disease with epilepsy relationship: part_of Orphanet:225703 ! Mitochondrial disease with peripheral neuropathy relationship: part_of Orphanet:254776 ! Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:98261 ! Progressive myoclonic epilepsy relationship: part_of Orphanet:98695 ! Mitochondrial disease with eye involvement property_value: alternative:term "Fukuhara syndrome" xsd:string property_value: alternative:term "Myoclonus epilepsy associated with ragged-red fibers" xsd:string [Term] id: Orphanet:552 name: MODY syndrome xref: ICD10:E11.8 xref: OMIM:125850 xref: OMIM:125851 xref: OMIM:600496 xref: OMIM:606391 xref: OMIM:606392 xref: OMIM:606394 xref: OMIM:609812 xref: OMIM:610508 xref: OMIM:612225 xref: OMIM:613370 xref: OMIM:613375 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:181376 ! Rare insulin-independent diabetes mellitus relationship: part_of Orphanet:183625 ! Rare genetic diabetes mellitus property_value: alternative:term "Maturity-onset diabetes of the young" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "MODY syndrome (Maturity Onset Diabetes of the Young) is a rare, familial, clinically and genetically heterogeneous form of young age-onset diabetes characterized by often mild diabetes, lack of pancreatic beta-cell autoimmunity, absence of obesity, and extra-pancreatic manifestations in some patients." xsd:string [Term] id: Orphanet:553 name: Cushing syndrome xref: ICD10:E24 xref: MEDDRA:10011652 xref: MEDDRA:10020562 xref: MEDDRA:10020564 xref: MEDDRA:10020610 xref: MESH:D000308 xref: MESH:D003480 xref: SNOMED CT:275437005 xref: SNOMED CT:47270006 xref: UMLS:C0001622 xref: UMLS:C0010481 is_a: Orphanet:101954 ! Rare adrenal disease is_a: Orphanet:98048 ! Rare male infertility is_a: Orphanet:98049 ! Rare female infertility relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "Cushing's syndrome" xsd:string property_value: alternative:term "Hyperadrenocorticism" xsd:string property_value: alternative:term "Hypercortisolism" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin." xsd:string [Term] id: Orphanet:55595 name: Autosomal dominant limb-girdle muscular dystrophy type 1F xref: ICD10:G71.0 xref: OMIM:608423 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102014 ! Autosomal dominant limb-girdle muscular dystrophy property_value: alternative:term "LGMD1F" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a form of limb girdle muscular dystrophy (LGMD) ; (see this term) characterized by muscle weakness affecting earlier the pelvic girdle and especially the ileopsoas muscle. Respiratory impairment may be observed in advanced stages." xsd:string [Term] id: Orphanet:55596 name: Autosomal dominant limb-girdle muscular dystrophy type 1G xref: ICD10:G71.0 xref: OMIM:609115 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102014 ! Autosomal dominant limb-girdle muscular dystrophy property_value: alternative:term "LGMD1G" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant limb girdle muscular dystrophy (LGMD1G) is a mild form of limb girdle muscular dystrophy (LGMD;see this term), that is characterized by a limb-girdle weakness, marked proximal amyotrophy and abolished myotatic reflexes, associated with progressive fingers and toes flexion limitation." xsd:string [Term] id: Orphanet:556 name: Malakoplakia is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:117569 ! Rare intestinal disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body." xsd:string [Term] id: Orphanet:55654 name: Hypotrichosis simplex xref: ICD10:L65.8 xref: MESH:C537160 xref: OMIM:278150 xref: OMIM:604379 xref: OMIM:605389 xref: OMIM:607903 xref: OMIM:614237 xref: OMIM:614238 xref: OMIM:615059 xref: UMLS:C1854310 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79364 ! Alopecia property_value: alternative:term "Hereditary hypotrichosis simplex" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies." xsd:string [Term] id: Orphanet:55655 name: Pneumococcal meningitis xref: ICD10:G00.1 xref: MEDDRA:10027253 xref: MESH:D008586 xref: SNOMED CT:51169003 xref: UMLS:C0025295 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease relationship: part_of Orphanet:166490 ! Infectious disease with epilepsy relationship: part_of Orphanet:98010 ! Infectious disease of the nervous system [Term] id: Orphanet:557 name: Isolated anorectal malformation xref: ICD10:Q42.0 xref: ICD10:Q42.1 xref: ICD10:Q42.2 xref: ICD10:Q42.3 xref: OMIM:107100 xref: OMIM:207500 xref: OMIM:301800 is_a: Orphanet:96346 ! Anorectal malformation relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 [Term] id: Orphanet:558 name: Marfan syndrome xref: ICD10:Q87.4 xref: MEDDRA:10026829 xref: MESH:D008382 xref: OMIM:154700 xref: OMIM:610380 xref: SNOMED CT:19346006 xref: UMLS:C0024796 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:139030 ! Malformation syndrome with connective tissue involvement relationship: part_of Orphanet:284993 ! Marfan and Marfan-related disorder relationship: part_of Orphanet:285014 ! Rare disease with thoracic aortic aneurysm and aortic dissection relationship: part_of Orphanet:98620 ! Syndromic myopia relationship: part_of Orphanet:98623 ! Syndromic keratoconus relationship: part_of Orphanet:98653 ! Lens position anomaly relationship: part_of Orphanet:98702 ! Connective tissue disease with eye involvement property_value: alternative:term "MFS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations." xsd:string [Term] id: Orphanet:55880 name: Chondrosarcoma xref: MEDDRA:10008734 xref: MESH:D002813 xref: OMIM:215300 xref: SNOMED CT:443520009 xref: UMLS:C0008479 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:223727 ! Bone sarcoma [Term] id: Orphanet:55881 name: Adamantinoma xref: MESH:D050398 xref: OMIM:102660 xref: UMLS:C1367554 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183527 ! Genetic bone tumor relationship: part_of Orphanet:68411 ! Rare bone tumor [Term] id: Orphanet:559 name: Marinesco-Sjögren syndrome xref: ICD10:G11.1 xref: OMIM:248800 xref: SNOMED CT:80734006 xref: UMLS:C0024814 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:207028 ! Cerebellar ataxia with peripheral neuropathy relationship: part_of Orphanet:98098 ! Autosomal recessive degenerative and progressive cerebellar ataxia relationship: part_of Orphanet:98574 ! Syndromic epicanthus relationship: part_of Orphanet:98645 ! Cerebral disease with cataract [Term] id: Orphanet:56 name: Alkaptonuria xref: ICD10:E70.2 xref: MEDDRA:10001689 xref: MESH:C537862 xref: MESH:D000474 xref: OMIM:203500 xref: SNOMED CT:360378009 xref: SNOMED CT:360381004 xref: UMLS:C0002066 xref: UMLS:C2931645 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:284818 ! Disorder of tyrosine metabolism relationship: part_of Orphanet:79217 ! Other metabolic disease with skin involvement relationship: part_of Orphanet:79387 ! Metabolic disease with skin involvement relationship: part_of Orphanet:98615 ! Pigmented conjunctival lesion property_value: alternative:term "Hereditary ochronosis" xsd:string property_value: alternative:term "Homogentisic acid oxidase deficiency" xsd:string [Term] id: Orphanet:560 name: Marshall syndrome xref: ICD10:Q87.0 xref: MESH:C536025 xref: OMIM:154780 xref: SNOMED CT:33410002 xref: UMLS:C0265235 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:93422 ! Type 11 collagen-related bone disorder relationship: part_of Orphanet:98620 ! Syndromic myopia relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature [Term] id: Orphanet:56044 name: Carcinoma of the gallbladder xref: ICD10:C23 xref: SNOMED CT:372140005 xref: UMLS:C0235782 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:306633 ! Rare biliary tract cancer property_value: alternative:term "Gallbladder cancer" xsd:string property_value: alternative:term "GBC" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC; see this term) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites." xsd:string [Term] id: Orphanet:561 name: Marshall-Smith syndrome xref: ICD10:Q87.3 xref: MESH:C536026 xref: OMIM:602535 xref: SNOMED CT:73284007 xref: UMLS:C0265211 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:93460 ! Overgrowth syndrome property_value: alternative:term "Accelerated skeletal maturation - peculiar facies - failure to thrive" xsd:string [Term] id: Orphanet:562 name: McCune-Albright syndrome xref: ICD10:Q78.1 xref: MESH:D005359 xref: OMIM:174800 xref: SNOMED CT:36517007 xref: UMLS:C0242292 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:178040 ! Peripheral precocious puberty relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:314749 ! Rare disease with Cushing syndrome as a major feature relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components relationship: part_of Orphanet:95708 ! Precocious puberty property_value: alternative:term "Gonadotropin-independent female-limited sexual precocity" xsd:string [Term] id: Orphanet:563 name: Peripartum cardiomyopathy xref: ICD10:O90.3 xref: MEDDRA:10049430 xref: SNOMED CT:16253001 xref: SNOMED CT:62377009 xref: UMLS:C0269972 xref: UMLS:C0877208 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163637 ! Rare disorder related with pregnancy, childbirth and puerperium relationship: part_of Orphanet:217629 ! Non-familial dilated cardiomyopathy property_value: alternative:term "Postpartum cardiomyopathy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery." xsd:string [Term] id: Orphanet:56304 name: Atelosteogenesis type II xref: ICD10:Q77.5 xref: MESH:C535395 xref: OMIM:256050 xref: SNOMED CT:254055004 xref: UMLS:C0432203 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:138055 ! Pierre Robin syndrome associated with bone disease relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:93423 ! Sulfation-related bone disorder relationship: part_of Orphanet:93438 ! Mesomelic and rhizo-mesomelic dysplasia property_value: alternative:term "De la Chapelle dysplasia" xsd:string property_value: alternative:term "Neonatal osseous dysplasia type 1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene." xsd:string [Term] id: Orphanet:56305 name: Atelosteogenesis type III xref: ICD10:Q78.8 xref: OMIM:108721 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:138055 ! Pierre Robin syndrome associated with bone disease relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:93425 ! Filamin-related bone disorder relationship: part_of Orphanet:93441 ! Primary bone dysplasia with multiple joint dislocations property_value: alternative:term "AO3" xsd:string property_value: alternative:term "AOIII" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings." xsd:string [Term] id: Orphanet:564 name: Meckel syndrome xref: ICD10:Q61.9 xref: OMIM:249000 xref: OMIM:603194 xref: OMIM:607361 xref: OMIM:611134 xref: OMIM:611561 xref: OMIM:612284 xref: OMIM:613885 xref: OMIM:614175 xref: OMIM:614209 xref: OMIM:615397 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108973 ! Syndromic visceral malformation relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:183533 ! Genetic multiple congenital anomalies/dysmorphic syndrome relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature relationship: part_of Orphanet:269564 ! Genetic syndrome with a central nervous system malformation as major feature relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy relationship: part_of Orphanet:68341 ! Multiple congenital anomalies/dysmorphic syndrome relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:93587 ! Familial cystic renal disease relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature relationship: part_of Orphanet:98645 ! Cerebral disease with cataract relationship: part_of Orphanet:98655 ! Lens shape anomaly property_value: alternative:term "Meckel-Gruber syndrome" xsd:string [Term] id: Orphanet:56425 name: Cold agglutinin disease xref: ICD10:D59.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:228312 ! Autoimmune hemolytic anemia, cold type property_value: alternative:term "CAD" xsd:string property_value: alternative:term "CAS" xsd:string property_value: alternative:term "Chronic cold agglutinin disease" xsd:string property_value: alternative:term "Cold agglutinin syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cold agglutinin disease is a type of autoimmune hemolytic anemia (see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C)." xsd:string [Term] id: Orphanet:565 name: Menkes disease xref: ICD10:E83.0 xref: OMIM:309400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182076 ! Syndromic neurometabolic disease with X-linked intellectual deficit relationship: part_of Orphanet:225692 ! Metal transport or utilization disorder with epilepsy relationship: part_of Orphanet:309839 ! Disorder of copper metabolism relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79367 ! Syndromic hair shaft abnormality relationship: part_of Orphanet:98599 ! Eyebrow/eyelashes structural anomaly property_value: alternative:term "Kinky hair disease" xsd:string property_value: alternative:term "Kinky hair syndrome" xsd:string property_value: alternative:term "MD" xsd:string property_value: alternative:term "Menkes syndrome" xsd:string property_value: alternative:term "MK" xsd:string property_value: alternative:term "MNK" xsd:string property_value: alternative:term "Steely hair disease" xsd:string property_value: alternative:term "Steely hair syndrome" xsd:string property_value: alternative:term "Trichopoliodystrophy" xsd:string property_value: alternative:term "X-linked copper deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair." xsd:string [Term] id: Orphanet:566 name: Congenital microcoria xref: MESH:C537550 xref: OMIM:156600 xref: UMLS:C1303009 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: part_of Orphanet:98634 ! Iridogoniodysgenesis property_value: alternative:term "Congenital miosis" xsd:string [Term] id: Orphanet:567 name: 22q11.2 deletion syndrome xref: ICD10:D82.1 xref: OMIM:188400 xref: OMIM:192430 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:138047 ! Pierre Robin syndrome associated with a chromosomal anomaly relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:156532 ! Rare syndrome with cardiac malformations relationship: part_of Orphanet:181402 ! Syndrome with hypoparathyroidism relationship: part_of Orphanet:262182 ! Partial deletion of the long arm of chromosome 22 relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:331220 ! Immunodeficiency due to absence of thymus relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:98033 ! Rare neurologic disease with psychiatric involvement property_value: alternative:term "22q11DS" xsd:string property_value: alternative:term "CATCH 22" xsd:string property_value: alternative:term "Cayler cardiofacial syndrome" xsd:string property_value: alternative:term "Conotruncal anomaly face syndrome" xsd:string property_value: alternative:term "DiGeorge sequence" xsd:string property_value: alternative:term "DiGeorge syndrome" xsd:string property_value: alternative:term "Microdeletion 22q11.2" xsd:string property_value: alternative:term "Monosomy 22q11" xsd:string property_value: alternative:term "Sedlackova syndrome" xsd:string property_value: alternative:term "Shprintzen syndrome" xsd:string property_value: alternative:term "Takao syndrome" xsd:string property_value: alternative:term "Velocardiofacial syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency." xsd:string [Term] id: Orphanet:568 name: Microphthalmia, Lenz type xref: ICD10:Q11.2 xref: OMIM:300166 xref: OMIM:309800 xref: SNOMED CT:438504004 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: part_of Orphanet:202948 ! Syndromic microphthalmia relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit relationship: part_of Orphanet:98655 ! Lens shape anomaly property_value: alternative:term "Lenz microphthalmia" xsd:string [Term] id: Orphanet:569 name: Familial or sporadic hemiplegic migraine xref: ICD10:G43.1 xref: OMIM:141500 xref: OMIM:602481 xref: OMIM:607516 xref: OMIM:609634 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:166311 ! Benign partial infantile seizures relationship: part_of Orphanet:183503 ! Genetic central nervous system and retinal vascular disease relationship: part_of Orphanet:183509 ! Rare genetic headache relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease relationship: part_of Orphanet:98022 ! Rare headache [Term] id: Orphanet:56965 name: Progressive bulbar paralysis of childhood is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_97229 with label: Riboflavin transporter deficiency" xsd:string [Term] id: Orphanet:56970 name: Transmissible spongiform encephalopathy xref: ICD10:A81 is_a: Orphanet:182070 ! Rare neurodegenerative disease is_a: Orphanet:89043 ! Rare dementia relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 property_value: alternative:term "Prion disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Human prion diseases or transmissible spongiform encephalopathies (TSE) are rare transmissible diseases affecting the central nervous system consisting of lesions limited to the central nervous system without inflammatory or immunologic reaction but with accumulation of an abnormal form of prion protein (PrPsc). Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form of the disease (85% of all forms of TSE). Other forms of TSE is known: genetic TSE (genetic CJD, Gerstmann-Straussler-Scheinker and Fatal Familial Insomnia), and acquired TSE (Kuru, iatrogenic CJD, variant CJD (vCDJ))." xsd:string [Term] id: Orphanet:57 name: Glycogen storage disease due to aldolase A deficiency xref: ICD10:E74.0 xref: OMIM:611881 xref: SNOMED CT:111578003 xref: UMLS:C0272066 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79201 ! Glycogen storage disease relationship: part_of Orphanet:98372 ! Hemolytic anemia due to a disorder of glycolytic enzymes property_value: alternative:term "Glycogen storage disease type 12" xsd:string property_value: alternative:term "Glycogenosis due to aldolase A deficiency" xsd:string property_value: alternative:term "Glycogenosis type 12" xsd:string property_value: alternative:term "GSD due to aldolase A deficiency" xsd:string property_value: alternative:term "GSD type 12" xsd:string [Term] id: Orphanet:570 name: Moebius syndrome xref: ICD10:Q87.0 xref: MEDDRA:10030069 xref: MESH:D020331 xref: OMIM:157900 xref: UMLS:C0221060 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:100932 ! Nuclear oculomotor paralysis relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:156224 ! Paralytic facial malformation relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:98518 ! Cranial nerve and nuclear aplasia relationship: part_of Orphanet:98683 ! Syndrome with a symptomatic strabismus property_value: alternative:term "Congenital facial diplegia" xsd:string property_value: alternative:term "Möbius syndrome" xsd:string [Term] id: Orphanet:57145 name: SUNCT syndrome xref: ICD10:G44.8 xref: MEDDRA:10061981 xref: MESH:D050798 xref: UMLS:C1262087 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98022 ! Rare headache property_value: alternative:term "Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing" xsd:string [Term] id: Orphanet:57146 name: Rare hepatic disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:57196 name: Medial condensing osteitis of the clavicle xref: ICD10:Q74.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:2764 ! Osteochondritis dissecans [Term] id: Orphanet:572 name: Immunodeficiency by defective expression of HLA class 2 xref: ICD10:D81.7 xref: OMIM:209920 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency property_value: alternative:term "Bare lymphocyte syndrome type 2" xsd:string property_value: alternative:term "HLA class 2-negative severe combined immunodeficiency" xsd:string [Term] id: Orphanet:573 name: Monilethrix xref: ICD10:Q84.1 xref: MESH:D056734 xref: OMIM:158000 xref: UMLS:C0546966 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79366 ! Isolated hair shaft abnormality property_value: alternative:term "Moniliform hair syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis." xsd:string [Term] id: Orphanet:574 name: Monosomy 21 xref: ICD10:Q93.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98141 ! Total autosomal monosomy relationship: part_of Orphanet:98642 ! Chromosomal anomaly with cataract property_value: alternative:term "21q deletion" xsd:string property_value: alternative:term "21q- syndrome" xsd:string property_value: alternative:term "Partial 21q monosomy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit." xsd:string [Term] id: Orphanet:575 name: Muckle-Wells syndrome xref: ICD10:E85.0 xref: ICD10:L50.8 xref: MEDDRA:10064569 xref: OMIM:191900 xref: SNOMED CT:15123008 xref: UMLS:C0268390 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182734 ! Genetic urticaria relationship: part_of Orphanet:208650 ! Cryopyrin-associated periodic syndrome relationship: part_of Orphanet:79384 ! Rare urticaria relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "Urticaria - deafness - amyloidosis" xsd:string [Term] id: Orphanet:576 name: Mucolipidosis type 2 xref: ICD10:E77.0 xref: MESH:C538602 xref: OMIM:252500 xref: SNOMED CT:70199000 xref: UMLS:C0020725 xref: UMLS:C2931894 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79212 ! Mucolipidosis relationship: part_of Orphanet:93448 ! Lysosomal storage disease with skeletal involvement property_value: alternative:term "I-cell disease" xsd:string property_value: alternative:term "N-acetyl-glucosamine 1-phosphotransferase deficiency" xsd:string [Term] id: Orphanet:577 name: Mucolipidosis type 3 xref: ICD10:E77.0 xref: OMIM:252600 xref: OMIM:252605 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79212 ! Mucolipidosis relationship: part_of Orphanet:93448 ! Lysosomal storage disease with skeletal involvement property_value: alternative:term "Pseudo-Hurler polydystrophy" xsd:string [Term] id: Orphanet:57777 name: Cirrhotic cardiomyopathy xref: ICD10:I42.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101939 ! Rare parenchymatous liver disease relationship: part_of Orphanet:217598 ! Non-familial hypertrophic cardiomyopathy relationship: part_of Orphanet:217629 ! Non-familial dilated cardiomyopathy [Term] id: Orphanet:57782 name: Mazabraud syndrome xref: ICD10:D21.9 xref: ICD10:M85.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components property_value: alternative:term "Myxoma with fibrous dysplasia" xsd:string [Term] id: Orphanet:578 name: Mucolipidosis type 4 xref: ICD10:E75.1 xref: OMIM:252650 xref: SNOMED CT:111384001 xref: UMLS:C0238286 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:225681 ! Lysosomal disease with epilepsy relationship: part_of Orphanet:385 ! Neurodegeneration with brain iron accumulation relationship: part_of Orphanet:79212 ! Mucolipidosis relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy relationship: part_of Orphanet:98711 ! Metabolic disease with corneal opacity [Term] id: Orphanet:579 name: Mucopolysaccharidosis type 1 xref: ICD10:E76.0 xref: MEDDRA:10056886 xref: MESH:D008059 xref: OMIM:607014 xref: OMIM:607015 xref: OMIM:607016 xref: SNOMED CT:75610003 xref: UMLS:C0023786 xref: UMLS:C2713321 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79213 ! Mucopolysaccharidosis relationship: part_of Orphanet:93448 ! Lysosomal storage disease with skeletal involvement relationship: part_of Orphanet:98596 ! Eyebrow hypertrophy relationship: part_of Orphanet:98711 ! Metabolic disease with corneal opacity property_value: alternative:term "Alpha-L-iduronidase deficiency" xsd:string property_value: alternative:term "MPS1" xsd:string [Term] id: Orphanet:58 name: Alexander disease xref: ICD10:E75.2 xref: MESH:D038261 xref: OMIM:203450 xref: SNOMED CT:81854007 xref: UMLS:C0270726 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:68356 ! Leukodystrophy relationship: part_of Orphanet:98691 ! Abnormal eye movements property_value: alternative:term "AxD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II (see these terms) manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death." xsd:string [Term] id: Orphanet:580 name: Mucopolysaccharidosis type 2 xref: ICD10:E76.1 xref: MEDDRA:10056889 xref: MESH:D016532 xref: OMIM:309900 xref: SNOMED CT:70737009 xref: UMLS:C0026705 xref: UMLS:C2718304 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182076 ! Syndromic neurometabolic disease with X-linked intellectual deficit relationship: part_of Orphanet:217581 ! Lysosomal disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79213 ! Mucopolysaccharidosis relationship: part_of Orphanet:79388 ! Mucopolysaccharidosis with skin involvement relationship: part_of Orphanet:93448 ! Lysosomal storage disease with skeletal involvement relationship: part_of Orphanet:98578 ! Ptosis property_value: alternative:term "Hunter syndrome" xsd:string property_value: alternative:term "Iduronate 2-sulfatase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement." xsd:string [Term] id: Orphanet:58017 name: Hairy cell leukemia xref: ICD10:C91.4 xref: MEDDRA:10019053 xref: MESH:D007943 xref: SNOMED CT:118613001 xref: SNOMED CT:54087003 xref: UMLS:C0023443 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:300842 ! Indolent B-cell non-Hodgkin lymphoma property_value: alternative:term "HCL" xsd:string property_value: alternative:term "Leukemic reticuloendotheliosis" xsd:string [Term] id: Orphanet:58040 name: Osteoblastoma xref: MEDDRA:10004430 xref: MESH:D018215 xref: SNOMED CT:55333008 xref: UMLS:C0029417 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:68411 ! Rare bone tumor [Term] id: Orphanet:581 name: Mucopolysaccharidosis type 3 xref: ICD10:E76.2 xref: MEDDRA:10056890 xref: MESH:D009084 xref: OMIM:252900 xref: OMIM:252920 xref: OMIM:252930 xref: OMIM:252940 xref: SNOMED CT:59990008 xref: SNOMED CT:88393000 xref: UMLS:C0026706 xref: UMLS:C0086648 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:225681 ! Lysosomal disease with epilepsy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79213 ! Mucopolysaccharidosis relationship: part_of Orphanet:93448 ! Lysosomal storage disease with skeletal involvement property_value: alternative:term "MPS III" xsd:string property_value: alternative:term "Mucopolysaccharidosis type III" xsd:string property_value: alternative:term "Sanfilippo disease" xsd:string [Term] id: Orphanet:582 name: Mucopolysaccharidosis type 4 xref: ICD10:E76.2 xref: MEDDRA:10028095 xref: MESH:D009085 xref: OMIM:252300 xref: OMIM:253000 xref: OMIM:253010 xref: SNOMED CT:130197005 xref: SNOMED CT:378007 xref: SNOMED CT:7259005 xref: UMLS:C0026707 xref: UMLS:C0086651 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:79213 ! Mucopolysaccharidosis relationship: part_of Orphanet:93448 ! Lysosomal storage disease with skeletal involvement relationship: part_of Orphanet:98711 ! Metabolic disease with corneal opacity property_value: alternative:term "Morquio disease" xsd:string [Term] id: Orphanet:58208 name: Pericarditis xref: ICD10:I30 xref: MEDDRA:10034484 xref: MESH:D010493 xref: SNOMED CT:23627006 xref: SNOMED CT:3238004 xref: UMLS:C0031046 xref: UMLS:C0265143 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:97929 ! Rare cardiac disease [Term] id: Orphanet:58220 name: Microscopic colitis xref: ICD10:K52.8 xref: MEDDRA:10056979 xref: MESH:D046728 xref: SNOMED CT:235753003 xref: UMLS:C0400821 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:104012 ! Rare inflammatory bowel disease [Term] id: Orphanet:583 name: Mucopolysaccharidosis type 6 xref: ICD10:E76.2 xref: MEDDRA:10056892 xref: MESH:D009087 xref: OMIM:253200 xref: SNOMED CT:52677002 xref: SNOMED CT:69463008 xref: UMLS:C0026709 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:79213 ! Mucopolysaccharidosis relationship: part_of Orphanet:93448 ! Lysosomal storage disease with skeletal involvement relationship: part_of Orphanet:98711 ! Metabolic disease with corneal opacity property_value: alternative:term "ARSB deficiency" xsd:string property_value: alternative:term "Arylsulfatase B deficiency" xsd:string property_value: alternative:term "ASB deficiency" xsd:string property_value: alternative:term "Maroteaux-Lamy disease" xsd:string property_value: alternative:term "MPS6" xsd:string property_value: alternative:term "MPSVI" xsd:string property_value: alternative:term "Mucopolysaccharidosis type VI" xsd:string property_value: alternative:term "N-acetylgalactosamine 4-sulfatase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate." xsd:string [Term] id: Orphanet:584 name: Mucopolysaccharidosis type 7 xref: ICD10:E76.2 xref: MEDDRA:10056893 xref: MESH:D016538 xref: OMIM:253220 xref: SNOMED CT:124470009 xref: SNOMED CT:43916004 xref: UMLS:C0085132 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79213 ! Mucopolysaccharidosis relationship: part_of Orphanet:93448 ! Lysosomal storage disease with skeletal involvement property_value: alternative:term "Beta-glucuronidase deficiency" xsd:string property_value: alternative:term "Sly disease" xsd:string [Term] id: Orphanet:585 name: Multiple sulfatase deficiency xref: ICD10:E75.2 xref: OMIM:272200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139009 ! Developmental anomaly of metabolic origin relationship: part_of Orphanet:281241 ! Autosomal ichthyosis syndrome with fatal disease course relationship: part_of Orphanet:371442 ! Sphingolipidosis with epilepsy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79225 ! Sphingolipidosis relationship: part_of Orphanet:93448 ! Lysosomal storage disease with skeletal involvement property_value: alternative:term "Austin type juvenile sulfatidosis" xsd:string property_value: alternative:term "MSD" xsd:string property_value: alternative:term "Mucosulfatidosis" xsd:string [Term] id: Orphanet:586 name: Cystic fibrosis xref: ICD10:E84 xref: MEDDRA:10011762 xref: MESH:D003550 xref: OMIM:219700 xref: SNOMED CT:190905008 xref: UMLS:C0010674 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:101937 ! Rare pancreatic disease relationship: part_of Orphanet:101944 ! Rare pulmonary disease relationship: part_of Orphanet:156610 ! Rare genetic respiratory disease relationship: part_of Orphanet:165661 ! Genetic pancreatic disease relationship: part_of Orphanet:98048 ! Rare male infertility property_value: alternative:term "CF" xsd:string property_value: alternative:term "Mucoviscidosis" xsd:string [Term] id: Orphanet:587 name: Muir-Torre syndrome xref: ICD10:C44 xref: ICD10:D23 xref: MEDDRA:10063042 xref: MESH:D055653 xref: OMIM:158320 xref: SNOMED CT:403824007 xref: UMLS:C1321489 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:144 ! Hereditary nonpolyposis colon cancer relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma relationship: part_of Orphanet:98582 ! Benign tumor of palpebral epidermis relationship: part_of Orphanet:98585 ! Palpebral sebaceus gland tumor property_value: alternative:term "Multiple keratoacanthoma, Muir-Torre type" xsd:string [Term] id: Orphanet:588 name: Muscle-eye-brain disease xref: ICD10:Q04.3 xref: OMIM:236670 xref: OMIM:253280 xref: OMIM:253800 xref: OMIM:613150 xref: OMIM:613153 xref: OMIM:613154 xref: OMIM:615181 xref: OMIM:615350 xref: SNOMED CT:277950001 xref: UMLS:C0457133 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:207119 ! Qualitative or quantitative defects of FKRP relationship: part_of Orphanet:207122 ! Qualitative or quantitative defects of fukutin relationship: part_of Orphanet:209024 ! Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase relationship: part_of Orphanet:209033 ! Qualitative or quantitative defects of protein O-mannosyltransferase 2 relationship: part_of Orphanet:309469 ! Disorder of O-mannosylglycan synthesis relationship: part_of Orphanet:352687 ! Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature relationship: part_of Orphanet:371235 ! Congenital disorder of glycosylation with developmental anomaly relationship: part_of Orphanet:98620 ! Syndromic myopia property_value: alternative:term "MEB syndrome" xsd:string property_value: alternative:term "Muscle-eye-brain syndrome" xsd:string property_value: alternative:term "Santavuori congenital muscular dystrophy" xsd:string [Term] id: Orphanet:589 name: Myasthenia gravis xref: ICD10:G70.0 xref: MEDDRA:10028417 xref: MESH:D009157 xref: OMIM:159400 xref: OMIM:254200 xref: OMIM:607085 xref: SNOMED CT:91637004 xref: UMLS:C0026896 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:98494 ! Acquired neuromuscular junction disease property_value: alternative:term "Acquired myasthenia" xsd:string property_value: alternative:term "Autoimmune myasthenia gravis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles." xsd:string [Term] id: Orphanet:59 name: Allan-Herndon-Dudley syndrome xref: ICD10:E03.1 xref: MESH:C537047 xref: OMIM:300523 is_a: Orphanet:280270 ! Pelizaeus-Merzbacher-like disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:226310 ! Peripheral hypothyroidism relationship: part_of Orphanet:320350 ! Pure or complex X-linked spastic paraplegia relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "AHDS" xsd:string property_value: alternative:term "MCT8 deficiency" xsd:string property_value: alternative:term "Monocarboxylate transporter 8 deficiency" xsd:string property_value: alternative:term "X-linked intellectual deficit - hypotonia" xsd:string [Term] id: Orphanet:590 name: Congenital myasthenic syndromes xref: ICD10:G70.2 xref: MESH:D020294 xref: OMIM:254190 xref: OMIM:254210 xref: OMIM:254300 xref: OMIM:601462 xref: OMIM:603034 xref: OMIM:605809 xref: OMIM:608930 xref: OMIM:608931 xref: OMIM:610542 xref: OMIM:614198 xref: OMIM:614750 xref: UMLS:C0751882 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:98495 ! Genetic disease of neuromuscular junction relationship: part_of Orphanet:98578 ! Ptosis relationship: part_of Orphanet:98690 ! Myasthenic syndrome with eye involvement [Term] id: Orphanet:591 name: Furuncular myiasis xref: ICD10:B87.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:165961 ! Subcutaneous myiasis property_value: alternative:term "Furunculoid myiasis" xsd:string property_value: alternative:term "Furunculous myiasis" xsd:string [Term] id: Orphanet:59135 name: Laing distal myopathy xref: ICD10:G71.0 xref: OMIM:160500 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206650 ! Autosomal dominant distal myopathy relationship: part_of Orphanet:209185 ! Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) property_value: alternative:term "Distal myopathy type 1" xsd:string property_value: alternative:term "Laing early-onset distal myopathy" xsd:string property_value: alternative:term "MPD1" xsd:string [Term] id: Orphanet:59181 name: Sorsby's fundus dystrophy xref: ICD10:H35.5 xref: OMIM:136900 xref: OMIM:264420 xref: SNOMED CT:193410003 xref: UMLS:C0339515 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." xsd:string [Term] id: Orphanet:592 name: Macrophagic myofasciitis xref: ICD10:M60.8 xref: MESH:C537829 xref: UMLS:C2931639 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206638 ! Acquired skeletal muscle disease property_value: alternative:term "MMF" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Macrophagic myofasciitis (MMF) is an inflammatory myopathy triggered by aluminium-containing vaccines that is characterized by diffuse myalgia, arthralgia, muscle weakness, and chronic fatigue." xsd:string [Term] id: Orphanet:59298 name: Schilder disease xref: ICD10:G37.0 xref: OMIM:272100 xref: SNOMED CT:49692006 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:228145 ! Multiple sclerosis variant property_value: alternative:term "Myelinoclastic diffuse sclerosis" xsd:string property_value: alternative:term "Schilder's disease" xsd:string [Term] id: Orphanet:593 name: Myofibrillar myopathy xref: ICD10:G71.8 is_a: Orphanet:206656 ! Non-dystrophic myopathy relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:59303 name: Ichthyosis - hypotrichosis - sclerosing cholangitis xref: OMIM:607626 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101941 ! Rare biliary tract disease relationship: part_of Orphanet:156607 ! Genetic biliary tract disease relationship: part_of Orphanet:281222 ! Autosomal ichthyosis syndrome with prominent hair abnormalities property_value: alternative:term "IHSC" xsd:string property_value: alternative:term "NISCH syndrome" xsd:string [Term] id: Orphanet:59305 name: Gestational trophoblastic neoplasm xref: MEDDRA:10061988 xref: MESH:D031901 xref: SNOMED CT:416441004 xref: SNOMED CT:417475006 xref: UMLS:C1135868 is_a: Orphanet:183731 ! Rare genetic gynecological and obstetrical diseases is_a: Orphanet:254685 ! Gestational trophoblastic disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "GTN" xsd:string [Term] id: Orphanet:59306 name: McLeod neuroacanthocytosis syndrome xref: OMIM:300842 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:217619 ! Syndrome associated with dilated cardiomyopathy relationship: part_of Orphanet:225713 ! Other metabolic disease with epilepsy relationship: part_of Orphanet:263440 ! Neuroacanthocytosis relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:98366 ! Constitutional hemolytic anemia due to acanthocytosis property_value: alternative:term "MLS" xsd:string property_value: alternative:term "X-linked McLeod syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens." xsd:string [Term] id: Orphanet:59315 name: Rhombencephalosynapsis xref: ICD10:Q04.3 xref: SNOMED CT:442300000 xref: UMLS:C1866130 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182061 ! Cerebellar malformation [Term] id: Orphanet:595 name: Centronuclear myopathy xref: ICD10:G71.2 is_a: Orphanet:97245 ! Congenital myopathy is_a: Orphanet:98578 ! Ptosis property_value: alternative:term "CNM" xsd:string [Term] id: Orphanet:596 name: X-linked centronuclear myopathy xref: ICD10:G71.2 xref: MESH:C538647 xref: OMIM:310400 xref: SNOMED CT:46804001 xref: UMLS:C0410203 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:207110 ! Qualitative or quantitative defects of myotubularin relationship: part_of Orphanet:595 ! Centronuclear myopathy relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit relationship: part_of Orphanet:98578 ! Ptosis property_value: alternative:term "Myotubular myopathy" xsd:string property_value: alternative:term "XLCNM" xsd:string property_value: alternative:term "XLMTM" xsd:string [Term] id: Orphanet:597 name: Central core disease xref: ICD10:G71.2 xref: OMIM:117000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:172976 ! Congenital myopathy with cores [Term] id: Orphanet:598 name: Multiminicore myopathy xref: ICD10:G71.2 xref: OMIM:117000 xref: OMIM:255320 xref: OMIM:602771 xref: OMIM:607552 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:172976 ! Congenital myopathy with cores relationship: part_of Orphanet:209193 ! Qualitative or quantitative defects of selenoprotein N1 property_value: alternative:term "MmD" xsd:string property_value: alternative:term "Multiminicore disease" xsd:string [Term] id: Orphanet:599 name: Distal myopathy xref: ICD10:G71.0 is_a: Orphanet:206634 ! Genetic skeletal muscle disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands." xsd:string [Term] id: Orphanet:6 name: Isolated 3-methylcrotonyl-CoA carboxylase deficiency xref: ICD10:E71.1 xref: MESH:C535308 xref: OMIM:210200 xref: OMIM:210210 xref: SNOMED CT:124719001 xref: SNOMED CT:13144005 xref: UMLS:C0268600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79163 ! Classic organic aciduria property_value: alternative:term "3-methylcrotonylglycinuria" xsd:string property_value: alternative:term "MCC deficiency" xsd:string property_value: alternative:term "MCCD" xsd:string [Term] id: Orphanet:60 name: Alpha-1-antitrypsin deficiency xref: ICD10:E88.0 xref: MEDDRA:10001806 xref: MESH:C531610 xref: MESH:D019896 xref: OMIM:613490 xref: SNOMED CT:30188007 xref: UMLS:C0221757 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:101944 ! Rare pulmonary disease relationship: part_of Orphanet:156610 ! Rare genetic respiratory disease relationship: part_of Orphanet:91088 ! Other metabolic disease relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease [Term] id: Orphanet:600 name: Distal myopathy with vocal cord weakness xref: ICD10:G71.0 xref: OMIM:606070 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206650 ! Autosomal dominant distal myopathy property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction." xsd:string [Term] id: Orphanet:60014 name: Argyria xref: ICD10:T56.8 xref: MEDDRA:10003094 xref: MESH:D001129 xref: SNOMED CT:255636009 xref: SNOMED CT:66994003 xref: SNOMED CT:77783001 xref: UMLS:C0003782 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108999 ! Rare intoxication property_value: alternative:term "Silver staining" xsd:string [Term] id: Orphanet:60015 name: Parietal foramina xref: ICD10:Q75.8 xref: OMIM:168500 xref: OMIM:609566 xref: OMIM:609597 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:183542 ! Genetic cranial malformation relationship: part_of Orphanet:93451 ! Cleidocranial dysplasia and isolated cranial ossification defect relationship: part_of Orphanet:98038 ! Cranial malformation property_value: alternative:term "Catlin marks" xsd:string property_value: alternative:term "Enlarged parietal foramina" xsd:string property_value: alternative:term "Foramina parietalia permagna" xsd:string property_value: alternative:term "Hereditary cranium bifidum" xsd:string [Term] id: Orphanet:60025 name: Pulmonary alveolar microlithiasis xref: ICD10:J84.0 xref: MEDDRA:10037315 xref: OMIM:265100 xref: SNOMED CT:87153008 xref: UMLS:C0155912 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:156610 ! Rare genetic respiratory disease relationship: part_of Orphanet:97955 ! Rare respiratory disease [Term] id: Orphanet:60026 name: Pulmonary nodular lymphoid hyperplasia xref: OMIM:178610 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101944 ! Rare pulmonary disease property_value: alternative:term "Pulmonary pseudolymphoma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung." xsd:string [Term] id: Orphanet:60030 name: Loeys-Dietz syndrome type 1 xref: ICD10:Q87.4 xref: OMIM:609192 xref: OMIM:610168 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:284993 ! Marfan and Marfan-related disorder relationship: part_of Orphanet:285014 ! Rare disease with thoracic aortic aneurysm and aortic dissection property_value: alternative:term "Aortic aneurysm syndrome due to TGF-beta receptors anomalies" xsd:string [Term] id: Orphanet:60032 name: Recurrent respiratory papillomatosis xref: MEDDRA:10059314 xref: MESH:C535297 xref: UMLS:C1168198 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101944 ! Rare pulmonary disease [Term] id: Orphanet:60033 name: Idiopathic bronchiectasis xref: ICD10:J47 xref: OMIM:211400 xref: OMIM:613021 xref: OMIM:613071 xref: SNOMED CT:233629001 xref: UMLS:C0339985 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101944 ! Rare pulmonary disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "#160;(IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies)." xsd:string [Term] id: Orphanet:60040 name: Megalencephaly-capillary malformation-polymicrogyria syndrome xref: ICD10:Q87.3 xref: OMIM:602501 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:183478 ! Genetic skin vascular disease relationship: part_of Orphanet:211247 ! Capillary malformation relationship: part_of Orphanet:79379 ! Skin vascular disease relationship: part_of Orphanet:93460 ! Overgrowth syndrome property_value: alternative:term "Macrocephaly - cutis marmorata telangiectatica congenita" xsd:string property_value: alternative:term "Macrocephaly-capillary malformation syndrome" xsd:string property_value: alternative:term "MCAP" xsd:string property_value: alternative:term "MCM" xsd:string property_value: alternative:term "MCMTC" xsd:string property_value: alternative:term "Megalencephaly - cutis marmorata telangiectatica congenita" xsd:string property_value: alternative:term "Megalencephaly-capillary malformation syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism." xsd:string [Term] id: Orphanet:60041 name: Congenital heart block xref: ICD10:Q24.6 xref: MEDDRA:10019263 xref: MESH:C535758 xref: OMIM:234700 xref: SNOMED CT:46619002 xref: UMLS:C0149530 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease property_value: alternative:term "Congenital atrioventricular block" xsd:string [Term] id: Orphanet:602 name: Distal myopathy, Nonaka type xref: ICD10:G71.8 xref: MESH:C536816 xref: OMIM:600737 xref: OMIM:605820 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:206653 ! Autosomal recessive distal myopathy relationship: part_of Orphanet:206662 ! Inclusion myopathy relationship: part_of Orphanet:209203 ! Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - relationship: part_of Orphanet:309526 ! Disorder of multiple glycosylation relationship: part_of Orphanet:371047 ! Congenital disorder of glycosylation with neurological involvement property_value: alternative:term "Distal myopathy with rimmed vacuoles" xsd:string property_value: alternative:term "Hereditary inclusion body myopathy type 2" xsd:string property_value: alternative:term "HIBM2" xsd:string property_value: alternative:term "IBM2" xsd:string property_value: alternative:term "Inclusion body myopathy type 2" xsd:string property_value: alternative:term "Nonaka myopathy" xsd:string property_value: alternative:term "Quadriceps-sparing myopathy" xsd:string [Term] id: Orphanet:603 name: Distal myopathy, Welander type xref: ICD10:G71.0 xref: MESH:C536690 xref: OMIM:604454 xref: UMLS:C2931290 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206650 ! Autosomal dominant distal myopathy property_value: alternative:term "Distal myopathy, Swedish type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Welander distal myopathy is a distal, slowly progressive myopathy with late onset (after the age of 40) inherited as an autosomal dominant trait, presenting with clumsiness in performing fine motor skills with the index finger and thumb followed by progression to all the finger extensor muscles and atrophy of intrinsic hand muscles. Lower limb involvement occurs later." xsd:string [Term] id: Orphanet:606 name: Proximal myotonic myopathy xref: ICD10:G71.1 xref: MESH:D020967 xref: OMIM:602668 xref: UMLS:C0752354 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:206647 ! Myotonic dystrophy relationship: part_of Orphanet:98578 ! Ptosis property_value: alternative:term "Myotonic dystrophy type 2" xsd:string property_value: alternative:term "Proximal myotonic dystrophy" xsd:string property_value: alternative:term "Ricker disease" xsd:string property_value: alternative:term "Ricker syndrome" xsd:string [Term] id: Orphanet:607 name: Nemaline myopathy xref: ICD10:G71.2 xref: MESH:D017696 xref: OMIM:161800 xref: OMIM:256030 xref: OMIM:605355 xref: OMIM:609273 xref: OMIM:609284 xref: OMIM:609285 xref: OMIM:610687 xref: OMIM:615348 xref: SNOMED CT:75072002 xref: UMLS:C0206157 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:97245 ! Congenital myopathy property_value: alternative:term "NEM" xsd:string property_value: alternative:term "Nemaline rod myopathy" xsd:string property_value: alternative:term "NM" xsd:string [Term] id: Orphanet:609 name: Tibial muscular dystrophy xref: ICD10:G71.0 xref: MESH:C536815 xref: OMIM:600334 xref: UMLS:C1838244 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:206650 ! Autosomal dominant distal myopathy relationship: part_of Orphanet:209053 ! Qualitative or quantitative defects of titin property_value: alternative:term "Distal myopathy, Markesbery-Griggs type" xsd:string property_value: alternative:term "Distal myopathy, Udd type" xsd:string property_value: alternative:term "Tardive tibial muscular dystrophy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Tibial muscular dystrophy (TMD) is an autosomal dominant distal myopathy with late adult onset of lowly progressive muscle weakness confined to tibial anterior muscles." xsd:string [Term] id: Orphanet:61 name: Alpha-mannosidosis xref: ICD10:E77.1 xref: MESH:D008363 xref: OMIM:248500 xref: SNOMED CT:124466001 xref: UMLS:C0024748 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:139009 ! Developmental anomaly of metabolic origin relationship: part_of Orphanet:217581 ! Lysosomal disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79215 ! Oligosaccharidosis relationship: part_of Orphanet:93448 ! Lysosomal storage disease with skeletal involvement relationship: part_of Orphanet:98644 ! Cataract associated with a metabolic disease relationship: part_of Orphanet:98711 ! Metabolic disease with corneal opacity relationship: part_of Orphanet:98712 ! Metabolic disease with cataract property_value: alternative:term "Lysosomal alpha-D-mannosidase deficiency" xsd:string [Term] id: Orphanet:610 name: Bethlem myopathy xref: ICD10:G71.0 xref: MESH:C535436 xref: OMIM:158810 xref: UMLS:C1834674 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206644 ! Progressive muscular dystrophy relationship: part_of Orphanet:207090 ! Qualitative or quantitative defects of collagen 6 relationship: part_of Orphanet:97242 ! Congenital muscular dystrophy property_value: alternative:term "Benign autosomal dominant myopathy" xsd:string [Term] id: Orphanet:611 name: Inclusion body myositis xref: ICD10:M60.8 xref: OMIM:147421 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:98482 ! Idiopathic inflammatory myopathy property_value: alternative:term "IBM" xsd:string property_value: alternative:term "sIBM" xsd:string property_value: alternative:term "Sporadic inclusion body myositis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features." xsd:string [Term] id: Orphanet:612 name: Potassium-aggravated myotonia xref: ICD10:G71.1 xref: MESH:C538353 xref: OMIM:608390 xref: UMLS:C2931826 is_a: Orphanet:206970 ! Myotonic syndrome is_a: Orphanet:352298 ! Genetic muscular channelopathy is_a: Orphanet:71864 ! Muscular channelopathy relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "K+-aggravated myotonia" xsd:string property_value: alternative:term "K-aggravated myotonia" xsd:string property_value: alternative:term "PAM" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia (see these terms)." xsd:string [Term] id: Orphanet:614 name: Thomsen and Becker disease xref: ICD10:G71.1 xref: OMIM:160800 xref: OMIM:255700 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:206973 ! Congenital myotonia relationship: part_of Orphanet:352298 ! Genetic muscular channelopathy relationship: part_of Orphanet:71864 ! Muscular channelopathy property_value: alternative:term "Myotonia congenita" xsd:string [Term] id: Orphanet:615 name: Familial atrial myxoma xref: ICD10:D15.1 xref: MESH:C538262 xref: OMIM:255960 xref: UMLS:C1850635 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:168194 ! Rare cardiac tumor relationship: part_of Orphanet:271841 ! Genetic cardiac tumor [Term] id: Orphanet:616 name: Medulloblastoma xref: MEDDRA:10027107 xref: MESH:D008527 xref: OMIM:155255 xref: SNOMED CT:443333004 xref: SNOMED CT:83217000 xref: UMLS:C0025149 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:251852 ! Embryonal tumor of the neuroepithelial tissue [Term] id: Orphanet:617 name: Congenital primary megaureter xref: ICD10:Q62.2 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182124 ! Nonsyndromic urogenital tract malformation of male and female relationship: part_of Orphanet:357506 ! Genetic nonsyndromic renal or urinary tract malformation relationship: part_of Orphanet:93546 ! Nonsyndromic renal or urinary tract malformation property_value: alternative:term "Congenital primary megalo-ureter" xsd:string [Term] id: Orphanet:618 name: Familial melanoma xref: ICD10:C43 xref: OMIM:155600 xref: OMIM:155601 xref: OMIM:608035 xref: OMIM:609048 xref: OMIM:613099 xref: OMIM:613972 xref: OMIM:615134 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma relationship: part_of Orphanet:98589 ! Palpebral malignant melanoma [Term] id: Orphanet:62 name: Autosomal recessive limb-girdle muscular dystrophy type 2D xref: ICD10:G71.0 xref: OMIM:608099 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102015 ! Autosomal recessive limb-girdle muscular dystrophy relationship: part_of Orphanet:207060 ! Qualitative or quantitative defects of alpha-sarcoglycan relationship: part_of Orphanet:217610 ! Neuromuscular disease with dilated cardiomyopathy property_value: alternative:term "Alpha-sarcoglycanopathy" xsd:string property_value: alternative:term "LGMD2D" xsd:string property_value: alternative:term "Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is limb-girdle muscular dystrophy (LGMD; see this term) characterized by limb-girdle weakness and calf pseudohypertrophy." xsd:string [Term] id: Orphanet:620 name: Common mesentery xref: ICD10:Q43.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:108967 ! Nonsyndromic intestinal malformation property_value: alternative:term "Universal mesentery" xsd:string [Term] id: Orphanet:621 name: Hereditary methemoglobinemia xref: ICD10:D74.0 xref: OMIM:250700 xref: OMIM:250790 xref: OMIM:250800 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:68364 ! Hemoglobinopathy [Term] id: Orphanet:622 name: Homocystinuria without methylmalonic aciduria xref: ICD10:E72.1 xref: OMIM:236270 xref: OMIM:250940 xref: OMIM:277410 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79171 ! Disorder of cobalamin metabolism and transport relationship: part_of Orphanet:79173 ! Disorder of methionine cycle and sulfur amino acid metabolism relationship: part_of Orphanet:98396 ! Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder property_value: alternative:term "Functional methionine synthase deficiency" xsd:string property_value: alternative:term "Methylcobalamin deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "v1)." xsd:string [Term] id: Orphanet:623 name: NAME syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_1359 with label: Carney complex" xsd:string [Term] id: Orphanet:624 name: Familial multiple nevi flammei xref: ICD10:Q82.5 xref: OMIM:163000 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:183478 ! Genetic skin vascular disease relationship: part_of Orphanet:68419 ! Vascular anomaly or angioma relationship: part_of Orphanet:79379 ! Skin vascular disease property_value: alternative:term "Familial multiple port-wine stains" xsd:string [Term] id: Orphanet:626 name: Large congenital melanocytic nevus xref: ICD10:D22 xref: OMIM:137550 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:294057 ! Rare nevus property_value: alternative:term "Congenital pigmented nevus" xsd:string property_value: alternative:term "Giant congenital melanocytic nevus" xsd:string property_value: alternative:term "Giant pigmented hairy nevus" xsd:string property_value: alternative:term "GMN" xsd:string property_value: alternative:term "LCMN" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation." xsd:string [Term] id: Orphanet:627 name: Nance-Horan syndrome xref: ICD10:Q87.0 xref: MESH:C538336 xref: OMIM:302350 xref: SNOMED CT:445257004 xref: UMLS:C0796085 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit relationship: part_of Orphanet:98649 ! Dentocutaneous disease with cataract [Term] id: Orphanet:628 name: Diastrophic dwarfism xref: ICD10:Q77.5 xref: OMIM:222600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:364536 ! Primary bone dysplasia with micromelia relationship: part_of Orphanet:93423 ! Sulfation-related bone disorder property_value: alternative:term "Diastrophic dysplasia" xsd:string [Term] id: Orphanet:629 name: Short stature due to growth hormone qualitative anomaly xref: ICD10:E23.0 xref: OMIM:262650 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:631 ! Non-acquired isolated growth hormone deficiency property_value: alternative:term "Kowarski syndrome" xsd:string [Term] id: Orphanet:63 name: Alport syndrome xref: ICD10:Q87.8 xref: MEDDRA:10001843 xref: MESH:D009394 xref: OMIM:104200 xref: OMIM:203780 xref: OMIM:301050 xref: SNOMED CT:399340005 xref: UMLS:C1567741 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:93550 ! Basement membrane disease relationship: part_of Orphanet:98646 ! Renal disease with cataract relationship: part_of Orphanet:98655 ! Lens shape anomaly property_value: alternative:term "Alport deafness-nephropathy" xsd:string [Term] id: Orphanet:631 name: Non-acquired isolated growth hormone deficiency xref: ICD10:E23.0 xref: OMIM:173100 xref: OMIM:262400 xref: OMIM:262650 xref: OMIM:300123 xref: OMIM:307200 xref: OMIM:612781 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:95488 ! Nonacquired pituitary hormone deficiency property_value: alternative:term "Congenital IGHD" xsd:string property_value: alternative:term "Congenital isolated GH deficiency" xsd:string property_value: alternative:term "Congenital isolated growth hormone deficiency" xsd:string [Term] id: Orphanet:632 name: Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia xref: ICD10:D80.0 xref: ICD10:E23.0 xref: OMIM:307200 is_a: Orphanet:231692 ! Isolated growth hormone deficiency type III relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:229720 ! Syndromic agammaglobulinemia [Term] id: Orphanet:63259 name: Iniencephaly xref: ICD10:Q00.2 xref: MEDDRA:10022034 xref: SNOMED CT:2438005 xref: UMLS:C0152234 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:268357 ! Neural tube closure defect property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system." xsd:string [Term] id: Orphanet:63260 name: Craniorachischisis xref: ICD10:Q00.1 xref: MEDDRA:10011321 xref: SNOMED CT:32219008 xref: UMLS:C0152426 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:268357 ! Neural tube closure defect property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system." xsd:string [Term] id: Orphanet:63261 name: HERNS syndrome xref: ICD10:I67.3 xref: OMIM:192315 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183503 ! Genetic central nervous system and retinal vascular disease relationship: part_of Orphanet:247691 ! Retinal vasculopathy and cerebral leukodystrophy relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Hereditary endotheliopathy - retinopathy - nephropathy - stroke" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary endotheliopathy with retinopathy and stroke (HERNS) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by strokes, vision loss, pseudotumours, seizures, motor and sensory deficits, headaches and occasionally renal disease." xsd:string [Term] id: Orphanet:63269 name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_95699 with label: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency" xsd:string [Term] id: Orphanet:63273 name: Distal myopathy with posterior leg and anterior hand involvement xref: ICD10:G71.0 xref: OMIM:614065 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206650 ! Autosomal dominant distal myopathy property_value: alternative:term "Distal ABD-filaminopathy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs." xsd:string [Term] id: Orphanet:63275 name: Pemphigoid gestationis xref: ICD10:L12.8 xref: MEDDRA:10019939 xref: MESH:D006559 xref: SNOMED CT:86081009 xref: UMLS:C0019343 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:79669 ! Autoimmune bullous skin disease [Term] id: Orphanet:633 name: Laron syndrome xref: ICD10:E34.3 xref: MESH:D046150 xref: OMIM:262500 xref: SNOMED CT:38196001 xref: UMLS:C0271568 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:181393 ! Growth hormone insensitivity syndrome property_value: alternative:term "Complete growth hormone insensitivity" xsd:string property_value: alternative:term "GH receptor deficiency" xsd:string property_value: alternative:term "Growth hormone receptor deficiency" xsd:string property_value: alternative:term "Laron-type dwarfism" xsd:string property_value: alternative:term "Primary GH insensitivity" xsd:string property_value: alternative:term "Primary GH resistance" xsd:string property_value: alternative:term "Primary growth hormone insensitivity" xsd:string property_value: alternative:term "Primary growth hormone resistance" xsd:string property_value: alternative:term "Short stature due to growth hormone resistance" xsd:string [Term] id: Orphanet:634 name: Netherton syndrome xref: ICD10:L67.0 xref: ICD10:Q80.8 xref: OMIM:256500 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:281222 ! Autosomal ichthyosis syndrome with prominent hair abnormalities relationship: part_of Orphanet:98599 ! Eyebrow/eyelashes structural anomaly relationship: part_of Orphanet:98698 ! Ichthyosis associated with ocular features property_value: alternative:term "Bamboo hair syndrome" xsd:string property_value: alternative:term "Comèl-Netherton syndrome" xsd:string property_value: alternative:term "NS" xsd:string [Term] id: Orphanet:63440 name: Isolated oxycephaly xref: ICD10:Q75.0 xref: OMIM:123100 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139390 ! Isolated craniosynostosis relationship: part_of Orphanet:98684 ! Craniostenosis associated with a strabismus property_value: alternative:term "Non-syndromic oxycephaly" xsd:string property_value: alternative:term "Turricephaly" xsd:string [Term] id: Orphanet:63442 name: Angel-shaped phalango-epiphyseal dysplasia xref: ICD10:Q78.8 xref: MEDDRA:10066017 xref: OMIM:105835 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93436 ! Acromelic dysplasia property_value: alternative:term "ASPED" xsd:string [Term] id: Orphanet:63443 name: Gastric cancer xref: ICD10:C16 xref: MEDDRA:10017758 xref: OMIM:613659 is_a: Orphanet:180821 ! Gastro-esophageal tumor relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 property_value: alternative:term "Stomach cancer" xsd:string [Term] id: Orphanet:63446 name: Acrocapitofemoral dysplasia xref: ICD10:Q78.8 xref: OMIM:607778 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93436 ! Acromelic dysplasia [Term] id: Orphanet:63454 name: Patterned dystrophy of the retinal pigment epithelium xref: ICD10:H35.5 is_a: Orphanet:98664 ! Genetic macular dystrophy [Term] id: Orphanet:63455 name: Paraneoplastic pemphigus xref: ICD10:L10.8 xref: MEDDRA:10057056 xref: UMLS:C1112570 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79669 ! Autoimmune bullous skin disease [Term] id: Orphanet:635 name: Neuroblastoma xref: ICD10:C47 xref: MEDDRA:10029260 xref: MESH:C536408 xref: MESH:D009447 xref: OMIM:256700 xref: OMIM:613013 xref: OMIM:613014 xref: OMIM:613015 xref: OMIM:613016 xref: OMIM:613017 xref: SNOMED CT:432328008 xref: SNOMED CT:87364003 xref: UMLS:C0027819 xref: UMLS:C2931189 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:251870 ! Central nervous system primitive neuroectodermal tumor property_value: alternative:term "Neural crest tumor" xsd:string property_value: alternative:term "Sympathoblastoma" xsd:string [Term] id: Orphanet:636 name: Neurofibromatosis type 1 xref: ICD10:Q85.0 xref: MEDDRA:10047712 xref: MESH:C538607 xref: MESH:D009456 xref: OMIM:162200 xref: OMIM:162210 xref: OMIM:613675 xref: SNOMED CT:92824003 xref: UMLS:C0027831 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:156629 ! Genetic hypertension relationship: part_of Orphanet:166466 ! Neurocutaneous syndrome with epilepsy relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:252190 ! Inherited nervous system cancer-predisposing syndrome relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis relationship: part_of Orphanet:98701 ! Phakomatosis with eye involvement property_value: alternative:term "Neurofibromatosis 1" xsd:string property_value: alternative:term "NF1" xsd:string property_value: alternative:term "Von Recklinghausen disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas." xsd:string [Term] id: Orphanet:637 name: Neurofibromatosis type 2 xref: ICD10:Q85.0 xref: MEDDRA:10000523 xref: MEDDRA:10029271 xref: MESH:D009464 xref: MESH:D016518 xref: OMIM:101000 xref: SNOMED CT:126949007 xref: SNOMED CT:92503002 xref: UMLS:C0027832 xref: UMLS:C0027859 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:252190 ! Inherited nervous system cancer-predisposing syndrome relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Familial acoustic neurinoma" xsd:string property_value: alternative:term "Familial acoustic neuroma" xsd:string property_value: alternative:term "Familial vestibular schwannoma" xsd:string property_value: alternative:term "NF2" xsd:string [Term] id: Orphanet:638 name: Neurofibromatosis - Noonan syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_648 with label: Noonan syndrome" xsd:string [Term] id: Orphanet:63862 name: Schisis association xref: ICD10:Q87.8 xref: MESH:C536633 xref: UMLS:C2931271 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature [Term] id: Orphanet:639 name: Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG xref: ICD10:G61.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182064 ! Rare neuroinflammatory or neuroimmunological disease relationship: part_of Orphanet:208974 ! Chronic acquired demyelinating polyneuropathy relationship: part_of Orphanet:209010 ! Peripheral neuropathy associated with monoclonal gammopathy [Term] id: Orphanet:63999 name: Mediastinal fibrosis xref: ICD10:J98.5 xref: MEDDRA:10027074 xref: MESH:C536136 xref: SNOMED CT:21247003 xref: SNOMED CT:361196000 xref: SNOMED CT:7377003 xref: UMLS:C0221386 xref: UMLS:C0264573 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:97955 ! Rare respiratory disease property_value: alternative:term "Fibrosing mediastinitis" xsd:string property_value: alternative:term "Sclerosing mediastinitis" xsd:string [Term] id: Orphanet:64 name: Alström syndrome xref: ICD10:E66.0 xref: ICD10:H35.5 xref: MEDDRA:10068783 xref: MESH:D056769 xref: OMIM:203800 xref: SNOMED CT:63702009 xref: UMLS:C0268425 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:181376 ! Rare insulin-independent diabetes mellitus relationship: part_of Orphanet:183625 ! Rare genetic diabetes mellitus relationship: part_of Orphanet:217619 ! Syndrome associated with dilated cardiomyopathy relationship: part_of Orphanet:240371 ! Syndromic obesity relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa [Term] id: Orphanet:640 name: Hereditary neuropathy with liability to pressure palsies xref: ICD10:G60.0 xref: MEDDRA:10069382 xref: OMIM:162500 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:140453 ! Autosomal dominant hereditary demyelinating motor and sensory neuropathy relationship: part_of Orphanet:261965 ! Partial monosomy of the short arm of chromosome 17 property_value: alternative:term "Current pressure-sensitive neuropathy" xsd:string property_value: alternative:term "Heterozygous microdeletion 17p11.2p12" xsd:string property_value: alternative:term "HNPP" xsd:string property_value: alternative:term "Potato-grubbing palsy" xsd:string property_value: alternative:term "Tomaculous neuropathy" xsd:string property_value: alternative:term "Tulip-bulb digger's palsy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities." xsd:string [Term] id: Orphanet:641 name: Multifocal motor neuropathy with conduction block xref: ICD10:G61.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:208974 ! Chronic acquired demyelinating polyneuropathy [Term] id: Orphanet:642 name: Hereditary sensory and autonomic neuropathy type 4 xref: ICD10:G60.8 xref: OMIM:256800 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:140477 ! Autosomal recessive hereditary sensory and autonomic neuropathy property_value: alternative:term "HSAN4" xsd:string property_value: alternative:term "Insensitivity to pain - anhidrosis" xsd:string property_value: alternative:term "NHSA4" xsd:string [Term] id: Orphanet:64280 name: Childhood absence epilepsy xref: ICD10:G40.3 xref: OMIM:600131 xref: OMIM:607681 xref: OMIM:611942 xref: OMIM:612269 xref: SNOMED CT:50866000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:309 ! Familial partial epilepsy property_value: alternative:term "Pyknolepsy" xsd:string [Term] id: Orphanet:643 name: Giant axonal neuropathy xref: ICD10:G60.8 xref: MESH:D056768 xref: OMIM:256850 xref: SNOMED CT:128207002 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98497 ! Genetic peripheral neuropathy [Term] id: Orphanet:644 name: NARP syndrome xref: ICD10:G31.8 xref: OMIM:551500 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:225700 ! Mitochondrial disease with epilepsy relationship: part_of Orphanet:225703 ! Mitochondrial disease with peripheral neuropathy relationship: part_of Orphanet:254776 ! Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:98695 ! Mitochondrial disease with eye involvement relationship: part_of Orphanet:98713 ! Metabolic disease with pigmentary retinitis property_value: alternative:term "Neurogenic muscle weakness - ataxia - retinitis pigmentosa" xsd:string property_value: alternative:term "Neuropathy - ataxia - retinitis pigmentosa" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." xsd:string [Term] id: Orphanet:64542 name: Acrofacial dysostosis, Kennedy-Teebi type xref: ICD10:Q75.4 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:364574 ! Acrofacial dysostosis property_value: alternative:term "Kennedy-Teebi syndrome" xsd:string [Term] id: Orphanet:64545 name: Benign idiopathic neonatal seizures xref: ICD10:G40.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98257 ! Neonatal epilepsy syndrome [Term] id: Orphanet:646 name: Niemann-Pick disease type C xref: ICD10:E75.2 xref: MESH:D052556 xref: OMIM:257220 xref: OMIM:607625 xref: SNOMED CT:66751000 xref: UMLS:C0220756 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:264968 ! Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease relationship: part_of Orphanet:371442 ! Sphingolipidosis with epilepsy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79204 ! Lipid storage disease relationship: part_of Orphanet:98544 ! Cerebral lipidosis with dementia relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy relationship: part_of Orphanet:98687 ! Supranuclear oculomotor palsy [Term] id: Orphanet:64686 name: Tolosa-Hunt syndrome xref: ICD10:H49.3 xref: MEDDRA:10051526 xref: MESH:C531833 xref: MESH:D020333 xref: SNOMED CT:75111000 xref: SNOMED CT:95794005 xref: UMLS:C0040381 xref: UMLS:C0392060 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98681 ! Rare strabismus and restriction syndrome property_value: alternative:term "Painful ophthalmoplegia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others." xsd:string [Term] id: Orphanet:64692 name: Oroya fever xref: ICD10:A44.0 xref: MESH:D001474 xref: SNOMED CT:186825001 xref: SNOMED CT:240453002 xref: SNOMED CT:262461007 xref: UMLS:C0029307 xref: UMLS:C0348974 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease property_value: alternative:term "Bartonellosis due to Bartonella bacilliformis infection" xsd:string property_value: alternative:term "Carrion disease" xsd:string [Term] id: Orphanet:64694 name: Trench fever xref: ICD10:A79.0 xref: MEDDRA:10044582 xref: MESH:D014205 xref: SNOMED CT:82214002 xref: UMLS:C0040830 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease property_value: alternative:term "Bartonellosis due to Bartonella quintana infection" xsd:string [Term] id: Orphanet:647 name: Nijmegen breakage syndrome xref: MEDDRA:10067857 xref: MESH:C531759 xref: MESH:D049932 xref: OMIM:251260 xref: SNOMED CT:234638009 xref: UMLS:C0398791 xref: UMLS:C2930831 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:169346 ! DNA repair defect other than combined T-cell and B-cell immunodeficiencies relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "AT V1" xsd:string property_value: alternative:term "Ataxia-telangiectasia, variant 1" xsd:string property_value: alternative:term "Berlin breakage syndrome" xsd:string property_value: alternative:term "Immunodeficiency - microcephaly - chromosomal instability" xsd:string property_value: alternative:term "Microcephaly - immunodeficiency - lymphoreticuloma" xsd:string property_value: alternative:term "NBS" xsd:string property_value: alternative:term "Seemanova syndrome type 2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections." xsd:string [Term] id: Orphanet:64720 name: Leiomyosarcoma xref: MEDDRA:10024189 xref: MESH:D007890 xref: SNOMED CT:443719001 xref: SNOMED CT:51549004 xref: UMLS:C0023269 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:289656 ! Epstein-Barr Virus-associated mesenchymal tumor relationship: part_of Orphanet:3394 ! Soft tissue sarcoma [Term] id: Orphanet:64722 name: Granulomatous mastitis xref: ICD10:N61 xref: MESH:D058890 xref: SNOMED CT:237444008 xref: UMLS:C0405469 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:180202 ! Rare non-malformative breast disease property_value: alternative:term "Idiopathic granulomatous mastitis" xsd:string [Term] id: Orphanet:64734 name: Iridocorneal endothelial syndrome xref: ICD10:H21.1 xref: MEDDRA:10053678 xref: MESH:D057129 xref: SNOMED CT:129623003 xref: SNOMED CT:231936006 xref: UMLS:C0339285 xref: UMLS:C1096100 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101949 ! Rare acquired eye disease relationship: part_of Orphanet:98637 ! Secondary glaucoma due to a proliferation and differentiation anomaly property_value: alternative:term "ICE syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Iridocorneal endothelial (ICE) syndrome describes a group of progressive corneal proliferative endotheliopathies comprised of Chandler’s syndrome, Cogan-Reese syndrome and essential iris atrophy (see these terms), affecting mainly young adult females and characterized by iris holes and atrophy, papillary distortion, anterior synechiae, corneal edema and often with secondary glaucoma and corneal decompensation as complications" xsd:string [Term] id: Orphanet:64739 name: Ovarian hyperstimulation syndrome xref: ICD10:N98.1 xref: MEDDRA:10033266 xref: MESH:D016471 xref: OMIM:608115 xref: SNOMED CT:129635004 xref: UMLS:C0085083 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:180303 ! Rare non-malformative uterine adnexal disease relationship: part_of Orphanet:183731 ! Rare genetic gynecological and obstetrical diseases property_value: alternative:term "OHSS" xsd:string [Term] id: Orphanet:64740 name: Recurrent acute pancreatitis xref: ICD10:K85 xref: SNOMED CT:197458008 xref: UMLS:C0267937 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:101937 ! Rare pancreatic disease [Term] id: Orphanet:64741 name: Pulmonary blastoma xref: ICD10:C34 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101945 ! Rare bronchopulmonary tumor property_value: alternative:term "Pneumoblastoma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pulmonary blastoma (PB) is a biphasic primary lung neoplasm, belonging to the group of sarcomatoid lung carcinomas (SLCs; see this term). The tumor contains both an epithelial well-differentiated component, showing tubular architecture resembling the normal fetal lung, and a mesenchymal undifferentiated stroma with a so-called ''blastema-like'' configuration that resembles an embryonic lung." xsd:string [Term] id: Orphanet:64742 name: Pleuropulmonary blastoma xref: ICD10:C34 xref: OMIM:601200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101945 ! Rare bronchopulmonary tumor [Term] id: Orphanet:64743 name: Hepatoportal sclerosis xref: ICD10:K74.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101938 ! Rare vascular liver disease property_value: alternative:term "Obliterative portal venopathy" xsd:string [Term] id: Orphanet:64744 name: Riedel thyroiditis xref: ICD10:E06.5 xref: MEDDRA:10039142 xref: SNOMED CT:89024000 xref: UMLS:C0154162 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:177101 ! Rare adult hypothyroidism [Term] id: Orphanet:64745 name: Pruritic urticarial papules and plaques of pregnancy xref: ICD10:O26.8 xref: MEDDRA:10066100 xref: MESH:C535817 xref: OMIM:178995 xref: SNOMED CT:88697005 xref: UMLS:C0269680 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163637 ! Rare disorder related with pregnancy, childbirth and puerperium relationship: part_of Orphanet:79384 ! Rare urticaria property_value: alternative:term "Polymorphic eruption of pregnancy" xsd:string [Term] id: Orphanet:64746 name: Autosomal dominant Charcot-Marie-Tooth disease type 2 xref: ICD10:G60.0 is_a: Orphanet:140456 ! Autosomal dominant hereditary axonal motor and sensory neuropathy is_a: Orphanet:166 ! Charcot-Marie-Tooth disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 property_value: alternative:term "Autosomal dominant axonal Charcot-Marie-Tooth disease" xsd:string property_value: alternative:term "CMT2" xsd:string property_value: alternative:term "Hereditarymotor and sensoryneuropathy type 2" xsd:string [Term] id: Orphanet:64747 name: X-linked Charcot-Marie-Tooth disease xref: ICD10:G60.0 is_a: Orphanet:166 ! Charcot-Marie-Tooth disease is_a: Orphanet:90642 ! Syndromic genetic deafness is_a: Orphanet:98464 ! X-linked syndromic intellectual deficit relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "CMTX" xsd:string [Term] id: Orphanet:64748 name: Dejerine-Sottas syndrome xref: ICD10:G60.0 xref: MESH:C538392 xref: OMIM:145900 xref: SNOMED CT:111499002 xref: UMLS:C0011195 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:140450 ! Hereditary motor and sensory neuropathy property_value: alternative:term "Charcot-Marie-Tooth disease type 3" xsd:string property_value: alternative:term "Hereditary motor and sensory neuropathy type 3" xsd:string property_value: alternative:term "HMSN 3" xsd:string property_value: alternative:term "Hypertrophic neuropathy of infancy" xsd:string [Term] id: Orphanet:64749 name: Charcot-Marie-Tooth disease type 4 xref: ICD10:G60.0 is_a: Orphanet:140459 ! Autosomal recessive hereditary demyelinating motor and sensory neuropathy is_a: Orphanet:166 ! Charcot-Marie-Tooth disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 property_value: alternative:term "AR-CMT1" xsd:string property_value: alternative:term "Autosomal recessive demyelinating Charcot-Marie-Tooth" xsd:string property_value: alternative:term "CMT4" xsd:string [Term] id: Orphanet:64751 name: Hereditary motor and sensory neuropathy type 5 xref: ICD10:G60.0 xref: OMIM:600361 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:140456 ! Autosomal dominant hereditary axonal motor and sensory neuropathy property_value: alternative:term "Charcot-Marie-Tooth disease - pyramidal features" xsd:string property_value: alternative:term "HMSN 5" xsd:string [Term] id: Orphanet:64752 name: Hereditary sensory and autonomic neuropathy type 5 xref: ICD10:G60.8 xref: MESH:D000699 xref: OMIM:608654 xref: SNOMED CT:128206006 xref: SNOMED CT:403605007 xref: UMLS:C0002768 xref: UMLS:C0020075 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:140477 ! Autosomal recessive hereditary sensory and autonomic neuropathy property_value: alternative:term "Congenital insensitivity to pain and thermal analgesia" xsd:string property_value: alternative:term "HSAN5" xsd:string property_value: alternative:term "NHSA5" xsd:string [Term] id: Orphanet:64753 name: Spinocerebellar ataxia with axonal neuropathy type 2 xref: ICD10:G60.2 xref: OMIM:606002 xref: OMIM:615217 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:98097 ! Autosomal recessive cerebellar ataxia due to a DNA repair defect relationship: part_of Orphanet:98497 ! Genetic peripheral neuropathy relationship: part_of Orphanet:98688 ! Oculomotor apraxia or related oculomotor disease property_value: alternative:term "AOA2" xsd:string property_value: alternative:term "Ataxia - oculomotor apraxia type 2" xsd:string property_value: alternative:term "SCAN 2" xsd:string property_value: alternative:term "SCAR1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spinocerebellar ataxia with axonal neuropathy type 2 or ataxia-oculomotor apraxia type 2 (AOA2) is a form of autosomal recessive cerebellar ataxia (ARCA; see this term) characterized by progressive cerebellar ataxia, axonal sensorimotor neuropathy with oculomotor apraxia, fixation instability, extrapyramidal features and an elevated serum alpha-fetoprotein level." xsd:string [Term] id: Orphanet:64754 name: Nevus comedonicus syndrome xref: ICD10:Q82.5 xref: SNOMED CT:35962006 xref: UMLS:C0265987 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:294057 ! Rare nevus [Term] id: Orphanet:64755 name: Becker nevus syndrome xref: ICD10:D22.5 xref: OMIM:604919 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:180173 ! Deficient breast volume or number relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:294057 ! Rare nevus relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis property_value: alternative:term "Pigmentary hairy epidermal nevus" xsd:string [Term] id: Orphanet:648 name: Noonan syndrome xref: ICD10:Q87.1 xref: MEDDRA:10029748 xref: MESH:D009634 xref: OMIM:163950 xref: OMIM:605275 xref: OMIM:609942 xref: OMIM:610733 xref: OMIM:611553 xref: OMIM:613224 xref: OMIM:613706 xref: OMIM:615355 xref: SNOMED CT:205684007 xref: SNOMED CT:205824006 xref: UMLS:C0028326 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:89832 ! Syndromic lymphedema relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:98576 ! Malposition of external canthus relationship: part_of Orphanet:98578 ! Ptosis relationship: part_of Orphanet:98733 ! Noonan syndrome and Noonan-related syndrome [Term] id: Orphanet:649 name: Norrie disease xref: ICD10:H35.5 xref: MEDDRA:10069760 xref: MESH:C537849 xref: OMIM:310600 xref: UMLS:C0266526 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit relationship: part_of Orphanet:98641 ! Syndromic cataract relationship: part_of Orphanet:98669 ! Congenital vitreoretinal dysplasia property_value: alternative:term "Atrophia bulborum hereditaria" xsd:string property_value: alternative:term "Episkopi blindness" xsd:string property_value: alternative:term "Norrie-Warburg disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual deficit and/or behavioral disorders." xsd:string [Term] id: Orphanet:65 name: Leber congenital amaurosis xref: ICD10:H35.5 xref: MESH:D057130 xref: OMIM:179900 xref: OMIM:204000 xref: OMIM:204100 xref: OMIM:604232 xref: OMIM:604393 xref: OMIM:604537 xref: OMIM:608553 xref: OMIM:610612 xref: OMIM:611755 xref: OMIM:612712 xref: OMIM:613341 xref: OMIM:613826 xref: OMIM:613829 xref: OMIM:613835 xref: OMIM:613837 xref: OMIM:613843 xref: OMIM:614186 xref: OMIM:615360 xref: SNOMED CT:193413001 xref: UMLS:C0339527 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98622 ! Syndromic hyperopia relationship: part_of Orphanet:98623 ! Syndromic keratoconus relationship: part_of Orphanet:98657 ! Genetic vitreous-retinal disease relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy property_value: alternative:term "Amaurosis congenita of Leber" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness, nystagmus, roving eye movement and lack of detectable signals on an electroretinogram (ERG), leading to severe visual impairment within the first year of life." xsd:string [Term] id: Orphanet:650 name: LCAT deficiency xref: ICD10:E78.6 xref: OMIM:136120 xref: OMIM:245900 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:31153 ! Hypoalphalipoproteinemia relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease relationship: part_of Orphanet:98711 ! Metabolic disease with corneal opacity property_value: alternative:term "Lecithin-cholesterol acyltransferase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol." xsd:string [Term] id: Orphanet:652 name: Multiple endocrine neoplasia type 1 xref: ICD10:D44.8 xref: MEDDRA:10028190 xref: MESH:D018761 xref: OMIM:131100 xref: SNOMED CT:30664006 xref: UMLS:C0025267 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:100090 ! Rare parathyroid tumor relationship: part_of Orphanet:100091 ! Adrenal/paraganglial tumor relationship: part_of Orphanet:104011 ! Intestinal tumor relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:181408 ! Rare hyperparathyroidism relationship: part_of Orphanet:208596 ! Genetic hyperparathyroidism relationship: part_of Orphanet:2207 ! Familial primary hyperparathyroidism relationship: part_of Orphanet:276161 ! Multiple endocrine neoplasia relationship: part_of Orphanet:314749 ! Rare disease with Cushing syndrome as a major feature property_value: alternative:term "MEN 1" xsd:string property_value: alternative:term "Wermer syndrome" xsd:string [Term] id: Orphanet:65279 name: Lymphocytic colitis xref: ICD10:K52.8 xref: MEDDRA:10025268 xref: MESH:D046730 xref: SNOMED CT:31437008 xref: UMLS:C0400822 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:58220 ! Microscopic colitis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Lymphocytic colitis is an intestinal inflammatory disorder characterized by increased intraepithelial lymphocytes and manifesting as chronic watery diarrhea, abdominal pain, nausea, incontinence and fecal urgency. Together with collagenous colitis (see this term) it makes up a group known as microscopic colitis (see this term)." xsd:string [Term] id: Orphanet:65282 name: Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome xref: OMIM:605676 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:217619 ! Syndrome associated with dilated cardiomyopathy relationship: part_of Orphanet:98357 ! Autosomal recessive disease with focal palmoplantar keratoderma as a major feature property_value: alternative:term "Carvajal syndrome" xsd:string property_value: alternative:term "Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome" xsd:string property_value: alternative:term "Wooly hair - palmoplantar keratoderma - dilated cardiomyopathy" xsd:string property_value: alternative:term "Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome" xsd:string [Term] id: Orphanet:65283 name: Timothy syndrome xref: ICD10:I45.8 xref: MESH:C536962 xref: OMIM:601005 xref: UMLS:C1832916 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:768 ! Familial long QT syndrome property_value: alternative:term "Long QT syndrome - syndactyly" xsd:string property_value: alternative:term "Long QT syndrome type 8" xsd:string property_value: alternative:term "LQT8" xsd:string [Term] id: Orphanet:65284 name: Biotin-responsive basal ganglia disease xref: ICD10:G25.8 xref: MESH:C537658 xref: OMIM:607483 xref: UMLS:C1843807 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:298644 ! Disorder of thiamin metabolism and transport relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "BBGD" xsd:string property_value: alternative:term "Biotin-thiamine-responsive basal ganglia disease" xsd:string property_value: alternative:term "BTBGD" xsd:string [Term] id: Orphanet:65285 name: Lhermitte-Duclos disease xref: ICD10:Q04.8 xref: OMIM:158350 xref: SNOMED CT:128791005 xref: SNOMED CT:67944007 xref: UMLS:C0391826 xref: UMLS:C1266181 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:251934 ! Mixed neuronal-glial tumor relationship: part_of Orphanet:269523 ! Syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:269567 ! Genetic syndrome with a cerebellar malformation as major feature property_value: alternative:term "Dysplastic gangliocytoma of the cerebellum" xsd:string property_value: alternative:term "LDD" xsd:string [Term] id: Orphanet:65286 name: 3q29 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:609425 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:262019 ! Partial deletion of the long arm of chromosome 3 property_value: alternative:term "3q subtelomere deletion syndrome" xsd:string property_value: alternative:term "3qter deletion" xsd:string property_value: alternative:term "Del(3)(q29)" xsd:string property_value: alternative:term "Monosomy 3q29" xsd:string property_value: alternative:term "Monosomy 3qter" xsd:string [Term] id: Orphanet:65287 name: Beta-ureidopropionase deficiency xref: ICD10:E79.8 xref: OMIM:613161 xref: SNOMED CT:124511000 xref: UMLS:C1291512 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:225707 ! Metabolic neurotransmission anomaly with epilepsy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79193 ! Disorder of pyrimidine metabolism property_value: alternative:term "Beta-alanine synthase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal)." xsd:string [Term] id: Orphanet:65288 name: Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis xref: OMIM:609069 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:224 ! Neonatal diabetes mellitus relationship: part_of Orphanet:269523 ! Syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:269567 ! Genetic syndrome with a cerebellar malformation as major feature property_value: alternative:term "Pancreatic and cerebellar agenesis" xsd:string [Term] id: Orphanet:653 name: Multiple endocrine neoplasia type 2 xref: ICD10:D44.8 xref: OMIM:155240 xref: OMIM:162300 xref: OMIM:171400 xref: SNOMED CT:61808009 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:100088 ! Thyroid carcinoma relationship: part_of Orphanet:104011 ! Intestinal tumor relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:276161 ! Multiple endocrine neoplasia property_value: alternative:term "MEN2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Multiple endocrine neoplasia type 2 (MEN2) is a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms) and, in one variant, primary hyperparathyroidism (PHPT)." xsd:string [Term] id: Orphanet:654 name: Nephroblastoma xref: ICD10:C64 xref: MEDDRA:10029145 xref: MESH:D009396 xref: OMIM:194070 xref: OMIM:194071 xref: OMIM:194090 xref: OMIM:601363 xref: OMIM:601583 xref: SNOMED CT:25081006 xref: SNOMED CT:302849000 xref: UMLS:C0027708 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:183595 ! Genetic renal tumor property_value: alternative:term "Renal embryonic tumor" xsd:string property_value: alternative:term "Wilms tumor" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor." xsd:string [Term] id: Orphanet:655 name: Autosomal recessive medullary cystic kidney disease xref: ICD10:Q61.5 xref: OMIM:256100 xref: OMIM:602088 xref: OMIM:604387 xref: OMIM:606966 xref: OMIM:611498 xref: OMIM:613159 xref: OMIM:613820 xref: OMIM:613824 xref: OMIM:614377 xref: OMIM:614817 xref: OMIM:615382 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:93587 ! Familial cystic renal disease property_value: alternative:term "Autosomal recessive nephronophthisis" xsd:string [Term] id: Orphanet:656 name: Familial idiopathic steroid-resistant nephrotic syndrome xref: ICD10:N04 xref: OMIM:256370 xref: OMIM:600995 xref: OMIM:603278 xref: OMIM:603965 xref: OMIM:607832 xref: OMIM:610725 xref: OMIM:612551 xref: OMIM:613237 xref: OMIM:614131 xref: OMIM:614196 xref: OMIM:615244 xref: OMIM:615573 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102373 ! Primary glomerular disease relationship: part_of Orphanet:357502 ! Idiopathic nephrotic syndrome property_value: alternative:term "Familial idiopathic nephrotic syndrome" xsd:string [Term] id: Orphanet:65681 name: Vaginal atresia xref: ICD10:Q52.0 xref: MEDDRA:10046879 xref: SNOMED CT:87380008 xref: UMLS:C1321884 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:180151 ! Rare vaginal malformation [Term] id: Orphanet:65682 name: Benign recurrent intrahepatic cholestasis xref: ICD10:K83.1 xref: OMIM:243300 xref: OMIM:605479 xref: SNOMED CT:31155007 xref: UMLS:C0149841 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:284385 ! Familial intrahepatic cholestasis relationship: part_of Orphanet:309816 ! Disorder of bilirubin metabolism and excretion property_value: alternative:term "BRIC" xsd:string property_value: alternative:term "Summerskill-Walshe-Tygstrup syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC; see this term)." xsd:string [Term] id: Orphanet:65683 name: Isolated focal cortical dysplasia xref: ICD10:Q04.8 xref: OMIM:607341 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:268950 ! Cerebral cortical dysplasia property_value: alternative:term "Cortical dysplasia, Taylor type" xsd:string property_value: alternative:term "Epilepsy due to FCD" xsd:string [Term] id: Orphanet:65684 name: Monomelic amyotrophy xref: ICD10:G12.8 xref: MEDDRA:10069681 xref: MESH:C538253 xref: OMIM:602440 xref: UMLS:C1865384 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98506 ! Acquired motor neuron disease property_value: alternative:term "Benign focal amyotrophy" xsd:string property_value: alternative:term "Hirayama disease" xsd:string property_value: alternative:term "JMADUE" xsd:string property_value: alternative:term "Juvenile muscular atrophy of distal upper extremity" xsd:string property_value: alternative:term "Juvenile muscular atrophy of the distal upper limb" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms." xsd:string [Term] id: Orphanet:657 name: Congenital isolated hyperinsulinism xref: ICD10:E16.1 xref: MESH:D044903 xref: SNOMED CT:360337007 xref: SNOMED CT:360339005 xref: UMLS:C1257959 is_a: Orphanet:276525 ! Familial hyperinsulinism is_a: Orphanet:93460 ! Overgrowth syndrome property_value: alternative:term "CHI" xsd:string property_value: alternative:term "Persistent hyperinsulinemic hypoglycemia of infancy" xsd:string property_value: alternative:term "PHHI" xsd:string [Term] id: Orphanet:65720 name: Arthrogryposis - severe scoliosis xref: OMIM:609128 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:97120 ! Distal arthrogryposis property_value: alternative:term "Distal arthrogryposis type 4" xsd:string property_value: alternative:term "Distal arthrogryposis type IID" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal." xsd:string [Term] id: Orphanet:65743 name: Autosomal dominant multiple pterygium syndrome xref: ICD10:Q79.8 xref: OMIM:178110 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183472 ! Genetic dermis disorder relationship: part_of Orphanet:294060 ! Multiple pterygium syndrome property_value: alternative:term "Distal arthrogryposis type 8" xsd:string [Term] id: Orphanet:65748 name: Multiple keratoacanthoma, Ferguson-Smith type xref: ICD10:D23 xref: OMIM:132800 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma relationship: part_of Orphanet:98582 ! Benign tumor of palpebral epidermis property_value: alternative:term "ESS1" xsd:string property_value: alternative:term "MSSE" xsd:string property_value: alternative:term "Multiple self-healing squamous epithelioma" xsd:string property_value: alternative:term "Self-healing squamous epithelioma type 1" xsd:string [Term] id: Orphanet:65753 name: Charcot-Marie-Tooth disease type 1 xref: ICD10:G60.0 is_a: Orphanet:140453 ! Autosomal dominant hereditary demyelinating motor and sensory neuropathy is_a: Orphanet:166 ! Charcot-Marie-Tooth disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 property_value: alternative:term "Autosomal dominant demyelinating Charcot-Marie-Tooth disease" xsd:string property_value: alternative:term "CMT1" xsd:string property_value: alternative:term "Hereditary motor and sensory neuropathy type 1" xsd:string [Term] id: Orphanet:65759 name: Carpenter syndrome xref: ICD10:Q87.0 xref: OMIM:201000 xref: OMIM:614976 xref: SNOMED CT:205813009 xref: SNOMED CT:403767009 xref: UMLS:C1275078 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "ACPS 2" xsd:string property_value: alternative:term "Acrocephalopolysyndactyly type 2" xsd:string [Term] id: Orphanet:65798 name: Goodman syndrome xref: ICD10:Q87.0 xref: OMIM:201020 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "ACPS 4" xsd:string property_value: alternative:term "Acrocephalopolysyndactyly type 4" xsd:string [Term] id: Orphanet:658 name: Non-histaminic angioedema is_a: Orphanet:98023 ! Rare systemic or rheumatologic disease is_a: Orphanet:98050 ! Rare allergic disease property_value: alternative:term "Angioneurotic edema" xsd:string property_value: alternative:term "Bradykinine-induced angioedema" xsd:string property_value: alternative:term "Non histamine-induced angioedema" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." xsd:string [Term] id: Orphanet:659 name: Mutilating palmoplantar keratoderma with periorificial keratotic plaques xref: ICD10:Q82.8 xref: MEDDRA:10068842 xref: OMIM:614594 xref: UMLS:C2609071 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:307773 ! Autosomal dominant diffuse mutilating palmoplantar keratoderma property_value: alternative:term "Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques" xsd:string property_value: alternative:term "Olmsted syndrome" xsd:string property_value: alternative:term "Palmoplantar and periorificial keratoderma" xsd:string [Term] id: Orphanet:660 name: Omphalocele xref: ICD10:Q79.2 xref: MEDDRA:10030308 xref: OMIM:164750 xref: OMIM:310980 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:108977 ! Nonsyndromic diaphragmatic or abdominal wall malformation [Term] id: Orphanet:661 name: Ondine syndrome xref: ICD10:G47.3 xref: OMIM:209880 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:71859 ! Rare genetic neurological disease relationship: part_of Orphanet:98006 ! Rare neurologic disease property_value: alternative:term "CCHS" xsd:string property_value: alternative:term "Central congenital hypoventilation syndrome" xsd:string property_value: alternative:term "Congenital central alveolar hypoventilation syndrome" xsd:string property_value: alternative:term "Ondine curse" xsd:string [Term] id: Orphanet:662 name: Yellow nail syndrome xref: ICD10:L60.5 xref: OMIM:153300 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:264683 ! Primary interstitial lung disease specific to childhood due to alveolar vascular disorder relationship: part_of Orphanet:264992 ! Genetic interstitial lung disease relationship: part_of Orphanet:79370 ! Syndromic nail anomaly relationship: part_of Orphanet:89832 ! Syndromic lymphedema property_value: alternative:term "Lymphedema with yellow nails" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Yellow nail syndrome (YNS) is a very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema." xsd:string [Term] id: Orphanet:663 name: Maternally-inherited progressive external ophthalmoplegia xref: ICD10:H49.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206966 ! Mitochondrial myopathy relationship: part_of Orphanet:254767 ! Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA relationship: part_of Orphanet:98578 ! Ptosis relationship: part_of Orphanet:98683 ! Syndrome with a symptomatic strabismus relationship: part_of Orphanet:98695 ! Mitochondrial disease with eye involvement property_value: alternative:term "Maternally-inherited chronic progressive external ophthalmoplegia" xsd:string property_value: alternative:term "Maternally-inherited CPEO" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Progressive external ophthalmoplegia is characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid in adults. It may be totally and permanently isolated, or be associated with skeletal myopathy." xsd:string [Term] id: Orphanet:664 name: Ornithine transcarbamylase deficiency xref: ICD10:E72.2 xref: MEDDRA:10052450 xref: MESH:D020163 xref: OMIM:311250 xref: SNOMED CT:80908008 xref: UMLS:C0268542 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:182076 ! Syndromic neurometabolic disease with X-linked intellectual deficit relationship: part_of Orphanet:79167 ! Disorder of urea cycle metabolism and ammonia detoxification property_value: alternative:term "OCT deficiency" xsd:string property_value: alternative:term "Ornithine carbamoyltransferase deficiency" xsd:string property_value: alternative:term "OTC deficency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Ornithine carbamyl transferase deficiency is a disorder or urea cycle metabolism which clinical presentaton depends on the amount of residual enzyme activity, ranging from very severe neonatal hyperammonemic coma in males with no enzyme activity, to juvenile or adult hyperammonemic coma in males with residual enzyme activity. Females can be either asymptomatic or present with dislike for proteins to chronic vomiting, growth retardation, hypotonia, psychomotor retardation, hyperammonemic coma, or psychiatric disorders." xsd:string [Term] id: Orphanet:665 name: Albright hereditary osteodystrophy xref: ICD10:E20.1 xref: ICD10:Q78.1 xref: MESH:C537045 xref: OMIM:103580 xref: OMIM:612462 xref: OMIM:612463 xref: SNOMED CT:58833000 xref: UMLS:C2931404 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183472 ! Genetic dermis disorder relationship: part_of Orphanet:240371 ! Syndromic obesity relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly relationship: part_of Orphanet:79381 ! Unclassified dermis disorder relationship: part_of Orphanet:97593 ! Pseudohypoparathyroidism relationship: part_of Orphanet:98648 ! Musculoskeletal disease with cataract [Term] id: Orphanet:66518 name: Short fifth metacarpals - insulin resistance xref: ICD10:E11 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181368 ! Insulin-resistance syndrome [Term] id: Orphanet:66529 name: Tako-Tsubo cardiomyopathy xref: ICD10:I42.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:217678 ! Unclassified cardiomyopathy property_value: alternative:term "Ampulla cardiomyopathy" xsd:string property_value: alternative:term "Apical ballooning syndrome" xsd:string property_value: alternative:term "Ballooning cardiomyopathy" xsd:string property_value: alternative:term "Stress cardiomyopathy" xsd:string property_value: alternative:term "Tako-tsubo syndrome" xsd:string property_value: alternative:term "Takotsubo cardiomyopathy" xsd:string property_value: alternative:term "Takotsubo syndrome" xsd:string property_value: alternative:term "Transient left ventricular apical ballooning syndrome" xsd:string [Term] id: Orphanet:666 name: Osteogenesis imperfecta xref: ICD10:Q78.0 xref: MEDDRA:10031243 xref: MESH:D010013 xref: OMIM:166200 xref: OMIM:166210 xref: OMIM:166220 xref: OMIM:166230 xref: OMIM:259420 xref: OMIM:259440 xref: OMIM:610682 xref: OMIM:610915 xref: OMIM:610967 xref: OMIM:610968 xref: OMIM:613848 xref: OMIM:613849 xref: OMIM:613982 xref: OMIM:614856 xref: OMIM:615066 xref: OMIM:615220 xref: SNOMED CT:78314001 xref: UMLS:C0029434 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:93446 ! Primary bone dysplasia with decreased bone density property_value: alternative:term "Brittle bone disease" xsd:string property_value: alternative:term "Glass bone disease" xsd:string property_value: alternative:term "Lobstein disease" xsd:string property_value: alternative:term "OI" xsd:string property_value: alternative:term "Osteopsathyrosis" xsd:string property_value: alternative:term "Porak and Durante disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity." xsd:string [Term] id: Orphanet:66624 name: PANDAS is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:306727 ! Postinfectious autoimmune disease with chorea property_value: alternative:term "Pediatric autoimmune disorders associated with Streptococcus infections" xsd:string property_value: alternative:term "Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections" xsd:string [Term] id: Orphanet:66625 name: Cerebro-oculo-nasal syndrome xref: ICD10:Q87.0 xref: OMIM:605627 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature relationship: part_of Orphanet:269564 ! Genetic syndrome with a central nervous system malformation as major feature [Term] id: Orphanet:66627 name: Pigmented villonodular synovitis xref: MESH:D013586 xref: SNOMED CT:95412009 xref: UMLS:C0039106 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:182231 ! Rare rheumatologic disease [Term] id: Orphanet:66628 name: Obesity due to congenital leptin deficiency xref: ICD10:E66.8 xref: OMIM:614962 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181390 ! Hypogonadotropic hypogonadism associated with other endocrinopathies relationship: part_of Orphanet:98267 ! Nonsyndromic obesity [Term] id: Orphanet:66629 name: Goldberg-Shprintzen megacolon syndrome xref: ICD10:Q87.8 xref: MESH:C537279 xref: OMIM:609460 xref: UMLS:C1836123 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:108969 ! Syndromic intestinal malformation relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:98578 ! Ptosis property_value: alternative:term "GOSHS" xsd:string property_value: alternative:term "Megacolon - microcephaly" xsd:string [Term] id: Orphanet:66630 name: Congenital pseudoarthrosis of clavicle xref: ICD10:Q74.0 xref: OMIM:118980 xref: SNOMED CT:70794004 xref: UMLS:C0265565 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:364559 ! Dysostosis [Term] id: Orphanet:66631 name: CEDNIK syndrome xref: ICD10:Q82.8 xref: OMIM:609528 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:281241 ! Autosomal ichthyosis syndrome with fatal disease course relationship: part_of Orphanet:98356 ! Autosomal recessive isolated diffuse palmoplantar keratoderma property_value: alternative:term "Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome" xsd:string [Term] id: Orphanet:66633 name: Sensorineural hearing loss - early graying - essential tremor is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:306712 ! Rare tremor disorder relationship: part_of Orphanet:307061 ! Rare genetic tremor disorder relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:66634 name: Dilated cardiomyopathy with ataxia xref: ICD10:E71.1 xref: OMIM:610198 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:217619 ! Syndrome associated with dilated cardiomyopathy relationship: part_of Orphanet:289902 ! 3-methylglutaconic aciduria property_value: alternative:term "3-methylglutaconic aciduria type 5" xsd:string property_value: alternative:term "DCMA syndrome" xsd:string property_value: alternative:term "MGA5" xsd:string [Term] id: Orphanet:66637 name: Diaphanospondylodysostosis xref: ICD10:Q78.8 xref: OMIM:608022 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93434 ! Spondylodysplastic dysplasia relationship: part_of Orphanet:93454 ! Dysostosis with predominant vertebral and costal involvement [Term] id: Orphanet:66646 name: Cutaneous mastocytosis xref: ICD10:Q82.2 xref: MESH:D034701 xref: SNOMED CT:397012002 xref: UMLS:C1136033 is_a: Orphanet:79384 ! Rare urticaria is_a: Orphanet:98292 ! Mastocytosis relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis (see this term)." xsd:string [Term] id: Orphanet:66661 name: Mast cell sarcoma xref: ICD10:C96.2 xref: MESH:D012515 xref: SNOMED CT:118615008 xref: SNOMED CT:13583002 xref: SNOMED CT:188660004 xref: UMLS:C0036221 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:98292 ! Mastocytosis [Term] id: Orphanet:66662 name: Extracutaneous mastocytoma xref: ICD10:C96.2 xref: SNOMED CT:63175003 xref: UMLS:C0272202 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:98292 ! Mastocytosis [Term] id: Orphanet:667 name: Autosomal recessive malignant osteopetrosis xref: ICD10:Q78.2 xref: OMIM:259700 xref: OMIM:259710 xref: OMIM:611490 xref: OMIM:615085 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:2781 ! Osteopetrosis relationship: part_of Orphanet:98677 ! Autosomal recessive syndromic optic atrophy property_value: alternative:term "Infantile malignant osteopetrosis" xsd:string [Term] id: Orphanet:668 name: Osteosarcoma xref: ICD10:C40 xref: ICD10:C41 xref: MEDDRA:10031291 xref: MESH:D012516 xref: OMIM:259500 xref: SNOMED CT:21708004 xref: UMLS:C0029463 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:223727 ! Bone sarcoma property_value: alternative:term "Osteogenic sarcoma" xsd:string [Term] id: Orphanet:669 name: Otopalatodigital syndrome xref: ICD10:Q87.0 xref: OMIM:304120 xref: OMIM:311300 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:364541 ! Fronto-otopalatodigital syndrome relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Taybi syndrome" xsd:string [Term] id: Orphanet:67 name: Amoebiasis due to Entamoeba histolytica xref: ICD10:A06.0 xref: ICD10:A06.1 xref: ICD10:A06.2 xref: ICD10:A06.3 xref: ICD10:A06.4 xref: ICD10:A06.5 xref: ICD10:A06.6 xref: ICD10:A06.7 xref: ICD10:A06.8 xref: ICD10:A06.9 xref: MESH:C531613 xref: UMLS:C2930799 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163588 ! Rare parasitic disease [Term] id: Orphanet:670 name: PIBIDS syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_33364 with label: Trichothiodystrophy" xsd:string [Term] id: Orphanet:67036 name: Autosomal dominant optic atrophy and cataract xref: ICD10:H47.2 xref: MESH:C537128 xref: OMIM:165300 xref: UMLS:C1833809 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254822 ! Mitochondrial oxidative phosphorylation disorder with no known mechanism relationship: part_of Orphanet:98672 ! Autosomal dominant optic atrophy property_value: alternative:term "Autosomal dominant optic atrophy type 3" xsd:string property_value: alternative:term "OPA3, autosomal dominant" xsd:string [Term] id: Orphanet:67037 name: Squamous cell carcinoma of head and neck xref: MEDDRA:10060121 xref: MESH:C535575 xref: OMIM:275355 xref: UMLS:C1168401 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:290849 ! Rare head and neck tumor property_value: alternative:term "Head and neck squamous cell carcinoma" xsd:string property_value: alternative:term "HNSCC" xsd:string [Term] id: Orphanet:67038 name: B-cell chronic lymphocytic leukemia xref: ICD10:C91.1 xref: MEDDRA:10008958 xref: MESH:D015451 xref: OMIM:109543 xref: OMIM:151400 xref: OMIM:609630 xref: OMIM:612557 xref: OMIM:612558 xref: OMIM:612559 xref: SNOMED CT:277473004 xref: SNOMED CT:51092000 xref: SNOMED CT:92814006 xref: UMLS:C0023434 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:300842 ! Indolent B-cell non-Hodgkin lymphoma property_value: alternative:term "B-cell chronic lymphoid leukemia" xsd:string property_value: alternative:term "B-CLL" xsd:string property_value: alternative:term "Lymphoplasmacytic leukemia" xsd:string property_value: alternative:term "Lymphoplasmacytoid immunocytoma" xsd:string property_value: alternative:term "Small lymphocytic lymphoma" xsd:string [Term] id: Orphanet:67039 name: Segmental odontomaxillary dysplasia xref: ICD10:K00.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:164001 ! Rare odontal or periodontal disorder property_value: alternative:term "SOD" xsd:string [Term] id: Orphanet:67041 name: Hyaluronidase deficiency xref: ICD10:E76.2 xref: OMIM:601492 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79213 ! Mucopolysaccharidosis relationship: part_of Orphanet:93448 ! Lysosomal storage disease with skeletal involvement property_value: alternative:term "Mucopolysaccharidosis type 9" xsd:string [Term] id: Orphanet:67042 name: Late-onset retinal degeneration xref: OMIM:605670 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:71862 ! Retinal dystrophy property_value: alternative:term "Autosomal dominant late-onset retinal degeneration" xsd:string property_value: alternative:term "LORD" xsd:string [Term] id: Orphanet:67043 name: Acanthamoeba keratitis xref: ICD10:B60.1+ xref: ICD10:H19.2* xref: MEDDRA:10069408 xref: MESH:D015823 xref: SNOMED CT:231896005 xref: UMLS:C0000880 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:163588 ! Rare parasitic disease [Term] id: Orphanet:67044 name: Thrombocytopenia with congenital dyserythropoietic anemia xref: ICD10:D69.4 xref: OMIM:300367 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:220452 ! Inherited giant platelet disorder relationship: part_of Orphanet:85 ! Congenital dyserythropoietic anemia property_value: alternative:term "Congenital dyserythropoietic anemia with thombocytopenia" xsd:string property_value: alternative:term "X-linked congenital dyserythropoietic anemia with thrombocytopenia" xsd:string property_value: alternative:term "XDAT" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia." xsd:string [Term] id: Orphanet:67045 name: X-linked intellectual deficit with isolated growth hormone deficiency xref: ICD10:E23.0 xref: OMIM:300123 is_a: Orphanet:231692 ! Isolated growth hormone deficiency type III relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182076 ! Syndromic neurometabolic disease with X-linked intellectual deficit property_value: alternative:term "MRGH" xsd:string [Term] id: Orphanet:67046 name: 3-methylglutaconic aciduria type 1 xref: ICD10:E71.1 xref: OMIM:250950 xref: SNOMED CT:237951008 xref: UMLS:C0342727 xref: UMLS:C0342728 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:289902 ! 3-methylglutaconic aciduria property_value: alternative:term "3-methylglutaconyl-CoA hydratase deficiency" xsd:string property_value: alternative:term "3MG-CoA hydratase deficiency" xsd:string property_value: alternative:term "MGA type 1" xsd:string [Term] id: Orphanet:67047 name: 3-methylglutaconic aciduria type 3 xref: ICD10:E71.1 xref: MESH:C535311 xref: OMIM:258501 xref: SNOMED CT:297232009 xref: UMLS:C0574084 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:289902 ! 3-methylglutaconic aciduria relationship: part_of Orphanet:98677 ! Autosomal recessive syndromic optic atrophy property_value: alternative:term "Autosomal recessive optic atrophy type 3" xsd:string property_value: alternative:term "Costeff optic atrophy syndrome" xsd:string property_value: alternative:term "Costeff syndrome" xsd:string property_value: alternative:term "Infantile optic atrophy with chorea and spastic paraplegia" xsd:string property_value: alternative:term "MGA3" xsd:string property_value: alternative:term "Optic atrophy plus syndrome" xsd:string [Term] id: Orphanet:67048 name: 3-methylglutaconic aciduria type 4 xref: ICD10:E71.1 xref: OMIM:250951 xref: SNOMED CT:297233004 xref: UMLS:C0574085 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:289902 ! 3-methylglutaconic aciduria property_value: alternative:term "MGA4" xsd:string [Term] id: Orphanet:671 name: Primary cutis verticis gyrata xref: ICD10:Q82.8 xref: SNOMED CT:51603000 xref: UMLS:C0263417 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79381 ! Unclassified dermis disorder property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG)." xsd:string [Term] id: Orphanet:672 name: Pallister-Hall syndrome xref: ICD10:D33.0 xref: MESH:D054975 xref: OMIM:146510 xref: SNOMED CT:56677004 xref: UMLS:C0265220 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:95495 ! Disease associated with nonacquired combined pituitary hormone deficiency property_value: alternative:term "Hypothalamic hamartoblastoma syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations." xsd:string [Term] id: Orphanet:673 name: Malaria xref: ICD10:B50 xref: ICD10:B51 xref: ICD10:B52 xref: ICD10:B53 xref: ICD10:B54 xref: MEDDRA:10025487 xref: MESH:D008288 xref: OMIM:611162 xref: SNOMED CT:105649009 xref: SNOMED CT:248437004 xref: SNOMED CT:61462000 xref: UMLS:C0024530 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:163588 ! Rare parasitic disease [Term] id: Orphanet:674 name: Accessory pancreas xref: ICD10:Q45.3 xref: MESH:C536003 xref: SNOMED CT:79037006 xref: UMLS:C0266268 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108971 ! Nonsyndromic visceral malformation [Term] id: Orphanet:675 name: Annular pancreas xref: ICD10:Q45.1 xref: MESH:C536376 xref: OMIM:167750 xref: SNOMED CT:40315008 xref: UMLS:C0149955 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108971 ! Nonsyndromic visceral malformation [Term] id: Orphanet:676 name: Hereditary chronic pancreatitis xref: ICD10:K86.1 xref: OMIM:167800 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:101937 ! Rare pancreatic disease relationship: part_of Orphanet:165661 ! Genetic pancreatic disease relationship: part_of Orphanet:181381 ! Other rare diabetes mellitus relationship: part_of Orphanet:183625 ! Rare genetic diabetes mellitus [Term] id: Orphanet:677 name: Pancreatoblastoma xref: ICD10:C25.1 xref: MESH:C537162 xref: SNOMED CT:53618008 xref: UMLS:C0334489 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:180824 ! Pancreatic tumor [Term] id: Orphanet:678 name: Papillon-Lefèvre syndrome xref: ICD10:Q82.8 xref: MESH:D010214 xref: OMIM:245000 xref: SNOMED CT:40158001 xref: UMLS:C0030360 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183681 ! Functional neutrophil defect relationship: part_of Orphanet:307804 ! Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature relationship: part_of Orphanet:309340 ! Disorder of lysosomal-related organelles relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Keratosis palmoplantar - periodontopathy" xsd:string property_value: alternative:term "PLS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis." xsd:string [Term] id: Orphanet:679 name: Malignant atrophic papulosis xref: ICD10:I77.8 xref: MEDDRA:10064281 xref: MESH:D054853 xref: OMIM:602248 xref: SNOMED CT:400171002 xref: UMLS:C0221011 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183444 ! Genetic porokeratosis relationship: part_of Orphanet:79358 ! Porokeratosis property_value: alternative:term "Degos disease" xsd:string property_value: alternative:term "Köhlmeier-Degos disease" xsd:string property_value: alternative:term "Köhlmeier-Degos-Delort-Tricort syndrome" xsd:string property_value: alternative:term "Papulosis atrophican maligna" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal." xsd:string [Term] id: Orphanet:68 name: Amoebiasis due to free-living amoebae xref: ICD10:B60.1 xref: ICD10:B60.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:163588 ! Rare parasitic disease [Term] id: Orphanet:680 name: Normokalemic periodic paralysis is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_682 with label: Hyperkalemic periodic paralysis" xsd:string [Term] id: Orphanet:681 name: Hypokalemic periodic paralysis xref: ICD10:G72.3 xref: MESH:D020514 xref: OMIM:170400 xref: OMIM:613345 xref: SNOMED CT:240093008 xref: SNOMED CT:82732003 xref: UMLS:C0238358 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:206976 ! Periodic paralysis relationship: part_of Orphanet:352298 ! Genetic muscular channelopathy relationship: part_of Orphanet:371433 ! Genetic periodic paralysis relationship: part_of Orphanet:71864 ! Muscular channelopathy property_value: alternative:term "Westphall disease" xsd:string [Term] id: Orphanet:682 name: Hyperkalemic periodic paralysis xref: ICD10:G72.3 xref: MESH:C535409 xref: MESH:D020513 xref: OMIM:170500 xref: SNOMED CT:278513006 xref: SNOMED CT:304737009 xref: UMLS:C0238357 xref: UMLS:C2930895 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:206976 ! Periodic paralysis relationship: part_of Orphanet:352298 ! Genetic muscular channelopathy relationship: part_of Orphanet:371433 ! Genetic periodic paralysis relationship: part_of Orphanet:71864 ! Muscular channelopathy property_value: alternative:term "Adynamia episodica hereditaria" xsd:string property_value: alternative:term "Familial hyperkalemic periodic paralysis" xsd:string property_value: alternative:term "Familial hyperPP" xsd:string property_value: alternative:term "Gamstorp disease" xsd:string property_value: alternative:term "Gamstorp episodic adynamy" xsd:string property_value: alternative:term "Hyperkalemic PP" xsd:string property_value: alternative:term "HyperKPP" xsd:string property_value: alternative:term "HyperPP" xsd:string property_value: alternative:term "HYPP" xsd:string property_value: alternative:term "Primary hyperkalemic periodic paralysis" xsd:string property_value: alternative:term "Primary hyperPP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration." xsd:string [Term] id: Orphanet:683 name: Progressive supranuclear palsy xref: ICD10:G23.1 xref: MEDDRA:10036813 xref: MESH:D013494 xref: OMIM:260540 xref: OMIM:601104 xref: OMIM:609454 xref: OMIM:610898 xref: SNOMED CT:28978003 xref: UMLS:C0038868 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:276061 ! Genetic frontotemporal degeneration with dementia relationship: part_of Orphanet:306708 ! Frontotemporal neurodegeneration with movement disorder relationship: part_of Orphanet:98535 ! Frontotemporal degeneration with dementia relationship: part_of Orphanet:98687 ! Supranuclear oculomotor palsy property_value: alternative:term "PSP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia." xsd:string [Term] id: Orphanet:68329 name: Rare maxillo-facial surgical disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome property_value: alternative:term "Rare maxillofacial anomaly" xsd:string [Term] id: Orphanet:68334 name: Rare hemorrhagic disorder due to a constitutional coagulation factors defect is_a: Orphanet:183654 ! Rare genetic coagulation disorder is_a: Orphanet:248315 ! Rare hemorrhagic disorder due to a coagulation factors defect property_value: alternative:term "Rare bleeding disorder due to a constitutional coagulation factors defect" xsd:string property_value: alternative:term "Rare coagulopathy due to a constitutional coagulation factors defect" xsd:string [Term] id: Orphanet:68335 name: Chromosomal anomaly xref: MESH:D002869 xref: UMLS:C0008625 is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis is_a: Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:68336 name: Rare genetic tumor is_a: Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:68341 name: Multiple congenital anomalies/dysmorphic syndrome is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis [Term] id: Orphanet:68346 name: Rare genetic skin disease is_a: Orphanet:98053 ! Rare genetic disease property_value: alternative:term "Rare genodermatosis" xsd:string [Term] id: Orphanet:68347 name: Tumor of hematopoietic and lymphoid tissues is_a: Orphanet:97992 ! Rare hematologic disease is_a: Orphanet:98057 ! Rare tumor [Term] id: Orphanet:68354 name: Sleep disorder xref: MEDDRA:10040984 xref: MESH:D012893 xref: SNOMED CT:39898005 xref: UMLS:C0851578 is_a: Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:68356 name: Leukodystrophy xref: ICD10:E75.2 xref: MEDDRA:10024381 xref: SNOMED CT:192781003 xref: UMLS:C0023520 is_a: Orphanet:71859 ! Rare genetic neurological disease is_a: Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:68361 name: Rare deafness is_a: Orphanet:98036 ! Rare otorhinolaryngologic disease [Term] id: Orphanet:68362 name: Rare vascular disease is_a: Orphanet:98028 ! Rare circulatory system disease [Term] id: Orphanet:68363 name: Rare dystonia is_a: Orphanet:102003 ! Rare movement disorder is_a: Orphanet:183521 ! Rare genetic movement disorder property_value: alternative:term "Rare dystonic disorder" xsd:string [Term] id: Orphanet:68364 name: Hemoglobinopathy xref: ICD10:D56 xref: ICD10:D57 xref: ICD10:D58 xref: MEDDRA:10060892 xref: MESH:D006453 xref: SNOMED CT:80141007 xref: UMLS:C0019045 is_a: Orphanet:108997 ! Rare anemia is_a: Orphanet:183651 ! Rare constitutional anemia [Term] id: Orphanet:68366 name: Lysosomal disease is_a: Orphanet:68367 ! Inborn errors of metabolism [Term] id: Orphanet:68367 name: Inborn errors of metabolism is_a: Orphanet:98053 ! Rare genetic disease property_value: alternative:term "Metabolic disease" xsd:string [Term] id: Orphanet:68373 name: Peroxisomal disease xref: MESH:D018901 xref: SNOMED CT:238059005 xref: UMLS:C0282528 is_a: Orphanet:68367 ! Inborn errors of metabolism [Term] id: Orphanet:68378 name: Congenital limb malformation is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis [Term] id: Orphanet:68380 name: Mitochondrial disease xref: MESH:D028361 xref: SNOMED CT:240096000 xref: UMLS:C0751651 is_a: Orphanet:139009 ! Developmental anomaly of metabolic origin is_a: Orphanet:225696 ! Energy metabolism disorder with epilepsy is_a: Orphanet:79200 ! Disorder of energy metabolism is_a: Orphanet:95710 ! Non-acquired premature ovarian failure [Term] id: Orphanet:68381 name: Neuromuscular disease xref: MEDDRA:10029323 xref: MESH:D009468 xref: SNOMED CT:255522009 xref: SNOMED CT:257277002 xref: UMLS:C0027868 is_a: Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:68383 name: Rare constitutional medullar aplasia xref: ICD10:D61.0 is_a: Orphanet:182040 ! Medullar aplasia [Term] id: Orphanet:68385 name: Neurometabolic disease is_a: Orphanet:71859 ! Rare genetic neurological disease is_a: Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:684 name: Paramyotonia congenita of Von Eulenburg xref: ICD10:G71.1 xref: MESH:C538616 xref: OMIM:168300 xref: UMLS:C1868617 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206970 ! Myotonic syndrome relationship: part_of Orphanet:352298 ! Genetic muscular channelopathy relationship: part_of Orphanet:71864 ! Muscular channelopathy property_value: alternative:term "Paramyotonia congenita" xsd:string [Term] id: Orphanet:68402 name: Rare parkinsonian disorder xref: ICD10:G20 is_a: Orphanet:102003 ! Rare movement disorder [Term] id: Orphanet:68411 name: Rare bone tumor is_a: Orphanet:93419 ! Rare bone disease is_a: Orphanet:98057 ! Rare tumor [Term] id: Orphanet:68415 name: Rare parathyroid diseases and phosphocalcic metabolism disorder is_a: Orphanet:97978 ! Rare endocrine disease [Term] id: Orphanet:68416 name: Rare infectious disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:68419 name: Vascular anomaly or angioma is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis is_a: Orphanet:98028 ! Rare circulatory system disease [Term] id: Orphanet:685 name: Hereditary spastic paraplegia xref: ICD10:G11.4 is_a: Orphanet:182070 ! Rare neurodegenerative disease is_a: Orphanet:183500 ! Genetic neurodegenerative disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "Familial spastic paraplegia" xsd:string property_value: alternative:term "Hereditary spastic paraparesis" xsd:string property_value: alternative:term "HSP" xsd:string property_value: alternative:term "SPG" xsd:string property_value: alternative:term "Strümpell-Lorrain disease" xsd:string [Term] id: Orphanet:69 name: Amyloidosis xref: ICD10:E85 xref: MEDDRA:10002022 xref: MESH:D000686 xref: SNOMED CT:17602002 xref: UMLS:C0002726 is_a: Orphanet:182222 ! Rare systemic disease [Term] id: Orphanet:69028 name: Syndrome with brachydactyly xref: ICD10:Q73.8 is_a: Orphanet:109009 ! Syndrome with limb malformations as a major feature is_a: Orphanet:364568 ! Dysostosis with limb anomaly as a major feature [Term] id: Orphanet:69061 name: Idiopathic steroid-sensitive nephrotic syndrome xref: ICD10:N04 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:357502 ! Idiopathic nephrotic syndrome [Term] id: Orphanet:69063 name: Membranous congenital glomerulonephritis due to anti-maternal neutral endopeptidase alloimmunization is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102373 ! Primary glomerular disease [Term] id: Orphanet:69076 name: Renal glucosuria xref: ICD10:E74.8 xref: OMIM:233100 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79178 ! Glucose transport disorder relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease property_value: alternative:term "Familial renal glucosuria" xsd:string property_value: alternative:term "SGLT2 deficiency" xsd:string [Term] id: Orphanet:69077 name: Rhabdoid tumor xref: MESH:D018335 xref: OMIM:609322 xref: OMIM:613325 xref: SNOMED CT:83118000 xref: UMLS:C0206743 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:3394 ! Soft tissue sarcoma [Term] id: Orphanet:69078 name: Liposarcoma xref: ICD10:C49 xref: MEDDRA:10024627 xref: MESH:D008080 xref: OMIM:613488 xref: SNOMED CT:254829001 xref: SNOMED CT:49430005 xref: UMLS:C0023827 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:3394 ! Soft tissue sarcoma property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Liposarcoma (LS), a type of soft tissue sarcoma, describes a group of lipomatous tumors of varying severity ranging from slow-growing to aggressive and metastatic. Liposarcomas are most often located in the lower extremities or retroperitoneum, but they can also occur in the upper extremities, neck, peritoneal cavity, spermatic cord, breast, vulva and axilla." xsd:string [Term] id: Orphanet:69082 name: Odonto-tricho-ungual-digito-palmar syndrome xref: OMIM:601957 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type" xsd:string property_value: alternative:term "OTUDP syndrome" xsd:string [Term] id: Orphanet:69083 name: Ectodermal dysplasia with natal teeth, Turnpenny type xref: OMIM:601345 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome [Term] id: Orphanet:69084 name: Pure hair and nail ectodermal dysplasia xref: OMIM:602032 xref: OMIM:614928 xref: OMIM:614929 xref: OMIM:614931 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Hair-nail ectodermal dysplasia" xsd:string property_value: alternative:term "HNED" xsd:string property_value: alternative:term "PHNED" xsd:string [Term] id: Orphanet:69085 name: Limb-mammary syndrome xref: MESH:C535903 xref: OMIM:603543 xref: UMLS:C1863753 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:180173 ! Deficient breast volume or number relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:98609 ! EEC syndrome and related syndrome property_value: alternative:term "LMS" xsd:string [Term] id: Orphanet:69087 name: Naegeli-Franceschetti-Jadassohn syndrome xref: ICD10:Q82.4 xref: OMIM:161000 xref: SNOMED CT:239084001 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin relationship: part_of Orphanet:98352 ! Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature property_value: alternative:term "Naegeli syndrome" xsd:string property_value: alternative:term "NFJ syndrome" xsd:string [Term] id: Orphanet:69088 name: Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema xref: ICD10:Q78.2 xref: OMIM:300301 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2781 ! Osteopetrosis relationship: part_of Orphanet:331193 ! Other immunodeficiency syndromes due to defects in innate immunity relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:89832 ! Syndromic lymphedema property_value: alternative:term "OL-EDA-ID" xsd:string [Term] id: Orphanet:69125 name: Anonychia with flexural pigmentation xref: OMIM:106750 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79370 ! Syndromic nail anomaly relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome [Term] id: Orphanet:69126 name: Pyogenic arthritis - pyoderma gangrenosum - acne xref: OMIM:604416 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:290839 ! Autoinflammatory syndrome with immune deficiency relationship: part_of Orphanet:290842 ! Autoinflammatory syndrome with skin involvement relationship: part_of Orphanet:324927 ! Pyogenic autoinflammatory syndrome relationship: part_of Orphanet:79385 ! Unclassified genetic skin disease property_value: alternative:term "Familial recurrent arthritis" xsd:string property_value: alternative:term "FRA" xsd:string property_value: alternative:term "PAPA syndrome" xsd:string [Term] id: Orphanet:69663 name: Low phospholipid associated cholelithiasis xref: MEDDRA:10068936 xref: OMIM:600803 xref: UMLS:C2609268 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101941 ! Rare biliary tract disease relationship: part_of Orphanet:156607 ! Genetic biliary tract disease property_value: alternative:term "ABCB4 gene mutation-associated cholelithiasis" xsd:string property_value: alternative:term "Cholelithiasis with ABCB4 gene mutation" xsd:string [Term] id: Orphanet:69665 name: Intrahepatic cholestasis of pregnancy xref: ICD10:O26.6 xref: MESH:C535932 xref: OMIM:147480 xref: OMIM:614972 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101939 ! Rare parenchymatous liver disease relationship: part_of Orphanet:163637 ! Rare disorder related with pregnancy, childbirth and puerperium property_value: alternative:term "Gravidic intrahepatic cholestasis" xsd:string property_value: alternative:term "Pregnancy-related cholestasis" xsd:string property_value: alternative:term "Recurrent intrahepatic cholestasis of pregnancy" xsd:string [Term] id: Orphanet:69723 name: Tyrosinemia type 3 xref: ICD10:E70.2 xref: OMIM:276710 xref: SNOMED CT:413356003 xref: SNOMED CT:415764005 xref: UMLS:C0268623 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:284818 ! Disorder of tyrosine metabolism property_value: alternative:term "Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency" xsd:string property_value: alternative:term "Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency" xsd:string property_value: alternative:term "Tyrosinemia due to HPD deficiency" xsd:string property_value: alternative:term "Tyrosinemia type III" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate." xsd:string [Term] id: Orphanet:69735 name: Hypotrichosis - lymphedema - telangiectasia xref: OMIM:607823 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:89832 ! Syndromic lymphedema property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms." xsd:string [Term] id: Orphanet:69736 name: Acute bilateral depigmentation of the iris is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101949 ! Rare acquired eye disease [Term] id: Orphanet:69737 name: Bosley-Salih-Alorainy syndrome xref: ICD10:Q87.8 xref: OMIM:601536 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:156532 ! Rare syndrome with cardiac malformations relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:69739 name: Athabaskan brainstem dysgenesis syndrome xref: MESH:C535397 xref: OMIM:601536 xref: UMLS:C1832215 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:71859 ! Rare genetic neurological disease relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98006 ! Rare neurologic disease property_value: alternative:term "ABSD" xsd:string property_value: alternative:term "Navajo brainstem syndrome" xsd:string [Term] id: Orphanet:69744 name: Circumscribed palmoplantar hypokeratosis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79359 ! Other epidermis disorder [Term] id: Orphanet:69745 name: Warty dyskeratoma xref: MEDDRA:10068856 xref: SNOMED CT:22524002 xref: SNOMED CT:254676008 xref: UMLS:C0334063 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79359 ! Other epidermis disorder property_value: alternative:term "Follicular dyskeratoma" xsd:string [Term] id: Orphanet:699 name: Pearson syndrome xref: ICD10:D64.0 xref: MEDDRA:10062941 xref: OMIM:557000 xref: SNOMED CT:237985009 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:104013 ! Metabolic disease with intestinal involvement relationship: part_of Orphanet:181402 ! Syndrome with hypoparathyroidism relationship: part_of Orphanet:254767 ! Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA relationship: part_of Orphanet:331184 ! Constitutional neutropenia with extra-haematopoietic manifestations relationship: part_of Orphanet:98362 ! Constitutional sideroblastic anemia relationship: part_of Orphanet:98695 ! Mitochondrial disease with eye involvement [Term] id: Orphanet:7 name: 3C syndrome xref: ICD10:Q87.8 xref: MESH:C535313 xref: OMIM:220210 xref: UMLS:C0796137 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:269546 ! Syndrome with a Dandy-Walker malformation as major feature relationship: part_of Orphanet:269570 ! Genetic syndrome with a Dandy-Walker malformation as major feature property_value: alternative:term "Craniocerebellocardiac dysplasia" xsd:string property_value: alternative:term "Ritscher-Schinzel syndrome" xsd:string [Term] id: Orphanet:70 name: Proximal spinal muscular atrophy xref: ICD10:G12.0 xref: ICD10:G12.1 xref: OMIM:253300 xref: OMIM:253400 xref: OMIM:253550 xref: OMIM:271150 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98497 ! Genetic peripheral neuropathy relationship: part_of Orphanet:98505 ! Genetic motor neuron disease property_value: alternative:term "SMA" xsd:string [Term] id: Orphanet:700 name: Alopecia totalis xref: ICD10:L63.0 xref: MEDDRA:10001766 xref: OMIM:104000 xref: OMIM:300042 xref: OMIM:610753 xref: SNOMED CT:19754005 xref: UMLS:C0263504 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:79364 ! Alopecia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous." xsd:string [Term] id: Orphanet:701 name: Alopecia universalis xref: ICD10:L63.1 xref: MEDDRA:10001767 xref: MESH:C537055 xref: OMIM:104000 xref: OMIM:203655 xref: OMIM:610753 xref: SNOMED CT:86166000 xref: UMLS:C0263505 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:79364 ! Alopecia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Alopecia universalis is the most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body." xsd:string [Term] id: Orphanet:702 name: Pelizaeus-Merzbacher disease xref: ICD10:E75.2 xref: MEDDRA:10067610 xref: MESH:D020371 xref: OMIM:213900 xref: OMIM:312080 xref: SNOMED CT:64855000 xref: UMLS:C0205711 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:68356 ! Leukodystrophy relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit relationship: part_of Orphanet:98678 ! X-linked recessive optic atrophy relationship: part_of Orphanet:98691 ! Abnormal eye movements property_value: alternative:term "Diffuse familial brain sclerosis" xsd:string property_value: alternative:term "Pelizaeus-Merzbacher brain sclerosis" xsd:string property_value: alternative:term "PMD" xsd:string property_value: alternative:term "Sudanophilic leukodystrophy, Paelizeus-Merzbacher type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD (see these terms)." xsd:string [Term] id: Orphanet:703 name: Bullous pemphigoid xref: ICD10:L12.0 xref: MESH:D010391 xref: SNOMED CT:77090002 xref: UMLS:C0030805 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:79669 ! Autoimmune bullous skin disease [Term] id: Orphanet:704 name: Pemphigus vulgaris xref: ICD10:L10.0 xref: MEDDRA:10052802 xref: OMIM:169610 xref: SNOMED CT:49420001 xref: UMLS:C0030809 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:79669 ! Autoimmune bullous skin disease [Term] id: Orphanet:70470 name: Hyperlipoproteinemia type 5 xref: ICD10:E78.3 xref: MESH:D006954 xref: OMIM:144650 xref: SNOMED CT:34349009 xref: UMLS:C0020481 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:181425 ! Major hypertriglyceridemia property_value: alternative:term "Major hyperlipidemia" xsd:string [Term] id: Orphanet:70472 name: Congenital lactic acidosis, Saguenay-Lac-St. Jean type xref: ICD10:G31.8 xref: OMIM:220111 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:506 ! Leigh syndrome relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "French-Canadian type COX deficiency" xsd:string property_value: alternative:term "French-Canadian type cytochrome C oxidase deficiency" xsd:string property_value: alternative:term "French-Canadian type Leigh syndrome" xsd:string property_value: alternative:term "Saguenay-Lac-St. Jean cytochrome oxidase deficiency" xsd:string property_value: alternative:term "Saguenay-Lac-St. Jean type Leigh syndrome" xsd:string property_value: alternative:term "SLSJ-COX deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development." xsd:string [Term] id: Orphanet:70474 name: Leigh syndrome with cardiomyopathy xref: ICD10:G31.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:506 ! Leigh syndrome property_value: alternative:term "Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency" xsd:string property_value: alternative:term "Cardiomyopathy with myopathy due to COX deficiency" xsd:string property_value: alternative:term "Leigh disease with myopathy" xsd:string [Term] id: Orphanet:70475 name: Radiation proctitis xref: ICD10:K62.7 xref: MEDDRA:10037766 xref: SNOMED CT:235760009 xref: UMLS:C0400827 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:117569 ! Rare intestinal disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis." xsd:string [Term] id: Orphanet:70476 name: Vernal keratoconjunctivitis xref: ICD10:H16.2 xref: SNOMED CT:317349009 xref: UMLS:C0022577 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:182214 ! Rare inflammatory eye disease relationship: part_of Orphanet:98623 ! Syndromic keratoconus property_value: alternative:term "Spring catarrh" xsd:string [Term] id: Orphanet:70482 name: Esophageal carcinoma xref: ICD10:C15 xref: MEDDRA:10030155 xref: OMIM:133239 xref: SNOMED CT:372138000 xref: UMLS:C0152018 is_a: Orphanet:180821 ! Gastro-esophageal tumor relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "Esophageal cancer" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC) (see these terms)." xsd:string [Term] id: Orphanet:705 name: Pendred syndrome xref: ICD10:E07.1 xref: MESH:C536648 xref: OMIM:274600 xref: SNOMED CT:70348004 xref: UMLS:C0271829 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:177107 ! Syndromic hypothyroidism relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Goiter - deafness" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." xsd:string [Term] id: Orphanet:70567 name: Cholangiocarcinoma xref: ICD10:C22.1 xref: MEDDRA:10004593 xref: MEDDRA:10008593 xref: MESH:D001650 xref: MESH:D018281 xref: SNOMED CT:312104005 xref: SNOMED CT:70179006 xref: UMLS:C0206698 xref: UMLS:C0740277 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:306633 ! Rare biliary tract cancer property_value: alternative:term "Bile duct cancer" xsd:string property_value: alternative:term "CCA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cholangiocarcinoma (CCA) is a biliary tract cancer (BTC, see this term) originating in the epithelium of the biliary tree, either intra or extra hepatic." xsd:string [Term] id: Orphanet:70568 name: Posttransplant lymphoproliferative disease xref: ICD10:D47.9 xref: MEDDRA:10051358 xref: SNOMED CT:254290004 xref: UMLS:C0432487 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:171918 ! T-cell non-Hodgkin lymphoma relationship: part_of Orphanet:289644 ! Epstein-Barr virus-associated malignant lymphoproliferative disorder relationship: part_of Orphanet:98290 ! Immunodeficiency-associated lymphoproliferative disease property_value: alternative:term "PTLD" xsd:string [Term] id: Orphanet:70573 name: Small cell lung cancer xref: ICD10:C34 xref: OMIM:182280 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:101945 ! Rare bronchopulmonary tumor property_value: alternative:term "SCLC" xsd:string [Term] id: Orphanet:70578 name: Adult acute respiratory distress syndrome xref: ICD10:J80 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:264740 ! Primary interstitial lung disease specific to adulthood property_value: alternative:term "Adult ARDS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Adult acute respiratory distress syndrome is an inflammatory lung lesion characterised by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. Symptoms are labored, rapid breath, shortness of breath, low blood pressure and organ failure. The severity depends on the degree of alveolar epithelial injury." xsd:string [Term] id: Orphanet:70587 name: Infant acute respiratory distress syndrome xref: ICD10:P22.0 xref: OMIM:267450 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:264670 ! Primary interstitial lung disease specific to childhood due to alveolar structure disorder property_value: alternative:term "Hyaline membrane disease" xsd:string property_value: alternative:term "Infant ARDS" xsd:string property_value: alternative:term "Infant respiratory distress syndrome" xsd:string property_value: alternative:term "Neonatal respiratory distress syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts." xsd:string [Term] id: Orphanet:70588 name: Meconium aspiration syndrome xref: ICD10:P24.0 xref: MESH:D008471 xref: SNOMED CT:206292002 xref: UMLS:C0025048 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:101944 ! Rare pulmonary disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Meconium aspiration syndrome is a pulmonary complication appearing in newborns with a meconium-stained amniotic fluid. Aspirated meconium can interfere with normal breathing by several mechanisms including airway obstruction, chemical irritation, infection and surfactant inactivation and induces more or less severe signs of respiratory distress at birth." xsd:string [Term] id: Orphanet:70589 name: Bronchopulmonary dysplasia xref: ICD10:P27.1 xref: MEDDRA:10006475 xref: MESH:D001997 xref: SNOMED CT:67569000 xref: UMLS:C0006287 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:108993 ! Nonsyndromic respiratory or mediastinal malformation relationship: part_of Orphanet:182111 ! Respiratory malformation property_value: alternative:term "BPD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring." xsd:string [Term] id: Orphanet:70590 name: Infantile apnea is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101944 ! Rare pulmonary disease property_value: alternative:term "AOI" xsd:string property_value: alternative:term "Apnea of infancy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea." xsd:string [Term] id: Orphanet:70591 name: Chronic thromboembolic pulmonary hypertension xref: MEDDRA:10068739 xref: OMIM:612862 xref: SNOMED CT:233947005 xref: UMLS:C2363973 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:71198 ! Rare pulmonary hypertension property_value: alternative:term "CTEPH" xsd:string [Term] id: Orphanet:70592 name: Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency xref: ICD10:D84.8 xref: OMIM:607676 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183710 ! Genetic susceptibility to infections due to particular pathogens property_value: alternative:term "IRAK4 deficiency" xsd:string [Term] id: Orphanet:70593 name: Immunodeficiency due to selective anti-polysaccharide antibody deficiency xref: ICD10:D80.8 is_a: Orphanet:169443 ! Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 [Term] id: Orphanet:70594 name: Dopa-responsive dystonia due to sepiapterin reductase deficiency xref: ICD10:G24.1 xref: OMIM:612716 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:255 ! Dopa-responsive dystonia relationship: part_of Orphanet:309819 ! Disorder of pterin metabolism property_value: alternative:term "Autosomal recessive sepiapterin reductase-deficient DRD" xsd:string property_value: alternative:term "DRD autosomique récessive par déficit en sépiaptérine réductase" xsd:string property_value: alternative:term "DRD due to SRD" xsd:string property_value: alternative:term "Sepiapterin reductase deficiency" xsd:string property_value: alternative:term "SPR deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dopa responsive dystonia (DRD; see this term) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development." xsd:string [Term] id: Orphanet:70595 name: Sensory ataxic neuropathy - dysarthria - ophthalmoparesis xref: ICD10:G71.3 xref: MESH:C537583 xref: OMIM:607459 xref: UMLS:C1843851 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206966 ! Mitochondrial myopathy relationship: part_of Orphanet:225700 ! Mitochondrial disease with epilepsy relationship: part_of Orphanet:225703 ! Mitochondrial disease with peripheral neuropathy relationship: part_of Orphanet:254818 ! Ataxia neuropathy spectrum property_value: alternative:term "SANDO" xsd:string [Term] id: Orphanet:70596 name: Congenital Epstein-Barr virus infection xref: ICD10:P35.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163585 ! Rare viral disease relationship: part_of Orphanet:232035 ! Infectious embryofetopathy property_value: alternative:term "Antenatal Epstein-Barr virus infection" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital Epstein-Barr virus infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported." xsd:string [Term] id: Orphanet:706 name: Patent arterial duct xref: ICD10:Q25.0 xref: OMIM:607411 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:95485 ! Arterial duct anomaly property_value: alternative:term "PAD" xsd:string property_value: alternative:term "Patent ductus arteriosus" xsd:string property_value: alternative:term "Persistent patency of the arterial duct" xsd:string [Term] id: Orphanet:707 name: Plague xref: ICD10:A20.0 xref: ICD10:A20.1 xref: ICD10:A20.2 xref: ICD10:A20.3 xref: ICD10:A20.7 xref: ICD10:A20.8 xref: ICD10:A20.9 xref: MEDDRA:10035148 xref: MEDDRA:10061416 xref: MESH:D010930 xref: MESH:D015009 xref: SNOMED CT:58750007 xref: SNOMED CT:83436008 xref: UMLS:C0032064 xref: UMLS:C0043407 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease property_value: alternative:term "Yersiniosis" xsd:string [Term] id: Orphanet:708 name: Peters anomaly xref: ICD10:Q13.4 xref: MESH:C537884 xref: OMIM:604229 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: part_of Orphanet:98558 ! Rare eye disease due to a differentiation anomaly relationship: part_of Orphanet:98636 ! Corneoiridogoniodysgenesis property_value: alternative:term "Peters congenital glaucoma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane." xsd:string [Term] id: Orphanet:709 name: Peters-plus syndrome xref: ICD10:Q13.4 xref: OMIM:261540 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:309505 ! Disorder of fucoglycosan synthesis relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371183 ! Congenital disorder of glycosylation with cardiac malformation as a major feature relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature property_value: alternative:term "Peters anomaly with short limb dwarfism" xsd:string [Term] id: Orphanet:71 name: Chylomicron retention disease xref: ICD10:E78.6 xref: MESH:C535460 xref: OMIM:246700 xref: UMLS:C0795956 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:104005 ! Intestinal disease due to fat malabsorption relationship: part_of Orphanet:31154 ! Hypobetalipoproteinemia relationship: part_of Orphanet:363306 ! Genetic intestinal disease due to fat malabsorption property_value: alternative:term "Anderson disease" xsd:string property_value: alternative:term "CMRD" xsd:string property_value: alternative:term "CRD" xsd:string [Term] id: Orphanet:710 name: Pfeiffer syndrome xref: ICD10:Q87.0 xref: MESH:C538582 xref: OMIM:101600 xref: SNOMED CT:70410008 xref: UMLS:C2931888 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:946 ! Acrocephalosyndactyly relationship: part_of Orphanet:98684 ! Craniostenosis associated with a strabismus property_value: alternative:term "Acrocephalosyndactyly type 5" xsd:string property_value: alternative:term "ACS5" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pfeiffer syndrome (PS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations, and various other associated manifestations." xsd:string [Term] id: Orphanet:711 name: Glycogen storage disease due to phosphoglucomutase deficiency xref: ICD10:E74.0 xref: OMIM:612934 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79201 ! Glycogen storage disease property_value: alternative:term "Glycogen storage disease type 14" xsd:string property_value: alternative:term "Glycogenosis due to phosphoglucomutase deficiency" xsd:string property_value: alternative:term "Glycogenosis type 14" xsd:string property_value: alternative:term "GSD due to phosphoglucomutase deficiency" xsd:string property_value: alternative:term "GSD type 14" xsd:string property_value: alternative:term "GSDXIV" xsd:string property_value: alternative:term "Phosphoglucomutase 1 deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Glycogen storage disease type XIV (GSDXIV) is a rare metabolic disorder caused by a deficiency in phosphoglucomutase (PGM) enzymatic activity and characterized by recurrent cramps during exercise." xsd:string [Term] id: Orphanet:71198 name: Rare pulmonary hypertension is_a: Orphanet:97955 ! Rare respiratory disease [Term] id: Orphanet:712 name: Hemolytic anemia due to glucophosphate isomerase deficiency xref: ICD10:D55.2 xref: OMIM:613470 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:308459 ! Disorder of glycolysis relationship: part_of Orphanet:98372 ! Hemolytic anemia due to a disorder of glycolytic enzymes [Term] id: Orphanet:71202 name: Rare hemorrhagic disorder due to a constitutional platelet anomaly xref: ICD10:D69.1 is_a: Orphanet:183654 ! Rare genetic coagulation disorder is_a: Orphanet:248326 ! Rare hemorrhagic disorder due to a platelet anomaly property_value: alternative:term "Rare bleeding disorder due to a constitutional platelet anomaly" xsd:string property_value: alternative:term "Rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia" xsd:string property_value: alternative:term "Rare coagulopathy due to a constitutional platelet anomaly" xsd:string property_value: alternative:term "Rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia" xsd:string property_value: alternative:term "Rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia" xsd:string [Term] id: Orphanet:71203 name: Autoimmune thrombocytopenia xref: ICD10:D69.3 is_a: Orphanet:248347 ! Rare hemorrhagic disorder due to an acquired platelet anomaly [Term] id: Orphanet:71209 name: Rare soft tissue tumor is_a: Orphanet:98057 ! Rare tumor property_value: alternative:term "Rare mesenchymal tumor" xsd:string [Term] id: Orphanet:71211 name: Neuromyelitis optica xref: ICD10:G36.0 xref: MEDDRA:10029322 xref: MESH:D009471 xref: SNOMED CT:25044007 xref: UMLS:C0027873 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:101949 ! Rare acquired eye disease relationship: part_of Orphanet:228145 ! Multiple sclerosis variant property_value: alternative:term "Devic disease" xsd:string [Term] id: Orphanet:71212 name: Hyperinsulinism due to 3-hydroxylacyl-CoA dehydrogenase deficiency xref: ICD10:E71.3 xref: OMIM:231530 xref: OMIM:609975 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:165985 ! Diazoxide-sensitive diffuse hyperinsulinism relationship: part_of Orphanet:225696 ! Energy metabolism disorder with epilepsy relationship: part_of Orphanet:309127 ! 3-hydroxyacyl-CoA dehydrogenase deficiency relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "Hyperinsulinemic hypoglycemia due to 3-hydroxylacyl-CoA dehydrogenase deficiency" xsd:string property_value: alternative:term "Hyperinsulinism due to glutamodehydrogenase deficiency" xsd:string property_value: alternative:term "Hyperinsulinism due to HADH deficiency" xsd:string property_value: alternative:term "Hyperinsulinism due to SCHAD deficiency" xsd:string property_value: alternative:term "Hyperinsulinism due to short-chain 3-hydroxylacyl-CoA dehydrogenase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "3-hydroxyacyl-CoA dehydrogenase deficiency is a very rare mitochondrial fatty acid oxidation disorder characterized clinically by poor appetite, vomiting, diarrhea, and lethargy during infancy or early childhood. Affected individuals may also have hypotonia, hypoglycemia, and hyperinsulinism. Complications include seizures, coma, and sudden death." xsd:string [Term] id: Orphanet:71213 name: Retinal cavernous hemangioma xref: ICD10:D18.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:211237 ! Vascular tumor relationship: part_of Orphanet:371436 ! Genetic neurovascular malformation relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease relationship: part_of Orphanet:98669 ! Congenital vitreoretinal dysplasia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles." xsd:string [Term] id: Orphanet:71267 name: Dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:180766 ! Malformative syndrome with dentinogenesis imperfecta relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:71269 name: Benign exophthalmos syndrome xref: ICD10:H05.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101949 ! Rare acquired eye disease property_value: alternative:term "BES" xsd:string [Term] id: Orphanet:71270 name: Auriculoocular anomalies - cleft lip xref: ICD10:Q87.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit [Term] id: Orphanet:71271 name: Split hand - split foot - deafness xref: ICD10:Q87.2 xref: OMIM:220600 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit." xsd:string [Term] id: Orphanet:71272 name: Sandifer syndrome xref: MEDDRA:10066142 xref: MESH:C537234 xref: SNOMED CT:230314007 xref: UMLS:C0338465 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101936 ! Rare gastro-esophageal disease relationship: part_of Orphanet:306768 ! Rare paroxysmal movement disorder [Term] id: Orphanet:71273 name: Renal nutcracker syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:165711 ! Rare abdominal surgical disease relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Left renal vein entrapment syndrome" xsd:string property_value: alternative:term "RNS" xsd:string [Term] id: Orphanet:71274 name: Disseminated peritoneal leiomyomatosis xref: ICD10:D20.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:168803 ! Primary peritoneal tumor property_value: alternative:term "Diffuse peritoneal leiomyomatosis" xsd:string property_value: alternative:term "DPL" xsd:string property_value: alternative:term "Leiomyomatosis peritonealis disseminate" xsd:string property_value: alternative:term "LPD" xsd:string [Term] id: Orphanet:71275 name: Rh deficiency syndrome xref: ICD10:D58.8 xref: OMIM:268150 xref: SNOMED CT:37272000 xref: UMLS:C0272052 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98365 ! Stomatocytosis property_value: alternative:term "Rh-null syndrome" xsd:string [Term] id: Orphanet:71276 name: Silent sinus syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98036 ! Rare otorhinolaryngologic disease property_value: alternative:term "Imploding antrum syndrome" xsd:string [Term] id: Orphanet:71277 name: Encephalopathy due to GLUT1 deficiency xref: ICD10:G93.4 xref: OMIM:606777 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:225713 ! Other metabolic disease with epilepsy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79178 ! Glucose transport disorder property_value: alternative:term "De Vivo disease" xsd:string property_value: alternative:term "Glucose transporter type 1 deficiency" xsd:string property_value: alternative:term "Glut-1 deficiency Syndrome" xsd:string property_value: alternative:term "Glut1-DS" xsd:string [Term] id: Orphanet:71278 name: Congenital brain dysgenesis due to glutamine synthetase deficiency xref: ICD10:E72.8 xref: OMIM:610015 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:289841 ! Disorder of glutamine metabolism relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "Inherited glutamine synthetase deficiency" xsd:string property_value: alternative:term "Inherited GS deficiency" xsd:string [Term] id: Orphanet:71279 name: CANOMAD syndrome xref: ICD10:G61.8 xref: MESH:C537980 xref: UMLS:C2931684 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182064 ! Rare neuroinflammatory or neuroimmunological disease relationship: part_of Orphanet:208974 ! Chronic acquired demyelinating polyneuropathy relationship: part_of Orphanet:209010 ! Peripheral neuropathy associated with monoclonal gammopathy property_value: alternative:term "Chronic ataxic neuropathy - ophthalmoplegia - IgM paraprotein - cold agglutinins - disialosyl antibodies" xsd:string property_value: alternative:term "Chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies" xsd:string [Term] id: Orphanet:71281 name: Rare central nervous system and retinal vascular disease is_a: Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:71289 name: Radio-ulnar synostosis - amegakaryocytic thrombocytopenia xref: ICD10:Q87.2 xref: OMIM:605432 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:275729 ! Rare hemorrhagic disorder due to a constitutional thrombocytopenia relationship: part_of Orphanet:93459 ! Syndrome with synostosis or other joint formation defect property_value: alternative:term "ATRUS syndrome" xsd:string [Term] id: Orphanet:71290 name: Familial platelet syndrome with predisposition to acute myelogenous leukemia xref: ICD10:D69.4 xref: OMIM:601399 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:98456 ! Dense granule disease property_value: alternative:term "Familial platelet disorder with associated myeloid malignancy" xsd:string property_value: alternative:term "Familial platelet syndrome" xsd:string property_value: alternative:term "FPD/AML syndrome" xsd:string property_value: alternative:term "FPS/AML syndrome" xsd:string [Term] id: Orphanet:71291 name: Hereditary vascular retinopathy xref: OMIM:192315 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183503 ! Genetic central nervous system and retinal vascular disease relationship: part_of Orphanet:247691 ! Retinal vasculopathy and cerebral leukodystrophy relationship: part_of Orphanet:98657 ! Genetic vitreous-retinal disease property_value: alternative:term "Hereditary vascular retinopathy - Raynaud phenomenon - migraine" xsd:string property_value: alternative:term "HVR" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary vascular retinopathy (HVR) is a phenotypic variant of a group of inherited small vessel disorders known as retinal vasculopathy and cerebral leukodystrophy (RVCL; see this term) and characterized by progressive visual impairment, strokes and often associated with Raynaud phenomenon (see this term) and migraine-like symptoms." xsd:string [Term] id: Orphanet:713 name: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency xref: ICD10:D55.2 xref: OMIM:300653 xref: SNOMED CT:124335006 xref: UMLS:C0684324 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182076 ! Syndromic neurometabolic disease with X-linked intellectual deficit relationship: part_of Orphanet:206959 ! Muscular glycogenosis relationship: part_of Orphanet:79201 ! Glycogen storage disease relationship: part_of Orphanet:98372 ! Hemolytic anemia due to a disorder of glycolytic enzymes property_value: alternative:term "Glycogenosis due to phosphoglycerate kinase 1 deficiency" xsd:string property_value: alternative:term "GSD due to phosphoglycerate kinase 1 deficiency" xsd:string [Term] id: Orphanet:714 name: Hemolytic anemia due to diphosphoglycerate mutase deficiency xref: ICD10:D55.2 xref: OMIM:222800 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:91088 ! Other metabolic disease relationship: part_of Orphanet:98372 ! Hemolytic anemia due to a disorder of glycolytic enzymes [Term] id: Orphanet:71493 name: Familial thrombocytosis xref: ICD10:D75.2 xref: OMIM:187950 xref: OMIM:300331 xref: OMIM:601977 xref: OMIM:614521 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:248401 ! Rare thrombotic disorder due to a constitutional platelet anomaly property_value: alternative:term "Familial thrombocythemia" xsd:string property_value: alternative:term "Hereditary thrombocythemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation." xsd:string [Term] id: Orphanet:715 name: Glycogen storage disease due to muscle phosphorylase kinase deficiency xref: ICD10:E74.0 xref: OMIM:300559 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206959 ! Muscular glycogenosis relationship: part_of Orphanet:370 ! Glycogen storage disease due to phosphorylase kinase deficiency property_value: alternative:term "Glycogen storage disease type 9D" xsd:string property_value: alternative:term "Glycogen storage disease type 9E" xsd:string property_value: alternative:term "Glycogen storage disease type IXd" xsd:string property_value: alternative:term "Glycogen storage disease type IXe" xsd:string property_value: alternative:term "Glycogenosis due to muscle phosphorylase kinase deficiency" xsd:string property_value: alternative:term "Glycogenosis type 9D" xsd:string property_value: alternative:term "Glycogenosis type 9E" xsd:string property_value: alternative:term "Glycogenosis type IXd" xsd:string property_value: alternative:term "Glycogenosis type IXe" xsd:string property_value: alternative:term "GSD due to muscle phosphorylase kinase deficiency" xsd:string property_value: alternative:term "GSD type 9D" xsd:string property_value: alternative:term "GSD type 9E" xsd:string property_value: alternative:term "GSD type IXd" xsd:string property_value: alternative:term "GSD type IXe" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." xsd:string [Term] id: Orphanet:71505 name: Cancer-associated retinopathy is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101949 ! Rare acquired eye disease relationship: part_of Orphanet:36388 ! Paraneoplastic neurologic syndrome property_value: alternative:term "CAR syndrome" xsd:string property_value: alternative:term "Paraneoplastic retinopathy" xsd:string [Term] id: Orphanet:71517 name: Rapid-onset dystonia-parkinsonism xref: ICD10:G24.1 xref: OMIM:128235 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:306666 ! Rare parkinsonian syndrome due to neurodegenerative disease relationship: part_of Orphanet:307055 ! Rare parkinsonian syndrome due to genetic neurodegenerative disease relationship: part_of Orphanet:98203 ! Combined dystonia property_value: alternative:term "Dystonia 12" xsd:string property_value: alternative:term "DYT12" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." xsd:string [Term] id: Orphanet:71518 name: Benign paroxysmal torticollis of infancy xref: ICD10:G24.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:200037 ! Paroxysmal dystonia [Term] id: Orphanet:71519 name: Psychogenic movement disorders xref: ICD10:F44.4 is_a: Orphanet:102003 ! Rare movement disorder relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Psychogenic dystonia" xsd:string [Term] id: Orphanet:71526 name: Obesity due to pro-opiomelanocortin deficiency xref: ICD10:E66.8 xref: OMIM:609734 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:179490 ! Obesity due to congenital leptin resistance property_value: alternative:term "POMC deficiency" xsd:string [Term] id: Orphanet:71528 name: Obesity due to prohormone convertase I deficiency xref: ICD10:E66.8 xref: OMIM:600955 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:179490 ! Obesity due to congenital leptin resistance relationship: part_of Orphanet:181390 ! Hypogonadotropic hypogonadism associated with other endocrinopathies property_value: alternative:term "PCI deficiency" xsd:string [Term] id: Orphanet:71529 name: Obesity due to melanocortin 4 receptor deficiency xref: ICD10:E66.8 xref: OMIM:601665 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:179490 ! Obesity due to congenital leptin resistance property_value: alternative:term "MC4R deficiency" xsd:string [Term] id: Orphanet:716 name: Phenylketonuria xref: ICD10:E70.0 xref: ICD10:E70.1 xref: MEDDRA:10034872 xref: MESH:D010661 xref: OMIM:261600 xref: UMLS:C0031485 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:225689 ! Amino acid or protein metabolism disease with epilepsy relationship: part_of Orphanet:284814 ! Disorder of phenylalanine metabolism relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "PAH deficiency" xsd:string property_value: alternative:term "Phenylalanine hydroxylase deficiency" xsd:string property_value: alternative:term "PKU" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients." xsd:string [Term] id: Orphanet:717 name: Catecholamine-producing tumor xref: ICD10:C74.1 xref: ICD10:C75.5 xref: ICD10:D35.0 xref: ICD10:D35.6 is_a: Orphanet:100091 ! Adrenal/paraganglial tumor is_a: Orphanet:156629 ! Genetic hypertension [Term] id: Orphanet:718 name: Isolated Pierre Robin syndrome xref: ICD10:Q87.0 xref: OMIM:261800 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature property_value: alternative:term "Isolated Pierre Robin sequence" xsd:string [Term] id: Orphanet:71859 name: Rare genetic neurological disease is_a: Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:71862 name: Retinal dystrophy xref: MEDDRA:10038857 xref: MESH:D058499 xref: SNOMED CT:314407005 xref: UMLS:C0854723 is_a: Orphanet:98657 ! Genetic vitreous-retinal disease [Term] id: Orphanet:71864 name: Muscular channelopathy is_a: Orphanet:68381 ! Neuromuscular disease [Term] id: Orphanet:72 name: Angelman syndrome xref: ICD10:Q93.5 xref: MEDDRA:10049004 xref: MESH:D017204 xref: OMIM:105830 xref: SNOMED CT:76880004 xref: UMLS:C0162635 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:166469 ! Chromosomal anomaly with epilepsy as a major feature relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:98033 ! Rare neurologic disease with psychiatric involvement [Term] id: Orphanet:720 name: Pili bifurcati xref: ICD10:L67.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79366 ! Isolated hair shaft abnormality property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle." xsd:string [Term] id: Orphanet:721 name: Gray platelet syndrome xref: ICD10:D69.1 xref: MESH:D055652 xref: OMIM:139090 xref: SNOMED CT:51720005 xref: UMLS:C0272302 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98455 ! Alpha granule disease property_value: alternative:term "Alpha storage pool deficiency" xsd:string property_value: alternative:term "GPS" xsd:string property_value: alternative:term "Platelet alpha-granule deficiency" xsd:string [Term] id: Orphanet:722 name: Hypoplasminogenemia xref: OMIM:217090 xref: SNOMED CT:95840007 xref: UMLS:C0398621 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:182222 ! Rare systemic disease relationship: part_of Orphanet:271870 ! Rare genetic systemic or rheumatologic disease property_value: alternative:term "Plasminogen deficiency type 1" xsd:string [Term] id: Orphanet:723 name: Pneumocystosis xref: ICD10:B59+ xref: SNOMED CT:88860002 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163591 ! Rare mycosis [Term] id: Orphanet:724 name: Idiopathic acute eosinophilic pneumonia xref: ICD10:J82 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182101 ! Idiopathic eosinophilic pneumonia property_value: alternative:term "IAEP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, without concurring allergy or infection." xsd:string [Term] id: Orphanet:725 name: Epileptic encephalopathy with continuous spike-and-wave during sleep xref: ICD10:F80.3 xref: OMIM:245570 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98259 ! Childhood-onset epilepsy syndrome property_value: alternative:term "CSWSS syndrome" xsd:string property_value: alternative:term "Electrical status epilepticus during slow sleep" xsd:string property_value: alternative:term "ESES" xsd:string [Term] id: Orphanet:726 name: Alpers syndrome xref: ICD10:G31.8 xref: MEDDRA:10062943 xref: MESH:D002549 xref: OMIM:203700 xref: SNOMED CT:20415001 xref: UMLS:C0205710 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:225700 ! Mitochondrial disease with epilepsy relationship: part_of Orphanet:225703 ! Mitochondrial disease with peripheral neuropathy relationship: part_of Orphanet:35698 ! Mitochondrial DNA depletion syndrome relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "Alpers progressive sclerosing poliodystrophy" xsd:string property_value: alternative:term "Alpers-Huttenlocher syndrome" xsd:string property_value: alternative:term "Progressive neuronal degeneration of childhood with liver disease" xsd:string [Term] id: Orphanet:727 name: Microscopic polyangiitis xref: ICD10:M31.7 xref: MEDDRA:10063344 xref: MESH:D055953 xref: UMLS:C0343192 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:156152 ! Anti-neutrophil cytoplasmic antibody-associated vasculitis relationship: part_of Orphanet:209007 ! Systemic inflammatory disease associated with an acquired peripheral neuropathy relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "Hypersensitivity angiitis" xsd:string property_value: alternative:term "Micropolyangiitis" xsd:string property_value: alternative:term "Microscopic polyarteritis" xsd:string property_value: alternative:term "MPA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs." xsd:string [Term] id: Orphanet:728 name: Relapsing polychondritis xref: ICD10:M94.1 xref: MEDDRA:10038304 xref: MESH:D011081 xref: SNOMED CT:72275000 xref: UMLS:C0032453 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182228 ! Systemic autoimmune disease relationship: part_of Orphanet:93551 ! Secondary glomerular disease [Term] id: Orphanet:729 name: Polycythemia vera xref: ICD10:D45 xref: MEDDRA:10036057 xref: MESH:D011087 xref: OMIM:263300 xref: SNOMED CT:109992005 xref: SNOMED CT:128841001 xref: UMLS:C0032463 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:98274 ! Myeloproliferative neoplasm relationship: part_of Orphanet:98427 ! Polycythemia property_value: alternative:term "Acquired primary erythocytosis" xsd:string property_value: alternative:term "Erythremia" xsd:string property_value: alternative:term "Osler-Vaquez disease" xsd:string property_value: alternative:term "Polycythemia rubra vera" xsd:string property_value: alternative:term "PV" xsd:string property_value: alternative:term "Vaquez disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production." xsd:string [Term] id: Orphanet:73 name: Gorham-Stout disease xref: ICD10:M89.5 xref: OMIM:123880 xref: SNOMED CT:1515008 xref: UMLS:C0029438 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:211277 ! Complex - combined vascular malformation relationship: part_of Orphanet:235832 ! Congenital vascular bone syndrome property_value: alternative:term "Diffuse cystic angiomatosis of bone" xsd:string property_value: alternative:term "Essential osteolysis" xsd:string property_value: alternative:term "Gorham disease" xsd:string property_value: alternative:term "Gorham syndrome" xsd:string property_value: alternative:term "Idiopathic massive osteolysis" xsd:string property_value: alternative:term "Massive osteolysis" xsd:string property_value: alternative:term "Phantom bone disease" xsd:string property_value: alternative:term "Progressive massive osteolysis" xsd:string property_value: alternative:term "Vanishing bone disease" xsd:string [Term] id: Orphanet:73014 name: Intractable diarrhea of infancy is_a: Orphanet:117569 ! Rare intestinal disease property_value: alternative:term "IDI" xsd:string [Term] id: Orphanet:731 name: Autosomal recessive polycystic kidney disease xref: ICD10:Q61.1 xref: MEDDRA:10036047 xref: MESH:D017044 xref: OMIM:263200 xref: SNOMED CT:28770003 xref: UMLS:C0085548 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:93587 ! Familial cystic renal disease relationship: part_of Orphanet:98048 ! Rare male infertility [Term] id: Orphanet:732 name: Polymyositis xref: ICD10:M33.2 xref: MEDDRA:10036102 xref: MESH:D017285 xref: SNOMED CT:31384009 xref: UMLS:C0085655 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:182228 ! Systemic autoimmune disease relationship: part_of Orphanet:93551 ! Secondary glomerular disease relationship: part_of Orphanet:98482 ! Idiopathic inflammatory myopathy property_value: alternative:term "Adult-onset polymyositis" xsd:string property_value: alternative:term "PM" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes." xsd:string [Term] id: Orphanet:73217 name: Mullerian aplasia xref: MESH:C537371 xref: SNOMED CT:253828000 xref: UMLS:C0431637 is_a: Orphanet:156622 ! Genetic urogenital tract malformation is_a: Orphanet:180065 ! Non-syndromic uterovaginal malformation is_a: Orphanet:183731 ! Rare genetic gynecological and obstetrical diseases relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 property_value: alternative:term "Mullerian duct failure" xsd:string [Term] id: Orphanet:73220 name: X-linked intellectual deficit - hypotonic face xref: OMIM:309580 is_a: Orphanet:263355 ! ATR-X-related syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown [Term] id: Orphanet:73223 name: Global developmental delay - osteopenia - ectodermal defect xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:73224 name: Tubular renal disease - cardiomyopathy xref: ICD10:N25.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:217619 ! Syndrome associated with dilated cardiomyopathy [Term] id: Orphanet:73229 name: Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures xref: ICD10:H35.0 xref: ICD10:R31 xref: OMIM:611773 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183503 ! Genetic central nervous system and retinal vascular disease relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease relationship: part_of Orphanet:93550 ! Basement membrane disease property_value: alternative:term "HANAC syndrome" xsd:string property_value: alternative:term "Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome" xsd:string [Term] id: Orphanet:73230 name: Ossification anomalies - psychomotor development delay xref: ICD10:Q79.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:182108 ! Thoracic malformation relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:93447 ! Primary bone dysplasia with defective bone mineralization [Term] id: Orphanet:73245 name: Spinal muscular atrophy - Dandy-Walker malformation - cataracts xref: ICD10:G12.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:207012 ! Spinal muscular atrophy associated with central nervous system anomaly relationship: part_of Orphanet:269546 ! Syndrome with a Dandy-Walker malformation as major feature [Term] id: Orphanet:73246 name: Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:73247 name: Eosinophilic esophagitis xref: ICD10:K20 xref: MEDDRA:10064212 xref: MESH:D057765 xref: OMIM:610247 xref: OMIM:613412 xref: SNOMED CT:235599003 xref: UMLS:C0341106 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:101936 ! Rare gastro-esophageal disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized by the infiltration of eosinophils in the esophagus which manifests with vomiting, abdominal pain, dysphagia, food impaction and feeding disorders." xsd:string [Term] id: Orphanet:73256 name: Central neurocytoma xref: SNOMED CT:128858006 xref: UMLS:C0206719 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:251924 ! Neuronal tumor [Term] id: Orphanet:73260 name: Paracoccidioidomycosis xref: ICD10:B41 xref: MEDDRA:10061906 xref: MESH:D010229 xref: SNOMED CT:59925007 xref: UMLS:C0030409 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163591 ! Rare mycosis [Term] id: Orphanet:73263 name: Zygomycosis xref: ICD10:B46 xref: MEDDRA:10028098 xref: MEDDRA:10061418 xref: MESH:D009091 xref: MESH:D020096 xref: SNOMED CT:59277005 xref: SNOMED CT:76627001 xref: UMLS:C0026718 xref: UMLS:C0043541 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163591 ! Rare mycosis property_value: alternative:term "Mucormycosis" xsd:string [Term] id: Orphanet:73267 name: Hypernychthemeral syndrome xref: ICD10:G47.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:68354 ! Sleep disorder property_value: alternative:term "Non-24-hour sleep-wake syndrome" xsd:string [Term] id: Orphanet:73271 name: Bleeding diathesis due to a collagen receptor defect xref: ICD10:D69.8 xref: OMIM:614200 xref: OMIM:614201 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:275736 ! Rare hemorrhagic disorder due to a platelets receptors defect [Term] id: Orphanet:73272 name: Growth delay due to insulin-like growth factor type 1 deficiency xref: ICD10:E34.3 xref: OMIM:608747 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181393 ! Growth hormone insensitivity syndrome property_value: alternative:term "Growth delay - deafness- intellectual deficit" xsd:string property_value: alternative:term "IGF-1 deficiency" xsd:string property_value: alternative:term "Primary insulin-like growth factor deficiency" xsd:string [Term] id: Orphanet:73273 name: Growth delay due to insulin-like growth factor I resistance xref: ICD10:E34.3 xref: OMIM:270450 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:181393 ! Growth hormone insensitivity syndrome property_value: alternative:term "Resistance to IGF-1" xsd:string [Term] id: Orphanet:73274 name: Acquired hemophilia xref: ICD10:D68.4 xref: ICD10:D80.8 xref: MEDDRA:10053745 xref: UMLS:C1096116 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:166775 ! Rare hemorrhagic disorder due to an acquired coagulation factor defect [Term] id: Orphanet:733 name: Familial adenomatous polyposis xref: ICD10:D12.6 xref: OMIM:175100 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:104010 ! Intestinal polyposis syndrome relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:271835 ! Genetic digestive tract tumor relationship: part_of Orphanet:363314 ! Genetic intestinal polyposis property_value: alternative:term "Colorectal adenomatous polyposis" xsd:string property_value: alternative:term "Familial polyposis coli" xsd:string property_value: alternative:term "FAP" xsd:string [Term] id: Orphanet:734 name: Alpha delta granule deficiency xref: ICD10:D69.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98454 ! Platelet storage pool disease property_value: alternative:term "Alpha dense granule deficiency" xsd:string [Term] id: Orphanet:73423 name: Acute ackee fruit intoxication xref: ICD10:T62.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108999 ! Rare intoxication property_value: alternative:term "Acute akee fruit intoxication" xsd:string property_value: alternative:term "Acute intoxication by Blighia sapida" xsd:string property_value: alternative:term "Jamaican vomiting sickness" xsd:string property_value: alternative:term "Jamaican vomiting syndrome" xsd:string [Term] id: Orphanet:735 name: Porokeratosis of Mibelli xref: ICD10:Q82.8 xref: OMIM:175800 xref: SNOMED CT:80432009 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:183444 ! Genetic porokeratosis relationship: part_of Orphanet:79358 ! Porokeratosis [Term] id: Orphanet:737 name: Porokeratosis plantaris palmaris et disseminata xref: ICD10:Q82.8 xref: OMIM:175850 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183444 ! Genetic porokeratosis relationship: part_of Orphanet:2338 ! Isolated punctate palmoplantar keratoderma relationship: part_of Orphanet:79358 ! Porokeratosis property_value: alternative:term "Palmar, plantar and disseminated porokeratosis" xsd:string [Term] id: Orphanet:738 name: Porphyria xref: ICD10:E80 xref: MEDDRA:10036181 xref: MEDDRA:10061356 xref: MESH:D011164 xref: SNOMED CT:29094004 xref: SNOMED CT:371628009 xref: SNOMED CT:418470004 xref: UMLS:C0032708 is_a: Orphanet:183490 ! Genetic photodermatosis is_a: Orphanet:309813 ! Disorder of porphyrin and haem metabolism is_a: Orphanet:79387 ! Metabolic disease with skin involvement is_a: Orphanet:79390 ! Rare photodermatosis is_a: Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease [Term] id: Orphanet:739 name: Prader-Willi syndrome xref: ICD10:Q87.1 xref: MEDDRA:10036476 xref: MESH:D011218 xref: OMIM:176270 xref: SNOMED CT:89392001 xref: UMLS:C0032897 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:181387 ! Syndrome with hypogonadotropic hypogonadism relationship: part_of Orphanet:240371 ! Syndromic obesity relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:98033 ! Rare neurologic disease with psychiatric involvement relationship: part_of Orphanet:98048 ! Rare male infertility property_value: alternative:term "Prader-Labhart-Willi syndrome" xsd:string property_value: alternative:term "Willi-Prader syndrome" xsd:string [Term] id: Orphanet:74 name: Angiostrongyliasis xref: ICD10:B81.3 xref: ICD10:B83.2 xref: MEDDRA:10069517 xref: MESH:C536369 xref: SNOMED CT:61750000 xref: UMLS:C0392662 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163588 ! Rare parasitic disease [Term] id: Orphanet:740 name: Hutchinson-Gilford progeria syndrome xref: ICD10:E34.8 xref: MEDDRA:10036794 xref: MESH:D011371 xref: OMIM:176670 xref: SNOMED CT:238870004 xref: UMLS:C0033300 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:139033 ! Progeroid syndrome relationship: part_of Orphanet:363245 ! Genetic progeroid syndrome relationship: part_of Orphanet:79389 ! Premature aging relationship: part_of Orphanet:93449 ! Primary osteolysis relationship: part_of Orphanet:98709 ! Ectodermal malformation syndrome associated with ocular features property_value: alternative:term "Progeria" xsd:string [Term] id: Orphanet:741 name: Familial mitral valve prolapse xref: ICD10:Q23.3 xref: OMIM:157700 xref: SNOMED CT:233858000 xref: UMLS:C0340364 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:95464 ! Congenital mitral valve insufficiency and/or stenosis [Term] id: Orphanet:742 name: Prolidase deficiency xref: ICD10:E72.8 xref: MESH:D056732 xref: OMIM:170100 xref: SNOMED CT:360994007 xref: SNOMED CT:361010007 xref: SNOMED CT:410055005 xref: UMLS:C0268532 xref: UMLS:C1534653 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79187 ! Disorder of peptide metabolism relationship: part_of Orphanet:79387 ! Metabolic disease with skin involvement relationship: part_of Orphanet:89832 ! Syndromic lymphedema property_value: alternative:term "Hyperimidodipeptiduria" xsd:string [Term] id: Orphanet:744 name: Proteus syndrome xref: ICD10:Q87.3 xref: MESH:D016715 xref: OMIM:176920 xref: SNOMED CT:23150001 xref: UMLS:C0085261 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations relationship: part_of Orphanet:166466 ! Neurocutaneous syndrome with epilepsy relationship: part_of Orphanet:211240 ! Genetic vascular anomaly relationship: part_of Orphanet:211277 ! Complex - combined vascular malformation relationship: part_of Orphanet:294057 ! Rare nevus relationship: part_of Orphanet:306498 ! PTEN hamartoma tumor syndrome relationship: part_of Orphanet:93460 ! Overgrowth syndrome property_value: alternative:term "Partial gigantism - nevi - hemihypertrophy - macrocephaly" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems." xsd:string [Term] id: Orphanet:745 name: Hereditary thrombophilia due to congenital protein C deficiency xref: ICD10:D68.2 xref: OMIM:176860 xref: OMIM:612304 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:217454 ! Rare hereditary thrombophilia property_value: alternative:term "Hereditary thrombophilia due to PC deficiency" xsd:string [Term] id: Orphanet:746 name: Mitochondrial trifunctional protein deficiency xref: ICD10:G71.3 xref: MESH:D024741 xref: OMIM:609015 xref: SNOMED CT:237999008 xref: UMLS:C0342786 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206966 ! Mitochondrial myopathy relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:217591 ! Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy relationship: part_of Orphanet:309115 ! Disorder of mitochondrial fatty acid oxidation property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mitochondrial trifunctional protein (MTP) deficiency is an autosomal recessive disorder of mitochondrial fatty acid oxidation which main manifestations include hypoketotic hypoglycemia in infancy or early childhood, along with hypotonia and often fatal hypertrophic cardiomyopathy, or sudden unexplained death. Later onset forms of the disease have been described, with peripheral neuropathy and episodes of rhabdomyolysis or muscular weakness related to myopathy." xsd:string [Term] id: Orphanet:747 name: Idiopathic pulmonary alveolar proteinosis xref: ICD10:J84.0 xref: OMIM:610910 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:264740 ! Primary interstitial lung disease specific to adulthood property_value: alternative:term "Autoimmune PAP" xsd:string property_value: alternative:term "Autoimmune pulmonary alveolar proteinosis" xsd:string property_value: alternative:term "Idiopathic PAP" xsd:string [Term] id: Orphanet:748 name: Mendelian susceptibility to mycobacterial diseases xref: ICD10:D84.8 xref: OMIM:209950 is_a: Orphanet:183710 ! Genetic susceptibility to infections due to particular pathogens property_value: alternative:term "Idiopathic infection caused by BCG or atypical mycobacteria" xsd:string property_value: alternative:term "Mendelian susceptibility to atypical mycobacteria" xsd:string property_value: alternative:term "Mendelian susceptibility to mycobacterial infections" xsd:string property_value: alternative:term "MSMD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized." xsd:string [Term] id: Orphanet:749 name: Congenital prekallikrein deficiency xref: ICD10:D68.8 xref: OMIM:612423 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:68334 ! Rare hemorrhagic disorder due to a constitutional coagulation factors defect [Term] id: Orphanet:750 name: Pseudoachondroplasia xref: ICD10:Q77.8 xref: MESH:C535819 xref: OMIM:177170 xref: SNOMED CT:22567005 xref: UMLS:C0410538 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:93429 ! Multiple epiphyseal dysplasia and pseudoachondroplasia property_value: alternative:term "Pseudoachondroplastic dysplasia" xsd:string property_value: alternative:term "Pseudoachondroplastic spondyloepiphyseal dysplasia" xsd:string [Term] id: Orphanet:75110 name: Myiasis xref: ICD10:B87 xref: MEDDRA:10028586 xref: MESH:D009198 xref: SNOMED CT:60412004 xref: UMLS:C0027030 is_a: Orphanet:163588 ! Rare parasitic disease [Term] id: Orphanet:752 name: 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency xref: ICD10:E29.1 xref: OMIM:264300 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:90787 ! 46,XY disorder of sex development due to testicular steroidogenesis defect property_value: alternative:term "17-beta-hydroxysteroid dehydrogenase 3 deficiency" xsd:string property_value: alternative:term "17-ketoreductase deficiency" xsd:string property_value: alternative:term "17-ketosteroidreductase deficiency" xsd:string property_value: alternative:term "Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" xsd:string [Term] id: Orphanet:75233 name: Wolman disease xref: ICD10:E75.5 xref: MEDDRA:10053687 xref: MESH:D015223 xref: OMIM:278000 xref: SNOMED CT:238074007 xref: SNOMED CT:82500001 xref: UMLS:C0043208 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:275761 ! Lysosomal acid lipase deficiency relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy [Term] id: Orphanet:75234 name: Cholesteryl ester storage disease xref: ICD10:E75.5 xref: OMIM:278000 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:275761 ! Lysosomal acid lipase deficiency property_value: alternative:term "Cholesterol ester storage disease" xsd:string [Term] id: Orphanet:75249 name: Familial isolated restrictive cardiomyopathy xref: ICD10:I42.5 xref: OMIM:115210 xref: OMIM:609578 xref: OMIM:612422 xref: OMIM:615248 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:217635 ! Familial restrictive cardiomyopathy property_value: alternative:term "Familial or idiopathic restrictive cardiomyopathy" xsd:string [Term] id: Orphanet:753 name: 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency xref: ICD10:Q56.1 xref: OMIM:264600 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98086 ! 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue property_value: alternative:term "Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency" xsd:string [Term] id: Orphanet:75325 name: Osteosclerosis - ichthyosis - premature ovarian failure xref: MESH:C536064 xref: OMIM:609993 xref: UMLS:C1864942 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:281244 ! Autosomal ichthyosis syndrome with other associated signs relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density relationship: part_of Orphanet:95710 ! Non-acquired premature ovarian failure property_value: alternative:term "Sclerosing dysplasia of bone - ichthyosis - premature ovarian failure" xsd:string [Term] id: Orphanet:75326 name: Retinal arterial tortuosity xref: ICD10:Q14.1 xref: OMIM:180000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183503 ! Genetic central nervous system and retinal vascular disease relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease property_value: alternative:term "Retinal arteriolar tortuosity" xsd:string property_value: alternative:term "Retinal hemorrhage with vascular tortuosity" xsd:string property_value: alternative:term "Tortuosity of retinal arteries" xsd:string [Term] id: Orphanet:75327 name: North Carolina macular dystrophy xref: ICD10:H35.5 xref: MESH:C537835 xref: OMIM:136550 xref: SNOMED CT:312925009 xref: UMLS:C0730294 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98665 ! Colobomatous and areolar dystrophy property_value: alternative:term "CAPE dystrophy" xsd:string property_value: alternative:term "CAPED" xsd:string property_value: alternative:term "Central areolar pigment epithelial dystrophy" xsd:string property_value: alternative:term "Central retinal pigment epithelial dystrophy" xsd:string property_value: alternative:term "MCDR1" xsd:string property_value: alternative:term "NCMD" xsd:string property_value: alternative:term "North Carolina macular dystrophy, retinal 1" xsd:string property_value: alternative:term "Progressive foveal dystrophy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination." xsd:string [Term] id: Orphanet:75373 name: Progressive bifocal chorioretinal atrophy xref: MESH:C535356 xref: OMIM:600790 xref: UMLS:C1833321 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:71862 ! Retinal dystrophy property_value: alternative:term "CRAPB" xsd:string property_value: alternative:term "PBCRA" xsd:string [Term] id: Orphanet:75374 name: Bradyopsia xref: ICD10:H53.8 xref: OMIM:608415 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98657 ! Genetic vitreous-retinal disease property_value: alternative:term "PERRS" xsd:string property_value: alternative:term "Prolonged electroretinal response supression" xsd:string [Term] id: Orphanet:75376 name: Familial drusen xref: ICD10:H35.5 xref: OMIM:126600 xref: OMIM:126700 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:227786 ! Familial flecked retinopathy relationship: part_of Orphanet:98667 ! Disease predisposing to age-related macular degeneration property_value: alternative:term "DHRD" xsd:string property_value: alternative:term "Dominant drusen" xsd:string property_value: alternative:term "Dominant radial drusen" xsd:string property_value: alternative:term "Doyne honeycomb retinal dystrophy" xsd:string property_value: alternative:term "Malattia leventinese" xsd:string [Term] id: Orphanet:75377 name: Central areolar choroidal dystrophy xref: ICD10:H31.2 xref: MESH:C535358 xref: OMIM:215500 xref: OMIM:613105 xref: OMIM:613144 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98665 ! Colobomatous and areolar dystrophy property_value: alternative:term "Areolar atrophy of the macula" xsd:string property_value: alternative:term "CACD" xsd:string property_value: alternative:term "Central areolar choroidal sclerosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity." xsd:string [Term] id: Orphanet:75378 name: Oligocone trichromacy is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:71862 ! Retinal dystrophy property_value: alternative:term "Oligocone syndrome" xsd:string [Term] id: Orphanet:75381 name: Cystoid macular dystrophy xref: ICD10:H35.5 xref: OMIM:153880 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy property_value: alternative:term "Autosomal dominant cystoid macular edema" xsd:string property_value: alternative:term "DCMD" xsd:string property_value: alternative:term "Familial macular edema" xsd:string [Term] id: Orphanet:75382 name: Oguchi disease xref: ICD10:H53.6 xref: MESH:C537743 xref: OMIM:258100 xref: OMIM:613411 xref: SNOMED CT:193687000 xref: UMLS:C1306122 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:71862 ! Retinal dystrophy property_value: alternative:term "Congenital stationary night blindness, Oguchi type" xsd:string property_value: alternative:term "Oguchi syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon." xsd:string [Term] id: Orphanet:75389 name: Brain malformation - congenital heart disease - postaxial polydactyly xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:156532 ! Rare syndrome with cardiac malformations relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Goossens-Devriendt syndrome" xsd:string [Term] id: Orphanet:75391 name: Immunodeficiency with natural-killer cell deficiency xref: ICD10:D84.8 xref: OMIM:609981 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101988 ! Primary immunodeficiency due to a defect in innate immunity [Term] id: Orphanet:75392 name: Ehlers-Danlos syndrome, periodontitis type xref: ICD10:Q79.6 xref: OMIM:130080 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98027 ! Rare disease with odontological manifestation relationship: part_of Orphanet:98249 ! Ehlers-Danlos syndrome property_value: alternative:term "EDS VIII" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome type 8" xsd:string [Term] id: Orphanet:754 name: Androgen insensitivity syndrome xref: ICD10:E34.5 xref: MEDDRA:10056292 xref: MESH:D013734 xref: SNOMED CT:12313004 xref: SNOMED CT:52832001 xref: UMLS:C0039585 xref: UMLS:C0936016 is_a: Orphanet:325351 ! 46,XY disorder of sex development of endocrine origin is_a: Orphanet:325632 ! 46,XY disorder of sex development of gynecological interest is_a: Orphanet:325713 ! Genetic 46,XY disorder of sex development of endocrine origin is_a: Orphanet:98048 ! Rare male infertility relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "AIS" xsd:string property_value: alternative:term "Androgen resistance syndrome" xsd:string property_value: alternative:term "Goldberg-Maxwell syndrome" xsd:string property_value: alternative:term "Morris syndrome" xsd:string property_value: alternative:term "Testicular feminization syndrome" xsd:string [Term] id: Orphanet:75496 name: Ehlers-Danlos syndrome, progeroid type xref: ICD10:Q79.6 xref: MESH:C536201 xref: OMIM:130070 xref: OMIM:615349 xref: UMLS:C1869122 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309450 ! Disorder of O-xylosylglycan synthesis relationship: part_of Orphanet:371195 ! Congenital disorder of glycosylation-related bone disorder relationship: part_of Orphanet:371200 ! Congenital disorder of glycosylation with skin involvement relationship: part_of Orphanet:93446 ! Primary bone dysplasia with decreased bone density relationship: part_of Orphanet:98249 ! Ehlers-Danlos syndrome property_value: alternative:term "B4GALT7-CDG" xsd:string property_value: alternative:term "Defective biosynthesis of proteodermatan sulfate" xsd:string property_value: alternative:term "EDS, progeroid type" xsd:string property_value: alternative:term "Galactosyltransferase I deficiency" xsd:string property_value: alternative:term "PDS" xsd:string property_value: alternative:term "XGPT deficiency" xsd:string property_value: alternative:term "Xylosylprotein 4-beta-galactosyltransferase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." xsd:string [Term] id: Orphanet:75497 name: X-linked Ehlers-Danlos syndrome xref: ICD10:Q79.6 xref: OMIM:305200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98249 ! Ehlers-Danlos syndrome property_value: alternative:term "EDS V" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome type 5" xsd:string [Term] id: Orphanet:755 name: Leydig cell hypoplasia xref: ICD10:Q56.1 xref: MEDDRA:10024406 xref: OMIM:238320 xref: UMLS:C0860158 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:325357 ! 46,XY disorder of sex development due to impaired androgen production relationship: part_of Orphanet:98048 ! Rare male infertility property_value: alternative:term "46,XY disorder of sex development due to LH resistance or LHB deficiency" xsd:string property_value: alternative:term "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" xsd:string property_value: alternative:term "46,XY DSD due to LH resistance or LHB deficiency" xsd:string property_value: alternative:term "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" xsd:string property_value: alternative:term "Male pseudohermaphrodism due to LH resistance or LHB deficiency" xsd:string property_value: alternative:term "Male pseudohermaphrodism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" xsd:string [Term] id: Orphanet:75501 name: Ehlers-Danlos syndrome, fibronectinemic type xref: ICD10:Q79.6 xref: OMIM:225310 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98249 ! Ehlers-Danlos syndrome property_value: alternative:term "EDS X" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome type 10" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality" xsd:string property_value: alternative:term "Ehlers-Danlos syndrome, fibronectin-deficient" xsd:string [Term] id: Orphanet:75508 name: Angio-osteohypotrophic syndrome is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:235832 ! Congenital vascular bone syndrome property_value: alternative:term "Phlebectatic osteohypoplastic angiodysplasia" xsd:string property_value: alternative:term "Servelle-Martorell syndrome" xsd:string [Term] id: Orphanet:75563 name: X-linked sideroblastic anemia xref: ICD10:D64.0 xref: MESH:C536761 xref: OMIM:300751 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:309813 ! Disorder of porphyrin and haem metabolism relationship: part_of Orphanet:98362 ! Constitutional sideroblastic anemia property_value: alternative:term "XLSA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid." xsd:string [Term] id: Orphanet:75564 name: Acquired idiopathic sideroblastic anemia xref: ICD10:D64.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:1047 ! Sideroblastic anemia relationship: part_of Orphanet:52688 ! Myelodysplastic syndromes property_value: alternative:term "AISA" xsd:string property_value: alternative:term "Primary acquired sideroblastic anemia" xsd:string property_value: alternative:term "RARS" xsd:string property_value: alternative:term "Refractory anemia with ringed sideroblasts" xsd:string [Term] id: Orphanet:75565 name: Tropical endomyocardial fibrosis xref: ICD10:I42.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:217720 ! Non-familial restrictive cardiomyopathy property_value: alternative:term "Davies disease" xsd:string property_value: alternative:term "TEMF" xsd:string [Term] id: Orphanet:75566 name: Loeffler endocarditis xref: ICD10:I42.3 xref: MEDDRA:10052841 xref: UMLS:C0206143 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:217720 ! Non-familial restrictive cardiomyopathy property_value: alternative:term "Eosinophilic endocarditis" xsd:string [Term] id: Orphanet:75567 name: Primary progressive freezing gait is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:306666 ! Rare parkinsonian syndrome due to neurodegenerative disease [Term] id: Orphanet:756 name: Pseudohypoaldosteronism type 1 xref: ICD10:N25.8 xref: MESH:D011546 xref: OMIM:177735 xref: OMIM:264350 xref: SNOMED CT:43941006 xref: UMLS:C0268436 xref: UMLS:C1449843 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183592 ! Genetic renal tubular disease relationship: part_of Orphanet:93603 ! Rare renal tubular disease property_value: alternative:term "PHA type 1" xsd:string [Term] id: Orphanet:757 name: Pseudohypoaldosteronism type 2 xref: ICD10:I15.1 xref: OMIM:145260 xref: OMIM:614491 xref: OMIM:614492 xref: OMIM:614495 xref: OMIM:614496 xref: SNOMED CT:15689008 xref: UMLS:C1449844 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:156629 ! Genetic hypertension property_value: alternative:term "Chloride shunt syndrome" xsd:string property_value: alternative:term "Familial hyperkalemic hypertension" xsd:string property_value: alternative:term "Gordon hyperkalemia-hypertension syndrome" xsd:string property_value: alternative:term "Hyperkaliemia - hypertension, Gordon type" xsd:string property_value: alternative:term "Hypertensive hyperkalemia" xsd:string property_value: alternative:term "Mineralocorticoid resistant hyperkalemia" xsd:string property_value: alternative:term "PHA2" xsd:string property_value: alternative:term "PHAII" xsd:string property_value: alternative:term "Spitzer-Weinstein syndrome" xsd:string [Term] id: Orphanet:75789 name: SIBIDS syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_33364 with label: Trichothiodystrophy" xsd:string [Term] id: Orphanet:75790 name: Pollitt syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_33364 with label: Trichothiodystrophy" xsd:string [Term] id: Orphanet:758 name: Pseudoxanthoma elasticum xref: ICD10:Q82.8 xref: MEDDRA:10037150 xref: MESH:D011561 xref: OMIM:177850 xref: OMIM:264800 xref: SNOMED CT:252246005 xref: UMLS:C0033847 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:139030 ! Malformation syndrome with connective tissue involvement relationship: part_of Orphanet:156629 ! Genetic hypertension relationship: part_of Orphanet:217635 ! Familial restrictive cardiomyopathy relationship: part_of Orphanet:228215 ! Genetic dermis elastic tissue disorder relationship: part_of Orphanet:98702 ! Connective tissue disease with eye involvement property_value: alternative:term "Gronblad-Strandberg-Touraine syndrome" xsd:string property_value: alternative:term "PXE" xsd:string [Term] id: Orphanet:75840 name: Congenital muscular dystrophy, Ullrich type xref: ICD10:G71.2 xref: OMIM:254090 xref: SNOMED CT:240062007 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:207090 ! Qualitative or quantitative defects of collagen 6 relationship: part_of Orphanet:97242 ! Congenital muscular dystrophy property_value: alternative:term "Scleroatonic muscular dystrophy" xsd:string property_value: alternative:term "UCMD" xsd:string property_value: alternative:term "Ullrich disease" xsd:string [Term] id: Orphanet:75857 name: 6q terminal deletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:262047 ! Partial deletion of the long arm of chromosome 6 [Term] id: Orphanet:75858 name: MORM syndrome xref: MESH:C536984 xref: UMLS:C1857802 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:71862 ! Retinal dystrophy property_value: alternative:term "Intellectual deficit - truncal obesity - retinal dystrophy - micropenis" xsd:string property_value: alternative:term "Mental retardation - truncal obesity - retinal dystrophy - micropenis" xsd:string [Term] id: Orphanet:759 name: Central precocious puberty xref: ICD10:E22.8 xref: OMIM:176400 xref: OMIM:615346 xref: SNOMED CT:237816004 xref: UMLS:C0342543 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:95708 ! Precocious puberty property_value: alternative:term "Gonadotropin-dependant precocious puberty" xsd:string [Term] id: Orphanet:76 name: Strongyloidiasis xref: ICD10:B78 xref: MEDDRA:10042254 xref: MESH:D013322 xref: SNOMED CT:1214006 xref: UMLS:C0038463 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163588 ! Rare parasitic disease property_value: alternative:term "Anguilluliasis" xsd:string property_value: alternative:term "Anguillulosis" xsd:string [Term] id: Orphanet:760 name: Purine nucleoside phosphorylase deficiency xref: ICD10:D81.5 xref: OMIM:613179 xref: SNOMED CT:60743005 xref: UMLS:C0268125 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency relationship: part_of Orphanet:79191 ! Disorder of purine metabolism property_value: alternative:term "PNP deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Purine nucleoside phosphorylase deficiency is a purine metabolism disorder resulting in combined T and B cell immunodeficiency that results in recurrent infections. Children are particularly prone to viral infections (chicken pox, mumps, cytomegalovirus) and vaccines, but suppurant bacterial infections have also been noted. One third of all patients have anemia, and 2/3 have neurological signs (ataxia, spastic tetraplegy and tremor)." xsd:string [Term] id: Orphanet:761 name: Immunoglobulin A vasculitis xref: ICD10:D69.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:156149 ! Immune complex mediated vasculitis relationship: part_of Orphanet:264709 ! Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "Anaphylactoid purpura" xsd:string property_value: alternative:term "Henoch-Schönlein purpura" xsd:string property_value: alternative:term "IgA vasculitis" xsd:string property_value: alternative:term "Purpura rheumatica" xsd:string property_value: alternative:term "Rheumatoid purpura" xsd:string [Term] id: Orphanet:763 name: Pycnodysostosis xref: ICD10:Q78.8 xref: MESH:D058631 xref: OMIM:265800 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:2781 ! Osteopetrosis relationship: part_of Orphanet:68366 ! Lysosomal disease property_value: alternative:term "Pyknodysostosis" xsd:string [Term] id: Orphanet:764 name: Pyomyositis xref: ICD10:M60.0 xref: MEDDRA:10037652 xref: MESH:D052880 xref: SNOMED CT:65110003 xref: UMLS:C1704275 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease relationship: part_of Orphanet:182222 ! Rare systemic disease property_value: alternative:term "Myositis purulenta tropica" xsd:string property_value: alternative:term "Myositis tropicans" xsd:string property_value: alternative:term "PM" xsd:string property_value: alternative:term "Suppurative myositis" xsd:string property_value: alternative:term "Tropical pyomyositis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation." xsd:string [Term] id: Orphanet:765 name: Pyruvate dehydrogenase deficiency xref: ICD10:E74.4 xref: MESH:C536257 xref: MESH:D015325 xref: OMIM:245348 xref: OMIM:245349 xref: OMIM:246900 xref: OMIM:312170 xref: OMIM:608782 xref: OMIM:614111 xref: SNOMED CT:46683007 xref: UMLS:C0034345 xref: UMLS:C2936911 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182076 ! Syndromic neurometabolic disease with X-linked intellectual deficit relationship: part_of Orphanet:225700 ! Mitochondrial disease with epilepsy relationship: part_of Orphanet:225703 ! Mitochondrial disease with peripheral neuropathy relationship: part_of Orphanet:254746 ! Pyruvate metabolism disorder relationship: part_of Orphanet:68380 ! Mitochondrial disease property_value: alternative:term "PDH" xsd:string property_value: alternative:term "PDHC" xsd:string property_value: alternative:term "Pyruvate dehydrogenase complex deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms)." xsd:string [Term] id: Orphanet:766 name: Hemolytic anemia due to red cell pyruvate kinase deficiency xref: ICD10:D55.2 xref: OMIM:266200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:254746 ! Pyruvate metabolism disorder relationship: part_of Orphanet:98372 ! Hemolytic anemia due to a disorder of glycolytic enzymes property_value: alternative:term "Pyruvate kinase deficiency of erythrocytes" xsd:string [Term] id: Orphanet:767 name: Polyarteritis nodosa xref: ICD10:M30.0 xref: MEDDRA:10036024 xref: MESH:D010488 xref: SNOMED CT:155441006 xref: UMLS:C0031036 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:156143 ! Predominantly medium-vessel vasculitis relationship: part_of Orphanet:209007 ! Systemic inflammatory disease associated with an acquired peripheral neuropathy relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "Küssmaul-Maier disease" xsd:string property_value: alternative:term "Periarteritis nodosa" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney." xsd:string [Term] id: Orphanet:768 name: Familial long QT syndrome xref: ICD10:I45.8 xref: OMIM:192500 xref: OMIM:220400 xref: OMIM:600919 xref: OMIM:601005 xref: OMIM:603830 xref: OMIM:611818 xref: OMIM:611819 xref: OMIM:611820 xref: OMIM:612347 xref: OMIM:612955 xref: OMIM:613485 xref: OMIM:613688 xref: OMIM:613693 xref: OMIM:613695 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease property_value: alternative:term "Congenital long QT syndrome" xsd:string [Term] id: Orphanet:769 name: Rabson-Mendenhall syndrome xref: ICD10:E13 xref: MESH:D056731 xref: OMIM:262190 xref: SNOMED CT:33559001 xref: UMLS:C0271695 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:181368 ! Insulin-resistance syndrome relationship: part_of Orphanet:79365 ! Hypertrichosis [Term] id: Orphanet:77 name: Aniridia xref: ICD10:Q13.1 xref: MEDDRA:10002532 xref: MESH:C538293 xref: MESH:D015783 xref: SNOMED CT:69278003 xref: UMLS:C0003076 xref: UMLS:C2931795 is_a: Orphanet:98554 ! Major induction processes eye anomaly is_a: Orphanet:98634 ! Iridogoniodysgenesis is_a: Orphanet:98641 ! Syndromic cataract relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "Deletion 11p" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia; see these terms)." xsd:string [Term] id: Orphanet:770 name: Rabies xref: ICD10:A82 xref: MEDDRA:10037742 xref: MESH:D011818 xref: SNOMED CT:14168008 xref: UMLS:C0034494 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:163585 ! Rare viral disease relationship: part_of Orphanet:98010 ! Infectious disease of the nervous system property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated." xsd:string [Term] id: Orphanet:772 name: Infantile Refsum disease xref: ICD10:G60.1 xref: MESH:D052919 xref: OMIM:202370 xref: OMIM:266510 xref: OMIM:601539 xref: OMIM:614863 xref: OMIM:614867 xref: OMIM:614871 xref: OMIM:614873 xref: OMIM:614877 xref: OMIM:614885 xref: OMIM:614920 xref: SNOMED CT:238062008 xref: UMLS:C0282527 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139009 ! Developmental anomaly of metabolic origin relationship: part_of Orphanet:225686 ! Peroxisomal disease with epilepsy relationship: part_of Orphanet:79189 ! Peroxisome biogenesis disorder-Zellweger syndrome spectrum relationship: part_of Orphanet:98096 ! Autosomal recessive metabolic cerebellar ataxia relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy relationship: part_of Orphanet:98713 ! Metabolic disease with pigmentary retinitis property_value: alternative:term "IRD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term)." xsd:string [Term] id: Orphanet:77240 name: Primary lymphedema xref: ICD10:I89.0 is_a: Orphanet:79383 ! Lymphedema property_value: alternative:term "Troncular lymphatic malformation" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Primary lymphedema (PL) is a rare, non-syndromic, clinically and genetically variable lymphatic system disorder generally characterized by chronic edema of congenital or late onset." xsd:string [Term] id: Orphanet:77241 name: Lymphedema praecox is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_289825 with label: Late-onset primary lymphedema" xsd:string [Term] id: Orphanet:77242 name: Lymphedema tarda is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_289825 with label: Late-onset primary lymphedema" xsd:string [Term] id: Orphanet:77243 name: Lipedema xref: ICD10:E65 xref: MEDDRA:10063955 xref: OMIM:614103 xref: SNOMED CT:234102003 xref: UMLS:C0398370 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:183484 ! Genetic subcutaneous tissue disease relationship: part_of Orphanet:79382 ! Subcutaneous tissue disease relationship: part_of Orphanet:79383 ! Lymphedema [Term] id: Orphanet:77258 name: Trichorhinophalangeal syndrome type 1 and 3 xref: ICD10:Q87.1 xref: OMIM:190350 xref: OMIM:190351 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:324764 ! Trichorhinophalangeal syndrome [Term] id: Orphanet:77259 name: Gaucher disease type 1 xref: ICD10:E75.2 xref: OMIM:230800 xref: SNOMED CT:62201009 xref: UMLS:C1961835 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:264968 ! Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease relationship: part_of Orphanet:355 ! Gaucher disease relationship: part_of Orphanet:98544 ! Cerebral lipidosis with dementia property_value: alternative:term "Non-cerebral juvenile Gaucher disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia." xsd:string [Term] id: Orphanet:77260 name: Gaucher disease type 2 xref: ICD10:E75.2 xref: OMIM:230900 xref: SNOMED CT:12246008 xref: UMLS:C0268250 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:264719 ! Secondary interstitial lung disease specific to childhood associated with a metabolic disease relationship: part_of Orphanet:355 ! Gaucher disease relationship: part_of Orphanet:371442 ! Sphingolipidosis with epilepsy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:98544 ! Cerebral lipidosis with dementia property_value: alternative:term "Acute neuronopathic Gaucher disease" xsd:string property_value: alternative:term "Infantile cerebral Gaucher disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2." xsd:string [Term] id: Orphanet:77261 name: Gaucher disease type 3 xref: ICD10:E75.2 xref: OMIM:231000 xref: SNOMED CT:5963005 xref: UMLS:C0268251 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:264719 ! Secondary interstitial lung disease specific to childhood associated with a metabolic disease relationship: part_of Orphanet:355 ! Gaucher disease relationship: part_of Orphanet:371442 ! Sphingolipidosis with epilepsy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:98544 ! Cerebral lipidosis with dementia property_value: alternative:term "Cerebral juvenile and adult form of Gaucher disease" xsd:string property_value: alternative:term "Chronic neuronopathic Gaucher disease" xsd:string property_value: alternative:term "Gaucher disease, subacute neuronopathic type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term)." xsd:string [Term] id: Orphanet:77292 name: Niemann-Pick disease type A xref: ICD10:E75.2 xref: MESH:D052536 xref: OMIM:257200 xref: SNOMED CT:52165006 xref: UMLS:C0268242 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:371442 ! Sphingolipidosis with epilepsy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79225 ! Sphingolipidosis relationship: part_of Orphanet:98714 ! Metabolic disease with macular cherry-red spot property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders." xsd:string [Term] id: Orphanet:77293 name: Niemann-Pick disease type B xref: ICD10:E75.2 xref: MESH:D052537 xref: OMIM:607616 xref: SNOMED CT:39390005 xref: UMLS:C0268243 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:264719 ! Secondary interstitial lung disease specific to childhood associated with a metabolic disease relationship: part_of Orphanet:79225 ! Sphingolipidosis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea" xsd:string [Term] id: Orphanet:77295 name: Odontoleukodystrophy xref: ICD10:E75.2 xref: ICD10:K00.0 xref: OMIM:607694 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:289494 ! Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism property_value: alternative:term "Dentoleukoencephalopathy" xsd:string property_value: alternative:term "Leukodystrophy with oligodontia" xsd:string [Term] id: Orphanet:77296 name: Morgagni-Stewart-Morel syndrome xref: ICD10:M85.2 xref: OMIM:144800 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183542 ! Genetic cranial malformation relationship: part_of Orphanet:98038 ! Cranial malformation property_value: alternative:term "Hyperostosis frontalis interna" xsd:string [Term] id: Orphanet:77297 name: Majeed syndrome xref: MESH:C537839 xref: OMIM:609628 xref: UMLS:C1864997 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:290839 ! Autoinflammatory syndrome with immune deficiency relationship: part_of Orphanet:290842 ! Autoinflammatory syndrome with skin involvement relationship: part_of Orphanet:293830 ! Constitutional dyserythropoietic anemia relationship: part_of Orphanet:324927 ! Pyogenic autoinflammatory syndrome property_value: alternative:term "Chronic recurrent multifocal osteomyelitis - congenital dyserythropoietic anemia - neutrophilic dermatosis" xsd:string [Term] id: Orphanet:77298 name: Anophthalmia/microphthalmia - esophageal atresia xref: ICD10:Q87.8 xref: OMIM:206900 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:108961 ! Syndromic esophageal malformation relationship: part_of Orphanet:202948 ! Syndromic microphthalmia relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:371445 ! Genetic syndromic esophageal malformation property_value: alternative:term "MCOPS3" xsd:string property_value: alternative:term "Syndromic microphthalmia type 3" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula." xsd:string [Term] id: Orphanet:77299 name: Microphthalmia - brain atrophy xref: ICD10:Q11.2 xref: OMIM:611222 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:202948 ! Syndromic microphthalmia property_value: alternative:term "MCOPS10" xsd:string property_value: alternative:term "MOBA syndrome" xsd:string property_value: alternative:term "Syndromic microphthalmia type 10" xsd:string [Term] id: Orphanet:773 name: Refsum disease xref: ICD10:G60.1 xref: MEDDRA:10038275 xref: MESH:D012035 xref: OMIM:266500 xref: OMIM:614879 xref: SNOMED CT:25362006 xref: UMLS:C0034960 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:281238 ! Autosomal ichthyosis syndrome with prominent neurologics signs relationship: part_of Orphanet:309810 ! Disorder of peroxisomal alpha-, beta- and omega-oxidation relationship: part_of Orphanet:68356 ! Leukodystrophy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:98096 ! Autosomal recessive metabolic cerebellar ataxia relationship: part_of Orphanet:98644 ! Cataract associated with a metabolic disease relationship: part_of Orphanet:98699 ! Syndromic ichthyosis associated with ocular features relationship: part_of Orphanet:98713 ! Metabolic disease with pigmentary retinitis property_value: alternative:term "Hereditary motor and sensory neuropathy type 4" xsd:string property_value: alternative:term "Heredopathia atactica polyneuritiformis" xsd:string property_value: alternative:term "HMSN 4" xsd:string property_value: alternative:term "Phytanic acid oxidase deficiency" xsd:string [Term] id: Orphanet:77300 name: Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities xref: ICD10:Q87.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit [Term] id: Orphanet:77301 name: Monosomy 9q22.3 xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262074 ! Partial monosomy of the long arm of chromosome 9 property_value: alternative:term "Microdeletion 9q22.3" xsd:string [Term] id: Orphanet:77302 name: Oculo-oto-facial dysplasia xref: ICD10:Q87.0 xref: OMIM:610332 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit [Term] id: Orphanet:77304 name: Not NOTCH3-related small vessel disease of the brain xref: ICD10:F01.1 xref: ICD10:I67.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183503 ! Genetic central nervous system and retinal vascular disease relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease [Term] id: Orphanet:774 name: Hereditary hemorrhagic telangiectasia xref: ICD10:I78.0 xref: OMIM:187300 xref: OMIM:600376 xref: OMIM:601101 xref: OMIM:610655 xref: OMIM:615506 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:102006 ! Neurovascular malformation relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:182222 ! Rare systemic disease relationship: part_of Orphanet:183478 ! Genetic skin vascular disease relationship: part_of Orphanet:211240 ! Genetic vascular anomaly relationship: part_of Orphanet:211247 ! Capillary malformation relationship: part_of Orphanet:371436 ! Genetic neurovascular malformation relationship: part_of Orphanet:79379 ! Skin vascular disease relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis relationship: part_of Orphanet:98613 ! Conjunctival telangiectasia property_value: alternative:term "HHT" xsd:string property_value: alternative:term "Rendu-Osler disease" xsd:string property_value: alternative:term "Rendu-Osler-Weber disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting." xsd:string [Term] id: Orphanet:775 name: Intellectual deficit, X-linked, Martinez type is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:776 name: X-linked intellectual deficit with marfanoid habitus xref: ICD10:Q87.8 xref: OMIM:300676 xref: OMIM:309520 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Lujan syndrome" xsd:string property_value: alternative:term "Lujan-Fryns syndrome" xsd:string property_value: alternative:term "X-linked mental retardation with marfanoid habitus" xsd:string property_value: alternative:term "XLMR with marfanoid habitus" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems." xsd:string [Term] id: Orphanet:777 name: X-linked non-syndromic intellectual deficit xref: OMIM:300046 xref: OMIM:300047 xref: OMIM:300062 xref: OMIM:300114 xref: OMIM:300115 xref: OMIM:300143 xref: OMIM:300210 xref: OMIM:300271 xref: OMIM:300324 xref: OMIM:300355 xref: OMIM:300372 xref: OMIM:300387 xref: OMIM:300419 xref: OMIM:300428 xref: OMIM:300433 xref: OMIM:300436 xref: OMIM:300454 xref: OMIM:300498 xref: OMIM:300504 xref: OMIM:300505 xref: OMIM:300518 xref: OMIM:300551 xref: OMIM:300558 xref: OMIM:300705 xref: OMIM:300716 xref: OMIM:300802 xref: OMIM:300803 xref: OMIM:300844 xref: OMIM:300848 xref: OMIM:300849 xref: OMIM:300850 xref: OMIM:300851 xref: OMIM:300852 xref: OMIM:309530 xref: OMIM:309549 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101685 ! Rare intellectual deficit without developmental anomaly property_value: alternative:term "X-linked non-specific intellectual deficit" xsd:string [Term] id: Orphanet:778 name: Rett syndrome xref: ICD10:F84.2 xref: MEDDRA:10039000 xref: MESH:D015518 xref: OMIM:312750 xref: SNOMED CT:68618008 xref: UMLS:C0035372 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:166472 ! Monogenic disease with epilepsy relationship: part_of Orphanet:168778 ! Rare pervasive developmental disorder relationship: part_of Orphanet:306765 ! Motor stereotypies relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:77828 name: Genetic obesity xref: ICD10:E66.8 is_a: Orphanet:156638 ! Rare genetic endocrine disease is_a: Orphanet:183573 ! Genetic overgrowth/obesity syndrome is_a: Orphanet:97978 ! Rare endocrine disease [Term] id: Orphanet:77830 name: Rare genetic odontologic disease is_a: Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:779 name: Reynolds syndrome xref: ICD10:K74.5 xref: ICD10:L94.0 xref: OMIM:613471 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101941 ! Rare biliary tract disease relationship: part_of Orphanet:156149 ! Immune complex mediated vasculitis relationship: part_of Orphanet:182228 ! Systemic autoimmune disease relationship: part_of Orphanet:290836 ! Systemic disease with skin involvement relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "Primary biliary cirrhosis and systemic scleroderma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Reynolds syndrome (RS) is an autoimmune disorder characterized by association of primary biliary cirrhosis (PBC) with limited cutaneous Systemic Sclerosis (lcSSc) (see these terms)." xsd:string [Term] id: Orphanet:78 name: Ankylostomiasis xref: ICD10:B76 xref: MEDDRA:10002255 xref: MEDDRA:10020376 xref: MESH:D000724 xref: MESH:D006725 xref: SNOMED CT:105694003 xref: SNOMED CT:63479002 xref: UMLS:C0002831 xref: UMLS:C0019911 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163588 ! Rare parasitic disease property_value: alternative:term "Ancylostomiasis" xsd:string property_value: alternative:term "Hookworms infection" xsd:string [Term] id: Orphanet:780 name: Rhabdomyosarcoma xref: ICD10:C49 xref: MEDDRA:10039022 xref: MESH:D012208 xref: OMIM:268210 xref: OMIM:268220 xref: SNOMED CT:302847003 xref: SNOMED CT:30924005 xref: UMLS:C0035412 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206982 ! Muscular tumor relationship: part_of Orphanet:3394 ! Soft tissue sarcoma [Term] id: Orphanet:781 name: Q fever xref: ICD10:A78 xref: MEDDRA:10037688 xref: MEDDRA:10037731 xref: MESH:D011778 xref: SNOMED CT:186788009 xref: SNOMED CT:68981009 xref: UMLS:C0034362 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease property_value: alternative:term "Coxiellosis" xsd:string property_value: alternative:term "Query fever" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition ", is a bacterial zoonosis with a wide clinical spectrum that can be life-threatening and, in some cases, can become chronic." xsd:string [Term] id: Orphanet:782 name: Axenfeld-Rieger syndrome xref: ICD10:Q13.8 xref: MESH:C535679 xref: OMIM:180500 xref: OMIM:601499 xref: OMIM:602482 xref: SNOMED CT:204154009 xref: SNOMED CT:267585008 xref: SNOMED CT:417604002 xref: SNOMED CT:47507006 xref: UMLS:C0265341 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:95495 ! Disease associated with nonacquired combined pituitary hormone deficiency relationship: part_of Orphanet:98558 ! Rare eye disease due to a differentiation anomaly relationship: part_of Orphanet:98634 ! Iridogoniodysgenesis relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature property_value: alternative:term "Axenfeld syndrome" xsd:string property_value: alternative:term "Rieger syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies." xsd:string [Term] id: Orphanet:783 name: Rubinstein-Taybi syndrome xref: ICD10:Q87.2 xref: MEDDRA:10039281 xref: MESH:D012415 xref: OMIM:180849 xref: OMIM:610543 xref: OMIM:613684 xref: SNOMED CT:45582004 xref: UMLS:C0035934 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:139021 ! Malformation syndrome with short stature relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:183570 ! Genetic malformation syndrome with short stature relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:252190 ! Inherited nervous system cancer-predisposing syndrome relationship: part_of Orphanet:261956 ! Partial deletion of the short arm of chromosome 16 relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature relationship: part_of Orphanet:98655 ! Lens shape anomaly relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy [Term] id: Orphanet:786 name: Glucocorticoid resistance xref: ICD10:E25.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:181412 ! Adrenogenital syndrome relationship: part_of Orphanet:90776 ! 46,XX disorder of sex development induced by fetal androgens excess property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Glucocorticoid resistance is a rare genetic endocrine condition characterized by generalized, partial, target tissue resistance to glucocorticoids. The clinical spectrum of the condition is broad, ranging from asymptomatic to severe cases of hyperandrogenism, fatigue and/or mineralocorticoid excess." xsd:string [Term] id: Orphanet:79 name: Congenital alpha2 antiplasmin deficiency xref: ICD10:D68.8 xref: OMIM:262850 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:68334 ! Rare hemorrhagic disorder due to a constitutional coagulation factors defect [Term] id: Orphanet:790 name: Retinoblastoma xref: ICD10:C69.2 xref: MEDDRA:10038916 xref: MESH:D012175 xref: OMIM:180200 xref: SNOMED CT:19906005 xref: SNOMED CT:370967009 xref: UMLS:C0035335 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:101950 ! Rare eye tumor relationship: part_of Orphanet:183619 ! Genetic eye tumor relationship: part_of Orphanet:98657 ! Genetic vitreous-retinal disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Retinoblastoma (RB) is a malignant intraocular neoplasm that develops most often in children. Most RB are unilateral and non-hereditary (unilateral retinoblastoma, URB, see this term), whereas bilateral and multifocal unilateral RB are predominantly hereditary (familial retinoblastoma, FRB, see this term)." xsd:string [Term] id: Orphanet:79022 name: Simpson-Golabi-Behmel syndrome type 2 xref: ICD10:Q87.3 xref: OMIM:300209 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:156207 ! Macroglossia relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations relationship: part_of Orphanet:93460 ! Overgrowth syndrome relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Lethal variant of Simpson-Golabi-Behmel syndrome" xsd:string property_value: alternative:term "SGBS2" xsd:string [Term] id: Orphanet:79062 name: Disorder of amino acid and other organic acid metabolism is_a: Orphanet:68367 ! Inborn errors of metabolism [Term] id: Orphanet:79076 name: Juvenile polyposis of infancy xref: ICD10:D12.6 xref: OMIM:612242 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2929 ! Juvenile polyposis syndrome property_value: alternative:term "Infantile juvenile polyposis syndrome" xsd:string [Term] id: Orphanet:79078 name: Mikulicz disease xref: ICD10:K11.8 xref: MEDDRA:10051457 xref: MEDDRA:10052317 xref: MESH:D008882 xref: SNOMED CT:7826003 xref: UMLS:C0026103 is_a: Orphanet:284264 ! Immunoglobulin G4-related sclerosing disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182228 ! Systemic autoimmune disease property_value: alternative:term "Chronic dacryoadenitis and sialoadenitis" xsd:string property_value: alternative:term "IgG4-related dacryoadenitis and sialoadenitis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mikulicz's disease (MD), is an IgG4-related disease (see this term) characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis (see these terms)." xsd:string [Term] id: Orphanet:79083 name: Familial partial lipodystrophy associated with PPARG mutations xref: ICD10:E88.1 xref: OMIM:604367 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98306 ! Familial partial lipodystrophy property_value: alternative:term "Familial partial lipodystrophy type 3" xsd:string property_value: alternative:term "FPLD3" xsd:string [Term] id: Orphanet:79084 name: Familial partial lipodystrophy, Köbberling type xref: ICD10:E88.1 xref: OMIM:608600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98306 ! Familial partial lipodystrophy property_value: alternative:term "Familial partial lipodystrophy type 1" xsd:string property_value: alternative:term "FPLD1" xsd:string [Term] id: Orphanet:79085 name: Familial partial lipodystrophy due to AKT2 mutations xref: ICD10:E88.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98306 ! Familial partial lipodystrophy [Term] id: Orphanet:79086 name: Acquired generalized lipodystrophy xref: ICD10:E88.1 xref: SNOMED CT:86907008 xref: UMLS:C0271693 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:181368 ! Insulin-resistance syndrome relationship: part_of Orphanet:98307 ! Acquired lipodystrophy property_value: alternative:term "Acquired lipoatrophic diabetes" xsd:string property_value: alternative:term "Lawrence syndrome" xsd:string property_value: alternative:term "Lawrence-Seip syndrome" xsd:string [Term] id: Orphanet:79087 name: Partial acquired lipodystrophy xref: ICD10:E88.1 xref: OMIM:608709 xref: SNOMED CT:75659004 xref: UMLS:C0220989 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139033 ! Progeroid syndrome relationship: part_of Orphanet:98307 ! Acquired lipodystrophy property_value: alternative:term "Barraquer-Simons syndrome" xsd:string property_value: alternative:term "Progressive cephalothoracic lipodystrophy" xsd:string [Term] id: Orphanet:79088 name: Localized lipodystrophy xref: ICD10:E88.1 is_a: Orphanet:98307 ! Acquired lipodystrophy [Term] id: Orphanet:79091 name: Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia xref: ICD10:G71.8 xref: OMIM:605637 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206662 ! Inclusion myopathy property_value: alternative:term "Hereditary inclusion body myopathy type 3" xsd:string property_value: alternative:term "HIBM3" xsd:string property_value: alternative:term "IBM3" xsd:string property_value: alternative:term "Inclusion body myopathy type 3" xsd:string [Term] id: Orphanet:79093 name: Foix-Alajouanine syndrome xref: ICD10:G37.4 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102006 ! Neurovascular malformation relationship: part_of Orphanet:211266 ! Arteriovenous malformation property_value: alternative:term "Angiodysgenetic necrotizing myelopathy" xsd:string property_value: alternative:term "Spinal arteriovenous malformation" xsd:string property_value: alternative:term "Subacute angiohypertrophic myelomalacia" xsd:string property_value: alternative:term "Subacute ascending necrotizing myelitis" xsd:string property_value: alternative:term "Subacute necrotizing myelitis" xsd:string [Term] id: Orphanet:79094 name: Grange syndrome xref: ICD10:Q87.8 xref: OMIM:602531 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139030 ! Malformation syndrome with connective tissue involvement relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Grange occlusive arterial syndrome" xsd:string property_value: alternative:term "Progressive arterial occlusive disease - hypertension - heart defects - bone fragility - brachysyndactyly" xsd:string [Term] id: Orphanet:79095 name: Congenital bile acid synthesis defect type 4 xref: ICD10:K76.8 xref: MESH:C535444 xref: OMIM:214950 xref: OMIM:614307 xref: UMLS:C1858328 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:163631 ! Bile acid synthesis defect with cholestasis and malabsorption relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:309810 ! Disorder of peroxisomal alpha-, beta- and omega-oxidation property_value: alternative:term "2-methylacyl-CoA racemase deficiency" xsd:string property_value: alternative:term "Alpha-methyl-acyl-CoA racemase deficiency" xsd:string property_value: alternative:term "AMACR deficiency" xsd:string property_value: alternative:term "Liver disease - retinitis pigmentosa - polyneuropathy - epilepsy" xsd:string [Term] id: Orphanet:79096 name: Pyridoxal phosphate-responsive seizures xref: ICD10:G40.8 xref: OMIM:610090 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:225707 ! Metabolic neurotransmission anomaly with epilepsy relationship: part_of Orphanet:309833 ! Disorder of other vitamins and cofactors metabolism and transport relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79192 ! Disorder of pyridoxine metabolism property_value: alternative:term "PNPO deficiency" xsd:string property_value: alternative:term "PNPO-related neonatal epileptic encephalopathy" xsd:string property_value: alternative:term "Pyridoxa-phosphate dependent seizures" xsd:string property_value: alternative:term "Pyridoxamine 5'-oxidase deficiency" xsd:string property_value: alternative:term "Pyridoxamine 5'-phosphate oxidase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate." xsd:string [Term] id: Orphanet:79097 name: Folinic acid-responsive seizures xref: ICD10:G40.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79219 ! Metabolic disease involving other neurotransmitter deficiency property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid." xsd:string [Term] id: Orphanet:79098 name: Sympathetic ophthalmia xref: ICD10:H44.1 xref: MEDDRA:10042742 xref: MESH:D009879 xref: SNOMED CT:75315001 xref: UMLS:C0029077 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:306648 ! Non-infectious anterior uveitis property_value: alternative:term "Sympathetic uveitis" xsd:string [Term] id: Orphanet:79099 name: Interstitial granulomatous dermatitis with arthritis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182231 ! Rare rheumatologic disease relationship: part_of Orphanet:90077 ! Other acquired skin disease property_value: alternative:term "Ackerman dermatitis syndrome" xsd:string property_value: alternative:term "IGDA" xsd:string [Term] id: Orphanet:791 name: Retinitis pigmentosa xref: ICD10:H35.5 xref: MEDDRA:10038914 xref: MESH:D012174 xref: OMIM:180100 xref: OMIM:180104 xref: OMIM:180105 xref: OMIM:180210 xref: OMIM:268000 xref: OMIM:268025 xref: OMIM:268060 xref: OMIM:300029 xref: OMIM:300155 xref: OMIM:300424 xref: OMIM:300605 xref: OMIM:312600 xref: OMIM:312612 xref: OMIM:400004 xref: OMIM:600059 xref: OMIM:600105 xref: OMIM:600132 xref: OMIM:600138 xref: OMIM:600852 xref: OMIM:601414 xref: OMIM:601718 xref: OMIM:602594 xref: OMIM:602772 xref: OMIM:604232 xref: OMIM:604393 xref: OMIM:606068 xref: OMIM:607921 xref: OMIM:608133 xref: OMIM:608380 xref: OMIM:609913 xref: OMIM:609923 xref: OMIM:610282 xref: OMIM:610359 xref: OMIM:610599 xref: OMIM:611131 xref: OMIM:612095 xref: OMIM:612165 xref: OMIM:612572 xref: OMIM:612712 xref: OMIM:612943 xref: OMIM:613194 xref: OMIM:613341 xref: OMIM:613428 xref: OMIM:613464 xref: OMIM:613575 xref: OMIM:613581 xref: OMIM:613582 xref: OMIM:613617 xref: OMIM:613660 xref: OMIM:613731 xref: OMIM:613750 xref: OMIM:613756 xref: OMIM:613758 xref: OMIM:613767 xref: OMIM:613769 xref: OMIM:613794 xref: OMIM:613801 xref: OMIM:613809 xref: OMIM:613810 xref: OMIM:613827 xref: OMIM:613861 xref: OMIM:613862 xref: OMIM:613983 xref: OMIM:614180 xref: OMIM:614181 xref: OMIM:614494 xref: OMIM:614500 xref: OMIM:615233 xref: OMIM:615434 xref: OMIM:615565 xref: SNOMED CT:28835009 xref: UMLS:C0035334 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:71862 ! Retinal dystrophy [Term] id: Orphanet:79100 name: Atrophoderma vermiculata xref: ICD10:L66.4 xref: OMIM:209700 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:498 ! Keratosis pilaris atrophicans property_value: alternative:term "Folliculitis ulerythematosa reticulate" xsd:string [Term] id: Orphanet:79101 name: Hyperprolinemia type 2 xref: ICD10:E72.5 xref: MEDDRA:10058512 xref: MEDDRA:10058514 xref: MESH:C538385 xref: OMIM:239510 xref: SNOMED CT:124177001 xref: UMLS:C0268530 xref: UMLS:C2931835 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:225689 ! Amino acid or protein metabolism disease with epilepsy relationship: part_of Orphanet:289866 ! Disorder of proline metabolism relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "Delta1-pyrroline-5-carboxylate dehydrogenase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay." xsd:string [Term] id: Orphanet:79102 name: Thyrotoxic periodic paralysis xref: ICD10:G72.3 xref: MEDDRA:10043788 xref: OMIM:188580 xref: OMIM:613239 xref: OMIM:614834 xref: SNOMED CT:30967002 xref: UMLS:C0268446 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206976 ! Periodic paralysis property_value: alternative:term "Thyrotoxic hypokalemic periodic paralysis" xsd:string [Term] id: Orphanet:79105 name: Myxofibrosarcoma xref: ICD10:C49 xref: MEDDRA:10066948 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206982 ! Muscular tumor relationship: part_of Orphanet:3394 ! Soft tissue sarcoma property_value: alternative:term "Fibromyxosarcoma" xsd:string property_value: alternative:term "Myxoid malignant fibrous histiocytoma" xsd:string [Term] id: Orphanet:79106 name: Eiken syndrome xref: OMIM:600002 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93429 ! Multiple epiphyseal dysplasia and pseudoachondroplasia relationship: part_of Orphanet:93447 ! Primary bone dysplasia with defective bone mineralization [Term] id: Orphanet:79107 name: Developmental malformations - deafness - dystonia xref: ICD10:Q87.8 xref: OMIM:607371 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:370106 ! Rare disorder with dystonia and other neurologic or systemic manifestation relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:79113 name: Mandibulofacial dysostosis-microcephaly syndrome xref: ICD10:Q87.0 xref: OMIM:610536 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:364574 ! Acrofacial dysostosis property_value: alternative:term "Growth delay - intellectual deficit - mandibulofacial dysostosis - microcephaly - cleft palate" xsd:string property_value: alternative:term "Mandibulofacial dysostosis, Guion-Almeida type" xsd:string property_value: alternative:term "MFDM syndrome" xsd:string [Term] id: Orphanet:79118 name: Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys xref: OMIM:610199 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93587 ! Familial cystic renal disease [Term] id: Orphanet:79124 name: Hepatic veno-occlusive disease - immunodeficiency xref: ICD10:K76.5 xref: OMIM:235550 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101938 ! Rare vascular liver disease relationship: part_of Orphanet:156601 ! Rare genetic hepatic disease relationship: part_of Orphanet:331217 ! Other immunodeficiency syndrome due to defects in adaptive immunity property_value: alternative:term "VODI syndrome" xsd:string [Term] id: Orphanet:79126 name: Acute interstitial pneumonia xref: ICD10:J84.1 xref: MEDDRA:10066728 xref: OMIM:178500 xref: SNOMED CT:196125002 xref: SNOMED CT:236302005 xref: UMLS:C0085786 xref: UMLS:C1279945 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98300 ! Idiopathic interstitial pneumonia property_value: alternative:term "Acute interstitial pneumonitis" xsd:string property_value: alternative:term "Hamman-Rich syndrome" xsd:string [Term] id: Orphanet:79127 name: Respiratory bronchiolitis - interstitial lung disease xref: ICD10:J84.8 xref: MEDDRA:10066393 xref: SNOMED CT:129451001 xref: UMLS:C1276236 xref: UMLS:C1735355 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98300 ! Idiopathic interstitial pneumonia property_value: alternative:term "RB-ILD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening." xsd:string [Term] id: Orphanet:79128 name: Lymphoid interstitial pneumonia xref: ICD10:J84.1 xref: MEDDRA:10062997 xref: OMIM:247610 xref: SNOMED CT:44274007 xref: UMLS:C0264511 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98300 ! Idiopathic interstitial pneumonia property_value: alternative:term "Lymphocytic interstitial pneumonia" xsd:string [Term] id: Orphanet:79129 name: Trichodysplasia - amelogenesis imperfecta is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome [Term] id: Orphanet:79132 name: Sparse hair - short stature - skin anomalies is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome [Term] id: Orphanet:79133 name: Focal facial dermal dysplasia xref: MESH:C536385 xref: MESH:C537068 xref: OMIM:136500 xref: OMIM:227260 xref: OMIM:614973 xref: OMIM:614974 xref: SNOMED CT:239051001 xref: SNOMED CT:254238008 xref: SNOMED CT:403771007 xref: UMLS:C1744559 xref: UMLS:C2936827 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Bitemporal aplasia cutis congenital" xsd:string property_value: alternative:term "Brauer syndrome" xsd:string property_value: alternative:term "FFDD type I" xsd:string property_value: alternative:term "Hereditary symmetrical aplastic nevi of temples" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Focal facial dermal dysplasia type 1 (FFD1), also known as Brauer syndrome, is a focal facial dermal dysplasia (FFDD ; see this term), characterized by congenital bitemporal cutis aplasia." xsd:string [Term] id: Orphanet:79134 name: DEND syndrome xref: OMIM:606176 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:166463 ! Epileptic syndrome relationship: part_of Orphanet:224 ! Neonatal diabetes mellitus property_value: alternative:term "Developmental delay - epilepsy - neonatal diabetes" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes." xsd:string [Term] id: Orphanet:79135 name: Episodic ataxia type 3 xref: ICD10:G11.8 xref: OMIM:606554 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:211062 ! Hereditary episodic ataxia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia." xsd:string [Term] id: Orphanet:79136 name: Episodic ataxia type 4 xref: ICD10:G11.8 xref: OMIM:606552 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:211062 ! Hereditary episodic ataxia property_value: alternative:term "PATX" xsd:string property_value: alternative:term "Periodic vestibulocerebellar ataxia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia (see this term) characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia." xsd:string [Term] id: Orphanet:79137 name: Generalized epilepsy - paroxysmal dyskinesia xref: ICD10:G40.3 xref: OMIM:609446 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:309 ! Familial partial epilepsy property_value: alternative:term "GEPD" xsd:string [Term] id: Orphanet:79138 name: Bickerstaff brainstem encephalitis xref: ICD10:G61.0 xref: SNOMED CT:427086003 xref: UMLS:C1960543 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:231416 ! Regional variant of Guillain-Barré syndrome relationship: part_of Orphanet:98253 ! Postinfectious encephalitis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma)." xsd:string [Term] id: Orphanet:79139 name: Japanese encephalitis xref: ICD10:A83.0 xref: MEDDRA:10014596 xref: MESH:D004672 xref: SNOMED CT:52947006 xref: UMLS:C0014057 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:166490 ! Infectious disease with epilepsy relationship: part_of Orphanet:98252 ! Infectious encephalitis [Term] id: Orphanet:79140 name: Cutaneous neuroendocrine carcinoma xref: ICD10:C44 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:100101 ! Endocrine tumor with other location relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma property_value: alternative:term "MCC" xsd:string property_value: alternative:term "Merkel cell carcinoma" xsd:string [Term] id: Orphanet:79141 name: Hereditary painful callosities xref: ICD10:Q82.8 xref: OMIM:114140 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:307846 ! Isolated focal palmoplantar keratoderma property_value: alternative:term "Keratosis palmoplantaris nummularis" xsd:string property_value: alternative:term "Plamoplantar hyperkeratosis nummularis" xsd:string property_value: alternative:term "Plamoplantar keratoderma nummularis" xsd:string property_value: alternative:term "PPK nummularis" xsd:string [Term] id: Orphanet:79142 name: Familial Dupuytren contracture xref: ICD10:M72.0 xref: OMIM:126900 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:199257 ! Superficial fibromatosis relationship: part_of Orphanet:79360 ! Other genetic epidermal disease [Term] id: Orphanet:79143 name: Congenital anonychia xref: ICD10:Q84.3 xref: OMIM:107000 xref: OMIM:206800 xref: OMIM:614149 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:79369 ! Isolated nail anomaly relationship: part_of Orphanet:79370 ! Syndromic nail anomaly property_value: alternative:term "Anonychia" xsd:string [Term] id: Orphanet:79144 name: Congenital onychodysplasia xref: ICD10:Q84.6 xref: OMIM:605779 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:79369 ! Isolated nail anomaly relationship: part_of Orphanet:79370 ! Syndromic nail anomaly property_value: alternative:term "COIF" xsd:string property_value: alternative:term "COIF syndrome" xsd:string property_value: alternative:term "Congenital onychodysplasia of the index fingers" xsd:string property_value: alternative:term "Iso-Kikuchi syndrome" xsd:string [Term] id: Orphanet:79145 name: Dowling-Degos disease xref: ICD10:L81.8 xref: MEDDRA:10068651 xref: OMIM:179850 xref: OMIM:615327 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:309505 ! Disorder of fucoglycosan synthesis relationship: part_of Orphanet:371200 ! Congenital disorder of glycosylation with skin involvement relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin property_value: alternative:term "Reticular pigment anomaly of flexures" xsd:string [Term] id: Orphanet:79146 name: Familial progressive hyperpigmentation xref: ICD10:L81.4 xref: OMIM:145250 xref: OMIM:155800 xref: OMIM:614233 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin property_value: alternative:term "Melanosis diffusa congenita" xsd:string property_value: alternative:term "Melanosis universalis hereditaria" xsd:string property_value: alternative:term "Universal melanosis" xsd:string [Term] id: Orphanet:79147 name: Familial reactive perforating collagenosis xref: ICD10:L87.1 xref: OMIM:216700 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:228215 ! Genetic dermis elastic tissue disorder [Term] id: Orphanet:79148 name: Elastosis perforans serpiginosa xref: ICD10:L87.2 xref: MEDDRA:10014338 xref: MESH:C536202 xref: OMIM:130100 xref: SNOMED CT:49428008 xref: UMLS:C0221271 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:228224 ! Acquired dermis elastic tissue disorder with increased elastic tissue [Term] id: Orphanet:79149 name: Dermochondrocorneal dystrophy xref: OMIM:221800 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183472 ! Genetic dermis disorder relationship: part_of Orphanet:79381 ! Unclassified dermis disorder relationship: part_of Orphanet:98628 ! Syndromic corneal dystrophy property_value: alternative:term "François syndrome" xsd:string [Term] id: Orphanet:79150 name: Linear and whorled nevoid hypermelanosis xref: ICD10:L81.4 xref: OMIM:614323 xref: SNOMED CT:403803002 xref: UMLS:C1304501 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin [Term] id: Orphanet:79151 name: Acrokeratosis verruciformis of Hopf xref: ICD10:Q82.8 xref: MEDDRA:10069445 xref: OMIM:101900 xref: SNOMED CT:400085009 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:183441 ! Genetic acrokeratoderma relationship: part_of Orphanet:79356 ! Acrokeratoderma [Term] id: Orphanet:79152 name: Disseminated superficial actinic porokeratosis xref: ICD10:Q82.8 xref: OMIM:175900 xref: OMIM:607728 xref: OMIM:612293 xref: OMIM:612353 xref: OMIM:614714 xref: SNOMED CT:41495000 xref: UMLS:C0265970 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:183444 ! Genetic porokeratosis relationship: part_of Orphanet:79358 ! Porokeratosis [Term] id: Orphanet:79153 name: Autosomal dominant nail dysplasia xref: ICD10:L60.3 xref: OMIM:161050 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79369 ! Isolated nail anomaly property_value: alternative:term "Onychodystrophy totalis" xsd:string property_value: alternative:term "Twenty-nail dystrophy" xsd:string [Term] id: Orphanet:79154 name: 2-aminoadipic 2-oxoadipic aciduria xref: ICD10:E72.3 xref: OMIM:204750 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:289832 ! Disorder of lysine and hydroxylysine metabolism property_value: alternative:term "Alpha-aminoadipic aciduria" xsd:string [Term] id: Orphanet:79155 name: Encephalopathy due to hydroxykynureninuria xref: ICD10:E70.8 xref: OMIM:236800 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:289829 ! Disorder of tryptophan metabolism relationship: part_of Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "Kynureninase deficiency" xsd:string property_value: alternative:term "Xanthurenic aciduria" xsd:string [Term] id: Orphanet:79156 name: Seizures - intellectual deficit due to hydroxylysinuria xref: ICD10:E72.3 xref: OMIM:236900 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:289832 ! Disorder of lysine and hydroxylysine metabolism [Term] id: Orphanet:79157 name: 2-methylbutyryl-CoA dehydrogenase deficiency xref: ICD10:E71.1 xref: OMIM:610006 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:225689 ! Amino acid or protein metabolism disease with epilepsy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79163 ! Classic organic aciduria property_value: alternative:term "2-methylbutyric aciduria" xsd:string property_value: alternative:term "Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency" xsd:string property_value: alternative:term "SBCAD deficiency" xsd:string property_value: alternative:term "Short/branched-chain acyl-coA dehydrogenase deficiency" xsd:string [Term] id: Orphanet:79158 name: Cerebral organic aciduria is_a: Orphanet:289899 ! Organic aciduria [Term] id: Orphanet:79159 name: Isobutyryl-CoA dehydrogenase deficiency xref: ICD10:E71.1 xref: MESH:C535541 xref: OMIM:611283 xref: SNOMED CT:445274004 xref: UMLS:C1969809 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:217619 ! Syndrome associated with dilated cardiomyopathy relationship: part_of Orphanet:79163 ! Classic organic aciduria property_value: alternative:term "Isobutyric aciduria" xsd:string [Term] id: Orphanet:79161 name: Disorder of carbohydrate metabolism xref: MEDDRA:10061023 xref: SNOMED CT:20957000 xref: UMLS:C0149670 is_a: Orphanet:68367 ! Inborn errors of metabolism [Term] id: Orphanet:79163 name: Classic organic aciduria is_a: Orphanet:289899 ! Organic aciduria [Term] id: Orphanet:79166 name: Disorder of amino acid absorption and transport xref: ICD10:E72.0 xref: SNOMED CT:16784003 xref: UMLS:C0268641 is_a: Orphanet:79062 ! Disorder of amino acid and other organic acid metabolism [Term] id: Orphanet:79167 name: Disorder of urea cycle metabolism and ammonia detoxification xref: ICD10:E72.2 is_a: Orphanet:79062 ! Disorder of amino acid and other organic acid metabolism [Term] id: Orphanet:79168 name: Disorder of bile acid synthesis is_a: Orphanet:79226 ! Sterol metabolism disorder [Term] id: Orphanet:79169 name: Disorder of neurotransmitter metabolism and transport is_a: Orphanet:79214 ! Disorder of biogenic amine metabolism and transport [Term] id: Orphanet:79171 name: Disorder of cobalamin metabolism and transport is_a: Orphanet:309827 ! Disorder of vitamin and non-protein cofactor absorption and transport  [Term] id: Orphanet:79172 name: Disorder of creatine biosynthesis xref: ICD10:E72.8 is_a: Orphanet:225696 ! Energy metabolism disorder with epilepsy is_a: Orphanet:79200 ! Disorder of energy metabolism property_value: alternative:term "Primary creatine deficiency disorder" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cerebral creatine deficiency syndromes (CCDS) are a group of disorders with inborn errors of creatine metabolism, which are characterized by an intellectual disability and seizures. CCDS comprise the two creatine biosynthesis disorders, guanidinoacetate methyltransferase deficiency and L-arginine:glycine amidinotransferase deficiency, and the x-linked creatine transporter deficiency (see these terms)." xsd:string [Term] id: Orphanet:79173 name: Disorder of methionine cycle and sulfur amino acid metabolism xref: ICD10:E72.1 is_a: Orphanet:225689 ! Amino acid or protein metabolism disease with epilepsy is_a: Orphanet:79062 ! Disorder of amino acid and other organic acid metabolism property_value: alternative:term "Cytosolic methyl group transfer or sulfur amino acid metabolism disorder" xsd:string [Term] id: Orphanet:79174 name: Disorder of fatty acid oxidation and ketone body metabolism xref: ICD10:E71.3 is_a: Orphanet:79200 ! Disorder of energy metabolism [Term] id: Orphanet:79175 name: Disorder of gamma-aminobutyric acid metabolism xref: ICD10:E72.8 is_a: Orphanet:79214 ! Disorder of biogenic amine metabolism and transport property_value: alternative:term "Disorder of GABA metabolism" xsd:string [Term] id: Orphanet:79177 name: Gluconeogenesis disorder xref: ICD10:E74.4 is_a: Orphanet:79161 ! Disorder of carbohydrate metabolism [Term] id: Orphanet:79178 name: Glucose transport disorder xref: ICD10:E74.8 is_a: Orphanet:309001 ! Disorder of carbohydrate absorption and transport [Term] id: Orphanet:79179 name: Disorder of glycerol metabolism xref: SNOMED CT:237977000 xref: UMLS:C0342762 is_a: Orphanet:79161 ! Disorder of carbohydrate metabolism [Term] id: Orphanet:79181 name: Disorder of histidine metabolism xref: ICD10:E70.8 xref: SNOMED CT:44176004 xref: UMLS:C0268512 is_a: Orphanet:79062 ! Disorder of amino acid and other organic acid metabolism [Term] id: Orphanet:79183 name: Disorder of ketone body metabolism xref: ICD10:E71.3 is_a: Orphanet:79174 ! Disorder of fatty acid oxidation and ketone body metabolism [Term] id: Orphanet:79185 name: Disorder of ornithine or proline metabolism is_a: Orphanet:79062 ! Disorder of amino acid and other organic acid metabolism [Term] id: Orphanet:79186 name: Disorder of pentose phosphate metabolism xref: ICD10:E74.8 is_a: Orphanet:79161 ! Disorder of carbohydrate metabolism [Term] id: Orphanet:79187 name: Disorder of peptide metabolism is_a: Orphanet:79062 ! Disorder of amino acid and other organic acid metabolism [Term] id: Orphanet:79188 name: Peroxisomal beta-oxidation disorder xref: ICD10:E71.3 is_a: Orphanet:309810 ! Disorder of peroxisomal alpha-, beta- and omega-oxidation [Term] id: Orphanet:79189 name: Peroxisome biogenesis disorder-Zellweger syndrome spectrum xref: MESH:C536664 xref: UMLS:C1832200 is_a: Orphanet:101940 ! Metabolic liver disease is_a: Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy is_a: Orphanet:68356 ! Leukodystrophy is_a: Orphanet:68373 ! Peroxisomal disease is_a: Orphanet:68385 ! Neurometabolic disease property_value: alternative:term "PBD-Zellweger spectrum disorder" xsd:string property_value: alternative:term "PBD-ZSD" xsd:string property_value: alternative:term "PBD-ZSS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms)." xsd:string [Term] id: Orphanet:79190 name: Disorder of phenylalanin or tyrosine metabolism is_a: Orphanet:79062 ! Disorder of amino acid and other organic acid metabolism [Term] id: Orphanet:79191 name: Disorder of purine metabolism xref: MEDDRA:10061476 xref: SNOMED CT:32612005 xref: UMLS:C0268104 is_a: Orphanet:79224 ! Disorder of purine or pyrimidine metabolism [Term] id: Orphanet:79192 name: Disorder of pyridoxine metabolism xref: ICD10:G40.8 is_a: Orphanet:79214 ! Disorder of biogenic amine metabolism and transport [Term] id: Orphanet:79193 name: Disorder of pyrimidine metabolism xref: SNOMED CT:85444005 xref: UMLS:C0268127 is_a: Orphanet:79224 ! Disorder of purine or pyrimidine metabolism property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "ANPM" xsd:string [Term] id: Orphanet:79194 name: Disorder of serine or glycine metabolism is_a: Orphanet:79062 ! Disorder of amino acid and other organic acid metabolism [Term] id: Orphanet:79195 name: Sterol biosynthesis disorder is_a: Orphanet:139009 ! Developmental anomaly of metabolic origin is_a: Orphanet:79226 ! Sterol metabolism disorder [Term] id: Orphanet:79196 name: Disorder of the gamma-glutamyl cycle xref: ICD10:E72.8 xref: SNOMED CT:9128006 xref: UMLS:C0268517 is_a: Orphanet:79062 ! Disorder of amino acid and other organic acid metabolism [Term] id: Orphanet:79197 name: Disorder of branched-chain amino acid metabolism xref: ICD10:E71.0 xref: ICD10:E71.1 xref: SNOMED CT:116020001 xref: UMLS:C0342712 is_a: Orphanet:79062 ! Disorder of amino acid and other organic acid metabolism [Term] id: Orphanet:792 name: X-linked retinoschisis xref: ICD10:Q14.1 xref: OMIM:312700 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy relationship: part_of Orphanet:98670 ! Vitreoretinal degeneration property_value: alternative:term "X-linked juvenile retinoschisis" xsd:string property_value: alternative:term "XLRS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." xsd:string [Term] id: Orphanet:79200 name: Disorder of energy metabolism is_a: Orphanet:68367 ! Inborn errors of metabolism [Term] id: Orphanet:79201 name: Glycogen storage disease xref: ICD10:E74.0 xref: MEDDRA:10061990 xref: MESH:D006008 xref: SNOMED CT:29633007 xref: UMLS:C0017919 is_a: Orphanet:79161 ! Disorder of carbohydrate metabolism property_value: alternative:term "Glycogenosis" xsd:string property_value: alternative:term "GSD" xsd:string [Term] id: Orphanet:79204 name: Lipid storage disease xref: ICD10:E75.5 xref: ICD10:E75.6 xref: SNOMED CT:10741005 is_a: Orphanet:79225 ! Sphingolipidosis [Term] id: Orphanet:79207 name: Disorder of lysosomal amino acid transport is_a: Orphanet:68366 ! Lysosomal disease [Term] id: Orphanet:79211 name: Mixed hyperlipidemia xref: ICD10:E78.2 xref: SNOMED CT:267434003 is_a: Orphanet:181422 ! Rare hyperlipidemia [Term] id: Orphanet:79212 name: Mucolipidosis xref: MESH:D009081 xref: SNOMED CT:70528007 xref: UMLS:C0026697 is_a: Orphanet:139009 ! Developmental anomaly of metabolic origin is_a: Orphanet:309279 ! Glycoproteinosis [Term] id: Orphanet:79213 name: Mucopolysaccharidosis xref: ICD10:E76.0 xref: ICD10:E76.1 xref: ICD10:E76.2 xref: ICD10:E76.3 xref: MEDDRA:10028093 xref: MESH:D009083 xref: SNOMED CT:11380006 xref: UMLS:C0026703 is_a: Orphanet:139009 ! Developmental anomaly of metabolic origin is_a: Orphanet:68366 ! Lysosomal disease is_a: Orphanet:98638 ! Rare disease with glaucoma as a major feature [Term] id: Orphanet:79214 name: Disorder of biogenic amine metabolism and transport is_a: Orphanet:68367 ! Inborn errors of metabolism [Term] id: Orphanet:79215 name: Oligosaccharidosis xref: ICD10:E77.1 is_a: Orphanet:139009 ! Developmental anomaly of metabolic origin is_a: Orphanet:309279 ! Glycoproteinosis [Term] id: Orphanet:79217 name: Other metabolic disease with skin involvement is_a: Orphanet:79387 ! Metabolic disease with skin involvement [Term] id: Orphanet:79219 name: Metabolic disease involving other neurotransmitter deficiency is_a: Orphanet:225707 ! Metabolic neurotransmission anomaly with epilepsy is_a: Orphanet:79214 ! Disorder of biogenic amine metabolism and transport [Term] id: Orphanet:79224 name: Disorder of purine or pyrimidine metabolism xref: ICD10:E79 is_a: Orphanet:68367 ! Inborn errors of metabolism [Term] id: Orphanet:79225 name: Sphingolipidosis xref: ICD10:E75.0 xref: ICD10:E75.1 xref: ICD10:E75.2 xref: ICD10:E75.3 xref: MESH:D013106 xref: SNOMED CT:238028008 xref: UMLS:C0037899 is_a: Orphanet:68366 ! Lysosomal disease [Term] id: Orphanet:79226 name: Sterol metabolism disorder is_a: Orphanet:309005 ! Disorder of lipid metabolism [Term] id: Orphanet:79230 name: Hemochromatosis type 2 xref: ICD10:E83.1 xref: MESH:C537247 xref: OMIM:602390 xref: OMIM:613313 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:220489 ! Rare hereditary hemochromatosis property_value: alternative:term "Juvenile hemochromatosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin." xsd:string [Term] id: Orphanet:79233 name: Kelley-Seegmiller syndrome xref: ICD10:E79.8 xref: OMIM:300323 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206428 ! Hypoxanthine-guanine phosphoribosyltransferase deficiency property_value: alternative:term "HPRT deficiency, grade I" xsd:string property_value: alternative:term "HPRT partial deficiency" xsd:string property_value: alternative:term "HPRT-related gout" xsd:string property_value: alternative:term "HPRT-related hyperuricemia" xsd:string property_value: alternative:term "HPRT1 partial deficiency" xsd:string property_value: alternative:term "Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency" xsd:string property_value: alternative:term "Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I" xsd:string property_value: alternative:term "Hypoxanthine guanine phosphoribosyltransferase partial deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout." xsd:string [Term] id: Orphanet:79234 name: Crigler-Najjar syndrome type 1 xref: ICD10:E80.5 xref: MEDDRA:10057034 xref: MESH:C536212 xref: OMIM:218800 xref: SNOMED CT:8933000 xref: UMLS:C2931131 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:205 ! Crigler-Najjar syndrome property_value: alternative:term "Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1" xsd:string property_value: alternative:term "Bilirubin-UGT deficiency type 1" xsd:string property_value: alternative:term "Hereditary unconjugated hyperbilirubinemia type 1" xsd:string property_value: alternative:term "UGT deficiency type 1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." xsd:string [Term] id: Orphanet:79235 name: Crigler-Najjar syndrome type 2 xref: ICD10:E80.5 xref: MEDDRA:10011387 xref: MESH:C536213 xref: OMIM:606785 xref: SNOMED CT:68067009 xref: UMLS:C0268311 xref: UMLS:C2931132 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:205 ! Crigler-Najjar syndrome property_value: alternative:term "Arias syndrome" xsd:string property_value: alternative:term "Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2" xsd:string property_value: alternative:term "Bilirubin-UGT deficiency type 2" xsd:string property_value: alternative:term "Hereditary unconjugated hyperbilirubinemia type 2" xsd:string property_value: alternative:term "UGT deficiency type 2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1 (see these terms)." xsd:string [Term] id: Orphanet:79237 name: Galactokinase deficiency xref: ICD10:E74.2 xref: MESH:C535999 xref: OMIM:230200 xref: SNOMED CT:124302001 xref: UMLS:C0268155 xref: UMLS:C0751158 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:352 ! Galactosemia property_value: alternative:term "Galactokinase deficiency galactosemia" xsd:string property_value: alternative:term "Galactosemia type 2" xsd:string property_value: alternative:term "GALK deficiency" xsd:string property_value: alternative:term "GALK-D" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Galactokinase deficiency is a rare mild form of galactosemia (see this term) characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice." xsd:string [Term] id: Orphanet:79238 name: Galactose epimerase deficiency xref: ICD10:E74.2 xref: OMIM:230350 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:352 ! Galactosemia property_value: alternative:term "Epimerase deficiency galactosemia" xsd:string property_value: alternative:term "Galactosemia type 3" xsd:string property_value: alternative:term "GALE deficiency" xsd:string property_value: alternative:term "GALE-D" xsd:string property_value: alternative:term "UDP-galactose-4-epimerase deficiency" xsd:string property_value: alternative:term "Uridine diphosphate galactose-4-epimerase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia (see this term) characterized by moderate to severe signs of impaired galactose metabolism." xsd:string [Term] id: Orphanet:79239 name: Classic galactosemia xref: ICD10:E74.2 xref: OMIM:230400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:352 ! Galactosemia property_value: alternative:term "Galactose-1-phosphate uridyltransferase deficiency" xsd:string property_value: alternative:term "Galactosemia type 1" xsd:string property_value: alternative:term "GALT deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease." xsd:string [Term] id: Orphanet:79240 name: Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency xref: ICD10:E74.0 xref: OMIM:261750 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:206959 ! Muscular glycogenosis relationship: part_of Orphanet:370 ! Glycogen storage disease due to phosphorylase kinase deficiency property_value: alternative:term "Glycogen storage disease type 9B" xsd:string property_value: alternative:term "Glycogen storage disease type IXb" xsd:string property_value: alternative:term "Glycogenosis due to liver and muscle phosphorylase kinase deficiency" xsd:string property_value: alternative:term "Glycogenosis type 9B" xsd:string property_value: alternative:term "Glycogenosis type IXb" xsd:string property_value: alternative:term "GSD due to liver and muscle phosphorylase kinase deficiency" xsd:string property_value: alternative:term "GSD type 9B" xsd:string property_value: alternative:term "GSD type IXb" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." xsd:string [Term] id: Orphanet:79241 name: Biotinidase deficiency xref: ICD10:E53.8 xref: OMIM:253260 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:148 ! Multiple carboxylase deficiency relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:309833 ! Disorder of other vitamins and cofactors metabolism and transport property_value: alternative:term "BTD deficiency" xsd:string property_value: alternative:term "Juvenile-onset multiple carboxylase deficiency" xsd:string property_value: alternative:term "Late-onset multiple carboxylase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development." xsd:string [Term] id: Orphanet:79242 name: Holocarboxylase synthetase deficiency xref: ICD10:E53.8 xref: OMIM:253270 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:148 ! Multiple carboxylase deficiency property_value: alternative:term "Early-onset multiple carboxylase deficiency" xsd:string property_value: alternative:term "Neonatal multiple carboxylase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma." xsd:string [Term] id: Orphanet:79243 name: Pyruvate dehydrogenase E1-alpha deficiency xref: ICD10:E74.4 xref: OMIM:312170 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:765 ! Pyruvate dehydrogenase deficiency property_value: alternative:term "PDHAD" xsd:string property_value: alternative:term "Pyruvate decarboxylase deficiency" xsd:string property_value: alternative:term "Pyruvate dehydrogenase complex E1 component subunit alpha deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction." xsd:string [Term] id: Orphanet:79244 name: Pyruvate dehydrogenase E2 deficiency xref: ICD10:E74.4 xref: OMIM:245348 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:765 ! Pyruvate dehydrogenase deficiency property_value: alternative:term "Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency" xsd:string property_value: alternative:term "Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency" xsd:string property_value: alternative:term "Pyruvate dehydrogenase complex component E2 deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood." xsd:string [Term] id: Orphanet:79246 name: Pyruvate dehydrogenase phosphatase deficiency xref: ICD10:E74.4 xref: OMIM:608782 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:765 ! Pyruvate dehydrogenase deficiency property_value: alternative:term "PDH phosphatase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period." xsd:string [Term] id: Orphanet:79253 name: Mild phenylketonuria xref: ICD10:E70.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:716 ! Phenylketonuria property_value: alternative:term "Mild PKU" xsd:string property_value: alternative:term "mPKU" xsd:string property_value: alternative:term "Variant phenylketonuria" xsd:string property_value: alternative:term "Variant PKU" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity." xsd:string [Term] id: Orphanet:79254 name: Classical phenylketonuria xref: ICD10:E70.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:716 ! Phenylketonuria property_value: alternative:term "Classic phenylketonuria" xsd:string property_value: alternative:term "Classic PKU" xsd:string property_value: alternative:term "Classical PKU" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications." xsd:string [Term] id: Orphanet:79255 name: GM1 gangliosidosis type 1 xref: ICD10:E75.1 xref: OMIM:230500 xref: SNOMED CT:238026007 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:354 ! GM1 gangliosidosis property_value: alternative:term "Infantile GM1 gangliosidosis" xsd:string property_value: alternative:term "Norman-Landing disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations." xsd:string [Term] id: Orphanet:79256 name: GM1 gangliosidosis type 2 xref: ICD10:E75.1 xref: OMIM:230600 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:354 ! GM1 gangliosidosis relationship: part_of Orphanet:385 ! Neurodegeneration with brain iron accumulation property_value: alternative:term "Juvenile GM1 gangliosidosis" xsd:string property_value: alternative:term "Late-infantile GM1 gangliosidosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age." xsd:string [Term] id: Orphanet:79257 name: GM1 gangliosidosis type 3 xref: ICD10:E75.1 xref: OMIM:230650 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:354 ! GM1 gangliosidosis property_value: alternative:term "Adult-onset GM1 gangliosidosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." xsd:string [Term] id: Orphanet:79258 name: Glycogen storage disease due to glucose-6-phosphatase deficiency type a xref: ICD10:E74.0 xref: OMIM:232200 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:364 ! Glycogen storage disease due to glucose-6-phosphatase deficiency property_value: alternative:term "G6P deficiency type a" xsd:string property_value: alternative:term "Glycogen storage disease due to G6P deficiency type a" xsd:string property_value: alternative:term "Glycogen storage disease type 1a" xsd:string property_value: alternative:term "Glycogenosis due to glucose-6-phosphatase deficiency type a" xsd:string property_value: alternative:term "Glycogenosis type Ia" xsd:string property_value: alternative:term "GSD due to G6P deficiency type a" xsd:string property_value: alternative:term "GSD type 1a" xsd:string property_value: alternative:term "GSDIa" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." xsd:string [Term] id: Orphanet:79259 name: Glycogen storage disease due to glucose-6-phosphatase deficiency type b xref: ICD10:E74.0 xref: OMIM:232220 xref: OMIM:232240 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:331184 ! Constitutional neutropenia with extra-haematopoietic manifestations relationship: part_of Orphanet:364 ! Glycogen storage disease due to glucose-6-phosphatase deficiency property_value: alternative:term "G6P deficiency type b" xsd:string property_value: alternative:term "G6P translocase deficiency" xsd:string property_value: alternative:term "G6PT deficiency" xsd:string property_value: alternative:term "Glycogen storage disease due to G6P deficiency type b" xsd:string property_value: alternative:term "Glycogen storage disease type 1b" xsd:string property_value: alternative:term "Glycogenosis due to glucose-6-phosphatase deficiency type b" xsd:string property_value: alternative:term "Glycogenosis due to glucose-6-phosphatase transport defect" xsd:string property_value: alternative:term "Glycogenosis type Ib" xsd:string property_value: alternative:term "GSD due to G6P deficiency type b" xsd:string property_value: alternative:term "GSD due to G6PT deficiency" xsd:string property_value: alternative:term "GSD type 1 non a" xsd:string property_value: alternative:term "GSD type 1b" xsd:string property_value: alternative:term "GSDIb" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." xsd:string [Term] id: Orphanet:79260 name: Glycogen storage disease type 1C is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_79259 with label: Glycogen storage disease due to glucose-6-phosphatase deficiency type b" xsd:string [Term] id: Orphanet:79261 name: Glycogen storage disease type 1D is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_79259 with label: Glycogen storage disease due to glucose-6-phosphatase deficiency type b" xsd:string [Term] id: Orphanet:79262 name: Adult neuronal ceroid lipofuscinosis xref: ICD10:E75.4 xref: MESH:C537950 xref: OMIM:162350 xref: OMIM:204300 xref: OMIM:256730 xref: OMIM:601780 xref: OMIM:610127 xref: OMIM:614706 xref: OMIM:615362 xref: SNOMED CT:62009002 xref: UMLS:C0022797 xref: UMLS:C2931675 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:216 ! Neuronal ceroid lipofuscinosis relationship: part_of Orphanet:98261 ! Progressive myoclonic epilepsy relationship: part_of Orphanet:98544 ! Cerebral lipidosis with dementia property_value: alternative:term "Adult NCL" xsd:string property_value: alternative:term "ANCL" xsd:string property_value: alternative:term "Kufs disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration." xsd:string [Term] id: Orphanet:79263 name: Infantile neuronal ceroid lipofuscinosis xref: ICD10:E75.4 xref: MESH:C537948 xref: OMIM:214200 xref: OMIM:256730 xref: SNOMED CT:58258004 xref: UMLS:C0268281 xref: UMLS:C2931673 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:216 ! Neuronal ceroid lipofuscinosis relationship: part_of Orphanet:98261 ! Progressive myoclonic epilepsy relationship: part_of Orphanet:98544 ! Cerebral lipidosis with dementia property_value: alternative:term "Hagberg-Santavuori disease" xsd:string property_value: alternative:term "INCL" xsd:string property_value: alternative:term "Infantile NCL" xsd:string property_value: alternative:term "Santavuori disease" xsd:string property_value: alternative:term "Santavuori-Haltia disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities." xsd:string [Term] id: Orphanet:79264 name: Juvenile neuronal ceroid lipofuscinosis xref: ICD10:E75.4 xref: MEDDRA:10052073 xref: OMIM:204200 xref: OMIM:204500 xref: OMIM:256730 xref: OMIM:600143 xref: OMIM:609055 xref: OMIM:610127 xref: SNOMED CT:61663001 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:216 ! Neuronal ceroid lipofuscinosis relationship: part_of Orphanet:98261 ! Progressive myoclonic epilepsy relationship: part_of Orphanet:98544 ! Cerebral lipidosis with dementia property_value: alternative:term "Batten disease" xsd:string property_value: alternative:term "JNCL" xsd:string property_value: alternative:term "Juvenile NCL" xsd:string property_value: alternative:term "Spielmeyer-Vogt disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities." xsd:string [Term] id: Orphanet:79269 name: Sanfilippo syndrome type A xref: ICD10:E76.2 xref: OMIM:252900 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:581 ! Mucopolysaccharidosis type 3 property_value: alternative:term "Heparan sulfamidase deficiency" xsd:string property_value: alternative:term "Mucopolysaccharidosis type 3A" xsd:string [Term] id: Orphanet:79270 name: Sanfilippo syndrome type B xref: ICD10:E76.2 xref: OMIM:252920 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:581 ! Mucopolysaccharidosis type 3 property_value: alternative:term "Mucopolysaccharidosis type 3B" xsd:string property_value: alternative:term "N-acetyl-alpha-glucosaminidase deficiency" xsd:string [Term] id: Orphanet:79271 name: Sanfilippo syndrome type C xref: ICD10:E76.2 xref: OMIM:252930 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:581 ! Mucopolysaccharidosis type 3 property_value: alternative:term "Heparan-alpha-glucosaminide N-acetyltransferase deficiency" xsd:string property_value: alternative:term "HGSNAT deficiency" xsd:string property_value: alternative:term "Mucopolysaccharidosis type 3C" xsd:string [Term] id: Orphanet:79272 name: Sanfilippo syndrome type D xref: ICD10:E76.2 xref: OMIM:252940 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:581 ! Mucopolysaccharidosis type 3 property_value: alternative:term "Glucosamine N-acetyl-6-sulfatase deficiency" xsd:string property_value: alternative:term "GNS deficiency" xsd:string property_value: alternative:term "Mucopolysaccharidosis type 3D" xsd:string [Term] id: Orphanet:79273 name: Hereditary coproporphyria xref: ICD10:E80.2 xref: MEDDRA:10019866 xref: MESH:D046349 xref: OMIM:121300 xref: SNOMED CT:7425008 xref: UMLS:C0162531 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:95157 ! Acute hepatic porphyria [Term] id: Orphanet:79276 name: Acute intermittent porphyria xref: ICD10:E80.2 xref: MESH:D017118 xref: OMIM:176000 xref: SNOMED CT:234422006 xref: UMLS:C0162565 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:100932 ! Nuclear oculomotor paralysis relationship: part_of Orphanet:95157 ! Acute hepatic porphyria [Term] id: Orphanet:79277 name: Congenital erythropoietic porphyria xref: ICD10:E80.0 xref: OMIM:263700 xref: SNOMED CT:22935002 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:738 ! Porphyria relationship: part_of Orphanet:98369 ! Rare constitutional hemolytic anemia due to an enzyme disorder property_value: alternative:term "CEP" xsd:string property_value: alternative:term "Günther disease" xsd:string [Term] id: Orphanet:79278 name: Erythropoietic protoporphyria xref: ICD10:E80.0 xref: MEDDRA:10015289 xref: MESH:D046351 xref: OMIM:177000 xref: OMIM:300752 xref: SNOMED CT:51022005 xref: UMLS:C0162568 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:738 ! Porphyria property_value: alternative:term "EPP" xsd:string property_value: alternative:term "XLDPP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity." xsd:string [Term] id: Orphanet:79279 name: Alpha-N-acetylgalactosaminidase deficiency type 1 xref: ICD10:E77.1 xref: OMIM:609241 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:3137 ! Alpha-N-acetylgalactosaminidase deficiency property_value: alternative:term "NAGA deficiency type 1" xsd:string property_value: alternative:term "Schindler disease type 1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy." xsd:string [Term] id: Orphanet:79280 name: Alpha-N-acetylgalactosaminidase deficiency type 2 xref: ICD10:E77.1 xref: OMIM:609242 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:3137 ! Alpha-N-acetylgalactosaminidase deficiency property_value: alternative:term "Adult-onset Alpha-N-acetylgalactosaminidase deficiency" xsd:string property_value: alternative:term "Kanzaki disease" xsd:string property_value: alternative:term "NAGA deficiency type 2" xsd:string property_value: alternative:term "Schindler disease type 2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy." xsd:string [Term] id: Orphanet:79281 name: Alpha-N-acetylgalactosaminidase deficiency type 3 xref: ICD10:E77.1 xref: OMIM:609241 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:3137 ! Alpha-N-acetylgalactosaminidase deficiency property_value: alternative:term "NAGA deficiency type 3" xsd:string property_value: alternative:term "Schindler disease type 3" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age." xsd:string [Term] id: Orphanet:79282 name: Methylmalonic acidemia with homocystinuria, type cblC xref: ICD10:E72.1 xref: OMIM:277400 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:26 ! Methylmalonic acidemia with homocystinuria relationship: part_of Orphanet:98713 ! Metabolic disease with pigmentary retinitis property_value: alternative:term "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC" xsd:string property_value: alternative:term "Methylmalonic aciduria with homocystinuria, type cblC" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." xsd:string [Term] id: Orphanet:79283 name: Methylmalonic acidemia with homocystinuria, type cblD xref: ICD10:E72.1 xref: OMIM:277410 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:26 ! Methylmalonic acidemia with homocystinuria property_value: alternative:term "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD" xsd:string property_value: alternative:term "Methylmalonic aciduria with homocystinuria, type cblD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations." xsd:string [Term] id: Orphanet:79284 name: Methylmalonic acidemia with homocystinuria, type cblF xref: ICD10:E72.1 xref: OMIM:277380 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:26 ! Methylmalonic acidemia with homocystinuria property_value: alternative:term "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF" xsd:string property_value: alternative:term "Lysosomal membrane cobalamin transporter deficiency" xsd:string property_value: alternative:term "Methylmalonic aciduria with homocystinuria, type cblF" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures." xsd:string [Term] id: Orphanet:79289 name: Niemann-Pick disease type D is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_646 with label: Niemann-Pick disease type C" xsd:string [Term] id: Orphanet:79292 name: Fish-eye disease xref: ICD10:E78.6 xref: MESH:C538467 xref: OMIM:136120 xref: SNOMED CT:238092004 xref: UMLS:C0342895 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:650 ! LCAT deficiency property_value: alternative:term "FED" xsd:string property_value: alternative:term "Partial LCAT deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency." xsd:string [Term] id: Orphanet:79293 name: Familial LCAT deficiency xref: ICD10:E78.6 xref: OMIM:245900 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182043 ! Rare constitutional hemolytic anemia relationship: part_of Orphanet:650 ! LCAT deficiency property_value: alternative:term "Complete LCAT deficiency" xsd:string property_value: alternative:term "FLD" xsd:string property_value: alternative:term "Norum disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme." xsd:string [Term] id: Orphanet:79298 name: Diazoxide-resistant focal hyperinsulinism xref: ICD10:E16.1 is_a: Orphanet:276585 ! Diazoxide-resistant hyperinsulinism property_value: alternative:term "Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form" xsd:string [Term] id: Orphanet:79299 name: Hyperinsulinism due to glucokinase deficiency xref: ICD10:E16.1 xref: OMIM:602485 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:165985 ! Diazoxide-sensitive diffuse hyperinsulinism relationship: part_of Orphanet:308459 ! Disorder of glycolysis property_value: alternative:term "Hyperinsulinemic hypoglycemia due to glucokinase deficiency" xsd:string [Term] id: Orphanet:793 name: SAPHO syndrome xref: ICD10:M86.3 xref: MEDDRA:10051316 xref: SNOMED CT:60684003 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:290842 ! Autoinflammatory syndrome with skin involvement relationship: part_of Orphanet:324927 ! Pyogenic autoinflammatory syndrome property_value: alternative:term "Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "SAPHO syndrome is an autoinflammatory disease characterized by Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis inducing rheumatic pain." xsd:string [Term] id: Orphanet:79301 name: Congenital bile acid synthesis defect type 1 xref: ICD10:K76.8 xref: MESH:C535442 xref: OMIM:607765 xref: UMLS:C1843116 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163631 ! Bile acid synthesis defect with cholestasis and malabsorption property_value: alternative:term "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency" xsd:string [Term] id: Orphanet:79302 name: Congenital bile acid synthesis defect type 3 xref: ICD10:K76.8 xref: OMIM:613812 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:163631 ! Bile acid synthesis defect with cholestasis and malabsorption property_value: alternative:term "Oxysterol 7-alpha-hydroxylase deficiency" xsd:string [Term] id: Orphanet:79303 name: Congenital bile acid synthesis defect type 2 xref: ICD10:K76.8 xref: MESH:C535443 xref: OMIM:235555 xref: UMLS:C1856127 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163631 ! Bile acid synthesis defect with cholestasis and malabsorption property_value: alternative:term "Cholestasis, with delta(4)-3-oxosteroid 5-beta-reductase deficiency" xsd:string [Term] id: Orphanet:79304 name: Progressive familial intrahepatic cholestasis type 2 xref: ICD10:K83.1 xref: MESH:C535934 xref: OMIM:601847 xref: UMLS:C1866138 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:172 ! Progressive familial intrahepatic cholestasis property_value: alternative:term "BSEP deficiency" xsd:string property_value: alternative:term "PFIC2" xsd:string [Term] id: Orphanet:79305 name: Progressive familial intrahepatic cholestasis type 3 xref: ICD10:K83.1 xref: MESH:C535935 xref: OMIM:602347 xref: UMLS:C1865643 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:172 ! Progressive familial intrahepatic cholestasis property_value: alternative:term "PFIC3" xsd:string [Term] id: Orphanet:79306 name: Progressive familial intrahepatic cholestasis type 1 xref: ICD10:K83.1 xref: MESH:C535933 xref: OMIM:211600 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:172 ! Progressive familial intrahepatic cholestasis property_value: alternative:term "Byler disease" xsd:string property_value: alternative:term "FIC1 deficiency" xsd:string property_value: alternative:term "PFIC1" xsd:string [Term] id: Orphanet:79310 name: Vitamin B12-responsive methylmalonic acidemia type cblA xref: ICD10:E71.1 xref: OMIM:251100 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:28 ! Vitamin B12-responsive methylmalonic acidemia property_value: alternative:term "Vitamin B12-responsive methylmalonic aciduria type cblA" xsd:string [Term] id: Orphanet:79311 name: Vitamin B12-responsive methylmalonic acidemia type cblB xref: ICD10:E71.1 xref: OMIM:251110 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:28 ! Vitamin B12-responsive methylmalonic acidemia property_value: alternative:term "Vitamin B12-responsive methylmalonic aciduria, type cblB" xsd:string [Term] id: Orphanet:79312 name: Vitamin B12-unresponsive methylmalonic acidemia type mut- xref: ICD10:E71.1 xref: OMIM:251000 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:27 ! Vitamin B12-unresponsive methylmalonic acidemia relationship: part_of Orphanet:28 ! Vitamin B12-responsive methylmalonic acidemia property_value: alternative:term "Partial deficiency of methylmalonyl-CoA mutase" xsd:string property_value: alternative:term "Vitamin B12-unresponsive methylmalonic aciduria type mut-" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12." xsd:string [Term] id: Orphanet:79314 name: L-2-hydroxyglutaric aciduria xref: ICD10:E72.8 xref: OMIM:236792 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:19 ! 2-hydroxyglutaric aciduria property_value: alternative:term "L-2-HGA" xsd:string property_value: alternative:term "L-2-hydroxyglutaric acidemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy." xsd:string [Term] id: Orphanet:79315 name: D-2-hydroxyglutaric aciduria xref: ICD10:E72.8 xref: OMIM:600721 xref: OMIM:613657 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:19 ! 2-hydroxyglutaric aciduria property_value: alternative:term "D-2-HGA" xsd:string property_value: alternative:term "D-2-hydroxyglutaric acidemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." xsd:string [Term] id: Orphanet:79316 name: Phosphoenolpyruvate carboxykinase 1 deficiency xref: ICD10:E74.4 xref: OMIM:261680 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: part_of Orphanet:2880 ! Phosphoenolpyruvate carboxykinase deficiency property_value: alternative:term "PEPCK1 deficiency" xsd:string [Term] id: Orphanet:79317 name: Phosphoenolpyruvate carboxykinase 2 deficiency xref: ICD10:E74.4 xref: MESH:C536655 xref: OMIM:261650 xref: UMLS:C2931278 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: part_of Orphanet:2880 ! Phosphoenolpyruvate carboxykinase deficiency property_value: alternative:term "PEPCK2 deficiency" xsd:string [Term] id: Orphanet:79318 name: PMM2-CDG xref: ICD10:E77.8 xref: OMIM:212065 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature relationship: part_of Orphanet:371157 ! Congenital disorder of glycosylation with hepatic involvement relationship: part_of Orphanet:371200 ! Congenital disorder of glycosylation with skin involvement property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type Ia" xsd:string property_value: alternative:term "CDG syndrome type Ia" xsd:string property_value: alternative:term "CDG-Ia" xsd:string property_value: alternative:term "CDG1A" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type 1a" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type Ia" xsd:string property_value: alternative:term "Phosphomannomutase 2 deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital disorder of glycosylation type 1a (CDG-Ia) is the most frequent form of CDG syndrome (see this term) and is characterized by highly variable clinical manifestations that may include feeding problems, vomiting, and diarrhea with failure to thrive in infants, and severe encephalopathy with axial hypotonia, abnormal eye movement, marked psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, stroke-like episodes, and retinitis pigmentosa in late infancy, childhood or adulthood." xsd:string [Term] id: Orphanet:79319 name: MPI-CDG xref: ICD10:E77.8 xref: OMIM:602579 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371157 ! Congenital disorder of glycosylation with hepatic involvement relationship: part_of Orphanet:371188 ! Congenital disorder of glycosylation with intestinal involvement relationship: part_of Orphanet:89832 ! Syndromic lymphedema property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type Ib" xsd:string property_value: alternative:term "CDG syndrome type Ib" xsd:string property_value: alternative:term "CDG-Ib" xsd:string property_value: alternative:term "CDG1B" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type 1b" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type Ib" xsd:string property_value: alternative:term "Phosphomannose isomerase deficiency" xsd:string [Term] id: Orphanet:79320 name: ALG6-CDG xref: ICD10:E77.8 xref: OMIM:603147 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature relationship: part_of Orphanet:371188 ! Congenital disorder of glycosylation with intestinal involvement property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type Ic" xsd:string property_value: alternative:term "CDG syndrome type Ic" xsd:string property_value: alternative:term "CDG-Ic" xsd:string property_value: alternative:term "CDG1C" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type 1c" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type Ic" xsd:string property_value: alternative:term "Glucosyltransferase 1 deficiency" xsd:string [Term] id: Orphanet:79321 name: ALG3-CDG xref: ICD10:E77.8 xref: OMIM:601110 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type Id" xsd:string property_value: alternative:term "CDG syndrome type Id" xsd:string property_value: alternative:term "CDG-Id" xsd:string property_value: alternative:term "CDG1D" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type 1d" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type Id" xsd:string property_value: alternative:term "Mannosyltransferase 6 deficiency" xsd:string [Term] id: Orphanet:79322 name: DPM1-CDG xref: ICD10:E77.8 xref: OMIM:608799 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309526 ! Disorder of multiple glycosylation relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type Ie" xsd:string property_value: alternative:term "CDG syndrome type Ie" xsd:string property_value: alternative:term "CDG-Ie" xsd:string property_value: alternative:term "CDG1E" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type 1e" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type Ie" xsd:string property_value: alternative:term "Dol-P-mannosyltransferase deficiency" xsd:string [Term] id: Orphanet:79323 name: MPDU1-CDG xref: ICD10:E77.8 xref: OMIM:609180 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309526 ! Disorder of multiple glycosylation relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature relationship: part_of Orphanet:371200 ! Congenital disorder of glycosylation with skin involvement property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type If" xsd:string property_value: alternative:term "CDG syndrome type If" xsd:string property_value: alternative:term "CDG-If" xsd:string property_value: alternative:term "CDG1F" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type 1f" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type If" xsd:string [Term] id: Orphanet:79324 name: ALG12-CDG xref: ICD10:E77.8 xref: OMIM:607143 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371047 ! Congenital disorder of glycosylation with neurological involvement property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome Ig" xsd:string property_value: alternative:term "CDG syndrome type Ig" xsd:string property_value: alternative:term "CDG-Ig" xsd:string property_value: alternative:term "CDG1G" xsd:string property_value: alternative:term "Congenital disorder of glycosylation 1g" xsd:string property_value: alternative:term "Congenital disorder of glycosylation Ig" xsd:string property_value: alternative:term "Mannosyltransferase 8 deficiency" xsd:string [Term] id: Orphanet:79325 name: ALG8-CDG xref: ICD10:E77.8 xref: OMIM:608104 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371157 ! Congenital disorder of glycosylation with hepatic involvement relationship: part_of Orphanet:371188 ! Congenital disorder of glycosylation with intestinal involvement relationship: part_of Orphanet:371207 ! Congenital disorder of glycosylation with nephropathy as a major feature property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome Ih" xsd:string property_value: alternative:term "CDG syndrome type Ih" xsd:string property_value: alternative:term "CDG-Ih" xsd:string property_value: alternative:term "CDG1H" xsd:string property_value: alternative:term "Congenital disorder of glycosylation 1h" xsd:string property_value: alternative:term "Congenital disorder of glycosylation Ih" xsd:string property_value: alternative:term "Glucosyltransferase 2 deficiency" xsd:string [Term] id: Orphanet:79326 name: ALG2-CDG xref: ICD10:E77.8 xref: OMIM:607906 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature relationship: part_of Orphanet:371157 ! Congenital disorder of glycosylation with hepatic involvement property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome Ii" xsd:string property_value: alternative:term "CDG syndrome type Ii" xsd:string property_value: alternative:term "CDG-Ii" xsd:string property_value: alternative:term "CDG1I" xsd:string property_value: alternative:term "Congenital disorder of glycosylation 1i" xsd:string property_value: alternative:term "Congenital disorder of glycosylation Ii" xsd:string property_value: alternative:term "Mannosyltransferase 2 deficiency" xsd:string [Term] id: Orphanet:79327 name: ALG1-CDG xref: ICD10:E77.8 xref: OMIM:608540 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type Ik" xsd:string property_value: alternative:term "CDG syndrome type Ik" xsd:string property_value: alternative:term "CDG-Ik" xsd:string property_value: alternative:term "CDG1K" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type 1k" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type Ik" xsd:string property_value: alternative:term "Mannosyltransferase 1 deficiency" xsd:string [Term] id: Orphanet:79328 name: ALG9-CDG xref: ICD10:E77.8 xref: OMIM:608776 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature relationship: part_of Orphanet:371157 ! Congenital disorder of glycosylation with hepatic involvement property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type IL" xsd:string property_value: alternative:term "CDG syndrome type IL" xsd:string property_value: alternative:term "CDG-IL" xsd:string property_value: alternative:term "CDG1L" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type 1L" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type IL" xsd:string property_value: alternative:term "Mannosyltransferase 7-9 deficiency" xsd:string [Term] id: Orphanet:79329 name: MGAT2-CDG xref: ICD10:E77.8 xref: OMIM:212066 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371183 ! Congenital disorder of glycosylation with cardiac malformation as a major feature property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type IIa" xsd:string property_value: alternative:term "CDG syndrome type IIa" xsd:string property_value: alternative:term "CDG-IIa" xsd:string property_value: alternative:term "CDG2A" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type 2a" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type IIa" xsd:string property_value: alternative:term "N-acetylglucosaminyltransferase 2 deficiency" xsd:string [Term] id: Orphanet:79330 name: GCS1-CDG xref: ICD10:E77.8 xref: OMIM:606056 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature relationship: part_of Orphanet:371157 ! Congenital disorder of glycosylation with hepatic involvement property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type IIb" xsd:string property_value: alternative:term "CDG syndrome type IIb" xsd:string property_value: alternative:term "CDG-IIb" xsd:string property_value: alternative:term "CDG2B" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type 2b" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type IIb" xsd:string property_value: alternative:term "Glucosidase 1 deficiency" xsd:string [Term] id: Orphanet:79332 name: B4GALT1-CDG xref: ICD10:E77.8 xref: OMIM:607091 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:269546 ! Syndrome with a Dandy-Walker malformation as major feature relationship: part_of Orphanet:269570 ! Genetic syndrome with a Dandy-Walker malformation as major feature relationship: part_of Orphanet:309526 ! Disorder of multiple glycosylation relationship: part_of Orphanet:371047 ! Congenital disorder of glycosylation with neurological involvement relationship: part_of Orphanet:371157 ! Congenital disorder of glycosylation with hepatic involvement relationship: part_of Orphanet:371235 ! Congenital disorder of glycosylation with developmental anomaly property_value: alternative:term "Beta-1,4-galactosyltransferase deficiency" xsd:string property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type IId" xsd:string property_value: alternative:term "CDG syndrome type IId" xsd:string property_value: alternative:term "CDG-IId" xsd:string property_value: alternative:term "CDG2D" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type 2d" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type IId" xsd:string [Term] id: Orphanet:79333 name: COG7-CDG xref: ICD10:E77.8 xref: OMIM:608779 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309568 ! Defect in conserved oligomeric Golgi complex relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature relationship: part_of Orphanet:371183 ! Congenital disorder of glycosylation with cardiac malformation as a major feature relationship: part_of Orphanet:371200 ! Congenital disorder of glycosylation with skin involvement property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type IIe" xsd:string property_value: alternative:term "CDG syndrome type IIe" xsd:string property_value: alternative:term "CDG-IIe" xsd:string property_value: alternative:term "CDG2E" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type 2e" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type IIe" xsd:string [Term] id: Orphanet:79344 name: Autosomal dominant chondrodysplasia punctata xref: ICD10:Q77.3 xref: OMIM:118650 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:176 ! Non-rhizomelic chondrodysplasia punctata property_value: alternative:term "Chondrodysplasia punctata, Sheffield type" xsd:string [Term] id: Orphanet:79345 name: Brachytelephalangic chondrodysplasia punctata xref: ICD10:Q77.3 xref: MESH:C535941 xref: OMIM:302950 xref: OMIM:602497 xref: UMLS:C1844853 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: part_of Orphanet:176 ! Non-rhizomelic chondrodysplasia punctata relationship: part_of Orphanet:91088 ! Other metabolic disease [Term] id: Orphanet:79346 name: Chondrodysplasia punctata, tibial-metacarpal type xref: ICD10:Q77.3 xref: OMIM:118651 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:176 ! Non-rhizomelic chondrodysplasia punctata [Term] id: Orphanet:79347 name: Chondrodysplasia punctata, Toriello type xref: ICD10:Q77.3 xref: OMIM:215105 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:176 ! Non-rhizomelic chondrodysplasia punctata property_value: alternative:term "Toriello-Higgins-Miller syndrome" xsd:string [Term] id: Orphanet:79350 name: 3-phosphoserine phosphatase deficiency xref: ICD10:E72.8 xref: OMIM:614023 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:35705 ! Neurometabolic disorder due to serine deficiency property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term)." xsd:string [Term] id: Orphanet:79351 name: 3-phosphoglycerate dehydrogenase deficiency xref: ICD10:E72.8 xref: OMIM:601815 xref: SNOMED CT:303098002 xref: UMLS:C0580190 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:35705 ! Neurometabolic disorder due to serine deficiency property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form" xsd:string [Term] id: Orphanet:79353 name: Epidermal disease is_a: Orphanet:89826 ! Rare skin disease [Term] id: Orphanet:79354 name: Ichthyosis xref: MEDDRA:10021198 xref: MESH:D007057 xref: SNOMED CT:13059002 xref: UMLS:C0020757 xref: UMLS:C0020758 is_a: Orphanet:79353 ! Epidermal disease [Term] id: Orphanet:79355 name: Erythrokeratoderma xref: MEDDRA:10015280 xref: SNOMED CT:254215005 xref: UMLS:C0432330 is_a: Orphanet:79353 ! Epidermal disease [Term] id: Orphanet:79356 name: Acrokeratoderma xref: ICD10:Q82.8 is_a: Orphanet:79353 ! Epidermal disease [Term] id: Orphanet:79357 name: Hereditary palmoplantar keratoderma xref: ICD10:Q82.8 is_a: Orphanet:183426 ! Genetic epidermal disease is_a: Orphanet:79353 ! Epidermal disease property_value: alternative:term "Hereditary keratosis palmoplantaris" xsd:string property_value: alternative:term "Hereditary palmoplantar hyperkeratosis" xsd:string property_value: alternative:term "Hereditary PPK" xsd:string [Term] id: Orphanet:79358 name: Porokeratosis xref: ICD10:Q82.8 xref: MEDDRA:10036175 xref: MESH:D017499 xref: SNOMED CT:400080004 xref: UMLS:C0162839 is_a: Orphanet:79353 ! Epidermal disease [Term] id: Orphanet:79359 name: Other epidermis disorder is_a: Orphanet:79353 ! Epidermal disease [Term] id: Orphanet:79360 name: Other genetic epidermal disease is_a: Orphanet:183426 ! Genetic epidermal disease [Term] id: Orphanet:79361 name: Inherited epidermolysis bullosa xref: ICD10:Q81 is_a: Orphanet:183426 ! Genetic epidermal disease is_a: Orphanet:79353 ! Epidermal disease property_value: alternative:term "Epidermolysis bullosa hereditaria" xsd:string property_value: alternative:term "Hereditary epidermolysis bullosa" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues." xsd:string [Term] id: Orphanet:79362 name: Epidermal appendage anomaly is_a: Orphanet:89826 ! Rare skin disease [Term] id: Orphanet:79363 name: Hair anomaly is_a: Orphanet:79362 ! Epidermal appendage anomaly [Term] id: Orphanet:79364 name: Alopecia is_a: Orphanet:183450 ! Genetic hair anomaly is_a: Orphanet:79363 ! Hair anomaly [Term] id: Orphanet:79365 name: Hypertrichosis xref: MEDDRA:10020864 xref: MESH:D006983 xref: SNOMED CT:29966009 xref: UMLS:C0020555 is_a: Orphanet:183450 ! Genetic hair anomaly is_a: Orphanet:79363 ! Hair anomaly [Term] id: Orphanet:79366 name: Isolated hair shaft abnormality is_a: Orphanet:183450 ! Genetic hair anomaly is_a: Orphanet:79363 ! Hair anomaly [Term] id: Orphanet:79367 name: Syndromic hair shaft abnormality is_a: Orphanet:183450 ! Genetic hair anomaly is_a: Orphanet:79363 ! Hair anomaly [Term] id: Orphanet:79368 name: Nail anomaly is_a: Orphanet:79362 ! Epidermal appendage anomaly [Term] id: Orphanet:79369 name: Isolated nail anomaly is_a: Orphanet:183454 ! Genetic nail anomaly is_a: Orphanet:79368 ! Nail anomaly [Term] id: Orphanet:79370 name: Syndromic nail anomaly is_a: Orphanet:183454 ! Genetic nail anomaly is_a: Orphanet:79368 ! Nail anomaly [Term] id: Orphanet:79372 name: Sebaceous gland anomaly is_a: Orphanet:79362 ! Epidermal appendage anomaly [Term] id: Orphanet:79373 name: Ectodermal dysplasia syndrome xref: MEDDRA:10010452 xref: MESH:D004476 xref: SNOMED CT:254154003 xref: SNOMED CT:8654005 xref: UMLS:C0013575 is_a: Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement is_a: Orphanet:183447 ! Genetic epidermal appendage anomaly is_a: Orphanet:79362 ! Epidermal appendage anomaly property_value: alternative:term "Ectodermal dysplasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures." xsd:string [Term] id: Orphanet:79374 name: Pigmentation anomaly of the skin is_a: Orphanet:89826 ! Rare skin disease [Term] id: Orphanet:79375 name: Hyperpigmentation of the skin is_a: Orphanet:79374 ! Pigmentation anomaly of the skin [Term] id: Orphanet:79376 name: Hypopigmentation of the skin xref: MEDDRA:10040868 is_a: Orphanet:79374 ! Pigmentation anomaly of the skin [Term] id: Orphanet:79377 name: Dermis disorder is_a: Orphanet:89826 ! Rare skin disease [Term] id: Orphanet:79378 name: Dermis elastic tissue disorder is_a: Orphanet:79377 ! Dermis disorder [Term] id: Orphanet:79379 name: Skin vascular disease xref: MEDDRA:10062171 xref: MESH:D017445 xref: SNOMED CT:11263005 xref: UMLS:C0162819 is_a: Orphanet:79377 ! Dermis disorder [Term] id: Orphanet:79380 name: Mixed dermis disorder is_a: Orphanet:79377 ! Dermis disorder [Term] id: Orphanet:79381 name: Unclassified dermis disorder is_a: Orphanet:79377 ! Dermis disorder [Term] id: Orphanet:79382 name: Subcutaneous tissue disease xref: SNOMED CT:128041002 xref: UMLS:C1290008 is_a: Orphanet:89826 ! Rare skin disease [Term] id: Orphanet:79383 name: Lymphedema xref: MEDDRA:10025282 xref: MESH:D008209 xref: SNOMED CT:234097001 xref: SNOMED CT:30213001 xref: UMLS:C0024236 is_a: Orphanet:211255 ! Lymphatic system malformation is_a: Orphanet:68346 ! Rare genetic skin disease is_a: Orphanet:89826 ! Rare skin disease [Term] id: Orphanet:79384 name: Rare urticaria is_a: Orphanet:89826 ! Rare skin disease is_a: Orphanet:98050 ! Rare allergic disease [Term] id: Orphanet:79385 name: Unclassified genetic skin disease is_a: Orphanet:68346 ! Rare genetic skin disease is_a: Orphanet:89826 ! Rare skin disease [Term] id: Orphanet:79386 name: Rare skin tumor or hamartoma is_a: Orphanet:89826 ! Rare skin disease is_a: Orphanet:98057 ! Rare tumor [Term] id: Orphanet:79387 name: Metabolic disease with skin involvement is_a: Orphanet:68346 ! Rare genetic skin disease is_a: Orphanet:89826 ! Rare skin disease [Term] id: Orphanet:79388 name: Mucopolysaccharidosis with skin involvement is_a: Orphanet:79387 ! Metabolic disease with skin involvement [Term] id: Orphanet:79389 name: Premature aging xref: MEDDRA:10063493 xref: MESH:D019588 xref: SNOMED CT:399959003 xref: SNOMED CT:88587007 xref: UMLS:C0231341 is_a: Orphanet:68346 ! Rare genetic skin disease is_a: Orphanet:89826 ! Rare skin disease [Term] id: Orphanet:79390 name: Rare photodermatosis is_a: Orphanet:89826 ! Rare skin disease property_value: alternative:term "Rare skin photosensitivity" xsd:string [Term] id: Orphanet:79391 name: Immune deficiency with skin involvement is_a: Orphanet:89826 ! Rare skin disease [Term] id: Orphanet:79394 name: Congenital non-bullous ichthyosiform erythroderma xref: ICD10:Q80.2 xref: OMIM:242100 xref: OMIM:606545 xref: OMIM:612281 xref: OMIM:615022 xref: OMIM:615023 xref: OMIM:615024 xref: SNOMED CT:267372009 xref: UMLS:C0079154 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:281097 ! Autosomal recessive congenital ichthyosis property_value: alternative:term "CIE" xsd:string property_value: alternative:term "Erythrodermic ichthyosis" xsd:string property_value: alternative:term "Non-bullous congenital ichthyosiform erythroderma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body." xsd:string [Term] id: Orphanet:79395 name: Keratoderma hereditarium mutilans with ichthyosis xref: ICD10:Q82.8 xref: OMIM:604117 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:281082 ! Inherited ichthyosis nonsyndromic form relationship: part_of Orphanet:307773 ! Autosomal dominant diffuse mutilating palmoplantar keratoderma property_value: alternative:term "Camisa disease" xsd:string property_value: alternative:term "Keratoderma - ichthyosiform dermatosis - elevated beta-glucuronidase" xsd:string property_value: alternative:term "Loricrin keratoderma" xsd:string property_value: alternative:term "Vohwinkel syndrome - ichthyosis" xsd:string [Term] id: Orphanet:79396 name: Epidermolysis bullosa simplex, Dowling-Meara type xref: ICD10:Q81.0 xref: OMIM:131760 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:158665 ! Basal epidermolysis bullosa simplex property_value: alternative:term "Epidermolysis bullosa simplex, herpetiformis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration." xsd:string [Term] id: Orphanet:79397 name: Epidermolysis bullosa simplex with mottled pigmentation xref: ICD10:Q81.0 xref: MESH:C535959 xref: OMIM:131960 xref: SNOMED CT:254180002 xref: UMLS:C0432316 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:158665 ! Basal epidermolysis bullosa simplex property_value: alternative:term "EBS-MP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation." xsd:string [Term] id: Orphanet:79399 name: Generalized epidermolysis bullosa simplex, non-Dowling-Meara type xref: ICD10:Q81.0 xref: MESH:C535961 xref: OMIM:131900 xref: SNOMED CT:90496008 xref: UMLS:C0079299 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:158665 ! Basal epidermolysis bullosa simplex property_value: alternative:term "Epidermolysis bullosa simplex, Koebner type" xsd:string property_value: alternative:term "Epidermolysis bullosa simplex, Köbner type" xsd:string property_value: alternative:term "Generalized EBS, non-Dowling-Meara type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction." xsd:string [Term] id: Orphanet:794 name: Saethre-Chotzen syndrome xref: ICD10:Q87.0 xref: OMIM:101400 xref: SNOMED CT:83015004 xref: UMLS:C0175699 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:946 ! Acrocephalosyndactyly relationship: part_of Orphanet:98578 ! Ptosis relationship: part_of Orphanet:98684 ! Craniostenosis associated with a strabismus property_value: alternative:term "Acrocephalosyndactyly type 3" xsd:string property_value: alternative:term "ACS3" xsd:string property_value: alternative:term "SCS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations." xsd:string [Term] id: Orphanet:79400 name: Localized epidermolysis bullosa simplex xref: ICD10:Q81.0 xref: OMIM:131800 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:158665 ! Basal epidermolysis bullosa simplex property_value: alternative:term "EBS-loc" xsd:string property_value: alternative:term "Epidermolysis bullosa simplex of palms and soles" xsd:string property_value: alternative:term "Epidermolysis bullosa simplex, Weber-Cockayne type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather." xsd:string [Term] id: Orphanet:79401 name: Epidermolysis bullosa simplex, Ogna type xref: ICD10:Q81.0 xref: MESH:C535962 xref: OMIM:131950 xref: SNOMED CT:398071000 xref: UMLS:C0432317 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:158665 ! Basal epidermolysis bullosa simplex property_value: alternative:term "EBS-O" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering." xsd:string [Term] id: Orphanet:79402 name: Generalized junctional epidermolysis bullosa, non-Herlitz type xref: ICD10:Q81.8 xref: OMIM:226650 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:89840 ! Junctional epidermolysis bullosa, non-Herlitz type property_value: alternative:term "GABEB" xsd:string property_value: alternative:term "Generalized atrophic benign epidermolysis bullosa" xsd:string property_value: alternative:term "JEB-nH gen" xsd:string property_value: alternative:term "Junctional epidermolysis bullosa generalisata mitis" xsd:string property_value: alternative:term "Junctional epidermolysis bullosa, Disentis type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH, see this term) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement." xsd:string [Term] id: Orphanet:79403 name: Junctional epidermolysis bullosa - pyloric atresia xref: ICD10:Q81.8 xref: OMIM:226730 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:305 ! Junctional epidermolysis bullosa property_value: alternative:term "Carmi syndrome" xsd:string property_value: alternative:term "JEB-PA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract." xsd:string [Term] id: Orphanet:79404 name: Junctional epidermolysis bullosa, Herlitz type xref: ICD10:Q81.1 xref: OMIM:226700 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:263676 ! Hereditary epidermolysis bullosa associated with ocular features relationship: part_of Orphanet:305 ! Junctional epidermolysis bullosa property_value: alternative:term "Epidermolysis bullosa letalis" xsd:string property_value: alternative:term "JEB-H" xsd:string property_value: alternative:term "Junctional epidermolysis bullosa generalisata gravis" xsd:string property_value: alternative:term "Junctional epidermolysis bullosa, Herlitz-Pearson type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes." xsd:string [Term] id: Orphanet:79405 name: Junctional epidermolysis bullosa inversa xref: ICD10:Q81.8 xref: OMIM:226650 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:305 ! Junctional epidermolysis bullosa property_value: alternative:term "EBJ-I" xsd:string property_value: alternative:term "Inverse JEB" xsd:string property_value: alternative:term "JEB-I" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina." xsd:string [Term] id: Orphanet:79406 name: Late-onset junctional epidermolysis bullosa xref: ICD10:Q81.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:305 ! Junctional epidermolysis bullosa property_value: alternative:term "EB progressive" xsd:string property_value: alternative:term "JEB-lo" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood." xsd:string [Term] id: Orphanet:79407 name: Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_231568 with label: Generalized dominant dystrophic epidermolysis bullosa" xsd:string [Term] id: Orphanet:79408 name: Severe generalized recessive dystrophic epidermolysis bullosa xref: ICD10:Q81.2 xref: OMIM:226600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:263676 ! Hereditary epidermolysis bullosa associated with ocular features relationship: part_of Orphanet:303 ! Dystrophic epidermolysis bullosa property_value: alternative:term "Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis" xsd:string property_value: alternative:term "Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type" xsd:string property_value: alternative:term "RDEB generalisata gravis" xsd:string property_value: alternative:term "RDEB, Hallopeau-Siemens type" xsd:string property_value: alternative:term "RDEB-sev gen" xsd:string property_value: alternative:term "Severe generalized RDEB" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement." xsd:string [Term] id: Orphanet:79409 name: Recessive dystrophic epidermolysis bullosa inversa xref: ICD10:Q81.2 xref: OMIM:226600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:303 ! Dystrophic epidermolysis bullosa property_value: alternative:term "Dystrophic epidermolysis bullosa inversa" xsd:string property_value: alternative:term "Inverse RDEB" xsd:string property_value: alternative:term "Inverse recessive dystrophic epidermolysis bullosa" xsd:string property_value: alternative:term "RDEB-I" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area." xsd:string [Term] id: Orphanet:79410 name: Pretibial dystrophic epidermolysis bullosa xref: ICD10:Q81.2 xref: OMIM:131850 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:303 ! Dystrophic epidermolysis bullosa property_value: alternative:term "DEB-Pt" xsd:string property_value: alternative:term "Pretibial DEB" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region." xsd:string [Term] id: Orphanet:79411 name: Transient bullous dermolysis of the newborn xref: ICD10:Q81.2 xref: MESH:C536979 xref: OMIM:131705 xref: UMLS:C1851573 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:303 ! Dystrophic epidermolysis bullosa property_value: alternative:term "DEB, bullous dermolysis of the newborn" xsd:string property_value: alternative:term "DEB-BDN" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life." xsd:string [Term] id: Orphanet:79414 name: Woolly hair nevus xref: ICD10:D23.4 xref: SNOMED CT:239124001 xref: UMLS:C0343114 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:170 ! Woolly hair property_value: alternative:term "Wooly hair nevus" xsd:string [Term] id: Orphanet:79430 name: Hermansky-Pudlak syndrome xref: ICD10:E70.3 xref: OMIM:203300 xref: OMIM:608233 xref: OMIM:614072 xref: OMIM:614073 xref: OMIM:614074 xref: OMIM:614075 xref: OMIM:614076 xref: OMIM:614077 xref: OMIM:614171 xref: SNOMED CT:9311003 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:284811 ! Syndromic oculocutaneous albinism relationship: part_of Orphanet:309340 ! Disorder of lysosomal-related organelles relationship: part_of Orphanet:98456 ! Dense granule disease property_value: alternative:term "HPS" xsd:string [Term] id: Orphanet:79431 name: Oculocutaneous albinism type 1A xref: ICD10:E70.3 xref: OMIM:203100 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:352731 ! Oculocutaneous albinism type 1 property_value: alternative:term "OCA1A" xsd:string property_value: alternative:term "Tyrosinase-negative oculocutaneous albinism" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves." xsd:string [Term] id: Orphanet:79432 name: Oculocutaneous albinism type 2 xref: ICD10:E70.3 xref: MESH:C537730 xref: OMIM:203200 xref: SNOMED CT:26336006 xref: UMLS:C0268495 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:55 ! Oculocutaneous albinism property_value: alternative:term "OCA2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm." xsd:string [Term] id: Orphanet:79433 name: Oculocutaneous albinism type 3 xref: ICD10:E70.3 xref: MESH:C537189 xref: MESH:C537731 xref: OMIM:203290 xref: SNOMED CT:63450009 xref: UMLS:C0342683 xref: UMLS:C2931599 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:55 ! Oculocutaneous albinism property_value: alternative:term "OCA3" xsd:string property_value: alternative:term "Red oculocutaneous albinism" xsd:string property_value: alternative:term "Rufous oculocutaneous albinism" xsd:string property_value: alternative:term "Xanthous oculocutaneous albinism" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population." xsd:string [Term] id: Orphanet:79434 name: Oculocutaneous albinism type 1B xref: ICD10:E70.3 xref: MESH:C537729 xref: OMIM:606952 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:352731 ! Oculocutaneous albinism type 1 property_value: alternative:term "OCA1B" xsd:string property_value: alternative:term "Oculocutaneous albinism type Amish" xsd:string property_value: alternative:term "Platinum oculocutaneous albinism" xsd:string property_value: alternative:term "Yellow oculocutaneous albinism" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 (see this term) characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves." xsd:string [Term] id: Orphanet:79435 name: Oculocutaneous albinism type 4 xref: ICD10:E70.3 xref: OMIM:606574 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:55 ! Oculocutaneous albinism property_value: alternative:term "OCA4" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm." xsd:string [Term] id: Orphanet:79443 name: Pseudohypoparathyroidism type 1A xref: ICD10:E20.1 xref: OMIM:103580 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:665 ! Albright hereditary osteodystrophy property_value: alternative:term "AHO - PHP Ia" xsd:string property_value: alternative:term "Albright hereditary osteodystrophy - PHP Ia" xsd:string [Term] id: Orphanet:79444 name: Pseudohypoparathyroidism type 1C xref: ICD10:E20.1 xref: MESH:C548076 xref: OMIM:612462 xref: UMLS:C2932716 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:665 ! Albright hereditary osteodystrophy [Term] id: Orphanet:79445 name: Pseudopseudohypoparathyroidism xref: ICD10:E20.1 xref: MESH:D011556 xref: OMIM:612463 xref: SNOMED CT:237659007 xref: UMLS:C0033835 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:665 ! Albright hereditary osteodystrophy property_value: alternative:term "AHO - PPHP" xsd:string property_value: alternative:term "Albright hereditary osteodystrophy - PPHP" xsd:string [Term] id: Orphanet:79446 name: Multiple pterygium syndrome, Aslan type is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_1234 with label: Bartsocas-Papas syndrome" xsd:string [Term] id: Orphanet:79447 name: X-linked lethal multiple pterygium syndrome xref: ICD10:Q79.8 xref: OMIM:312150 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:294060 ! Multiple pterygium syndrome [Term] id: Orphanet:79450 name: Non hereditary congenital primary lymphedema xref: ICD10:Q82.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2416 ! Congenital primary lymphedema property_value: alternative:term "Milroy-like disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition ")." xsd:string [Term] id: Orphanet:79452 name: Milroy disease xref: ICD10:Q82.0 xref: OMIM:153100 xref: OMIM:247440 xref: OMIM:611944 xref: OMIM:613480 xref: UMLS:C1704423 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2416 ! Congenital primary lymphedema property_value: alternative:term "Hereditary lymphedema type I" xsd:string property_value: alternative:term "Nonne-Milroy lymphedema" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Milroy disease is a frequent form of primary lymphedema (see this term) characterized generally by painless, chronic lower-limb lymphedema found at birth or developing in the early neonatal period." xsd:string [Term] id: Orphanet:79455 name: Cutaneous mastocytoma xref: ICD10:Q82.2 xref: MESH:D054705 xref: UMLS:C0343115 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:66646 ! Cutaneous mastocytosis property_value: alternative:term "Cutaneous local mastocytoma" xsd:string property_value: alternative:term "Multiple mastocytoma" xsd:string property_value: alternative:term "Solitary mastocytoma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM, see this term) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin." xsd:string [Term] id: Orphanet:79456 name: Diffuse cutaneous mastocytosis xref: ICD10:Q82.2 xref: MEDDRA:10012812 xref: UMLS:C0024901 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:66646 ! Cutaneous mastocytosis property_value: alternative:term "DCM" xsd:string property_value: alternative:term "Diffuse cutaneous maculopapulous mastocytosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM; see this term) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM; see this term) and one with infiltrations (Pseudoxanthomatous DCM; see this term)." xsd:string [Term] id: Orphanet:79457 name: Maculopapular cutaneous mastocytosis xref: ICD10:Q82.2 xref: MEDDRA:10046752 xref: MESH:D014582 xref: OMIM:154800 xref: SNOMED CT:78745000 xref: UMLS:C0042111 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:66646 ! Cutaneous mastocytosis property_value: alternative:term "Urticaria pigmentosa" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM; see this term) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin." xsd:string [Term] id: Orphanet:79458 name: Oley syndrome xref: ICD10:L98.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma relationship: part_of Orphanet:98584 ! Malignant tumor of palpebral epidermis relationship: part_of Orphanet:98598 ! Congenital absence of the eyebrow/eyelashes property_value: alternative:term "Congenital hypotrichosis - milia" xsd:string [Term] id: Orphanet:79459 name: Follicular atrophoderma-basal cell carcinoma xref: ICD10:L98.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:113 ! Bazex-Dupré-Christol syndrome [Term] id: Orphanet:79466 name: Inflammatory linear verrucous epidermal nevus xref: ICD10:Q82.5 xref: SNOMED CT:399995006 xref: UMLS:C0473574 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:2611 ! Linear verrucous nevus syndrome property_value: alternative:term "ILVEN" xsd:string [Term] id: Orphanet:79467 name: Verrucous nevus xref: ICD10:Q82.5 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:2611 ! Linear verrucous nevus syndrome [Term] id: Orphanet:79468 name: Acanthokeratolytic verrucous nevus xref: ICD10:Q82.5 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:2611 ! Linear verrucous nevus syndrome [Term] id: Orphanet:79473 name: Porphyria variegata xref: ICD10:E80.2 xref: OMIM:176200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:95157 ! Acute hepatic porphyria property_value: alternative:term "Protoporphyrinogen oxidase deficiency" xsd:string property_value: alternative:term "Variegate porphyria" xsd:string [Term] id: Orphanet:79474 name: Atypical Werner syndrome xref: ICD10:E34.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:139033 ! Progeroid syndrome relationship: part_of Orphanet:363245 ! Genetic progeroid syndrome property_value: alternative:term "Atypical progeroid syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population." xsd:string [Term] id: Orphanet:79476 name: Griscelli disease type 1 xref: ICD10:E70.3 xref: MESH:C537301 xref: OMIM:214450 xref: UMLS:C1859194 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:102005 ! Brain inflammatory disease relationship: part_of Orphanet:381 ! Griscelli disease property_value: alternative:term "Griscelli-Pruniéras syndrome type 1" xsd:string property_value: alternative:term "Hypopigmentation - neurologic impairment" xsd:string [Term] id: Orphanet:79477 name: Griscelli disease type 2 xref: ICD10:E70.3 xref: MESH:C537302 xref: OMIM:607624 xref: UMLS:C1868679 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:183494 ! Genetic immune deficiency with skin involvement relationship: part_of Orphanet:331184 ! Constitutional neutropenia with extra-haematopoietic manifestations relationship: part_of Orphanet:331249 ! Immunodeficiency syndrome with hypopigmentation relationship: part_of Orphanet:381 ! Griscelli disease relationship: part_of Orphanet:79391 ! Immune deficiency with skin involvement property_value: alternative:term "Griscelli-Pruniéras syndrome type 2" xsd:string property_value: alternative:term "Hypopigmentation - immunodeficiency with or without neurologic impairment" xsd:string [Term] id: Orphanet:79478 name: Griscelli disease type 3 xref: ICD10:E70.3 xref: MESH:C537303 xref: OMIM:609227 xref: UMLS:C1836573 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:381 ! Griscelli disease property_value: alternative:term "Griscelli-Pruniéras syndrome type 3" xsd:string [Term] id: Orphanet:79479 name: Pemphigus vegetans xref: ICD10:L10.1 xref: MEDDRA:10057053 xref: SNOMED CT:238937005 xref: SNOMED CT:81285006 xref: UMLS:C0263316 xref: UMLS:C0406647 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:704 ! Pemphigus vulgaris [Term] id: Orphanet:79480 name: Pemphigus erythematosus xref: ICD10:L10.4 xref: MEDDRA:10058917 xref: SNOMED CT:36739006 xref: UMLS:C0263312 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:46485 ! Superficial pemphigus property_value: alternative:term "Seborrheic pemphigus" xsd:string property_value: alternative:term "Senear-Usher syndrome" xsd:string [Term] id: Orphanet:79481 name: Pemphigus foliaceus xref: ICD10:L10.2 xref: MEDDRA:10057069 xref: SNOMED CT:35154004 xref: UMLS:C0263313 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:46485 ! Superficial pemphigus [Term] id: Orphanet:79482 name: Cutis verticis gyrata - thyroid aplasia - intellectual deficit is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_357225 with label: Primary non-essential cutis verticis gyrata" xsd:string [Term] id: Orphanet:79483 name: Phakomatosis cesioflammea xref: ICD10:Q85.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:2875 ! Phakomatosis pigmentovascularis property_value: alternative:term "Phakomatosis pigmentovascularis type 2" xsd:string [Term] id: Orphanet:79484 name: Phakomatosis cesiomarmorata xref: ICD10:Q85.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:2875 ! Phakomatosis pigmentovascularis property_value: alternative:term "Phakomatosis pigmentovascularis type 5" xsd:string [Term] id: Orphanet:79485 name: Phakomatosis spilorosea xref: ICD10:Q85.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:2875 ! Phakomatosis pigmentovascularis property_value: alternative:term "Phakomatosis pigmentovascularis type 3" xsd:string [Term] id: Orphanet:79486 name: Cystic hygroma xref: ICD10:D18.1 xref: OMIM:257350 xref: SNOMED CT:399882002 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:137923 ! Cervicofacial lymphatic malformation [Term] id: Orphanet:79489 name: Macrocystic lymphatic malformation xref: ICD10:D18.1 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:2415 ! Lymphatic malformation property_value: alternative:term "Cavernous lymphangioma" xsd:string property_value: alternative:term "Cavernous lymphatic malformation" xsd:string property_value: alternative:term "Macrocystic lymphangioma" xsd:string [Term] id: Orphanet:79490 name: Microcystic lymphatic malformation xref: ICD10:D18.1 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:2415 ! Lymphatic malformation property_value: alternative:term "Capillary lymphangioma" xsd:string property_value: alternative:term "Capillary lymphatic malformation" xsd:string property_value: alternative:term "Cutaneous lymphangioma circumscriptum" xsd:string property_value: alternative:term "Microcystic infiltrating lymphatic malformation" xsd:string property_value: alternative:term "Microcystic lymphangioma" xsd:string property_value: alternative:term "Superficial lymphangioma" xsd:string property_value: alternative:term "Superficial lymphatic malformation" xsd:string [Term] id: Orphanet:79492 name: Pili gemini xref: ICD10:L67.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:720 ! Pili bifurcati property_value: alternative:term "Pili multigemini" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair." xsd:string [Term] id: Orphanet:79493 name: Brooke-Spiegler syndrome xref: OMIM:132700 xref: OMIM:601606 xref: OMIM:605041 xref: UMLS:C1857941 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma relationship: part_of Orphanet:98590 ! Palpebral piliary tumor [Term] id: Orphanet:79495 name: X-linked congenital generalized hypertrichosis xref: ICD10:Q84.2 xref: OMIM:307150 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:2222 ! Hypertrichosis lanuginosa congenita property_value: alternative:term "Congenital generalized hypertrichosis, Macias-Flores type" xsd:string property_value: alternative:term "Macias Flores-Garcia Cruz-Rivera syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness." xsd:string [Term] id: Orphanet:79499 name: Deafness - onychodystrophy, autosomal dominant xref: ICD10:Q87.8 xref: OMIM:124480 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3231 ! Deafness - onychodystrophy property_value: alternative:term "DDOD syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant deafness-onychodystrophy (DDOD) syndrome is a very rare condition characterized by congenital hearing impairment, absent or hypoplastic nails on the hands and feet and brachydactyly." xsd:string [Term] id: Orphanet:795 name: Rare form of salmonellosis xref: ICD10:A01.0 xref: ICD10:A01.1 xref: ICD10:A01.2 xref: ICD10:A01.3 xref: ICD10:A01.4 xref: ICD10:A02.0 xref: ICD10:A02.1 xref: ICD10:A02.2 xref: ICD10:A02.8 xref: ICD10:A02.9 xref: MEDDRA:10039447 is_a: Orphanet:163582 ! Rare bacterial infectious disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 [Term] id: Orphanet:79500 name: Autosomal recessive deafness-onychodystrophy syndrome xref: ICD10:Q87.8 xref: OMIM:220500 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3231 ! Deafness - onychodystrophy property_value: alternative:term "Deafness - onycho-osteodystrophy - intellectual deficit" xsd:string property_value: alternative:term "Deafness - onychodystrophy - osteodystrophy - intellectual deficit" xsd:string property_value: alternative:term "DOOR syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hyperkalemic RTA is a disorder associated with a generalized transport abnormality of the distal tubule and characterized by hyperchloremic metabolic acidosis and hyperkalemia due to an aldosterone deficiency or impairment in aldosterone molecular signaling. ." xsd:string [Term] id: Orphanet:79501 name: Punctate palmoplantar keratoderma type 1 xref: ICD10:Q82.8 xref: OMIM:148600 xref: OMIM:614936 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2338 ! Isolated punctate palmoplantar keratoderma property_value: alternative:term "Buschke-Fischer-Brauer syndrome" xsd:string property_value: alternative:term "Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type" xsd:string property_value: alternative:term "PPKP1" xsd:string [Term] id: Orphanet:79502 name: Punctate palmoplantar keratoderma type 2 xref: ICD10:Q82.8 xref: OMIM:175860 xref: UMLS:C1867982 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:2338 ! Isolated punctate palmoplantar keratoderma property_value: alternative:term "PPKP2" xsd:string property_value: alternative:term "PPPP" xsd:string property_value: alternative:term "Punctate palmoplantar hyperkeratosis type 2" xsd:string [Term] id: Orphanet:79503 name: Ichthyosis hystrix of Curth-Macklin xref: ICD10:Q80.8 xref: MESH:C536088 xref: OMIM:146590 xref: SNOMED CT:254170001 xref: UMLS:C0432307 xref: UMLS:C1840296 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:281103 ! Keratinopathic ichthyosis property_value: alternative:term "Ichthyosis hystrix, Curth-Macklin type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term)." xsd:string [Term] id: Orphanet:79504 name: Ichthyosis hystrix gravior xref: ICD10:Q80.0 xref: MESH:C536087 xref: OMIM:146600 xref: UMLS:C0432311 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:281103 ! Keratinopathic ichthyosis property_value: alternative:term "Ichthyosis, Lambert type" xsd:string [Term] id: Orphanet:79506 name: Cholesterol-ester transfer protein deficiency xref: ICD10:E78.4 xref: OMIM:143470 xref: OMIM:614028 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:181428 ! Hyperalphalipoproteinemia property_value: alternative:term "CEPT deficiency" xsd:string property_value: alternative:term "Familial hyperalphalipoproteinemia" xsd:string [Term] id: Orphanet:79507 name: Hypotonia - failure to thrive - microcephaly xref: OMIM:614037 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:91088 ! Other metabolic disease property_value: alternative:term "Leukotriene C4 synthase deficiency" xsd:string property_value: alternative:term "LTC4 synthase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly." xsd:string [Term] id: Orphanet:796 name: Sandhoff disease xref: ICD10:E75.0 xref: MESH:D012497 xref: OMIM:268800 xref: SNOMED CT:23849003 xref: UMLS:C0036161 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:309152 ! GM2 gangliosidosis relationship: part_of Orphanet:98544 ! Cerebral lipidosis with dementia relationship: part_of Orphanet:98714 ! Metabolic disease with macular cherry-red spot property_value: alternative:term "GM2 gangliosidosis 0 variant" xsd:string property_value: alternative:term "Hexosaminidases A and B deficiency" xsd:string [Term] id: Orphanet:79643 name: Autosomal recessive hyperinsulinism due to SUR1 deficiency xref: ICD10:E16.1 xref: OMIM:256450 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:165988 ! Diazoxide-resistant diffuse hyperinsulinism property_value: alternative:term "Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency" xsd:string [Term] id: Orphanet:79644 name: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency xref: ICD10:E16.1 xref: OMIM:601820 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:165988 ! Diazoxide-resistant diffuse hyperinsulinism property_value: alternative:term "Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" xsd:string [Term] id: Orphanet:79651 name: Mild hyperphenylalaninemia xref: ICD10:E70.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:716 ! Phenylketonuria property_value: alternative:term "mHPA" xsd:string property_value: alternative:term "Mild HPA" xsd:string property_value: alternative:term "Non-PKU HPA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria (see this term), an inborn error of amino acid metabolism, characterized by mild symptoms of HPA." xsd:string [Term] id: Orphanet:79665 name: Gardner syndrome xref: ICD10:D12.6 xref: MEDDRA:10017727 xref: MESH:D005736 xref: OMIM:175100 xref: SNOMED CT:60876000 xref: UMLS:C0017097 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:183487 ! Genetic skin tumor relationship: part_of Orphanet:733 ! Familial adenomatous polyposis relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis relationship: part_of Orphanet:98585 ! Palpebral sebaceus gland tumor relationship: part_of Orphanet:98703 ! Disease with potential neoplastic degeneration associated with ocular features [Term] id: Orphanet:79669 name: Autoimmune bullous skin disease is_a: Orphanet:315350 ! Autoimmune disease with skin involvement [Term] id: Orphanet:797 name: Sarcoidosis xref: ICD10:D86 xref: MEDDRA:10039486 xref: MESH:D012507 xref: OMIM:181000 xref: OMIM:612387 xref: OMIM:612388 xref: SNOMED CT:31541009 xref: UMLS:C0036202 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:166484 ! Inflammatory and autoimmune disease with epilepsy relationship: part_of Orphanet:182222 ! Rare systemic disease relationship: part_of Orphanet:206979 ! Granulomatous myositis relationship: part_of Orphanet:209007 ! Systemic inflammatory disease associated with an acquired peripheral neuropathy relationship: part_of Orphanet:217720 ! Non-familial restrictive cardiomyopathy relationship: part_of Orphanet:264745 ! Secondary interstitial lung disease specific to adulthood associated with a systemic disease relationship: part_of Orphanet:280926 ! Systemic diseases with anterior uveitis relationship: part_of Orphanet:280930 ! Systemic diseases with posterior uveitis relationship: part_of Orphanet:280933 ! Systemic diseases with panuveitis relationship: part_of Orphanet:324930 ! Granulomatous autoinflammatory syndrome relationship: part_of Orphanet:93551 ! Secondary glomerular disease relationship: part_of Orphanet:95617 ! Pituitary hormone deficiency secondary to a granulomatous disease property_value: alternative:term "Besnier-Boeck-Schaumann disease" xsd:string property_value: alternative:term "Boeck sarcoid" xsd:string property_value: alternative:term "Boeck's sarcoid" xsd:string [Term] id: Orphanet:798 name: Schinzel-Giedion syndrome xref: ICD10:Q87.0 xref: OMIM:269150 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "'Schinzel-Giedon syndrome is a rare genetic autosomal recessive multiple anomalies syndrome including severe facial dysmorphism (hypoplastic middle part of the face, ocular proptosis, deep groove under the lower eyelid, hypertelorism, and overall coarse features), lack of closure of fontanelles, a short neck with excess skin, urogenital malformations (uni- or bilateral hydronephrosis, micropenis or hypospadias in males and hypoplastic majora and minora labia in females), and skeletal disorders (synchondrosis of the exo- and supraoccipital bones that disappears within the first months; sclerosis of the base of the skull; wide ribs; hypoplastic pubian bones, often thickened diaphyses of long bones). '" xsd:string [Term] id: Orphanet:799 name: Schizencephaly xref: ICD10:Q04.6 xref: OMIM:269160 xref: SNOMED CT:253159001 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:166478 ! Cerebral malformation with epilepsy relationship: part_of Orphanet:269190 ! Encephaloclastic disorder property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "\"Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation. \"" xsd:string [Term] id: Orphanet:8 name: 47,XYY syndrome xref: ICD10:Q98.5 xref: MEDDRA:10056894 xref: MESH:C535317 xref: MESH:D014997 xref: SNOMED CT:50749006 xref: UMLS:C0043379 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:263746 ! Y chromosome number anomaly property_value: alternative:term "Disomy Y" xsd:string property_value: alternative:term "Double y" xsd:string [Term] id: Orphanet:800 name: Schwartz-Jampel syndrome xref: ICD10:G71.1 xref: OMIM:255800 xref: SNOMED CT:29145002 xref: UMLS:C0036391 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206644 ! Progressive muscular dystrophy relationship: part_of Orphanet:206973 ! Congenital myotonia relationship: part_of Orphanet:207101 ! Qualitative or quantitative defects of perlecan relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:93424 ! Perlecan-related bone disorder relationship: part_of Orphanet:98620 ! Syndromic myopia property_value: alternative:term "Aberfeld syndrome" xsd:string property_value: alternative:term "Burton disease" xsd:string property_value: alternative:term "Burton skeletal dysplasia" xsd:string property_value: alternative:term "Burton syndrome" xsd:string property_value: alternative:term "Catel-Hempel syndrome" xsd:string property_value: alternative:term "Dysostosis enchondralis metaepiphysaria, Catel-Hempel type" xsd:string property_value: alternative:term "Myotonic chondrodystrophy" xsd:string property_value: alternative:term "Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies" xsd:string property_value: alternative:term "Osteochondromuscular dystrophy" xsd:string property_value: alternative:term "Schwartz-Jampel syndrome type 1" xsd:string property_value: alternative:term "Schwartz-Jampel-Aberfeld syndrome" xsd:string property_value: alternative:term "SJS" xsd:string property_value: alternative:term "SJS1" xsd:string [Term] id: Orphanet:801 name: Scleroderma xref: ICD10:M34 xref: MEDDRA:10039710 xref: SNOMED CT:89155008 xref: UMLS:C0011644 is_a: Orphanet:290836 ! Systemic disease with skin involvement relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc) (see these terms)." xsd:string [Term] id: Orphanet:803 name: Amyotrophic lateral sclerosis xref: ICD10:G12.2 xref: MEDDRA:10002026 xref: MESH:D000690 xref: OMIM:105400 xref: OMIM:205250 xref: OMIM:300857 xref: OMIM:606640 xref: OMIM:608030 xref: OMIM:608031 xref: OMIM:608627 xref: OMIM:611895 xref: OMIM:612069 xref: OMIM:612577 xref: OMIM:613435 xref: OMIM:613954 xref: OMIM:614696 xref: OMIM:614808 xref: OMIM:615426 xref: OMIM:615515 xref: SNOMED CT:86044005 xref: UMLS:C0002736 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:98503 ! Motor neuron disease property_value: alternative:term "ALS" xsd:string property_value: alternative:term "Charcot disease" xsd:string property_value: alternative:term "Lou-Gehrig disease" xsd:string [Term] id: Orphanet:805 name: Tuberous sclerosis xref: ICD10:Q85.1 xref: MEDDRA:10045138 xref: MESH:D014402 xref: OMIM:191100 xref: OMIM:613254 xref: SNOMED CT:7199000 xref: UMLS:C0041341 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:166466 ! Neurocutaneous syndrome with epilepsy relationship: part_of Orphanet:180772 ! Rare disease with autism relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:183481 ! Genetic mixed dermis disorder relationship: part_of Orphanet:183595 ! Genetic renal tumor relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:252190 ! Inherited nervous system cancer-predisposing syndrome relationship: part_of Orphanet:319328 ! Inherited renal cell cancer-predisposing syndrome relationship: part_of Orphanet:79380 ! Mixed dermis disorder relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma relationship: part_of Orphanet:89832 ! Syndromic lymphedema relationship: part_of Orphanet:93587 ! Familial cystic renal disease relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis relationship: part_of Orphanet:98601 ! Eyebrow/eyelashes pigmentation anomaly relationship: part_of Orphanet:98701 ! Phakomatosis with eye involvement property_value: alternative:term "Bourneville syndrome" xsd:string property_value: alternative:term "Tuberous sclerosis complex" xsd:string [Term] id: Orphanet:806 name: Scott syndrome xref: ICD10:D69.8 xref: OMIM:262890 xref: SNOMED CT:128098009 xref: UMLS:C0796149 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:275736 ! Rare hemorrhagic disorder due to a platelets receptors defect property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." xsd:string [Term] id: Orphanet:807 name: Sebastian syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_182050 with label: MYH9-related thrombocytopenia" xsd:string [Term] id: Orphanet:808 name: Seckel syndrome xref: ICD10:Q87.1 xref: MESH:C537533 xref: OMIM:210600 xref: OMIM:600546 xref: OMIM:606744 xref: OMIM:608664 xref: OMIM:613676 xref: OMIM:613823 xref: SNOMED CT:57917004 xref: UMLS:C0265202 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:324761 ! Microcephalic primordial dwarfism [Term] id: Orphanet:809 name: Mixed connective tissue disease xref: ICD10:M35.1 xref: MEDDRA:10027754 xref: MESH:D008947 xref: SNOMED CT:398021003 xref: UMLS:C0026272 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:182104 ! Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease relationship: part_of Orphanet:209007 ! Systemic inflammatory disease associated with an acquired peripheral neuropathy relationship: part_of Orphanet:251312 ! Overlapping connective tissue disease relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "MCTD" xsd:string property_value: alternative:term "Sharp syndrome" xsd:string [Term] id: Orphanet:81 name: Antisynthetase syndrome xref: ICD10:D89.8 xref: MEDDRA:10068801 xref: MESH:C537778 xref: SNOMED CT:445187004 xref: UMLS:C2609059 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182228 ! Systemic autoimmune disease relationship: part_of Orphanet:98482 ! Idiopathic inflammatory myopathy property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Antisynthetase(AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic' hands, interstitial lung disease (ILD),and serum autoantibodies toaminoacyl transfer RNA synthetases (anti-ARS)." xsd:string [Term] id: Orphanet:810 name: Shigellosis xref: ICD10:A03.0 xref: ICD10:A03.1 xref: ICD10:A03.2 xref: ICD10:A03.3 xref: ICD10:A03.8 xref: ICD10:A03.9 xref: SNOMED CT:36188001 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease [Term] id: Orphanet:811 name: Shwachman-Diamond syndrome xref: ICD10:D61.0 xref: MEDDRA:10067940 xref: OMIM:260400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101937 ! Rare pancreatic disease relationship: part_of Orphanet:165661 ! Genetic pancreatic disease relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:183681 ! Functional neutrophil defect relationship: part_of Orphanet:68383 ! Rare constitutional medullar aplasia relationship: part_of Orphanet:93430 ! Multiple metaphyseal dysplasia property_value: alternative:term "Congenital lipomatosis of pancreas" xsd:string [Term] id: Orphanet:812 name: Sialidosis type 1 xref: ICD10:E77.1 xref: OMIM:256550 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309294 ! Sialidosis relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:98714 ! Metabolic disease with macular cherry-red spot property_value: alternative:term "Cherry-red spot-myoclonus syndrome" xsd:string property_value: alternative:term "Lipomucopolysaccharidosis" xsd:string property_value: alternative:term "Normomorphic sialidosis" xsd:string property_value: alternative:term "Syndrome \"cherry-red spot-myoclonus\"" xsd:string [Term] id: Orphanet:813 name: Silver-Russell syndrome xref: ICD10:Q87.1 xref: MEDDRA:10062282 xref: MESH:D056730 xref: OMIM:180860 xref: OMIM:312780 xref: SNOMED CT:15069006 xref: UMLS:C0175693 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:139021 ! Malformation syndrome with short stature relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:183570 ! Genetic malformation syndrome with short stature relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "Silver-Russell dwarfism" xsd:string [Term] id: Orphanet:816 name: Sjögren-Larsson syndrome xref: ICD10:E71.3 xref: MEDDRA:10048676 xref: MESH:D016111 xref: OMIM:270200 xref: SNOMED CT:111303009 xref: UMLS:C0037231 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:281238 ! Autosomal ichthyosis syndrome with prominent neurologics signs relationship: part_of Orphanet:352306 ! Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy relationship: part_of Orphanet:98699 ! Syndromic ichthyosis associated with ocular features relationship: part_of Orphanet:98712 ! Metabolic disease with cataract relationship: part_of Orphanet:98713 ! Metabolic disease with pigmentary retinitis property_value: alternative:term "Fatty acid alcohol oxidoreductase deficiency" xsd:string [Term] id: Orphanet:817 name: Peeling skin syndrome xref: ICD10:Q80.8 xref: SNOMED CT:238643009 xref: UMLS:C0406357 is_a: Orphanet:281082 ! Inherited ichthyosis nonsyndromic form relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Deciduous skin" xsd:string property_value: alternative:term "Familial continuous skin peeling syndrome" xsd:string property_value: alternative:term "Idiopathic deciduous skin" xsd:string property_value: alternative:term "Keratosis exfoliativa congenita" xsd:string property_value: alternative:term "Peeling skin disease" xsd:string property_value: alternative:term "PSS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS." xsd:string [Term] id: Orphanet:818 name: Smith-Lemli-Opitz syndrome xref: ICD10:Q87.1 xref: MESH:D019082 xref: OMIM:270400 xref: SNOMED CT:43929004 xref: UMLS:C0175694 xref: UMLS:C2713347 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:138063 ! Syndrome associated with Pierre Robin syndrome relationship: part_of Orphanet:139009 ! Developmental anomaly of metabolic origin relationship: part_of Orphanet:139021 ! Malformation syndrome with short stature relationship: part_of Orphanet:182073 ! Syndromic neurometabolic disease with non-X-linked intellectual deficit relationship: part_of Orphanet:183570 ! Genetic malformation syndrome with short stature relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy relationship: part_of Orphanet:325511 ! 46,XY disorder of sex development due to cholesterol synthesis defect relationship: part_of Orphanet:79195 ! Sterol biosynthesis disorder relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:98574 ! Syndromic epicanthus relationship: part_of Orphanet:98578 ! Ptosis relationship: part_of Orphanet:98650 ! Craniofacial anomaly with cataract relationship: part_of Orphanet:98712 ! Metabolic disease with cataract property_value: alternative:term "7-dehydrocholesterol reductase deficiency" xsd:string property_value: alternative:term "RSH syndrome" xsd:string property_value: alternative:term "SLOS" xsd:string [Term] id: Orphanet:819 name: Smith-Magenis syndrome xref: ICD10:Q87.8 xref: MESH:D058496 xref: OMIM:182290 xref: SNOMED CT:401315004 xref: UMLS:C0795864 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:138063 ! Syndrome associated with Pierre Robin syndrome relationship: part_of Orphanet:180772 ! Rare disease with autism relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:261965 ! Partial monosomy of the short arm of chromosome 17 property_value: alternative:term "17p11.2 microdeletion" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." xsd:string [Term] id: Orphanet:82 name: Hereditary thrombophilia due to congenital antithrombin deficiency xref: ICD10:D68.5 xref: OMIM:613118 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:217454 ! Rare hereditary thrombophilia property_value: alternative:term "Hereditary thrombophilia due to congenital antithrombin 3 deficiency" xsd:string [Term] id: Orphanet:820 name: Sneddon syndrome xref: ICD10:I77.8 xref: MEDDRA:10053841 xref: MESH:D018860 xref: OMIM:182410 xref: SNOMED CT:238776001 xref: UMLS:C0282492 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:156143 ! Predominantly medium-vessel vasculitis relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease relationship: part_of Orphanet:90077 ! Other acquired skin disease property_value: alternative:term "Ehrmann-Sneddon syndrome" xsd:string property_value: alternative:term "Livedo racemosa and cerebrovascular accidents" xsd:string property_value: alternative:term "Livedo reticularis and cerebrovascular accidents" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa." xsd:string [Term] id: Orphanet:82004 name: Ehlers-Danlos syndrome with periventricular heterotopia xref: ICD10:Q79.6 xref: OMIM:300537 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98249 ! Ehlers-Danlos syndrome property_value: alternative:term "EDS with periventricular heterotopia" xsd:string [Term] id: Orphanet:821 name: Sotos syndrome xref: ICD10:Q87.3 xref: MEDDRA:10064387 xref: MESH:D058495 xref: OMIM:117550 xref: OMIM:614753 xref: SNOMED CT:75968004 xref: UMLS:C0175695 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:262038 ! Partial deletion of the long arm of chromosome 5 relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:93460 ! Overgrowth syndrome relationship: part_of Orphanet:98645 ! Cerebral disease with cataract property_value: alternative:term "Cerebral gigantism" xsd:string [Term] id: Orphanet:822 name: Hereditary spherocytosis xref: ICD10:D58.0 xref: MEDDRA:10019904 xref: MESH:C536356 xref: MESH:D013103 xref: OMIM:182900 xref: OMIM:270970 xref: OMIM:612653 xref: OMIM:612690 xref: SNOMED CT:55995005 xref: UMLS:C0037889 xref: UMLS:C0221409 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:98364 ! Rare constitutional hemolytic anemia due to a red cell membrane anomaly property_value: alternative:term "Minkowski-Chauffard disease" xsd:string [Term] id: Orphanet:823 name: Isolated spina bifida xref: ICD10:Q05 xref: MEDDRA:10041524 xref: MESH:D016135 xref: OMIM:182940 xref: OMIM:301410 xref: OMIM:601634 xref: SNOMED CT:67531005 xref: UMLS:C0080178 is_a: Orphanet:268357 ! Neural tube closure defect relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 [Term] id: Orphanet:824 name: Myelofibrosis with myeloid metaplasia xref: ICD10:D47.4 xref: OMIM:254450 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:164823 ! Rare acquired medullar aplasia relationship: part_of Orphanet:98274 ! Myeloproliferative neoplasm property_value: alternative:term "Agnogenic myeloid metaplasia" xsd:string property_value: alternative:term "Idiopathic myelofibrosis" xsd:string property_value: alternative:term "Myelosclerosis with myeloid metaplasia" xsd:string property_value: alternative:term "Primary myelofibrosis" xsd:string [Term] id: Orphanet:826 name: Sporotrichosis xref: ICD10:B42 xref: MEDDRA:10041736 xref: MESH:D013174 xref: SNOMED CT:42094007 xref: UMLS:C0038034 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:163591 ! Rare mycosis [Term] id: Orphanet:827 name: Stargardt disease xref: ICD10:H35.5 xref: MEDDRA:10062766 xref: OMIM:248200 xref: OMIM:600110 xref: OMIM:603786 xref: SNOMED CT:70099003 xref: UMLS:C0271093 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:227786 ! Familial flecked retinopathy property_value: alternative:term "Fundus flavimaculatus" xsd:string property_value: alternative:term "Macular dystrophy with flecks" xsd:string [Term] id: Orphanet:828 name: Stickler syndrome xref: ICD10:Q87.5 xref: MEDDRA:10063402 xref: MESH:C537492 xref: OMIM:108300 xref: OMIM:604841 xref: OMIM:609508 xref: OMIM:614134 xref: OMIM:614284 xref: SNOMED CT:78675000 xref: UMLS:C0265253 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:138041 ! Pierre Robin syndrome associated with collagen disease relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98620 ! Syndromic myopia relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature relationship: part_of Orphanet:98648 ! Musculoskeletal disease with cataract relationship: part_of Orphanet:98670 ! Vitreoretinal degeneration property_value: alternative:term "Hereditary progressive arthroophthalmopathy" xsd:string [Term] id: Orphanet:829 name: Adult Still's disease xref: ICD10:M06.1 xref: MEDDRA:10058493 xref: MEDDRA:10064056 xref: MESH:D014924 xref: MESH:D016706 xref: SNOMED CT:239920006 xref: SNOMED CT:68190001 xref: UMLS:C0043195 xref: UMLS:C0085253 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:182231 ! Rare rheumatologic disease relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "Wissler-Fanconi syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Adult onset Still's disease is a rare rheumatic condition characterized by a combination of symptoms, such as fever higher than 39_C, cutaneous rash during fever peaks, joint or muscle pain, lymph node hypertrophy, increase of white blood cells (especially polymorphonuclear neutrophils) and abnormalities of liver metabolism." xsd:string [Term] id: Orphanet:83 name: Antley-Bixler syndrome xref: ICD10:Q87.0 xref: MESH:C537780 xref: OMIM:207410 xref: SNOMED CT:62964007 xref: UMLS:C0265307 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit [Term] id: Orphanet:830 name: Stuccokeratosis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79359 ! Other epidermis disorder [Term] id: Orphanet:83001 name: Urogenital tract malformation is_a: Orphanet:101433 ! Rare urogenital disease is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis [Term] id: Orphanet:831 name: Congenital narrowing of cervical spinal canal xref: ICD10:Q06.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:102000 ! Medullar disease [Term] id: Orphanet:832 name: Succinyl-CoA:3-ketoacid CoA transferase deficiency xref: ICD10:E71.3 xref: OMIM:245050 xref: SNOMED CT:238004006 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79183 ! Disorder of ketone body metabolism property_value: alternative:term "OXCT1 deficiency" xsd:string property_value: alternative:term "SCOT deficiency" xsd:string property_value: alternative:term "Succinyl-CoA acetoacetate transferase deficiency" xsd:string property_value: alternative:term "Succinyl-CoA:3-oxoacid CoA transferase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis." xsd:string [Term] id: Orphanet:833 name: Encephalopathy due to sulfite oxidase deficiency xref: ICD10:E72.1 xref: OMIM:252150 xref: OMIM:252160 xref: OMIM:272300 xref: OMIM:615501 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:139009 ! Developmental anomaly of metabolic origin relationship: part_of Orphanet:225689 ! Amino acid or protein metabolism disease with epilepsy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79173 ! Disorder of methionine cycle and sulfur amino acid metabolism relationship: part_of Orphanet:98653 ! Lens position anomaly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation." xsd:string [Term] id: Orphanet:83311 name: Rocky Mountain spotted fever xref: ICD10:A77.0 xref: MEDDRA:10039207 xref: MESH:D012373 xref: SNOMED CT:186772009 xref: UMLS:C0035793 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102022 ! Spot fever rickettsiae disease [Term] id: Orphanet:83312 name: Rickettsialpox xref: ICD10:A79.1 xref: MEDDRA:10039137 xref: SNOMED CT:75096007 xref: UMLS:C0035597 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102022 ! Spot fever rickettsiae disease [Term] id: Orphanet:83313 name: Boutonneuse fever xref: ICD10:A77.1 xref: MEDDRA:10006045 xref: MESH:D001907 xref: SNOMED CT:186774005 xref: UMLS:C0006060 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:102022 ! Spot fever rickettsiae disease property_value: alternative:term "Marseilles fever" xsd:string property_value: alternative:term "Mediterranean boutonneuse fever" xsd:string property_value: alternative:term "Mediterranean spotted fever" xsd:string [Term] id: Orphanet:83314 name: Epidemic typhus xref: ICD10:A75.0 xref: MEDDRA:10014979 xref: MESH:D014438 xref: SNOMED CT:39111003 xref: UMLS:C0041473 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102023 ! Typhus group rickettsiae [Term] id: Orphanet:83315 name: Murine typhus xref: ICD10:A75.2 xref: MEDDRA:10028282 xref: SNOMED CT:25668000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102023 ! Typhus group rickettsiae [Term] id: Orphanet:83316 name: Pseudotyphus of California xref: ICD10:A79.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102023 ! Typhus group rickettsiae [Term] id: Orphanet:83317 name: Scrub typhus xref: ICD10:A75.3 xref: MEDDRA:10039766 xref: MESH:D012612 xref: SNOMED CT:271425001 xref: UMLS:C0036472 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease property_value: alternative:term "Tsutsugamushi disease" xsd:string property_value: alternative:term "Tsutsugamushi fever" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " bacterium and characterized clinically by an eruptive fever which is potentially serious." xsd:string [Term] id: Orphanet:83330 name: Proximal spinal muscular atrophy type 1 xref: ICD10:G12.0 xref: OMIM:253300 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:70 ! Proximal spinal muscular atrophy property_value: alternative:term "Infantile spinal muscular atrophy" xsd:string property_value: alternative:term "SMA-I" xsd:string property_value: alternative:term "SMA1" xsd:string property_value: alternative:term "Werdnig-Hoffmann disease" xsd:string [Term] id: Orphanet:834 name: Free sialic acid storage disease xref: ICD10:E77.8 xref: MEDDRA:10067529 xref: MEDDRA:10067531 xref: MESH:C538523 xref: OMIM:269920 xref: OMIM:604369 xref: SNOMED CT:238051008 xref: SNOMED CT:87074006 xref: UMLS:C2931872 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:225681 ! Lysosomal disease with epilepsy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79207 ! Disorder of lysosomal amino acid transport relationship: part_of Orphanet:93448 ! Lysosomal storage disease with skeletal involvement [Term] id: Orphanet:83418 name: Proximal spinal muscular atrophy type 2 xref: ICD10:G12.1 xref: OMIM:253550 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:70 ! Proximal spinal muscular atrophy property_value: alternative:term "Chronic infantile spinal muscular atrophy" xsd:string property_value: alternative:term "Chronic spinal muscular atrophy" xsd:string property_value: alternative:term "Intermediate spinal muscular atrophy" xsd:string property_value: alternative:term "SMA-II" xsd:string property_value: alternative:term "SMA2" xsd:string [Term] id: Orphanet:83419 name: Proximal spinal muscular atrophy type 3 xref: ICD10:G12.1 xref: OMIM:253400 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:70 ! Proximal spinal muscular atrophy property_value: alternative:term "Juvenile spinal muscular atrophy" xsd:string property_value: alternative:term "Kugelberg-Welander disease" xsd:string property_value: alternative:term "SMA type 3" xsd:string property_value: alternative:term "SMA-III" xsd:string property_value: alternative:term "SMA3" xsd:string [Term] id: Orphanet:83420 name: Proximal spinal muscular atrophy type 4 xref: ICD10:G12.1 xref: OMIM:271150 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:70 ! Proximal spinal muscular atrophy property_value: alternative:term "SMA-IV" xsd:string property_value: alternative:term "SMA4" xsd:string property_value: alternative:term "Spinal muscular atrophy, adult form" xsd:string [Term] id: Orphanet:83450 name: Regional odontodysplasia xref: ICD10:K00.4 xref: SNOMED CT:66063001 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:164001 ! Rare odontal or periodontal disorder property_value: alternative:term "Ghost teeth" xsd:string [Term] id: Orphanet:83451 name: Florid cemento-osseous dysplasia xref: ICD10:D16.4 xref: ICD10:D16.5 xref: MESH:C537063 xref: OMIM:137575 xref: SNOMED CT:63937004 xref: UMLS:C0555197 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:164001 ! Rare odontal or periodontal disorder property_value: alternative:term "Florid osseous dysplasia" xsd:string property_value: alternative:term "Focal cemento-osseous dysplasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged black women. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw." xsd:string [Term] id: Orphanet:83452 name: Complex regional pain syndrome xref: ICD10:G56.4 xref: ICD10:M89.0 xref: MEDDRA:10064332 xref: MESH:D020918 xref: OMIM:604335 xref: SNOMED CT:128200000 xref: UMLS:C0458219 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:83453 name: Vulvovaginal gingival syndrome xref: ICD10:L43.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:180205 ! Rare non-malformative utero-vaginal or vulvo-vaginal disease relationship: part_of Orphanet:254373 ! Rare mucosal lichen planus [Term] id: Orphanet:83454 name: Glomuvenous malformation xref: ICD10:Q27.8 xref: MEDDRA:10018381 xref: MESH:C536827 xref: OMIM:138000 xref: SNOMED CT:403969002 xref: UMLS:C1841984 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:211252 ! Venous malformation relationship: part_of Orphanet:371436 ! Genetic neurovascular malformation property_value: alternative:term "Glomangiomatosis" xsd:string property_value: alternative:term "Hereditary multiple glomangiomas" xsd:string property_value: alternative:term "Multiple glomus tumors" xsd:string property_value: alternative:term "Venous malformations with glomus cells" xsd:string property_value: alternative:term "VMGLOM" xsd:string [Term] id: Orphanet:83461 name: Congenital primary aphakia xref: ICD10:Q12.3 xref: MEDDRA:10002947 xref: MESH:C537786 xref: OMIM:610256 xref: SNOMED CT:35387008 xref: UMLS:C1853230 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: part_of Orphanet:98558 ! Rare eye disease due to a differentiation anomaly [Term] id: Orphanet:83463 name: Microtia xref: ICD10:Q17.2 xref: MEDDRA:10027555 xref: MESH:C537772 xref: OMIM:128800 xref: OMIM:600674 xref: OMIM:607842 xref: SNOMED CT:35045004 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:156243 ! Pinnae and external auditory canal anomaly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Microtia is a congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited and characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I where the auricle is simply smaller than normal, to grade IV, also known as anotia (see this term), where there is a complete absence of the external ear and of the auditory canal." xsd:string [Term] id: Orphanet:83465 name: Narcolepsy without cataplexy xref: ICD10:G47.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:68354 ! Sleep disorder [Term] id: Orphanet:83467 name: Morvan syndrome xref: ICD10:G60.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:166484 ! Inflammatory and autoimmune disease with epilepsy relationship: part_of Orphanet:71864 ! Muscular channelopathy property_value: alternative:term "Limbic encephalitis - neuromyotonia - hyperhidrosis - polyneuropathy" xsd:string property_value: alternative:term "Morvan's fibrillary chorea" xsd:string [Term] id: Orphanet:83468 name: Solitary bone cyst xref: ICD10:M85.4 xref: SNOMED CT:203467005 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:68411 ! Rare bone tumor property_value: alternative:term "Unicameral bone cyst" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported." xsd:string [Term] id: Orphanet:83469 name: Desmoplastic small round cell tumor xref: ICD10:C48.2 xref: MEDDRA:10064581 xref: MESH:D058405 xref: SNOMED CT:128735004 xref: UMLS:C0281508 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:168807 ! Primary malignant peritoneal tumor relationship: part_of Orphanet:3394 ! Soft tissue sarcoma property_value: alternative:term "DSRCT" xsd:string [Term] id: Orphanet:83471 name: Thymic aplasia xref: ICD10:D81.4 xref: OMIM:242700 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:331220 ! Immunodeficiency due to absence of thymus property_value: alternative:term "Nezelof syndrome" xsd:string [Term] id: Orphanet:83472 name: CAMOS syndrome xref: ICD10:G11.1 xref: OMIM:606937 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98095 ! Autosomal recessive congenital cerebellar ataxia relationship: part_of Orphanet:98677 ! Autosomal recessive syndromic optic atrophy property_value: alternative:term "Cerebellar ataxia - intellectual deficit - optic atrophy - skin abnormalities" xsd:string property_value: alternative:term "SCAR5" xsd:string [Term] id: Orphanet:83473 name: Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus xref: ICD10:Q04.8 xref: OMIM:603387 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature property_value: alternative:term "MPPH syndrome" xsd:string [Term] id: Orphanet:83476 name: West-Nile encephalitis xref: ICD10:A92.3 xref: SNOMED CT:392662004 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:166490 ! Infectious disease with epilepsy relationship: part_of Orphanet:98252 ! Infectious encephalitis property_value: alternative:term "West-Nile fever" xsd:string [Term] id: Orphanet:83482 name: Mycoplasma encephalitis xref: ICD10:B96.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:166490 ! Infectious disease with epilepsy relationship: part_of Orphanet:98252 ! Infectious encephalitis [Term] id: Orphanet:83483 name: California encephalitis xref: ICD10:A83.5 xref: MEDDRA:10014584 xref: MESH:D004670 xref: SNOMED CT:416442006 xref: SNOMED CT:417075004 xref: SNOMED CT:418531007 xref: UMLS:C0014053 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:166490 ! Infectious disease with epilepsy relationship: part_of Orphanet:98252 ! Infectious encephalitis [Term] id: Orphanet:83484 name: St. Louis encephalitis xref: ICD10:A83.3 xref: MEDDRA:10041896 xref: MESH:D004674 xref: SNOMED CT:417192005 xref: SNOMED CT:417607009 xref: UMLS:C0014060 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:166490 ! Infectious disease with epilepsy relationship: part_of Orphanet:98252 ! Infectious encephalitis property_value: alternative:term "Saint Louis encephalitis" xsd:string [Term] id: Orphanet:83593 name: Western equine encephalitis xref: ICD10:A83.1 xref: MEDDRA:10014614 xref: SNOMED CT:47523006 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:166490 ! Infectious disease with epilepsy relationship: part_of Orphanet:98252 ! Infectious encephalitis property_value: alternative:term "Western equine encephalomyelitis" xsd:string [Term] id: Orphanet:83594 name: Eastern equine encephalitis xref: ICD10:A83.2 xref: MEDDRA:10014587 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:166490 ! Infectious disease with epilepsy relationship: part_of Orphanet:98252 ! Infectious encephalitis property_value: alternative:term "Eastern equine encephalomyelitis" xsd:string [Term] id: Orphanet:83595 name: Colorado tick fever xref: ICD10:A93.2 xref: MEDDRA:10010022 xref: MESH:D003121 xref: SNOMED CT:6452009 xref: UMLS:C0009400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:166490 ! Infectious disease with epilepsy relationship: part_of Orphanet:98252 ! Infectious encephalitis property_value: alternative:term "American mountain fever" xsd:string property_value: alternative:term "Colorado tick encephalitis" xsd:string property_value: alternative:term "Colorado tick-borne disease" xsd:string property_value: alternative:term "Mountain fever" xsd:string property_value: alternative:term "Mountain tick fever" xsd:string [Term] id: Orphanet:83597 name: Acute disseminated encephalitis xref: ICD10:G04.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:166490 ! Infectious disease with epilepsy relationship: part_of Orphanet:228145 ! Multiple sclerosis variant relationship: part_of Orphanet:98253 ! Postinfectious encephalitis property_value: alternative:term "Acute disseminated encephalomyelitis" xsd:string property_value: alternative:term "ADEM" xsd:string [Term] id: Orphanet:83600 name: Encephalitis lethargica xref: ICD10:A85.8 xref: MEDDRA:10052369 xref: SNOMED CT:186499007 xref: UMLS:C0014040 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:166490 ! Infectious disease with epilepsy relationship: part_of Orphanet:306666 ! Rare parkinsonian syndrome due to neurodegenerative disease relationship: part_of Orphanet:98253 ! Postinfectious encephalitis [Term] id: Orphanet:83601 name: Steroid-responsive encephalopathy associated with autoimmune thyroiditis xref: ICD10:G04.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:247242 ! Acquired ataxia relationship: part_of Orphanet:98253 ! Postinfectious encephalitis property_value: alternative:term "Hashimoto encephalitis" xsd:string property_value: alternative:term "SREAT" xsd:string [Term] id: Orphanet:83616 name: Rubella panencephalitis xref: ICD10:B06.0+ xref: ICD10:G05.1* is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:166490 ! Infectious disease with epilepsy relationship: part_of Orphanet:98252 ! Infectious encephalitis relationship: part_of Orphanet:98255 ! Chronic encephalitis [Term] id: Orphanet:83617 name: Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis xref: ICD10:D82.8 xref: OMIM:610483 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183494 ! Genetic immune deficiency with skin involvement relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:229720 ! Syndromic agammaglobulinemia relationship: part_of Orphanet:79391 ! Immune deficiency with skin involvement [Term] id: Orphanet:83618 name: Severe dilated cardiomyopathy due to lamin A/C mutation is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_300751 with label: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation" xsd:string [Term] id: Orphanet:83619 name: Macrostomia - preauricular tags - external ophthalmoplegia xref: ICD10:Q87.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit [Term] id: Orphanet:83620 name: Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells xref: ICD10:P78.3 xref: OMIM:610370 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:104007 ! Congenital enteropathy involving intestinal mucosa development property_value: alternative:term "Enteric anendocrinosis" xsd:string [Term] id: Orphanet:83628 name: PELVIS syndrome xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:211237 ! Vascular tumor relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:79385 ! Unclassified genetic skin disease property_value: alternative:term "Perineal hemangioma - external genitalia malformations - lipomyelomeningocele - vesicorenal abnormalities - imperforate anus" xsd:string property_value: alternative:term "Urorectal septum malformation sequence" xsd:string [Term] id: Orphanet:83629 name: Leukoencephalopathy - metaphyseal chondrodysplasia xref: ICD10:G11.4 xref: OMIM:300660 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease [Term] id: Orphanet:83639 name: Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency xref: ICD10:E88.8 xref: OMIM:610293 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:248361 ! Rare thrombotic disorder due to a constitutional coagulation factors defect relationship: part_of Orphanet:309515 ! Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature property_value: alternative:term "PIGM-CDG" xsd:string [Term] id: Orphanet:83642 name: Microcytic anemia with liver iron overload xref: ICD10:D50.8 xref: OMIM:206100 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309842 ! Disorder of iron metabolism and transport relationship: part_of Orphanet:98360 ! Constitutional anemia due to iron metabolism disorder [Term] id: Orphanet:83648 name: X-linked recessive intellectual deficit - macrocephaly - ciliary dysfunction xref: ICD10:Q87.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:838 name: Susac syndrome xref: ICD10:I67.7 xref: MESH:D055955 xref: SNOMED CT:197679002 xref: UMLS:C2717757 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease property_value: alternative:term "RED-M" xsd:string property_value: alternative:term "Retinocochleocerebral vasculopathy" xsd:string property_value: alternative:term "Retinopathy, encephalopathy, deafness associated microangiopathy" xsd:string property_value: alternative:term "SICRET syndrome" xsd:string property_value: alternative:term "Small infarctions of cochlear, retinal and encephalic tissue" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear." xsd:string [Term] id: Orphanet:839 name: Congenital nephrotic syndrome, Finnish type xref: ICD10:N04 xref: MEDDRA:10060740 xref: MESH:C535761 xref: OMIM:256300 xref: SNOMED CT:197601003 xref: UMLS:C0403399 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:97556 ! Congenital and infantile nephrotic syndrome property_value: alternative:term "Finnish congenital nephrosis" xsd:string [Term] id: Orphanet:84 name: Fanconi anemia xref: ICD10:D61.0 xref: MEDDRA:10055206 xref: MESH:D005199 xref: OMIM:227645 xref: OMIM:227646 xref: OMIM:227650 xref: OMIM:300514 xref: OMIM:600901 xref: OMIM:603467 xref: OMIM:609053 xref: OMIM:609054 xref: OMIM:610832 xref: OMIM:613390 xref: OMIM:613951 xref: OMIM:614082 xref: OMIM:614083 xref: OMIM:614087 xref: OMIM:615272 xref: SNOMED CT:30575002 xref: UMLS:C0015625 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:68383 ! Rare constitutional medullar aplasia relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin relationship: part_of Orphanet:93614 ! Hematological disorder with renal involvement property_value: alternative:term "Fanconi pancytopenia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors." xsd:string [Term] id: Orphanet:840 name: Syringocystadenoma papilliferum xref: ICD10:D23.9 xref: MEDDRA:10042926 xref: SNOMED CT:239121009 xref: UMLS:C0406803 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma property_value: alternative:term "Fistulous vegetative verrucous hydradenoma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Syringocystadenomapapilliferum (SCAP) is a rare non-malginant adnexal sweat gland neoplasm characterized by asymptomatic, skin-colored to pink papules or plaques with a highly variable appearance, most commonly in the head and neck area." xsd:string [Term] id: Orphanet:84064 name: Syndromic diarrhea xref: OMIM:222470 xref: OMIM:614602 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101939 ! Rare parenchymatous liver disease relationship: part_of Orphanet:156604 ! Genetic parenchymatous liver disease relationship: part_of Orphanet:363300 ! Genetic intractable diarrhea of infancy relationship: part_of Orphanet:73014 ! Intractable diarrhea of infancy property_value: alternative:term "Phenotypic diarrhea" xsd:string property_value: alternative:term "SD/THE" xsd:string property_value: alternative:term "Syndromatic diarrhea" xsd:string property_value: alternative:term "Syndromic diarrhea/Tricho-hepato-enteric syndrome" xsd:string property_value: alternative:term "Tricho-hepato-enteric syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction." xsd:string [Term] id: Orphanet:84065 name: Idiopathic malabsorption due to bile acid synthesis defects xref: ICD10:K90.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:104005 ! Intestinal disease due to fat malabsorption relationship: part_of Orphanet:79168 ! Disorder of bile acid synthesis property_value: alternative:term "Idiopathic bile acid malabsorption" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea." xsd:string [Term] id: Orphanet:84081 name: Senior-Boichis syndrome xref: OMIM:613550 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93587 ! Familial cystic renal disease property_value: alternative:term "Boichis disease" xsd:string property_value: alternative:term "Nephronophthisis - hepatic fibrosis - tapetoretinal degeneration - intellectual deficit" xsd:string [Term] id: Orphanet:84085 name: Hinman syndrome xref: ICD10:N32.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101433 ! Rare urogenital disease property_value: alternative:term "HAS" xsd:string property_value: alternative:term "Hinman-Allen syndrome" xsd:string property_value: alternative:term "HS" xsd:string property_value: alternative:term "Non-neurogenic neurogenic bladder" xsd:string property_value: alternative:term "Occult neuropathic bladder" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits." xsd:string [Term] id: Orphanet:84087 name: Collagen type III glomerulopathy xref: ICD10:N07.6 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:93551 ! Secondary glomerular disease [Term] id: Orphanet:84090 name: Fibronectin glomerulopathy xref: ICD10:N07.6 xref: OMIM:137950 xref: OMIM:601894 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102373 ! Primary glomerular disease property_value: alternative:term "GFND" xsd:string property_value: alternative:term "Glomerulopathy with fibronectin deposits" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life." xsd:string [Term] id: Orphanet:84093 name: Hereditary thermosensitive neuropathy xref: ICD10:G60.0 xref: OMIM:602107 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:140453 ! Autosomal dominant hereditary demyelinating motor and sensory neuropathy [Term] id: Orphanet:84096 name: Unknown leukodystrophy xref: ICD10:E75.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:68356 ! Leukodystrophy [Term] id: Orphanet:841 name: Sebocystomatosis xref: ICD10:L72.2 xref: OMIM:184500 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183460 ! Genetic sebaceus gland anomaly relationship: part_of Orphanet:79372 ! Sebaceous gland anomaly property_value: alternative:term "Steatocystoma multiplex" xsd:string [Term] id: Orphanet:84132 name: Desmin-related myopathy with Mallory body-like inclusions xref: ICD10:G71.8 xref: OMIM:602771 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:206662 ! Inclusion myopathy relationship: part_of Orphanet:209041 ! Qualitative or quantitative defects of desmin relationship: part_of Orphanet:209193 ! Qualitative or quantitative defects of selenoprotein N1 property_value: alternative:term "Early-onset desmin-related myopathy" xsd:string [Term] id: Orphanet:84142 name: Isaac syndrome xref: ICD10:G71.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:71864 ! Muscular channelopathy property_value: alternative:term "Acquired neuromyotonia" xsd:string property_value: alternative:term "Continuous muscle fiber activity syndrome" xsd:string property_value: alternative:term "Isaac-Mertens syndrome" xsd:string property_value: alternative:term "Peripheral nerve hyperexcitability" xsd:string property_value: alternative:term "Quantal squander syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia." xsd:string [Term] id: Orphanet:842 name: Testicular seminomatous germ cell tumor xref: ICD10:C62 xref: OMIM:273300 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:363504 ! Testicular germ cell tumor property_value: alternative:term "Dysgerminoma of the testis" xsd:string property_value: alternative:term "Dysgerminomatous germ cell tumor of the testis" xsd:string property_value: alternative:term "Seminoma of the testis" xsd:string property_value: alternative:term "Seminomatous germ cell tumor of the testis" xsd:string property_value: alternative:term "Testicular dysgerminoma" xsd:string property_value: alternative:term "Testicular dysgerminomatous germ cell tumor" xsd:string property_value: alternative:term "Testicular seminoma" xsd:string [Term] id: Orphanet:84271 name: Sporadic idiopathic steroid-resistant nephrotic syndrome xref: ICD10:N04 is_a: Orphanet:357502 ! Idiopathic nephrotic syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Sporadic idiopathic nephrosis" xsd:string [Term] id: Orphanet:844 name: Atrial tachyarrhythmia with short PR interval xref: ICD10:I45.6 xref: OMIM:108950 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease property_value: alternative:term "Lown-Ganong-Levine syndrome" xsd:string [Term] id: Orphanet:845 name: Tay-Sachs disease xref: ICD10:E75.0 xref: MEDDRA:10043147 xref: MESH:D013661 xref: OMIM:272800 xref: SNOMED CT:111385000 xref: UMLS:C0039373 xref: UMLS:C1848922 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:309152 ! GM2 gangliosidosis relationship: part_of Orphanet:98544 ! Cerebral lipidosis with dementia relationship: part_of Orphanet:98714 ! Metabolic disease with macular cherry-red spot property_value: alternative:term "GM2-gangliosidosis, B, B1 variant" xsd:string property_value: alternative:term "Hexosaminidase A deficiency" xsd:string [Term] id: Orphanet:846 name: Alpha-thalassemia xref: ICD10:D56.0 xref: MEDDRA:10043390 xref: MESH:D017085 xref: OMIM:604131 xref: SNOMED CT:36467003 xref: SNOMED CT:68913001 xref: UMLS:C0002312 xref: UMLS:C1456873 is_a: Orphanet:275745 ! Alpha-thalassemia and related diseases is_a: Orphanet:93614 ! Hematological disorder with renal involvement relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." xsd:string [Term] id: Orphanet:847 name: Alpha-thalassemia - X-linked intellectual deficit syndrome xref: ICD10:D56.0 xref: OMIM:301040 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:232288 ! Alpha-thalassemia-related diseases relationship: part_of Orphanet:263355 ! ATR-X-related syndrome relationship: part_of Orphanet:325638 ! Syndrome with disorder of sex development of gynecological interest relationship: part_of Orphanet:98087 ! Syndrome with 46,XY disorder of sex development property_value: alternative:term "ATR-X syndrome" xsd:string [Term] id: Orphanet:848 name: Beta-thalassemia xref: ICD10:D56.1 xref: MEDDRA:10043391 xref: MESH:D017086 xref: OMIM:613985 xref: SNOMED CT:65959000 xref: SNOMED CT:79592006 xref: UMLS:C0005283 is_a: Orphanet:275749 ! Beta-thalassemia and related diseases is_a: Orphanet:93614 ! Hematological disorder with renal involvement is_a: Orphanet:95618 ! Pituitary hormone deficiency secondary to storage disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 [Term] id: Orphanet:849 name: Glanzmann thrombasthenia xref: ICD10:D69.1 xref: OMIM:273800 xref: SNOMED CT:32942005 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:275729 ! Rare hemorrhagic disorder due to a constitutional thrombocytopenia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia." xsd:string [Term] id: Orphanet:85 name: Congenital dyserythropoietic anemia xref: ICD10:D64.4 xref: MESH:D000742 xref: SNOMED CT:52951008 xref: UMLS:C0002876 is_a: Orphanet:293830 ! Constitutional dyserythropoietic anemia relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 property_value: alternative:term "CDA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)." xsd:string [Term] id: Orphanet:850 name: May-Hegglin thrombocytopenia is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_182050 with label: MYH9-related thrombocytopenia" xsd:string [Term] id: Orphanet:851 name: Paris-Trousseau thrombocytopenia xref: ICD10:D69.4 xref: MESH:C538617 xref: OMIM:188025 xref: UMLS:C1861178 xref: UMLS:C1956093 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:262092 ! Partial deletion of the long arm of chromosome 11 relationship: part_of Orphanet:275729 ! Rare hemorrhagic disorder due to a constitutional thrombocytopenia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis." xsd:string [Term] id: Orphanet:85102 name: Perineurioma xref: ICD10:C47.9 xref: SNOMED CT:128795001 xref: SNOMED CT:404036006 xref: UMLS:C0751691 is_a: Orphanet:252057 ! Tumor of cranial and spinal nerves [Term] id: Orphanet:85110 name: Familial encephalopathy with neuroserpin inclusion bodies xref: ICD10:G31.8 xref: MESH:C536841 xref: OMIM:604218 xref: UMLS:C1858680 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98261 ! Progressive myoclonic epilepsy property_value: alternative:term "FENIB" xsd:string [Term] id: Orphanet:85112 name: Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma xref: ICD10:Q56.0 xref: OMIM:610644 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:307804 ! Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature relationship: part_of Orphanet:325109 ! Syndrome with 46,XX disorder of sex development relationship: part_of Orphanet:325638 ! Syndrome with disorder of sex development of gynecological interest property_value: alternative:term "Palmoplantar hyperkeratosis - XX sex reversal - predisposition to squamous cell carcinoma" xsd:string [Term] id: Orphanet:85128 name: Bothnia retinal dystrophy xref: ICD10:H35.5 xref: OMIM:607475 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:71862 ! Retinal dystrophy property_value: alternative:term "Västerbotten dystrophy" xsd:string [Term] id: Orphanet:85136 name: Cystic leukoencephalopathy without megalencephaly xref: ICD10:E75.2 xref: OMIM:612951 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68356 ! Leukodystrophy property_value: alternative:term "CLWM" xsd:string [Term] id: Orphanet:85138 name: Addison disease xref: ICD10:E27.1 xref: MEDDRA:10001130 xref: MESH:D000224 xref: OMIM:103230 xref: OMIM:240200 xref: SNOMED CT:363732003 xref: SNOMED CT:76715008 xref: UMLS:C0001403 xref: UMLS:C0271737 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:101963 ! Acquired chronic primary adrenal insufficiency property_value: alternative:term "Autoimmune Addison's disease" xsd:string property_value: alternative:term "Autoimmune adrenalitis" xsd:string property_value: alternative:term "Classic Addison's disease" xsd:string property_value: alternative:term "Primary Addison's disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Addison disease (AD) is a chronic and rare endocrine disorder due to autoimmune destruction of the adrenal cortex and resulting in a glucocorticoid and mineralocorticoid deficiency. Properly speaking AD designates autoimmune adrenalitis, but it is a term commonly used to describe any form of chronic primary adrenal insufficiency (CPAI; see this term)." xsd:string [Term] id: Orphanet:85146 name: Scapuloperoneal amyotrophy xref: ICD10:G12.1 xref: OMIM:181400 xref: OMIM:181405 xref: OMIM:181430 xref: OMIM:300695 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: part_of Orphanet:209185 ! Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) relationship: part_of Orphanet:98505 ! Genetic motor neuron disease property_value: alternative:term "Kaeser syndrome" xsd:string property_value: alternative:term "Neurogenic scapuloperoneal syndrome" xsd:string property_value: alternative:term "Stark-Kaeser syndrome" xsd:string [Term] id: Orphanet:85162 name: Facial onset sensory and motor neuronopathy xref: ICD10:G60.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease property_value: alternative:term "FOSMN syndrome" xsd:string [Term] id: Orphanet:85163 name: Hypomyelination - congenital cataract xref: ICD10:G37.8 xref: OMIM:610532 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:68356 ! Leukodystrophy relationship: part_of Orphanet:98641 ! Syndromic cataract [Term] id: Orphanet:85164 name: Camptodactyly - tall stature - scoliosis - hearing loss xref: ICD10:Q87.2 xref: OMIM:610474 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93420 ! FGFR3-related chondrodysplasia relationship: part_of Orphanet:93454 ! Dysostosis with predominant vertebral and costal involvement property_value: alternative:term "CATSHL syndrome" xsd:string [Term] id: Orphanet:85165 name: Severe achondroplasia - developmental delay - acanthosis nigricans xref: ICD10:Q77.4 xref: OMIM:187600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:364536 ! Primary bone dysplasia with micromelia relationship: part_of Orphanet:79359 ! Other epidermis disorder relationship: part_of Orphanet:79360 ! Other genetic epidermal disease relationship: part_of Orphanet:93420 ! FGFR3-related chondrodysplasia property_value: alternative:term "SADDAN" xsd:string [Term] id: Orphanet:85166 name: Platyspondylic dysplasia, Torrance type xref: ICD10:Q77.8 xref: OMIM:151210 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93421 ! Type 2 collagen-related bone disorder relationship: part_of Orphanet:93434 ! Spondylodysplastic dysplasia property_value: alternative:term "Platyspondylic dysplasia, Torrance-Luton type" xsd:string property_value: alternative:term "Platyspondylic lethal skeletal dysplasia, Torrance type" xsd:string property_value: alternative:term "PLSD-T" xsd:string [Term] id: Orphanet:85167 name: Spondylometaphyseal dysplasia - cone-rod dystrophy xref: ICD10:H35.5 xref: ICD10:Q77.8 xref: OMIM:608940 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254 ! Spondylometaphyseal dysplasia property_value: alternative:term "SMD-CRD" xsd:string [Term] id: Orphanet:85168 name: Craniofacial conodysplasia xref: ICD10:Q87.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93436 ! Acromelic dysplasia [Term] id: Orphanet:85169 name: Familial digital arthropathy-brachydactyly xref: ICD10:M06.8 xref: OMIM:606835 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:364820 ! TRPV4-related bone disorder relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly [Term] id: Orphanet:85170 name: Mesomelic dysplasia, Savarirayan type xref: ICD10:Q78.8 xref: OMIM:605274 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93438 ! Mesomelic and rhizo-mesomelic dysplasia property_value: alternative:term "Mesomelic dysplasia with absent fibulas and triangular tibias" xsd:string property_value: alternative:term "Triangular tibia - fibular aplasia" xsd:string [Term] id: Orphanet:85172 name: Microcephalic osteodysplastic dysplasia, Saul-Wilson type xref: ICD10:Q78.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:324761 ! Microcephalic primordial dwarfism [Term] id: Orphanet:85173 name: IMAGe syndrome xref: ICD10:Q87.1 xref: OMIM:614732 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101960 ! Genetic chronic primary adrenal insufficiency relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:93440 ! Slender bone dysplasia property_value: alternative:term "Intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies" xsd:string [Term] id: Orphanet:85174 name: Pseudodiastrophic dysplasia xref: ICD10:Q78.8 xref: MESH:C535826 xref: OMIM:264180 xref: SNOMED CT:254058002 xref: UMLS:C0432206 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139030 ! Malformation syndrome with connective tissue involvement relationship: part_of Orphanet:93441 ! Primary bone dysplasia with multiple joint dislocations [Term] id: Orphanet:85175 name: Astley-Kendall dysplasia xref: ICD10:Q77.3 xref: SNOMED CT:389263004 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93442 ! Chondrodysplasia punctata [Term] id: Orphanet:85179 name: Infantile osteopetrosis with neuroaxonal dysplasia xref: ICD10:Q78.2 xref: OMIM:259720 xref: OMIM:600329 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2781 ! Osteopetrosis [Term] id: Orphanet:85182 name: Diaphyseal medullary stenosis - bone malignancy xref: ICD10:M89.8 xref: MESH:C536169 xref: OMIM:112250 xref: SNOMED CT:389216001 xref: UMLS:C1300202 xref: UMLS:C1862177 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:183527 ! Genetic bone tumor relationship: part_of Orphanet:68411 ! Rare bone tumor relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density property_value: alternative:term "Bone dysplasia - medullary fibrosarcoma" xsd:string property_value: alternative:term "Diaphyseal medullary stenosis - malignant fibrous histiocytoma" xsd:string property_value: alternative:term "Hardcastle syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma)." xsd:string [Term] id: Orphanet:85184 name: Craniometadiaphyseal dysplasia, wormian bone type xref: ICD10:Q78.8 xref: OMIM:615118 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density [Term] id: Orphanet:85186 name: Endosteal sclerosis - cerebellar hypoplasia xref: ICD10:Q87.8 xref: MESH:C535353 xref: OMIM:213002 xref: UMLS:C1859301 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:269523 ! Syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:269567 ! Genetic syndrome with a cerebellar malformation as major feature relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density [Term] id: Orphanet:85188 name: Metaphyseal dysplasia, Braun-Tinschert type xref: ICD10:Q78.5 xref: OMIM:605946 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density [Term] id: Orphanet:85191 name: Singleton-Merten dysplasia xref: ICD10:I99 xref: OMIM:182250 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93446 ! Primary bone dysplasia with decreased bone density property_value: alternative:term "Singleton-Merten syndrome" xsd:string [Term] id: Orphanet:85192 name: Calvarial doughnut lesions - bone fragility xref: ICD10:M85.8 xref: OMIM:126550 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93446 ! Primary bone dysplasia with decreased bone density property_value: alternative:term "Familial doughnut lesions of skull" xsd:string [Term] id: Orphanet:85193 name: Idiopathic juvenile osteoporosis xref: ICD10:M81.5 xref: OMIM:259750 xref: OMIM:615221 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93446 ! Primary bone dysplasia with decreased bone density property_value: alternative:term "IJO" xsd:string property_value: alternative:term "Juvenile osteoporosis" xsd:string [Term] id: Orphanet:85194 name: Spondylo-ocular syndrome xref: ICD10:Q87.5 xref: OMIM:605822 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:93446 ! Primary bone dysplasia with decreased bone density [Term] id: Orphanet:85195 name: Familial expansile osteolysis xref: ICD10:M89.5 xref: MESH:C536335 xref: OMIM:174810 xref: SNOMED CT:254153009 xref: UMLS:C0432292 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:93449 ! Primary osteolysis property_value: alternative:term "Hereditary expansile polyostotic osteolytic dysplasia" xsd:string property_value: alternative:term "McCabe's disease" xsd:string [Term] id: Orphanet:85196 name: Nodulosis-arthropathy-osteolysis syndrome xref: ICD10:M89.5 xref: OMIM:259600 xref: OMIM:277950 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:371428 ! Multicentric osteolysis-nodulosis-arthropathy spectrum property_value: alternative:term "Multicentric osteolysis - nodulosis - arthropathy" xsd:string property_value: alternative:term "NAO syndrome" xsd:string [Term] id: Orphanet:85197 name: Genochondromatosis type 1 xref: OMIM:137360 xref: SNOMED CT:389264005 xref: UMLS:C1300229 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components [Term] id: Orphanet:85198 name: Dysspondyloenchondromatosis is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components [Term] id: Orphanet:85199 name: Craniosynostosis - anal anomalies - porokeratosis xref: ICD10:Q87.8 xref: OMIM:603116 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:93451 ! Cleidocranial dysplasia and isolated cranial ossification defect property_value: alternative:term "CAP syndrome" xsd:string property_value: alternative:term "CDAGS syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S)." xsd:string [Term] id: Orphanet:852 name: X-linked thrombocytopenia with normal platelets xref: ICD10:D69.4 xref: OMIM:313900 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:268322 ! Hereditary thrombocytopenia with normal platelets [Term] id: Orphanet:85200 name: Ischio-vertebral syndrome is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: part_of Orphanet:93454 ! Dysostosis with predominant vertebral and costal involvement property_value: alternative:term "Ischio-spinal dysostosis" xsd:string property_value: alternative:term "Ischio-vertebral dysplasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism." xsd:string [Term] id: Orphanet:85201 name: Genitopatellar syndrome xref: ICD10:Q87.8 xref: OMIM:606170 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:93455 ! Patellar dysostosis property_value: alternative:term "Absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - intellectual deficit" xsd:string [Term] id: Orphanet:85202 name: Keutel syndrome xref: ICD10:Q87.8 xref: MESH:C536167 xref: OMIM:245150 xref: UMLS:C1855607 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: alternative:term "Pulmonic stenosis - brachytelephalangism - calcification of cartilages" xsd:string [Term] id: Orphanet:85203 name: Acro-pectoral syndrome xref: ICD10:Q74.0 xref: OMIM:605967 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "ACRP syndrome" xsd:string property_value: alternative:term "Syndactyly - preaxial polydactyly - sternal deformity" xsd:string [Term] id: Orphanet:85212 name: Fetal Gaucher disease xref: ICD10:E75.2 xref: OMIM:608013 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:281241 ! Autosomal ichthyosis syndrome with fatal disease course relationship: part_of Orphanet:355 ! Gaucher disease property_value: alternative:term "Perinatal lethal Gaucher disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term)." xsd:string [Term] id: Orphanet:85273 name: Intellectual deficit, X-linked, Abidi type xref: MESH:C535556 xref: OMIM:300262 xref: UMLS:C1846056 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85274 name: Syndromic X-linked intellectual deficit 7 xref: OMIM:300218 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "MRXS7" xsd:string property_value: alternative:term "X-linked intellectual deficit, Ahmad type" xsd:string [Term] id: Orphanet:85275 name: Microphthalmia - ankyloblepharon - intellectual deficit xref: ICD10:Q11.2 xref: OMIM:301590 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:202948 ! Syndromic microphthalmia relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "MCOPS4" xsd:string property_value: alternative:term "Syndromic microphthalmia type 4" xsd:string [Term] id: Orphanet:85276 name: Intellectual deficit, X-linked, Armfield type xref: OMIM:300261 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Armfield syndrome" xsd:string [Term] id: Orphanet:85277 name: Intellectual deficit, X-linked, Cantagrel type xref: OMIM:300912 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85278 name: Christianson syndrome xref: MESH:C537450 xref: OMIM:300243 xref: UMLS:C1846130 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:247765 ! X-linked cerebellar ataxia relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "X-linked Angelman-like syndrome" xsd:string property_value: alternative:term "X-linked intellectual deficit - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy" xsd:string property_value: alternative:term "X-linked intellectual deficit, South African type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures." xsd:string [Term] id: Orphanet:85279 name: Syndromic X-linked intellectual deficit due to JARID1C mutation xref: OMIM:300534 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:166472 ! Monogenic disease with epilepsy relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85280 name: Intellectual deficit, X-linked - cubitus valgus - dysmorphism xref: OMIM:300471 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85281 name: Intellectual deficit, X-linked, Lubs type is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_1762 with label: Trisomy Xq28" xsd:string [Term] id: Orphanet:85282 name: MEHMO syndrome xref: MESH:C537451 xref: OMIM:300148 xref: UMLS:C2931496 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:225700 ! Mitochondrial disease with epilepsy relationship: part_of Orphanet:225703 ! Mitochondrial disease with peripheral neuropathy relationship: part_of Orphanet:240371 ! Syndromic obesity relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "X-linked intellectual deficit - epileptic seizures - hypogenitalism - microcephaly - obesity" xsd:string [Term] id: Orphanet:85283 name: Intellectual deficit, X-linked, Miles-Carpenter type xref: MESH:C537472 xref: OMIM:309605 xref: UMLS:C1839735 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85284 name: BRESEK syndrome xref: ICD10:Q87.8 xref: OMIM:308205 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "BRESHECK syndrome" xsd:string [Term] id: Orphanet:85285 name: Intellectual deficit, X-linked, Schimke type xref: MESH:C536630 xref: OMIM:312840 xref: UMLS:C1839320 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85286 name: Intellectual deficit, X-linked, Shashi type xref: OMIM:300238 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Syndromic X-linked intellectual deficit type 11" xsd:string [Term] id: Orphanet:85287 name: Intellectual deficit, X-linked, Siderius type xref: MESH:C537333 xref: OMIM:300263 xref: UMLS:C1846055 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85288 name: Intellectual deficit, X-linked, Stocco Dos Santos type xref: OMIM:300434 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85289 name: Intellectual deficit, X-linked, Vitale type xref: OMIM:300360 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85290 name: Intellectual deficit, X-linked, Wilson type xref: OMIM:309545 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85291 name: Intellectual deficit, X-linked, Wittwer type xref: OMIM:300421 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Wittwer syndrome" xsd:string [Term] id: Orphanet:85292 name: X-linked spinocerebellar ataxia type 4 xref: ICD10:G11.1 xref: MESH:C537316 xref: OMIM:301840 xref: UMLS:C1844933 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:247765 ! X-linked cerebellar ataxia relationship: part_of Orphanet:89043 ! Rare dementia relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "SCAX4" xsd:string property_value: alternative:term "X-linked ataxia-dementia syndrome" xsd:string [Term] id: Orphanet:85293 name: Cabezas syndrome xref: OMIM:300354 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "X-linked intellectual deficit, Cabezas type" xsd:string [Term] id: Orphanet:85294 name: X-linked epilepsy - learning disabilities - behavior disorders xref: OMIM:300491 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:166472 ! Monogenic disease with epilepsy relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85295 name: X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome xref: OMIM:300220 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Syndromic X-linked intellectual disability type 10" xsd:string [Term] id: Orphanet:85297 name: X-linked spinocerebellar ataxia type 3 xref: ICD10:G11.1 xref: MESH:C537315 xref: OMIM:301790 xref: UMLS:C1844936 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:247765 ! X-linked cerebellar ataxia relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "SCAX3" xsd:string property_value: alternative:term "X-linked ataxia-deafness syndrome" xsd:string [Term] id: Orphanet:853 name: Fetal and neonatal alloimmune thrombocytopenia xref: ICD10:P61.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:248347 ! Rare hemorrhagic disorder due to an acquired platelet anomaly property_value: alternative:term "NAIT" xsd:string [Term] id: Orphanet:85317 name: Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85318 name: Intellectual deficit, X-linked - precocious puberty - obesity is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85319 name: Intellectual deficit, X-linked - epilepsy - progressive joint contractures - dysmorphism is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85320 name: Intellectual deficit, X-linked - macrocephaly - macro-orchidism is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Johnson syndrome" xsd:string [Term] id: Orphanet:85321 name: Deafness - intellectual deficit, Martin-Probst type xref: OMIM:300519 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Martin-Probst syndrome" xsd:string property_value: alternative:term "X-linked deafness - intellectual deficit syndrome" xsd:string [Term] id: Orphanet:85322 name: Intellectual deficit, X-linked, Pai type is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85323 name: Intellectual deficit, X-linked, Seemanova type is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85324 name: Intellectual deficit, X-linked, Shrimpton type xref: OMIM:300709 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "MRXS9" xsd:string [Term] id: Orphanet:85325 name: Intellectual deficit, X-linked, Stevenson type is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85326 name: X-linked intellectual deficit, Stoll type is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85327 name: Intellectual deficit, X-linked - acromegaly - hyperactivity is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85328 name: Intellectual deficit, X-linked, Turner type xref: OMIM:300706 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85329 name: Intellectual deficit, X-linked - hypotonia - facial dysmorphism - aggressive behavior is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85330 name: X-linked intellectual deficit - corpus callosum agenesis - spastic quadriparesis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:199639 ! Syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:269573 ! Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85331 name: Intellectual deficit, X-linked - hypogonadism - ichthyosis - obesity - short stature is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:281244 ! Autosomal ichthyosis syndrome with other associated signs relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85332 name: X-linked intellectual disability-retinitis pigmentosa syndrome xref: OMIM:300578 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:263731 ! Partial monosomy of the short arm of chromosome X relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Aldred syndrome" xsd:string property_value: alternative:term "Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)" xsd:string property_value: alternative:term "Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3" xsd:string property_value: alternative:term "Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion" xsd:string [Term] id: Orphanet:85333 name: Intellectual deficit, X-linked - Spastic paraplegia with iron deposits is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_702 with label: Pelizaeus-Merzbacher disease" xsd:string [Term] id: Orphanet:85334 name: X-linked neurodegenerative syndrome, Bertini type is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85335 name: Fried syndrome xref: OMIM:300630 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85336 name: X-linked neurodegenerative syndrome, Hamel type is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85337 name: Intellectual deficit, X-linked, Zorick type is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:85338 name: X-linked intellectual deficit - ataxia - apraxia is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:247765 ! X-linked cerebellar ataxia relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit [Term] id: Orphanet:854 name: Portal vein thrombosis xref: ICD10:I81 xref: MEDDRA:10036206 xref: SNOMED CT:17920008 xref: UMLS:C0155773 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:101938 ! Rare vascular liver disease property_value: alternative:term "Portal hypertension due to infrahepatic block" xsd:string [Term] id: Orphanet:85408 name: Juvenile rheumatoid factor-negative polyarthritis xref: ICD10:M08.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:280926 ! Systemic diseases with anterior uveitis relationship: part_of Orphanet:92 ! Juvenile idiopathic arthritis property_value: alternative:term "Polyarthritis without rheumatoid factor" xsd:string [Term] id: Orphanet:85410 name: Oligoarticular juvenile arthritis xref: ICD10:M08.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:280926 ! Systemic diseases with anterior uveitis relationship: part_of Orphanet:92 ! Juvenile idiopathic arthritis property_value: alternative:term "Pauciarticular chronic arthritis" xsd:string [Term] id: Orphanet:85414 name: Systemic-onset juvenile idiopathic arthritis xref: ICD10:M08.2 xref: OMIM:604302 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:92 ! Juvenile idiopathic arthritis property_value: alternative:term "Still disease" xsd:string property_value: alternative:term "Systemic polyarthritis" xsd:string [Term] id: Orphanet:85435 name: Juvenile rheumatoid factor-positive polyarthritis xref: ICD10:M08.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:92 ! Juvenile idiopathic arthritis property_value: alternative:term "Polyarthritis with rheumatoid factor" xsd:string [Term] id: Orphanet:85436 name: Juvenile psoriatic arthritis xref: ICD10:L40.5+ xref: ICD10:M09.0* xref: SNOMED CT:239802003 xref: UMLS:C0409672 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:92 ! Juvenile idiopathic arthritis [Term] id: Orphanet:85438 name: Enthesitis-related arthritis xref: ICD10:M08.1 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:280926 ! Systemic diseases with anterior uveitis relationship: part_of Orphanet:92 ! Juvenile idiopathic arthritis property_value: alternative:term "ERA" xsd:string property_value: alternative:term "Juvenile spondylarthropathy" xsd:string [Term] id: Orphanet:85442 name: Short stature - pituitary and cerebellar defects - small sella turcica xref: OMIM:262700 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:95495 ! Disease associated with nonacquired combined pituitary hormone deficiency [Term] id: Orphanet:85443 name: AL amyloidosis xref: ICD10:E85.8 xref: MEDDRA:10036673 xref: MESH:C531616 xref: OMIM:254500 xref: SNOMED CT:23132008 xref: UMLS:C0268381 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:209013 ! Acquired amyloid peripheral neuropathy relationship: part_of Orphanet:69 ! Amyloidosis relationship: part_of Orphanet:93551 ! Secondary glomerular disease relationship: part_of Orphanet:98282 ! Plasma cell tumor relationship: part_of Orphanet:99739 ! Familial hypertrophic cardiomyopathy property_value: alternative:term "Immunoglobulinic amyloidosis" xsd:string property_value: alternative:term "Light-chain amyloidosis" xsd:string property_value: alternative:term "Primary amyloidosis" xsd:string [Term] id: Orphanet:85445 name: Secondary amyloidosis xref: ICD10:E85.3 xref: MEDDRA:10039811 xref: SNOMED CT:274945004 xref: SNOMED CT:281034005 xref: UMLS:C0221014 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:209013 ! Acquired amyloid peripheral neuropathy relationship: part_of Orphanet:217720 ! Non-familial restrictive cardiomyopathy relationship: part_of Orphanet:69 ! Amyloidosis relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "Amyloidosis AA" xsd:string property_value: alternative:term "Inflammatory amyloidosis" xsd:string property_value: alternative:term "Reactive amyloidosis" xsd:string [Term] id: Orphanet:85446 name: Dialysis-related amyloidosis xref: ICD10:E85.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:69 ! Amyloidosis property_value: alternative:term "Beta2-microglobulinic amyloidosis" xsd:string property_value: alternative:term "Dialysis-related arthropathy" xsd:string [Term] id: Orphanet:85447 name: Familial amyloid polyneuropathy xref: ICD10:E85.1 xref: OMIM:105210 xref: SNOMED CT:42295001 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:207021 ! Rare hereditary systemic disease with peripheral neuropathy relationship: part_of Orphanet:271861 ! Familial transthyretin-related amyloidosis property_value: alternative:term "Transthyretin amyloid neuropathy" xsd:string property_value: alternative:term "Transthyretin amyloid polyneuropathy" xsd:string property_value: alternative:term "TTR amyloid neuropathy" xsd:string [Term] id: Orphanet:85448 name: Familial amyloidosis, Finnish type xref: ICD10:E85.1 xref: OMIM:105120 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:207021 ! Rare hereditary systemic disease with peripheral neuropathy relationship: part_of Orphanet:69 ! Amyloidosis relationship: part_of Orphanet:98628 ! Syndromic corneal dystrophy property_value: alternative:term "Familial amyloid polyneuropathy type 4" xsd:string property_value: alternative:term "Gelsolin amyloidosis" xsd:string property_value: alternative:term "Hereditary amyloidosis, Finnish type" xsd:string [Term] id: Orphanet:85450 name: Familial renal amyloidosis xref: ICD10:E85.0 xref: OMIM:105200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183586 ! Genetic glomerular disease relationship: part_of Orphanet:69 ! Amyloidosis relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "Amyloidosis, Ostertag type" xsd:string property_value: alternative:term "Familial amyloid nephropathy" xsd:string property_value: alternative:term "Hereditary amyloid nephropathy" xsd:string property_value: alternative:term "Hereditary renal amyloidosis" xsd:string [Term] id: Orphanet:85451 name: Transthyretin-related familial amyloid cardiomyopathy xref: ICD10:E85.0 xref: OMIM:105210 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:217635 ! Familial restrictive cardiomyopathy relationship: part_of Orphanet:271861 ! Familial transthyretin-related amyloidosis property_value: alternative:term "ATTR cardiomyopathy" xsd:string property_value: alternative:term "Transthyretin amyloid cardiopathy" xsd:string property_value: alternative:term "TTR-related amyloid cardiomyopathy" xsd:string property_value: alternative:term "TTR-related cardiac amyloidosis" xsd:string [Term] id: Orphanet:85453 name: X-linked reticulate pigmentary disorder with systemic manifestations xref: ICD10:E85.0+ xref: ICD10:L99.0* xref: OMIM:301220 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:182222 ! Rare systemic disease relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:271870 ! Rare genetic systemic or rheumatologic disease relationship: part_of Orphanet:98628 ! Syndromic corneal dystrophy property_value: alternative:term "Familial cutaneous amyloidosis" xsd:string property_value: alternative:term "Partington disease" xsd:string property_value: alternative:term "PDR" xsd:string property_value: alternative:term "X-linked cutaneous amyloidosis" xsd:string property_value: alternative:term "XLPDR" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature." xsd:string [Term] id: Orphanet:85458 name: Hereditary cerebral hemorrhage with amyloidosis xref: ICD10:E85.4+ xref: ICD10:I68.0* xref: OMIM:105150 xref: OMIM:605714 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183503 ! Genetic central nervous system and retinal vascular disease relationship: part_of Orphanet:371439 ! Genetic cerebrovascular dementia relationship: part_of Orphanet:69 ! Amyloidosis relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease relationship: part_of Orphanet:98549 ! Cerebrovascular dementia property_value: alternative:term "HCHWA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia." xsd:string [Term] id: Orphanet:857 name: Townes-Brocks syndrome xref: ICD10:Q87.8 xref: MESH:C536974 xref: OMIM:107480 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:156202 ! Otomandibular dysplasia associated with monogenic syndromes relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Imperforate anus with hand, foot and ear anomalies" xsd:string property_value: alternative:term "REAR syndrome" xsd:string property_value: alternative:term "Renal-ear-anal-radial syndrome" xsd:string property_value: alternative:term "Sensorineural deafness with imperforate anus and hypoplastic thumbs" xsd:string property_value: alternative:term "TBS" xsd:string property_value: alternative:term "Townes syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart." xsd:string [Term] id: Orphanet:858 name: Congenital toxoplasmosis xref: ICD10:P37.1 xref: MEDDRA:10010652 xref: MESH:D014125 xref: SNOMED CT:73893000 xref: UMLS:C0040560 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163588 ! Rare parasitic disease relationship: part_of Orphanet:166490 ! Infectious disease with epilepsy relationship: part_of Orphanet:232035 ! Infectious embryofetopathy property_value: alternative:term "Toxoplasma embryofetopathy" xsd:string property_value: alternative:term "Toxoplasma embryopathy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " (Tg)." xsd:string [Term] id: Orphanet:859 name: Transcobalamin deficiency xref: ICD10:D51.2 xref: OMIM:275350 xref: SNOMED CT:237934001 xref: UMLS:C0342701 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79171 ! Disorder of cobalamin metabolism and transport relationship: part_of Orphanet:98396 ! Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder property_value: alternative:term "Inherited deficiency of transcobalamin" xsd:string property_value: alternative:term "Transcobalamin II deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia." xsd:string [Term] id: Orphanet:86 name: Familial abdominal aortic aneurysm xref: ICD10:I71.4 xref: OMIM:100070 xref: OMIM:609782 xref: OMIM:611891 xref: OMIM:614375 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:233655 ! Rare genetic vascular disease relationship: part_of Orphanet:68362 ! Rare vascular disease [Term] id: Orphanet:860 name: Congenitally uncorrected transposition of the great arteries xref: ICD10:Q20.3 xref: OMIM:608808 xref: OMIM:613853 xref: OMIM:613854 is_a: Orphanet:216675 ! Transposition of the great arteries is_a: Orphanet:271853 ! Genetic cardiac anomaly property_value: alternative:term "Congenitally uncorrected transposition of the great vessels" xsd:string property_value: alternative:term "Isolated ventriculoarterial discordance" xsd:string property_value: alternative:term "Ventriculoarterial discordance with atrioventricular concordance" xsd:string [Term] id: Orphanet:861 name: Treacher-Collins syndrome xref: ICD10:Q75.4 xref: OMIM:154500 xref: OMIM:248390 xref: OMIM:613717 xref: SNOMED CT:82203000 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:138050 ! Pierre Robin syndrome associated with branchial archs anomalies relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:155899 ! Mandibulofacial dysostosis relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:93453 ! Dysostosis with predominant craniofacial involvement relationship: part_of Orphanet:98566 ! Syndromic palpebral coloboma relationship: part_of Orphanet:98576 ! Malposition of external canthus relationship: part_of Orphanet:98578 ! Ptosis relationship: part_of Orphanet:98600 ! Eyebrow/eyelashes distichiasis relationship: part_of Orphanet:98683 ! Syndrome with a symptomatic strabismus property_value: alternative:term "Franceschetti-Klein syndrome" xsd:string property_value: alternative:term "Mandibulofacial dysostosis without limb anomalies" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, associated with several head and neck defects." xsd:string [Term] id: Orphanet:863 name: Trichinellosis xref: ICD10:B75 xref: MEDDRA:10044608 xref: MESH:D014235 xref: SNOMED CT:88264003 xref: UMLS:C0040896 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:163588 ! Rare parasitic disease relationship: part_of Orphanet:206997 ! Parasitic myositis property_value: alternative:term "Trichinosis" xsd:string [Term] id: Orphanet:86309 name: DPAGT1-CDG xref: ICD10:E77.8 xref: OMIM:608093 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309347 ! Disorder of protein N-glycosylation relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type Ij" xsd:string property_value: alternative:term "CDG syndrome type Ij" xsd:string property_value: alternative:term "CDG-Ij" xsd:string property_value: alternative:term "CDG1J" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type 2j" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type Ij" xsd:string property_value: alternative:term "Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency" xsd:string [Term] id: Orphanet:864 name: Trichofolliculoma xref: MEDDRA:10044611 xref: MESH:C536553 xref: SNOMED CT:274899008 xref: SNOMED CT:33059009 xref: UMLS:C0334262 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair." xsd:string [Term] id: Orphanet:867 name: Familial multiple trichoepithelioma xref: ICD10:D23.3 xref: MESH:C536552 xref: OMIM:601606 xref: OMIM:612099 xref: SNOMED CT:403825008 xref: UMLS:C1275122 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79493 ! Brooke-Spiegler syndrome [Term] id: Orphanet:86788 name: X-linked severe congenital neutropenia xref: ICD10:D70 xref: OMIM:300299 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:42738 ! Severe congenital neutropenia [Term] id: Orphanet:86789 name: Patella aplasia/hypoplasia xref: ICD10:Q74.1 xref: OMIM:168860 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:109011 ! Nonsyndromic limb malformation relationship: part_of Orphanet:93455 ! Patellar dysostosis property_value: alternative:term "PTLAH" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date." xsd:string [Term] id: Orphanet:86795 name: Localized lichen myxedematosus xref: ICD10:L98.5 is_a: Orphanet:90077 ! Other acquired skin disease property_value: alternative:term "Papular mucinosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis." xsd:string [Term] id: Orphanet:86797 name: Atypical lichen myxedematosus xref: ICD10:L98.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:90077 ! Other acquired skin disease [Term] id: Orphanet:868 name: Triose phosphate-isomerase deficiency xref: ICD10:D55.2 xref: OMIM:615512 xref: SNOMED CT:234405009 xref: UMLS:C0398562 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:225696 ! Energy metabolism disorder with epilepsy relationship: part_of Orphanet:308459 ! Disorder of glycolysis relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:98372 ! Hemolytic anemia due to a disorder of glycolytic enzymes property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration." xsd:string [Term] id: Orphanet:86812 name: Autosomal recessive limb-girdle muscular dystrophy type 2K xref: ICD10:G71.0 xref: OMIM:609308 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102015 ! Autosomal recessive limb-girdle muscular dystrophy relationship: part_of Orphanet:209030 ! Qualitative or quantitative defects of protein O-mannosyltransferase 1 relationship: part_of Orphanet:309469 ! Disorder of O-mannosylglycan synthesis relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature property_value: alternative:term "LGMD2K" xsd:string property_value: alternative:term "Limb-girdle muscular dystrophy - intellectual deficit" xsd:string [Term] id: Orphanet:86813 name: Helicoid peripapillary chorioretinal degeneration xref: ICD10:H31.2 xref: OMIM:108985 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:71862 ! Retinal dystrophy property_value: alternative:term "Atrophia areata" xsd:string property_value: alternative:term "SCRA" xsd:string property_value: alternative:term "Sveinsson chorioretinal atrophy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease." xsd:string [Term] id: Orphanet:86814 name: Benign adult familial myoclonic epilepsy xref: ICD10:G40.3 xref: OMIM:601068 xref: OMIM:607876 xref: OMIM:613608 xref: OMIM:615127 xref: OMIM:615400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:306750 ! Primary myoclonus relationship: part_of Orphanet:98260 ! Adolescent-onset epilepsy syndrome property_value: alternative:term "ADCME" xsd:string property_value: alternative:term "Autosomal dominant cortical myoclonus and epilepsy" xsd:string property_value: alternative:term "BAFME" xsd:string property_value: alternative:term "FAME" xsd:string property_value: alternative:term "Familial adult myoclonic epilepsy" xsd:string property_value: alternative:term "Familial cortical myoclonic tremor and epilepsy" xsd:string property_value: alternative:term "FCMTE" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia." xsd:string [Term] id: Orphanet:86815 name: Aplasia of lacrimal and salivary glands xref: ICD10:Q10.4 xref: ICD10:Q38.4 xref: OMIM:180920 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98605 ! Excretory apparatus of the lacrimal system anomaly property_value: alternative:term "ALSG" xsd:string property_value: alternative:term "Congenital absence of lacrimal puncta and salivary glands" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation." xsd:string [Term] id: Orphanet:86816 name: Congenital analbuminemia xref: ICD10:R77.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:158300 ! Rare genetic hematologic disease relationship: part_of Orphanet:97992 ! Rare hematologic disease [Term] id: Orphanet:86817 name: Hemolytic anemia due to adenylate kinase deficiency xref: ICD10:D55.3 xref: OMIM:612631 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98374 ! Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder [Term] id: Orphanet:86818 name: Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis xref: ICD10:Q87.8 xref: OMIM:300194 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:182043 ! Rare constitutional hemolytic anemia relationship: part_of Orphanet:263756 ! Partial deletion of the long arm of chromosome X relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "AMME complex" xsd:string property_value: alternative:term "AMME syndrome" xsd:string property_value: alternative:term "ATS-MR" xsd:string [Term] id: Orphanet:86819 name: Atrichia with papular lesions xref: ICD10:L65.8 xref: OMIM:209500 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:79364 ! Alopecia property_value: alternative:term "Papular atrichia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities." xsd:string [Term] id: Orphanet:86820 name: Familial avascular necrosis of femoral head xref: ICD10:M87.8 xref: OMIM:608805 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2764 ! Osteochondritis dissecans relationship: part_of Orphanet:93421 ! Type 2 collagen-related bone disorder property_value: alternative:term "Familial osteonecrosis of the femoral head" xsd:string [Term] id: Orphanet:86821 name: Lissencephaly type 3 - familial fetal akinesia sequence xref: ICD10:Q04.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102011 ! Lissencephaly type 3 [Term] id: Orphanet:86822 name: Lissencephaly type 3 - metacarpal bone dysplasia xref: ICD10:Q04.3 xref: OMIM:601160 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102011 ! Lissencephaly type 3 [Term] id: Orphanet:86823 name: Lissencephaly with cerebellar hypoplasia xref: ICD10:Q04.3 is_a: Orphanet:48471 ! Lissencephaly property_value: alternative:term "LCH" xsd:string [Term] id: Orphanet:86829 name: Chronic neutrophilic leukemia xref: ICD10:C92.1 xref: MESH:D015467 xref: SNOMED CT:128834007 xref: SNOMED CT:188734009 xref: UMLS:C0023481 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:98274 ! Myeloproliferative neoplasm [Term] id: Orphanet:86830 name: Unclassified chronic myeloproliferative disease xref: ICD10:D47.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98274 ! Myeloproliferative neoplasm property_value: alternative:term "CMPD-U" xsd:string property_value: alternative:term "Undifferentiated myeloproliferative disease" xsd:string [Term] id: Orphanet:86834 name: Juvenile myelomonocytic leukemia xref: ICD10:C93.3 xref: MEDDRA:10023249 xref: MESH:D054429 xref: OMIM:607785 xref: SNOMED CT:128832006 xref: SNOMED CT:277587001 xref: SNOMED CT:445227008 xref: UMLS:C0349639 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:98275 ! Myelodysplastic/myeloproliferative disease property_value: alternative:term "Juvenile chronic myelomonocytic leukemia" xsd:string [Term] id: Orphanet:86836 name: Refractory cytopenia with multilineage dysplasia xref: ICD10:D46.7 xref: MEDDRA:10067959 xref: SNOMED CT:128836009 xref: SNOMED CT:415285009 xref: UMLS:C0796466 is_a: Orphanet:52688 ! Myelodysplastic syndromes relationship: Orphanet:C017 Orphanet:108944 ! Adulthood [Term] id: Orphanet:86839 name: Refractory anemia with excess blasts xref: ICD10:D46.2 xref: MEDDRA:10038270 xref: MESH:D000754 xref: SNOMED CT:128847002 xref: SNOMED CT:398623004 xref: UMLS:C0002894 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:52688 ! Myelodysplastic syndromes [Term] id: Orphanet:86841 name: Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality xref: ICD10:D46.7 xref: OMIM:153550 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:52688 ! Myelodysplastic syndromes property_value: alternative:term "5q- syndrome" xsd:string [Term] id: Orphanet:86843 name: Acute panmyelosis with myelofibrosis xref: ICD10:C94.5 xref: MEDDRA:10000879 xref: SNOMED CT:109991003 xref: SNOMED CT:80570006 xref: UMLS:C0334674 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:167714 ! Unclassified acute myeloid leukemia property_value: alternative:term "Acute myelodysplasia with myelofibrosis" xsd:string property_value: alternative:term "Acute myelofibrosis" xsd:string property_value: alternative:term "Acute myelosclerosis" xsd:string [Term] id: Orphanet:86845 name: Acute myeloid leukemia with multilineage dysplasia xref: ICD10:C92.0 xref: SNOMED CT:128827005 xref: UMLS:C1292773 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:519 ! Acute myeloid leukemia [Term] id: Orphanet:86846 name: Therapy related acute myeloid leukemia and myelodysplastic syndrome xref: ICD10:C92.0 xref: SNOMED CT:128830003 xref: UMLS:C1292776 is_a: Orphanet:519 ! Acute myeloid leukemia property_value: alternative:term "Secondary acute myeloid leukemia" xsd:string [Term] id: Orphanet:86849 name: Acute basophilic leukemia xref: ICD10:C94.7 xref: MESH:D015471 xref: SNOMED CT:69077002 xref: UMLS:C0023437 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:167714 ! Unclassified acute myeloid leukemia [Term] id: Orphanet:86850 name: Myeloid sarcoma xref: ICD10:C92.3 xref: MESH:D023981 xref: SNOMED CT:35287006 xref: SNOMED CT:94719007 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:167714 ! Unclassified acute myeloid leukemia property_value: alternative:term "Chloroma" xsd:string property_value: alternative:term "Extramedullary myeloid tumor" xsd:string property_value: alternative:term "Granulocytic sarcoma" xsd:string [Term] id: Orphanet:86851 name: Acute leukemia of ambiguous lineage xref: ICD10:C95.0 xref: MEDDRA:10067399 xref: MESH:D015456 xref: SNOMED CT:128818009 xref: SNOMED CT:278453007 xref: SNOMED CT:397345009 xref: UMLS:C0023464 xref: UMLS:C1301357 is_a: Orphanet:519 ! Acute myeloid leukemia relationship: Orphanet:C017 Orphanet:108945 ! Variable property_value: alternative:term "Acute leukemia of indeterminate lineage" xsd:string property_value: alternative:term "Hybrid acute leukemia" xsd:string property_value: alternative:term "Mixed lineage acute leukemia" xsd:string property_value: alternative:term "Mixed phenotype acute leukemia" xsd:string [Term] id: Orphanet:86852 name: B-cell prolymphocytic leukemia xref: ICD10:C91.3 xref: MESH:D054403 xref: SNOMED CT:128820007 xref: SNOMED CT:277619001 xref: UMLS:C0475801 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:300846 ! Aggressive B-cell non-Hodgkin lymphoma property_value: alternative:term "B-PLL" xsd:string [Term] id: Orphanet:86854 name: Splenic marginal zone lymphoma xref: ICD10:C83.0 xref: MEDDRA:10062113 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:300912 ! Marginal zone lymphoma property_value: alternative:term "SMZL" xsd:string [Term] id: Orphanet:86855 name: Plasmacytoma xref: ICD10:C90.2 xref: MEDDRA:10035484 xref: MESH:D010954 xref: SNOMED CT:10639003 xref: SNOMED CT:415112005 xref: UMLS:C0032131 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:209016 ! Hematological disease associated with an acquired peripheral neuropathy relationship: part_of Orphanet:98282 ! Plasma cell tumor property_value: alternative:term "Solitary plasmacytoma" xsd:string [Term] id: Orphanet:86861 name: Non-amyloid monoclonal immunoglobulin deposition disease xref: ICD10:D89.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:93551 ! Secondary glomerular disease relationship: part_of Orphanet:98282 ! Plasma cell tumor property_value: alternative:term "Non-amyloid MIDD" xsd:string property_value: alternative:term "Randall disease" xsd:string [Term] id: Orphanet:86864 name: Heavy chain disease xref: ICD10:C88.2 xref: ICD10:C88.3 xref: MEDDRA:10019350 xref: MESH:D006362 xref: SNOMED CT:6381009 xref: SNOMED CT:68979007 xref: UMLS:C0018852 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98282 ! Plasma cell tumor property_value: alternative:term "HCD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains." xsd:string [Term] id: Orphanet:86867 name: Nodal marginal zone B-cell lymphoma xref: ICD10:C83.0 xref: MEDDRA:10029460 xref: SNOMED CT:397349003 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:300912 ! Marginal zone lymphoma property_value: alternative:term "NMZL" xsd:string [Term] id: Orphanet:86869 name: Lymphomatoid granulomatosis xref: ICD10:C83.8 xref: MEDDRA:10025325 xref: MESH:D008230 xref: SNOMED CT:239940004 xref: UMLS:C0024307 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:289644 ! Epstein-Barr virus-associated malignant lymphoproliferative disorder relationship: part_of Orphanet:544 ! Diffuse large B-cell lymphoma property_value: alternative:term "LYG" xsd:string [Term] id: Orphanet:86870 name: CD4+/CD56+ hematodermic neoplasm xref: ICD10:C86.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:171918 ! T-cell non-Hodgkin lymphoma property_value: alternative:term "Blastic NK-cell lymphoma" xsd:string property_value: alternative:term "Blastic plasmacytoid dendritic cell neoplasm" xsd:string property_value: alternative:term "BPDCN" xsd:string property_value: alternative:term "Lymphoblastoid variant of NK-cell lymphoma" xsd:string property_value: alternative:term "Monomorphic NK-cell lymphoma" xsd:string [Term] id: Orphanet:86871 name: T-cell prolymphocytic leukemia xref: ICD10:C91.3 xref: MEDDRA:10042985 xref: MESH:D015461 xref: SNOMED CT:128821006 xref: SNOMED CT:277567002 xref: UMLS:C2363142 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:171918 ! T-cell non-Hodgkin lymphoma property_value: alternative:term "T-cell chronic lymphocytic leukemia" xsd:string property_value: alternative:term "T-PLL" xsd:string [Term] id: Orphanet:86872 name: T-cell large granular lymphocyte leukemia xref: ICD10:C91.5 xref: MEDDRA:10065862 xref: MESH:D054066 xref: SNOMED CT:128819001 xref: SNOMED CT:55081009 xref: UMLS:C1955861 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:171918 ! T-cell non-Hodgkin lymphoma relationship: part_of Orphanet:178996 ! Acquired neutropenia property_value: alternative:term "Proliferation of large granular lymphocytes" xsd:string property_value: alternative:term "T-cell LGL leukemia" xsd:string property_value: alternative:term "T-LGL" xsd:string [Term] id: Orphanet:86873 name: Aggressive NK-cell leukemia xref: ICD10:C91.7 xref: MEDDRA:10028811 xref: SNOMED CT:128833001 xref: UMLS:C1292777 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: part_of Orphanet:171918 ! T-cell non-Hodgkin lymphoma property_value: alternative:term "Aggressive NK-cell lymphoma" xsd:string property_value: alternative:term "ANKCL" xsd:string property_value: alternative:term "NK-cell large granular lymphocyte leukemia" xsd:string property_value: alternative:term "NK-cell LGL leukemia" xsd:string [Term] id: Orphanet:86875 name: Adult T-cell leukemia/lymphoma xref: ICD10:C91.5 xref: MEDDRA:10001413 xref: MESH:D015459 xref: SNOMED CT:110007008 xref: SNOMED CT:188729005 xref: SNOMED CT:77430005 xref: UMLS:C0023493 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:171918 ! T-cell non-Hodgkin lymphoma relationship: part_of Orphanet:178551 ! Aggressive primary cutaneous T-cell lymphoma property_value: alternative:term "ATLL" xsd:string [Term] id: Orphanet:86879 name: Extranodal nasal NK/T cell lymphoma xref: ICD10:C84.4 xref: MEDDRA:10065855 xref: MESH:D054391 xref: SNOMED CT:414166008 xref: UMLS:C0392788 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:171918 ! T-cell non-Hodgkin lymphoma relationship: part_of Orphanet:178551 ! Aggressive primary cutaneous T-cell lymphoma relationship: part_of Orphanet:289644 ! Epstein-Barr virus-associated malignant lymphoproliferative disorder property_value: alternative:term "Angiocentric T-cell lymphoma" xsd:string property_value: alternative:term "Lethal midline granuloma" xsd:string property_value: alternative:term "Nasal T/natural killer-cell lymphoma" xsd:string property_value: alternative:term "NK/T-cell lymphoma" xsd:string property_value: alternative:term "NKTCL" xsd:string [Term] id: Orphanet:86880 name: Enteropathy-associated T-cell lymphoma xref: ICD10:C84.4 xref: MEDDRA:10022703 xref: MESH:D058527 xref: SNOMED CT:103686008 xref: SNOMED CT:277654008 xref: UMLS:C0456889 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:104011 ! Intestinal tumor relationship: part_of Orphanet:171918 ! T-cell non-Hodgkin lymphoma property_value: alternative:term "EATL" xsd:string property_value: alternative:term "Enteropathy-type T-cell lymphoma" xsd:string property_value: alternative:term "ETTL" xsd:string property_value: alternative:term "Intestinal T-cell lymphoma" xsd:string [Term] id: Orphanet:86882 name: Hepatosplenic T-cell lymphoma xref: ICD10:C84.4 xref: MEDDRA:10066957 xref: SNOMED CT:445406001 xref: UMLS:C1333984 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:171918 ! T-cell non-Hodgkin lymphoma [Term] id: Orphanet:86884 name: Subcutaneous panniculitis-like T-cell lymphoma xref: ICD10:C84.4 xref: MESH:C537503 xref: SNOMED CT:103682005 xref: SNOMED CT:404133000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:178548 ! Indolent primary cutaneous T-cell lymphoma relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma property_value: alternative:term "SPTCL" xsd:string property_value: alternative:term "Subcutaneous panniculitic T-cell lymphoma" xsd:string [Term] id: Orphanet:86885 name: Primary cutaneous unspecified peripheral T-cell lymphoma xref: ICD10:C84.4 xref: MEDDRA:10034623 xref: MESH:D016411 xref: SNOMED CT:109977009 xref: SNOMED CT:3172003 xref: UMLS:C0079774 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:178551 ! Aggressive primary cutaneous T-cell lymphoma [Term] id: Orphanet:86886 name: Angioimmunoblastic T-cell lymphoma xref: ICD10:C84.4 xref: MEDDRA:10002449 xref: SNOMED CT:413537009 xref: SNOMED CT:835009 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:171918 ! T-cell non-Hodgkin lymphoma property_value: alternative:term "AILT" xsd:string property_value: alternative:term "Immunoblastic lymphadenopathy" xsd:string property_value: alternative:term "Lymphogranulomatosis X" xsd:string property_value: alternative:term "T-cell lymphoma, AILD type" xsd:string [Term] id: Orphanet:86893 name: Nodular lymphocyte predominant Hodgkin lymphoma xref: ICD10:C81.1 xref: SNOMED CT:118605002 xref: SNOMED CT:277608004 xref: SNOMED CT:70600005 xref: UMLS:C1334968 xref: UMLS:C2239290 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98293 ! Hodgkin lymphoma property_value: alternative:term "NLPHL" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) is a rare subtype of Hodgkin lymphoma (HL; see this term) characterized histologically by malignant lymphocyte predominant (LP) cells and the absence of typical Hodgkin and Reed-Sternberg (HRS) cells." xsd:string [Term] id: Orphanet:86896 name: Histiocytic sarcoma xref: ICD10:C96.8 xref: MESH:D054747 xref: SNOMED CT:109988003 xref: SNOMED CT:128813000 xref: UMLS:C0334663 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:98288 ! Macrophage or histiocytic tumor [Term] id: Orphanet:86897 name: Langerhans cell sarcoma xref: ICD10:C96.4 xref: MESH:D054752 xref: SNOMED CT:128814006 xref: UMLS:C1260327 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:98289 ! Dendritic cell tumor [Term] id: Orphanet:869 name: Triple A syndrome xref: ICD10:E27.4 xref: OMIM:231550 xref: OMIM:615510 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101960 ! Genetic chronic primary adrenal insufficiency relationship: part_of Orphanet:108961 ! Syndromic esophageal malformation relationship: part_of Orphanet:207015 ! Rare hereditary disease with peripheral neuropathy relationship: part_of Orphanet:371445 ! Genetic syndromic esophageal malformation relationship: part_of Orphanet:98604 ! Congenital alacrima property_value: alternative:term "2A syndrome" xsd:string property_value: alternative:term "3A syndrome" xsd:string property_value: alternative:term "4A syndrome" xsd:string property_value: alternative:term "AAA syndrome" xsd:string property_value: alternative:term "Achalasia - addisonianism - alacrima syndrome" xsd:string property_value: alternative:term "Adrenal insufficiency - achalasia - alacrima" xsd:string property_value: alternative:term "Allgrove syndrome" xsd:string property_value: alternative:term "Double A syndrome" xsd:string property_value: alternative:term "Quaternary A syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration." xsd:string [Term] id: Orphanet:86900 name: Interdigitating dendritic cell sarcoma xref: ICD10:C96.4 xref: MEDDRA:10038804 xref: MESH:D054739 xref: OMIM:267730 xref: SNOMED CT:128815007 xref: SNOMED CT:373168002 xref: UMLS:C0024302 xref: UMLS:C1260326 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:98289 ! Dendritic cell tumor property_value: alternative:term "Interdigitating cell sarcoma" xsd:string property_value: alternative:term "Reticulum cell sarcoma" xsd:string [Term] id: Orphanet:86902 name: Follicular dendritic cell sarcoma xref: ICD10:C96.4 xref: MESH:D054740 xref: SNOMED CT:128816008 xref: UMLS:C1260325 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:289656 ! Epstein-Barr Virus-associated mesenchymal tumor relationship: part_of Orphanet:98289 ! Dendritic cell tumor [Term] id: Orphanet:86903 name: Dendritic cell sarcoma not otherwise specified xref: ICD10:C96.4 xref: SNOMED CT:397355008 xref: UMLS:C1301364 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98289 ! Dendritic cell tumor [Term] id: Orphanet:86904 name: Methotrexate-associated lymphoproliferative disorders is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98290 ! Immunodeficiency-associated lymphoproliferative disease [Term] id: Orphanet:86906 name: Hypothalamic hamartomas with gelastic seizures xref: ICD10:G40.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:166478 ! Cerebral malformation with epilepsy [Term] id: Orphanet:86908 name: Idiopathic hemiconvulsion-hemiplegia syndrome xref: ICD10:G40.4 xref: SNOMED CT:230407006 xref: UMLS:C0549118 is_a: Orphanet:363567 ! Acute encephalopathy with inflammation-mediated status epilepticus relationship: part_of Orphanet:98258 ! Infantile epilepsy syndrome property_value: alternative:term "Hemiconvulsion-hemiplegia-epilepsy syndrome" xsd:string property_value: alternative:term "HHE syndrome" xsd:string property_value: alternative:term "IHHS" xsd:string [Term] id: Orphanet:86909 name: Myoclonic epilepsy of infancy xref: ICD10:G40.3 xref: SNOMED CT:192990004 xref: UMLS:C0751120 xref: UMLS:C0917800 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98258 ! Infantile epilepsy syndrome property_value: alternative:term "Benign myoclonic epilepsy of infancy" xsd:string [Term] id: Orphanet:86911 name: Epilepsy with myoclonic absences xref: ICD10:G40.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:306759 ! Non progressive epilepsy and/or ataxia with myoclonus as a major feature relationship: part_of Orphanet:98259 ! Childhood-onset epilepsy syndrome [Term] id: Orphanet:86913 name: Myoclonic epilepsy in non-progressive encephalopathies xref: ICD10:G40.4 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98258 ! Infantile epilepsy syndrome [Term] id: Orphanet:86914 name: Lymphedema - cerebral arteriovenous anomaly xref: OMIM:152900 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:89832 ! Syndromic lymphedema [Term] id: Orphanet:86915 name: Lymphedema - atrial septal defects - facial changes xref: ICD10:Q87.8 xref: OMIM:601927 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:89832 ! Syndromic lymphedema property_value: alternative:term "Irons-Bianchi syndrome" xsd:string [Term] id: Orphanet:86917 name: Lymphedema - cleft palate is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:89832 ! Syndromic lymphedema [Term] id: Orphanet:86918 name: Diffuse palmoplantar keratoderma-acrocyanosis syndrome xref: ICD10:Q82.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98352 ! Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature property_value: alternative:term "Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome" xsd:string [Term] id: Orphanet:86919 name: Keratosis palmaris et plantaris - clinodactyly xref: ICD10:Q82.8 xref: OMIM:148520 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98352 ! Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature property_value: alternative:term "Palmoplantar keratoderma - clinodactyly" xsd:string [Term] id: Orphanet:86920 name: Dermatopathia pigmentosa reticularis xref: ICD10:Q82.4 xref: MESH:C535374 xref: OMIM:125595 xref: SNOMED CT:239088003 xref: UMLS:C0406778 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin relationship: part_of Orphanet:98352 ! Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature [Term] id: Orphanet:86923 name: Hereditary palmoplantar keratoderma, Gamborg-Nielsen type xref: ICD10:Q82.8 xref: OMIM:244850 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98356 ! Autosomal recessive isolated diffuse palmoplantar keratoderma property_value: alternative:term "Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type" xsd:string property_value: alternative:term "PPK, Gamborg-Nielsen type" xsd:string [Term] id: Orphanet:87 name: Apert syndrome xref: ICD10:Q87.0 xref: MEDDRA:10002943 xref: MESH:D000168 xref: OMIM:101200 xref: SNOMED CT:205258009 xref: UMLS:C0001193 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:138055 ! Pierre Robin syndrome associated with bone disease relationship: part_of Orphanet:946 ! Acrocephalosyndactyly relationship: part_of Orphanet:98684 ! Craniostenosis associated with a strabismus property_value: alternative:term "Acrocephalosyndactyly type 1" xsd:string property_value: alternative:term "ACS1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of rare genetic syndromes, and is characterized by craniosynostosis, midface hypoplasia, and finger and toe syndactyly." xsd:string [Term] id: Orphanet:870 name: Down syndrome xref: ICD10:Q90 xref: MEDDRA:10044688 xref: MESH:D004314 xref: OMIM:190685 xref: SNOMED CT:41040004 xref: UMLS:C0013080 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:108969 ! Syndromic intestinal malformation relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations relationship: part_of Orphanet:166469 ! Chromosomal anomaly with epilepsy as a major feature relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:98131 ! Total autosomal trisomy relationship: part_of Orphanet:98571 ! Secondary ectropion relationship: part_of Orphanet:98574 ! Syndromic epicanthus relationship: part_of Orphanet:98576 ! Malposition of external canthus relationship: part_of Orphanet:98623 ! Syndromic keratoconus relationship: part_of Orphanet:98642 ! Chromosomal anomaly with cataract relationship: part_of Orphanet:98683 ! Syndrome with a symptomatic strabismus property_value: alternative:term "Trisomy 21" xsd:string [Term] id: Orphanet:871 name: Familial progressive cardiac conduction defect xref: ICD10:I45.8 xref: OMIM:113900 xref: OMIM:115080 xref: OMIM:140400 xref: OMIM:604559 xref: OMIM:612838 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101934 ! Genetic cardiac rhythm disease property_value: alternative:term "Familial Lenègre disease" xsd:string property_value: alternative:term "Familial Lev disease" xsd:string property_value: alternative:term "Familial Lev-Lenègre disease" xsd:string property_value: alternative:term "Familial PCCD" xsd:string property_value: alternative:term "Familial progressive heart block" xsd:string property_value: alternative:term "Hereditary bundle branch defect" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial progressive cardiac conduction defect (PCCD) is a cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death." xsd:string [Term] id: Orphanet:87277 name: Rare intellectual deficit is_a: Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:873 name: Desmoid tumor xref: ICD10:D48.1 xref: OMIM:135290 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:71209 ! Rare soft tissue tumor property_value: alternative:term "Aggressive fibromatosis" xsd:string property_value: alternative:term "Desmoid type fibromatosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential." xsd:string [Term] id: Orphanet:874 name: Adult heart tumor xref: ICD10:C38.0 xref: ICD10:D15.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:168194 ! Rare cardiac tumor property_value: alternative:term "Adult cardiac tumor" xsd:string [Term] id: Orphanet:875 name: Heart tumor of the child xref: ICD10:C38.0 xref: ICD10:D15.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:168194 ! Rare cardiac tumor property_value: alternative:term "Cardiac tumor of the child" xsd:string [Term] id: Orphanet:87503 name: Mal de Meleda xref: ICD10:Q82.8 xref: OMIM:248300 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:98356 ! Autosomal recessive isolated diffuse palmoplantar keratoderma property_value: alternative:term "Keratosis palmoplantaris transgrediens of Siemens" xsd:string property_value: alternative:term "Meleda disease" xsd:string property_value: alternative:term "Transgrediens palmoplantar keratoderma of Siemens" xsd:string [Term] id: Orphanet:876 name: Yolk sac tumor xref: MEDDRA:10048251 xref: OMIM:273300 xref: SNOMED CT:404081005 xref: UMLS:C0014145 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:99913 ! Extragonadal non-dysgerminomatous germ cell tumor property_value: alternative:term "Endodermal sinus tumor" xsd:string [Term] id: Orphanet:877 name: Endocrine tumor is_a: Orphanet:182130 ! Tumor of endocrine glands is_a: Orphanet:97978 ! Rare endocrine disease property_value: alternative:term "APUDoma" xsd:string property_value: alternative:term "Carcinoid tumor" xsd:string property_value: alternative:term "Neuroendocrine tumor" xsd:string [Term] id: Orphanet:87876 name: Sialidosis type 2 xref: ICD10:E77.1 xref: OMIM:256150 xref: OMIM:256550 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:139009 ! Developmental anomaly of metabolic origin relationship: part_of Orphanet:182073 ! Syndromic neurometabolic disease with non-X-linked intellectual deficit relationship: part_of Orphanet:309294 ! Sialidosis relationship: part_of Orphanet:93448 ! Lysosomal storage disease with skeletal involvement relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease property_value: alternative:term "Infantile dysmorphic sialidosis" xsd:string [Term] id: Orphanet:87884 name: Nonsyndromic genetic deafness xref: ICD10:H90.5 is_a: Orphanet:96210 ! Rare genetic deafness property_value: alternative:term "Isolated genetic deafness" xsd:string [Term] id: Orphanet:879 name: Tungiasis xref: ICD10:B88.1 xref: MESH:D058285 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163588 ! Rare parasitic disease [Term] id: Orphanet:88 name: Idiopathic aplastic anemia xref: ICD10:D61.0 xref: MESH:C538494 xref: OMIM:609135 xref: OMIM:614742 xref: OMIM:614743 xref: SNOMED CT:191256002 xref: UMLS:C0348890 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:164823 ! Rare acquired medullar aplasia property_value: alternative:term "Bone marrow failure" xsd:string [Term] id: Orphanet:881 name: Turner syndrome xref: ICD10:Q96 xref: MEDDRA:10045181 xref: MESH:D014424 xref: SNOMED CT:38804009 xref: UMLS:C0041408 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:263717 ! X chromosome number anomaly with female phenotype relationship: part_of Orphanet:325546 ! Sex chromosome disorder of sex development relationship: part_of Orphanet:325638 ! Syndrome with disorder of sex development of gynecological interest relationship: part_of Orphanet:90692 ! Rare endocrine growth disease relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:95710 ! Non-acquired premature ovarian failure relationship: part_of Orphanet:98049 ! Rare female infertility relationship: part_of Orphanet:98574 ! Syndromic epicanthus relationship: part_of Orphanet:98642 ! Chromosomal anomaly with cataract property_value: alternative:term "45,X syndrome" xsd:string property_value: alternative:term "45,X/46,XX syndrome" xsd:string property_value: alternative:term "Monosomy X" xsd:string [Term] id: Orphanet:882 name: Tyrosinemia type 1 xref: ICD10:E70.2 xref: OMIM:276700 xref: SNOMED CT:410056006 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:284818 ! Disorder of tyrosine metabolism relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease property_value: alternative:term "FAH deficiency" xsd:string property_value: alternative:term "Fumaryl acetoacetase deficiency" xsd:string property_value: alternative:term "Fumaryl acetoacetate hydrolase deficiency" xsd:string property_value: alternative:term "Hepatorenal tyrosinemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Tyrosinemia type 1 (HTI) is a treatable, but potentially fatal, hereditary error of amino acid metabolism characterized by liver disease and secondary renal tubular dysfunction leading to hypophosphatemic rickets. All patients have an increased risk of hepatocellular carcinoma and may also manifest peripheral neurological crises" xsd:string [Term] id: Orphanet:883 name: Teratoma xref: ICD10:C56 xref: ICD10:C62 xref: ICD10:D44.5 xref: MEDDRA:10043276 xref: MESH:D013724 xref: SNOMED CT:55818009 xref: UMLS:C0039538 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:99913 ! Extragonadal non-dysgerminomatous germ cell tumor [Term] id: Orphanet:884 name: Tetrasomy 12p xref: ICD10:Q99.8 xref: OMIM:601803 xref: SNOMED CT:9527009 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108979 ! Syndromic diaphragmatic or abdominal wall malformation relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:166469 ! Chromosomal anomaly with epilepsy as a major feature relationship: part_of Orphanet:180779 ! Syndromic diaphragmatic or thoracic malformation relationship: part_of Orphanet:262658 ! Partial trisomy/tetrasomy of the short arm of chromosome 12 relationship: part_of Orphanet:93461 ! Chromosomal disease with overgrowth property_value: alternative:term "Isochromosome 12p mosaicism" xsd:string property_value: alternative:term "Isochromosome 12p syndrome" xsd:string property_value: alternative:term "Pallister-Killian syndrome" xsd:string [Term] id: Orphanet:886 name: Usher syndrome xref: ICD10:H35.5 xref: MEDDRA:10063396 xref: MESH:D052245 xref: OMIM:276900 xref: OMIM:276901 xref: OMIM:276902 xref: OMIM:276904 xref: OMIM:500004 xref: OMIM:601067 xref: OMIM:602083 xref: OMIM:602097 xref: OMIM:605472 xref: OMIM:606943 xref: OMIM:611383 xref: OMIM:612632 xref: OMIM:614504 xref: OMIM:614869 xref: OMIM:614990 xref: SNOMED CT:57838006 xref: UMLS:C0271097 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98661 ! Syndromic retinitis pigmentosa property_value: alternative:term "Retinitis pigmentosa - deafness" xsd:string property_value: alternative:term "USH" xsd:string [Term] id: Orphanet:88616 name: Autosomal recessive nonsyndromic intellectual deficit xref: OMIM:249500 xref: OMIM:607417 xref: OMIM:608443 xref: OMIM:611090 xref: OMIM:611091 xref: OMIM:611092 xref: OMIM:611093 xref: OMIM:611094 xref: OMIM:611095 xref: OMIM:611096 xref: OMIM:611097 xref: OMIM:611107 xref: OMIM:613192 xref: OMIM:614020 xref: OMIM:614202 xref: OMIM:614208 xref: OMIM:614249 xref: OMIM:614329 xref: OMIM:614333 xref: OMIM:614339 xref: OMIM:614340 xref: OMIM:614341 xref: OMIM:614342 xref: OMIM:614343 xref: OMIM:614344 xref: OMIM:614345 xref: OMIM:614346 xref: OMIM:614347 xref: OMIM:614499 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:101685 ! Rare intellectual deficit without developmental anomaly property_value: alternative:term "NS-ARID" xsd:string [Term] id: Orphanet:88618 name: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency xref: ICD10:E72.1 xref: OMIM:613752 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:79173 ! Disorder of methionine cycle and sulfur amino acid metabolism property_value: alternative:term "Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency" xsd:string [Term] id: Orphanet:88619 name: Familial acute necrotizing encephalopathy xref: OMIM:608033 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:71859 ! Rare genetic neurological disease relationship: part_of Orphanet:98006 ! Rare neurologic disease property_value: alternative:term "ADANE" xsd:string property_value: alternative:term "Recurrent acute necrotizing encephalopathy" xsd:string [Term] id: Orphanet:88620 name: Isolated congenital anosmia xref: OMIM:107200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98036 ! Rare otorhinolaryngologic disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome (see this term)." xsd:string [Term] id: Orphanet:88621 name: Ichthyosis prematurity syndrome xref: MESH:C536271 xref: OMIM:608649 xref: UMLS:C1837610 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:281244 ! Autosomal ichthyosis syndrome with other associated signs property_value: alternative:term "Congenital ichthyosis type 4" xsd:string property_value: alternative:term "IPS" xsd:string [Term] id: Orphanet:88628 name: Posterior column ataxia - retinitis pigmentosa xref: ICD10:G11.1 xref: ICD10:H35.5 xref: MESH:C536343 xref: OMIM:609033 xref: UMLS:C1836916 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98098 ! Autosomal recessive degenerative and progressive cerebellar ataxia property_value: alternative:term "Autosomal recessive posterior column ataxia and retinitis pigmentosa" xsd:string property_value: alternative:term "PCARP" xsd:string [Term] id: Orphanet:88629 name: Tritanopia xref: ICD10:H53.5 xref: OMIM:190900 xref: SNOMED CT:85049009 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98658 ! Color-vision disease property_value: alternative:term "Blue colour blindness" xsd:string property_value: alternative:term "Congenital tritanopia" xsd:string property_value: alternative:term "Tritan colour blindness" xsd:string [Term] id: Orphanet:88630 name: Terminal osseous dysplasia - pigmentary defects xref: ICD10:Q87.2 xref: OMIM:300244 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin relationship: part_of Orphanet:93425 ! Filamin-related bone disorder relationship: part_of Orphanet:93436 ! Acromelic dysplasia [Term] id: Orphanet:88632 name: Familial ocular anterior segment mesenchymal dysgenesis xref: ICD10:Q13.8 xref: OMIM:107250 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: part_of Orphanet:98558 ! Rare eye disease due to a differentiation anomaly [Term] id: Orphanet:88633 name: Superior limbic keratoconjunctivitis xref: ICD10:H16.2 xref: SNOMED CT:231903005 xref: UMLS:C0339229 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:182214 ! Rare inflammatory eye disease property_value: alternative:term "SLK" xsd:string property_value: alternative:term "Theodore's superior limbic keratoconjunctivitis" xsd:string property_value: alternative:term "Theodore's syndrome" xsd:string [Term] id: Orphanet:88635 name: Myopathy due to calsequestrin and SERCA1 protein overload xref: ICD10:G71.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206634 ! Genetic skeletal muscle disease relationship: part_of Orphanet:209199 ! Qualitative or quantitative defects of protein SERCA1 [Term] id: Orphanet:88636 name: Aortic dilatation - joint hypermobility - arterial tortuosity is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:233655 ! Rare genetic vascular disease relationship: part_of Orphanet:284993 ! Marfan and Marfan-related disorder relationship: part_of Orphanet:285014 ! Rare disease with thoracic aortic aneurysm and aortic dissection relationship: part_of Orphanet:68362 ! Rare vascular disease [Term] id: Orphanet:88637 name: Hypomyelination - hypogonadotropic hypogonadism - hypodontia xref: ICD10:E23.0 xref: ICD10:E75.2 xref: ICD10:K00.0 xref: OMIM:607694 xref: OMIM:614381 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181387 ! Syndrome with hypogonadotropic hypogonadism relationship: part_of Orphanet:289494 ! Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism property_value: alternative:term "4H syndrome" xsd:string [Term] id: Orphanet:88639 name: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency xref: ICD10:E71.1 xref: OMIM:250620 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79163 ! Classic organic aciduria property_value: alternative:term "Methacrylic aciduria" xsd:string [Term] id: Orphanet:88642 name: Channelopathy-associated congenital insensitivity to pain xref: ICD10:G60.8 xref: MESH:D000699 xref: MESH:D009477 xref: OMIM:243000 xref: SNOMED CT:128206006 xref: SNOMED CT:403605007 xref: UMLS:C0002768 xref: UMLS:C0020075 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:140477 ! Autosomal recessive hereditary sensory and autonomic neuropathy [Term] id: Orphanet:88643 name: Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:177107 ! Syndromic hypothyroidism [Term] id: Orphanet:88644 name: Autosomal recessive ataxia, Beauce type xref: ICD10:G11.2 xref: OMIM:610743 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:1172 ! Autosomal recessive cerebellar ataxia property_value: alternative:term "ARCA1" xsd:string property_value: alternative:term "Autosomal recessive cerebellar ataxia type 1" xsd:string property_value: alternative:term "SCAR8" xsd:string [Term] id: Orphanet:88659 name: Autosomal dominant progressive nephropathy with hypertension xref: ICD10:I15.1 xref: OMIM:161900 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:156629 ! Genetic hypertension [Term] id: Orphanet:88660 name: Pseudohyperaldosteronism type 2 xref: ICD10:I15.1 xref: OMIM:605115 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:156629 ! Genetic hypertension relationship: part_of Orphanet:163637 ! Rare disorder related with pregnancy, childbirth and puerperium property_value: alternative:term "Early-onset hypertension with exacerbation in pregnancy" xsd:string property_value: alternative:term "Hypertension due to gain-of-function mutations in the mineralocorticoid receptor" xsd:string [Term] id: Orphanet:88661 name: Amelogenesis imperfecta xref: ICD10:K00.5 xref: MESH:D000567 xref: OMIM:104500 xref: OMIM:104510 xref: OMIM:104530 xref: OMIM:130900 xref: OMIM:204650 xref: OMIM:204700 xref: OMIM:301200 xref: OMIM:301201 xref: OMIM:612529 xref: OMIM:613211 xref: OMIM:614832 xref: SNOMED CT:78494001 xref: UMLS:C0002452 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:164001 ! Rare odontal or periodontal disorder [Term] id: Orphanet:88673 name: Hepatocellular carcinoma xref: ICD10:C22.0 xref: MEDDRA:10049010 xref: MESH:D006528 xref: OMIM:114550 xref: SNOMED CT:25370001 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:306636 ! Rare hepatic tumor property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hepatocellular carcinoma is a primary hepatic cancer derived from well-differentiated hepatocytes. It is more frequent in adults than in childhood. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure." xsd:string [Term] id: Orphanet:887 name: VACTERL/VATER association xref: ICD10:Q87.2 xref: MEDDRA:10053665 xref: MEDDRA:10066022 xref: MESH:C536495 xref: MESH:C536534 xref: OMIM:192350 xref: SNOMED CT:27742002 xref: UMLS:C0220708 xref: UMLS:C1735591 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108961 ! Syndromic esophageal malformation relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "VACTERL association" xsd:string property_value: alternative:term "VATER association" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities." xsd:string [Term] id: Orphanet:888 name: Van der Woude syndrome xref: ICD10:Q38.0 xref: MESH:C536528 xref: OMIM:119300 xref: OMIM:604547 xref: OMIM:606713 xref: SNOMED CT:79261008 xref: UMLS:C0175697 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Cleft lip and/or palate with mucous cysts of lower lip" xsd:string property_value: alternative:term "Lip-pit syndrome" xsd:string property_value: alternative:term "VWS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate." xsd:string [Term] id: Orphanet:889 name: Cutaneous leukocytoclastic angiitis xref: ICD10:M31.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:156149 ! Immune complex mediated vasculitis property_value: alternative:term "Cutaneous hypersensitivity vasculitis" xsd:string property_value: alternative:term "Cutaneous small vessel vasculitis" xsd:string [Term] id: Orphanet:88917 name: X-linked Alport syndrome xref: ICD10:Q87.8 xref: OMIM:301050 xref: UMLS:C1567742 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:63 ! Alport syndrome [Term] id: Orphanet:88918 name: Autosomal dominant Alport syndrome xref: ICD10:Q87.8 xref: MESH:C536586 xref: OMIM:104200 xref: UMLS:C1567743 xref: UMLS:C2931253 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:63 ! Alport syndrome [Term] id: Orphanet:88919 name: Autosomal recessive Alport syndrome xref: ICD10:Q87.8 xref: OMIM:203780 xref: UMLS:C1567744 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:63 ! Alport syndrome [Term] id: Orphanet:88924 name: Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis xref: OMIM:600273 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:261956 ! Partial deletion of the short arm of chromosome 16 relationship: part_of Orphanet:93587 ! Familial cystic renal disease property_value: alternative:term "Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome" xsd:string [Term] id: Orphanet:88938 name: Pseudohypoaldosteronism type 2A xref: ICD10:I15.1 xref: OMIM:145260 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: part_of Orphanet:757 ! Pseudohypoaldosteronism type 2 property_value: alternative:term "PHA2A" xsd:string [Term] id: Orphanet:88939 name: Pseudohypoaldosteronism type 2B xref: ICD10:I15.1 xref: OMIM:614491 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: part_of Orphanet:757 ! Pseudohypoaldosteronism type 2 property_value: alternative:term "PHA2B" xsd:string [Term] id: Orphanet:88940 name: Pseudohypoaldosteronism type 2C xref: ICD10:I15.1 xref: OMIM:614492 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: part_of Orphanet:757 ! Pseudohypoaldosteronism type 2 property_value: alternative:term "PHA2C" xsd:string [Term] id: Orphanet:88949 name: Autosomal dominant medullary cystic kidney disease without hyperuricemia xref: ICD10:Q61.5 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:34149 ! Autosomal dominant medullary cystic kidney disease with or without hyperuricemia [Term] id: Orphanet:88950 name: Autosomal dominant medullary cystic kidney disease with hyperuricemia xref: ICD10:Q61.5 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:34149 ! Autosomal dominant medullary cystic kidney disease with or without hyperuricemia [Term] id: Orphanet:88991 name: Congenital heart malformation is_a: Orphanet:97965 ! Rare surgical cardiac disease [Term] id: Orphanet:88993 name: Esophageal malformation is_a: Orphanet:183545 ! Genetic digestive tract malformation is_a: Orphanet:98039 ! Digestive tract malformation [Term] id: Orphanet:890 name: Hepatic veno-occlusive disease xref: ICD10:K76.5 xref: MEDDRA:10047216 xref: MESH:D006504 xref: SNOMED CT:65617004 xref: UMLS:C0019156 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:101938 ! Rare vascular liver disease property_value: alternative:term "Sinusoidal obstruction syndrome" xsd:string [Term] id: Orphanet:89043 name: Rare dementia is_a: Orphanet:98033 ! Rare neurologic disease with psychiatric involvement [Term] id: Orphanet:891 name: Familial exudative vitreoretinopathy xref: ICD10:H35.0 xref: MESH:C536382 xref: OMIM:133780 xref: OMIM:305390 xref: OMIM:601813 xref: OMIM:605750 xref: OMIM:613310 xref: SNOMED CT:232063007 xref: UMLS:C0339539 xref: UMLS:C1851402 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183503 ! Genetic central nervous system and retinal vascular disease relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease relationship: part_of Orphanet:98670 ! Vitreoretinal degeneration property_value: alternative:term "Criswick-Schepens syndrome" xsd:string property_value: alternative:term "FEVR" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness." xsd:string [Term] id: Orphanet:892 name: Von Hippel-Lindau disease xref: ICD10:Q85.8 xref: MEDDRA:10047716 xref: MESH:D006623 xref: OMIM:193300 xref: SNOMED CT:46659004 xref: UMLS:C0019562 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:100094 ! Multiple polyglandular tumor relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:183503 ! Genetic central nervous system and retinal vascular disease relationship: part_of Orphanet:252190 ! Inherited nervous system cancer-predisposing syndrome relationship: part_of Orphanet:319328 ! Inherited renal cell cancer-predisposing syndrome relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease relationship: part_of Orphanet:717 ! Catecholamine-producing tumor relationship: part_of Orphanet:93587 ! Familial cystic renal disease relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature property_value: alternative:term "Familial cerebelloretinal angiomatosis" xsd:string property_value: alternative:term "Hippel-Lindau disease" xsd:string property_value: alternative:term "Lindau disease" xsd:string property_value: alternative:term "VHL" xsd:string property_value: alternative:term "Von Hippel-Lindau syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma." xsd:string [Term] id: Orphanet:893 name: WAGR syndrome xref: ICD10:Q87.8 xref: MESH:C538295 xref: MESH:D017624 xref: OMIM:194072 xref: OMIM:612469 xref: UMLS:C0206115 xref: UMLS:C2931803 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:183595 ! Genetic renal tumor relationship: part_of Orphanet:240371 ! Syndromic obesity relationship: part_of Orphanet:261947 ! Partial deletion of the short arm of chromosome 11 relationship: part_of Orphanet:325638 ! Syndrome with disorder of sex development of gynecological interest relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation relationship: part_of Orphanet:98087 ! Syndrome with 46,XY disorder of sex development relationship: part_of Orphanet:98557 ! Syndromic aniridia relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature relationship: part_of Orphanet:98641 ! Syndromic cataract property_value: alternative:term "Deletion 11p13" xsd:string property_value: alternative:term "Monosomy 11p13" xsd:string property_value: alternative:term "Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit" xsd:string [Term] id: Orphanet:894 name: Waardenburg syndrome type 1 xref: ICD10:E70.3 xref: OMIM:193500 xref: UMLS:C1847800 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:3440 ! Waardenburg syndrome property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital of deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum." xsd:string [Term] id: Orphanet:895 name: Waardenburg syndrome type 2 xref: ICD10:E70.3 xref: MESH:C536463 xref: OMIM:193510 xref: OMIM:600193 xref: OMIM:606662 xref: OMIM:608890 xref: OMIM:611584 xref: UMLS:C2700265 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:3440 ! Waardenburg syndrome property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Waardenburg syndrome (WS2) is an autosomal dominant disorder characterized by varying degrees of deafness, minor defects in structures arising from neural crest and pigmentation anomalies of eyes, hair, and skin, but without dystopia cantorum" xsd:string [Term] id: Orphanet:896 name: Waardenburg syndrome type 3 xref: ICD10:E70.3 xref: OMIM:148820 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:3440 ! Waardenburg syndrome property_value: alternative:term "Klein-Waardenburg syndrome" xsd:string property_value: alternative:term "Waardenburg syndrome with limb anomalies" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin" xsd:string [Term] id: Orphanet:897 name: Waardenburg-Shah syndrome xref: ICD10:Q87.8 xref: OMIM:277580 xref: OMIM:613265 xref: OMIM:613266 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:104009 ! Congenital intestinal motility disorder relationship: part_of Orphanet:108969 ! Syndromic intestinal malformation relationship: part_of Orphanet:183469 ! Genetic hypopigmentation of the skin relationship: part_of Orphanet:79376 ! Hypopigmentation of the skin relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98708 ! Pigmentation disorder with eye involvement, excluding albinism property_value: alternative:term "Shah-Waardenburg syndrome" xsd:string property_value: alternative:term "Waardenburg syndrome type 4" xsd:string property_value: alternative:term "Waardenburg-Hirschsprung syndrome" xsd:string property_value: alternative:term "WS4" xsd:string [Term] id: Orphanet:898 name: Wagner disease xref: ICD10:H35.5 xref: MEDDRA:10063383 xref: MESH:C536075 xref: OMIM:143200 xref: SNOMED CT:232064001 xref: UMLS:C0339540 xref: UMLS:C1840452 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98620 ! Syndromic myopia relationship: part_of Orphanet:98670 ! Vitreoretinal degeneration property_value: alternative:term "Dominant hyaloideoretinal dystrophy of Wagner" xsd:string property_value: alternative:term "VCAN-related vitreoretinopathy" xsd:string property_value: alternative:term "Vitreoretinal degeneration, Wagner type" xsd:string property_value: alternative:term "Wagner syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." xsd:string [Term] id: Orphanet:89826 name: Rare skin disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:89832 name: Syndromic lymphedema is_a: Orphanet:79383 ! Lymphedema [Term] id: Orphanet:89833 name: Palmoplantar keratoderma with tonotubular keratin is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_2199 with label: Epidermolytic palmoplantar keratoderma" xsd:string [Term] id: Orphanet:89838 name: Autosomal recessive epidermolysis bullosa simplex xref: ICD10:Q81.0 xref: OMIM:601001 xref: OMIM:615425 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:158665 ! Basal epidermolysis bullosa simplex property_value: alternative:term "EBS-AR" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal recessive epidermolysis bullosa simplex (EBS-AR) is a basal subtype of epidermolysis bullosa simplex EBS (see this term) characterized by generalized or, less frequently, localized acral blistering." xsd:string [Term] id: Orphanet:89839 name: Epidermolysis bullosa simplex superficialis xref: ICD10:Q81.0 xref: OMIM:607600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:158661 ! Suprabasal epidermolysis bullosa simplex property_value: alternative:term "EBSS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters." xsd:string [Term] id: Orphanet:89840 name: Junctional epidermolysis bullosa, non-Herlitz type xref: ICD10:Q81.8 xref: OMIM:226650 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:305 ! Junctional epidermolysis bullosa property_value: alternative:term "JEN-nH" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia." xsd:string [Term] id: Orphanet:89841 name: Centripetalis recessive dystrophic epidermolysis bullosa xref: ICD10:Q81.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:303 ! Dystrophic epidermolysis bullosa property_value: alternative:term "Centripetal dystrophic epidermolysis bullosa" xsd:string property_value: alternative:term "Centripetal recessive dystrophic epidermolysis bullosa" xsd:string property_value: alternative:term "RDEB, centripetalis" xsd:string property_value: alternative:term "RDEB-Ce" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk." xsd:string [Term] id: Orphanet:89842 name: Recessive dystrophic epidermolysis bullosa-generalized other xref: ICD10:Q81.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:263676 ! Hereditary epidermolysis bullosa associated with ocular features relationship: part_of Orphanet:303 ! Dystrophic epidermolysis bullosa property_value: alternative:term "Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis" xsd:string property_value: alternative:term "Autosomal recessive dystrophic epidermolysis bullosa, generalized other" xsd:string property_value: alternative:term "Generalized mitis RDEB" xsd:string property_value: alternative:term "RDEB generalisata mitis" xsd:string property_value: alternative:term "RDEB, non-Hallopeau-Siemens type" xsd:string property_value: alternative:term "RDEB-generalized other" xsd:string property_value: alternative:term "RDEB-O" xsd:string property_value: alternative:term "Recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities." xsd:string [Term] id: Orphanet:89843 name: Dystrophic epidermolysis bullosa pruriginosa xref: ICD10:Q81.2 xref: OMIM:604129 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:303 ! Dystrophic epidermolysis bullosa property_value: alternative:term "DEB, pruriginosa" xsd:string property_value: alternative:term "DEB-Pr" xsd:string property_value: alternative:term "Pruriginous dystrophic epidermolysis bullosa" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus." xsd:string [Term] id: Orphanet:89844 name: Lissencephaly syndrome, Norman-Roberts type xref: ICD10:Q04.3 xref: MESH:C537848 xref: OMIM:257320 xref: UMLS:C0796089 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:1083 ! Microlissencephaly relationship: part_of Orphanet:89832 ! Syndromic lymphedema property_value: alternative:term "Microlissencephaly type A" xsd:string [Term] id: Orphanet:89845 name: Idiopathic hydrops fetalis xref: ICD10:P83.2 xref: MESH:C531708 xref: SNOMED CT:206538000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:89832 ! Syndromic lymphedema [Term] id: Orphanet:899 name: Walker-Warburg syndrome xref: ICD10:Q04.3 xref: MESH:D058494 xref: OMIM:236670 xref: OMIM:253280 xref: OMIM:253800 xref: OMIM:613150 xref: OMIM:613153 xref: OMIM:613154 xref: OMIM:614643 xref: OMIM:614830 xref: OMIM:615041 xref: OMIM:615181 xref: OMIM:615249 xref: OMIM:615287 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:207119 ! Qualitative or quantitative defects of FKRP relationship: part_of Orphanet:207122 ! Qualitative or quantitative defects of fukutin relationship: part_of Orphanet:209024 ! Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase relationship: part_of Orphanet:209030 ! Qualitative or quantitative defects of protein O-mannosyltransferase 1 relationship: part_of Orphanet:209033 ! Qualitative or quantitative defects of protein O-mannosyltransferase 2 relationship: part_of Orphanet:309469 ! Disorder of O-mannosylglycan synthesis relationship: part_of Orphanet:352687 ! Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature relationship: part_of Orphanet:371235 ! Congenital disorder of glycosylation with developmental anomaly relationship: part_of Orphanet:98669 ! Congenital vitreoretinal dysplasia property_value: alternative:term "HARD syndrome" xsd:string property_value: alternative:term "Hydrocephalus - agyria - retinal dysplasia" xsd:string property_value: alternative:term "Hydrocephalus-agyria-retinal dysplasia syndrome" xsd:string property_value: alternative:term "WWS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities." xsd:string [Term] id: Orphanet:89936 name: X-linked hypophosphatemia xref: ICD10:E83.3 xref: OMIM:307800 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:437 ! Hypophosphatemic rickets property_value: alternative:term "X-linked hypophosphatemic rickets" xsd:string property_value: alternative:term "XLH" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth." xsd:string [Term] id: Orphanet:89937 name: Autosomal dominant hypophosphatemic rickets xref: ICD10:E83.3 xref: OMIM:193100 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:437 ! Hypophosphatemic rickets property_value: alternative:term "ADHR" xsd:string property_value: alternative:term "Autosomal dominant hypophosphatemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia." xsd:string [Term] id: Orphanet:89938 name: Infantile Bartter syndrome with deafness xref: ICD10:E26.8 xref: OMIM:602522 xref: OMIM:613090 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:112 ! Bartter syndrome relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Bartter syndrome type 4" xsd:string [Term] id: Orphanet:89939 name: Hyperkalemic renal tubular acidosis xref: ICD10:N25.8 xref: SNOMED CT:236463002 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:314822 ! Primary renal tubular acidosis property_value: alternative:term "Renal tubular acidosis type 4" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hyperkalemic renal tubular acidosis is a group of disorders associated with a generalized transport abnormality of the distal tubule and characterized by hyperchloremic metabolic acidosis and hyperkalemia due to aldosterone deficiency or impairment in aldosterone molecular signaling" xsd:string [Term] id: Orphanet:9 name: Tetrasomy X xref: ICD10:Q97.1 xref: MESH:C536502 xref: SNOMED CT:10567003 xref: UMLS:C0265496 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:263723 ! Polysomy of X chromosome relationship: part_of Orphanet:95710 ! Non-acquired premature ovarian failure property_value: alternative:term "48,XXXX" xsd:string property_value: alternative:term "Quadruple X" xsd:string property_value: alternative:term "Tetra X" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX)." xsd:string [Term] id: Orphanet:90 name: Argininemia xref: ICD10:E72.2 xref: MEDDRA:10062695 xref: MESH:D020162 xref: OMIM:207800 xref: SNOMED CT:23501004 xref: UMLS:C0268548 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79167 ! Disorder of urea cycle metabolism and ammonia detoxification property_value: alternative:term "Arginase deficiency" xsd:string property_value: alternative:term "Hyperargininemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment." xsd:string [Term] id: Orphanet:900 name: Granulomatosis with polyangiitis xref: ICD10:M31.3 xref: MEDDRA:10047888 xref: MESH:D014890 xref: OMIM:608710 xref: SNOMED CT:195353004 xref: SNOMED CT:239934006 xref: UMLS:C0043092 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:156152 ! Anti-neutrophil cytoplasmic antibody-associated vasculitis relationship: part_of Orphanet:166484 ! Inflammatory and autoimmune disease with epilepsy relationship: part_of Orphanet:209007 ! Systemic inflammatory disease associated with an acquired peripheral neuropathy relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "GPA" xsd:string property_value: alternative:term "Wegener granulomatosis" xsd:string [Term] id: Orphanet:90000 name: Erythema elevatum diutinum xref: ICD10:L95.1 xref: MEDDRA:10056968 xref: MESH:C535509 xref: SNOMED CT:254757003 xref: SNOMED CT:58872001 xref: UMLS:C0263398 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:156149 ! Immune complex mediated vasculitis [Term] id: Orphanet:90001 name: X-linked cone dysfunction syndrome with myopia xref: OMIM:300843 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98620 ! Syndromic myopia property_value: alternative:term "Bornholm eye disease" xsd:string [Term] id: Orphanet:90002 name: Undifferentiated connective tissue syndrome xref: SNOMED CT:239918008 xref: UMLS:C0409999 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:182228 ! Systemic autoimmune disease property_value: alternative:term "UCTD" xsd:string [Term] id: Orphanet:90003 name: Inflammatory pseudotumor of the liver is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101939 ! Rare parenchymatous liver disease [Term] id: Orphanet:90020 name: Amyotrophic lateral sclerosis-parkinsonism-dementia complex xref: ICD10:G12.2 xref: ICD10:G31.0 xref: OMIM:105500 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98534 ! Neurodegenerative disease with dementia property_value: alternative:term "Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam" xsd:string property_value: alternative:term "Guam disease" xsd:string property_value: alternative:term "Lytico-Bodig disease" xsd:string property_value: alternative:term "Parkinsonism-dementia-ALS complex" xsd:string property_value: alternative:term "PDALS" xsd:string [Term] id: Orphanet:90021 name: Radiation myelitis xref: ICD10:G97.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:102000 ! Medullar disease [Term] id: Orphanet:90023 name: Primary immunodeficiency syndrome due to p14 deficiency xref: ICD10:D82.8 xref: OMIM:610798 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:331184 ! Constitutional neutropenia with extra-haematopoietic manifestations property_value: alternative:term "Primary immunodeficiency syndrome with short stature" xsd:string [Term] id: Orphanet:90024 name: Deafness with labyrinthine aplasia, microtia, and microdontia xref: MESH:C548011 xref: OMIM:610706 xref: UMLS:C2932664 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "LAMM syndrome" xsd:string property_value: alternative:term "Microdontia - type I microtia - deafness" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome." xsd:string [Term] id: Orphanet:90025 name: Syndactyly xref: ICD10:Q70 xref: MEDDRA:10042778 xref: MESH:D013576 xref: SNOMED CT:373413006 xref: UMLS:C0039075 is_a: Orphanet:93458 ! Non syndromic polydactyly, syndactyly and/or hyperphalangy [Term] id: Orphanet:90026 name: Primary erythermalgia xref: ICD10:I73.8 xref: OMIM:133020 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:140474 ! Autosomal dominant hereditary sensory and autonomic neuropathy [Term] id: Orphanet:90030 name: Hemolytic anemia due to glutathione reductase deficiency xref: ICD10:D55.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98370 ! Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies [Term] id: Orphanet:90031 name: Non-spherocytic hemolytic anemia due to hexokinase deficiency xref: ICD10:D55.2 xref: OMIM:235700 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98372 ! Hemolytic anemia due to a disorder of glycolytic enzymes [Term] id: Orphanet:90033 name: Autoimmune hemolytic anemia, warm type xref: ICD10:D59.1 xref: MEDDRA:10047822 xref: SNOMED CT:3978000 xref: UMLS:C0272118 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98375 ! Autoimmune hemolytic anemia property_value: alternative:term "wAHA" xsd:string property_value: alternative:term "wAIHA" xsd:string property_value: alternative:term "Warm AIHA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia (see this term) defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40°C)." xsd:string [Term] id: Orphanet:90035 name: Paroxysmal cold hemoglobinuria xref: ICD10:D59.6 xref: MESH:C538618 xref: SNOMED CT:127057004 xref: SNOMED CT:62871001 xref: UMLS:C0272129 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:228312 ! Autoimmune hemolytic anemia, cold type property_value: alternative:term "Donath-Landsteiner hemolytic anemia" xsd:string property_value: alternative:term "Donath-Landsteiner syndrome" xsd:string property_value: alternative:term "PCH" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA, see this term), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures." xsd:string [Term] id: Orphanet:90036 name: Mixed-type autoimmune hemolytic anemia xref: ICD10:D59.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98375 ! Autoimmune hemolytic anemia property_value: alternative:term "Mixed AIHA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures." xsd:string [Term] id: Orphanet:90037 name: Drug-induced autoimmune hemolytic anemia xref: ICD10:D59.0 xref: SNOMED CT:309742004 xref: UMLS:C0391817 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98375 ! Autoimmune hemolytic anemia property_value: alternative:term "Drug-induced AIHA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA; see this term) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms." xsd:string [Term] id: Orphanet:90038 name: Typical hemolytic uremic syndrome xref: ICD10:D59.3 xref: OMIM:235400 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:182047 ! Rare acquired hemolytic anemia relationship: part_of Orphanet:93573 ! Thrombotic microangiopathy property_value: alternative:term "D+HUS" xsd:string property_value: alternative:term "Hemolytic-uremic syndrome with diarrhea" xsd:string property_value: alternative:term "Shiga-like toxin-associated HUS" xsd:string property_value: alternative:term "Sxt-HUS" xsd:string property_value: alternative:term "Typical HUS" xsd:string [Term] id: Orphanet:90039 name: Hemoglobin D disease xref: ICD10:D58.2 xref: MEDDRA:10055019 xref: SNOMED CT:66729008 xref: UMLS:C0272080 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:68364 ! Hemoglobinopathy [Term] id: Orphanet:90041 name: Gaisböck syndrome xref: ICD10:D75.1 xref: MEDDRA:10042217 xref: MEDDRA:10053885 xref: SNOMED CT:36874002 xref: SNOMED CT:48250002 xref: UMLS:C0541719 xref: UMLS:C2242785 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:238547 ! Acquired secondary polycythemia relationship: part_of Orphanet:248365 ! Rare thrombotic disorder due to an acquired coagulation factors defect property_value: alternative:term "Stress erythrocytosis" xsd:string property_value: alternative:term "Stress polycythemia" xsd:string [Term] id: Orphanet:90042 name: Primary familial polycythemia xref: ICD10:D75.0 xref: OMIM:133100 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:250165 ! Genetic polycythemia relationship: part_of Orphanet:98427 ! Polycythemia property_value: alternative:term "Congenital erythrocytosis due to erythropoietin receptor mutation" xsd:string property_value: alternative:term "Congenital polycythemia due to erythropoietin receptor mutation" xsd:string property_value: alternative:term "Familial erythrocytosis" xsd:string property_value: alternative:term "PFCP" xsd:string property_value: alternative:term "Primary congenital erythrocytosis" xsd:string property_value: alternative:term "Primary familial and congenital polycythemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels." xsd:string [Term] id: Orphanet:90044 name: Familial pseudohyperkalemia xref: ICD10:D58.8 xref: OMIM:185020 xref: OMIM:609153 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:182043 ! Rare constitutional hemolytic anemia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial pseudohyperkalemia (FP) is an inherited disorder associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C" xsd:string [Term] id: Orphanet:90045 name: Hereditary folate malabsorption xref: ICD10:D52.8 xref: OMIM:229050 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:104004 ! Intestinal disease due to vitamin absorption anomaly relationship: part_of Orphanet:285657 ! Disorder of folate metabolism and transport relationship: part_of Orphanet:98408 ! Constitutional megaloblastic anemia due to folate metabolism disorder property_value: alternative:term "Congenital folate malabsorption" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders." xsd:string [Term] id: Orphanet:90050 name: Retinopathy of prematurity xref: ICD10:H35.1 xref: MEDDRA:10038933 xref: MESH:D012178 xref: OMIM:133780 xref: SNOMED CT:415297005 xref: UMLS:C0035344 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:101949 ! Rare acquired eye disease property_value: alternative:term "Retrolental fibroplasia" xsd:string property_value: alternative:term "ROP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Retinopathy of prematurity (ROP) is a rare retinal vasoproliferative disorder affecting preterm infants characterized initially by a delay in physiologic retinal vascular development, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization." xsd:string [Term] id: Orphanet:90060 name: Diffuse alveolar hemorrhage xref: ICD10:J98.4 is_a: Orphanet:377793 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! particular clinical situation in a disease or syndrome relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:101944 ! Rare pulmonary disease [Term] id: Orphanet:90061 name: Non-infectious posterior uveitis xref: ICD10:H30.0 xref: ICD10:H30.1 is_a: Orphanet:280892 ! Posterior uveitis property_value: alternative:term "Non-infectious choroiditis" xsd:string [Term] id: Orphanet:90065 name: Acquired aneurysmal subarachnoid hemorrhage xref: ICD10:I60.9 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease [Term] id: Orphanet:90068 name: Cocaine poisoning xref: ICD10:T40.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:108999 ! Rare intoxication [Term] id: Orphanet:90069 name: Systemic monochloroacetate poisoning xref: ICD10:T60.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:108999 ! Rare intoxication [Term] id: Orphanet:90070 name: Methotrexate poisoning xref: ICD10:T45.1 is_a: Orphanet:377793 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! particular clinical situation in a disease or syndrome relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:306640 ! Rare intoxication due to medical products property_value: alternative:term "Methotrexate intoxication" xsd:string [Term] id: Orphanet:90077 name: Other acquired skin disease is_a: Orphanet:89826 ! Rare skin disease [Term] id: Orphanet:901 name: Wells syndrome xref: ICD10:L98.3 xref: MESH:C536693 xref: UMLS:C0343101 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90077 ! Other acquired skin disease property_value: alternative:term "Eosinophilic cellulitis" xsd:string [Term] id: Orphanet:90103 name: Charcot-Marie-Tooth disease - deafness - intellectual deficit xref: ICD10:G60.0 xref: OMIM:214370 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:140459 ! Autosomal recessive hereditary demyelinating motor and sensory neuropathy relationship: part_of Orphanet:166 ! Charcot-Marie-Tooth disease relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Hereditary motor and sensory neuropathy with deafness, intellectual deficit and absent sensory large myelinated fibers" xsd:string [Term] id: Orphanet:90114 name: Autosomal dominant intermediate Charcot-Marie-Tooth disease xref: ICD10:G60.0 is_a: Orphanet:140450 ! Hereditary motor and sensory neuropathy is_a: Orphanet:166 ! Charcot-Marie-Tooth disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant property_value: alternative:term "CMTDI" xsd:string [Term] id: Orphanet:90117 name: Hereditary motor and sensory neuropathy, Okinawa type xref: ICD10:G60.0 xref: MESH:C535717 xref: OMIM:604484 xref: UMLS:C1858338 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:140456 ! Autosomal dominant hereditary axonal motor and sensory neuropathy relationship: part_of Orphanet:166 ! Charcot-Marie-Tooth disease property_value: alternative:term "Hereditary motor and sensory neuropathy, proximal type" xsd:string property_value: alternative:term "HMSNP" xsd:string [Term] id: Orphanet:90118 name: Severe early-onset axonal neuropathy due to MFN2 deficiency xref: ICD10:G60.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:140450 ! Hereditary motor and sensory neuropathy relationship: part_of Orphanet:166 ! Charcot-Marie-Tooth disease property_value: alternative:term "Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type" xsd:string property_value: alternative:term "SEOAN due to MFN2 deficiency" xsd:string [Term] id: Orphanet:90119 name: Axonal Charcot-Marie-Tooth disease with acrodystrophy xref: ICD10:G60.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:140450 ! Hereditary motor and sensory neuropathy relationship: part_of Orphanet:166 ! Charcot-Marie-Tooth disease [Term] id: Orphanet:90120 name: Hereditary motor and sensory neuropathy type 6 xref: ICD10:G60.0 xref: OMIM:601152 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:140456 ! Autosomal dominant hereditary axonal motor and sensory neuropathy relationship: part_of Orphanet:166 ! Charcot-Marie-Tooth disease property_value: alternative:term "Charcot-Marie-Tooth disease type 6" xsd:string property_value: alternative:term "CMT6" xsd:string property_value: alternative:term "Peripheral neuropathy and optic atrophy" xsd:string [Term] id: Orphanet:90153 name: Mandibuloacral dysplasia with type A lipodystrophy xref: ICD10:Q87.5 xref: MESH:C535705 xref: OMIM:248370 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:2457 ! Mandibuloacral dysplasia [Term] id: Orphanet:90154 name: Mandibuloacral dysplasia with type B lipodystrophy xref: ICD10:Q87.5 xref: MESH:C535706 xref: OMIM:608612 xref: UMLS:C1837756 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:2457 ! Mandibuloacral dysplasia [Term] id: Orphanet:90156 name: Centrifugal lipodystrophy xref: ICD10:E88.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:79088 ! Localized lipodystrophy [Term] id: Orphanet:90157 name: Drug-induced localized lipodystrophy xref: ICD10:E88.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:79088 ! Localized lipodystrophy [Term] id: Orphanet:90158 name: Idiopathic localized lipodystrophy xref: ICD10:E88.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:79088 ! Localized lipodystrophy [Term] id: Orphanet:90159 name: Panniculitis and localized lipodystrophy xref: ICD10:E88.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:79088 ! Localized lipodystrophy [Term] id: Orphanet:90160 name: Pressure-induced localized lipoatrophy xref: ICD10:E88.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:79088 ! Localized lipodystrophy [Term] id: Orphanet:90185 name: Non-hereditary late-onset primary lymphedema xref: ICD10:I89.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:289825 ! Late-onset primary lymphedema property_value: alternative:term "Meige-like disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Non-hereditary late-onset primary lymphedema, also known as Meige-like disease, is a very rare form of primary lymphedema characterized by lower limb lymphedema mostly during puberty, but a negative family history for Meige disease (see this term)." xsd:string [Term] id: Orphanet:90186 name: Meige disease xref: ICD10:I89.0 xref: OMIM:153200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:289825 ! Late-onset primary lymphedema property_value: alternative:term "Hereditary lymphedema type II" xsd:string property_value: alternative:term "Meige lymphedema" xsd:string [Term] id: Orphanet:902 name: Werner syndrome xref: ICD10:E34.8 xref: MEDDRA:10049429 xref: MESH:D014898 xref: OMIM:277700 xref: SNOMED CT:51626007 xref: UMLS:C0043119 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:139033 ! Progeroid syndrome relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:222628 ! Hereditary poikiloderma relationship: part_of Orphanet:363245 ! Genetic progeroid syndrome relationship: part_of Orphanet:79389 ! Premature aging relationship: part_of Orphanet:98709 ! Ectodermal malformation syndrome associated with ocular features property_value: alternative:term "Adult progeria" xsd:string property_value: alternative:term "WS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders." xsd:string [Term] id: Orphanet:90280 name: Chilblain lupus xref: ICD10:L93.2 xref: MESH:C535924 xref: OMIM:610448 xref: OMIM:614415 xref: SNOMED CT:238928005 xref: SNOMED CT:72470008 xref: UMLS:C0024145 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163531 ! Chronic cutaneous lupus erythematosus relationship: part_of Orphanet:183478 ! Genetic skin vascular disease relationship: part_of Orphanet:79379 ! Skin vascular disease [Term] id: Orphanet:90281 name: Discoid lupus erythematosus xref: ICD10:L93.0 xref: MEDDRA:10013072 xref: MESH:D008179 xref: SNOMED CT:200938002 xref: SNOMED CT:238927000 xref: UMLS:C0024138 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163531 ! Chronic cutaneous lupus erythematosus [Term] id: Orphanet:90282 name: Hypertrophic or verrucous lupus erythematosus xref: ICD10:L93.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163531 ! Chronic cutaneous lupus erythematosus [Term] id: Orphanet:90283 name: Lupus erythematosus tumidus xref: ICD10:L93.2 xref: SNOMED CT:200941006 xref: UMLS:C0406636 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163531 ! Chronic cutaneous lupus erythematosus [Term] id: Orphanet:90285 name: Lupus erythematosus panniculitis xref: ICD10:L93.2 xref: MESH:D015435 xref: SNOMED CT:15084002 xref: SNOMED CT:239888002 xref: UMLS:C0030327 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163531 ! Chronic cutaneous lupus erythematosus property_value: alternative:term "Lupus erythematosus profundus" xsd:string [Term] id: Orphanet:90287 name: Maculopapular lupus rash xref: ICD10:L93.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:163528 ! Acute cutaneous lupus erythematosus [Term] id: Orphanet:90289 name: Localized scleroderma xref: ICD10:L94.0 xref: MEDDRA:10039712 xref: MESH:D012594 xref: SNOMED CT:201048007 xref: UMLS:C0036420 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:801 ! Scleroderma property_value: alternative:term "Localized fibrosing scleroderma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Localized scleroderma is the skin localized form of scleroderma (see this term) characterized by fibrosis of the skin causing cutaneous plaques or strips." xsd:string [Term] id: Orphanet:90290 name: CREST syndrome xref: ICD10:M34.1 xref: MEDDRA:10011380 xref: MESH:D017675 xref: OMIM:181750 xref: SNOMED CT:31848007 xref: UMLS:C0206138 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:209007 ! Systemic inflammatory disease associated with an acquired peripheral neuropathy relationship: part_of Orphanet:220402 ! Limited cutaneous systemic sclerosis property_value: alternative:term "Calcinosis - Raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc; see this term) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia." xsd:string [Term] id: Orphanet:90291 name: Systemic sclerosis xref: ICD10:M34 xref: MEDDRA:10042953 xref: OMIM:181750 xref: SNOMED CT:89155008 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:101944 ! Rare pulmonary disease relationship: part_of Orphanet:182228 ! Systemic autoimmune disease relationship: part_of Orphanet:217720 ! Non-familial restrictive cardiomyopathy relationship: part_of Orphanet:801 ! Scleroderma relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "Systemic scleroderma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Systemic sclerosis (SSc) is a generalized disorder of small arteries, microvessels and connective tissue, characterized by fibrosis and vascular obliteration in the skin and organs, particularly the lungs, heart, and digestive tract. There are two main subsets of SSc: diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc) (see these terms). A third subset of SSc has also been observed, called limited Systemic Sclerosis (lSSc) or systemic sclerosis sine scleroderma (see these terms)." xsd:string [Term] id: Orphanet:903 name: Von Willebrand disease xref: ICD10:D68.0 xref: MEDDRA:10047715 xref: MESH:D014842 xref: OMIM:193400 xref: OMIM:277480 xref: OMIM:314560 xref: OMIM:613554 xref: SNOMED CT:128105004 xref: UMLS:C0042974 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:68334 ! Rare hemorrhagic disorder due to a constitutional coagulation factors defect property_value: alternative:term "Hereditary Willebrand disease" xsd:string property_value: alternative:term "Willebrand disease" xsd:string [Term] id: Orphanet:90301 name: Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement xref: OMIM:200170 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181368 ! Insulin-resistance syndrome relationship: part_of Orphanet:79359 ! Other epidermis disorder relationship: part_of Orphanet:79360 ! Other genetic epidermal disease [Term] id: Orphanet:90307 name: Parkes Weber syndrome xref: ICD10:Q87.2 xref: OMIM:608355 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:2346 ! Angio-osteohypertrophic syndrome [Term] id: Orphanet:90308 name: Klippel-Trénaunay syndrome xref: ICD10:Q87.2 xref: MEDDRA:10051452 xref: OMIM:149000 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:2346 ! Angio-osteohypertrophic syndrome [Term] id: Orphanet:90309 name: Ehlers-Danlos syndrome type 1 xref: ICD10:Q79.6 xref: MESH:C536194 xref: OMIM:130000 xref: SNOMED CT:83470009 xref: UMLS:C0268335 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:287 ! Ehlers-Danlos syndrome, classic type property_value: alternative:term "EDS I" xsd:string [Term] id: Orphanet:90318 name: Ehlers-Danlos syndrome type 2 xref: ICD10:Q79.6 xref: MESH:C536195 xref: OMIM:130010 xref: SNOMED CT:20766005 xref: UMLS:C0268336 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:287 ! Ehlers-Danlos syndrome, classic type property_value: alternative:term "EDS II" xsd:string [Term] id: Orphanet:90321 name: Cockayne syndrome type 1 xref: ICD10:Q87.8 xref: OMIM:133540 xref: OMIM:216400 xref: UMLS:C0751039 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:191 ! Cockayne syndrome [Term] id: Orphanet:90322 name: Cockayne syndrome type 2 xref: ICD10:Q87.8 xref: OMIM:133540 xref: OMIM:216400 xref: UMLS:C0751038 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:191 ! Cockayne syndrome [Term] id: Orphanet:90324 name: Cockayne syndrome type 3 xref: ICD10:Q87.8 xref: OMIM:133540 xref: OMIM:216400 xref: OMIM:216411 xref: UMLS:C0751037 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:191 ! Cockayne syndrome [Term] id: Orphanet:90338 name: Margarita island ectodermal dysplasia is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_3253 with label: Zlotogora-Ogur syndrome" xsd:string [Term] id: Orphanet:90339 name: Rosselli-Gulienetti syndrome xref: OMIM:225000 xref: UMLS:C0796139 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:320317 ! Cleft lip/palate - ectodermal dysplasia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Rosselli-Gulienetti syndrome is a type of ectodermal dysplasia characterized by anhidrosis, hypotrichosis, cleft and lip palate, microdontia and syndactyly." xsd:string [Term] id: Orphanet:90340 name: Blau syndrome xref: OMIM:186580 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183472 ! Genetic dermis disorder relationship: part_of Orphanet:264714 ! Secondary interstitial lung disease specific to childhood associated with a granulomatous disease relationship: part_of Orphanet:280926 ! Systemic diseases with anterior uveitis relationship: part_of Orphanet:280933 ! Systemic diseases with panuveitis relationship: part_of Orphanet:290839 ! Autoinflammatory syndrome with immune deficiency relationship: part_of Orphanet:290842 ! Autoinflammatory syndrome with skin involvement relationship: part_of Orphanet:324930 ! Granulomatous autoinflammatory syndrome relationship: part_of Orphanet:79381 ! Unclassified dermis disorder property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." xsd:string [Term] id: Orphanet:90341 name: Early-onset sarcoidosis is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_90340 with label: Blau syndrome" xsd:string [Term] id: Orphanet:90342 name: Xeroderma pigmentosum variant xref: ICD10:Q82.1 xref: MESH:C536766 xref: OMIM:278750 xref: SNOMED CT:88877002 xref: UMLS:C0432328 xref: UMLS:C1848410 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:910 ! Xeroderma pigmentosum property_value: alternative:term "XPV" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer." xsd:string [Term] id: Orphanet:90348 name: Autosomal dominant cutis laxa xref: ICD10:Q82.8 xref: OMIM:123700 xref: OMIM:614434 xref: SNOMED CT:111388003 xref: UMLS:C0268350 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:209 ! Cutis laxa property_value: alternative:term "ADCL" xsd:string [Term] id: Orphanet:90349 name: Autosomal recessive cutis laxa type 1 xref: ICD10:Q82.8 xref: OMIM:219100 xref: OMIM:614437 xref: SNOMED CT:254222002 xref: UMLS:C0432336 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:209 ! Cutis laxa relationship: part_of Orphanet:285014 ! Rare disease with thoracic aortic aneurysm and aortic dissection property_value: alternative:term "ARCL1" xsd:string property_value: alternative:term "Autosomal recessive cutis laxa with severe systemic involvement" xsd:string property_value: alternative:term "Autosomal recessive cutis laxa, pulmonary emphysema type" xsd:string [Term] id: Orphanet:90350 name: Autosomal recessive cutis laxa type 2 xref: ICD10:Q82.8 xref: OMIM:219200 xref: OMIM:278250 xref: OMIM:612940 xref: SNOMED CT:254223007 xref: UMLS:C0432337 is_a: Orphanet:209 ! Cutis laxa is_a: Orphanet:289866 ! Disorder of proline metabolism is_a: Orphanet:93446 ! Primary bone dysplasia with decreased bone density relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 property_value: alternative:term "ARCL2" xsd:string property_value: alternative:term "Cutis laxa with joint laxity and developmental delay" xsd:string [Term] id: Orphanet:90354 name: Brittle cornea syndrome xref: ICD10:Q79.6 xref: OMIM:229200 xref: OMIM:614170 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98249 ! Ehlers-Danlos syndrome relationship: part_of Orphanet:98702 ! Connective tissue disease with eye involvement property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Brittle cornea syndrome (BCS) is a form of Ehlers-Danlos syndrome (EDS; see this term) characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. BCS generally progresses to blindness." xsd:string [Term] id: Orphanet:90362 name: Primary intestinal lymphangiectasia xref: ICD10:I89.0 xref: MESH:C536567 xref: OMIM:152800 xref: SNOMED CT:6124009 xref: UMLS:C0267372 xref: UMLS:C2931241 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:165655 ! Genetic intestinal disease relationship: part_of Orphanet:36204 ! Intestinal lymphangiectasia property_value: alternative:term "Waldmann disease" xsd:string [Term] id: Orphanet:90363 name: Secondary intestinal lymphangiectasia xref: ICD10:I89.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:36204 ! Intestinal lymphangiectasia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia (see this term) manifesting as a protein-losing enteropathy due to another disorder such as Crohn’s disease, congestive heart failure, sarcoidosis, Turner syndrome (see these terms) and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions." xsd:string [Term] id: Orphanet:90368 name: Hypotrichosis simplex of the scalp xref: ICD10:L65.8 xref: OMIM:146520 xref: OMIM:613981 is_a: Orphanet:55654 ! Hypotrichosis simplex relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Hereditary hypotrichosis simplex of the scalp" xsd:string [Term] id: Orphanet:90389 name: Telangiectasia macularis eruptiva perstans xref: ICD10:Q82.2 xref: MEDDRA:10043192 xref: SNOMED CT:8214000 xref: UMLS:C0263402 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:79457 ! Maculopapular cutaneous mastocytosis [Term] id: Orphanet:90390 name: Anonychia - onychodystrophy xref: ICD10:Q84.3 xref: MESH:C536378 xref: OMIM:107000 xref: OMIM:614149 xref: UMLS:C1862840 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79143 ! Congenital anonychia [Term] id: Orphanet:90393 name: Nodular lichen myxedematosus xref: ICD10:L98.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:86795 ! Localized lichen myxedematosus property_value: alternative:term "Atypical tuberous myxedema of Jadassohn-Dosseker" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus (see this term) characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption." xsd:string [Term] id: Orphanet:90394 name: Discrete papular lichen myxedematosus xref: ICD10:L98.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:86795 ! Localized lichen myxedematosus property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus (see this term) characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk." xsd:string [Term] id: Orphanet:90395 name: Papular mucinosis of infancy xref: ICD10:L98.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:86795 ! Localized lichen myxedematosus property_value: alternative:term "Cutaneous mucinosis of infancy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus (see this term) characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk." xsd:string [Term] id: Orphanet:90396 name: Acral persistent papular mucinosis xref: ICD10:L98.5 xref: SNOMED CT:238949006 xref: UMLS:C0406660 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:86795 ! Localized lichen myxedematosus property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus (see this term) characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms." xsd:string [Term] id: Orphanet:90397 name: Self-healing papular mucinosis xref: ICD10:L98.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:86795 ! Localized lichen myxedematosus property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Self-healing papular mucinosis is a rare form of localized lichen myxedematosus (see this term) occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness." xsd:string [Term] id: Orphanet:90398 name: Localized lichen myxedematosus with mixed features of different subtypes xref: ICD10:L98.5 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:86797 ! Atypical lichen myxedematosus [Term] id: Orphanet:90399 name: Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms xref: ICD10:L98.5 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:86797 ! Atypical lichen myxedematosus [Term] id: Orphanet:904 name: Williams syndrome xref: ICD10:Q87.8 xref: MEDDRA:10049644 xref: MESH:D018980 xref: OMIM:194050 xref: SNOMED CT:63247009 xref: UMLS:C0175702 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:139021 ! Malformation syndrome with short stature relationship: part_of Orphanet:156532 ! Rare syndrome with cardiac malformations relationship: part_of Orphanet:156629 ! Genetic hypertension relationship: part_of Orphanet:262056 ! Partial deletion of the long arm of chromosome 7 relationship: part_of Orphanet:306765 ! Motor stereotypies relationship: part_of Orphanet:98033 ! Rare neurologic disease with psychiatric involvement relationship: part_of Orphanet:98574 ! Syndromic epicanthus property_value: alternative:term "Deletion 7q11.23" xsd:string property_value: alternative:term "Monosomy 7q11.23" xsd:string property_value: alternative:term "Williams-Beuren syndrome" xsd:string [Term] id: Orphanet:90400 name: Scleromyxedema without monoclonal gammopathy xref: ICD10:L98.5 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:86797 ! Atypical lichen myxedematosus [Term] id: Orphanet:905 name: Wilson disease xref: ICD10:E83.0 xref: OMIM:277900 xref: SNOMED CT:88518009 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:225692 ! Metal transport or utilization disorder with epilepsy relationship: part_of Orphanet:306712 ! Rare tremor disorder relationship: part_of Orphanet:307061 ! Rare genetic tremor disorder relationship: part_of Orphanet:309839 ! Disorder of copper metabolism relationship: part_of Orphanet:370106 ! Rare disorder with dystonia and other neurologic or systemic manifestation relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease relationship: part_of Orphanet:98033 ! Rare neurologic disease with psychiatric involvement relationship: part_of Orphanet:98687 ! Supranuclear oculomotor palsy relationship: part_of Orphanet:98711 ! Metabolic disease with corneal opacity relationship: part_of Orphanet:98712 ! Metabolic disease with cataract property_value: alternative:term "Hepatolenticular degeneration" xsd:string [Term] id: Orphanet:906 name: Wiskott-Aldrich syndrome xref: ICD10:D82.0 xref: MEDDRA:10047992 xref: MESH:D014923 xref: OMIM:277970 xref: OMIM:301000 xref: OMIM:600903 xref: OMIM:614493 xref: SNOMED CT:36070007 xref: UMLS:C0043194 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:183494 ! Genetic immune deficiency with skin involvement relationship: part_of Orphanet:331217 ! Other immunodeficiency syndrome due to defects in adaptive immunity relationship: part_of Orphanet:79391 ! Immune deficiency with skin involvement relationship: part_of Orphanet:98456 ! Dense granule disease property_value: alternative:term "Eczema-thrombocytopenia-immunodeficiency syndrome" xsd:string property_value: alternative:term "WAS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies." xsd:string [Term] id: Orphanet:90625 name: X-linked nonsyndromic sensorineural deafness type DFN xref: ICD10:H90.3 xref: OMIM:300030 xref: OMIM:300066 xref: OMIM:304500 xref: OMIM:304590 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:216445 ! Prelingual nonsyndromic genetic deafness relationship: part_of Orphanet:216452 ! Postlingual nonsyndromic genetic deafness relationship: part_of Orphanet:79191 ! Disorder of purine metabolism property_value: alternative:term "X-linked isolated neurosensory deafness type DFN" xsd:string property_value: alternative:term "X-linked isolated neurosensory hearing loss type DFN" xsd:string property_value: alternative:term "X-linked isolated sensorineural deafness type DFN" xsd:string property_value: alternative:term "X-linked isolated sensorineural hearing loss type DFN" xsd:string property_value: alternative:term "X-linked nonsyndromic neurosensory deafness type DFN" xsd:string property_value: alternative:term "X-linked nonsyndromic neurosensory hearing loss type DFN" xsd:string property_value: alternative:term "X-linked nonsyndromic sensorineural hearing loss type DFN" xsd:string [Term] id: Orphanet:90635 name: Autosomal dominant nonsyndromic sensorineural deafness type DFNA xref: ICD10:H90.3 xref: OMIM:124900 xref: OMIM:600101 xref: OMIM:600652 xref: OMIM:600965 xref: OMIM:600994 xref: OMIM:601316 xref: OMIM:601317 xref: OMIM:601369 xref: OMIM:601412 xref: OMIM:601543 xref: OMIM:601544 xref: OMIM:601868 xref: OMIM:602459 xref: OMIM:603622 xref: OMIM:603964 xref: OMIM:604717 xref: OMIM:605192 xref: OMIM:605583 xref: OMIM:606012 xref: OMIM:606282 xref: OMIM:606346 xref: OMIM:606451 xref: OMIM:606705 xref: OMIM:607017 xref: OMIM:607197 xref: OMIM:607453 xref: OMIM:607683 xref: OMIM:607841 xref: OMIM:608224 xref: OMIM:608372 xref: OMIM:608394 xref: OMIM:608641 xref: OMIM:608645 xref: OMIM:608652 xref: OMIM:609129 xref: OMIM:609965 xref: OMIM:612431 xref: OMIM:612642 xref: OMIM:612643 xref: OMIM:612644 xref: OMIM:613074 xref: OMIM:613558 xref: OMIM:614152 xref: OMIM:614211 xref: OMIM:614614 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:216445 ! Prelingual nonsyndromic genetic deafness relationship: part_of Orphanet:216452 ! Postlingual nonsyndromic genetic deafness property_value: alternative:term "Autosomal dominant isolated neurosensory deafness type DFNA" xsd:string property_value: alternative:term "Autosomal dominant isolated neurosensory hearing loss type DFNA" xsd:string property_value: alternative:term "Autosomal dominant isolated sensorineural deafness type DFNA" xsd:string property_value: alternative:term "Autosomal dominant isolated sensorineural hearing loss type DFNA" xsd:string property_value: alternative:term "Autosomal dominant nonsyndromic neurosensory deafness type DFNA" xsd:string property_value: alternative:term "Autosomal dominant nonsyndromic neurosensory hearing loss type DFNA" xsd:string property_value: alternative:term "Autosomal dominant nonsyndromic sensorineural hearing loss type DFNA" xsd:string [Term] id: Orphanet:90636 name: Autosomal recessive nonsyndromic sensorineural deafness type DFNB xref: ICD10:H90.3 xref: OMIM:220290 xref: OMIM:220900 xref: OMIM:600060 xref: OMIM:600316 xref: OMIM:600791 xref: OMIM:600792 xref: OMIM:600971 xref: OMIM:600974 xref: OMIM:601071 xref: OMIM:601072 xref: OMIM:601386 xref: OMIM:601869 xref: OMIM:602092 xref: OMIM:603010 xref: OMIM:603098 xref: OMIM:603629 xref: OMIM:603678 xref: OMIM:603720 xref: OMIM:604060 xref: OMIM:605428 xref: OMIM:605818 xref: OMIM:607039 xref: OMIM:607084 xref: OMIM:607101 xref: OMIM:607239 xref: OMIM:607821 xref: OMIM:608219 xref: OMIM:608264 xref: OMIM:608265 xref: OMIM:608565 xref: OMIM:608653 xref: OMIM:609006 xref: OMIM:609439 xref: OMIM:609533 xref: OMIM:609646 xref: OMIM:609647 xref: OMIM:609706 xref: OMIM:609823 xref: OMIM:609941 xref: OMIM:609946 xref: OMIM:609952 xref: OMIM:610143 xref: OMIM:610153 xref: OMIM:610154 xref: OMIM:610212 xref: OMIM:610220 xref: OMIM:610248 xref: OMIM:610265 xref: OMIM:610419 xref: OMIM:611022 xref: OMIM:611451 xref: OMIM:612433 xref: OMIM:612645 xref: OMIM:612789 xref: OMIM:613079 xref: OMIM:613285 xref: OMIM:613307 xref: OMIM:613391 xref: OMIM:613392 xref: OMIM:613453 xref: OMIM:613685 xref: OMIM:613718 xref: OMIM:613865 xref: OMIM:613916 xref: OMIM:614035 xref: OMIM:614414 xref: OMIM:614617 xref: OMIM:614861 xref: OMIM:614899 xref: OMIM:614934 xref: OMIM:614944 xref: OMIM:614945 xref: OMIM:615429 xref: OMIM:615540 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:216445 ! Prelingual nonsyndromic genetic deafness relationship: part_of Orphanet:216452 ! Postlingual nonsyndromic genetic deafness property_value: alternative:term "Autosomal recessive isolated neurosensory deafness type DFNB" xsd:string property_value: alternative:term "Autosomal recessive isolated sensorineural deafness type DFNB" xsd:string property_value: alternative:term "Autosomal recessive nonsyndromic neurosensory deafness type DFNB" xsd:string [Term] id: Orphanet:90641 name: Mitochondrial nonsyndromic sensorineural deafness xref: ICD10:H90.3 xref: OMIM:221745 xref: OMIM:500008 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:216445 ! Prelingual nonsyndromic genetic deafness relationship: part_of Orphanet:216452 ! Postlingual nonsyndromic genetic deafness relationship: part_of Orphanet:254776 ! Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA property_value: alternative:term "Isolated mitochondrial neurosensory deafness" xsd:string property_value: alternative:term "Isolated mitochondrial sensorineural deafness" xsd:string property_value: alternative:term "Mitochondrial nonsyndromic neurosensory deafness" xsd:string [Term] id: Orphanet:90642 name: Syndromic genetic deafness xref: ICD10:H90.3 is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis is_a: Orphanet:96210 ! Rare genetic deafness [Term] id: Orphanet:90646 name: Deafness - hypogonadism xref: OMIM:304350 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:181441 ! Non-hypogonadotropic hypogonadism relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:90647 name: Jervell and Lange-Nielsen syndrome xref: ICD10:I45.8 xref: MEDDRA:10057936 xref: MESH:D029593 xref: OMIM:220400 xref: OMIM:612347 xref: SNOMED CT:373905003 xref: UMLS:C0022387 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:768 ! Familial long QT syndrome relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Long QT interval - deafness" xsd:string [Term] id: Orphanet:90649 name: Oral-facial-digital syndrome type 7 is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_2750 with label: Oral-facial-digital syndrome type 1" xsd:string [Term] id: Orphanet:90650 name: Otopalatodigital syndrome type 1 xref: ICD10:Q87.0 xref: OMIM:311300 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: part_of Orphanet:669 ! Otopalatodigital syndrome [Term] id: Orphanet:90652 name: Otopalatodigital syndrome type 2 xref: ICD10:Q87.0 xref: MESH:C538089 xref: OMIM:304120 xref: SNOMED CT:42432003 xref: UMLS:C1844696 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: part_of Orphanet:669 ! Otopalatodigital syndrome [Term] id: Orphanet:90653 name: Stickler syndrome type 1 xref: ICD10:Q15.8 xref: ICD10:Q87.5 xref: OMIM:108300 xref: OMIM:609508 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:828 ! Stickler syndrome relationship: part_of Orphanet:93421 ! Type 2 collagen-related bone disorder [Term] id: Orphanet:90654 name: Stickler syndrome type 2 xref: ICD10:Q15.8 xref: ICD10:Q87.5 xref: MESH:C537493 xref: OMIM:604841 xref: UMLS:C1858084 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:828 ! Stickler syndrome relationship: part_of Orphanet:93422 ! Type 11 collagen-related bone disorder [Term] id: Orphanet:90658 name: Charcot-Marie-Tooth disease type 1E xref: ICD10:G60.0 xref: MESH:C537986 xref: MESH:C538078 xref: OMIM:118300 xref: UMLS:C1861669 xref: UMLS:C2931686 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:65753 ! Charcot-Marie-Tooth disease type 1 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Charcot-Marie-Tooth disease - deafness" xsd:string property_value: alternative:term "CMT1E" xsd:string [Term] id: Orphanet:90673 name: Hypothyroidism due to TSH receptor mutations xref: ICD10:E03.1 xref: OMIM:275200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:95714 ! Primary congenital hypothyroidism without thyroid developmental anomaly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH." xsd:string [Term] id: Orphanet:90674 name: Isolated thyroid-stimulating hormone deficiency xref: ICD10:E03.1 xref: OMIM:275100 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:226298 ! Central congenital hypothyroidism relationship: part_of Orphanet:95488 ! Nonacquired pituitary hormone deficiency property_value: alternative:term "Isolated TSH deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis." xsd:string [Term] id: Orphanet:90692 name: Rare endocrine growth disease is_a: Orphanet:97978 ! Rare endocrine disease [Term] id: Orphanet:90695 name: Panhypopituitarism xref: ICD10:E23.0 xref: MEDDRA:10033662 xref: OMIM:262600 xref: OMIM:312000 xref: SNOMED CT:32390006 xref: UMLS:C0242343 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:178025 ! Nonacquired combined pituitary hormone deficiencies without extra-pituitary malformations [Term] id: Orphanet:90771 name: Disorder of sex development xref: MESH:D012734 xref: UMLS:C0036875 is_a: Orphanet:101433 ! Rare urogenital disease is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis is_a: Orphanet:97978 ! Rare endocrine disease property_value: alternative:term "DSD" xsd:string [Term] id: Orphanet:90776 name: 46,XX disorder of sex development induced by fetal androgens excess xref: ICD10:E25.0 is_a: Orphanet:325665 ! Genetic disorder of sex development of gynecological interest is_a: Orphanet:325697 ! Genetic 46,XX disorder of sex development is_a: Orphanet:98078 ! 46,XX disorder of sex development induced by androgens excess property_value: alternative:term "46,XX DSD induced by fetal androgens excess" xsd:string [Term] id: Orphanet:90783 name: 46,XY disorder of sex development due to testosterone synthesis defect is_a: Orphanet:325357 ! 46,XY disorder of sex development due to impaired androgen production property_value: alternative:term "46,XY DSD due to due to testosterone synthesis defect" xsd:string [Term] id: Orphanet:90786 name: 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect is_a: Orphanet:325632 ! 46,XY disorder of sex development of gynecological interest is_a: Orphanet:90783 ! 46,XY disorder of sex development due to testosterone synthesis defect property_value: alternative:term "46,XY DSD due to adrenal and testicular steroidogenesis defect" xsd:string [Term] id: Orphanet:90787 name: 46,XY disorder of sex development due to testicular steroidogenesis defect xref: ICD10:E29.1 is_a: Orphanet:325632 ! 46,XY disorder of sex development of gynecological interest is_a: Orphanet:90783 ! 46,XY disorder of sex development due to testosterone synthesis defect property_value: alternative:term "46,XY DSD due to testicular steroidogenesis defect" xsd:string [Term] id: Orphanet:90790 name: Congenital lipoid adrenal hyperplasia due to STAR deficency xref: ICD10:E25.0 xref: MESH:C537027 xref: OMIM:201710 xref: UMLS:C0342474 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:418 ! Congenital adrenal hyperplasia relationship: part_of Orphanet:90786 ! 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect relationship: part_of Orphanet:95710 ! Non-acquired premature ovarian failure property_value: alternative:term "CLAH" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males." xsd:string [Term] id: Orphanet:90791 name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency xref: ICD10:E25.0 xref: OMIM:201810 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:418 ! Congenital adrenal hyperplasia relationship: part_of Orphanet:90776 ! 46,XX disorder of sex development induced by fetal androgens excess relationship: part_of Orphanet:90786 ! 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect property_value: alternative:term "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." xsd:string [Term] id: Orphanet:90793 name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency xref: ICD10:E25.0 xref: OMIM:202110 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:418 ! Congenital adrenal hyperplasia relationship: part_of Orphanet:90786 ! 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect relationship: part_of Orphanet:95710 ! Non-acquired premature ovarian failure property_value: alternative:term "CAH due to 17-alpha-hydroxylase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." xsd:string [Term] id: Orphanet:90794 name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency xref: ICD10:E25.0 xref: OMIM:201910 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:418 ! Congenital adrenal hyperplasia relationship: part_of Orphanet:90776 ! 46,XX disorder of sex development induced by fetal androgens excess relationship: part_of Orphanet:98048 ! Rare male infertility property_value: alternative:term "Classic 21-OHD CAH" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females, and in both sexes with adrenal insufficiency with dehydration during the neonatal period, life threatening hypoglycemia and hyperandrogenia." xsd:string [Term] id: Orphanet:90795 name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency xref: ICD10:E25.0 xref: MEDDRA:10000002 xref: MESH:C535978 xref: OMIM:202010 xref: SNOMED CT:124214007 xref: UMLS:C0268292 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:418 ! Congenital adrenal hyperplasia relationship: part_of Orphanet:90776 ! 46,XX disorder of sex development induced by fetal androgens excess property_value: alternative:term "CAH due to 11-beta-hydroxylase deficiency" xsd:string property_value: alternative:term "CYP11B1 deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." xsd:string [Term] id: Orphanet:90796 name: 46,XY disorder of sex development due to isolated 17, 20 lyase deficiency xref: ICD10:E29.1 xref: OMIM:614279 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:90787 ! 46,XY disorder of sex development due to testicular steroidogenesis defect [Term] id: Orphanet:90797 name: Partial androgen insensitivity syndrome xref: ICD10:E34.5 xref: OMIM:312300 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:754 ! Androgen insensitivity syndrome property_value: alternative:term "PAIS" xsd:string property_value: alternative:term "Partial androgen resistance syndrome" xsd:string [Term] id: Orphanet:908 name: Fragile X syndrome xref: ICD10:Q99.2 xref: MEDDRA:10017324 xref: MESH:D005600 xref: OMIM:300624 xref: SNOMED CT:254287005 xref: SNOMED CT:613003 xref: UMLS:C0016667 xref: UMLS:C0751156 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:138063 ! Syndrome associated with Pierre Robin syndrome relationship: part_of Orphanet:166469 ! Chromosomal anomaly with epilepsy as a major feature relationship: part_of Orphanet:180772 ! Rare disease with autism relationship: part_of Orphanet:240371 ! Syndromic obesity relationship: part_of Orphanet:306765 ! Motor stereotypies relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit relationship: part_of Orphanet:98683 ! Syndrome with a symptomatic strabismus property_value: alternative:term "FraX syndrome" xsd:string property_value: alternative:term "FRAXA syndrome" xsd:string property_value: alternative:term "FXS" xsd:string property_value: alternative:term "Martin-Bell syndrome" xsd:string [Term] id: Orphanet:909 name: Cerebrotendinous xanthomatosis xref: ICD10:E75.5 xref: MESH:D019294 xref: OMIM:213700 xref: SNOMED CT:63246000 xref: UMLS:C0238052 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:163631 ! Bile acid synthesis defect with cholestasis and malabsorption relationship: part_of Orphanet:181437 ! Rare syndromic dyslipidemia relationship: part_of Orphanet:182070 ! Rare neurodegenerative disease relationship: part_of Orphanet:183484 ! Genetic subcutaneous tissue disease relationship: part_of Orphanet:183500 ! Genetic neurodegenerative disease relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:225710 ! Sterol metabolism disorder with epilepsy relationship: part_of Orphanet:68356 ! Leukodystrophy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79382 ! Subcutaneous tissue disease relationship: part_of Orphanet:98096 ! Autosomal recessive metabolic cerebellar ataxia relationship: part_of Orphanet:98544 ! Cerebral lipidosis with dementia relationship: part_of Orphanet:98712 ! Metabolic disease with cataract property_value: alternative:term "CTX" xsd:string property_value: alternative:term "Sterol 27-hydroxylase deficiency" xsd:string [Term] id: Orphanet:90970 name: Primary lipodystrophy xref: ICD10:E88.1 is_a: Orphanet:183484 ! Genetic subcutaneous tissue disease is_a: Orphanet:79382 ! Subcutaneous tissue disease is_a: Orphanet:97978 ! Rare endocrine disease [Term] id: Orphanet:91 name: Aromatase deficiency xref: ICD10:E25.8 xref: MESH:C537436 xref: OMIM:613546 xref: UMLS:C0878680 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:163637 ! Rare disorder related with pregnancy, childbirth and puerperium relationship: part_of Orphanet:325061 ! 46,XX disorder of sex development induced by fetoplacental androgens excess relationship: part_of Orphanet:95710 ! Non-acquired premature ovarian failure property_value: alternative:term "Congenital estrogen deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men." xsd:string [Term] id: Orphanet:910 name: Xeroderma pigmentosum xref: ICD10:Q82.1 xref: MEDDRA:10048220 xref: MESH:D014983 xref: OMIM:194400 xref: OMIM:278700 xref: OMIM:278720 xref: OMIM:278730 xref: OMIM:278740 xref: OMIM:278750 xref: OMIM:278760 xref: OMIM:278780 xref: OMIM:610651 xref: SNOMED CT:44600005 xref: UMLS:C0043346 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement relationship: part_of Orphanet:139033 ! Progeroid syndrome relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:183490 ! Genetic photodermatosis relationship: part_of Orphanet:363245 ! Genetic progeroid syndrome relationship: part_of Orphanet:79390 ! Rare photodermatosis property_value: alternative:term "XP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms)." xsd:string [Term] id: Orphanet:91024 name: Autosomal recessive axonal Charcot-Marie-Tooth disease type 2 xref: ICD10:G60.0 is_a: Orphanet:140450 ! Hereditary motor and sensory neuropathy is_a: Orphanet:166 ! Charcot-Marie-Tooth disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive property_value: alternative:term "AR-CMT2" xsd:string property_value: alternative:term "Autosomal recessive axonal Charcot-Marie-Tooth disease type 4C" xsd:string property_value: alternative:term "Charcot-Marie-Tooth disease, axonal, autosomal recessive type 4C" xsd:string [Term] id: Orphanet:91088 name: Other metabolic disease is_a: Orphanet:68367 ! Inborn errors of metabolism [Term] id: Orphanet:911 name: Combined immunodeficiency due to ZAP70 deficiency xref: ICD10:D81.8 xref: OMIM:269840 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency property_value: alternative:term "Zeta-associated-protein 70 deficiency" xsd:string [Term] id: Orphanet:91129 name: Anophthalmia - heart and pulmonary anomalies - intellectual deficit is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_2470 with label: Matthew-Wood syndrome" xsd:string [Term] id: Orphanet:91130 name: Cardiomyopathy - hypotonia - lactic acidosis xref: ICD10:G71.3 xref: OMIM:610773 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:217595 ! Syndrome associated with hypertrophic cardiomyopathy relationship: part_of Orphanet:254830 ! Mitochondrial substrate carrier disorder [Term] id: Orphanet:91131 name: DK1-CDG xref: ICD10:E77.8 xref: OMIM:610768 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:281244 ! Autosomal ichthyosis syndrome with other associated signs relationship: part_of Orphanet:309526 ! Disorder of multiple glycosylation relationship: part_of Orphanet:371176 ! Congenital disorder of glycosylation with dilated cardiomyopathy relationship: part_of Orphanet:371200 ! Congenital disorder of glycosylation with skin involvement property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type Im" xsd:string property_value: alternative:term "CDG syndrome type 1m" xsd:string property_value: alternative:term "CDG syndrome type Im" xsd:string property_value: alternative:term "CDG-Im" xsd:string property_value: alternative:term "CDG1M" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type 1m" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type Im" xsd:string property_value: alternative:term "Dolichol kinase deficiency" xsd:string property_value: alternative:term "Hypotonia and ichthyosis due to dolichol phosphate deficiency" xsd:string [Term] id: Orphanet:91132 name: Ichthyosis-hypotrichosis syndrome xref: ICD10:Q80.8 xref: OMIM:610765 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:281222 ! Autosomal ichthyosis syndrome with prominent hair abnormalities relationship: part_of Orphanet:79364 ! Alopecia property_value: alternative:term "Hypotrichosis - congenital ichthyosis" xsd:string [Term] id: Orphanet:91133 name: Osteopenia - myopia - hearing loss - intellectual deficit - facial dysmorphism xref: ICD10:Q87.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:91135 name: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency xref: ICD10:D68.4 xref: OMIM:610842 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:228215 ! Genetic dermis elastic tissue disorder property_value: alternative:term "Pseudoxanthoma elasticum-like syndrome" xsd:string property_value: alternative:term "PXE-like syndrome" xsd:string [Term] id: Orphanet:91136 name: Monoclonal Ig light chain-associated Fanconi syndrome xref: ICD10:E72.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93614 ! Hematological disorder with renal involvement property_value: alternative:term "Kappa light chain-associated Fanconi syndrome" xsd:string property_value: alternative:term "Monoclonal kappa Ig light chain-associated Fanconi syndrome" xsd:string property_value: alternative:term "Myeloma-associated Fanconi syndrome" xsd:string [Term] id: Orphanet:91137 name: Immunotactoid or fibrillary glomerulopathy xref: ICD10:N03.6 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "Immunotactoid or fibrillary glomerulonephritis" xsd:string [Term] id: Orphanet:91138 name: Cryoglobulinemic vasculitis xref: ICD10:D89.1 xref: OMIM:123550 xref: UMLS:C0543697 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:156149 ! Immune complex mediated vasculitis relationship: part_of Orphanet:209007 ! Systemic inflammatory disease associated with an acquired peripheral neuropathy relationship: part_of Orphanet:264973 ! Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "Essential cryoglobulinemia" xsd:string property_value: alternative:term "Essential mixed cryoglobulinemia" xsd:string property_value: alternative:term "MC" xsd:string property_value: alternative:term "Mixed cryoglobulinemia" xsd:string property_value: alternative:term "Primary cryoglobulinemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia." xsd:string [Term] id: Orphanet:91139 name: Simple cryoglobulinemia xref: ICD10:D89.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:209007 ! Systemic inflammatory disease associated with an acquired peripheral neuropathy relationship: part_of Orphanet:209010 ! Peripheral neuropathy associated with monoclonal gammopathy relationship: part_of Orphanet:248365 ! Rare thrombotic disorder due to an acquired coagulation factors defect property_value: alternative:term "Cryoglobulinemia type 1" xsd:string [Term] id: Orphanet:91140 name: Unclassified juvenile idiopathic arthritis xref: ICD10:M08.8 is_a: Orphanet:92 ! Juvenile idiopathic arthritis [Term] id: Orphanet:91144 name: 46,XX disorder of sex development induced by maternal-derived androgen xref: ICD10:Q56.2 is_a: Orphanet:98078 ! 46,XX disorder of sex development induced by androgens excess property_value: alternative:term "46,XX DSD induced by maternal-derived androgen" xsd:string [Term] id: Orphanet:912 name: Zellweger syndrome xref: ICD10:Q87.8 xref: MESH:D015211 xref: OMIM:214100 xref: OMIM:214110 xref: OMIM:614859 xref: OMIM:614862 xref: OMIM:614866 xref: OMIM:614870 xref: OMIM:614872 xref: OMIM:614876 xref: OMIM:614882 xref: OMIM:614883 xref: OMIM:614886 xref: OMIM:614887 xref: SNOMED CT:88469006 xref: UMLS:C0043459 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139009 ! Developmental anomaly of metabolic origin relationship: part_of Orphanet:225686 ! Peroxisomal disease with epilepsy relationship: part_of Orphanet:79189 ! Peroxisome biogenesis disorder-Zellweger syndrome spectrum relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease relationship: part_of Orphanet:98650 ! Craniofacial anomaly with cataract relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy relationship: part_of Orphanet:98712 ! Metabolic disease with cataract relationship: part_of Orphanet:98713 ! Metabolic disease with pigmentary retinitis property_value: alternative:term "Cerebrohepatorenal syndrome" xsd:string property_value: alternative:term "ZS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction." xsd:string [Term] id: Orphanet:913 name: Zollinger-Ellison syndrome xref: ICD10:E16.4 xref: MEDDRA:10017852 xref: MESH:D015043 xref: MESH:D015408 xref: SNOMED CT:16189002 xref: SNOMED CT:302824004 xref: SNOMED CT:53132006 xref: UMLS:C0017150 xref: UMLS:C0043515 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:100076 ! Duodenal endocrine tumor relationship: part_of Orphanet:97253 ! Pancreatic endocrine tumor property_value: alternative:term "Gastrinoma" xsd:string [Term] id: Orphanet:91347 name: TSH-secreting pituitary adenoma xref: ICD10:D35.2 xref: SNOMED CT:254959007 xref: UMLS:C0346303 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:314753 ! Functioning pituitary adenoma property_value: alternative:term "Pituitary thyrotrophic adenoma" xsd:string property_value: alternative:term "Thyroid stimulating hormone-secreting pituitary adenoma" xsd:string property_value: alternative:term "Thyrotroph adenoma" xsd:string property_value: alternative:term "TSH-oma" xsd:string [Term] id: Orphanet:91348 name: Functioning gonadotroph adenoma xref: ICD10:D35.2 xref: SNOMED CT:254960002 xref: UMLS:C0346304 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:314753 ! Functioning pituitary adenoma property_value: alternative:term "Functioning pituitary gonadotrophic adenoma" xsd:string [Term] id: Orphanet:91349 name: Non-functioning pituitary adenoma xref: ICD10:D35.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:99408 ! Pituitary adenoma property_value: alternative:term "NFPA" xsd:string [Term] id: Orphanet:91350 name: Pituitary deficiency due to Rathke's pouch cysts xref: ICD10:E23.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:95503 ! Pituitary hormone deficiency from tumoral origin [Term] id: Orphanet:91351 name: Pituitary dermoid and epidermoid cysts xref: OMIM:131600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100091 ! Adrenal/paraganglial tumor relationship: part_of Orphanet:95503 ! Pituitary hormone deficiency from tumoral origin [Term] id: Orphanet:91352 name: Germinoma of the central nervous system is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: part_of Orphanet:182127 ! Extragonadal germinoma relationship: part_of Orphanet:251995 ! Primary germ cell tumor of the central nervous system relationship: part_of Orphanet:95503 ! Pituitary hormone deficiency from tumoral origin property_value: alternative:term "Intracranial germinoma" xsd:string [Term] id: Orphanet:91353 name: Choristoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:95503 ! Pituitary hormone deficiency from tumoral origin relationship: part_of Orphanet:98057 ! Rare tumor [Term] id: Orphanet:91354 name: Pituitary deficiency due to empty sella turcica syndrome xref: ICD10:E23.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:95505 ! Pituitary hormone deficiency from meningeal origin property_value: alternative:term "Hypopituitarism due to empty sella turcica syndrome" xsd:string [Term] id: Orphanet:91355 name: Sheehan syndrome xref: ICD10:E23.0 xref: MEDDRA:10036297 xref: SNOMED CT:237684005 xref: SNOMED CT:290653008 xref: UMLS:C0242342 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:95611 ! Pituitary hormone defiency from vascular origin [Term] id: Orphanet:91357 name: Duplication of the esophagus xref: ICD10:Q39.8 is_a: Orphanet:108959 ! Nonsyndromic esophageal malformation [Term] id: Orphanet:91358 name: Congenital esophageal diverticulum xref: ICD10:Q39.6 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:108959 ! Nonsyndromic esophageal malformation [Term] id: Orphanet:91359 name: Chronic pneumonitis of infancy xref: ICD10:J84.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:264694 ! Interstitial lung disease specific to infancy property_value: alternative:term "CPI" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD, see this term)." xsd:string [Term] id: Orphanet:91364 name: Non-specific interstitial pneumonia xref: ICD10:J84.8 xref: SNOMED CT:129452008 xref: UMLS:C1290344 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98300 ! Idiopathic interstitial pneumonia property_value: alternative:term "Non-specific idiopathic interstitial pneumonia" xsd:string property_value: alternative:term "NSIP" xsd:string [Term] id: Orphanet:91365 name: Secondary ciliary dyskinesia xref: ICD10:J98.0 xref: SNOMED CT:233669000 xref: UMLS:C0340040 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101944 ! Rare pulmonary disease property_value: alternative:term "Acquired ciliary dyskinesia" xsd:string property_value: alternative:term "SCD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Secondary ciliary dyskinesia is a pulmonary disease due to lung ciliated cells defects caused by lung injuries such as respiratory infections. It results in altered mucociliary transport in the respiratory tract and is characterized by recurrent upper and lower respiratory infections manifesting by chronic productive cough, chronic rhinosinusitis, persistent otitis media, bronchiectasis." xsd:string [Term] id: Orphanet:91378 name: Hereditary angioedema xref: ICD10:D84.1 xref: MEDDRA:10019860 xref: OMIM:106100 xref: OMIM:610618 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:658 ! Non-histaminic angioedema relationship: part_of Orphanet:98053 ! Rare genetic disease property_value: alternative:term "Familial angioneurotic edema" xsd:string property_value: alternative:term "HAE" xsd:string property_value: alternative:term "Hereditary angioneurotic edema" xsd:string property_value: alternative:term "Hereditary bradykinine-induced angioedema" xsd:string property_value: alternative:term "Hereditary non histamine-induced angioedema" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain." xsd:string [Term] id: Orphanet:91385 name: Acquired angioedema xref: ICD10:T78.3 xref: MESH:C538173 xref: OMIM:300909 xref: UMLS:C2931758 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:658 ! Non-histaminic angioedema property_value: alternative:term "AAE" xsd:string property_value: alternative:term "Acquired angioneurotic edema" xsd:string property_value: alternative:term "Acquired bradykinine-induced angioedema" xsd:string property_value: alternative:term "Acquired C1 inhibitor deficiency" xsd:string property_value: alternative:term "Acquired non histamine-induced angioedema" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency." xsd:string [Term] id: Orphanet:91387 name: Familial thoracic aortic aneurysm and aortic dissection xref: ICD10:I71.1 xref: ICD10:I71.2 xref: OMIM:132900 xref: OMIM:607086 xref: OMIM:607087 xref: OMIM:608967 xref: OMIM:611788 xref: OMIM:613780 xref: OMIM:614816 xref: OMIM:615436 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:284993 ! Marfan and Marfan-related disorder relationship: part_of Orphanet:285014 ! Rare disease with thoracic aortic aneurysm and aortic dissection property_value: alternative:term "Familial TAAD" xsd:string [Term] id: Orphanet:91396 name: Isolated cryptophthalmia xref: ICD10:Q11.2 xref: OMIM:123570 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: part_of Orphanet:98562 ! Cryptophthalmia [Term] id: Orphanet:91397 name: Isolated ankyloblepharon filiforme adnatum xref: ICD10:Q10.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: part_of Orphanet:156237 ! Syndrome or malformation associated with head and neck malformations relationship: part_of Orphanet:98564 ! Eyelid border anomaly [Term] id: Orphanet:91411 name: Congenital ptosis xref: ICD10:Q10.0 xref: MEDDRA:10015996 xref: OMIM:178300 xref: OMIM:300245 xref: SNOMED CT:268163008 xref: UMLS:C0266573 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98578 ! Ptosis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital ptosis is characterized by superior eyelid drop present at birth." xsd:string [Term] id: Orphanet:91412 name: Marcus-Gunn syndrome xref: ICD10:Q07.8 xref: MEDDRA:10064583 xref: OMIM:154600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98578 ! Ptosis property_value: alternative:term "Jaw-winking syndrome" xsd:string property_value: alternative:term "Mandibulo-palpebral synkinesis - ptosis" xsd:string property_value: alternative:term "Marcus-Gunn phenomenon" xsd:string [Term] id: Orphanet:91413 name: Congenital Horner syndrome xref: ICD10:G90.2 xref: OMIM:143000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98578 ! Ptosis property_value: alternative:term "Congenital Claude-Bernard-Horner syndrome" xsd:string [Term] id: Orphanet:91414 name: Pilomatrixoma xref: ICD10:D23 xref: MEDDRA:10035040 xref: MESH:D018296 xref: OMIM:132600 xref: SNOMED CT:274901004 xref: SNOMED CT:44155009 xref: UMLS:C0206711 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:79386 ! Rare skin tumor or hamartoma property_value: alternative:term "Epithelioma calcificans of Malherbe" xsd:string property_value: alternative:term "Pilomatricoma" xsd:string [Term] id: Orphanet:91415 name: Familial capillary hemangioma xref: ICD10:D18.0 xref: OMIM:602089 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:211237 ! Vascular tumor relationship: part_of Orphanet:98592 ! Palpebral tumor with a vascular malformation [Term] id: Orphanet:91416 name: Isolated congenital alacrima xref: ICD10:Q10.6 xref: OMIM:103420 xref: OMIM:601549 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98604 ! Congenital alacrima [Term] id: Orphanet:91481 name: Ring dermoid of cornea xref: ICD10:D31.1 xref: MESH:C535684 xref: OMIM:180550 xref: UMLS:C1867155 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101950 ! Rare eye tumor property_value: alternative:term "Ring dermoid syndrome" xsd:string [Term] id: Orphanet:91483 name: Rieger anomaly xref: ICD10:Q13.8 xref: OMIM:137600 xref: OMIM:601631 xref: OMIM:602482 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: part_of Orphanet:98634 ! Iridogoniodysgenesis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of Axenfeld’s anomaly (see this term)." xsd:string [Term] id: Orphanet:91489 name: Isolated congenital megalocornea xref: ICD10:Q15.8 xref: OMIM:249300 xref: OMIM:309300 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: part_of Orphanet:98635 ! Corneogoniodysgenesis property_value: alternative:term "Congenital anterior megalophthalmia" xsd:string [Term] id: Orphanet:91490 name: Isolated congenital sclerocornea xref: ICD10:Q13.3 xref: OMIM:181700 xref: OMIM:269400 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: part_of Orphanet:98635 ! Corneogoniodysgenesis [Term] id: Orphanet:91491 name: Congenital ectropion uveae xref: ICD10:Q10.1 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: part_of Orphanet:98634 ! Iridogoniodysgenesis [Term] id: Orphanet:91492 name: Non-syndromic congenital cataract xref: ICD10:Q12.0 xref: OMIM:115650 xref: OMIM:115665 xref: OMIM:115700 xref: OMIM:115800 xref: OMIM:115900 xref: OMIM:116100 xref: OMIM:116200 xref: OMIM:116300 xref: OMIM:116400 xref: OMIM:116600 xref: OMIM:116700 xref: OMIM:116800 xref: OMIM:212500 xref: OMIM:302200 xref: OMIM:600881 xref: OMIM:601202 xref: OMIM:601371 xref: OMIM:601547 xref: OMIM:601885 xref: OMIM:604219 xref: OMIM:604307 xref: OMIM:605387 xref: OMIM:605728 xref: OMIM:605749 xref: OMIM:607304 xref: OMIM:609376 xref: OMIM:609741 xref: OMIM:610019 xref: OMIM:610202 xref: OMIM:610425 xref: OMIM:610623 xref: OMIM:611544 xref: OMIM:611597 xref: OMIM:612968 xref: OMIM:613763 xref: OMIM:614691 xref: OMIM:615188 xref: OMIM:615274 xref: OMIM:615277 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:108985 ! Nonsyndromic developmental defect of the eye relationship: part_of Orphanet:217049 ! Rare non-syndromic cataract [Term] id: Orphanet:91494 name: Macular coloboma - cleft palate - hallux valgus xref: ICD10:Q87.8 xref: OMIM:216800 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:98665 ! Colobomatous and areolar dystrophy [Term] id: Orphanet:91495 name: Persistent hyperplastic primary vitreous xref: ICD10:Q14.0 xref: MESH:D054514 xref: OMIM:611308 xref: OMIM:611311 xref: SNOMED CT:314270008 xref: SNOMED CT:44647001 xref: UMLS:C0266568 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98641 ! Syndromic cataract relationship: part_of Orphanet:98669 ! Congenital vitreoretinal dysplasia property_value: alternative:term "Persistent fetal vasculature syndrome" xsd:string property_value: alternative:term "PFVS" xsd:string property_value: alternative:term "PHPV" xsd:string [Term] id: Orphanet:91496 name: Snowflake vitreoretinal degeneration xref: ICD10:H35.5 xref: MESH:C536677 xref: OMIM:193230 xref: UMLS:C1860405 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98670 ! Vitreoretinal degeneration [Term] id: Orphanet:91498 name: Familial congenital palsy of trochlear nerve xref: ICD10:H49.1 xref: OMIM:136480 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98686 ! Congenital trochlear nerve palsy [Term] id: Orphanet:915 name: Aarskog-Scott syndrome xref: ICD10:Q87.1 xref: MEDDRA:10067148 xref: OMIM:100050 xref: OMIM:305400 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:139021 ! Malformation syndrome with short stature relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:183570 ! Genetic malformation syndrome with short stature relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:89832 ! Syndromic lymphedema relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Aarskog syndrome" xsd:string property_value: alternative:term "Faciodigitogenital syndrome" xsd:string property_value: alternative:term "Faciogenital dysplasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." xsd:string [Term] id: Orphanet:91500 name: Tubulointerstitial nephritis and uveitis syndrome xref: ICD10:N10 xref: MEDDRA:10069034 xref: MEDDRA:10069039 xref: MESH:C536922 xref: OMIM:607665 xref: SNOMED CT:418839003 xref: UMLS:C1639520 xref: UMLS:C2609298 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:280926 ! Systemic diseases with anterior uveitis relationship: part_of Orphanet:93603 ! Rare renal tubular disease property_value: alternative:term "Acute tubulointerstitial nephritis and uveitis syndrome" xsd:string property_value: alternative:term "TINU syndrome" xsd:string [Term] id: Orphanet:91546 name: Lyme disease xref: ICD10:A69.2 xref: MEDDRA:10025169 xref: MESH:D008193 xref: SNOMED CT:23502006 xref: UMLS:C0024198 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease relationship: part_of Orphanet:206613 ! Infectious disease with peripheral neuropathy property_value: alternative:term "Lyme borreliosis" xsd:string [Term] id: Orphanet:91547 name: Relapsing fever xref: ICD10:A68 xref: MEDDRA:10038300 xref: MESH:D012061 xref: SNOMED CT:420079008 xref: UMLS:C0035021 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:163582 ! Rare bacterial infectious disease [Term] id: Orphanet:916 name: Aase-Smith syndrome xref: ICD10:Q87.8 xref: MEDDRA:10063429 xref: MESH:C535332 xref: OMIM:147800 xref: UMLS:C0220686 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:269546 ! Syndrome with a Dandy-Walker malformation as major feature relationship: part_of Orphanet:269570 ! Genetic syndrome with a Dandy-Walker malformation as major feature relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Aase-Smith I syndrome" xsd:string property_value: alternative:term "Hydrocephalus - cleft palate - joint contractures" xsd:string [Term] id: Orphanet:918 name: ABCD syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_897 with label: Waardenburg-Shah syndrome" xsd:string [Term] id: Orphanet:92 name: Juvenile idiopathic arthritis xref: ICD10:M08 xref: MEDDRA:10059177 xref: MESH:D001171 xref: SNOMED CT:239796000 xref: SNOMED CT:410502007 xref: SNOMED CT:410793008 xref: SNOMED CT:410795001 xref: UMLS:C0553662 xref: UMLS:C1444838 is_a: Orphanet:182231 ! Rare rheumatologic disease is_a: Orphanet:264704 ! Secondary interstitial lung disease specific to childhood associated with a connective tissue disease property_value: alternative:term "Juvenile chronic arthritis" xsd:string property_value: alternative:term "Juvenile rheumatoid arthritis" xsd:string [Term] id: Orphanet:920 name: Ablepharon macrostomia syndrome xref: ICD10:Q87.0 xref: MESH:C535557 xref: OMIM:200110 xref: UMLS:C1860224 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:98563 ! Microblepharon - ablephara [Term] id: Orphanet:92050 name: Intestinal epithelial dysplasia xref: ICD10:P78.3 xref: OMIM:613217 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:104007 ! Congenital enteropathy involving intestinal mucosa development relationship: part_of Orphanet:363300 ! Genetic intractable diarrhea of infancy relationship: part_of Orphanet:73014 ! Intractable diarrhea of infancy property_value: alternative:term "Congenital familial intractable diarrhea with epithelial or epithelium abnormalities" xsd:string property_value: alternative:term "IED" xsd:string property_value: alternative:term "Tufting enteropathy" xsd:string [Term] id: Orphanet:921 name: Abruzzo-Erickson syndrome xref: ICD10:Q87.8 xref: MESH:C535559 xref: OMIM:302905 xref: UMLS:C1844862 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139039 ! Orofacial clefting syndrome relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Cleft palate - coloboma - deafness" xsd:string [Term] id: Orphanet:922 name: Familial nasal acilia xref: ICD10:Q30.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98036 ! Rare otorhinolaryngologic disease [Term] id: Orphanet:924 name: Acanthosis nigricans xref: ICD10:L83 xref: MEDDRA:10000350 xref: MESH:D000052 xref: OMIM:100600 xref: SNOMED CT:402599005 xref: UMLS:C0000889 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:79359 ! Other epidermis disorder relationship: part_of Orphanet:79360 ! Other genetic epidermal disease [Term] id: Orphanet:926 name: Acatalasemia xref: ICD10:E80.3 xref: OMIM:614097 xref: SNOMED CT:267454002 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:309810 ! Disorder of peroxisomal alpha-, beta- and omega-oxidation property_value: alternative:term "Catalase deficiency" xsd:string [Term] id: Orphanet:927 name: Hyperammonemia due to N-acetylglutamate synthetase deficiency xref: ICD10:E72.2 xref: OMIM:237310 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79167 ! Disorder of urea cycle metabolism and ammonia detoxification property_value: alternative:term "NAGS deficiency" xsd:string [Term] id: Orphanet:929 name: Achalasia - microcephaly xref: ICD10:Q39.5 xref: MESH:C536010 xref: OMIM:200450 xref: UMLS:C1860212 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108961 ! Syndromic esophageal malformation relationship: part_of Orphanet:371445 ! Genetic syndromic esophageal malformation [Term] id: Orphanet:93 name: Aspartylglucosaminuria xref: ICD10:E77.1 xref: MEDDRA:10068220 xref: MESH:C538402 xref: MESH:D054880 xref: OMIM:208400 xref: SNOMED CT:54954004 xref: UMLS:C0268225 xref: UMLS:C2931840 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139009 ! Developmental anomaly of metabolic origin relationship: part_of Orphanet:225681 ! Lysosomal disease with epilepsy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:79215 ! Oligosaccharidosis relationship: part_of Orphanet:93448 ! Lysosomal storage disease with skeletal involvement property_value: alternative:term "Aspartylglucosaminidase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis)." xsd:string [Term] id: Orphanet:930 name: Idiopathic achalasia xref: ICD10:K22.0 xref: MEDDRA:10036669 xref: MESH:C536011 xref: OMIM:200400 xref: UMLS:C0859976 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:101936 ! Rare gastro-esophageal disease property_value: alternative:term "Primary achalasia" xsd:string [Term] id: Orphanet:931 name: Acheiropodia xref: ICD10:Q74.8 xref: MESH:C536014 xref: OMIM:200500 xref: SNOMED CT:177504007 xref: UMLS:C0265559 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294929 ! Terminal limb defects property_value: alternative:term "Acheiropody" xsd:string [Term] id: Orphanet:93100 name: Unilateral renal agenesis xref: ICD10:Q60.0 xref: MEDDRA:10053624 xref: SNOMED CT:55726006 xref: UMLS:C0266294 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:357506 ! Genetic nonsyndromic renal or urinary tract malformation relationship: part_of Orphanet:93546 ! Nonsyndromic renal or urinary tract malformation [Term] id: Orphanet:93101 name: Renal hypoplasia xref: ICD10:Q60.3 xref: ICD10:Q60.4 xref: ICD10:Q60.5 xref: MEDDRA:10049102 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:357506 ! Genetic nonsyndromic renal or urinary tract malformation relationship: part_of Orphanet:93546 ! Nonsyndromic renal or urinary tract malformation [Term] id: Orphanet:93108 name: Renal dysplasia xref: ICD10:Q61.4 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:357506 ! Genetic nonsyndromic renal or urinary tract malformation relationship: part_of Orphanet:93546 ! Nonsyndromic renal or urinary tract malformation [Term] id: Orphanet:93109 name: Congenital megacalycosis xref: ICD10:Q63.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93546 ! Nonsyndromic renal or urinary tract malformation [Term] id: Orphanet:93110 name: Posterior urethral valve xref: ICD10:Q64.2 xref: SNOMED CT:253900005 xref: UMLS:C0238506 xref: UMLS:C0542520 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:182124 ! Nonsyndromic urogenital tract malformation of male and female relationship: part_of Orphanet:357506 ! Genetic nonsyndromic renal or urinary tract malformation relationship: part_of Orphanet:93546 ! Nonsyndromic renal or urinary tract malformation [Term] id: Orphanet:93111 name: Renal cysts and diabetes syndrome xref: ICD10:E11.2 xref: OMIM:137920 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:181376 ! Rare insulin-independent diabetes mellitus relationship: part_of Orphanet:183625 ! Rare genetic diabetes mellitus relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "MODY5" xsd:string property_value: alternative:term "RCAD syndrome" xsd:string property_value: alternative:term "Renal cysts - maturity-onset diabetes of the young" xsd:string property_value: alternative:term "Renal dysfunction - early-onset diabetes" xsd:string [Term] id: Orphanet:93114 name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type E xref: ICD10:G60.0 xref: ICD10:N04.1 xref: OMIM:614455 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102373 ! Primary glomerular disease relationship: part_of Orphanet:90114 ! Autosomal dominant intermediate Charcot-Marie-Tooth disease property_value: alternative:term "Charcot-Marie-Tooth disease - nephropathy" xsd:string property_value: alternative:term "CMTDIE" xsd:string [Term] id: Orphanet:93126 name: Pauci-immune glomerulonephritis xref: ICD10:N05.7 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:93551 ! Secondary glomerular disease [Term] id: Orphanet:93160 name: Hypocalcemic vitamin D-resistant rickets xref: ICD10:E83.3 xref: OMIM:277440 xref: OMIM:600785 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:289103 ! Hypocalcemic rickets property_value: alternative:term "Hereditary vitamin D-resistant rickets" xsd:string property_value: alternative:term "HVDRR" xsd:string property_value: alternative:term "VDDR II" xsd:string property_value: alternative:term "VDRR II" xsd:string property_value: alternative:term "Vitamin D-dependent rickets type II" xsd:string property_value: alternative:term "Vitamin D-resistant rickets type II" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia." xsd:string [Term] id: Orphanet:93164 name: Transient pseudohypoaldosteronism xref: ICD10:N15.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:93603 ! Rare renal tubular disease property_value: alternative:term "TPHA" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Transient pseudohypoaldosteronism describes a state of renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants." xsd:string [Term] id: Orphanet:93172 name: Unilateral renal dysplasia xref: ICD10:Q61.4 xref: SNOMED CT:204951002 xref: UMLS:C0431697 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93108 ! Renal dysplasia [Term] id: Orphanet:93173 name: Bilateral renal dysplasia xref: ICD10:Q61.4 xref: SNOMED CT:204950001 xref: UMLS:C0431698 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93108 ! Renal dysplasia [Term] id: Orphanet:93176 name: Unilateral congenital megacalycosis xref: ICD10:Q63.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93109 ! Congenital megacalycosis [Term] id: Orphanet:93177 name: Congenital bilateral megacalycosis xref: ICD10:Q63.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93109 ! Congenital megacalycosis [Term] id: Orphanet:93178 name: Partial prune belly syndrome xref: ICD10:Q79.4 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:2970 ! Prune belly syndrome [Term] id: Orphanet:932 name: Achondrogenesis xref: ICD10:Q77.0 xref: MEDDRA:10066122 xref: OMIM:200600 xref: OMIM:200610 xref: OMIM:600972 xref: SNOMED CT:2391001 xref: UMLS:C0001079 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:93434 ! Spondylodysplastic dysplasia [Term] id: Orphanet:93206 name: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis xref: ICD10:N04.1 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:69061 ! Idiopathic steroid-sensitive nephrotic syndrome property_value: alternative:term "Idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis" xsd:string [Term] id: Orphanet:93207 name: Idiopathic steroid-sensitive nephrotic syndrome with minimal change xref: ICD10:N04.0 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:69061 ! Idiopathic steroid-sensitive nephrotic syndrome property_value: alternative:term "Steroid-sensitive MCNS" xsd:string [Term] id: Orphanet:93209 name: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation xref: ICD10:N04.3 is_a: Orphanet:69061 ! Idiopathic steroid-sensitive nephrotic syndrome relationship: Orphanet:C017 Orphanet:108942 ! Childhood [Term] id: Orphanet:93213 name: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis xref: ICD10:N04.1 xref: OMIM:256370 xref: OMIM:600995 xref: OMIM:603278 xref: OMIM:603965 xref: OMIM:607832 xref: OMIM:610725 xref: OMIM:612551 xref: OMIM:613237 xref: OMIM:614131 xref: OMIM:614196 xref: OMIM:615573 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:656 ! Familial idiopathic steroid-resistant nephrotic syndrome property_value: alternative:term "Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis" xsd:string [Term] id: Orphanet:93214 name: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation xref: ICD10:N04.3 xref: OMIM:614196 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:656 ! Familial idiopathic steroid-resistant nephrotic syndrome [Term] id: Orphanet:93216 name: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes xref: ICD10:N04.0 xref: OMIM:600995 xref: OMIM:614196 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:656 ! Familial idiopathic steroid-resistant nephrotic syndrome [Term] id: Orphanet:93217 name: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis xref: ICD10:N04.8 xref: OMIM:256370 xref: OMIM:610725 xref: OMIM:614196 xref: OMIM:615244 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:656 ! Familial idiopathic steroid-resistant nephrotic syndrome [Term] id: Orphanet:93218 name: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis xref: ICD10:N04.1 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:84271 ! Sporadic idiopathic steroid-resistant nephrotic syndrome property_value: alternative:term "Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis" xsd:string [Term] id: Orphanet:93220 name: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis xref: ICD10:N04.8 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:84271 ! Sporadic idiopathic steroid-resistant nephrotic syndrome [Term] id: Orphanet:93221 name: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes xref: ICD10:N04.0 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:84271 ! Sporadic idiopathic steroid-resistant nephrotic syndrome [Term] id: Orphanet:93222 name: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation xref: ICD10:N04.3 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: part_of Orphanet:84271 ! Sporadic idiopathic steroid-resistant nephrotic syndrome [Term] id: Orphanet:93256 name: Fragile X-associated tremor/ataxia syndrome xref: ICD10:G11.2 xref: OMIM:300623 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:247765 ! X-linked cerebellar ataxia relationship: part_of Orphanet:306712 ! Rare tremor disorder relationship: part_of Orphanet:307061 ! Rare genetic tremor disorder property_value: alternative:term "FXTAS syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia." xsd:string [Term] id: Orphanet:93258 name: Pfeiffer syndrome type 1 xref: ICD10:Q87.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:710 ! Pfeiffer syndrome property_value: alternative:term "Classic Pfeiffer syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pfeiffer syndrome type 1 (PS1) is an infrequent type of Pfeiffer syndrome (see this term) with mild to moderate severity and is characterized by bicoronal craniosynostosis, variable finger and toe malformations, and usually normal intellectual development." xsd:string [Term] id: Orphanet:93259 name: Pfeiffer syndrome type 2 xref: ICD10:Q87.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:710 ! Pfeiffer syndrome property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pfeiffer syndrome type 2 (PS2) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities." xsd:string [Term] id: Orphanet:93260 name: Pfeiffer syndrome type 3 xref: ICD10:Q87.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:710 ! Pfeiffer syndrome property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pfeiffer syndrome type 3 (PS3) is a frequent severe type of Pfeiffer syndrome (see this term) and is characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities." xsd:string [Term] id: Orphanet:93262 name: Crouzon syndrome - acanthosis nigricans xref: ICD10:Q75.1 xref: OMIM:612247 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:98684 ! Craniostenosis associated with a strabismus property_value: alternative:term "Crouzono-dermoskeletal syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically severe form of Crouzon syndrome (see this term) with premature synostosis of cranial sutures associated with acanthosis nigricans." xsd:string [Term] id: Orphanet:93267 name: Cloverleaf skull - multiple congenital anomalies xref: ICD10:Q87.8 xref: OMIM:607161 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis [Term] id: Orphanet:93268 name: Short rib-polydactyly syndrome, Beemer-Langer type xref: ICD10:Q77.2 xref: OMIM:269860 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:1505 ! Short rib-polydactyly syndrome property_value: alternative:term "Short rib-polydactyly syndrome type 4" xsd:string [Term] id: Orphanet:93269 name: Short rib-polydactyly syndrome, Majewski type xref: ICD10:Q77.2 xref: OMIM:263520 xref: OMIM:615087 xref: SNOMED CT:72922008 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:1505 ! Short rib-polydactyly syndrome property_value: alternative:term "Short rib-polydactyly syndrome type 2" xsd:string [Term] id: Orphanet:93270 name: Short rib-polydactyly syndrome, Saldino-Noonan type xref: ICD10:Q77.2 xref: OMIM:263530 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:1505 ! Short rib-polydactyly syndrome property_value: alternative:term "Short rib-polydactyly syndrome type 1" xsd:string [Term] id: Orphanet:93271 name: Short rib-polydactyly syndrome, Verma-Naumoff type xref: ICD10:Q77.2 xref: MESH:C537602 xref: OMIM:263510 xref: OMIM:614091 xref: OMIM:615503 xref: SNOMED CT:254051008 xref: UMLS:C0432197 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:1505 ! Short rib-polydactyly syndrome property_value: alternative:term "Short rib-polydactyly syndrome type 3" xsd:string [Term] id: Orphanet:93274 name: Thanatophoric dysplasia type 2 xref: ICD10:Q77.1 xref: OMIM:156830 xref: OMIM:187601 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2655 ! Thanatophoric dysplasia property_value: alternative:term "Cloverleaf skull - micromelic bone dysplasia" xsd:string property_value: alternative:term "TD2" xsd:string property_value: alternative:term "Thanatophoric dwarfism - cloverleaf skull" xsd:string property_value: alternative:term "Thanatophoric dwarfism type 2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition ")." xsd:string [Term] id: Orphanet:93275 name: Thanatophoric dysplasia, Glasgow variant is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_175 with label: Cartilage-hair hypoplasia" xsd:string [Term] id: Orphanet:93276 name: Polyostotic fibrous dysplasia xref: ICD10:Q78.1 xref: MEDDRA:10036120 xref: MESH:D005359 xref: OMIM:174800 xref: SNOMED CT:36517007 xref: UMLS:C0016065 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:249 ! Fibrous dysplasia of bone property_value: alternative:term "Jaffe-Lichtenstein disease" xsd:string [Term] id: Orphanet:93277 name: Monostotic fibrous dysplasia xref: ICD10:Q78.1 xref: MESH:D005358 xref: SNOMED CT:89859004 xref: UMLS:C0016064 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:249 ! Fibrous dysplasia of bone [Term] id: Orphanet:93279 name: Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis xref: ICD10:Q77.7 xref: OMIM:604864 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:93421 ! Type 2 collagen-related bone disorder [Term] id: Orphanet:93280 name: Spondyloepiphyseal dysplasia, Omani type is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_263463 with label: CHST3-related skeletal dysplasia" xsd:string [Term] id: Orphanet:93282 name: Spondyloepimetaphyseal dysplasia, Pakistani type xref: ICD10:Q77.7 xref: OMIM:612847 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:93423 ! Sulfation-related bone disorder [Term] id: Orphanet:93283 name: Spondyloepiphyseal dysplasia, Kimberley type xref: ICD10:Q77.7 xref: OMIM:608361 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:364817 ! Aggrecan-related bone disorder [Term] id: Orphanet:93284 name: Spondyloepiphyseal dysplasia tarda xref: ICD10:Q77.7 xref: OMIM:184100 xref: OMIM:271600 xref: OMIM:313400 xref: SNOMED CT:51952004 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia [Term] id: Orphanet:93292 name: Pancreatic adenoma xref: ICD10:D13.6 xref: MEDDRA:10058902 xref: MESH:C538110 xref: OMIM:147630 xref: UMLS:C1142432 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:165711 ! Rare abdominal surgical disease [Term] id: Orphanet:93293 name: Okihiro syndrome xref: ICD10:Q87.8 xref: OMIM:607323 xref: UMLS:C1623209 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:98683 ! Syndrome with a symptomatic strabismus property_value: alternative:term "Duane-radial ray syndrome" xsd:string [Term] id: Orphanet:93296 name: Achondrogenesis type 2 xref: ICD10:Q77.0 xref: MESH:C536017 xref: OMIM:200610 xref: SNOMED CT:254061001 xref: UMLS:C0220685 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:932 ! Achondrogenesis relationship: part_of Orphanet:93421 ! Type 2 collagen-related bone disorder property_value: alternative:term "Achondrogenesis, Langer-Saldino type" xsd:string [Term] id: Orphanet:93297 name: Hypochondrogenesis xref: ICD10:Q77.0 xref: OMIM:200610 xref: SNOMED CT:205483007 xref: UMLS:C0542428 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:932 ! Achondrogenesis relationship: part_of Orphanet:93421 ! Type 2 collagen-related bone disorder [Term] id: Orphanet:93298 name: Achondrogenesis type 1B xref: ICD10:Q77.0 xref: OMIM:600972 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:932 ! Achondrogenesis relationship: part_of Orphanet:93423 ! Sulfation-related bone disorder property_value: alternative:term "Achondrogenesis, Parenti-Fraccaro type" xsd:string [Term] id: Orphanet:93299 name: Achondrogenesis type 1A xref: ICD10:Q77.0 xref: MESH:C536015 xref: OMIM:200600 xref: SNOMED CT:42725006 xref: UMLS:C0265273 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:932 ! Achondrogenesis property_value: alternative:term "Achondrogenesis, Houston-Harris type" xsd:string [Term] id: Orphanet:93301 name: Brachyolmia type 1, Hobaek type xref: ICD10:Q76.3 xref: OMIM:271530 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:1293 ! Brachyolmia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities." xsd:string [Term] id: Orphanet:93302 name: Brachyolmia, Maroteaux type xref: ICD10:Q76.3 xref: OMIM:613678 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:1293 ! Brachyolmia property_value: alternative:term "Brachyolmia type 2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Brachyolmia, type 2 (Maroteaux type) is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized byshort trunk/short stature, generalized platyspondyly and rounding vertebral bodies." xsd:string [Term] id: Orphanet:93303 name: Brachyolmia type 1, Toledo type xref: ICD10:Q76.3 xref: OMIM:271630 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:1293 ! Brachyolmia relationship: part_of Orphanet:93423 ! Sulfation-related bone disorder property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities." xsd:string [Term] id: Orphanet:93304 name: Autosomal dominant brachyolmia xref: ICD10:Q76.3 xref: OMIM:113500 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:1293 ! Brachyolmia relationship: part_of Orphanet:364820 ! TRPV4-related bone disorder property_value: alternative:term "Brachyolmia type 3" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis." xsd:string [Term] id: Orphanet:93307 name: Multiple epiphyseal dysplasia type 4 xref: ICD10:Q77.3 xref: MESH:C535504 xref: OMIM:226900 xref: UMLS:C1847593 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:251 ! Multiple epiphyseal dysplasia relationship: part_of Orphanet:93423 ! Sulfation-related bone disorder property_value: alternative:term "Autosomal recessive multiple epiphyseal dysplasia" xsd:string property_value: alternative:term "EDM4" xsd:string property_value: alternative:term "MED4" xsd:string property_value: alternative:term "Polyepiphyseal dysplasia type 4" xsd:string property_value: alternative:term "rMED" xsd:string [Term] id: Orphanet:93308 name: Multiple epiphyseal dysplasia type 1 xref: ICD10:Q77.3 xref: MESH:C535501 xref: OMIM:132400 xref: UMLS:C1838280 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:251 ! Multiple epiphyseal dysplasia property_value: alternative:term "EDM1" xsd:string property_value: alternative:term "MED1" xsd:string property_value: alternative:term "Polyepiphyseal dysplasia type 1" xsd:string [Term] id: Orphanet:93311 name: Multiple epiphyseal dysplasia type 5 xref: ICD10:Q77.3 xref: MESH:C535505 xref: OMIM:607078 xref: UMLS:C1846843 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:251 ! Multiple epiphyseal dysplasia property_value: alternative:term "EDM5" xsd:string property_value: alternative:term "MED5" xsd:string property_value: alternative:term "Polyepiphyseal dysplasia type 5" xsd:string [Term] id: Orphanet:93313 name: Multiple epiphyseal dysplasia, unclassified type is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:251 ! Multiple epiphyseal dysplasia [Term] id: Orphanet:93314 name: Spondylometaphyseal dysplasia, Kozlowski type xref: ICD10:Q77.8 xref: MESH:C535797 xref: OMIM:184252 xref: UMLS:C0265280 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254 ! Spondylometaphyseal dysplasia relationship: part_of Orphanet:364820 ! TRPV4-related bone disorder [Term] id: Orphanet:93315 name: Spondylometaphyseal dysplasia, 'corner fracture' type xref: ICD10:Q77.8 xref: MESH:C535793 xref: OMIM:184255 xref: SNOMED CT:254078005 xref: UMLS:C0432221 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254 ! Spondylometaphyseal dysplasia relationship: part_of Orphanet:93421 ! Type 2 collagen-related bone disorder property_value: alternative:term "Spondylometaphyseal dysplasia, Sutcliffe type" xsd:string [Term] id: Orphanet:93316 name: Spondylometaphyseal dysplasia, Schmidt type xref: ICD10:Q77.8 xref: OMIM:184253 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:254 ! Spondylometaphyseal dysplasia relationship: part_of Orphanet:93421 ! Type 2 collagen-related bone disorder property_value: alternative:term "Spondylometaphyseal dysplasia with severe genu valgum" xsd:string property_value: alternative:term "Spondylometaphyseal dysplasia, Algerian type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet." xsd:string [Term] id: Orphanet:93317 name: Spondylometaphyseal dysplasia, Sedaghatian type xref: ICD10:Q77.8 xref: MESH:C535798 xref: OMIM:250220 xref: UMLS:C1855229 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93434 ! Spondylodysplastic dysplasia [Term] id: Orphanet:93320 name: Ulnar hemimelia xref: ICD10:Q71.5 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:2130 ! Hemimelia property_value: alternative:term "Congenital longitudinal deficiency of the ulna" xsd:string property_value: alternative:term "Ulnar clubhand" xsd:string [Term] id: Orphanet:93321 name: Radial hemimelia xref: ICD10:Q71.4 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:2130 ! Hemimelia property_value: alternative:term "Congenital longitudinal deficiency of the radius" xsd:string property_value: alternative:term "Radial clubhand" xsd:string property_value: alternative:term "Radial ray agenesis" xsd:string [Term] id: Orphanet:93322 name: Tibial hemimelia xref: ICD10:Q72.5 xref: OMIM:275220 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:2130 ! Hemimelia property_value: alternative:term "Absence of tibia" xsd:string property_value: alternative:term "Congenital aplasia and dysplasia of the tibia with intact fibula" xsd:string property_value: alternative:term "Congenital longitudinal deficiency of the tibia" xsd:string [Term] id: Orphanet:93323 name: Fibular hemimelia xref: ICD10:Q72.6 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:2130 ! Hemimelia property_value: alternative:term "Congenital longitudinal deficiency of the fibula" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone." xsd:string [Term] id: Orphanet:93324 name: Autosomal recessive Kenny-Caffey syndrome xref: ICD10:Q87.1 xref: OMIM:244460 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:2333 ! Kenny-Caffey syndrome [Term] id: Orphanet:93325 name: Autosomal dominant Kenny-Caffey syndrome xref: ICD10:Q87.1 xref: OMIM:127000 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:2333 ! Kenny-Caffey syndrome [Term] id: Orphanet:93328 name: Autosomal dominant omodysplasia xref: ICD10:Q78.8 xref: OMIM:164745 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:2733 ! Omodysplasia [Term] id: Orphanet:93329 name: Autosomal recessive omodysplasia xref: ICD10:Q78.8 xref: OMIM:258315 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2733 ! Omodysplasia property_value: alternative:term "Micromelic dysplasia - dislocation of radius" xsd:string [Term] id: Orphanet:93333 name: Pelviscapular dysplasia xref: ICD10:Q87.5 xref: MESH:C535550 xref: OMIM:260660 xref: UMLS:C1850040 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects property_value: alternative:term "Cousin syndrome" xsd:string property_value: alternative:term "Familial pelvis-scapular dysplasia" xsd:string [Term] id: Orphanet:93334 name: Postaxial polydactyly type A xref: ICD10:Q69.0 xref: OMIM:174200 xref: OMIM:263450 xref: OMIM:602085 xref: OMIM:607324 xref: OMIM:608562 xref: OMIM:615226 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:294942 ! Postaxial polydactyly of fingers [Term] id: Orphanet:93335 name: Postaxial polydactyly type B xref: ICD10:Q69.0 xref: OMIM:174200 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:294942 ! Postaxial polydactyly of fingers [Term] id: Orphanet:93336 name: Polydactyly of a triphalangeal thumb xref: ICD10:Q69.1 xref: OMIM:174500 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:294939 ! Preaxial polydactyly of fingers property_value: alternative:term "PPD2" xsd:string property_value: alternative:term "Preaxial polydactyly type 2" xsd:string [Term] id: Orphanet:93337 name: Polydactyly of an index finger xref: ICD10:Q69.0 xref: OMIM:174600 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:294939 ! Preaxial polydactyly of fingers property_value: alternative:term "PPD3" xsd:string property_value: alternative:term "Preaxial polydactyly type 3" xsd:string [Term] id: Orphanet:93338 name: Polysyndactyly xref: ICD10:Q70.4 xref: MEDDRA:10063143 xref: OMIM:174700 xref: SNOMED CT:81330005 xref: SNOMED CT:84598000 xref: UMLS:C0265553 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:294939 ! Preaxial polydactyly of fingers property_value: alternative:term "PPD4" xsd:string property_value: alternative:term "Preaxial polydactyly type 4" xsd:string [Term] id: Orphanet:93339 name: Polydactyly of a biphalangeal thumb xref: ICD10:Q69.1 xref: OMIM:174400 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:294939 ! Preaxial polydactyly of fingers property_value: alternative:term "PPD1" xsd:string property_value: alternative:term "Preaxial polydactyly type 1" xsd:string [Term] id: Orphanet:93346 name: Spondyloepimetaphyseal dysplasia congenita, Strudwick type xref: ICD10:Q77.7 xref: OMIM:184250 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:93421 ! Type 2 collagen-related bone disorder [Term] id: Orphanet:93347 name: Anauxetic dysplasia xref: ICD10:Q77.7 xref: MESH:C538256 xref: OMIM:607095 xref: UMLS:C1846796 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia property_value: alternative:term "Spondyloepimetaphyseal dysplasia, anauxetic type" xsd:string property_value: alternative:term "Spondyloepimetaphyseal dysplasia, Menger type" xsd:string [Term] id: Orphanet:93349 name: X-linked spondyloepimetaphyseal dysplasia xref: ICD10:Q77.7 xref: OMIM:300106 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia [Term] id: Orphanet:93351 name: Spondyloepimetaphyseal dysplasia, Irapa type xref: ICD10:Q77.7 xref: OMIM:271650 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia property_value: alternative:term "SEMD type Irapa" xsd:string property_value: alternative:term "SEMD, Irapa type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment." xsd:string [Term] id: Orphanet:93352 name: Spondyloepimetaphyseal dysplasia, Shohat type xref: ICD10:Q77.7 xref: OMIM:602557 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia property_value: alternative:term "SEMD, Shohat type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly." xsd:string [Term] id: Orphanet:93356 name: Spondyloepimetaphyseal dysplasia, Missouri type xref: ICD10:Q77.7 xref: OMIM:602111 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia property_value: alternative:term "SEMD type 2" xsd:string property_value: alternative:term "SEMD, Missouri type" xsd:string property_value: alternative:term "Spondyloepimetaphyseal dysplasia type 2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood." xsd:string [Term] id: Orphanet:93357 name: SPONASTRIME dysplasia xref: ICD10:Q77.7 xref: OMIM:271510 xref: SNOMED CT:389161008 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia property_value: alternative:term "Spondyloepimetaphyseal dysplasia, Sponastrime type" xsd:string [Term] id: Orphanet:93358 name: Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification xref: ICD10:Q77.7 xref: OMIM:271665 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia [Term] id: Orphanet:93359 name: Spondyloepimetaphyseal dysplasia with joint laxity xref: ICD10:Q77.7 xref: OMIM:271640 xref: SNOMED CT:254100000 xref: UMLS:C0432243 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:309450 ! Disorder of O-xylosylglycan synthesis relationship: part_of Orphanet:371195 ! Congenital disorder of glycosylation-related bone disorder relationship: part_of Orphanet:371200 ! Congenital disorder of glycosylation with skin involvement property_value: alternative:term "SEMD-JL" xsd:string property_value: alternative:term "SEMDJL1" xsd:string property_value: alternative:term "Spondyloepimetaphyseal dysplasia with joint laxity type 1" xsd:string [Term] id: Orphanet:93360 name: Spondyloepimetaphyseal dysplasia with multiple dislocations xref: ICD10:Q77.7 xref: MESH:C535784 xref: OMIM:603546 xref: UMLS:C1863732 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia property_value: alternative:term "SEMD-MD" xsd:string property_value: alternative:term "SEMDJL2" xsd:string property_value: alternative:term "Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type" xsd:string property_value: alternative:term "Spondyloepimetaphyseal dysplasia with joint laxity type 2" xsd:string property_value: alternative:term "Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type" xsd:string property_value: alternative:term "Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type" xsd:string [Term] id: Orphanet:93365 name: CINCA syndrome with NLRP3 mutations xref: ICD10:G03.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:1451 ! CINCA syndrome [Term] id: Orphanet:93367 name: CINCA syndrome without CIAS1 mutations xref: ICD10:G03.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:1451 ! CINCA syndrome [Term] id: Orphanet:93372 name: Familial hypocalciuric hypercalcemia type 1 xref: ICD10:E83.5 xref: MEDDRA:10068704 xref: MESH:C537145 xref: OMIM:145980 xref: SNOMED CT:190868007 xref: UMLS:C0342637 xref: UMLS:C1809471 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:405 ! Familial hypocalciuric hypercalcemia property_value: alternative:term "FHH type 1" xsd:string [Term] id: Orphanet:93382 name: Brachydactyly type A6 xref: ICD10:Q73.8 xref: MESH:C537092 xref: OMIM:112910 xref: UMLS:C1862130 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly relationship: part_of Orphanet:93437 ! Acromesomelic dysplasia property_value: alternative:term "Osebold-Remondini syndrome" xsd:string [Term] id: Orphanet:93383 name: Brachydactyly type B xref: ICD10:Q73.8 xref: OMIM:113000 xref: SNOMED CT:389168002 xref: UMLS:C1300267 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly [Term] id: Orphanet:93384 name: Brachydactyly type C xref: ICD10:Q73.8 xref: MESH:C537093 xref: OMIM:113100 xref: SNOMED CT:389169005 xref: UMLS:C1300268 xref: UMLS:C1862103 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly [Term] id: Orphanet:93387 name: Brachydactyly type E xref: ICD10:Q73.8 xref: OMIM:113300 xref: OMIM:613382 xref: SNOMED CT:63711009 xref: UMLS:C0265312 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short." xsd:string [Term] id: Orphanet:93388 name: Brachydactyly type A1 xref: ICD10:Q73.8 xref: MESH:C537088 xref: OMIM:112500 xref: OMIM:607004 xref: OMIM:615072 xref: UMLS:C1862151 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: alternative:term "Brachydactyly, Farabee type" xsd:string [Term] id: Orphanet:93389 name: Brachydactyly type A5 xref: ICD10:Q73.8 xref: OMIM:112900 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly [Term] id: Orphanet:93394 name: Brachydactyly type A4 xref: ICD10:Q73.8 xref: OMIM:112800 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: alternative:term "Brachydactyly, Temtamy type" xsd:string property_value: alternative:term "Brachymesophalangy II and V" xsd:string [Term] id: Orphanet:93395 name: Ballard syndrome xref: ICD10:Q73.8 xref: OMIM:112440 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: alternative:term "Brachydactyly types B and E combined" xsd:string property_value: alternative:term "Pitt-Williams brachydactyly" xsd:string [Term] id: Orphanet:93396 name: Brachydactyly type A2 xref: ICD10:Q73.8 xref: MESH:C537089 xref: OMIM:112600 xref: UMLS:C1832702 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: alternative:term "Brachydactyly, Mohr-Wriedt type" xsd:string [Term] id: Orphanet:93397 name: Brachydactyly type A7 xref: ICD10:Q73.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:69028 ! Syndrome with brachydactyly property_value: alternative:term "Brachydactyly, Smorgasbord type" xsd:string [Term] id: Orphanet:93398 name: Genochondromatosis type 2 xref: OMIM:137360 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components [Term] id: Orphanet:93399 name: Juvenile sialidosis type 2 xref: ICD10:E77.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:87876 ! Sialidosis type 2 [Term] id: Orphanet:93400 name: Congenital sialidosis type 2 xref: ICD10:E77.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:87876 ! Sialidosis type 2 relationship: part_of Orphanet:98712 ! Metabolic disease with cataract [Term] id: Orphanet:93402 name: Syndactyly type 1 xref: ICD10:Q70 xref: OMIM:185900 xref: OMIM:609815 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:90025 ! Syndactyly [Term] id: Orphanet:93403 name: Syndactyly type 2 xref: ICD10:Q70 xref: MESH:C538153 xref: OMIM:186000 xref: OMIM:608180 xref: OMIM:610234 xref: UMLS:C2699746 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:90025 ! Syndactyly property_value: alternative:term "Synpolydactyly" xsd:string [Term] id: Orphanet:93404 name: Syndactyly type 3 xref: ICD10:Q70.1 xref: MESH:C538154 xref: OMIM:186100 xref: UMLS:C1861366 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:90025 ! Syndactyly property_value: alternative:term "SD3" xsd:string property_value: alternative:term "Syndactyly of fingers 4 and 5" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." xsd:string [Term] id: Orphanet:93405 name: Syndactyly type 4 xref: ICD10:Q70.4 xref: OMIM:186200 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90025 ! Syndactyly property_value: alternative:term "Polysyndactyly, Haas type" xsd:string [Term] id: Orphanet:93406 name: Syndactyly type 5 xref: ICD10:Q70 xref: MESH:C538155 xref: OMIM:186300 xref: UMLS:C1861348 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90025 ! Syndactyly property_value: alternative:term "Postaxial syndactyly with metacarpal synostosis" xsd:string property_value: alternative:term "SD5" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits." xsd:string [Term] id: Orphanet:93409 name: Brachydactyly-syndactyly, Zhao type xref: ICD10:Q73.8 xref: OMIM:610713 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common." xsd:string [Term] id: Orphanet:93419 name: Rare bone disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:93420 name: FGFR3-related chondrodysplasia xref: ICD10:Q77.1 xref: ICD10:Q77.4 is_a: Orphanet:364803 ! Rare bone disease related to a common gene or pathway defect [Term] id: Orphanet:93421 name: Type 2 collagen-related bone disorder is_a: Orphanet:364803 ! Rare bone disease related to a common gene or pathway defect [Term] id: Orphanet:93422 name: Type 11 collagen-related bone disorder is_a: Orphanet:364803 ! Rare bone disease related to a common gene or pathway defect [Term] id: Orphanet:93423 name: Sulfation-related bone disorder is_a: Orphanet:364803 ! Rare bone disease related to a common gene or pathway defect [Term] id: Orphanet:93424 name: Perlecan-related bone disorder is_a: Orphanet:364803 ! Rare bone disease related to a common gene or pathway defect [Term] id: Orphanet:93425 name: Filamin-related bone disorder is_a: Orphanet:364803 ! Rare bone disease related to a common gene or pathway defect property_value: alternative:term "Bone filaminopathy" xsd:string [Term] id: Orphanet:93426 name: Short rib dysplasia xref: ICD10:Q77.2 xref: SNOMED CT:254050009 xref: UMLS:C0432195 is_a: Orphanet:364526 ! Primary bone dysplasia property_value: alternative:term "Short-rib dysplasia (with or without polydactyly)" xsd:string property_value: alternative:term "SRP" xsd:string [Term] id: Orphanet:93429 name: Multiple epiphyseal dysplasia and pseudoachondroplasia xref: ICD10:Q78.8 is_a: Orphanet:364526 ! Primary bone dysplasia [Term] id: Orphanet:93430 name: Multiple metaphyseal dysplasia xref: ICD10:Q78.5 is_a: Orphanet:364526 ! Primary bone dysplasia [Term] id: Orphanet:93434 name: Spondylodysplastic dysplasia is_a: Orphanet:364526 ! Primary bone dysplasia [Term] id: Orphanet:93436 name: Acromelic dysplasia xref: ICD10:Q74.8 is_a: Orphanet:364526 ! Primary bone dysplasia [Term] id: Orphanet:93437 name: Acromesomelic dysplasia xref: MESH:C535658 xref: SNOMED CT:279082008 xref: UMLS:C0265278 is_a: Orphanet:364526 ! Primary bone dysplasia [Term] id: Orphanet:93438 name: Mesomelic and rhizo-mesomelic dysplasia is_a: Orphanet:364526 ! Primary bone dysplasia [Term] id: Orphanet:93439 name: Bent bone dysplasia xref: SNOMED CT:254095002 xref: UMLS:C0432238 is_a: Orphanet:364526 ! Primary bone dysplasia [Term] id: Orphanet:93440 name: Slender bone dysplasia is_a: Orphanet:364526 ! Primary bone dysplasia [Term] id: Orphanet:93441 name: Primary bone dysplasia with multiple joint dislocations is_a: Orphanet:364526 ! Primary bone dysplasia property_value: alternative:term "Primary osteodysplasia with multiple joint dislocations" xsd:string property_value: alternative:term "Primary skeletal dysplasia with multiple joint dislocations" xsd:string [Term] id: Orphanet:93442 name: Chondrodysplasia punctata xref: ICD10:Q77.3 xref: MESH:D002806 xref: SNOMED CT:278715001 xref: SNOMED CT:360507004 xref: UMLS:C0008445 is_a: Orphanet:364526 ! Primary bone dysplasia property_value: alternative:term "CDP" xsd:string [Term] id: Orphanet:93443 name: Neonatal osteosclerotic dysplasia xref: SNOMED CT:389236000 xref: UMLS:C1300205 is_a: Orphanet:93444 ! Primary bone dysplasia with increased bone density [Term] id: Orphanet:93444 name: Primary bone dysplasia with increased bone density is_a: Orphanet:364526 ! Primary bone dysplasia property_value: alternative:term "Primary osteodysplasia with increased bone density" xsd:string property_value: alternative:term "Primary skeletal dysplasia with increased bone density" xsd:string [Term] id: Orphanet:93446 name: Primary bone dysplasia with decreased bone density is_a: Orphanet:364526 ! Primary bone dysplasia property_value: alternative:term "Primary osteodysplasia with decreased bone density" xsd:string property_value: alternative:term "Primary skeletal dysplasia with decreased bone density" xsd:string [Term] id: Orphanet:93447 name: Primary bone dysplasia with defective bone mineralization is_a: Orphanet:364526 ! Primary bone dysplasia property_value: alternative:term "Primary osteodysplasia with defective bone mineralization" xsd:string property_value: alternative:term "Primary skeletal dysplasia with defective bone mineralization" xsd:string [Term] id: Orphanet:93448 name: Lysosomal storage disease with skeletal involvement is_a: Orphanet:183524 ! Rare genetic bone disease is_a: Orphanet:93419 ! Rare bone disease property_value: alternative:term "Dysostosis multiplex" xsd:string [Term] id: Orphanet:93449 name: Primary osteolysis is_a: Orphanet:364526 ! Primary bone dysplasia [Term] id: Orphanet:93450 name: Primary bone dysplasia with disorganized development of skeletal components is_a: Orphanet:364526 ! Primary bone dysplasia property_value: alternative:term "Primary osteodysplasia with disorganized development of skeletal components" xsd:string property_value: alternative:term "Primary skeletal dysplasia with disorganized development of skeletal components" xsd:string [Term] id: Orphanet:93451 name: Cleidocranial dysplasia and isolated cranial ossification defect is_a: Orphanet:364526 ! Primary bone dysplasia [Term] id: Orphanet:93453 name: Dysostosis with predominant craniofacial involvement is_a: Orphanet:364559 ! Dysostosis [Term] id: Orphanet:93454 name: Dysostosis with predominant vertebral and costal involvement is_a: Orphanet:364559 ! Dysostosis [Term] id: Orphanet:93455 name: Patellar dysostosis is_a: Orphanet:364559 ! Dysostosis [Term] id: Orphanet:93457 name: Non syndromic limb reduction defect xref: ICD10:Q71 xref: ICD10:Q72 xref: ICD10:Q73 is_a: Orphanet:109011 ! Nonsyndromic limb malformation is_a: Orphanet:364568 ! Dysostosis with limb anomaly as a major feature property_value: alternative:term "Non syndromic limb hypoplasia" xsd:string [Term] id: Orphanet:93458 name: Non syndromic polydactyly, syndactyly and/or hyperphalangy is_a: Orphanet:109011 ! Nonsyndromic limb malformation is_a: Orphanet:364568 ! Dysostosis with limb anomaly as a major feature [Term] id: Orphanet:93459 name: Syndrome with synostosis or other joint formation defect is_a: Orphanet:109009 ! Syndrome with limb malformations as a major feature is_a: Orphanet:364568 ! Dysostosis with limb anomaly as a major feature [Term] id: Orphanet:93460 name: Overgrowth syndrome xref: ICD10:Q87.3 is_a: Orphanet:139024 ! Overgrowth/obesity syndrome is_a: Orphanet:183573 ! Genetic overgrowth/obesity syndrome [Term] id: Orphanet:93461 name: Chromosomal disease with overgrowth is_a: Orphanet:93460 ! Overgrowth syndrome [Term] id: Orphanet:93465 name: Lethal chondrodysplasia is_a: Orphanet:364526 ! Primary bone dysplasia [Term] id: Orphanet:93473 name: Hurler syndrome xref: ICD10:E76.0 xref: OMIM:607014 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:217581 ! Lysosomal disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:217638 ! Lysosomal disease with restrictive cardiomyopathy relationship: part_of Orphanet:579 ! Mucopolysaccharidosis type 1 property_value: alternative:term "MPS1H" xsd:string property_value: alternative:term "Mucopolysaccharidosis type 1H" xsd:string [Term] id: Orphanet:93474 name: Scheie syndrome xref: ICD10:E76.0 xref: OMIM:607016 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:579 ! Mucopolysaccharidosis type 1 property_value: alternative:term "MPS1S" xsd:string property_value: alternative:term "Mucopolysaccharidosis type 1S" xsd:string [Term] id: Orphanet:93476 name: Hurler-Scheie syndrome xref: ICD10:E76.0 xref: OMIM:607015 xref: SNOMED CT:26745009 xref: UMLS:C0086431 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:217581 ! Lysosomal disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:579 ! Mucopolysaccharidosis type 1 property_value: alternative:term "MPS1H/S" xsd:string property_value: alternative:term "Mucopolysaccharidosis type 1H/S" xsd:string [Term] id: Orphanet:935 name: Short-limb skeletal dysplasia with severe combined immunodeficiency xref: ICD10:D82.2 xref: OMIM:200900 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:317419 ! T-B- severe combined immunodeficiency property_value: alternative:term "Achondroplasia - SCID" xsd:string property_value: alternative:term "Achondroplasia - severe combined immunodeficiency" xsd:string property_value: alternative:term "Achondroplasia - Swiss-type agammaglobulinemia" xsd:string property_value: alternative:term "Immunodeficiency - short limb dwarfism" xsd:string property_value: alternative:term "Short-limb skeletal dysplasia with SCID" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) (see this term), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity." xsd:string [Term] id: Orphanet:93545 name: Renal or urinary tract malformation is_a: Orphanet:93626 ! Rare renal disease is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis property_value: alternative:term "CAKUT" xsd:string property_value: alternative:term "Congenital anomalies of kidney and urinary tract" xsd:string [Term] id: Orphanet:93546 name: Nonsyndromic renal or urinary tract malformation is_a: Orphanet:93545 ! Renal or urinary tract malformation [Term] id: Orphanet:93547 name: Syndromic renal or urinary tract malformation is_a: Orphanet:183539 ! Genetic renal or urinary tract malformation is_a: Orphanet:93545 ! Renal or urinary tract malformation [Term] id: Orphanet:93548 name: Glomerular disease xref: SNOMED CT:197679002 is_a: Orphanet:93626 ! Rare renal disease [Term] id: Orphanet:93550 name: Basement membrane disease is_a: Orphanet:183586 ! Genetic glomerular disease is_a: Orphanet:93548 ! Glomerular disease [Term] id: Orphanet:93551 name: Secondary glomerular disease is_a: Orphanet:93548 ! Glomerular disease [Term] id: Orphanet:93552 name: Pediatric systemic lupus erythematosus xref: ICD10:M32 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:166484 ! Inflammatory and autoimmune disease with epilepsy relationship: part_of Orphanet:182228 ! Systemic autoimmune disease relationship: part_of Orphanet:264704 ! Secondary interstitial lung disease specific to childhood associated with a connective tissue disease relationship: part_of Orphanet:93551 ! Secondary glomerular disease relationship: part_of Orphanet:93573 ! Thrombotic microangiopathy property_value: alternative:term "SLE, pediatric onset" xsd:string [Term] id: Orphanet:93554 name: Type II mixed cryoglobulinemia xref: ICD10:D89.1 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:91138 ! Cryoglobulinemic vasculitis property_value: alternative:term "MC type II" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC, see this term), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody)." xsd:string [Term] id: Orphanet:93555 name: Mixed cryoglobulinemia type III xref: ICD10:D89.1 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:91138 ! Cryoglobulinemic vasculitis property_value: alternative:term "MC type III" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC, see this term), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs." xsd:string [Term] id: Orphanet:93556 name: Heavy chain deposition disease xref: ICD10:D89.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:86861 ! Non-amyloid monoclonal immunoglobulin deposition disease property_value: alternative:term "HCDD" xsd:string [Term] id: Orphanet:93557 name: Light and heavy chain deposition disease xref: ICD10:D89.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:86861 ! Non-amyloid monoclonal immunoglobulin deposition disease property_value: alternative:term "LHCDD" xsd:string [Term] id: Orphanet:93558 name: Light chain deposition disease xref: ICD10:D89.8 xref: SNOMED CT:373604002 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:86861 ! Non-amyloid monoclonal immunoglobulin deposition disease property_value: alternative:term "LCDD" xsd:string [Term] id: Orphanet:93559 name: C3 deposition glomerulonephritis without proliferation is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:93551 ! Secondary glomerular disease [Term] id: Orphanet:93560 name: Familial renal amyloidosis due to Apolipoprotein AI variant xref: ICD10:E85.0 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:85450 ! Familial renal amyloidosis property_value: alternative:term "Apolipoprotein AI amyloidosis" xsd:string property_value: alternative:term "Familial amyloid nephropathy due to apolipoprotein AI variant" xsd:string property_value: alternative:term "Hereditary amyloid nephropathy due to apolipoprotein AI variant" xsd:string property_value: alternative:term "Hereditary renal amyloidosis due to apolipoprotein AI variant" xsd:string [Term] id: Orphanet:93561 name: Familial renal amyloidosis due to lysozyme variant xref: ICD10:E85.0 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:85450 ! Familial renal amyloidosis property_value: alternative:term "Familial amyloid nephropathy due to lysozyme variant" xsd:string property_value: alternative:term "Hereditary amyloid nephropathy due to lysozyme variant" xsd:string property_value: alternative:term "Hereditary renal amyloidosis due to lysozyme variant" xsd:string property_value: alternative:term "Lysozyme amyloidosis" xsd:string [Term] id: Orphanet:93562 name: Familial renal amyloidosis due to fibrinogen A alpha-chain variant xref: ICD10:E85.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:85450 ! Familial renal amyloidosis property_value: alternative:term "Familial amyloid nephropathy due to fibrinogen A alpha-chain variant" xsd:string property_value: alternative:term "Fibrinogen A alpha-chain amyloidosis" xsd:string property_value: alternative:term "Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant" xsd:string property_value: alternative:term "Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant" xsd:string [Term] id: Orphanet:93564 name: Pediatric polyarteritis nodosa xref: ICD10:M30.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:767 ! Polyarteritis nodosa property_value: alternative:term "PAN, pediatric onset" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Childhood-onset systemic polyarteritis nodosa (PAN; see this term) is the pediatric form of PAN, a severe inflammatory disorder of small or medium arteries characterized by necrotizing vasculitis causing cutaneous and systemic disease." xsd:string [Term] id: Orphanet:93567 name: Pediatric systemic sclerosis xref: ICD10:M34.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:264704 ! Secondary interstitial lung disease specific to childhood associated with a connective tissue disease relationship: part_of Orphanet:90291 ! Systemic sclerosis relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "Pediatric systemic scleroderma" xsd:string [Term] id: Orphanet:93568 name: Juvenile polymyositis xref: ICD10:M33.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:182228 ! Systemic autoimmune disease relationship: part_of Orphanet:264704 ! Secondary interstitial lung disease specific to childhood associated with a connective tissue disease relationship: part_of Orphanet:329888 ! Juvenile idiopathic inflammatory myopathy relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "Juvenile PM" xsd:string [Term] id: Orphanet:93569 name: Rhizomelic pseudopolyarthritis xref: ICD10:M31.6 xref: MEDDRA:10068240 xref: UMLS:C1527406 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:397 ! Giant cell arteritis [Term] id: Orphanet:93571 name: Dense deposit disease xref: MESH:D015432 xref: OMIM:609814 xref: SNOMED CT:59479006 xref: UMLS:C0268743 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! histopathological subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:329918 ! Non-immunoglobulin-mediated membranoproliferative glomerulonephritis property_value: alternative:term "Membranoproliferative glomerulonephritis type 2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Type 2 membranoproliferative glomerulonephritis (MPGN), a pathological subtype of MPGN (see this term) is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen (see this term)." xsd:string [Term] id: Orphanet:93573 name: Thrombotic microangiopathy xref: MEDDRA:10043645 xref: MESH:D057049 xref: SNOMED CT:126729006 xref: UMLS:C2717961 is_a: Orphanet:93626 ! Rare renal disease [Term] id: Orphanet:93575 name: Atypical hemolytic uremic syndrome with C3 anomaly xref: ICD10:D58.8 xref: OMIM:612925 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:2134 ! Atypical hemolytic uremic syndrome property_value: alternative:term "aHUS with C3 anomaly" xsd:string property_value: alternative:term "Atypical HUS with C3 anomaly" xsd:string property_value: alternative:term "D-HUS with C3 anomaly" xsd:string property_value: alternative:term "Hemolytic-uremic syndrome without diarrhea with C3 anomaly" xsd:string [Term] id: Orphanet:93576 name: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly xref: ICD10:D58.8 xref: OMIM:612922 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:2134 ! Atypical hemolytic uremic syndrome property_value: alternative:term "aHUS with MCP/CD46 anomaly" xsd:string property_value: alternative:term "Atypical HUS with MCP/CD46 anomaly" xsd:string property_value: alternative:term "D-HUS with MCP/CD46 anomaly" xsd:string property_value: alternative:term "Hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly" xsd:string [Term] id: Orphanet:93578 name: Atypical hemolytic uremic syndrome with B factor anomaly xref: ICD10:D58.8 xref: OMIM:612924 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:2134 ! Atypical hemolytic uremic syndrome property_value: alternative:term "aHUS with B factor anomaly" xsd:string property_value: alternative:term "Atypical HUS with B factor anomaly" xsd:string property_value: alternative:term "D-HUS with B factor anomaly" xsd:string property_value: alternative:term "Hemolytic-uremic syndrome without diarrhea with B factor anomaly" xsd:string [Term] id: Orphanet:93579 name: Atypical hemolytic uremic syndrome with H factor anomaly xref: ICD10:D58.8 xref: OMIM:235400 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:2134 ! Atypical hemolytic uremic syndrome property_value: alternative:term "aHUS with H factor anomaly" xsd:string property_value: alternative:term "Atypical HUS with H factor anomaly" xsd:string property_value: alternative:term "D-HUS with H factor anomaly" xsd:string property_value: alternative:term "Hemolytic-uremic syndrome without diarrhea with H factor anomaly" xsd:string [Term] id: Orphanet:93580 name: Atypical hemolytic uremic syndrome with I factor anomaly xref: ICD10:D58.8 xref: OMIM:612923 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:2134 ! Atypical hemolytic uremic syndrome property_value: alternative:term "aHUS with I factor anomaly" xsd:string property_value: alternative:term "Atypical HUS with I factor anomaly" xsd:string property_value: alternative:term "D-HUS with I factor anomaly" xsd:string property_value: alternative:term "Hemolytic-uremic syndrome without diarrhea with I factor anomaly" xsd:string [Term] id: Orphanet:93581 name: Atypical hemolytic uremic syndrome with anti-factor H antibodies xref: ICD10:D58.8 xref: OMIM:235400 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:2134 ! Atypical hemolytic uremic syndrome property_value: alternative:term "aHUS with anti-factor H antibodies" xsd:string property_value: alternative:term "Atypical HUS with anti-factor H antibodies" xsd:string property_value: alternative:term "D-HUS with anti-factor H antibodies" xsd:string property_value: alternative:term "Hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies" xsd:string [Term] id: Orphanet:93583 name: Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency xref: ICD10:M31.3 xref: OMIM:274150 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:183589 ! Genetic thrombotic microangiopathy relationship: part_of Orphanet:183654 ! Rare genetic coagulation disorder relationship: part_of Orphanet:54057 ! Thrombotic thrombocytopenic purpura property_value: alternative:term "Upshaw-Schulman syndrome" xsd:string [Term] id: Orphanet:93585 name: Acquired thrombotic thrombocytopenic purpura xref: ICD10:M31.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:54057 ! Thrombotic thrombocytopenic purpura property_value: alternative:term "Acquired thrombotic thrombocytopenic purpura due to anti-ADAMTS 13 antibodies" xsd:string [Term] id: Orphanet:93587 name: Familial cystic renal disease is_a: Orphanet:93626 ! Rare renal disease is_a: Orphanet:98056 ! Rare genetic renal disease [Term] id: Orphanet:93589 name: Late-onset autosomal recessive medullary cystic kidney disease xref: ICD10:Q61.5 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:655 ! Autosomal recessive medullary cystic kidney disease [Term] id: Orphanet:93591 name: Infantile autosomal recessive medullary cystic kidney disease xref: ICD10:Q61.5 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:655 ! Autosomal recessive medullary cystic kidney disease [Term] id: Orphanet:93592 name: Juvenile autosomal recessive medullary cystic kidney disease xref: ICD10:Q61.5 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:655 ! Autosomal recessive medullary cystic kidney disease [Term] id: Orphanet:93593 name: Nephropathy secondary to a storage or other metabolic disease is_a: Orphanet:93626 ! Rare renal disease is_a: Orphanet:98056 ! Rare genetic renal disease [Term] id: Orphanet:93594 name: Alpha-1-antichymotrypsin deficiency xref: ICD10:E88.0 xref: SNOMED CT:235909002 xref: UMLS:C0400965 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:101940 ! Metabolic liver disease relationship: part_of Orphanet:101944 ! Rare pulmonary disease relationship: part_of Orphanet:156610 ! Rare genetic respiratory disease relationship: part_of Orphanet:91088 ! Other metabolic disease [Term] id: Orphanet:93598 name: Primary hyperoxaluria type 1 xref: ICD10:E74.8 xref: OMIM:259900 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:309810 ! Disorder of peroxisomal alpha-, beta- and omega-oxidation relationship: part_of Orphanet:416 ! Primary hyperoxaluria property_value: alternative:term "Glycolic aciduria" xsd:string property_value: alternative:term "Peroxisomal alanine-glyoxylate aminotransferase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." xsd:string [Term] id: Orphanet:93599 name: Primary hyperoxaluria type 2 xref: ICD10:E74.8 xref: OMIM:260000 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:416 ! Primary hyperoxaluria property_value: alternative:term "D-glycerate dehydrogenase deficiency" xsd:string property_value: alternative:term "L-glyceric aciduria" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis." xsd:string [Term] id: Orphanet:936 name: Succinic acidemia is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_2609 with label: Isolated NADH-CoQ reductase deficiency" xsd:string [Term] id: Orphanet:93600 name: Primary hyperoxaluria type 3 xref: ICD10:E74.8 xref: OMIM:613616 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:416 ! Primary hyperoxaluria property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." xsd:string [Term] id: Orphanet:93601 name: Xanthinuria type I xref: ICD10:E79.8 xref: OMIM:278300 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: part_of Orphanet:3467 ! Hereditary xanthinuria property_value: alternative:term "Xanthine dehydrogenase deficiency" xsd:string property_value: alternative:term "Xanthine oxidase deficiency" xsd:string property_value: alternative:term "Xanthine oxidoreductase deficiency" xsd:string property_value: alternative:term "XDH deficiency" xsd:string property_value: alternative:term "XO deficiency" xsd:string property_value: alternative:term "XOR deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Type I xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer." xsd:string [Term] id: Orphanet:93602 name: Xanthinuria type II xref: ICD10:E79.8 xref: OMIM:603592 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: part_of Orphanet:3467 ! Hereditary xanthinuria property_value: alternative:term "Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency" xsd:string property_value: alternative:term "XDH and AOX dual deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic." xsd:string [Term] id: Orphanet:93603 name: Rare renal tubular disease is_a: Orphanet:93626 ! Rare renal disease [Term] id: Orphanet:93604 name: Antenatal Bartter syndrome xref: ICD10:E26.8 xref: OMIM:241200 xref: OMIM:601678 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:112 ! Bartter syndrome property_value: alternative:term "Hyperprostaglandin E syndrome" xsd:string [Term] id: Orphanet:93605 name: Classic Bartter syndrome xref: ICD10:E26.8 xref: OMIM:607364 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:112 ! Bartter syndrome property_value: alternative:term "Adult Bartter syndrome" xsd:string property_value: alternative:term "Bartter syndrome type 3" xsd:string [Term] id: Orphanet:93606 name: Nephrogenic syndrome of inappropriate antidiuresis xref: OMIM:300539 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183592 ! Genetic renal tubular disease relationship: part_of Orphanet:93603 ! Rare renal tubular disease property_value: alternative:term "NSIAD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels." xsd:string [Term] id: Orphanet:93607 name: Autosomal recessive proximal renal tubular acidosis xref: OMIM:604278 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:47159 ! Proximal renal tubular acidosis property_value: alternative:term "AR pRTA" xsd:string property_value: alternative:term "Proximal renal tubular acidosis with ocular abnormalities and intellectual deficit" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a form of proximal renal tubular acidosis (pRTA; see this term) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features." xsd:string [Term] id: Orphanet:93608 name: Autosomal dominant distal renal tubular acidosis xref: ICD10:N25.8 xref: OMIM:179800 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:18 ! Distal renal tubular acidosis property_value: alternative:term "AD dRTA" xsd:string property_value: alternative:term "Renal tubular acidosis type 1a" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant complete distal renal tubular acidosis is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis." xsd:string [Term] id: Orphanet:93609 name: Autosomal recessive distal renal tubular acidosis without deafness xref: ICD10:N25.8 xref: OMIM:602722 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:18 ! Distal renal tubular acidosis property_value: alternative:term "AR dRTA without deafness" xsd:string property_value: alternative:term "AR dRTA without hearing loss" xsd:string property_value: alternative:term "Autosomal recessive distal renal tubular acidosis without hearing loss" xsd:string property_value: alternative:term "Renal tubular acidosis type 1c" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Distal renal tubular acidosis type 1c is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis." xsd:string [Term] id: Orphanet:93610 name: Distal renal tubular acidosis with anemia xref: ICD10:N25.8 xref: OMIM:611590 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:18 ! Distal renal tubular acidosis property_value: alternative:term "dRTA with anemia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA; see this term) characterized by a defect in renal acidification and hereditary hemolytic anemia." xsd:string [Term] id: Orphanet:93611 name: Autosomal recessive distal renal tubular acidosis with deafness xref: ICD10:N25.8 xref: OMIM:267300 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:18 ! Distal renal tubular acidosis relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "AR dRTA with hearing loss" xsd:string property_value: alternative:term "AR dRTA wth deafness" xsd:string property_value: alternative:term "Autosomal recessive distal renal tubular acidosis with hearing loss" xsd:string property_value: alternative:term "Renal tubular acidosis type 1b" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal recessive distal renal tubular acidosis type 1b (dRTA type 1b) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis and progressive deafness." xsd:string [Term] id: Orphanet:93612 name: Cystinuria type A xref: ICD10:E72.0 xref: OMIM:220100 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: part_of Orphanet:214 ! Cystinuria [Term] id: Orphanet:93613 name: Cystinuria type B xref: ICD10:E72.0 xref: OMIM:220100 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: part_of Orphanet:214 ! Cystinuria [Term] id: Orphanet:93614 name: Hematological disorder with renal involvement is_a: Orphanet:93626 ! Rare renal disease is_a: Orphanet:98056 ! Rare genetic renal disease [Term] id: Orphanet:93616 name: Hemoglobin H disease xref: ICD10:D56.0 xref: OMIM:613978 xref: SNOMED CT:48553001 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:846 ! Alpha-thalassemia relationship: part_of Orphanet:95618 ! Pituitary hormone deficiency secondary to storage disease property_value: alternative:term "Alpha-thalassemia intermedia" xsd:string property_value: alternative:term "HbH disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia." xsd:string [Term] id: Orphanet:93618 name: Rare cause of hypertension is_a: Orphanet:68362 ! Rare vascular disease is_a: Orphanet:93626 ! Rare renal disease [Term] id: Orphanet:93619 name: Rare renal tumor is_a: Orphanet:93626 ! Rare renal disease is_a: Orphanet:98057 ! Rare tumor [Term] id: Orphanet:93622 name: Dent disease type 1 xref: ICD10:N25.8 xref: MESH:C538212 xref: OMIM:300009 xref: OMIM:300554 xref: OMIM:308990 xref: OMIM:310468 xref: UMLS:C1848336 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:1652 ! Dent disease property_value: alternative:term "Nephrolithiasis type 1" xsd:string [Term] id: Orphanet:93623 name: Dent disease type 2 xref: ICD10:N25.8 xref: OMIM:300555 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:1652 ! Dent disease property_value: alternative:term "Nephrolithiasis type 2" xsd:string [Term] id: Orphanet:93626 name: Rare renal disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:93665 name: Autoinflammatory syndrome is_a: Orphanet:182231 ! Rare rheumatologic disease [Term] id: Orphanet:93668 name: Adult chronic recurrent multifocal osteomyelitis xref: ICD10:M86.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:324964 ! Chronic recurrent multifocal osteomyelitis property_value: alternative:term "Adult CRMO" xsd:string [Term] id: Orphanet:93672 name: Juvenile dermatomyositis xref: ICD10:M33.0 xref: MEDDRA:10008521 xref: SNOMED CT:1212005 xref: UMLS:C0263666 xref: UMLS:C2931785 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:182228 ! Systemic autoimmune disease relationship: part_of Orphanet:264704 ! Secondary interstitial lung disease specific to childhood associated with a connective tissue disease relationship: part_of Orphanet:290836 ! Systemic disease with skin involvement relationship: part_of Orphanet:329888 ! Juvenile idiopathic inflammatory myopathy relationship: part_of Orphanet:93551 ! Secondary glomerular disease property_value: alternative:term "Juvenile DM" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM, see this term), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, erythematous rash, and other cutaneous and systemic manifestations." xsd:string [Term] id: Orphanet:93682 name: Pediatric Castleman disease xref: ICD10:D36.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:160 ! Castleman disease [Term] id: Orphanet:93685 name: Localized Castleman disease xref: ICD10:D36.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:160 ! Castleman disease [Term] id: Orphanet:93686 name: Multicentric Castleman disease xref: ICD10:D36.0 xref: MESH:C537372 xref: UMLS:C1334815 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:160 ! Castleman disease property_value: alternative:term "MCD" xsd:string property_value: alternative:term "Multicentric giant lymph node hyperplasia" xsd:string [Term] id: Orphanet:93688 name: Nonidiopathic juvenile arthritis is_a: Orphanet:182231 ! Rare rheumatologic disease [Term] id: Orphanet:93890 name: Rare developmental defect during embryogenesis is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome property_value: alternative:term "Malformation syndrome" xsd:string [Term] id: Orphanet:939 name: 3-hydroxyisobutyric aciduria xref: ICD10:E71.1 xref: MESH:C535312 xref: OMIM:236795 xref: SNOMED CT:237957007 xref: UMLS:C0342737 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:79163 ! Classic organic aciduria [Term] id: Orphanet:93921 name: Neurofibromatosis type 3 xref: ICD10:Q85.0 xref: MESH:C536641 xref: OMIM:162091 xref: OMIM:162260 xref: SNOMED CT:254240003 xref: UMLS:C0917817 xref: UMLS:C1335929 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:183466 ! Genetic hyperpigmentation of the skin relationship: part_of Orphanet:252190 ! Inherited nervous system cancer-predisposing syndrome relationship: part_of Orphanet:79375 ! Hyperpigmentation of the skin relationship: part_of Orphanet:98196 ! Malformation syndrome with hamartosis property_value: alternative:term "Neurilemmomatosis" xsd:string property_value: alternative:term "NF3" xsd:string property_value: alternative:term "Schwannomatosis" xsd:string [Term] id: Orphanet:93924 name: Lobar holoprosencephaly xref: ICD10:Q04.2 xref: SNOMED CT:253136007 xref: UMLS:C0431362 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:2162 ! Holoprosencephaly relationship: part_of Orphanet:95495 ! Disease associated with nonacquired combined pituitary hormone deficiency property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally." xsd:string [Term] id: Orphanet:93925 name: Alobar holoprosencephaly xref: ICD10:Q04.2 xref: SNOMED CT:253137003 xref: UMLS:C0431363 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:2162 ! Holoprosencephaly relationship: part_of Orphanet:95495 ! Disease associated with nonacquired combined pituitary hormone deficiency property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure." xsd:string [Term] id: Orphanet:93926 name: Midline interhemispheric variant of holoprosencephaly xref: ICD10:Q04.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:2162 ! Holoprosencephaly property_value: alternative:term "Middle interhemispheric fusion variant" xsd:string property_value: alternative:term "Middle interhemispheric variant of holoprosencephaly" xsd:string property_value: alternative:term "MIH" xsd:string property_value: alternative:term "MIH type HPE" xsd:string property_value: alternative:term "MIHF" xsd:string property_value: alternative:term "MIHV" xsd:string property_value: alternative:term "Syntelencephaly" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter." xsd:string [Term] id: Orphanet:93928 name: Epispadias xref: ICD10:Q64.0 xref: MEDDRA:10015088 xref: MESH:D004842 xref: SNOMED CT:406476007 xref: SNOMED CT:406477003 xref: UMLS:C0014588 xref: UMLS:C0563449 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:322 ! Exstrophy-epispadias complex property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." xsd:string [Term] id: Orphanet:93929 name: Cloacal exstrophy xref: ICD10:Q64.1 xref: MEDDRA:10067424 xref: OMIM:258040 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:322 ! Exstrophy-epispadias complex property_value: alternative:term "OEIS complex" xsd:string property_value: alternative:term "Omphalocele - cloacal exstrophy - imperforate anus - spinal defect" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cloacal exstrophy (EC) is a major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC; see this term) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations." xsd:string [Term] id: Orphanet:93930 name: Bladder exstrophy xref: ICD10:Q64.1 xref: MESH:D001746 xref: OMIM:600057 xref: SNOMED CT:61758007 xref: UMLS:C0005689 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:322 ! Exstrophy-epispadias complex property_value: alternative:term "Classic exstrophy of the bladder" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall." xsd:string [Term] id: Orphanet:93937 name: Terminal transverse defects of arm xref: ICD10:Q79.8 xref: OMIM:217100 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:1034 ! Amniotic bands property_value: alternative:term "Congenital limb amputation" xsd:string [Term] id: Orphanet:93938 name: Laryngo-tracheo-esophageal cleft type 1 xref: ICD10:Q32.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2004 ! Laryngo-tracheo-esophageal cleft property_value: alternative:term "LTEC I" xsd:string property_value: alternative:term "LTEC1" xsd:string [Term] id: Orphanet:93939 name: Laryngo-tracheo-esophageal cleft type 2 xref: ICD10:Q32.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2004 ! Laryngo-tracheo-esophageal cleft property_value: alternative:term "LTEC II" xsd:string property_value: alternative:term "LTEC2" xsd:string [Term] id: Orphanet:93940 name: Laryngo-tracheo-esophageal cleft type 3 xref: ICD10:Q32.1 xref: OMIM:215800 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2004 ! Laryngo-tracheo-esophageal cleft property_value: alternative:term "LTEC III" xsd:string property_value: alternative:term "LTEC3" xsd:string [Term] id: Orphanet:93941 name: Laryngo-tracheo-esophageal cleft type 4 xref: ICD10:Q32.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2004 ! Laryngo-tracheo-esophageal cleft property_value: alternative:term "LTEC IV" xsd:string property_value: alternative:term "LTEC4" xsd:string [Term] id: Orphanet:93942 name: Celosomia xref: ICD10:Q76.7 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:2017 ! Sternal cleft relationship: part_of Orphanet:97962 ! Rare surgical thoracic disease [Term] id: Orphanet:93943 name: Corpus callosum dysgenesis - hypopituitarism is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_3157 with label: Septo-optic dysplasia" xsd:string [Term] id: Orphanet:93944 name: X-linked intellectual deficit, Fichera type is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_93950 with label: X-linked intellectual deficit, Sutherland-Haan type" xsd:string [Term] id: Orphanet:93945 name: X-linked intellectual deficit, Porteous type is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3242 ! Renpenning syndrome [Term] id: Orphanet:93946 name: Hamel cerebro-palato-cardiac syndrome is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:3242 ! Renpenning syndrome property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." xsd:string [Term] id: Orphanet:93947 name: X-linked intellectual deficit, Golabi-Ito-Hall type is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:3242 ! Renpenning syndrome property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term)." xsd:string [Term] id: Orphanet:93950 name: X-linked intellectual deficit, Sutherland-Haan type is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: part_of Orphanet:3242 ! Renpenning syndrome [Term] id: Orphanet:93951 name: X-linked dominant intellectual deficit - epilepsy is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:2076 ! X-linked intellectual deficit - epilepsy [Term] id: Orphanet:93952 name: X-linked intellectual disability, Hedera type xref: OMIM:300423 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:2076 ! X-linked intellectual deficit - epilepsy property_value: alternative:term "MRXSH" xsd:string [Term] id: Orphanet:93953 name: Familial thyroglossal duct cyst xref: OMIM:188455 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:155835 ! Cysts and fistulae of the face and oral cavity relationship: part_of Orphanet:95718 ! Congenital thyroid malformation without hypothyroidism property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck." xsd:string [Term] id: Orphanet:93955 name: Benign essential blepharospasm xref: ICD10:G24.5 xref: OMIM:606798 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:1866 ! Focal, segmental or multifocal dystonia property_value: alternative:term "Primary blepharospasm" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Benign essential blepharospasm (BEB) is a cerebral focal and functional dystonia characterized by involuntary excessive blinking that can lead, in severe cases, to functional blindness due to the impossibility of re-opening the eyes at will." xsd:string [Term] id: Orphanet:93956 name: Truncal dystonia xref: ICD10:G24.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:1866 ! Focal, segmental or multifocal dystonia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Truncal dystonia is a form of focal dystonia (see this term), characterized by involuntary back arching often associated with pain and severe motor disability." xsd:string [Term] id: Orphanet:93957 name: Limb dystonia xref: ICD10:G24.8 xref: OMIM:611284 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:1866 ! Focal, segmental or multifocal dystonia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Focal limb dystonia is a form of focal dystonia (see this term), characterized by dystonic spasms of arm or leg muscles accompanied by repetitive, twisting movements or abnormal positions or postures. Limb dystonia may also be segmental, that is affecting group of muscles of an arm as well as the neck, and is also present in those with hemidystonia or generalized dystonia." xsd:string [Term] id: Orphanet:93958 name: Oromandibular dystonia xref: ICD10:G24.4 xref: SNOMED CT:230328001 xref: UMLS:C0393607 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:1866 ! Focal, segmental or multifocal dystonia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Oromandibular dystonia (OMD) is a form of focal dystonia (see this term), affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles." xsd:string [Term] id: Orphanet:93961 name: Laryngeal dyskinesia xref: ICD10:E24.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:1866 ! Focal, segmental or multifocal dystonia property_value: alternative:term "Laryngeal dystonia" xsd:string property_value: alternative:term "Spasmodic dysphonia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Laryngeal dyskinesia (LD) a form of focal dystonia (see this term) that affects laryngeal motor control and is characterized by involuntary adductor or abductor vocal fold spasms during phonation which result in altered phonatory and respiratory functions." xsd:string [Term] id: Orphanet:93962 name: Autosomal dominant cervical dystonia xref: ICD10:G24.3 xref: OMIM:602124 xref: OMIM:614860 xref: OMIM:615034 xref: SNOMED CT:230322000 xref: UMLS:C0393602 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:1866 ! Focal, segmental or multifocal dystonia property_value: alternative:term "Autosomal dominant spasmodic torticollis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cervical dystonia (CD) is the most common type of focal dystonia (see this term) and is characterized by overactive neck muscles with involuntary turning, tilting or twisting of the head which result in torticollis, laterocollis, retrocollis, and anterocollis." xsd:string [Term] id: Orphanet:93963 name: Autosomal dominant focal dystonia, DYT7 type xref: ICD10:G24.1 xref: OMIM:602124 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:1866 ! Focal, segmental or multifocal dystonia property_value: alternative:term "Adult-onset focal torsion dystonia" xsd:string property_value: alternative:term "Adult-onset idiopathic torsion dystonia" xsd:string property_value: alternative:term "DYT7" xsd:string [Term] id: Orphanet:93964 name: Blepharospasm - oromandibular dystonia xref: ICD10:G24.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:1866 ! Focal, segmental or multifocal dystonia property_value: alternative:term "Meige dystonia" xsd:string property_value: alternative:term "Meige syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia (see this term) involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia (see these terms)." xsd:string [Term] id: Orphanet:93968 name: Meningocele is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_823 with label: Isolated spina bifida" xsd:string [Term] id: Orphanet:93969 name: Myelomeningocele xref: ICD10:Q05 is_a: ObsoleteClass ! obsolete_class is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:268744 ! Spina bifida cystica property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_823 with label: Isolated spina bifida" xsd:string [Term] id: Orphanet:93970 name: Holmes-Gang syndrome xref: ICD10:Q01 xref: ICD10:Q05 xref: OMIM:309580 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:73220 ! X-linked intellectual deficit - hypotonic face [Term] id: Orphanet:93971 name: Chudley-Lowry-Hoar syndrome xref: OMIM:309580 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:73220 ! X-linked intellectual deficit - hypotonic face property_value: alternative:term "Chudley-Lowry syndrome" xsd:string [Term] id: Orphanet:93972 name: Juberg-Marsidi syndrome xref: MESH:C537457 xref: OMIM:309580 xref: UMLS:C0796003 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:73220 ! X-linked intellectual deficit - hypotonic face [Term] id: Orphanet:93973 name: Carpenter-Waziri syndrome xref: OMIM:309580 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:73220 ! X-linked intellectual deficit - hypotonic face [Term] id: Orphanet:93974 name: Smith-Fineman-Myers syndrome xref: OMIM:309580 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:73220 ! X-linked intellectual deficit - hypotonic face [Term] id: Orphanet:93975 name: Renier-Gabreels-Jasper syndrome xref: OMIM:309580 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:73220 ! X-linked intellectual deficit - hypotonic face [Term] id: Orphanet:93976 name: Anotia xref: ICD10:Q16.0 xref: MEDDRA:10002654 xref: MESH:C537772 xref: OMIM:600674 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:156243 ! Pinnae and external auditory canal anomaly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Anotia is a congenital malformation of the external ear and the most extreme form of microtia (see this term) characterized by the complete absence of external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development." xsd:string [Term] id: Orphanet:94 name: Astrocytoma xref: MEDDRA:10003571 xref: MESH:D001254 xref: OMIM:137800 xref: SNOMED CT:254938000 xref: SNOMED CT:38713004 xref: UMLS:C0004114 is_a: Orphanet:182067 ! Glial tumor relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "Astrocytic tumor" xsd:string [Term] id: Orphanet:94056 name: Humero-ulnar synostosis xref: ICD10:Q74.0 xref: SNOMED CT:205330003 xref: UMLS:C0431799 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294949 ! Joint formation defects [Term] id: Orphanet:94058 name: Neovascular glaucoma xref: MEDDRA:10062891 xref: MESH:D015355 xref: SNOMED CT:232086000 xref: UMLS:C0017609 is_a: Orphanet:377793 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! particular clinical situation in a disease or syndrome relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:101949 ! Rare acquired eye disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision." xsd:string [Term] id: Orphanet:94061 name: Macrocephaly - immune deficiency - anemia xref: ICD10:D82.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101997 ! Primary immunodeficiency [Term] id: Orphanet:94062 name: Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis xref: OMIM:610947 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108946 ! No data available relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:97929 ! Rare cardiac disease relationship: part_of Orphanet:98054 ! Rare genetic cardiac disease [Term] id: Orphanet:94063 name: 12q14 microdeletion syndrome xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:261821 ! Partial deletion of the long arm of chromosome 12 relationship: part_of Orphanet:93444 ! Primary bone dysplasia with increased bone density property_value: alternative:term "Del(12)(q14)" xsd:string property_value: alternative:term "Deletion 12q14" xsd:string property_value: alternative:term "Monosomy 12q14" xsd:string property_value: alternative:term "Osteopoikilosis - short stature - intellectual deficit" xsd:string [Term] id: Orphanet:94064 name: Deafness-infertility syndrome xref: ICD10:Q93.5 xref: OMIM:611102 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262119 ! Partial deletion of the long arm of chromosome 15 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness relationship: part_of Orphanet:98048 ! Rare male infertility property_value: alternative:term "DIS" xsd:string [Term] id: Orphanet:94065 name: 15q24 microdeletion syndrome xref: ICD10:Q93.5 xref: OMIM:613406 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:262119 ! Partial deletion of the long arm of chromosome 15 property_value: alternative:term "Del(15)(q24)" xsd:string property_value: alternative:term "Monosomy 15q24" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies." xsd:string [Term] id: Orphanet:94066 name: Severe intellectual deficit - epilepsy - anal anomalies - distal phalangeal hypoplasia xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:94068 name: Spondyloepiphyseal dysplasia congenita xref: ICD10:Q77.7 xref: OMIM:183900 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: part_of Orphanet:93421 ! Type 2 collagen-related bone disorder property_value: alternative:term "Congenital spondyloepiphyseal dysplasia" xsd:string property_value: alternative:term "SEDC" xsd:string property_value: alternative:term "Spranger-Wiedemann disease" xsd:string [Term] id: Orphanet:94075 name: Severe immune-mediated enteropathy is_a: Orphanet:117569 ! Rare intestinal disease property_value: alternative:term "Autoimmune enteropathy" xsd:string property_value: alternative:term "Immune-mediated protracted diarrhea of infancy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX; see this term) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss." xsd:string [Term] id: Orphanet:94080 name: Non-secreting paraganglioma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:182130 ! Tumor of endocrine glands relationship: part_of Orphanet:97978 ! Rare endocrine disease [Term] id: Orphanet:94083 name: Partington syndrome xref: OMIM:309510 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182079 ! ARX-related epileptic encephalopathy relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Partington-Mulley syndrome" xsd:string property_value: alternative:term "X-linked intellectual deficit - dystonia - dysarthria" xsd:string [Term] id: Orphanet:94084 name: Pachygyria - epilepsy - intellectual deficit - dysmorphism xref: ICD10:Q04.3 xref: OMIM:606155 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102010 ! Other syndrome with lissencephaly as a major feature relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:269531 ! Other syndrome with a central nervous system malformation as major feature property_value: alternative:term "Cerebro-oculo-facial-lymphatic syndrome" xsd:string property_value: alternative:term "Fryns-Aftimos syndrome" xsd:string [Term] id: Orphanet:94086 name: Blue diaper syndrome xref: ICD10:E72.0 xref: MESH:C536239 xref: OMIM:211000 xref: SNOMED CT:59531002 xref: UMLS:C0268478 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79166 ! Disorder of amino acid absorption and transport property_value: alternative:term "Drummond syndrome" xsd:string property_value: alternative:term "Familial hypercalcemia - nephrocalcinosis - indicanuria" xsd:string [Term] id: Orphanet:94087 name: Cytophagic histiocytic panniculitis xref: ICD10:M35.8 xref: SNOMED CT:238883003 xref: UMLS:C0406594 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:79382 ! Subcutaneous tissue disease property_value: alternative:term "CHP" xsd:string property_value: alternative:term "Winkelmann cytophagic panniculitis" xsd:string [Term] id: Orphanet:94088 name: Hereditary renal hypouricemia xref: OMIM:220150 xref: OMIM:242050 xref: OMIM:307830 xref: OMIM:612076 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:183592 ! Genetic renal tubular disease relationship: part_of Orphanet:93603 ! Rare renal tubular disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF)." xsd:string [Term] id: Orphanet:94089 name: Pseudohypoparathyroidism type 1B xref: ICD10:E20.1 xref: MESH:C548075 xref: OMIM:603233 xref: UMLS:C2932715 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:183592 ! Genetic renal tubular disease relationship: part_of Orphanet:93603 ! Rare renal tubular disease relationship: part_of Orphanet:97593 ! Pseudohypoparathyroidism [Term] id: Orphanet:94090 name: Pseudohypoparathyroidism type 2 xref: ICD10:E20.1 xref: MESH:C548077 xref: OMIM:203330 xref: SNOMED CT:42183005 xref: UMLS:C0271870 xref: UMLS:C2932717 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:183592 ! Genetic renal tubular disease relationship: part_of Orphanet:93603 ! Rare renal tubular disease relationship: part_of Orphanet:97593 ! Pseudohypoparathyroidism [Term] id: Orphanet:94093 name: Neuroleptic malignant syndrome xref: ICD10:G21.0 xref: MEDDRA:10029282 xref: MESH:D009459 xref: SNOMED CT:15244003 xref: UMLS:C0027849 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:94095 name: Spondylocostal dysostosis - anal and genitourinary malformations xref: ICD10:Q87.8 xref: OMIM:271520 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:180148 ! Syndromic uterovaginal malformation relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:93454 ! Dysostosis with predominant vertebral and costal involvement property_value: alternative:term "Casamassima-Morton-Nance syndrome" xsd:string [Term] id: Orphanet:941 name: D-glyceric aciduria xref: ICD10:D72.5 xref: MESH:C535767 xref: OMIM:220120 xref: UMLS:C1291386 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:308998 ! Disorder of glyoxylate metabolism property_value: alternative:term "D-glycerate kinase deficiency" xsd:string property_value: alternative:term "D-glyceric acidemia" xsd:string [Term] id: Orphanet:94122 name: Cerebellar ataxia, Cayman type xref: ICD10:G11.0 xref: OMIM:601238 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98095 ! Autosomal recessive congenital cerebellar ataxia property_value: alternative:term "Cayman ataxia" xsd:string [Term] id: Orphanet:94124 name: Spinocerebellar ataxia type 1 with axonal neuropathy xref: ICD10:G60.2 xref: OMIM:607250 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98097 ! Autosomal recessive cerebellar ataxia due to a DNA repair defect relationship: part_of Orphanet:98497 ! Genetic peripheral neuropathy property_value: alternative:term "SCAN1" xsd:string [Term] id: Orphanet:94125 name: Recessive mitochondrial ataxia syndrome xref: ICD10:G11.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:254818 ! Ataxia neuropathy spectrum relationship: part_of Orphanet:98096 ! Autosomal recessive metabolic cerebellar ataxia property_value: alternative:term "MIRAS" xsd:string [Term] id: Orphanet:94145 name: Autosomal dominant cerebellar ataxia type 1 xref: ICD10:G11.8 is_a: Orphanet:99 ! Autosomal dominant cerebellar ataxia relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "ADCA1" xsd:string property_value: alternative:term "ADCAI" xsd:string property_value: alternative:term "Autosomal dominant cerebellar ataxia type I" xsd:string property_value: alternative:term "Cerebellar plus syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Type I autosomal dominant cerebellar ataxia (ADCA) is a type of spinocerebellar ataxia (SCA) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement." xsd:string [Term] id: Orphanet:94147 name: Spinocerebellar ataxia type 7 xref: ICD10:G11.8 xref: OMIM:164500 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:208508 ! Autosomal dominant cerebellar ataxia type 2 relationship: part_of Orphanet:98693 ! Spinocerebellar ataxia with oculomotor anomaly property_value: alternative:term "Autosomal dominant spinocerebellar ataxia type 7" xsd:string property_value: alternative:term "Cerebellar syndrome - pigmentary maculopathy" xsd:string property_value: alternative:term "SCA7" xsd:string [Term] id: Orphanet:94148 name: Autosomal dominant cerebellar ataxia type 3 xref: ICD10:G11.8 is_a: Orphanet:99 ! Autosomal dominant cerebellar ataxia property_value: alternative:term "ADCA3" xsd:string property_value: alternative:term "ADCAIII" xsd:string property_value: alternative:term "Autosomal dominant cerebellar ataxia type III" xsd:string property_value: alternative:term "Pure cerebellar syndrome - mild pyramidal signs" xsd:string [Term] id: Orphanet:94149 name: Autosomal dominant cerebellar ataxia type 4 xref: ICD10:G11.8 is_a: Orphanet:99 ! Autosomal dominant cerebellar ataxia property_value: alternative:term "ADCA4" xsd:string property_value: alternative:term "ADCAIV" xsd:string property_value: alternative:term "Autosomal dominant cerebellar ataxia type IV" xsd:string [Term] id: Orphanet:94150 name: Anonychia congenita totalis xref: ICD10:Q84.3 xref: OMIM:206800 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:79143 ! Congenital anonychia [Term] id: Orphanet:943 name: Malonic aciduria xref: ICD10:E72.8 xref: MESH:C535702 xref: OMIM:248360 xref: SNOMED CT:124594007 xref: SNOMED CT:361203007 xref: UMLS:C0342793 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309133 ! Metabolic disease due to other fatty acid oxidation disorder property_value: alternative:term "Malonyl-CoA decarboxylase deficiency" xsd:string [Term] id: Orphanet:945 name: Acalvaria xref: ICD10:Q75.8 xref: MESH:C535570 xref: MESH:D009436 xref: SNOMED CT:203923004 xref: SNOMED CT:36745003 xref: UMLS:C0702169 xref: UMLS:C2930936 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98038 ! Cranial malformation property_value: alternative:term "Acrania" xsd:string [Term] id: Orphanet:946 name: Acrocephalosyndactyly xref: ICD10:Q87.0 xref: MEDDRA:10000590 xref: SNOMED CT:268262006 is_a: Orphanet:139393 ! Syndromic craniosynostosis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbingof the fingers or toes, often with other associated manifestations." xsd:string [Term] id: Orphanet:949 name: Acrocraniofacial dysostosis xref: ICD10:Q87.0 xref: OMIM:201050 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:364574 ! Acrofacial dysostosis property_value: alternative:term "Kaplan-Plauchu-Fitch syndrome" xsd:string [Term] id: Orphanet:95 name: Friedreich ataxia xref: ICD10:G11.1 xref: MEDDRA:10017374 xref: MESH:D005621 xref: OMIM:229300 xref: OMIM:601992 xref: SNOMED CT:10394003 xref: UMLS:C0016719 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:207028 ! Cerebellar ataxia with peripheral neuropathy relationship: part_of Orphanet:217595 ! Syndrome associated with hypertrophic cardiomyopathy relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:98098 ! Autosomal recessive degenerative and progressive cerebellar ataxia relationship: part_of Orphanet:98694 ! Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing." xsd:string [Term] id: Orphanet:950 name: Acrodysostosis xref: ICD10:Q75.4 xref: MESH:C538179 xref: OMIM:101800 xref: OMIM:614613 xref: SNOMED CT:66758006 xref: UMLS:C0220659 is_a: Orphanet:155899 ! Mandibulofacial dysostosis is_a: Orphanet:93436 ! Acromelic dysplasia relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Acrodysplasia" xsd:string property_value: alternative:term "Arkless-Graham syndrome" xsd:string property_value: alternative:term "Maroteaux-Malamut syndrome" xsd:string [Term] id: Orphanet:95157 name: Acute hepatic porphyria xref: ICD10:E80.2 is_a: Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy is_a: Orphanet:738 ! Porphyria relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 [Term] id: Orphanet:95159 name: Hepatoerythropoietic porphyria xref: ICD10:E80.2 xref: MESH:D017121 xref: OMIM:176100 xref: SNOMED CT:111386004 xref: UMLS:C0162569 xref: UMLS:C0268324 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:95161 ! Chronic hepatic porphyria property_value: alternative:term "HEP" xsd:string [Term] id: Orphanet:95161 name: Chronic hepatic porphyria xref: ICD10:E80.2 is_a: Orphanet:738 ! Porphyria relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 [Term] id: Orphanet:952 name: Acrofacial dysostosis, Weyers type xref: ICD10:Q75.4 xref: MESH:C536695 xref: OMIM:193530 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:364574 ! Acrofacial dysostosis relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome property_value: alternative:term "Curry-Hall syndrome" xsd:string property_value: alternative:term "Weyers acrodental dysostosis" xsd:string property_value: alternative:term "Weyers acrofacial dysostosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acrofacial dysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities, characterized by postaxial polydactyly, onychodystrophy, dental anomalies, and a mild short stature associated with normal intelligence." xsd:string [Term] id: Orphanet:95232 name: Lissencephaly due to LIS1 mutation xref: ICD10:Q04.3 xref: OMIM:607432 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:102009 ! Classic lissencephaly [Term] id: Orphanet:95409 name: Acute adrenal insufficiency is_a: Orphanet:377792 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:101958 ! Primary adrenal insufficiency property_value: alternative:term "Acute adrenal failure" xsd:string property_value: alternative:term "Acute adrenocortical insufficiency" xsd:string property_value: alternative:term "Adrenal crisis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made." xsd:string [Term] id: Orphanet:95427 name: Secondary short bowel syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:104008 ! Short bowel syndrome property_value: alternative:term "Short bowel syndrome due to necrotizing enterocolitis" xsd:string property_value: alternative:term "Short bowel syndrome due to surgical resection" xsd:string property_value: alternative:term "Short bowel syndrome due to thrombosis" xsd:string property_value: alternative:term "Short bowel syndrome due to total or sub-total aganglionosis" xsd:string property_value: alternative:term "Short bowel syndrome due to trauma" xsd:string property_value: alternative:term "Short bowel syndrome due to volvulus" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility." xsd:string [Term] id: Orphanet:95428 name: COG8-CDG xref: ICD10:E77.8 xref: OMIM:611182 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309568 ! Defect in conserved oligomeric Golgi complex relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature property_value: alternative:term "Carbohydrate deficient glycoprotein syndrome type IIh" xsd:string property_value: alternative:term "CDG syndrome type 2h" xsd:string property_value: alternative:term "CDG syndrome type IIh" xsd:string property_value: alternative:term "CDG-IIh" xsd:string property_value: alternative:term "CDG2H" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type 2h" xsd:string property_value: alternative:term "Congenital disorder of glycosylation type IIh" xsd:string [Term] id: Orphanet:95429 name: Angioma serpiginosum xref: ICD10:L81.7 xref: OMIM:106050 xref: OMIM:300652 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183478 ! Genetic skin vascular disease relationship: part_of Orphanet:211237 ! Vascular tumor relationship: part_of Orphanet:79379 ! Skin vascular disease [Term] id: Orphanet:95430 name: Congenital tracheomalacia xref: ICD10:Q32.0 xref: MEDDRA:10010654 xref: SNOMED CT:95467005 xref: UMLS:C0392109 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:108993 ! Nonsyndromic respiratory or mediastinal malformation relationship: part_of Orphanet:156252 ! Tracheal anomaly relationship: part_of Orphanet:182111 ! Respiratory malformation property_value: alternative:term "Congenital major airway collapse" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing and crying, usually presenting in infancy, and characterized by stridor and noisy breathing or with upper respiratory infections that improves by the age of 18-24 months." xsd:string [Term] id: Orphanet:95431 name: Twin to twin transfusion syndrome xref: ICD10:O43.0 xref: MEDDRA:10058328 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:97992 ! Rare hematologic disease relationship: part_of Orphanet:98004 ! Rare immune disease property_value: alternative:term "Feto-fetal transfusion syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Twin twin transfusion syndrome (TTTS) is a rare condition seen in monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated" xsd:string [Term] id: Orphanet:95432 name: Primary progressive aphasia xref: ICD10:G31.0 xref: MESH:D018888 xref: UMLS:C0282513 is_a: Orphanet:98534 ! Neurodegenerative disease with dementia relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood property_value: alternative:term "Mesulam syndrome" xsd:string property_value: alternative:term "PPA" xsd:string [Term] id: Orphanet:95433 name: Autosomal recessive cerebellar ataxia - blindness - deafness xref: ICD10:G11.1 xref: OMIM:271250 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98099 ! Autosomal recessive syndromic cerebellar ataxia property_value: alternative:term "SCAR3" xsd:string [Term] id: Orphanet:95434 name: Autosomal recessive cerebellar ataxia - saccadic intrusion xref: ICD10:G11.1 xref: OMIM:607317 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98099 ! Autosomal recessive syndromic cerebellar ataxia property_value: alternative:term "SCAR4" xsd:string property_value: alternative:term "SCASI" xsd:string [Term] id: Orphanet:95443 name: Mesocardia xref: ICD10:Q24.8 xref: SNOMED CT:16567006 xref: UMLS:C0265865 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98716 ! Heart position anomaly property_value: alternative:term "Midline heart" xsd:string [Term] id: Orphanet:95448 name: Aortic valve atresia xref: ICD10:Q23.0 xref: MEDDRA:10066801 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3093 ! Congenital aortic valve stenosis [Term] id: Orphanet:95449 name: Congenital aortic valve insufficiency xref: ICD10:Q23.1 xref: MEDDRA:10010370 xref: SNOMED CT:28656008 xref: UMLS:C0158617 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98718 ! Aortic malformation [Term] id: Orphanet:95455 name: Toxic epidermal necrolysis xref: ICD10:L51.2 xref: MEDDRA:10044223 xref: MESH:D004816 xref: OMIM:608579 xref: UMLS:C0014518 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:293815 ! Toxic dermatosis property_value: alternative:term "SJS-TEN" xsd:string property_value: alternative:term "Toxic epidermolysis" xsd:string [Term] id: Orphanet:95457 name: Tricuspid valve agenesis xref: ICD10:Q22.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98721 ! Congenital tricuspid malformation property_value: alternative:term "Congenital unguarded tricuspid orifice" xsd:string [Term] id: Orphanet:95458 name: Tricuspid valve prolapse xref: ICD10:Q22.8 xref: MEDDRA:10066862 xref: MESH:D014263 xref: SNOMED CT:253383003 xref: UMLS:C0040962 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98721 ! Congenital tricuspid malformation [Term] id: Orphanet:95459 name: Congenital tricuspid stenosis xref: ICD10:Q22.4 xref: MEDDRA:10010656 xref: SNOMED CT:36233006 xref: UMLS:C0265836 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98721 ! Congenital tricuspid malformation [Term] id: Orphanet:95461 name: Straddling or overriding tricuspid valve xref: ICD10:Q22.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98721 ! Congenital tricuspid malformation [Term] id: Orphanet:95462 name: Accessory tricuspid valve tissue xref: ICD10:Q22.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98721 ! Congenital tricuspid malformation [Term] id: Orphanet:95463 name: Anomaly of the tricuspid subvalvular apparatus xref: ICD10:Q22.8 is_a: Orphanet:98721 ! Congenital tricuspid malformation [Term] id: Orphanet:95464 name: Congenital mitral valve insufficiency and/or stenosis xref: ICD10:Q23.2 xref: ICD10:Q23.3 is_a: Orphanet:2447 ! Congenital mitral malformation [Term] id: Orphanet:95465 name: Cleft mitral valve xref: ICD10:Q23.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:2447 ! Congenital mitral malformation [Term] id: Orphanet:95474 name: Double-orifice mitral valve xref: ICD10:Q23.8 xref: SNOMED CT:253402005 xref: UMLS:C0344770 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:95465 ! Cleft mitral valve [Term] id: Orphanet:95483 name: Univentricular cardiopathy is_a: Orphanet:88991 ! Congenital heart malformation [Term] id: Orphanet:95484 name: Aneurysm or dilatation of ascending aorta xref: ICD10:Q25.4 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98725 ! Ascending aorta anomaly [Term] id: Orphanet:95485 name: Arterial duct anomaly is_a: Orphanet:98724 ! Congenital great vessels anomaly property_value: alternative:term "Patent ductus arteriosus anomalies" xsd:string [Term] id: Orphanet:95486 name: Premature closure of the arterial duct xref: ICD10:Q25.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95485 ! Arterial duct anomaly property_value: alternative:term "Premature closure of the patent ductus arteriosus" xsd:string [Term] id: Orphanet:95487 name: Atypical arterial duct xref: ICD10:Q25.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:706 ! Patent arterial duct property_value: alternative:term "Atypical patent ductus arteriosus" xsd:string [Term] id: Orphanet:95488 name: Nonacquired pituitary hormone deficiency xref: ICD10:E23.0 is_a: Orphanet:101957 ! Pituitary deficiency is_a: Orphanet:90692 ! Rare endocrine growth disease [Term] id: Orphanet:95491 name: Congenital coronary artery aneurysm xref: ICD10:Q24.5 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:1081 ! Coronary artery congenital malformation [Term] id: Orphanet:95493 name: Abnormal origin or aberrant course of coronary artery xref: ICD10:Q24.5 is_a: Orphanet:1081 ! Coronary artery congenital malformation [Term] id: Orphanet:95494 name: Combined pituitary hormone deficiencies, genetic forms xref: ICD10:E23.0 xref: OMIM:182230 xref: OMIM:262600 xref: OMIM:613038 xref: OMIM:613986 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:178025 ! Nonacquired combined pituitary hormone deficiencies without extra-pituitary malformations property_value: alternative:term "Familial congenital hypopituitarism" xsd:string property_value: alternative:term "Multiple pituitary hormone deficiencies, genetic forms" xsd:string [Term] id: Orphanet:95495 name: Disease associated with nonacquired combined pituitary hormone deficiency xref: ICD10:E23.0 xref: ICD10:Q87 is_a: Orphanet:467 ! Nonacquired combined pituitary hormone deficiency [Term] id: Orphanet:95496 name: Pituitary stalk interruption syndrome xref: ICD10:E23.6 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:95488 ! Nonacquired pituitary hormone deficiency property_value: alternative:term "Ectopic neurohypophysis" xsd:string property_value: alternative:term "PSIS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk." xsd:string [Term] id: Orphanet:95498 name: Congenital anomaly of superior vena cava xref: SNOMED CT:70195006 xref: UMLS:C0265928 is_a: Orphanet:3091 ! Congenital systemic veins anomaly property_value: alternative:term "Congenital anomaly of superior caval vein" xsd:string property_value: alternative:term "Congenital anomaly of the SVC" xsd:string [Term] id: Orphanet:95499 name: Congenital anomaly of the inferior vena cava xref: ICD10:Q26.8 xref: SNOMED CT:81577001 xref: UMLS:C0265932 is_a: Orphanet:3091 ! Congenital systemic veins anomaly property_value: alternative:term "Congenital anomaly of the inferior caval vein" xsd:string property_value: alternative:term "Congenital anomaly of the IVC" xsd:string [Term] id: Orphanet:955 name: Acroosteolysis, dominant type xref: ICD10:M89.5 xref: MESH:C531695 xref: MESH:C535663 xref: MESH:D031845 xref: OMIM:102400 xref: OMIM:102500 xref: SNOMED CT:63122002 xref: UMLS:C0917715 xref: UMLS:C2930971 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93449 ! Primary osteolysis relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: alternative:term "Acro-dento-osteo-dysplasia" xsd:string property_value: alternative:term "Hajdu-Cheney syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acroosteolysis dominant type (AOD) is a rare genetic osteolysis characterized by acro-osteolysis of terminal phalanges and generalized osteoporosis associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics" xsd:string [Term] id: Orphanet:95500 name: Congenital anomaly of the coronary sinus xref: ICD10:Q21.1 is_a: Orphanet:3091 ! Congenital systemic veins anomaly [Term] id: Orphanet:95502 name: Acquired pituitary hormone deficiency xref: ICD10:E23.0 is_a: Orphanet:101957 ! Pituitary deficiency [Term] id: Orphanet:95503 name: Pituitary hormone deficiency from tumoral origin is_a: Orphanet:95502 ! Acquired pituitary hormone deficiency [Term] id: Orphanet:95505 name: Pituitary hormone deficiency from meningeal origin is_a: Orphanet:95502 ! Acquired pituitary hormone deficiency [Term] id: Orphanet:95506 name: Primary hypophysitis xref: ICD10:E23.6 is_a: Orphanet:95502 ! Acquired pituitary hormone deficiency property_value: alternative:term "Autoimmune hypophysitis" xsd:string [Term] id: Orphanet:95507 name: Congenital anomaly of hepatic vein xref: ICD10:Q26.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:3091 ! Congenital systemic veins anomaly [Term] id: Orphanet:95510 name: Atrial appendage anomaly xref: ICD10:Q20.8 is_a: Orphanet:98727 ! Atrial defect and interauricular communication property_value: alternative:term "Atrial auricle anomaly" xsd:string [Term] id: Orphanet:95512 name: Adenohypophysitis xref: ICD10:E23.6 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:95506 ! Primary hypophysitis property_value: alternative:term "Anterior pituitary hypophysitis" xsd:string [Term] id: Orphanet:95513 name: Panhypophysitis xref: ICD10:E23.6 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:95506 ! Primary hypophysitis property_value: alternative:term "Infundibulo-panhypophysitis" xsd:string [Term] id: Orphanet:956 name: Acro-pectoro-renal dysplasia xref: ICD10:Q87.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:180193 ! Syndromic breast hypoplasia/aplasia relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation [Term] id: Orphanet:95611 name: Pituitary hormone defiency from vascular origin xref: ICD10:E23.0 is_a: Orphanet:95502 ! Acquired pituitary hormone deficiency [Term] id: Orphanet:95613 name: Pituitary apoplexy xref: ICD10:E23.0 xref: MEDDRA:10056447 xref: MESH:D010899 xref: SNOMED CT:237701005 xref: UMLS:C0032001 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108930 ! No data available relationship: part_of Orphanet:95502 ! Acquired pituitary hormone deficiency [Term] id: Orphanet:95617 name: Pituitary hormone deficiency secondary to a granulomatous disease is_a: Orphanet:95502 ! Acquired pituitary hormone deficiency [Term] id: Orphanet:95618 name: Pituitary hormone deficiency secondary to storage disease is_a: Orphanet:95502 ! Acquired pituitary hormone deficiency [Term] id: Orphanet:95619 name: Iatrogenic or traumatic pituitary deficiency xref: ICD10:E23.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:95502 ! Acquired pituitary hormone deficiency [Term] id: Orphanet:95626 name: Acquired central diabetes insipidus xref: ICD10:E23.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:178029 ! Central diabetes insipidus property_value: alternative:term "Acquired CDI" xsd:string property_value: alternative:term "Acquired neurogenic diabetes insipidus" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI, see this term), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production." xsd:string [Term] id: Orphanet:95699 name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency xref: ICD10:E25.0 xref: OMIM:613571 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis relationship: part_of Orphanet:418 ! Congenital adrenal hyperplasia relationship: part_of Orphanet:90776 ! 46,XX disorder of sex development induced by fetal androgens excess relationship: part_of Orphanet:90786 ! 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect property_value: alternative:term "Congenital adrenal hyperplasia due to cytochrome POR deficiency" xsd:string property_value: alternative:term "POR deficiency" xsd:string property_value: alternative:term "PORD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations." xsd:string [Term] id: Orphanet:957 name: Acropectorovertebral dysplasia xref: ICD10:Q68.1 xref: ICD10:Q78.8 xref: OMIM:102510 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:182108 ! Thoracic malformation relationship: part_of Orphanet:294959 ! Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy property_value: alternative:term "F syndrome" xsd:string [Term] id: Orphanet:95700 name: Familial adrenal hypoplasia with absent pituitary luteinizing hormone xref: ICD10:E27.1 xref: OMIM:202150 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:101960 ! Genetic chronic primary adrenal insufficiency relationship: part_of Orphanet:181390 ! Hypogonadotropic hypogonadism associated with other endocrinopathies relationship: part_of Orphanet:98087 ! Syndrome with 46,XY disorder of sex development property_value: alternative:term "Familial adrenal hypoplasia with absent pituitary LH" xsd:string property_value: alternative:term "Familial adrenal hypoplasia, miniature type" xsd:string [Term] id: Orphanet:95701 name: Congenital adrenal hypoplasia of maternal cause xref: ICD10:E27.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101963 ! Acquired chronic primary adrenal insufficiency [Term] id: Orphanet:95702 name: Cytomegalic congenital adrenal hypoplasia xref: ICD10:E27.1 xref: OMIM:202155 xref: OMIM:300200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: part_of Orphanet:101960 ! Genetic chronic primary adrenal insufficiency relationship: part_of Orphanet:181390 ! Hypogonadotropic hypogonadism associated with other endocrinopathies relationship: part_of Orphanet:98048 ! Rare male infertility property_value: alternative:term "X-linked congenital adrenal hypoplasia" xsd:string [Term] id: Orphanet:95706 name: Posterior hypospadias xref: ICD10:Q54.2 xref: ICD10:Q54.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:182121 ! Nonsyndromic urogenital tract malformation of male property_value: alternative:term "Perineal, scrotal or penoscrotal hypospadias" xsd:string [Term] id: Orphanet:95707 name: Isolated micropenis xref: ICD10:Q55.6 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:182121 ! Nonsyndromic urogenital tract malformation of male [Term] id: Orphanet:95708 name: Precocious puberty xref: ICD10:E22.8 xref: ICD10:E30.1 xref: MEDDRA:10044701 xref: MEDDRA:10058084 xref: MESH:D011629 xref: SNOMED CT:123527003 xref: SNOMED CT:400179000 xref: UMLS:C0034013 is_a: Orphanet:180208 ! Anomaly of puberty or/and menstrual cycle is_a: Orphanet:90692 ! Rare endocrine growth disease [Term] id: Orphanet:95709 name: Acquired premature ovarian failure xref: ICD10:E28.8 is_a: Orphanet:180208 ! Anomaly of puberty or/and menstrual cycle is_a: Orphanet:90692 ! Rare endocrine growth disease [Term] id: Orphanet:95710 name: Non-acquired premature ovarian failure xref: ICD10:E28.3 is_a: Orphanet:156638 ! Rare genetic endocrine disease is_a: Orphanet:180208 ! Anomaly of puberty or/and menstrual cycle is_a: Orphanet:202940 ! Anomaly of puberty or/and menstrual cycle of genetic origin is_a: Orphanet:90692 ! Rare endocrine growth disease [Term] id: Orphanet:95711 name: Congenital hypothyroidism due to developmental anomaly xref: ICD10:E03.1 is_a: Orphanet:226295 ! Primary congenital hypothyroidism property_value: alternative:term "Primary congenital hypothyroidism due to developmental anomaly" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Thyroid dysgenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." xsd:string [Term] id: Orphanet:95712 name: Thyroid ectopia xref: ICD10:E03.1 xref: OMIM:218700 xref: OMIM:225250 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:95711 ! Congenital hypothyroidism due to developmental anomaly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." xsd:string [Term] id: Orphanet:95713 name: Athyreosis xref: ICD10:E03.1 xref: OMIM:218700 xref: OMIM:225250 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:95711 ! Congenital hypothyroidism due to developmental anomaly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." xsd:string [Term] id: Orphanet:95714 name: Primary congenital hypothyroidism without thyroid developmental anomaly xref: ICD10:E03.0 xref: ICD10:E03.1 is_a: Orphanet:226295 ! Primary congenital hypothyroidism property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal." xsd:string [Term] id: Orphanet:95715 name: Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies xref: ICD10:P72.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:238696 ! Transient congenital hypothyroidism due to maternal factor property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism (see this term), a thyroid hormone deficiency that is not permanent." xsd:string [Term] id: Orphanet:95716 name: Familial thyroid dyshormonogenesis xref: ICD10:E03.0 xref: ICD10:E03.1 xref: OMIM:274400 xref: OMIM:274500 xref: OMIM:274700 xref: OMIM:274800 xref: OMIM:274900 xref: OMIM:607200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:95714 ! Primary congenital hypothyroidism without thyroid developmental anomaly property_value: alternative:term "Thyroid dyshormonogenesis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis." xsd:string [Term] id: Orphanet:95717 name: Idiopathic congenital hypothyroidism xref: ICD10:E03.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:95714 ! Primary congenital hypothyroidism without thyroid developmental anomaly property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism (see this term) whose cause and prevalence are unknown." xsd:string [Term] id: Orphanet:95718 name: Congenital thyroid malformation without hypothyroidism xref: ICD10:Q89.2 is_a: Orphanet:101955 ! Rare thyroid disease [Term] id: Orphanet:95719 name: Thyroid hemiagenesis xref: ICD10:E03.1 xref: OMIM:218700 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:95711 ! Congenital hypothyroidism due to developmental anomaly relationship: part_of Orphanet:95718 ! Congenital thyroid malformation without hypothyroidism property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Thyroid hemiagenesis is a form of thyroid dysgenesis (see this term) characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." xsd:string [Term] id: Orphanet:95720 name: Thyroid hypoplasia xref: ICD10:E03.1 xref: OMIM:218700 xref: OMIM:225250 xref: SNOMED CT:367524008 xref: UMLS:C0151516 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:95711 ! Congenital hypothyroidism due to developmental anomaly relationship: part_of Orphanet:95718 ! Congenital thyroid malformation without hypothyroidism property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth." xsd:string [Term] id: Orphanet:95721 name: Thyroid pyramidal lobe is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95718 ! Congenital thyroid malformation without hypothyroidism [Term] id: Orphanet:958 name: Acro-renal-mandibular syndrome xref: ICD10:Q87.8 xref: OMIM:200980 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Split hand/split foot - mandibular hypoplasia" xsd:string [Term] id: Orphanet:95854 name: Levocardia xref: ICD10:Q24.1 xref: MESH:D007979 xref: SNOMED CT:205769006 xref: UMLS:C0023569 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:450 ! Heterotaxia property_value: alternative:term "Levocardia-situs inversus" xsd:string [Term] id: Orphanet:959 name: Acro-renal-ocular syndrome xref: ICD10:Q87.8 xref: OMIM:607323 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit [Term] id: Orphanet:96 name: Ataxia with vitamin E deficiency xref: ICD10:E56.0 xref: ICD10:G11.1 xref: MESH:C535393 xref: OMIM:277460 xref: UMLS:C1848533 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:207018 ! Rare hereditary metabolic disease with peripheral neuropathy relationship: part_of Orphanet:309833 ! Disorder of other vitamins and cofactors metabolism and transport relationship: part_of Orphanet:68385 ! Neurometabolic disease relationship: part_of Orphanet:98096 ! Autosomal recessive metabolic cerebellar ataxia relationship: part_of Orphanet:98713 ! Metabolic disease with pigmentary retinitis property_value: alternative:term "Ataxia with isolated vitamin E deficiency" xsd:string property_value: alternative:term "AVED" xsd:string property_value: alternative:term "Familial isolated vitamin E deficiency" xsd:string property_value: alternative:term "Friedreich-like ataxia" xsd:string property_value: alternative:term "Isolated vitamin E deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E." xsd:string [Term] id: Orphanet:96055 name: Tetrasomy 21 xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98132 ! Partial autosomal trisomy/tetrasomy property_value: alternative:term "Isochromosome 21" xsd:string [Term] id: Orphanet:96059 name: Mosaic trisomy 4 xref: ICD10:Q92.1 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98131 ! Total autosomal trisomy [Term] id: Orphanet:96060 name: Mosaic trisomy 5 xref: ICD10:Q92.1 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98131 ! Total autosomal trisomy [Term] id: Orphanet:96061 name: Mosaic trisomy 8 xref: ICD10:Q92.1 xref: MEDDRA:10053916 xref: MESH:C537940 xref: SNOMED CT:205646001 xref: SNOMED CT:68454002 xref: UMLS:C1096527 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98131 ! Total autosomal trisomy property_value: alternative:term "Warkany syndrome" xsd:string [Term] id: Orphanet:96063 name: Mosaic trisomy 10 xref: ICD10:Q92.1 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98131 ! Total autosomal trisomy [Term] id: Orphanet:96068 name: Mosaic trisomy 22 xref: ICD10:Q92.1 xref: MESH:C536796 xref: UMLS:C2931326 xref: UMLS:C2931327 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98131 ! Total autosomal trisomy [Term] id: Orphanet:96069 name: Distal trisomy 1p36 xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:264431 ! Partial duplication of the short arm of chromosome 1 property_value: alternative:term "Distal duplication 1p36" xsd:string property_value: alternative:term "Telomeric duplication 1p36" xsd:string property_value: alternative:term "Trisomy 1pter" xsd:string [Term] id: Orphanet:96070 name: Distal trisomy 2p xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262698 ! Partial duplication of the short arm of chromosome 2 relationship: part_of Orphanet:98642 ! Chromosomal anomaly with cataract property_value: alternative:term "Distal duplication 2p" xsd:string property_value: alternative:term "Telomeric duplication 2p" xsd:string property_value: alternative:term "Trisomy 2pter" xsd:string [Term] id: Orphanet:96071 name: Distal trisomy 3p xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262707 ! Partial duplication of the short arm of chromosome 3 property_value: alternative:term "Distal duplication 3p" xsd:string property_value: alternative:term "Telomeric duplication 3p" xsd:string property_value: alternative:term "Trisomy 3pter" xsd:string [Term] id: Orphanet:96072 name: 4p16.3 microduplication syndrome xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262716 ! Partial duplication of the short arm of chromosome 4 relationship: part_of Orphanet:93461 ! Chromosomal disease with overgrowth property_value: alternative:term "Distal duplication 4p" xsd:string property_value: alternative:term "Distal trisomy 4p" xsd:string property_value: alternative:term "Telomeric duplication 4p" xsd:string property_value: alternative:term "Trisomy 4pter" xsd:string [Term] id: Orphanet:96074 name: Distal trisomy 7p xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262749 ! Partial duplication of the short arm of chromosome 7 property_value: alternative:term "Distal duplication 7p" xsd:string property_value: alternative:term "Telomeric duplication 7p" xsd:string property_value: alternative:term "Trisomy 7pter" xsd:string [Term] id: Orphanet:96076 name: Beckwith-Wiedemann syndrome due to 11p15 microduplication xref: ICD10:Q87.3 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:116 ! Beckwith-Wiedemann syndrome relationship: part_of Orphanet:262785 ! Partial duplication of the short arm of chromosome 11 [Term] id: Orphanet:96078 name: 16p13.3 microduplication syndrome xref: ICD10:Q92.3 xref: OMIM:613458 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262794 ! Partial duplication of the short arm of chromosome 16 property_value: alternative:term "Distal duplication 16p" xsd:string property_value: alternative:term "Distal trisomy 16p" xsd:string property_value: alternative:term "Dup(16)(p13.3)" xsd:string property_value: alternative:term "Telomeric duplication 16p" xsd:string property_value: alternative:term "Trisomy 16pter" xsd:string [Term] id: Orphanet:96092 name: 8p inverted duplication/deletion syndrome xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:263708 ! Complex chromosomal rearrangement property_value: alternative:term "Invdupdel(8p)" xsd:string property_value: alternative:term "Inverted 8p duplication/deletion syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "inor facial anomalies and agenesis of the corpus callosum." xsd:string [Term] id: Orphanet:96094 name: Distal trisomy 2q xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262842 ! Partial duplication of the long arm of chromosome 2 property_value: alternative:term "Distal duplication 2q" xsd:string property_value: alternative:term "Telomeric duplication 2q" xsd:string property_value: alternative:term "Trisomy 2qter" xsd:string [Term] id: Orphanet:96095 name: 3q26 microduplication syndrome xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262851 ! Partial duplication of the long arm of chromosome 3 relationship: part_of Orphanet:98642 ! Chromosomal anomaly with cataract property_value: alternative:term "Cornelia de Lange-like syndrome" xsd:string property_value: alternative:term "Dup(3)(q26)" xsd:string property_value: alternative:term "Trisomy 3q26" xsd:string [Term] id: Orphanet:96096 name: Distal trisomy 4q xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262860 ! Partial duplication of the long arm of chromosome 4 property_value: alternative:term "Distal duplication 4q" xsd:string property_value: alternative:term "Telomeric duplication 4q" xsd:string property_value: alternative:term "Trisomy 4qter" xsd:string [Term] id: Orphanet:96097 name: Distal trisomy 5q xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262869 ! Partial trisomy of the long arm of chromosome 5 property_value: alternative:term "Distal duplication 5q" xsd:string property_value: alternative:term "Telomeric duplication 5q" xsd:string property_value: alternative:term "Trisomy 5qter" xsd:string [Term] id: Orphanet:96098 name: Distal trisomy 6q xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262878 ! Partial duplication of the long arm of chromosome 6 property_value: alternative:term "Distal duplication 6q" xsd:string property_value: alternative:term "Telomeric duplication 6q" xsd:string property_value: alternative:term "Trisomy 6qter" xsd:string [Term] id: Orphanet:96100 name: Distal trisomy 8q xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262896 ! Partial duplication of the long arm of chromosome 8 property_value: alternative:term "Distal duplication 8q" xsd:string property_value: alternative:term "Telomeric duplication 8q" xsd:string property_value: alternative:term "Trisomy 8qter" xsd:string [Term] id: Orphanet:96101 name: Distal trisomy 9q xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262905 ! Partial trisomy of the long arm of chromosome 9 property_value: alternative:term "Distal duplication 9q" xsd:string property_value: alternative:term "Telomeric duplication 9q" xsd:string property_value: alternative:term "Trisomy 9qter" xsd:string [Term] id: Orphanet:96102 name: Distal trisomy 10q xref: ICD10:Q92.3 xref: MESH:C538087 xref: UMLS:C2931728 xref: UMLS:C2931731 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262914 ! Partial duplication of the long arm of chromosome 10 relationship: part_of Orphanet:98642 ! Chromosomal anomaly with cataract property_value: alternative:term "Distal duplication 10q" xsd:string property_value: alternative:term "Telomeric duplication 10q" xsd:string property_value: alternative:term "Trisomy 10qter" xsd:string [Term] id: Orphanet:96103 name: Distal trisomy 11q xref: ICD10:Q92.3 xref: MESH:C538294 xref: UMLS:C2931797 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262923 ! Partial duplication of the long arm of chromosome 11 property_value: alternative:term "Distal duplication 11q" xsd:string property_value: alternative:term "Telomeric duplication 11q" xsd:string property_value: alternative:term "Trisomy 11qter" xsd:string [Term] id: Orphanet:96105 name: Distal trisomy 13q xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262932 ! Partial duplication of the long arm of chromosome 13 property_value: alternative:term "Distal duplication 13q" xsd:string property_value: alternative:term "Telomeric duplication 13q" xsd:string property_value: alternative:term "Trisomy 13qter" xsd:string [Term] id: Orphanet:96106 name: Distal trisomy 16q xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262959 ! Partial trisomy of the long arm of chromosome 16 property_value: alternative:term "Distal duplication 16q" xsd:string property_value: alternative:term "Telomeric duplication 16q" xsd:string property_value: alternative:term "Trisomy 16qter" xsd:string [Term] id: Orphanet:96107 name: Distal trisomy 20q xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262995 ! Partial trisomy of the long arm of chromosome 20 property_value: alternative:term "Distal duplication 20q" xsd:string property_value: alternative:term "Telomeric duplication 20q" xsd:string property_value: alternative:term "Trisomy 20qter" xsd:string [Term] id: Orphanet:96109 name: Distal trisomy 22q xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:263004 ! Partial duplication of the long arm of chromosome 22 property_value: alternative:term "Distal duplication 22q" xsd:string property_value: alternative:term "Telomeric duplication 22q" xsd:string property_value: alternative:term "Trisomy 22qter" xsd:string [Term] id: Orphanet:96112 name: Non-distal trisomy 9q xref: ICD10:Q92.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262905 ! Partial trisomy of the long arm of chromosome 9 property_value: alternative:term "Non-distal duplication 9q" xsd:string property_value: alternative:term "Non-telomeric trisomy 9q" xsd:string [Term] id: Orphanet:96121 name: 7q11.23 microduplication syndrome xref: ICD10:Q92.3 xref: OMIM:609757 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262887 ! Partial duplication of the long arm of chromosome 7 property_value: alternative:term "Dup(7)(q11.23)" xsd:string property_value: alternative:term "Trisomy 7q11.23" xsd:string [Term] id: Orphanet:96123 name: Monosomy 22 xref: ICD10:Q93.0 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98141 ! Total autosomal monosomy [Term] id: Orphanet:96125 name: Distal monosomy 6p xref: ICD10:Q93.5 xref: OMIM:612582 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:261902 ! Partial deletion of the short arm of chromosome 6 relationship: part_of Orphanet:98634 ! Iridogoniodysgenesis relationship: part_of Orphanet:98638 ! Rare disease with glaucoma as a major feature property_value: alternative:term "6p subtelomeric deletion syndrome" xsd:string property_value: alternative:term "6p25 microdeletion syndrome" xsd:string property_value: alternative:term "Distal deletion 6p" xsd:string property_value: alternative:term "Monosomy 6p25" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism." xsd:string [Term] id: Orphanet:96126 name: Distal monosomy 7p xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:261911 ! Partial deletion of the short arm of chromosome 7 property_value: alternative:term "Distal deletion 7p" xsd:string property_value: alternative:term "Monosomy 7pter" xsd:string property_value: alternative:term "Telomeric deletion 7p" xsd:string [Term] id: Orphanet:96129 name: Distal monosomy 19p13.3 xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:261983 ! Partial deletion of the short arm of chromosome 19 property_value: alternative:term "Distal deletion 19p" xsd:string property_value: alternative:term "Telomeric deletion 19p" xsd:string [Term] id: Orphanet:96136 name: Non-distal monosomy 7p xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:261911 ! Partial deletion of the short arm of chromosome 7 property_value: alternative:term "Non-distal deletion 7p" xsd:string property_value: alternative:term "Non-telomeric monosomy 7p" xsd:string [Term] id: Orphanet:96145 name: Distal monosomy 4q xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262029 ! Partial deletion of the long arm of chromosome 4 property_value: alternative:term "Distal deletion 4q" xsd:string property_value: alternative:term "Monosomy 4qter" xsd:string property_value: alternative:term "Telomeric deletion 4q" xsd:string [Term] id: Orphanet:96147 name: Kleefstra syndrome due to 9q34 microdeletion xref: ICD10:Q87.0 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:166469 ! Chromosomal anomaly with epilepsy as a major feature relationship: part_of Orphanet:261494 ! Kleefstra syndrome relationship: part_of Orphanet:262074 ! Partial monosomy of the long arm of chromosome 9 property_value: alternative:term "9q subtelomeric deletion syndrome" xsd:string property_value: alternative:term "9qSTDS" xsd:string property_value: alternative:term "Kleefstra syndrome due to 9q subtelomeric deletion" xsd:string property_value: alternative:term "Kleefstra syndrome due to del(9)(q34)" xsd:string property_value: alternative:term "Kleefstra syndrome due to monosomy 9q34" xsd:string [Term] id: Orphanet:96148 name: Distal monosomy 10q xref: ICD10:Q93.5 xref: OMIM:609625 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:262083 ! Partial monosomy of the long arm of chromosome 10 property_value: alternative:term "Distal deletion 10q" xsd:string property_value: alternative:term "Monosomy 10qter" xsd:string property_value: alternative:term "Telomeric deletion 10q" xsd:string [Term] id: Orphanet:96149 name: Distal monosomy 12q xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:261821 ! Partial deletion of the long arm of chromosome 12 property_value: alternative:term "Distal deletion 12q" xsd:string property_value: alternative:term "Monosomy 12qter" xsd:string property_value: alternative:term "Telomeric deletion 12q" xsd:string [Term] id: Orphanet:96150 name: Distal monosomy 14q xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262110 ! Partial deletion of the long arm of chromosome 14 property_value: alternative:term "Distal deletion 14q" xsd:string property_value: alternative:term "Telomeric deletion 14q" xsd:string [Term] id: Orphanet:96152 name: Distal monosomy 20q xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262164 ! Partial deletion of the long arm of chromosome 20 property_value: alternative:term "Distal deletion 20q" xsd:string property_value: alternative:term "Monosomy 20qter" xsd:string property_value: alternative:term "Telomeric deletion 20q" xsd:string [Term] id: Orphanet:96160 name: Non-distal monosomy 12q xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:261821 ! Partial deletion of the long arm of chromosome 12 property_value: alternative:term "Non-distal deletion 12q" xsd:string property_value: alternative:term "Non-telomeric monosomy 12q" xsd:string [Term] id: Orphanet:96164 name: Non-distal monosomy 20q xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:262164 ! Partial deletion of the long arm of chromosome 20 property_value: alternative:term "Non-distal deletion 20q" xsd:string property_value: alternative:term "Non-telomeric monosomy 20q" xsd:string [Term] id: Orphanet:96167 name: Recombinant 8 syndrome xref: ICD10:Q99.8 xref: OMIM:179613 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:263708 ! Complex chromosomal rearrangement property_value: alternative:term "Duplication 8q/deletion 8p" xsd:string property_value: alternative:term "Rec(8) syndrome" xsd:string property_value: alternative:term "Rec8 syndrome" xsd:string property_value: alternative:term "Recombinant chromosome 8 syndrome" xsd:string property_value: alternative:term "San Luis Valley syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism." xsd:string [Term] id: Orphanet:96168 name: Monosomy 13q34 xref: ICD10:Q93.5 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:262101 ! Partial deletion of the long arm of chromosome 13 relationship: part_of Orphanet:98642 ! Chromosomal anomaly with cataract property_value: alternative:term "Del(13)(q34)" xsd:string property_value: alternative:term "Distal deletion 13q34" xsd:string property_value: alternative:term "Subtelomeric deletion 13q34" xsd:string [Term] id: Orphanet:96169 name: Koolen-De Vries syndrome xref: ICD10:Q93.5 xref: OMIM:610443 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit property_value: alternative:term "KdVS" xsd:string [Term] id: Orphanet:96170 name: Emanuel syndrome xref: ICD10:Q92.6 xref: MESH:C535733 xref: OMIM:609029 xref: UMLS:C1836929 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:108979 ! Syndromic diaphragmatic or abdominal wall malformation relationship: part_of Orphanet:180779 ! Syndromic diaphragmatic or thoracic malformation relationship: part_of Orphanet:263708 ! Complex chromosomal rearrangement property_value: alternative:term "Der(22)t(11;22) syndrome" xsd:string property_value: alternative:term "Supernumerary der(22) syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities." xsd:string [Term] id: Orphanet:96171 name: Ring chromosome 2 xref: ICD10:Q93.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:363203 ! Ring chromosome [Term] id: Orphanet:96172 name: Ring chromosome 3 xref: ICD10:Q93.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:363203 ! Ring chromosome [Term] id: Orphanet:96173 name: Ring chromosome 9 xref: ICD10:Q93.2 xref: MESH:C538022 xref: SNOMED CT:60650002 xref: UMLS:C0265430 xref: UMLS:C2931693 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:363203 ! Ring chromosome [Term] id: Orphanet:96175 name: Ring chromosome 11 xref: ICD10:Q93.2 xref: SNOMED CT:111310003 xref: UMLS:C0265444 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:363203 ! Ring chromosome [Term] id: Orphanet:96176 name: Ring chromosome 13 xref: ICD10:Q93.2 xref: MESH:C538303 xref: UMLS:C2931808 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:363203 ! Ring chromosome [Term] id: Orphanet:96177 name: Ring chromosome 15 xref: ICD10:Q93.2 xref: MESH:C538035 xref: UMLS:C2931703 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:363203 ! Ring chromosome [Term] id: Orphanet:96178 name: Ring chromosome 16 xref: ICD10:Q93.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:363203 ! Ring chromosome [Term] id: Orphanet:96179 name: Maternal uniparental disomy of chromosome 2 xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98153 ! Uniparental disomy of maternal origin property_value: alternative:term "UPD(2)mat" xsd:string [Term] id: Orphanet:96180 name: Maternal uniparental disomy of chromosome 4 xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98153 ! Uniparental disomy of maternal origin property_value: alternative:term "UPD(4)mat" xsd:string [Term] id: Orphanet:96181 name: Maternal uniparental disomy of chromosome 6 xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98153 ! Uniparental disomy of maternal origin property_value: alternative:term "UPD(6)mat" xsd:string [Term] id: Orphanet:96182 name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 xref: ICD10:Q87.1 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:813 ! Silver-Russell syndrome relationship: part_of Orphanet:98153 ! Uniparental disomy of maternal origin property_value: alternative:term "UPD(7)mat" xsd:string [Term] id: Orphanet:96183 name: Maternal uniparental disomy of chromosome 9 xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98153 ! Uniparental disomy of maternal origin property_value: alternative:term "UPD(9)mat" xsd:string [Term] id: Orphanet:96184 name: Maternal uniparental disomy of chromosome 14 xref: ICD10:Q99.8 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:254516 ! Motor developmental delay due to 14q32.2 paternally expressed gene defect relationship: part_of Orphanet:98153 ! Uniparental disomy of maternal origin property_value: alternative:term "UPD(14)mat" xsd:string [Term] id: Orphanet:96185 name: Maternal uniparental disomy of chromosome 16 xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:117573 ! Syndromic anorectal malformation relationship: part_of Orphanet:98153 ! Uniparental disomy of maternal origin property_value: alternative:term "UPD(16)mat" xsd:string [Term] id: Orphanet:96186 name: Maternal uniparental disomy of chromosome 20 xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98153 ! Uniparental disomy of maternal origin property_value: alternative:term "UPD(20)mat" xsd:string [Term] id: Orphanet:96187 name: Maternal uniparental disomy of chromosome 21 xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98153 ! Uniparental disomy of maternal origin property_value: alternative:term "UPD(21)mat" xsd:string [Term] id: Orphanet:96188 name: Maternal uniparental disomy of chromosome 22 xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98153 ! Uniparental disomy of maternal origin property_value: alternative:term "UPD(22)mat" xsd:string [Term] id: Orphanet:96190 name: Paternal uniparental disomy of chromosome 5 xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98154 ! Uniparental disomy of paternal origin property_value: alternative:term "UPD(5)pat" xsd:string [Term] id: Orphanet:96191 name: Paternal uniparental disomy of chromosome 6 xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98154 ! Uniparental disomy of paternal origin property_value: alternative:term "UPD(6)pat" xsd:string [Term] id: Orphanet:96192 name: Paternal uniparental disomy of chromosome 7 xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98154 ! Uniparental disomy of paternal origin property_value: alternative:term "UPD(7)pat" xsd:string [Term] id: Orphanet:96193 name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 xref: ICD10:Q87.3 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:116 ! Beckwith-Wiedemann syndrome relationship: part_of Orphanet:98154 ! Uniparental disomy of paternal origin property_value: alternative:term "Mosaic paternal uniparental disomy of chromosome 11" xsd:string property_value: alternative:term "UPD(11)pat" xsd:string [Term] id: Orphanet:96194 name: Paternal uniparental disomy of chromosome 20 xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98154 ! Uniparental disomy of paternal origin property_value: alternative:term "UPD(20)pat" xsd:string [Term] id: Orphanet:96195 name: Paternal uniparental disomy of chromosome 21 xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98154 ! Uniparental disomy of paternal origin property_value: alternative:term "UPD(21)pat" xsd:string [Term] id: Orphanet:96201 name: X small rings xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:95710 ! Non-acquired premature ovarian failure relationship: part_of Orphanet:98159 ! Chromosome X structural anomaly [Term] id: Orphanet:96210 name: Rare genetic deafness is_a: Orphanet:68361 ! Rare deafness is_a: Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:96253 name: Cushing disease xref: ICD10:E24.0 xref: MEDDRA:10035109 xref: MESH:D047748 xref: OMIM:219090 xref: SNOMED CT:190502001 xref: UMLS:C0221406 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:314753 ! Functioning pituitary adenoma relationship: part_of Orphanet:99892 ! ACTH-dependent Cushing syndrome property_value: alternative:term "Corticotroph pituitary adenoma" xsd:string property_value: alternative:term "Pituitary corticotroph micro-adenoma" xsd:string property_value: alternative:term "Pituitary dependent Cushing syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma." xsd:string [Term] id: Orphanet:96256 name: Somatotroph adenoma xref: ICD10:D35.2 xref: ICD10:E22.0 xref: OMIM:102200 xref: SNOMED CT:254957009 is_a: Orphanet:314753 ! Functioning pituitary adenoma property_value: alternative:term "Somatotropinoma" xsd:string [Term] id: Orphanet:96263 name: 48,XXXY syndrome xref: ICD10:Q98.1 xref: MEDDRA:10048228 xref: SNOMED CT:78317008 xref: UMLS:C0265498 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:263720 ! X chromosome number anomaly with male phenotype relationship: part_of Orphanet:325546 ! Sex chromosome disorder of sex development relationship: part_of Orphanet:98048 ! Rare male infertility [Term] id: Orphanet:96264 name: 49,XXXXY syndrome xref: ICD10:Q98.1 xref: SNOMED CT:38847009 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:263720 ! X chromosome number anomaly with male phenotype relationship: part_of Orphanet:325546 ! Sex chromosome disorder of sex development relationship: part_of Orphanet:98048 ! Rare male infertility [Term] id: Orphanet:96265 name: Leydig cell hypoplasia due to complete LH resistance xref: ICD10:Q56.1 xref: OMIM:238320 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:755 ! Leydig cell hypoplasia property_value: alternative:term "46,XY disorder of sex development due to complete LH receptor inactivation" xsd:string property_value: alternative:term "46,XY disorder of sex development due to complete LH resistance" xsd:string property_value: alternative:term "46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation" xsd:string property_value: alternative:term "46,XY disorder of sex development due to complete luteinizing hormone resistance" xsd:string property_value: alternative:term "46,XY DSD due to complete LH receptor inactivation" xsd:string property_value: alternative:term "46,XY DSD due to complete LH resistance" xsd:string property_value: alternative:term "46,XY DSD due to complete luteinizing hormone receptor inactivation" xsd:string property_value: alternative:term "46,XY DSD due to complete luteinizing hormone resistance" xsd:string property_value: alternative:term "Leydig cel hypoplasia due to complete LH receptor inactivation" xsd:string property_value: alternative:term "Leydig cel hypoplasia due to complete luteinizing hormone receptor inactivation" xsd:string property_value: alternative:term "Leydig cel hypoplasia due to complete luteinizing hormone resistance" xsd:string [Term] id: Orphanet:96266 name: Leydig cell hypoplasia due to partial LH resistance xref: ICD10:Q56.1 xref: OMIM:238320 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:755 ! Leydig cell hypoplasia property_value: alternative:term "46,XY disorder of sex developement due to partial LH receptor inactivation" xsd:string property_value: alternative:term "46,XY disorder of sex developement due to partial LH resistance" xsd:string property_value: alternative:term "46,XY disorder of sex developement due to partial luteinizing hormone resistance" xsd:string property_value: alternative:term "46,XY DSD due to partial LH receptor inactivation" xsd:string property_value: alternative:term "46,XY DSD due to partial LH resistance" xsd:string property_value: alternative:term "46,XY DSD due to partial luteinizing hormone resistance" xsd:string property_value: alternative:term "Leydig cell hypoplasia due to partial LH receptor inactivation" xsd:string property_value: alternative:term "Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation" xsd:string property_value: alternative:term "Leydig cell hypoplasia due to partial luteinizing hormone resistance" xsd:string [Term] id: Orphanet:96269 name: Isolated partial vaginal agenesis xref: ICD10:Q52.0 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:180151 ! Rare vaginal malformation property_value: alternative:term "Absence of vagina" xsd:string property_value: alternative:term "Congenital absence of vagina" xsd:string [Term] id: Orphanet:963 name: Acromegaly xref: ICD10:E22.0 xref: MEDDRA:10000599 xref: MESH:D000172 xref: OMIM:102200 xref: SNOMED CT:74107003 xref: UMLS:C0001206 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:96256 ! Somatotroph adenoma property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations." xsd:string [Term] id: Orphanet:96321 name: Polyploidy xref: ICD10:Q92.7 xref: MESH:D011123 xref: SNOMED CT:48099008 xref: SNOMED CT:72991005 xref: UMLS:C0032578 is_a: Orphanet:68335 ! Chromosomal anomaly [Term] id: Orphanet:96325 name: Isochromosome Y xref: ICD10:Q98.6 is_a: Orphanet:98158 ! Chromosome Y structural anomaly [Term] id: Orphanet:96333 name: Rare otorhinolaryngological malformation is_a: Orphanet:155832 ! Rare head and neck malformation is_a: Orphanet:183583 ! Genetic head and neck malformation is_a: Orphanet:98036 ! Rare otorhinolaryngologic disease [Term] id: Orphanet:96334 name: Paternal uniparental disomy of chromosome 14 xref: ICD10:Q99.8 xref: MESH:C536471 xref: OMIM:608149 xref: UMLS:C1842466 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:254519 ! Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect relationship: part_of Orphanet:98154 ! Uniparental disomy of paternal origin property_value: alternative:term "UPD(14)pat" xsd:string [Term] id: Orphanet:96344 name: Rare gynecologic or obstetric disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:96346 name: Anorectal malformation is_a: Orphanet:183545 ! Genetic digestive tract malformation is_a: Orphanet:98039 ! Digestive tract malformation [Term] id: Orphanet:96369 name: Early-onset schizophrenia is_a: Orphanet:98033 ! Rare neurologic disease with psychiatric involvement [Term] id: Orphanet:964 name: Acromegaly - cutis verticis gyrata - corneal leukoma is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_2796 with label: Pachydermoperiostosis" xsd:string [Term] id: Orphanet:965 name: Acromegaloid facial appearance syndrome xref: ICD10:Q87.0 xref: MESH:C535655 xref: OMIM:102150 xref: UMLS:C0796280 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit [Term] id: Orphanet:968 name: Acromesomelic dysplasia, Hunter-Thomson type xref: ICD10:Q78.8 xref: OMIM:201250 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93437 ! Acromesomelic dysplasia property_value: alternative:term "Acromesomelic dwarfism" xsd:string [Term] id: Orphanet:969 name: Acromicric dysplasia xref: ICD10:Q77.8 xref: MESH:C535662 xref: OMIM:102370 xref: SNOMED CT:254090007 xref: UMLS:C0265287 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:93436 ! Acromelic dysplasia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands." xsd:string [Term] id: Orphanet:97 name: Familial paroxysmal ataxia xref: ICD10:G11.8 xref: OMIM:108500 xref: SNOMED CT:420932006 xref: UMLS:C1720416 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:211062 ! Hereditary episodic ataxia property_value: alternative:term "Episodic ataxia type 2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia." xsd:string [Term] id: Orphanet:970 name: Hereditary sensory and autonomic neuropathy type 2 xref: ICD10:G60.8 xref: OMIM:201300 xref: OMIM:613115 xref: OMIM:614213 xref: SNOMED CT:398148000 xref: UMLS:C0270914 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:140477 ! Autosomal recessive hereditary sensory and autonomic neuropathy property_value: alternative:term "Autosomal recessive sensory radicular neuropathy" xsd:string property_value: alternative:term "HSAN2" xsd:string property_value: alternative:term "Neurogenic acroosteolysis" xsd:string [Term] id: Orphanet:971 name: Acrorenal syndrome xref: ICD10:Q87.2 xref: OMIM:102520 xref: OMIM:201310 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The acro-renal syndrome is defined by the association of limb deficiency (ectrodactyly in most of the cases) and renal anomalies (uni- or bilateral renal agenesis or hypoplasia)." xsd:string [Term] id: Orphanet:97120 name: Distal arthrogryposis xref: SNOMED CT:24269006 xref: UMLS:C0265213 is_a: Orphanet:109007 ! Arthrogryposis syndrome [Term] id: Orphanet:972 name: Hereditary continuous muscle fiber activity xref: ICD10:G71.1 xref: OMIM:160120 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:206656 ! Non-dystrophic myopathy property_value: alternative:term "Isaacs-Mertens syndrome" xsd:string [Term] id: Orphanet:97214 name: Eisenmenger syndrome xref: ICD10:I27.2 xref: MEDDRA:10058554 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:275803 ! Pulmonary arterial hypertension associated with congenital heart disease [Term] id: Orphanet:97229 name: Riboflavin transporter deficiency xref: ICD10:G12.1 xref: MESH:C537111 xref: OMIM:211530 xref: OMIM:614707 xref: UMLS:C0796274 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206704 ! Bulbospinal muscular atrophy of children relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "Brown-Vialetto-van Laere syndrome" xsd:string property_value: alternative:term "Sensorineural hearing loss - pontobulbar palsy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." xsd:string [Term] id: Orphanet:97230 name: Solar urticaria xref: ICD10:L56.3 xref: MEDDRA:10041307 xref: SNOMED CT:10347006 xref: UMLS:C0263610 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:79390 ! Rare photodermatosis [Term] id: Orphanet:97231 name: Ligneous conjunctivitis xref: ICD10:H10.4 xref: OMIM:217090 xref: SNOMED CT:403435005 xref: UMLS:C1274789 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:182214 ! Rare inflammatory eye disease relationship: part_of Orphanet:98610 ! Rare conjunctival disease property_value: alternative:term "Conjunctivitis lignosa" xsd:string [Term] id: Orphanet:97232 name: Fingerprint body myopathy xref: ICD10:G71.2 xref: OMIM:305550 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:97245 ! Congenital myopathy [Term] id: Orphanet:97234 name: Glycogen storage disease due to phosphoglycerate mutase deficiency xref: ICD10:E74.0 xref: OMIM:261670 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206959 ! Muscular glycogenosis relationship: part_of Orphanet:79201 ! Glycogen storage disease property_value: alternative:term "Glycogenosis due to phosphoglycerate mutase deficiency" xsd:string property_value: alternative:term "GSD due to phosphoglycerate mutase deficiency" xsd:string property_value: alternative:term "Muscle phosphoglycerate mutase deficiency" xsd:string property_value: alternative:term "Myopathy due to phosphoglycerate mutase deficiency" xsd:string [Term] id: Orphanet:97238 name: Rippling muscle disease xref: ICD10:G71.8 xref: MEDDRA:10069417 xref: MESH:C535685 xref: OMIM:600332 xref: OMIM:606072 xref: UMLS:C1853698 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:206656 ! Non-dystrophic myopathy relationship: part_of Orphanet:207078 ! Qualitative or quantitative defects of caveolin-3 [Term] id: Orphanet:97239 name: Reducing body myopathy xref: ICD10:G71.2 xref: OMIM:300717 xref: OMIM:300718 xref: SNOMED CT:42779002 xref: UMLS:C0270970 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:97245 ! Congenital myopathy [Term] id: Orphanet:97240 name: Zebra body myopathy xref: ICD10:G71.2 xref: SNOMED CT:34513009 xref: UMLS:C0270969 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:97245 ! Congenital myopathy [Term] id: Orphanet:97242 name: Congenital muscular dystrophy xref: ICD10:G71.2 xref: SNOMED CT:240059009 xref: UMLS:C0699743 is_a: Orphanet:98473 ! Muscular dystrophy relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "CMD" xsd:string property_value: alternative:term "MDC" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " and Nesprin-1-related CMD; see these terms)." xsd:string [Term] id: Orphanet:97244 name: Rigid spine syndrome xref: ICD10:G71.2 xref: MESH:C535683 xref: OMIM:602771 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:209041 ! Qualitative or quantitative defects of desmin relationship: part_of Orphanet:209193 ! Qualitative or quantitative defects of selenoprotein N1 relationship: part_of Orphanet:97242 ! Congenital muscular dystrophy [Term] id: Orphanet:97245 name: Congenital myopathy xref: ICD10:G71.2 xref: MEDDRA:10062547 xref: UMLS:C0270960 is_a: Orphanet:206656 ! Non-dystrophic myopathy [Term] id: Orphanet:97249 name: Pontocerebellar hypoplasia type 3 xref: ICD10:Q04.3 xref: MESH:C548072 xref: OMIM:608027 xref: UMLS:C1842687 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98523 ! Nonsyndromic pontocerebellar hypoplasia relationship: part_of Orphanet:98666 ! Unclassified primitive or secondary maculopathy property_value: alternative:term "Cerebellar atrophy with progressive microcephaly" xsd:string property_value: alternative:term "CLAM" xsd:string property_value: alternative:term "PCH with optic atrophy" xsd:string property_value: alternative:term "PCH without dyskinesia" xsd:string property_value: alternative:term "PCH3" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3." xsd:string [Term] id: Orphanet:97252 name: Mega-cisterna magna xref: ICD10:Q07.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98520 ! Cystic malformation of the posterior fossa [Term] id: Orphanet:97253 name: Pancreatic endocrine tumor xref: ICD10:E16.8 is_a: Orphanet:100092 ! Enteropancreatic endocrine tumor is_a: Orphanet:180824 ! Pancreatic tumor [Term] id: Orphanet:97261 name: GRFoma xref: ICD10:E16.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:97253 ! Pancreatic endocrine tumor property_value: alternative:term "GRF tumor" xsd:string property_value: alternative:term "Growth hormone releasing factor tumor" xsd:string [Term] id: Orphanet:97275 name: Encephalitis xref: MEDDRA:10014581 xref: MESH:D004660 xref: SNOMED CT:45170000 xref: UMLS:C0014038 is_a: Orphanet:102005 ! Brain inflammatory disease [Term] id: Orphanet:97278 name: PPoma xref: ICD10:E16.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:97253 ! Pancreatic endocrine tumor property_value: alternative:term "Pancreatic polypeptidoma" xsd:string [Term] id: Orphanet:97279 name: Insulinoma xref: ICD10:E16.8 xref: MEDDRA:10022498 xref: MESH:D007340 xref: SNOMED CT:25324008 xref: SNOMED CT:302822000 xref: UMLS:C0021670 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:97253 ! Pancreatic endocrine tumor property_value: alternative:term "Insuloma" xsd:string [Term] id: Orphanet:97280 name: Glucagonoma xref: ICD10:E16.8 xref: MEDDRA:10018404 xref: MESH:D005935 xref: SNOMED CT:128855009 xref: SNOMED CT:16424000 xref: SNOMED CT:302823005 xref: UMLS:C0017689 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:97253 ! Pancreatic endocrine tumor [Term] id: Orphanet:97282 name: VIPoma xref: ICD10:E16.8 xref: MEDDRA:10047430 xref: MESH:D003969 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:97253 ! Pancreatic endocrine tumor property_value: alternative:term "Diarrheogenic islet cell tumor" xsd:string property_value: alternative:term "Pancreatic cholera" xsd:string property_value: alternative:term "Verner-Morrison syndrome" xsd:string property_value: alternative:term "VIP-secreting tumor" xsd:string property_value: alternative:term "Watery diarrhea - hypokalemia - achlorhydria" xsd:string property_value: alternative:term "Watery diarrhea - hypokalemic alkalosis" xsd:string property_value: alternative:term "WDHA syndrome" xsd:string [Term] id: Orphanet:97283 name: Somatostatinoma xref: ICD10:E16.8 xref: MEDDRA:10041329 xref: MESH:D013005 xref: SNOMED CT:128642005 xref: SNOMED CT:253006001 xref: UMLS:C0037661 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:97253 ! Pancreatic endocrine tumor [Term] id: Orphanet:97285 name: Thyroid lymphoma is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100087 ! Thyroid tumor relationship: part_of Orphanet:279911 ! Primary organ-specific lymphoma [Term] id: Orphanet:97286 name: Carney-Stratakis syndrome xref: ICD10:D44.8 xref: OMIM:606864 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:100094 ! Multiple polyglandular tumor property_value: alternative:term "Carney dyad" xsd:string property_value: alternative:term "Carney-Stratakis dyad" xsd:string property_value: alternative:term "GIST-paraganglioma dyad" xsd:string property_value: alternative:term "Paraganglioma and gastric stromal sarcoma" xsd:string [Term] id: Orphanet:97287 name: Bronchial endocrine tumor xref: ICD10:D38.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100101 ! Endocrine tumor with other location relationship: part_of Orphanet:101945 ! Rare bronchopulmonary tumor property_value: alternative:term "Bronchial carcinoid tumor" xsd:string property_value: alternative:term "Bronchial neuroendocrine tumor" xsd:string [Term] id: Orphanet:97289 name: Thymic endocrine tumor xref: ICD10:D38.4 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100100 ! Thymic tumor relationship: part_of Orphanet:877 ! Endocrine tumor property_value: alternative:term "Carcinoid tumor of the thymus" xsd:string property_value: alternative:term "Thymic neuroendocrine tumor" xsd:string [Term] id: Orphanet:97290 name: Familial papillary thyroid carcinoma with renal papillary neoplasia xref: ICD10:C73 xref: OMIM:605642 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100088 ! Thyroid carcinoma relationship: part_of Orphanet:151 ! Familial renal cell carcinoma relationship: part_of Orphanet:319494 ! Familial nonmedullary thyroid carcinoma property_value: alternative:term "PTC-RCC" xsd:string [Term] id: Orphanet:97293 name: Rare benign ovarian tumor xref: ICD10:D27 is_a: Orphanet:180220 ! Rare uterine adnexal tumor [Term] id: Orphanet:97295 name: Furlong syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_60030 with label: Loeys-Dietz syndrome type 1" xsd:string [Term] id: Orphanet:97297 name: Bohring-Opitz syndrome xref: ICD10:Q87.8 xref: OMIM:605039 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly property_value: alternative:term "Bohring syndrome" xsd:string property_value: alternative:term "BOS syndrome" xsd:string property_value: alternative:term "C-like syndrome" xsd:string property_value: alternative:term "Oberklaid-Danks syndrome" xsd:string property_value: alternative:term "Opitz trigonocephaly-like syndrome" xsd:string [Term] id: Orphanet:973 name: Congenital absence/hypoplasia of fingers excluding thumb, unilateral xref: ICD10:Q71.3 xref: OMIM:102650 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:294990 ! Congenital absence/hypoplasia of fingers excluding thumb property_value: alternative:term "Adactylia of hand, unilateral" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia)." xsd:string [Term] id: Orphanet:97330 name: Thoracic outlet syndrome xref: ICD10:G54.0 xref: MEDDRA:10048627 xref: MESH:D013901 xref: SNOMED CT:128210009 xref: UMLS:C0039984 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:97962 ! Rare surgical thoracic disease property_value: alternative:term "Thoracic outlet compression syndrome" xsd:string property_value: alternative:term "TOS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Thoracic outlet syndrome (TOS) is a group of disorders characterized by paresthesias, pain and weakness of the upper extremities due to compression, tension or inflammation of the neurovascular bundle as it passes through the thoracic outlet. There are 3 forms of TOS with different clinical pictures and etiologies: neurogenic TOS (NTOS) that can be divided into true or disputed forms, arterial TOS (ATOS) and venous TOS (VTOS) (see these terms)." xsd:string [Term] id: Orphanet:97332 name: Kienbock disease xref: ICD10:M93.2 xref: MEDDRA:10064242 xref: SNOMED CT:360466009 xref: SNOMED CT:367356000 xref: UMLS:C0022682 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:2764 ! Osteochondritis dissecans property_value: alternative:term "Aseptic necrosis of the lunate bone" xsd:string property_value: alternative:term "Lunatomalacia" xsd:string property_value: alternative:term "Osteochondritis of the lunate bone" xsd:string property_value: alternative:term "Osteochondrosis of the lunate bone" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function." xsd:string [Term] id: Orphanet:97335 name: Osgood-Schlatter disease xref: ICD10:M93.2 xref: MEDDRA:10031130 xref: SNOMED CT:72047008 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:2764 ! Osteochondritis dissecans property_value: alternative:term "Aseptic necrosis of the tibial tubercle" xsd:string property_value: alternative:term "Osteochondritis of the tibial tubercle" xsd:string property_value: alternative:term "Osteochondrosis of the tibial tubercle" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Osgood-Schlatter disease is a traction apophysitis of the anterior tibial tubercle described in active adolescents and characterized by gradual onset of pain and swelling of the anterior knee causing limping that usually disappears at the end of growth." xsd:string [Term] id: Orphanet:97336 name: Panner disease xref: ICD10:M93.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2764 ! Osteochondritis dissecans property_value: alternative:term "Aseptic necrosis of the capital humerus" xsd:string property_value: alternative:term "Osteochondrosis of the capital humerus" xsd:string [Term] id: Orphanet:97337 name: Sinding-Larsen-Johansson disease xref: ICD10:M92.4 xref: MEDDRA:10063585 xref: SNOMED CT:203389008 xref: UMLS:C0264096 xref: UMLS:C1504517 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2764 ! Osteochondritis dissecans property_value: alternative:term "Aseptic necrosis of patella" xsd:string property_value: alternative:term "Osteochondrosis of patella" xsd:string [Term] id: Orphanet:97338 name: Melanoma of soft part is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:71209 ! Rare soft tissue tumor property_value: alternative:term "Clear cell sarcoma of soft tissue" xsd:string property_value: alternative:term "Clear cell sarcoma of the tendons and aponeuroses" xsd:string [Term] id: Orphanet:97339 name: Dural sinus malformation xref: ICD10:Q28.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:102006 ! Neurovascular malformation property_value: alternative:term "Cranial dural arteriovenous fistula" xsd:string property_value: alternative:term "Cranial dural arteriovenous malformations" xsd:string [Term] id: Orphanet:97340 name: Hunter-McAlpine craniosynostosis xref: ICD10:Q87.0 xref: MESH:C536072 xref: OMIM:601379 xref: UMLS:C1832408 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139393 ! Syndromic craniosynostosis [Term] id: Orphanet:97341 name: Persistent placoid maculopathy is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101949 ! Rare acquired eye disease [Term] id: Orphanet:97342 name: Argyrophilic grain disease xref: ICD10:G31.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:98534 ! Neurodegenerative disease with dementia property_value: alternative:term "Braak disease" xsd:string [Term] id: Orphanet:97345 name: Familial dementia, British type xref: ICD10:G31.0 xref: MESH:C538208 xref: OMIM:176500 xref: UMLS:C1867773 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:276058 ! Genetic neurodegenerative disease with dementia relationship: part_of Orphanet:98534 ! Neurodegenerative disease with dementia [Term] id: Orphanet:97346 name: Familial dementia, Danish type xref: ICD10:G31.0 xref: MESH:C538209 xref: OMIM:117300 xref: UMLS:C1861735 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:276058 ! Genetic neurodegenerative disease with dementia relationship: part_of Orphanet:98534 ! Neurodegenerative disease with dementia [Term] id: Orphanet:97349 name: Postencephalitic parkinsonism xref: ICD10:F02.3 xref: ICD10:G20 xref: SNOMED CT:19972008 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:306666 ! Rare parkinsonian syndrome due to neurodegenerative disease relationship: part_of Orphanet:98542 ! Infectious disease with dementia [Term] id: Orphanet:97352 name: Pellagra xref: ICD10:E52 xref: MEDDRA:10029400 xref: MESH:D010383 xref: SNOMED CT:418186002 xref: SNOMED CT:418279001 xref: UMLS:C0030783 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:90077 ! Other acquired skin disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management." xsd:string [Term] id: Orphanet:97353 name: Dementia pugilistica is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:89043 ! Rare dementia property_value: alternative:term "Boxer's dementia" xsd:string property_value: alternative:term "Chronic traumatic encephalopathy" xsd:string property_value: alternative:term "Punch-drunk syndrome" xsd:string [Term] id: Orphanet:97355 name: Parkinsonism with dementia of Guadeloupe xref: ICD10:F02.3 xref: ICD10:G20 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:306666 ! Rare parkinsonian syndrome due to neurodegenerative disease relationship: part_of Orphanet:89043 ! Rare dementia [Term] id: Orphanet:97360 name: Robinow syndrome xref: ICD10:Q87.1 xref: OMIM:180700 xref: OMIM:268310 xref: SNOMED CT:76520005 xref: UMLS:C0265205 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:93438 ! Mesomelic and rhizo-mesomelic dysplasia property_value: alternative:term "Acral dysostosis with facial and genital abnormalities" xsd:string property_value: alternative:term "Fetal face syndrome" xsd:string property_value: alternative:term "Mesomelic dwarfism-small genitalia syndrome" xsd:string property_value: alternative:term "Robinow dwarfism" xsd:string property_value: alternative:term "Robinow-Silverman-Smith syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia." xsd:string [Term] id: Orphanet:97361 name: Unilateral renal hypoplasia xref: ICD10:Q60.3 xref: SNOMED CT:204948009 xref: UMLS:C0431691 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93101 ! Renal hypoplasia [Term] id: Orphanet:97362 name: Bilateral renal hypoplasia xref: ICD10:Q60.4 xref: SNOMED CT:268232000 xref: UMLS:C0431692 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:93101 ! Renal hypoplasia [Term] id: Orphanet:97363 name: Unilateral multicystic renal dysplasia xref: ICD10:Q61.4 xref: MESH:D021782 xref: UMLS:C1567426 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:1851 ! Multicystic renal dysplasia [Term] id: Orphanet:97364 name: Bilateral multicystic renal dysplasia xref: ICD10:Q61.4 xref: MESH:C537373 xref: MESH:D021782 xref: OMIM:143400 xref: UMLS:C1567427 xref: UMLS:C1840451 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:1851 ! Multicystic renal dysplasia [Term] id: Orphanet:97366 name: Multiloculated renal cyst is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:93619 ! Rare renal tumor property_value: alternative:term "Multilocular cyst of the kidney" xsd:string property_value: alternative:term "Multilocular renal cyst" xsd:string [Term] id: Orphanet:97367 name: Renal tubular dysgenesis due to twin-twin transfusion xref: ICD10:Q63.8 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:3033 ! Renal tubular dysgenesis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "'Renal tubular dysgenesis due to twin-twin transfusion syndrome (TTTS; see this term) is an acquired form of renal tubular dysgenesis (see this term) that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).'" xsd:string [Term] id: Orphanet:97368 name: Renal tubular dysgenesis drugs-related xref: ICD10:Q63.8 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:3033 ! Renal tubular dysgenesis [Term] id: Orphanet:97369 name: Renal tubular dysgenesis of genetic origin xref: ICD10:Q63.8 xref: OMIM:267430 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:3033 ! Renal tubular dysgenesis relationship: part_of Orphanet:357506 ! Genetic nonsyndromic renal or urinary tract malformation [Term] id: Orphanet:974 name: Adams-Oliver syndrome xref: ICD10:Q87.2 xref: MESH:C538225 xref: OMIM:100300 xref: OMIM:614219 xref: OMIM:614814 xref: OMIM:615297 xref: SNOMED CT:34748004 xref: UMLS:C0265268 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:183481 ! Genetic mixed dermis disorder relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:79380 ! Mixed dermis disorder property_value: alternative:term "AOS" xsd:string property_value: alternative:term "Congenital scalp defects with distal limb anomalies" xsd:string property_value: alternative:term "Congenital scalp defects with distal limb reduction anomalies" xsd:string property_value: alternative:term "Limb, scalp and skull defects" xsd:string [Term] id: Orphanet:97548 name: Ivemark syndrome xref: ICD10:Q89.3 xref: MEDDRA:10068335 xref: OMIM:208530 xref: SNOMED CT:17604001 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:450 ! Heterotaxia relationship: part_of Orphanet:93547 ! Syndromic renal or urinary tract malformation [Term] id: Orphanet:97552 name: Steroid-sensitive nephrotic syndrome without renal biopsy is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:69061 ! Idiopathic steroid-sensitive nephrotic syndrome [Term] id: Orphanet:97555 name: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy xref: ICD10:N04.8 is_a: Orphanet:84271 ! Sporadic idiopathic steroid-resistant nephrotic syndrome [Term] id: Orphanet:97556 name: Congenital and infantile nephrotic syndrome xref: ICD10:N04 is_a: Orphanet:102373 ! Primary glomerular disease [Term] id: Orphanet:97557 name: Chronic proteinuria with focal and segmental hyalinosis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:102373 ! Primary glomerular disease property_value: alternative:term "Permanent proteinuria with focal and segmental hyalinosis without nephrotic syndrome" xsd:string [Term] id: Orphanet:97560 name: Idiopathic membranous glomerulonephritis xref: OMIM:614692 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:102373 ! Primary glomerular disease [Term] id: Orphanet:97563 name: Pauci-immune glomerulonephritis with ANCA xref: ICD10:N05.7 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:93126 ! Pauci-immune glomerulonephritis [Term] id: Orphanet:97564 name: Pauci-immune glomerulonephritis without ANCA xref: ICD10:N05.7 is_a: Orphanet:93126 ! Pauci-immune glomerulonephritis [Term] id: Orphanet:97566 name: Non-amyloid fibrillary glomerulopathy xref: ICD10:N03.6 is_a: Orphanet:91137 ! Immunotactoid or fibrillary glomerulopathy property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Nonamyloid fibrillary glomerulopathy is rare idiopathic glomerulopathy caused by polyclonal IgG4 derived deposits, characterized by renal insufficiency, microhematuria and nephritic range proteinuria and on electron microscopy by the presence of fibrils varying between 15 and 20 nm in size. It is often grouped with immunotactoid glomerulopathy (see this term)." xsd:string [Term] id: Orphanet:97567 name: Immunotactoid glomerulopathy xref: ICD10:N03.6 is_a: Orphanet:91137 ! Immunotactoid or fibrillary glomerulopathy [Term] id: Orphanet:97569 name: Unclassified glomerulonephritis is_a: Orphanet:93551 ! Secondary glomerular disease [Term] id: Orphanet:97593 name: Pseudohypoparathyroidism xref: ICD10:E20.1 xref: MEDDRA:10037126 xref: MESH:D011547 xref: SNOMED CT:58976002 xref: UMLS:C0033806 is_a: Orphanet:139009 ! Developmental anomaly of metabolic origin is_a: Orphanet:181405 ! Rare hypoparathyroidism is_a: Orphanet:183592 ! Genetic renal tubular disease is_a: Orphanet:208593 ! Genetic hypoparathyroidism is_a: Orphanet:93603 ! Rare renal tubular disease [Term] id: Orphanet:97598 name: Congenital renal artery stenosis xref: ICD10:Q27.1 xref: SNOMED CT:271432005 xref: UMLS:C0495523 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:93618 ! Rare cause of hypertension property_value: alternative:term "Congenital renovascular hypoplasia" xsd:string [Term] id: Orphanet:97599 name: Arterial hypertension due to renal artery stenosis secondary to vasculitis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:93618 ! Rare cause of hypertension [Term] id: Orphanet:976 name: Adenine phosphoribosyltransferase deficiency xref: ICD10:E79.8 xref: OMIM:614723 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:79191 ! Disorder of purine metabolism relationship: part_of Orphanet:93593 ! Nephropathy secondary to a storage or other metabolic disease property_value: alternative:term "2,8-dihydroxyadenine urolithiasis" xsd:string property_value: alternative:term "APRT deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy." xsd:string [Term] id: Orphanet:97668 name: Neonatal membranous glomerulopathy with maternal NEP deficiency is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:69063 ! Membranous congenital glomerulonephritis due to anti-maternal neutral endopeptidase alloimmunization [Term] id: Orphanet:97678 name: Maternal uniparental disomy of chromosome 13 xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98153 ! Uniparental disomy of maternal origin property_value: alternative:term "UPD(13)mat" xsd:string [Term] id: Orphanet:97685 name: 17q11 microdeletion syndrome xref: ICD10:Q85.0 xref: OMIM:613675 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:262137 ! Partial deletion of the long arm of chromosome 17 relationship: part_of Orphanet:636 ! Neurofibromatosis type 1 property_value: alternative:term "Del(17)(q11)" xsd:string property_value: alternative:term "Monosomy 17q11" xsd:string property_value: alternative:term "Neurofibromatosis type 1 microdeletion syndrome" xsd:string property_value: alternative:term "NF1 microdeletion syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "17q11 microdeletion syndrome is a rare severe form of Neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay, intellectualdeficit, and large number of neurofibromas." xsd:string [Term] id: Orphanet:977 name: Adrenomyodystrophy xref: MESH:C538051 xref: OMIM:300270 xref: UMLS:C1846044 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:101960 ! Genetic chronic primary adrenal insufficiency [Term] id: Orphanet:978 name: ADULT syndrome xref: ICD10:Q87.2 xref: MESH:C538052 xref: OMIM:103285 xref: UMLS:C1863204 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:98609 ! EEC syndrome and related syndrome property_value: alternative:term "Acro-dermato-ungual-lacrimal-tooth syndrome" xsd:string property_value: alternative:term "Pigment anomaly - ectrodactyly - hypodontia" xsd:string [Term] id: Orphanet:97927 name: Peripheral resistance to thyroid hormones xref: ICD10:E03.1 xref: OMIM:609893 xref: OMIM:614450 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:226310 ! Peripheral hypothyroidism relationship: part_of Orphanet:442 ! Congenital hypothyroidism property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth." xsd:string [Term] id: Orphanet:97929 name: Rare cardiac disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:97935 name: Rare gastroenterologic disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:97944 name: Gastroduodenal malformation is_a: Orphanet:183545 ! Genetic digestive tract malformation is_a: Orphanet:98039 ! Digestive tract malformation [Term] id: Orphanet:97945 name: Intestinal malformation is_a: Orphanet:183545 ! Genetic digestive tract malformation is_a: Orphanet:98039 ! Digestive tract malformation [Term] id: Orphanet:97955 name: Rare respiratory disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:97957 name: Respiratory or thoracic malformation is_a: Orphanet:97955 ! Rare respiratory disease [Term] id: Orphanet:97962 name: Rare surgical thoracic disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:97965 name: Rare surgical cardiac disease is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis [Term] id: Orphanet:97966 name: Rare eye disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:97978 name: Rare endocrine disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:97992 name: Rare hematologic disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:98 name: Autosomal recessive spastic ataxia of Charlevoix-Saguenay xref: ICD10:G11.1 xref: MESH:C536787 xref: OMIM:270550 xref: UMLS:C1849140 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:316240 ! Autosomal recessive spastic ataxia property_value: alternative:term "ARSACS" xsd:string [Term] id: Orphanet:980 name: Absence of the pulmonary artery xref: ICD10:Q25.7 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98719 ! Pulmonary artery or pulmonary branch anomaly [Term] id: Orphanet:98004 name: Rare immune disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:98006 name: Rare neurologic disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome property_value: alternative:term "Rare nervous system disease" xsd:string [Term] id: Orphanet:98010 name: Infectious disease of the nervous system xref: SNOMED CT:128116006 xref: UMLS:C0597039 is_a: Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:98022 name: Rare headache is_a: Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:98023 name: Rare systemic or rheumatologic disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:98026 name: Rare odontologic disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:98027 name: Rare disease with odontological manifestation is_a: Orphanet:98026 ! Rare odontologic disease [Term] id: Orphanet:98028 name: Rare circulatory system disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:98033 name: Rare neurologic disease with psychiatric involvement is_a: Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:98036 name: Rare otorhinolaryngologic disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:98038 name: Cranial malformation is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis [Term] id: Orphanet:98039 name: Digestive tract malformation is_a: Orphanet:165711 ! Rare abdominal surgical disease is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis [Term] id: Orphanet:98041 name: Visceral malformation of the liver, biliary tract, pancreas or spleen is_a: Orphanet:165711 ! Rare abdominal surgical disease is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis [Term] id: Orphanet:98043 name: Diaphragmatic or abdominal wall malformation is_a: Orphanet:165711 ! Rare abdominal surgical disease is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis [Term] id: Orphanet:98044 name: Central nervous system malformation is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis is_a: Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:98045 name: Respiratory or mediastinal malformation is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis [Term] id: Orphanet:98047 name: Rare infertility disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:98048 name: Rare male infertility xref: ICD10:N46 is_a: Orphanet:98047 ! Rare infertility disease [Term] id: Orphanet:98049 name: Rare female infertility is_a: Orphanet:98047 ! Rare infertility disease [Term] id: Orphanet:98050 name: Rare allergic disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:98052 name: Rare allergic respiratory disease is_a: Orphanet:98050 ! Rare allergic disease [Term] id: Orphanet:98053 name: Rare genetic disease is_a: Orphanet:377794 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! group of phenome [Term] id: Orphanet:98054 name: Rare genetic cardiac disease is_a: Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:98056 name: Rare genetic renal disease is_a: Orphanet:98053 ! Rare genetic disease [Term] id: Orphanet:98057 name: Rare tumor is_a: Orphanet:250908 ! Rare oncologic disease property_value: alternative:term "Rare cancer" xsd:string property_value: alternative:term "Rare neoplasm" xsd:string [Term] id: Orphanet:98058 name: Rare urinary tract tumor is_a: Orphanet:182114 ! Rare urogenital tumor property_value: alternative:term "Rare urinary tract cancer" xsd:string property_value: alternative:term "Rare urinary tract neoplasm" xsd:string [Term] id: Orphanet:98059 name: Rare digestive tumor is_a: Orphanet:98057 ! Rare tumor property_value: alternative:term "Rare digestive cancer" xsd:string property_value: alternative:term "Rare digestive neoplasm" xsd:string [Term] id: Orphanet:98060 name: Rare respiratory tumor is_a: Orphanet:97955 ! Rare respiratory disease is_a: Orphanet:98057 ! Rare tumor property_value: alternative:term "Rare respiratory cancer" xsd:string property_value: alternative:term "Rare respiratory neoplasm" xsd:string [Term] id: Orphanet:98061 name: Rare otorhinolaryngologic tumor is_a: Orphanet:98036 ! Rare otorhinolaryngologic disease is_a: Orphanet:98057 ! Rare tumor property_value: alternative:term "Rare ORL cancer" xsd:string property_value: alternative:term "Rare ORL neoplasm" xsd:string property_value: alternative:term "Rare ORL tumor" xsd:string [Term] id: Orphanet:98062 name: Rare nervous system tumor is_a: Orphanet:98006 ! Rare neurologic disease is_a: Orphanet:98057 ! Rare tumor property_value: alternative:term "Rare nervous system neoplasm" xsd:string [Term] id: Orphanet:98063 name: Rare gynecological tumor is_a: Orphanet:96344 ! Rare gynecologic or obstetric disease is_a: Orphanet:98057 ! Rare tumor property_value: alternative:term "Rare gynaecological cancer" xsd:string property_value: alternative:term "Rare gynaecological neoplasm" xsd:string [Term] id: Orphanet:98074 name: Gonadal dysgenesis of gynecological interest is_a: Orphanet:325620 ! Disorder of sex development of gynecological interest is_a: Orphanet:325665 ! Genetic disorder of sex development of gynecological interest [Term] id: Orphanet:98078 name: 46,XX disorder of sex development induced by androgens excess is_a: Orphanet:2982 ! 46,XX disorder of sex development is_a: Orphanet:325620 ! Disorder of sex development of gynecological interest property_value: alternative:term "46,XX DSD induced by androgens excess" xsd:string [Term] id: Orphanet:98085 name: 46,XY disorder of sex development xref: MESH:D058490 xref: UMLS:C2751824 is_a: Orphanet:90771 ! Disorder of sex development property_value: alternative:term "46,XY DSD" xsd:string [Term] id: Orphanet:98086 name: 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue is_a: Orphanet:325357 ! 46,XY disorder of sex development due to impaired androgen production is_a: Orphanet:325632 ! 46,XY disorder of sex development of gynecological interest [Term] id: Orphanet:98087 name: Syndrome with 46,XY disorder of sex development is_a: Orphanet:325706 ! Genetic 46,XY disorder of sex development is_a: Orphanet:98085 ! 46,XY disorder of sex development property_value: alternative:term "Syndrome with 46,XY DSD" xsd:string [Term] id: Orphanet:98095 name: Autosomal recessive congenital cerebellar ataxia is_a: Orphanet:1172 ! Autosomal recessive cerebellar ataxia [Term] id: Orphanet:98096 name: Autosomal recessive metabolic cerebellar ataxia is_a: Orphanet:1172 ! Autosomal recessive cerebellar ataxia [Term] id: Orphanet:98097 name: Autosomal recessive cerebellar ataxia due to a DNA repair defect xref: ICD10:G11.3 is_a: Orphanet:1172 ! Autosomal recessive cerebellar ataxia [Term] id: Orphanet:98098 name: Autosomal recessive degenerative and progressive cerebellar ataxia is_a: Orphanet:1172 ! Autosomal recessive cerebellar ataxia [Term] id: Orphanet:98099 name: Autosomal recessive syndromic cerebellar ataxia is_a: Orphanet:1172 ! Autosomal recessive cerebellar ataxia [Term] id: Orphanet:981 name: Internal carotid agenesis xref: ICD10:Q28.1 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:68419 ! Vascular anomaly or angioma relationship: part_of Orphanet:71281 ! Rare central nervous system and retinal vascular disease [Term] id: Orphanet:98127 name: Autosomal anomaly is_a: Orphanet:68335 ! Chromosomal anomaly [Term] id: Orphanet:98130 name: Autosomal trisomy is_a: Orphanet:98127 ! Autosomal anomaly property_value: alternative:term "Autosomal duplication" xsd:string [Term] id: Orphanet:98131 name: Total autosomal trisomy is_a: Orphanet:98130 ! Autosomal trisomy [Term] id: Orphanet:98132 name: Partial autosomal trisomy/tetrasomy is_a: Orphanet:98130 ! Autosomal trisomy [Term] id: Orphanet:98141 name: Total autosomal monosomy xref: ICD10:Q93.0 xref: ICD10:Q93.1 is_a: Orphanet:102020 ! Autosomal monosomy [Term] id: Orphanet:98142 name: Partial autosomal monosomy xref: ICD10:Q93.3 xref: ICD10:Q93.4 xref: ICD10:Q93.5 is_a: Orphanet:102020 ! Autosomal monosomy property_value: alternative:term "Partial autosomal deletion" xsd:string [Term] id: Orphanet:98152 name: Autosomal uniparental disomy xref: ICD10:Q99.8 is_a: Orphanet:98127 ! Autosomal anomaly [Term] id: Orphanet:98153 name: Uniparental disomy of maternal origin xref: ICD10:Q99.8 is_a: Orphanet:98152 ! Autosomal uniparental disomy [Term] id: Orphanet:98154 name: Uniparental disomy of paternal origin xref: ICD10:Q99.8 is_a: Orphanet:98152 ! Autosomal uniparental disomy [Term] id: Orphanet:98155 name: Gonosomes anomaly is_a: Orphanet:68335 ! Chromosomal anomaly property_value: alternative:term "Sex-chromosomes anomaly" xsd:string [Term] id: Orphanet:98156 name: Gonosomes number anomaly is_a: Orphanet:98155 ! Gonosomes anomaly property_value: alternative:term "Sex-chromosomes number anomaly" xsd:string [Term] id: Orphanet:98157 name: Gonosomes structural anomaly is_a: Orphanet:98155 ! Gonosomes anomaly property_value: alternative:term "Sex-chromosomes structural anomaly" xsd:string [Term] id: Orphanet:98158 name: Chromosome Y structural anomaly xref: ICD10:Q98.6 is_a: Orphanet:98157 ! Gonosomes structural anomaly [Term] id: Orphanet:98159 name: Chromosome X structural anomaly xref: ICD10:Q99.8 is_a: Orphanet:98157 ! Gonosomes structural anomaly [Term] id: Orphanet:98196 name: Malformation syndrome with hamartosis is_a: Orphanet:183530 ! Rare genetic developmental defect during embryogenesis is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis property_value: alternative:term "Dysmorphologic diseases with phakomatosis" xsd:string [Term] id: Orphanet:982 name: Pulmonary valve agenesis xref: ICD10:Q22.2 is_a: Orphanet:2445 ! Conotruncal heart malformations is_a: Orphanet:98719 ! Pulmonary artery or pulmonary branch anomaly relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown property_value: alternative:term "Congenital absence of the pulmonary valve" xsd:string property_value: alternative:term "PVA" xsd:string [Term] id: Orphanet:98203 name: Combined dystonia xref: ICD10:G24.1 is_a: Orphanet:68363 ! Rare dystonia property_value: alternative:term "Dystonia-plus syndrome" xsd:string [Term] id: Orphanet:98249 name: Ehlers-Danlos syndrome xref: ICD10:Q79.6 xref: MEDDRA:10014316 xref: MESH:D004535 xref: SNOMED CT:398114001 xref: UMLS:C0013720 is_a: Orphanet:139027 ! Malformation syndrome with skin/mucosae involvement is_a: Orphanet:139030 ! Malformation syndrome with connective tissue involvement is_a: Orphanet:182222 ! Rare systemic disease is_a: Orphanet:228215 ! Genetic dermis elastic tissue disorder is_a: Orphanet:271870 ! Rare genetic systemic or rheumatologic disease [Term] id: Orphanet:98252 name: Infectious encephalitis xref: MEDDRA:10058805 xref: SNOMED CT:312215006 xref: UMLS:C0596773 is_a: Orphanet:163585 ! Rare viral disease is_a: Orphanet:97275 ! Encephalitis is_a: Orphanet:98010 ! Infectious disease of the nervous system [Term] id: Orphanet:98253 name: Postinfectious encephalitis xref: MEDDRA:10057235 xref: SNOMED CT:192727001 xref: UMLS:C0393459 is_a: Orphanet:97275 ! Encephalitis is_a: Orphanet:98010 ! Infectious disease of the nervous system [Term] id: Orphanet:98255 name: Chronic encephalitis is_a: Orphanet:97275 ! Encephalitis is_a: Orphanet:98010 ! Infectious disease of the nervous system [Term] id: Orphanet:98257 name: Neonatal epilepsy syndrome xref: ICD10:G40.4 is_a: Orphanet:166463 ! Epileptic syndrome [Term] id: Orphanet:98258 name: Infantile epilepsy syndrome xref: ICD10:G40.4 is_a: Orphanet:166463 ! Epileptic syndrome [Term] id: Orphanet:98259 name: Childhood-onset epilepsy syndrome xref: ICD10:G40.4 is_a: Orphanet:166463 ! Epileptic syndrome [Term] id: Orphanet:98260 name: Adolescent-onset epilepsy syndrome xref: ICD10:G40.4 is_a: Orphanet:166463 ! Epileptic syndrome [Term] id: Orphanet:98261 name: Progressive myoclonic epilepsy xref: MESH:D020191 xref: SNOMED CT:267581004 xref: UMLS:C0751778 is_a: Orphanet:98259 ! Childhood-onset epilepsy syndrome is_a: Orphanet:98260 ! Adolescent-onset epilepsy syndrome property_value: alternative:term "PME" xsd:string [Term] id: Orphanet:98267 name: Nonsyndromic obesity is_a: Orphanet:77828 ! Genetic obesity property_value: alternative:term "Monogenic obesity due to a leptin-melanocortin pathway anomaly" xsd:string [Term] id: Orphanet:98274 name: Myeloproliferative neoplasm xref: MEDDRA:10028576 xref: MESH:D009196 xref: SNOMED CT:115248004 xref: SNOMED CT:128842008 xref: SNOMED CT:128925001 xref: SNOMED CT:414794006 xref: SNOMED CT:425333006 xref: UMLS:C0027022 xref: UMLS:C1292778 is_a: Orphanet:171895 ! Myeloid hemopathy property_value: alternative:term "MPD" xsd:string property_value: alternative:term "MPN" xsd:string property_value: alternative:term "Myeloproliferative disorder" xsd:string [Term] id: Orphanet:98275 name: Myelodysplastic/myeloproliferative disease xref: MESH:D054437 xref: SNOMED CT:397336008 xref: UMLS:C1301355 is_a: Orphanet:171895 ! Myeloid hemopathy [Term] id: Orphanet:98277 name: Acute myeloid leukemia with recurrent genetic anomaly is_a: Orphanet:519 ! Acute myeloid leukemia [Term] id: Orphanet:98282 name: Plasma cell tumor xref: ICD10:C90 is_a: Orphanet:171898 ! Lymphoid hemopathy [Term] id: Orphanet:98287 name: Histiocytic and dendritic cell tumor is_a: Orphanet:171898 ! Lymphoid hemopathy [Term] id: Orphanet:98288 name: Macrophage or histiocytic tumor is_a: Orphanet:98287 ! Histiocytic and dendritic cell tumor [Term] id: Orphanet:98289 name: Dendritic cell tumor xref: ICD10:C96.4 is_a: Orphanet:98287 ! Histiocytic and dendritic cell tumor [Term] id: Orphanet:98290 name: Immunodeficiency-associated lymphoproliferative disease xref: ICD10:D47.9 is_a: Orphanet:171898 ! Lymphoid hemopathy [Term] id: Orphanet:98291 name: Lymphoproliferative disease associated with primary immune disease xref: ICD10:D47.9 is_a: Orphanet:98290 ! Immunodeficiency-associated lymphoproliferative disease [Term] id: Orphanet:98292 name: Mastocytosis xref: ICD10:C96.2 xref: ICD10:D47.0 xref: ICD10:Q82.2 xref: MEDDRA:10026891 xref: MESH:D008415 xref: OMIM:154800 xref: SNOMED CT:127581004 xref: SNOMED CT:397007003 xref: SNOMED CT:414653009 xref: UMLS:C0024899 xref: UMLS:C0334664 is_a: Orphanet:68347 ! Tumor of hematopoietic and lymphoid tissues [Term] id: Orphanet:98293 name: Hodgkin lymphoma xref: ICD10:C81 xref: SNOMED CT:14537002 is_a: Orphanet:223735 ! Lymphoma is_a: Orphanet:289644 ! Epstein-Barr virus-associated malignant lymphoproliferative disorder property_value: alternative:term "Hodgkin's disease" xsd:string property_value: alternative:term "Hodgkin's lymphoma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases." xsd:string [Term] id: Orphanet:983 name: Testicular regression syndrome xref: ICD10:Q55.0 xref: OMIM:273250 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:325118 ! 46,XY disorder of gonadal development property_value: alternative:term "Embryonic testicular regression syndrome" xsd:string property_value: alternative:term "ETRS" xsd:string property_value: alternative:term "TRS" xsd:string property_value: alternative:term "Vanishing testes syndrome" xsd:string property_value: alternative:term "Vanishing testis syndrome" xsd:string property_value: alternative:term "XY gonadal agenesis" xsd:string [Term] id: Orphanet:98300 name: Idiopathic interstitial pneumonia xref: MESH:D054988 xref: SNOMED CT:45157009 xref: UMLS:C2350236 is_a: Orphanet:264740 ! Primary interstitial lung disease specific to adulthood [Term] id: Orphanet:98305 name: Genetic lipodystrophy xref: ICD10:E88.1 is_a: Orphanet:156638 ! Rare genetic endocrine disease is_a: Orphanet:90970 ! Primary lipodystrophy [Term] id: Orphanet:98306 name: Familial partial lipodystrophy xref: ICD10:E88.1 xref: MESH:D052496 xref: SNOMED CT:49292002 xref: UMLS:C0271694 is_a: Orphanet:98305 ! Genetic lipodystrophy [Term] id: Orphanet:98307 name: Acquired lipodystrophy xref: ICD10:E88.1 xref: MEDDRA:10049287 xref: UMLS:C0877192 is_a: Orphanet:90970 ! Primary lipodystrophy [Term] id: Orphanet:98345 name: Rare idiopathic male infertility xref: ICD10:N46 is_a: Orphanet:98048 ! Rare male infertility [Term] id: Orphanet:98349 name: Autosomal dominant isolated diffuse palmoplantar keratoderma xref: ICD10:Q82.8 is_a: Orphanet:307148 ! Isolated diffuse palmoplantar keratoderma property_value: alternative:term "Autosomal dominant isolated diffuse palmoplantar hyperkeratosis" xsd:string [Term] id: Orphanet:98352 name: Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature xref: ICD10:Q82.8 is_a: Orphanet:307711 ! Disease with diffuse palmoplantar keratoderma as a major feature property_value: alternative:term "Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature" xsd:string [Term] id: Orphanet:98353 name: Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature xref: ICD10:Q82.8 is_a: Orphanet:307871 ! Disease with focal palmoplantar keratoderma as a major feature property_value: alternative:term "Autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature" xsd:string [Term] id: Orphanet:98356 name: Autosomal recessive isolated diffuse palmoplantar keratoderma xref: ICD10:Q82.8 is_a: Orphanet:307148 ! Isolated diffuse palmoplantar keratoderma property_value: alternative:term "Autosomal recessive isolated diffuse palmoplantar hyperkeratosis" xsd:string [Term] id: Orphanet:98357 name: Autosomal recessive disease with focal palmoplantar keratoderma as a major feature xref: ICD10:Q82.8 is_a: Orphanet:307871 ! Disease with focal palmoplantar keratoderma as a major feature property_value: alternative:term "Autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature" xsd:string [Term] id: Orphanet:98360 name: Constitutional anemia due to iron metabolism disorder xref: ICD10:D50.8 is_a: Orphanet:248296 ! Constitutional deficiency anemia [Term] id: Orphanet:98362 name: Constitutional sideroblastic anemia xref: ICD10:D64.0 is_a: Orphanet:1047 ! Sideroblastic anemia is_a: Orphanet:183651 ! Rare constitutional anemia [Term] id: Orphanet:98363 name: Rare hemolytic anemia is_a: Orphanet:108997 ! Rare anemia [Term] id: Orphanet:98364 name: Rare constitutional hemolytic anemia due to a red cell membrane anomaly is_a: Orphanet:182043 ! Rare constitutional hemolytic anemia [Term] id: Orphanet:98365 name: Stomatocytosis xref: ICD10:D58.8 xref: SNOMED CT:3272007 is_a: Orphanet:98364 ! Rare constitutional hemolytic anemia due to a red cell membrane anomaly property_value: alternative:term "Stomatocytic disease" xsd:string [Term] id: Orphanet:98366 name: Constitutional hemolytic anemia due to acanthocytosis xref: ICD10:E78.6 is_a: Orphanet:98364 ! Rare constitutional hemolytic anemia due to a red cell membrane anomaly property_value: alternative:term "Constitutional hemolytic anemia due to acanthocytic disorder" xsd:string [Term] id: Orphanet:98369 name: Rare constitutional hemolytic anemia due to an enzyme disorder xref: ICD10:D55 is_a: Orphanet:182043 ! Rare constitutional hemolytic anemia [Term] id: Orphanet:98370 name: Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies xref: ICD10:D55.1 is_a: Orphanet:98369 ! Rare constitutional hemolytic anemia due to an enzyme disorder [Term] id: Orphanet:98372 name: Hemolytic anemia due to a disorder of glycolytic enzymes xref: ICD10:D55.2 is_a: Orphanet:98369 ! Rare constitutional hemolytic anemia due to an enzyme disorder [Term] id: Orphanet:98374 name: Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder xref: ICD10:D55.3 is_a: Orphanet:98369 ! Rare constitutional hemolytic anemia due to an enzyme disorder property_value: alternative:term "Hemolytic anemia due to an erythroenzymopathy" xsd:string [Term] id: Orphanet:98375 name: Autoimmune hemolytic anemia xref: ICD10:D59.0 xref: ICD10:D59.1 xref: MEDDRA:10002046 xref: MESH:D000744 xref: SNOMED CT:413603009 xref: UMLS:C0002880 is_a: Orphanet:182047 ! Rare acquired hemolytic anemia property_value: alternative:term "AHA" xsd:string property_value: alternative:term "AIHA" xsd:string [Term] id: Orphanet:98396 name: Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder xref: ICD10:D51 is_a: Orphanet:248296 ! Constitutional deficiency anemia [Term] id: Orphanet:984 name: Pulmonary agenesis xref: ICD10:Q33.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:108993 ! Nonsyndromic respiratory or mediastinal malformation relationship: part_of Orphanet:182111 ! Respiratory malformation [Term] id: Orphanet:98408 name: Constitutional megaloblastic anemia due to folate metabolism disorder xref: ICD10:D52.8 is_a: Orphanet:248296 ! Constitutional deficiency anemia [Term] id: Orphanet:98415 name: Vitamin B12- and folate-independent constitutional megaloblastic anemia xref: ICD10:D53 is_a: Orphanet:248296 ! Constitutional deficiency anemia [Term] id: Orphanet:98421 name: Red cell aplasia xref: ICD10:D60 xref: MEDDRA:10038184 xref: UMLS:C0281963 is_a: Orphanet:164823 ! Rare acquired medullar aplasia [Term] id: Orphanet:98427 name: Polycythemia xref: MEDDRA:10036051 xref: MESH:D011086 xref: SNOMED CT:127062003 xref: UMLS:C0032461 is_a: Orphanet:97992 ! Rare hematologic disease [Term] id: Orphanet:98428 name: Secondary polycythemia xref: ICD10:D75.1 is_a: Orphanet:250165 ! Genetic polycythemia is_a: Orphanet:98427 ! Polycythemia property_value: alternative:term "Secondary erythrocytosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia; see these terms)." xsd:string [Term] id: Orphanet:98429 name: Rare coagulation disorder is_a: Orphanet:97992 ! Rare hematologic disease [Term] id: Orphanet:98434 name: Hereditary combined deficiency of vitamin K-dependent clotting factors xref: ICD10:D68.2 xref: OMIM:277450 xref: OMIM:607473 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:169826 ! Congenital vitamin K-dependent coagulation factors deficiency relationship: part_of Orphanet:309833 ! Disorder of other vitamins and cofactors metabolism and transport property_value: alternative:term "Hereditary combined deficiency of factors II, VII, IX and X" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." xsd:string [Term] id: Orphanet:98454 name: Platelet storage pool disease xref: OMIM:185050 is_a: Orphanet:275729 ! Rare hemorrhagic disorder due to a constitutional thrombocytopenia property_value: alternative:term "SPD" xsd:string [Term] id: Orphanet:98455 name: Alpha granule disease xref: ICD10:D69.1 is_a: Orphanet:98454 ! Platelet storage pool disease [Term] id: Orphanet:98456 name: Dense granule disease xref: ICD10:D69.1 is_a: Orphanet:98454 ! Platelet storage pool disease property_value: alternative:term "Delta granule disease" xsd:string [Term] id: Orphanet:98464 name: X-linked syndromic intellectual deficit is_a: Orphanet:102369 ! Rare intellectual deficit with developmental anomaly is_a: Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:98472 name: Skeletal muscle disease xref: MEDDRA:10028641 xref: MESH:D009135 xref: SNOMED CT:75047002 xref: UMLS:C1533847 is_a: Orphanet:68381 ! Neuromuscular disease [Term] id: Orphanet:98473 name: Muscular dystrophy xref: ICD10:G71.0 xref: MEDDRA:10028356 xref: MESH:D009136 xref: SNOMED CT:73297009 xref: UMLS:C0026850 is_a: Orphanet:206634 ! Genetic skeletal muscle disease [Term] id: Orphanet:98482 name: Idiopathic inflammatory myopathy xref: UMLS:C0751356 is_a: Orphanet:206638 ! Acquired skeletal muscle disease property_value: alternative:term "IMM" xsd:string [Term] id: Orphanet:98486 name: Metabolic myopathy xref: MEDDRA:10068836 xref: SNOMED CT:26111005 xref: UMLS:C0270984 is_a: Orphanet:206656 ! Non-dystrophic myopathy [Term] id: Orphanet:98491 name: Neuromuscular junction disease xref: ICD10:G70 xref: MESH:D020511 xref: SNOMED CT:128213006 xref: UMLS:C0751950 is_a: Orphanet:68381 ! Neuromuscular disease [Term] id: Orphanet:98494 name: Acquired neuromuscular junction disease is_a: Orphanet:98491 ! Neuromuscular junction disease [Term] id: Orphanet:98495 name: Genetic disease of neuromuscular junction xref: ICD10:G70.2 is_a: Orphanet:183497 ! Genetic neuromuscular disease is_a: Orphanet:98491 ! Neuromuscular junction disease [Term] id: Orphanet:98496 name: Rare peripheral neuropathy is_a: Orphanet:98006 ! Rare neurologic disease [Term] id: Orphanet:98497 name: Genetic peripheral neuropathy is_a: Orphanet:71859 ! Rare genetic neurological disease is_a: Orphanet:98496 ! Rare peripheral neuropathy [Term] id: Orphanet:98503 name: Motor neuron disease xref: ICD10:G12.2 is_a: Orphanet:68381 ! Neuromuscular disease property_value: alternative:term "Anterior horn cell disease" xsd:string [Term] id: Orphanet:98505 name: Genetic motor neuron disease is_a: Orphanet:183497 ! Genetic neuromuscular disease is_a: Orphanet:98503 ! Motor neuron disease property_value: alternative:term "Genetic anterior horn cell disease" xsd:string [Term] id: Orphanet:98506 name: Acquired motor neuron disease is_a: Orphanet:98503 ! Motor neuron disease property_value: alternative:term "Acquired anterior horn cell disease" xsd:string [Term] id: Orphanet:98514 name: Malformation of the cerebellar vermis is_a: Orphanet:182061 ! Cerebellar malformation [Term] id: Orphanet:98516 name: Malformation of the cerebellar hemispheres xref: ICD10:Q04.3 is_a: Orphanet:182061 ! Cerebellar malformation [Term] id: Orphanet:98518 name: Cranial nerve and nuclear aplasia is_a: Orphanet:108989 ! Nonsyndromic central nervous system malformation is_a: Orphanet:269550 ! Genetic nonsyndromic central nervous system malformation [Term] id: Orphanet:98519 name: Posterior fossa malformation is_a: Orphanet:108989 ! Nonsyndromic central nervous system malformation [Term] id: Orphanet:98520 name: Cystic malformation of the posterior fossa is_a: Orphanet:269194 ! Central nervous system cystic malformation is_a: Orphanet:98519 ! Posterior fossa malformation [Term] id: Orphanet:98523 name: Nonsyndromic pontocerebellar hypoplasia xref: ICD10:Q04.3 is_a: Orphanet:269557 ! Genetic posterior fossa malformation is_a: Orphanet:98519 ! Posterior fossa malformation property_value: alternative:term "PCH" xsd:string property_value: alternative:term "Pontoneocerebellar atrophy" xsd:string property_value: alternative:term "Pontoneocerebllar hypoplasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Nonsyndromic pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described (see these terms), generally inherited in an autosomal recessive pattern." xsd:string [Term] id: Orphanet:98534 name: Neurodegenerative disease with dementia is_a: Orphanet:182070 ! Rare neurodegenerative disease is_a: Orphanet:89043 ! Rare dementia [Term] id: Orphanet:98535 name: Frontotemporal degeneration with dementia xref: ICD10:G31.0 is_a: Orphanet:98534 ! Neurodegenerative disease with dementia [Term] id: Orphanet:98538 name: Ataxia with dementia is_a: Orphanet:276058 ! Genetic neurodegenerative disease with dementia is_a: Orphanet:98534 ! Neurodegenerative disease with dementia [Term] id: Orphanet:98539 name: Early-onset ataxia with dementia is_a: Orphanet:98538 ! Ataxia with dementia [Term] id: Orphanet:98540 name: Late-onset ataxia with dementia is_a: Orphanet:98538 ! Ataxia with dementia [Term] id: Orphanet:98542 name: Infectious disease with dementia is_a: Orphanet:89043 ! Rare dementia [Term] id: Orphanet:98543 name: Metabolic disease with dementia is_a: Orphanet:158124 ! Genetic dementia is_a: Orphanet:89043 ! Rare dementia [Term] id: Orphanet:98544 name: Cerebral lipidosis with dementia is_a: Orphanet:98543 ! Metabolic disease with dementia [Term] id: Orphanet:98549 name: Cerebrovascular dementia xref: ICD10:F01 is_a: Orphanet:89043 ! Rare dementia [Term] id: Orphanet:98553 name: Developmental defect of the eye is_a: Orphanet:101435 ! Rare genetic eye disease is_a: Orphanet:93890 ! Rare developmental defect during embryogenesis [Term] id: Orphanet:98554 name: Major induction processes eye anomaly is_a: Orphanet:183557 ! Genetic developmental defect of the eye is_a: Orphanet:98553 ! Developmental defect of the eye [Term] id: Orphanet:98555 name: Anophthalmia - microphthalmia xref: ICD10:Q11.0 xref: ICD10:Q11.1 xref: ICD10:Q11.2 is_a: Orphanet:98554 ! Major induction processes eye anomaly [Term] id: Orphanet:98557 name: Syndromic aniridia is_a: Orphanet:77 ! Aniridia [Term] id: Orphanet:98558 name: Rare eye disease due to a differentiation anomaly is_a: Orphanet:183557 ! Genetic developmental defect of the eye is_a: Orphanet:98553 ! Developmental defect of the eye [Term] id: Orphanet:98559 name: Rare palpebral, lacrimal system and conjunctival diseases is_a: Orphanet:101435 ! Rare genetic eye disease [Term] id: Orphanet:98560 name: Rare palpebral disease is_a: Orphanet:183598 ! Rare genetic palpebral, lacrimal system and conjunctival disease is_a: Orphanet:98559 ! Rare palpebral, lacrimal system and conjunctival diseases [Term] id: Orphanet:98561 name: Eyelid malformation is_a: Orphanet:98560 ! Rare palpebral disease [Term] id: Orphanet:98562 name: Cryptophthalmia is_a: Orphanet:98561 ! Eyelid malformation [Term] id: Orphanet:98563 name: Microblepharon - ablephara xref: ICD10:Q10.3 is_a: Orphanet:98561 ! Eyelid malformation [Term] id: Orphanet:98564 name: Eyelid border anomaly is_a: Orphanet:98561 ! Eyelid malformation [Term] id: Orphanet:98565 name: Syndromic ankyloblepharon is_a: Orphanet:98564 ! Eyelid border anomaly [Term] id: Orphanet:98566 name: Syndromic palpebral coloboma is_a: Orphanet:98564 ! Eyelid border anomaly [Term] id: Orphanet:98567 name: Eyelids malposition disorder is_a: Orphanet:98560 ! Rare palpebral disease [Term] id: Orphanet:98568 name: Congenital entropion xref: ICD10:Q10.2 xref: MEDDRA:10014923 xref: SNOMED CT:20392000 xref: UMLS:C0266579 is_a: Orphanet:98567 ! Eyelids malposition disorder [Term] id: Orphanet:98569 name: Secondary entropion xref: ICD10:H02.0 is_a: Orphanet:98568 ! Congenital entropion [Term] id: Orphanet:98570 name: Congenital ectropion xref: ICD10:Q10.1 xref: SNOMED CT:26590002 xref: UMLS:C0266578 is_a: Orphanet:98567 ! Eyelids malposition disorder [Term] id: Orphanet:98571 name: Secondary ectropion xref: ICD10:H02.1 is_a: Orphanet:98567 ! Eyelids malposition disorder [Term] id: Orphanet:98572 name: Canthal anomaly is_a: Orphanet:98560 ! Rare palpebral disease [Term] id: Orphanet:98573 name: Epicanthal fold xref: ICD10:Q10.3 is_a: Orphanet:98572 ! Canthal anomaly [Term] id: Orphanet:98574 name: Syndromic epicanthus is_a: Orphanet:98573 ! Epicanthal fold [Term] id: Orphanet:98575 name: Telecanthus xref: ICD10:Q10.3 xref: SNOMED CT:246803005 xref: UMLS:C0423113 is_a: Orphanet:98572 ! Canthal anomaly [Term] id: Orphanet:98576 name: Malposition of external canthus xref: ICD10:Q10.3 is_a: Orphanet:98572 ! Canthal anomaly [Term] id: Orphanet:98577 name: Kinetic eyelid anomaly is_a: Orphanet:98560 ! Rare palpebral disease [Term] id: Orphanet:98578 name: Ptosis xref: MEDDRA:10015995 xref: MEDDRA:10037272 xref: MESH:D001763 xref: SNOMED CT:11934000 xref: UMLS:C0005745 xref: UMLS:C0033377 is_a: Orphanet:98577 ! Kinetic eyelid anomaly [Term] id: Orphanet:98579 name: Congenital upper palpebral retraction xref: ICD10:H02.5 is_a: Orphanet:98577 ! Kinetic eyelid anomaly [Term] id: Orphanet:98580 name: Palpebral tumor is_a: Orphanet:98560 ! Rare palpebral disease [Term] id: Orphanet:98581 name: Palpebral epidermal tumor is_a: Orphanet:98580 ! Palpebral tumor [Term] id: Orphanet:98582 name: Benign tumor of palpebral epidermis is_a: Orphanet:98581 ! Palpebral epidermal tumor [Term] id: Orphanet:98583 name: Precancerous lesion of palpebral epidermis is_a: Orphanet:98581 ! Palpebral epidermal tumor [Term] id: Orphanet:98584 name: Malignant tumor of palpebral epidermis is_a: Orphanet:98581 ! Palpebral epidermal tumor [Term] id: Orphanet:98585 name: Palpebral sebaceus gland tumor is_a: Orphanet:98580 ! Palpebral tumor [Term] id: Orphanet:98586 name: Pigmented palpebral tumor is_a: Orphanet:98580 ! Palpebral tumor [Term] id: Orphanet:98587 name: Palpebral lentiginosis is_a: Orphanet:98586 ! Pigmented palpebral tumor [Term] id: Orphanet:98588 name: Palpebral nevus xref: SNOMED CT:231827008 xref: UMLS:C0239460 is_a: Orphanet:98586 ! Pigmented palpebral tumor [Term] id: Orphanet:98589 name: Palpebral malignant melanoma xref: MEDDRA:10063706 xref: SNOMED CT:231834005 xref: UMLS:C0339116 is_a: Orphanet:98586 ! Pigmented palpebral tumor [Term] id: Orphanet:98590 name: Palpebral piliary tumor is_a: Orphanet:98580 ! Palpebral tumor [Term] id: Orphanet:98591 name: Mesenchymatous palpebral tumor is_a: Orphanet:98580 ! Palpebral tumor [Term] id: Orphanet:98592 name: Palpebral tumor with a vascular malformation is_a: Orphanet:98580 ! Palpebral tumor [Term] id: Orphanet:98593 name: Neurogenic palpebral tumor is_a: Orphanet:98580 ! Palpebral tumor [Term] id: Orphanet:98594 name: Rare eyebrow/eyelashes anomaly is_a: Orphanet:98560 ! Rare palpebral disease [Term] id: Orphanet:98595 name: Eyebrow/eyelashes hypertrichosis xref: ICD10:L68.2 is_a: Orphanet:98594 ! Rare eyebrow/eyelashes anomaly [Term] id: Orphanet:98596 name: Eyebrow hypertrophy is_a: Orphanet:98594 ! Rare eyebrow/eyelashes anomaly [Term] id: Orphanet:98597 name: Eyelashes hypertrophy is_a: Orphanet:98594 ! Rare eyebrow/eyelashes anomaly property_value: alternative:term "Eyelashes polytrichia" xsd:string property_value: alternative:term "Eyelashes trichomegalia" xsd:string [Term] id: Orphanet:98598 name: Congenital absence of the eyebrow/eyelashes is_a: Orphanet:98594 ! Rare eyebrow/eyelashes anomaly [Term] id: Orphanet:98599 name: Eyebrow/eyelashes structural anomaly is_a: Orphanet:98594 ! Rare eyebrow/eyelashes anomaly [Term] id: Orphanet:98600 name: Eyebrow/eyelashes distichiasis is_a: Orphanet:98594 ! Rare eyebrow/eyelashes anomaly [Term] id: Orphanet:98601 name: Eyebrow/eyelashes pigmentation anomaly is_a: Orphanet:98594 ! Rare eyebrow/eyelashes anomaly [Term] id: Orphanet:98602 name: Rare lacrimal system disease is_a: Orphanet:183598 ! Rare genetic palpebral, lacrimal system and conjunctival disease is_a: Orphanet:98559 ! Rare palpebral, lacrimal system and conjunctival diseases [Term] id: Orphanet:98603 name: Secretory apparatus of the lacrimal system anomaly is_a: Orphanet:98602 ! Rare lacrimal system disease [Term] id: Orphanet:98604 name: Congenital alacrima is_a: Orphanet:98603 ! Secretory apparatus of the lacrimal system anomaly [Term] id: Orphanet:98605 name: Excretory apparatus of the lacrimal system anomaly is_a: Orphanet:98602 ! Rare lacrimal system disease [Term] id: Orphanet:98606 name: Syndromic orbital border hypoplasia xref: OMIM:165600 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98605 ! Excretory apparatus of the lacrimal system anomaly property_value: alternative:term "Urrets-Zavalia syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct." xsd:string [Term] id: Orphanet:98608 name: Anomaly of the secretory and excretory apparatus of the lacrimal system is_a: Orphanet:98602 ! Rare lacrimal system disease [Term] id: Orphanet:98609 name: EEC syndrome and related syndrome is_a: Orphanet:79373 ! Ectodermal dysplasia syndrome is_a: Orphanet:98608 ! Anomaly of the secretory and excretory apparatus of the lacrimal system [Term] id: Orphanet:98610 name: Rare conjunctival disease is_a: Orphanet:183598 ! Rare genetic palpebral, lacrimal system and conjunctival disease is_a: Orphanet:98559 ! Rare palpebral, lacrimal system and conjunctival diseases [Term] id: Orphanet:98611 name: Conjunctival vascular anomaly is_a: Orphanet:98610 ! Rare conjunctival disease [Term] id: Orphanet:98612 name: Conjunctival hemangioma or hemolymphangioma is_a: Orphanet:98611 ! Conjunctival vascular anomaly [Term] id: Orphanet:98613 name: Conjunctival telangiectasia is_a: Orphanet:98611 ! Conjunctival vascular anomaly [Term] id: Orphanet:98614 name: Conjunctival lymphangiectasia xref: SNOMED CT:231871007 xref: UMLS:C0339186 is_a: Orphanet:98611 ! Conjunctival vascular anomaly [Term] id: Orphanet:98615 name: Pigmented conjunctival lesion is_a: Orphanet:98610 ! Rare conjunctival disease [Term] id: Orphanet:98616 name: Conjunctival tumor is_a: Orphanet:98610 ! Rare conjunctival disease [Term] id: Orphanet:98617 name: Bulbar conjunctival dermoid or conjunctival dermolipoma is_a: Orphanet:98616 ! Conjunctival tumor [Term] id: Orphanet:98618 name: Rare refraction anomaly is_a: Orphanet:101435 ! Rare genetic eye disease [Term] id: Orphanet:98619 name: Rare isolated myopia xref: OMIM:608908 xref: OMIM:614292 xref: OMIM:615431 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:183601 ! Rare genetic refraction anomaly relationship: part_of Orphanet:98618 ! Rare refraction anomaly [Term] id: Orphanet:98620 name: Syndromic myopia is_a: Orphanet:183601 ! Rare genetic refraction anomaly is_a: Orphanet:98618 ! Rare refraction anomaly [Term] id: Orphanet:98621 name: Rare hyperopia and astigmatism is_a: Orphanet:183601 ! Rare genetic refraction anomaly is_a: Orphanet:98618 ! Rare refraction anomaly [Term] id: Orphanet:98622 name: Syndromic hyperopia is_a: Orphanet:98621 ! Rare hyperopia and astigmatism [Term] id: Orphanet:98623 name: Syndromic keratoconus is_a: Orphanet:156071 ! Keratoconus [Term] id: Orphanet:98625 name: Superficial corneal dystrophy xref: ICD10:H18.5 is_a: Orphanet:34533 ! Corneal dystrophy property_value: alternative:term "Anterior corneal dystrophy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy." xsd:string [Term] id: Orphanet:98626 name: Stromal corneal dystrophy xref: ICD10:H18.5 xref: SNOMED CT:231931001 xref: UMLS:C0038457 is_a: Orphanet:34533 ! Corneal dystrophy property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy." xsd:string [Term] id: Orphanet:98627 name: Posterior corneal dystrophy xref: ICD10:H18.5 is_a: Orphanet:34533 ! Corneal dystrophy property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy." xsd:string [Term] id: Orphanet:98628 name: Syndromic corneal dystrophy is_a: Orphanet:34533 ! Corneal dystrophy [Term] id: Orphanet:98631 name: Secondary dysgenetic glaucoma is_a: Orphanet:359 ! Hereditary glaucoma [Term] id: Orphanet:98632 name: Glaucoma associated with neural crest cell migration anomaly is_a: Orphanet:98631 ! Secondary dysgenetic glaucoma [Term] id: Orphanet:98633 name: Goniodysgenesis xref: SNOMED CT:251730004 xref: UMLS:C0311237 is_a: Orphanet:98632 ! Glaucoma associated with neural crest cell migration anomaly [Term] id: Orphanet:98634 name: Iridogoniodysgenesis is_a: Orphanet:98632 ! Glaucoma associated with neural crest cell migration anomaly [Term] id: Orphanet:98635 name: Corneogoniodysgenesis is_a: Orphanet:98632 ! Glaucoma associated with neural crest cell migration anomaly [Term] id: Orphanet:98636 name: Corneoiridogoniodysgenesis is_a: Orphanet:98632 ! Glaucoma associated with neural crest cell migration anomaly [Term] id: Orphanet:98637 name: Secondary glaucoma due to a proliferation and differentiation anomaly is_a: Orphanet:98631 ! Secondary dysgenetic glaucoma [Term] id: Orphanet:98638 name: Rare disease with glaucoma as a major feature is_a: Orphanet:101435 ! Rare genetic eye disease [Term] id: Orphanet:98639 name: Lens and zonula anomaly is_a: Orphanet:101435 ! Rare genetic eye disease [Term] id: Orphanet:98640 name: Rare cataract is_a: Orphanet:183607 ! Genetic lens and zonula anomaly is_a: Orphanet:98639 ! Lens and zonula anomaly [Term] id: Orphanet:98641 name: Syndromic cataract is_a: Orphanet:98640 ! Rare cataract [Term] id: Orphanet:98642 name: Chromosomal anomaly with cataract is_a: Orphanet:98641 ! Syndromic cataract [Term] id: Orphanet:98643 name: Systemic disease with cataract is_a: Orphanet:98641 ! Syndromic cataract [Term] id: Orphanet:98644 name: Cataract associated with a metabolic disease is_a: Orphanet:98643 ! Systemic disease with cataract [Term] id: Orphanet:98645 name: Cerebral disease with cataract is_a: Orphanet:98643 ! Systemic disease with cataract [Term] id: Orphanet:98646 name: Renal disease with cataract is_a: Orphanet:98643 ! Systemic disease with cataract [Term] id: Orphanet:98647 name: Cardiac disease with cataract is_a: Orphanet:98643 ! Systemic disease with cataract [Term] id: Orphanet:98648 name: Musculoskeletal disease with cataract is_a: Orphanet:98643 ! Systemic disease with cataract [Term] id: Orphanet:98649 name: Dentocutaneous disease with cataract is_a: Orphanet:98643 ! Systemic disease with cataract [Term] id: Orphanet:98650 name: Craniofacial anomaly with cataract is_a: Orphanet:98643 ! Systemic disease with cataract [Term] id: Orphanet:98652 name: Lens size anomaly is_a: Orphanet:183607 ! Genetic lens and zonula anomaly is_a: Orphanet:98639 ! Lens and zonula anomaly [Term] id: Orphanet:98653 name: Lens position anomaly xref: ICD10:Q12.1 is_a: Orphanet:183607 ! Genetic lens and zonula anomaly is_a: Orphanet:98639 ! Lens and zonula anomaly [Term] id: Orphanet:98655 name: Lens shape anomaly is_a: Orphanet:183607 ! Genetic lens and zonula anomaly is_a: Orphanet:98639 ! Lens and zonula anomaly [Term] id: Orphanet:98657 name: Genetic vitreous-retinal disease is_a: Orphanet:101435 ! Rare genetic eye disease [Term] id: Orphanet:98658 name: Color-vision disease xref: ICD10:H53.5 is_a: Orphanet:98657 ! Genetic vitreous-retinal disease [Term] id: Orphanet:98661 name: Syndromic retinitis pigmentosa is_a: Orphanet:71862 ! Retinal dystrophy [Term] id: Orphanet:98662 name: Unclassified familial retinal dystrophy is_a: Orphanet:71862 ! Retinal dystrophy [Term] id: Orphanet:98664 name: Genetic macular dystrophy xref: ICD10:H35.5 is_a: Orphanet:71862 ! Retinal dystrophy [Term] id: Orphanet:98665 name: Colobomatous and areolar dystrophy is_a: Orphanet:98664 ! Genetic macular dystrophy [Term] id: Orphanet:98666 name: Unclassified primitive or secondary maculopathy is_a: Orphanet:98664 ! Genetic macular dystrophy [Term] id: Orphanet:98667 name: Disease predisposing to age-related macular degeneration is_a: Orphanet:98657 ! Genetic vitreous-retinal disease [Term] id: Orphanet:98668 name: Vitreoretinopathy is_a: Orphanet:98657 ! Genetic vitreous-retinal disease [Term] id: Orphanet:98669 name: Congenital vitreoretinal dysplasia xref: ICD10:Q14.1 is_a: Orphanet:98668 ! Vitreoretinopathy [Term] id: Orphanet:98670 name: Vitreoretinal degeneration xref: ICD10:H35.5 xref: SNOMED CT:247182006 xref: UMLS:C0344290 is_a: Orphanet:98668 ! Vitreoretinopathy [Term] id: Orphanet:98671 name: Optic neuropathy xref: MEDDRA:10061323 is_a: Orphanet:101435 ! Rare genetic eye disease [Term] id: Orphanet:98672 name: Autosomal dominant optic atrophy xref: ICD10:H47.2 xref: MESH:D029241 xref: SNOMED CT:2065009 xref: UMLS:C0338508 is_a: Orphanet:103 ! Genetic optic atrophy property_value: alternative:term "DOA" xsd:string [Term] id: Orphanet:98673 name: Autosomal dominant optic atrophy, classic type xref: ICD10:H47.2 xref: OMIM:165500 xref: OMIM:605293 xref: OMIM:610708 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:254822 ! Mitochondrial oxidative phosphorylation disorder with no known mechanism relationship: part_of Orphanet:98672 ! Autosomal dominant optic atrophy property_value: alternative:term "Autosomal dominant optic atrophy, Kjer type" xsd:string property_value: alternative:term "Kjer disease" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant optic atrophy, classic type (ADOA) is a form of genetic optic atrophy (GOA; see this term), presenting as a symmetric and bilateral decrease in visual acuity, visual field and color vision defects" xsd:string [Term] id: Orphanet:98675 name: Autosomal recessive optic atrophy xref: ICD10:H47.2 is_a: Orphanet:103 ! Genetic optic atrophy [Term] id: Orphanet:98676 name: Autosomal recessive isolated optic atrophy xref: ICD10:H47.2 is_a: Orphanet:98675 ! Autosomal recessive optic atrophy [Term] id: Orphanet:98677 name: Autosomal recessive syndromic optic atrophy xref: ICD10:H47.2 is_a: Orphanet:98675 ! Autosomal recessive optic atrophy [Term] id: Orphanet:98678 name: X-linked recessive optic atrophy xref: ICD10:H47.2 is_a: Orphanet:103 ! Genetic optic atrophy [Term] id: Orphanet:98681 name: Rare strabismus and restriction syndrome is_a: Orphanet:140653 ! Neuro-ophthalmological disease is_a: Orphanet:183616 ! Genetic neuro-ophthalmological disease [Term] id: Orphanet:98682 name: Essential strabismus is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98681 ! Rare strabismus and restriction syndrome [Term] id: Orphanet:98683 name: Syndrome with a symptomatic strabismus is_a: Orphanet:98681 ! Rare strabismus and restriction syndrome [Term] id: Orphanet:98684 name: Craniostenosis associated with a strabismus is_a: Orphanet:98683 ! Syndrome with a symptomatic strabismus [Term] id: Orphanet:98685 name: Oculomotor palsy is_a: Orphanet:140653 ! Neuro-ophthalmological disease is_a: Orphanet:183616 ! Genetic neuro-ophthalmological disease [Term] id: Orphanet:98686 name: Congenital trochlear nerve palsy xref: ICD10:H49.1 is_a: Orphanet:100932 ! Nuclear oculomotor paralysis [Term] id: Orphanet:98687 name: Supranuclear oculomotor palsy is_a: Orphanet:98685 ! Oculomotor palsy [Term] id: Orphanet:98688 name: Oculomotor apraxia or related oculomotor disease is_a: Orphanet:140653 ! Neuro-ophthalmological disease is_a: Orphanet:183616 ! Genetic neuro-ophthalmological disease [Term] id: Orphanet:98689 name: Myopathy with eye involvement is_a: Orphanet:140653 ! Neuro-ophthalmological disease is_a: Orphanet:183616 ! Genetic neuro-ophthalmological disease [Term] id: Orphanet:98690 name: Myasthenic syndrome with eye involvement is_a: Orphanet:98689 ! Myopathy with eye involvement [Term] id: Orphanet:98691 name: Abnormal eye movements is_a: Orphanet:140653 ! Neuro-ophthalmological disease is_a: Orphanet:183616 ! Genetic neuro-ophthalmological disease [Term] id: Orphanet:98692 name: Nervous system anomaly with eye involvement is_a: Orphanet:140653 ! Neuro-ophthalmological disease is_a: Orphanet:183616 ! Genetic neuro-ophthalmological disease [Term] id: Orphanet:98693 name: Spinocerebellar ataxia with oculomotor anomaly is_a: Orphanet:98692 ! Nervous system anomaly with eye involvement [Term] id: Orphanet:98694 name: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly is_a: Orphanet:98692 ! Nervous system anomaly with eye involvement [Term] id: Orphanet:98695 name: Mitochondrial disease with eye involvement is_a: Orphanet:98710 ! Metabolic disease associated with ocular features [Term] id: Orphanet:98696 name: Genodermatosis with ocular features is_a: Orphanet:101435 ! Rare genetic eye disease [Term] id: Orphanet:98697 name: Genetic keratinization disorder associated with ocular features is_a: Orphanet:98696 ! Genodermatosis with ocular features [Term] id: Orphanet:98698 name: Ichthyosis associated with ocular features is_a: Orphanet:98697 ! Genetic keratinization disorder associated with ocular features [Term] id: Orphanet:98699 name: Syndromic ichthyosis associated with ocular features is_a: Orphanet:98697 ! Genetic keratinization disorder associated with ocular features [Term] id: Orphanet:98700 name: Pigmentation disorder with eye involvement is_a: Orphanet:98696 ! Genodermatosis with ocular features [Term] id: Orphanet:98701 name: Phakomatosis with eye involvement is_a: Orphanet:98696 ! Genodermatosis with ocular features [Term] id: Orphanet:98702 name: Connective tissue disease with eye involvement is_a: Orphanet:101435 ! Rare genetic eye disease [Term] id: Orphanet:98703 name: Disease with potential neoplastic degeneration associated with ocular features is_a: Orphanet:98696 ! Genodermatosis with ocular features [Term] id: Orphanet:98704 name: Onycho-patellar syndrome with eye involvement is_a: Orphanet:98696 ! Genodermatosis with ocular features [Term] id: Orphanet:98706 name: Oculocutaneous or ocular albinism xref: ICD10:E70.3 is_a: Orphanet:98700 ! Pigmentation disorder with eye involvement [Term] id: Orphanet:98708 name: Pigmentation disorder with eye involvement, excluding albinism is_a: Orphanet:98700 ! Pigmentation disorder with eye involvement [Term] id: Orphanet:98709 name: Ectodermal malformation syndrome associated with ocular features is_a: Orphanet:101435 ! Rare genetic eye disease [Term] id: Orphanet:98710 name: Metabolic disease associated with ocular features is_a: Orphanet:101435 ! Rare genetic eye disease [Term] id: Orphanet:98711 name: Metabolic disease with corneal opacity is_a: Orphanet:98710 ! Metabolic disease associated with ocular features [Term] id: Orphanet:98712 name: Metabolic disease with cataract is_a: Orphanet:98710 ! Metabolic disease associated with ocular features [Term] id: Orphanet:98713 name: Metabolic disease with pigmentary retinitis is_a: Orphanet:98710 ! Metabolic disease associated with ocular features [Term] id: Orphanet:98714 name: Metabolic disease with macular cherry-red spot is_a: Orphanet:98710 ! Metabolic disease associated with ocular features [Term] id: Orphanet:98715 name: Uveitis xref: MEDDRA:10046851 xref: MESH:D014605 xref: SNOMED CT:128473001 xref: UMLS:C0042164 is_a: Orphanet:182214 ! Rare inflammatory eye disease [Term] id: Orphanet:98716 name: Heart position anomaly is_a: Orphanet:88991 ! Congenital heart malformation [Term] id: Orphanet:98717 name: Transposition of the great arteries and conotruncal cardiac anomaly is_a: Orphanet:88991 ! Congenital heart malformation [Term] id: Orphanet:98718 name: Aortic malformation is_a: Orphanet:98717 ! Transposition of the great arteries and conotruncal cardiac anomaly is_a: Orphanet:98724 ! Congenital great vessels anomaly [Term] id: Orphanet:98719 name: Pulmonary artery or pulmonary branch anomaly is_a: Orphanet:98717 ! Transposition of the great arteries and conotruncal cardiac anomaly is_a: Orphanet:98724 ! Congenital great vessels anomaly [Term] id: Orphanet:98720 name: Atrioventricular valve anomaly xref: ICD10:Q23 is_a: Orphanet:88991 ! Congenital heart malformation [Term] id: Orphanet:98721 name: Congenital tricuspid malformation xref: ICD10:Q22.4 xref: ICD10:Q22.5 xref: ICD10:Q22.8 xref: ICD10:Q22.9 is_a: Orphanet:98720 ! Atrioventricular valve anomaly [Term] id: Orphanet:98722 name: Atrioventricular canal defect xref: ICD10:Q21.2 xref: OMIM:600309 xref: OMIM:606215 xref: OMIM:606217 xref: OMIM:614430 xref: OMIM:614474 is_a: Orphanet:98720 ! Atrioventricular valve anomaly [Term] id: Orphanet:98723 name: Hypoplastic right heart syndrome xref: ICD10:Q22.6 xref: MEDDRA:10050053 xref: MEDDRA:10064962 xref: SNOMED CT:268180007 xref: SNOMED CT:39589002 xref: UMLS:C0265856 xref: UMLS:C0344963 is_a: Orphanet:95483 ! Univentricular cardiopathy [Term] id: Orphanet:98724 name: Congenital great vessels anomaly xref: ICD10:Q25 xref: MEDDRA:10061080 xref: UMLS:C0948632 is_a: Orphanet:88991 ! Congenital heart malformation property_value: alternative:term "Congenital aorta, aortic arch or pulmonary arteries anomaly" xsd:string [Term] id: Orphanet:98725 name: Ascending aorta anomaly xref: ICD10:Q25.4 is_a: Orphanet:98724 ! Congenital great vessels anomaly [Term] id: Orphanet:98727 name: Atrial defect and interauricular communication xref: ICD10:Q21.1 is_a: Orphanet:88991 ! Congenital heart malformation [Term] id: Orphanet:98729 name: Congenital pulmonary veins anomaly is_a: Orphanet:363189 ! Congenital anomaly of the great veins [Term] id: Orphanet:98730 name: Atrioventricular discordance xref: ICD10:Q24.8 is_a: Orphanet:88991 ! Congenital heart malformation [Term] id: Orphanet:98731 name: Arteriovenous fistula xref: MEDDRA:10003226 xref: MESH:D001164 xref: SNOMED CT:128617001 xref: SNOMED CT:439470001 xref: UMLS:C0003855 is_a: Orphanet:211266 ! Arteriovenous malformation [Term] id: Orphanet:98733 name: Noonan syndrome and Noonan-related syndrome is_a: Orphanet:139021 ! Malformation syndrome with short stature is_a: Orphanet:183570 ! Genetic malformation syndrome with short stature is_a: Orphanet:217595 ! Syndrome associated with hypertrophic cardiomyopathy [Term] id: Orphanet:98754 name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 xref: ICD10:Q87.1 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:739 ! Prader-Willi syndrome relationship: part_of Orphanet:98153 ! Uniparental disomy of maternal origin property_value: alternative:term "UPD(15)mat" xsd:string [Term] id: Orphanet:98755 name: Spinocerebellar ataxia type 1 xref: ICD10:G11 xref: OMIM:164400 xref: UMLS:C0752120 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:158266 ! Huntington disease-like syndrome relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "SCA1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." xsd:string [Term] id: Orphanet:98756 name: Spinocerebellar ataxia type 2 xref: ICD10:G11 xref: OMIM:183090 xref: UMLS:C0752121 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:158266 ! Huntington disease-like syndrome relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "SCA2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea." xsd:string [Term] id: Orphanet:98757 name: Spinocerebellar ataxia type 3 xref: ICD10:G11 xref: OMIM:109150 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:158266 ! Huntington disease-like syndrome relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "Autosomal dominant striatonigral degeneration" xsd:string property_value: alternative:term "Azorean disease of the nervous system" xsd:string property_value: alternative:term "Machado disease" xsd:string property_value: alternative:term "Machado-Joseph disease" xsd:string property_value: alternative:term "MJD" xsd:string property_value: alternative:term "Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia" xsd:string property_value: alternative:term "SCA3" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1; see this term), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations." xsd:string [Term] id: Orphanet:98758 name: Spinocerebellar ataxia type 6 xref: ICD10:G11 xref: OMIM:183086 xref: UMLS:C0752124 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:94148 ! Autosomal dominant cerebellar ataxia type 3 property_value: alternative:term "SCA6" xsd:string [Term] id: Orphanet:98759 name: Spinocerebellar ataxia type 17 xref: ICD10:G11 xref: OMIM:607136 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:158266 ! Huntington disease-like syndrome relationship: part_of Orphanet:306695 ! Miscellaneous movement disorder due to neurodegenerative disease relationship: part_of Orphanet:307058 ! Miscellaneous movement disorder due to genetic neurodegenerative disease relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "HDL4" xsd:string property_value: alternative:term "Huntington disease-like 4" xsd:string property_value: alternative:term "SCA17" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy." xsd:string [Term] id: Orphanet:98760 name: Spinocerebellar ataxia type 8 xref: ICD10:G11 xref: MESH:C537307 xref: OMIM:608768 xref: UMLS:C1837454 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "SCA8" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients." xsd:string [Term] id: Orphanet:98761 name: Spinocerebellar ataxia type 10 xref: ICD10:G11 xref: OMIM:603516 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "SCA10" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances." xsd:string [Term] id: Orphanet:98762 name: Spinocerebellar ataxia type 12 xref: ICD10:G11 xref: OMIM:604326 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "SCA12" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported." xsd:string [Term] id: Orphanet:98763 name: Spinocerebellar ataxia type 14 xref: ICD10:G11 xref: MESH:C537196 xref: OMIM:605361 xref: UMLS:C1854369 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "SCA14" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus." xsd:string [Term] id: Orphanet:98764 name: Spinocerebellar ataxia type 27 xref: ICD10:G11 xref: MESH:C537204 xref: OMIM:609307 xref: UMLS:C1836383 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "SCA27" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia." xsd:string [Term] id: Orphanet:98765 name: Spinocerebellar ataxia type 4 xref: ICD10:G11 xref: OMIM:600223 xref: UMLS:C0752122 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "SCA4" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy." xsd:string [Term] id: Orphanet:98766 name: Spinocerebellar ataxia type 5 xref: ICD10:G11 xref: OMIM:600224 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:94148 ! Autosomal dominant cerebellar ataxia type 3 property_value: alternative:term "SCA5" xsd:string [Term] id: Orphanet:98767 name: Spinocerebellar ataxia type 11 xref: ICD10:G11 xref: OMIM:604432 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:94148 ! Autosomal dominant cerebellar ataxia type 3 property_value: alternative:term "SCA11" xsd:string [Term] id: Orphanet:98768 name: Spinocerebellar ataxia type 13 xref: ICD10:G11 xref: MESH:C537195 xref: OMIM:605259 xref: UMLS:C1854488 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "SCA13" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia." xsd:string [Term] id: Orphanet:98769 name: Spinocerebellar ataxia type 15/16 xref: ICD10:G11 xref: OMIM:606658 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "SCA15/16" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment." xsd:string [Term] id: Orphanet:98770 name: Spinocerebellar ataxia type 16 is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_98769 with label: Spinocerebellar ataxia type 15/16" xsd:string [Term] id: Orphanet:98771 name: Spinocerebellar ataxia type 18 xref: ICD10:G11 xref: MESH:C537197 xref: OMIM:607458 xref: UMLS:C1843884 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "SCA18" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by sensory neuropathy and cerebellar ataxia." xsd:string [Term] id: Orphanet:98772 name: Spinocerebellar ataxia type 19/22 xref: ICD10:G11 xref: MESH:C537198 xref: OMIM:607346 xref: UMLS:C1846367 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "SCA19/22" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor." xsd:string [Term] id: Orphanet:98773 name: Spinocerebellar ataxia type 21 xref: ICD10:G11 xref: MESH:C537200 xref: OMIM:607454 xref: UMLS:C1843891 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:94145 ! Autosomal dominant cerebellar ataxia type 1 property_value: alternative:term "SCA21" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity." xsd:string [Term] id: Orphanet:98784 name: Autosomal dominant nocturnal frontal lobe epilepsy xref: OMIM:600513 xref: OMIM:603204 xref: OMIM:605375 xref: OMIM:610353 xref: OMIM:615005 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309 ! Familial partial epilepsy property_value: alternative:term "ADNFLE" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page." xsd:string [Term] id: Orphanet:98788 name: Pitt-Rogers-Danks syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_280 with label: Wolf-Hirschhorn syndrome" xsd:string [Term] id: Orphanet:98791 name: Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 xref: ICD10:D56.0 xref: OMIM:141750 xref: SNOMED CT:277918006 xref: UMLS:C0475813 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly relationship: part_of Orphanet:232288 ! Alpha-thalassemia-related diseases relationship: part_of Orphanet:261956 ! Partial deletion of the short arm of chromosome 16 property_value: alternative:term "Alpha thalassemia - intellectual deficit syndrome, deletion type" xsd:string property_value: alternative:term "Alpha thalassemia - retardation syndrome" xsd:string property_value: alternative:term "ATR syndrome linked to chromosome 16" xsd:string property_value: alternative:term "ATR syndrome, deletion type" xsd:string property_value: alternative:term "ATR-16 syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities." xsd:string [Term] id: Orphanet:98793 name: Prader-Willi syndrome due to paternal 15q11q13 deletion xref: ICD10:Q87.1 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:262119 ! Partial deletion of the long arm of chromosome 15 relationship: part_of Orphanet:739 ! Prader-Willi syndrome [Term] id: Orphanet:98794 name: Angelman syndrome due to maternal 15q11q13 deletion xref: ICD10:Q93.5 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:262119 ! Partial deletion of the long arm of chromosome 15 relationship: part_of Orphanet:72 ! Angelman syndrome property_value: alternative:term "Angelman syndrome due to maternal monosomy 15q11q13" xsd:string [Term] id: Orphanet:98795 name: Angelman syndrome due to paternal uniparental disomy of chromosome 15 xref: ICD10:Q93.5 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:72 ! Angelman syndrome relationship: part_of Orphanet:98154 ! Uniparental disomy of paternal origin property_value: alternative:term "UPD(15)pat" xsd:string [Term] id: Orphanet:98797 name: Isochromosomy Yp xref: ICD10:Q98.6 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:96325 ! Isochromosome Y [Term] id: Orphanet:98798 name: Isochromosomy Yq xref: ICD10:Q98.6 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:96325 ! Isochromosome Y [Term] id: Orphanet:988 name: Absent tibia - polydactyly xref: ICD10:Q87.2 xref: MESH:C535564 xref: OMIM:188740 xref: UMLS:C1861099 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects [Term] id: Orphanet:98805 name: Primary dystonia, DYT4 type xref: ICD10:G24.1 xref: OMIM:128101 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:1866 ! Focal, segmental or multifocal dystonia property_value: alternative:term "DYT4" xsd:string property_value: alternative:term "Hereditary whispering dysphonia" xsd:string [Term] id: Orphanet:98806 name: Primary dystonia, DYT6 type xref: ICD10:G24.1 xref: OMIM:602629 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:376724 ! Generalized isolated dystonia property_value: alternative:term "DYT6" xsd:string property_value: alternative:term "Generalized cervical and upper-limb-onset dystonia" xsd:string property_value: alternative:term "Idiopathic torsion dystonia of mixed type" xsd:string [Term] id: Orphanet:98807 name: Primary dystonia, DYT13 type xref: ICD10:G24.1 xref: OMIM:607671 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:1866 ! Focal, segmental or multifocal dystonia property_value: alternative:term "DYT13" xsd:string property_value: alternative:term "Primary dystonia with mixed phenotype" xsd:string property_value: alternative:term "Primary torsion dystonia with predominant craniocervical or upper limb onset" xsd:string [Term] id: Orphanet:98808 name: Autosomal dominant dopa-responsive dystonia xref: ICD10:G24.1 xref: OMIM:128230 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:255 ! Dopa-responsive dystonia relationship: part_of Orphanet:309819 ! Disorder of pterin metabolism property_value: alternative:term "Autosomal dominant Segawa syndrome" xsd:string property_value: alternative:term "DYT5a" xsd:string property_value: alternative:term "GTPCH1-deficient dopa-responsive dystonia" xsd:string property_value: alternative:term "GTPCH1-deficient DRD" xsd:string property_value: alternative:term "Hereditary progressive dystonia with marked diurnal fluctuation" xsd:string property_value: alternative:term "HPD with marked diurnal fluctuation" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa and that may be associated with parkinsonism at an older age." xsd:string [Term] id: Orphanet:98809 name: Paroxysmal kinesigenic dyskinesia xref: ICD10:G24.8 xref: OMIM:128200 xref: OMIM:611031 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:1431 ! Paroxysmal dyskinesia property_value: alternative:term "Familial paroxysmal kinesigenic dyskinesia" xsd:string property_value: alternative:term "Familial PKD" xsd:string property_value: alternative:term "Paroxysmal kinesigenic choreathetosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Paroxysmal kinesigenic dyskinesia (PKD) is a paroxysmal movement disorder characterized by recurrent brief involuntary hyperkinesias such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements." xsd:string [Term] id: Orphanet:98810 name: Paroxysmal non-kinesigenic dyskinesia xref: ICD10:G24.8 xref: MEDDRA:10065657 xref: MEDDRA:10065658 xref: MESH:C537181 xref: OMIM:118800 xref: OMIM:611147 xref: SNOMED CT:49949003 xref: UMLS:C1869117 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:1431 ! Paroxysmal dyskinesia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Paroxysmal non-kinesigenic dyskinesia (PNKD) is a paroxysmal movement disorder characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee, alcohol or menstruation." xsd:string [Term] id: Orphanet:98811 name: Paroxysmal exertion-induced dyskinesia xref: ICD10:G24.8 xref: OMIM:612126 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:1431 ! Paroxysmal dyskinesia property_value: alternative:term "Dystonia 18" xsd:string property_value: alternative:term "DYT18" xsd:string property_value: alternative:term "PED" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Paroxysmal exertion-induced dyskinesia (PED) is a paroxysmal movement disorder characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." xsd:string [Term] id: Orphanet:98812 name: Paroxysmal hypnogenic dyskinesia xref: ICD10:G24.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:1431 ! Paroxysmal dyskinesia [Term] id: Orphanet:98813 name: Hypohidrotic ectodermal dysplasia with immunodeficiency xref: ICD10:D82.8 xref: OMIM:300291 xref: OMIM:612132 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:238468 ! Hypohidrotic ectodermal dysplasia relationship: part_of Orphanet:331193 ! Other immunodeficiency syndromes due to defects in innate immunity property_value: alternative:term "Anhidrotic ectodermal dysplasia with immunodeficiency" xsd:string property_value: alternative:term "EDA-ID" xsd:string property_value: alternative:term "HED-ID" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency." xsd:string [Term] id: Orphanet:98815 name: Benign childhood occipital epilepsy, Panayiotopoulos type xref: ICD10:G40.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:25968 ! Benign occipital epilepsy property_value: alternative:term "Early-onset benign childhood occipital epilepsy" xsd:string property_value: alternative:term "Panayiotopoulos syndrome" xsd:string [Term] id: Orphanet:98816 name: Benign childhood occipital epilepsy, Gastaut type xref: ICD10:G40.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:25968 ! Benign occipital epilepsy property_value: alternative:term "Late onset benign childhood occipital epilepsy" xsd:string [Term] id: Orphanet:98818 name: Landau-Kleffner syndrome xref: MEDDRA:10052075 xref: MESH:D018887 xref: OMIM:245570 xref: SNOMED CT:230438007 xref: UMLS:C0282512 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:98259 ! Childhood-onset epilepsy syndrome [Term] id: Orphanet:98819 name: Familial temporal epilepsy xref: MESH:C536956 xref: OMIM:608096 xref: OMIM:611631 xref: UMLS:C1842564 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:309 ! Familial partial epilepsy [Term] id: Orphanet:98820 name: Familial focal epilepsy with variable foci xref: OMIM:604364 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:309 ! Familial partial epilepsy property_value: alternative:term "Familial partial epilepsy with variable foci" xsd:string property_value: alternative:term "FFEVF" xsd:string [Term] id: Orphanet:98823 name: Chronic myelomonocytic leukemia xref: ICD10:C93.1 xref: MEDDRA:10009018 xref: MESH:D015477 xref: SNOMED CT:127225006 xref: SNOMED CT:128831004 xref: UMLS:C0023480 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:98275 ! Myelodysplastic/myeloproliferative disease [Term] id: Orphanet:98824 name: Atypical chronic myeloid leukemia xref: ICD10:C92.2 xref: MESH:D054438 xref: SNOMED CT:128826001 xref: SNOMED CT:188736006 xref: SNOMED CT:277589003 xref: UMLS:C0349640 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:98275 ! Myelodysplastic/myeloproliferative disease property_value: alternative:term "Subacute myeloid leukemia" xsd:string [Term] id: Orphanet:98825 name: Unclassified myelodysplastic/myeloproliferative disease is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98275 ! Myelodysplastic/myeloproliferative disease property_value: alternative:term "Unclassified mixed myelodysplastic/myeloproliferatic syndrome" xsd:string [Term] id: Orphanet:98826 name: Refractory anemia xref: ICD10:D46.7 xref: MEDDRA:10038269 xref: MESH:D000753 xref: SNOMED CT:109996008 xref: SNOMED CT:128845005 xref: UMLS:C0002893 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:86836 ! Refractory cytopenia with multilineage dysplasia [Term] id: Orphanet:98827 name: Unclassified myelodysplastic syndrome xref: ICD10:D46.7 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:86836 ! Refractory cytopenia with multilineage dysplasia [Term] id: Orphanet:98829 name: Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) xref: ICD10:C92.7 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98277 ! Acute myeloid leukemia with recurrent genetic anomaly [Term] id: Orphanet:98831 name: Acute myeloid leukemia with 11q23 abnormalities xref: ICD10:C92.6 xref: SNOMED CT:128829008 xref: UMLS:C1292775 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:98277 ! Acute myeloid leukemia with recurrent genetic anomaly [Term] id: Orphanet:98832 name: Minimally differentiated acute myeloblastic leukemia xref: ICD10:C92.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:167714 ! Unclassified acute myeloid leukemia [Term] id: Orphanet:98833 name: Acute myeloblastic leukemia without maturation xref: ICD10:C92.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:167714 ! Unclassified acute myeloid leukemia property_value: alternative:term "Acute myeloblastic leukemia type 1" xsd:string [Term] id: Orphanet:98834 name: Acute myeloblastic leukemia with maturation xref: ICD10:C92.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:167714 ! Unclassified acute myeloid leukemia property_value: alternative:term "Acute myeloblastic leukemia type 2" xsd:string [Term] id: Orphanet:98835 name: Acute undifferentiated leukemia xref: ICD10:C95.0 xref: MEDDRA:10045516 xref: UMLS:C0856823 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:86851 ! Acute leukemia of ambiguous lineage [Term] id: Orphanet:98836 name: Bilineal acute leukemia xref: ICD10:C95.0 xref: SNOMED CT:397346005 xref: UMLS:C0349680 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:86851 ! Acute leukemia of ambiguous lineage [Term] id: Orphanet:98837 name: Acute biphenotypic leukemia xref: ICD10:C95.0 xref: MEDDRA:10067399 xref: MESH:D015456 xref: SNOMED CT:128818009 xref: SNOMED CT:278453007 xref: UMLS:C0023464 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:86851 ! Acute leukemia of ambiguous lineage [Term] id: Orphanet:98838 name: Primary mediastinal large B-cell lymphoma xref: ICD10:C83.3 xref: MEDDRA:10036710 xref: SNOMED CT:128801005 xref: SNOMED CT:444910004 xref: UMLS:C0855152 xref: UMLS:C1292754 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:544 ! Diffuse large B-cell lymphoma property_value: alternative:term "Large cell lymphoma of the mediastinum" xsd:string property_value: alternative:term "Med-DLBCL" xsd:string property_value: alternative:term "Mediastinal diffuse large-cell lymphoma with sclerosis" xsd:string property_value: alternative:term "Primary mediastinal clear cell lymphoma of B-cell type" xsd:string [Term] id: Orphanet:98839 name: Intravascular large B-cell lymphoma xref: ICD10:C83.3 xref: MEDDRA:10069643 xref: SNOMED CT:399648005 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:544 ! Diffuse large B-cell lymphoma property_value: alternative:term "Angioendotheliomatosis proliferans systemisata" xsd:string property_value: alternative:term "Angiotropic large cell lymphoma" xsd:string property_value: alternative:term "Intravascular lymphomatosis" xsd:string property_value: alternative:term "Malignant angioendotheliomatosis" xsd:string property_value: alternative:term "Tappeiner-Pfleger disease" xsd:string [Term] id: Orphanet:98841 name: Anaplastic large cell lymphoma xref: ICD10:C83.3 xref: MESH:D017728 xref: SNOMED CT:277637000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:171918 ! T-cell non-Hodgkin lymphoma property_value: alternative:term "ALCL" xsd:string [Term] id: Orphanet:98842 name: Lymphomatoid papulosis xref: ICD10:C86.6 xref: MEDDRA:10056670 xref: MESH:D017731 xref: SNOMED CT:31047003 xref: SNOMED CT:397353001 xref: UMLS:C0206182 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:541 ! Primary cutaneous CD30+ T-cell lymphoproliferative disease [Term] id: Orphanet:98843 name: Nodular sclerosis classical Hodgkin lymphoma xref: ICD10:C81.1 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:391 ! Hodgkin lymphoma, classical [Term] id: Orphanet:98844 name: Mixed cellularity classical Hodgkin lymphoma xref: ICD10:C81.2 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:391 ! Hodgkin lymphoma, classical [Term] id: Orphanet:98845 name: Lymphocyte-rich classical Hodgkin lymphoma xref: ICD10:C81.0 xref: MEDDRA:10020231 xref: MESH:D006689 xref: SNOMED CT:118607005 xref: SNOMED CT:128799007 xref: UMLS:C1266194 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:391 ! Hodgkin lymphoma, classical [Term] id: Orphanet:98846 name: Lymphocyte-depleted classical Hodgkin lymphoma xref: ICD10:C81.3 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:391 ! Hodgkin lymphoma, classical [Term] id: Orphanet:98848 name: Indolent systemic mastocytosis xref: ICD10:D47.0 xref: MEDDRA:10056452 xref: SNOMED CT:397356009 xref: SNOMED CT:70910003 xref: UMLS:C0272203 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:2467 ! Systemic mastocytosis [Term] id: Orphanet:98849 name: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease xref: ICD10:C96.2 xref: SNOMED CT:397015000 xref: SNOMED CT:397357000 xref: UMLS:C1301365 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:2467 ! Systemic mastocytosis [Term] id: Orphanet:98850 name: Aggressive systemic mastocytosis xref: ICD10:C96.2 xref: MEDDRA:10056453 xref: SNOMED CT:397008008 xref: SNOMED CT:397358005 xref: UMLS:C1112486 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:2467 ! Systemic mastocytosis [Term] id: Orphanet:98851 name: Mast cell leukemia xref: ICD10:C94.3 xref: MEDDRA:10056450 xref: MESH:D007946 xref: SNOMED CT:110002002 xref: SNOMED CT:128924002 xref: UMLS:C0023461 is_a: Orphanet:2467 ! Systemic mastocytosis relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 [Term] id: Orphanet:98852 name: Desquamative interstitial pneumonia xref: ICD10:J84.1 xref: OMIM:263000 xref: SNOMED CT:8549006 xref: UMLS:C0238378 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:98300 ! Idiopathic interstitial pneumonia [Term] id: Orphanet:98853 name: Autosomal dominant Emery-Dreifuss muscular dystrophy xref: ICD10:G71.0 xref: OMIM:181350 xref: OMIM:612998 xref: OMIM:612999 xref: OMIM:614302 xref: UMLS:C0410190 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:261 ! Emery-Dreifuss muscular dystrophy [Term] id: Orphanet:98855 name: Autosomal recessive Emery-Dreifuss muscular dystrophy xref: ICD10:G71.0 xref: MESH:D020389 xref: OMIM:181350 xref: UMLS:C1450051 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:261 ! Emery-Dreifuss muscular dystrophy property_value: alternative:term "EDMD3" xsd:string [Term] id: Orphanet:98856 name: Charcot-Marie-Tooth disease type 2B1 xref: ICD10:G60.0 xref: MESH:C537990 xref: OMIM:605588 xref: UMLS:C1854154 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:91024 ! Autosomal recessive axonal Charcot-Marie-Tooth disease type 2 property_value: alternative:term "AR-CMT2B1" xsd:string property_value: alternative:term "Autosomal recessive axonal CMT4C1" xsd:string property_value: alternative:term "Autosomal recessive Charcot-Marie-Tooth disease type 2B1" xsd:string [Term] id: Orphanet:98861 name: Primary ciliary dyskinesia, Kartagener type is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_244 with label: Primary ciliary dyskinesia" xsd:string [Term] id: Orphanet:98863 name: X-linked Emery-Dreifuss muscular dystrophy xref: ICD10:G71.0 xref: OMIM:300696 xref: OMIM:310300 xref: UMLS:C0751337 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:209188 ! Qualitative or quantitative defects of emerin relationship: part_of Orphanet:261 ! Emery-Dreifuss muscular dystrophy property_value: alternative:term "EDMD1" xsd:string [Term] id: Orphanet:98864 name: Common hereditary elliptocytosis xref: ICD10:D58.1 xref: OMIM:130600 xref: OMIM:166900 xref: OMIM:166910 xref: OMIM:179650 xref: OMIM:225450 xref: OMIM:235370 xref: OMIM:611804 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:288 ! Hereditary elliptocytosis [Term] id: Orphanet:98865 name: Homozygous hereditary elliptocytosis xref: ICD10:D58.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:288 ! Hereditary elliptocytosis [Term] id: Orphanet:98866 name: Spherocytic elliptocytosis xref: ICD10:D58.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:288 ! Hereditary elliptocytosis [Term] id: Orphanet:98867 name: Hereditary pyropoikilocytosis xref: ICD10:D58.1 xref: OMIM:141700 xref: OMIM:266140 xref: SNOMED CT:9434008 xref: UMLS:C0520739 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:288 ! Hereditary elliptocytosis [Term] id: Orphanet:98868 name: Southeast Asian ovalocytosis xref: ICD10:D58.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:288 ! Hereditary elliptocytosis [Term] id: Orphanet:98869 name: Congenital dyserythropoietic anemia type I xref: ICD10:D64.4 xref: OMIM:224120 xref: SNOMED CT:59548005 xref: UMLS:C0271933 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:85 ! Congenital dyserythropoietic anemia property_value: alternative:term "CDA I" xsd:string property_value: alternative:term "CDA type 1" xsd:string property_value: alternative:term "CDA type I" xsd:string property_value: alternative:term "Congenital dyserythropoietic anemia type 1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis." xsd:string [Term] id: Orphanet:98870 name: Congenital dyserythropoietic anemia type III xref: ICD10:D64.4 xref: OMIM:105600 xref: SNOMED CT:26409005 xref: UMLS:C0271934 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:85 ! Congenital dyserythropoietic anemia property_value: alternative:term "CDA III" xsd:string property_value: alternative:term "CDA type 3" xsd:string property_value: alternative:term "CDA type III" xsd:string property_value: alternative:term "Congenital dyserythropoietic anemia type 3" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia." xsd:string [Term] id: Orphanet:98871 name: Transient erythroblastopenia of childhood xref: ICD10:D60.1 xref: MESH:C536980 xref: OMIM:227050 xref: SNOMED CT:234375006 xref: UMLS:C0238478 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98421 ! Red cell aplasia property_value: alternative:term "Transient acquired pure red cell aplasia" xsd:string [Term] id: Orphanet:98872 name: Adult pure red cell aplasia xref: ICD10:D60.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98421 ! Red cell aplasia [Term] id: Orphanet:98873 name: Congenital dyserythropoietic anemia type II xref: ICD10:D64.4 xref: OMIM:224100 xref: SNOMED CT:68870007 xref: UMLS:C1306589 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:309526 ! Disorder of multiple glycosylation relationship: part_of Orphanet:85 ! Congenital dyserythropoietic anemia property_value: alternative:term "CDA II" xsd:string property_value: alternative:term "CDA type 2" xsd:string property_value: alternative:term "CDA type II" xsd:string property_value: alternative:term "Congenital dyserythropoietic anemia type 2" xsd:string property_value: alternative:term "Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)" xsd:string property_value: alternative:term "SEC23B-CDG" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones." xsd:string [Term] id: Orphanet:98878 name: Hemophilia A xref: ICD10:D66 xref: MEDDRA:10016080 xref: MESH:D006467 xref: OMIM:134500 xref: OMIM:306700 xref: SNOMED CT:234440005 xref: SNOMED CT:28293008 xref: UMLS:C0019069 is_a: Orphanet:448 ! Hemophilia relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "Factor VIII deficiency" xsd:string [Term] id: Orphanet:98879 name: Hemophilia B xref: ICD10:D67 xref: MEDDRA:10016077 xref: MESH:D002836 xref: OMIM:306900 xref: SNOMED CT:41788008 xref: UMLS:C0008533 is_a: Orphanet:448 ! Hemophilia relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 property_value: alternative:term "Factor IX deficiency" xsd:string [Term] id: Orphanet:98880 name: Familial afibrinogenemia xref: ICD10:D68.2 xref: OMIM:202400 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:335 ! Congenital fibrinogen deficiency [Term] id: Orphanet:98881 name: Familial dysfibrinogenemia xref: ICD10:D68.2 xref: OMIM:202400 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:335 ! Congenital fibrinogen deficiency [Term] id: Orphanet:98885 name: Bleeding diathesis due to glycoprotein VI deficiency xref: ICD10:D69.8 xref: OMIM:614201 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:73271 ! Bleeding diathesis due to a collagen receptor defect [Term] id: Orphanet:98886 name: Bleeding diathesis due to integrin alpha2-beta1 deficiency xref: ICD10:D69.8 xref: OMIM:614200 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:73271 ! Bleeding diathesis due to a collagen receptor defect [Term] id: Orphanet:98888 name: X-linked complex spastic paraplegia xref: ICD10:G11.4 is_a: Orphanet:102013 ! Complex hereditary spastic paraplegia is_a: Orphanet:98464 ! X-linked syndromic intellectual deficit property_value: alternative:term "Complex X-linked HSP" xsd:string property_value: alternative:term "Complex X-linked SPG" xsd:string property_value: alternative:term "Complicated X-linked HSP" xsd:string property_value: alternative:term "Complicated X-linked SPG" xsd:string property_value: alternative:term "X-linked complicated spastic paraplegia" xsd:string [Term] id: Orphanet:98889 name: Bilateral perisylvian polymicrogyria xref: ICD10:Q04.3 xref: OMIM:300388 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:268940 ! Bilateral polymicrogyria [Term] id: Orphanet:98890 name: Early-onset X-linked optic atrophy xref: ICD10:H47.2 xref: OMIM:311050 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: part_of Orphanet:98464 ! X-linked syndromic intellectual deficit relationship: part_of Orphanet:98678 ! X-linked recessive optic atrophy property_value: alternative:term "Non-Leber type optic atrophy with early-onset" xsd:string property_value: alternative:term "OPA2" xsd:string property_value: alternative:term "Optic atrophy type 2" xsd:string [Term] id: Orphanet:98892 name: Periventricular nodular heterotopia xref: ICD10:Q04.8 xref: MEDDRA:10066854 xref: MESH:D054091 xref: OMIM:300049 xref: OMIM:608097 xref: OMIM:608098 xref: OMIM:612881 xref: OMIM:615544 xref: UMLS:C1868720 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108935 ! x linked dominant relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2149 ! Nodular neuronal heterotopia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males." xsd:string [Term] id: Orphanet:98893 name: Congenital muscular dystrophy type 1B xref: ICD10:G71.2 xref: OMIM:604801 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:97242 ! Congenital muscular dystrophy property_value: alternative:term "CMD1B" xsd:string property_value: alternative:term "MDC1B" xsd:string [Term] id: Orphanet:98894 name: Congenital muscular dystrophy type 1D is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_370953 with label: Congenital muscular dystrophy due to dystroglycanopathy" xsd:string [Term] id: Orphanet:98895 name: Becker muscular dystrophy xref: ICD10:G71.0 xref: MEDDRA:10059117 xref: MESH:C537666 xref: OMIM:159050 xref: OMIM:300376 xref: SNOMED CT:387732009 xref: UMLS:C0917713 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:207085 ! Qualitative or quantitative defects of dystrophin relationship: part_of Orphanet:262 ! Duchenne and Becker muscular dystrophy property_value: alternative:term "Becker dystrophinopathy" xsd:string property_value: alternative:term "BMD" xsd:string [Term] id: Orphanet:98896 name: Duchenne muscular dystrophy xref: ICD10:G71.0 xref: MEDDRA:10013801 xref: MESH:D020388 xref: OMIM:310200 xref: SNOMED CT:76670001 xref: UMLS:C0013264 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:207085 ! Qualitative or quantitative defects of dystrophin relationship: part_of Orphanet:262 ! Duchenne and Becker muscular dystrophy relationship: part_of Orphanet:98689 ! Myopathy with eye involvement property_value: alternative:term "DMD" xsd:string property_value: alternative:term "Severe dystrophinopathy, Duchenne type" xsd:string [Term] id: Orphanet:98897 name: Oculopharyngodistal myopathy xref: ICD10:G71.0 xref: OMIM:164310 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:206644 ! Progressive muscular dystrophy relationship: part_of Orphanet:98578 ! Ptosis [Term] id: Orphanet:989 name: Hypoglossia - hypodactyly xref: ICD10:Q87.2 xref: OMIM:103300 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:139036 ! Branchial arch or oral-acral syndrome relationship: part_of Orphanet:183576 ! Genetic branchial arch or oral-acral syndrome relationship: part_of Orphanet:2749 ! Oro-mandibular-limb hypogenesis syndrome relationship: part_of Orphanet:294955 ! Syndrome with limb reduction defects relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit property_value: alternative:term "Aglossia - adactylia" xsd:string property_value: alternative:term "Hanhart syndrome" xsd:string property_value: alternative:term "Jussieu syndrome" xsd:string [Term] id: Orphanet:98902 name: Amish nemaline myopathy xref: ICD10:G71.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:284786 ! Qualitative or quantitative defects of troponin relationship: part_of Orphanet:607 ! Nemaline myopathy [Term] id: Orphanet:98904 name: Congenital myopathy with excess of thin filaments xref: ICD10:G71.2 xref: OMIM:161800 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:209059 ! Qualitative or quantitative defects of alpha-actin relationship: part_of Orphanet:97245 ! Congenital myopathy property_value: alternative:term "Actin myopathy" xsd:string [Term] id: Orphanet:98905 name: Congenital multicore myopathy with external ophthalmoplegia xref: ICD10:G71.2 xref: OMIM:255320 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:598 ! Multiminicore myopathy [Term] id: Orphanet:98907 name: Dorfman-Chanarin disease xref: ICD10:E75.5 xref: OMIM:275630 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:165 ! Neutral lipid storage disease relationship: part_of Orphanet:281244 ! Autosomal ichthyosis syndrome with other associated signs relationship: part_of Orphanet:98699 ! Syndromic ichthyosis associated with ocular features property_value: alternative:term "Neutral lipid storage disease with ichthyosis" xsd:string property_value: alternative:term "NLSDI" xsd:string [Term] id: Orphanet:98908 name: Neutral lipid storage myopathy xref: ICD10:E75.5 xref: OMIM:610717 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:165 ! Neutral lipid storage disease property_value: alternative:term "Neutral lipid storage disease with myopathy without ichthyosis" xsd:string property_value: alternative:term "NLSDM" xsd:string [Term] id: Orphanet:98909 name: Desminopathy xref: ICD10:G71.8 xref: OMIM:601419 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:206662 ! Inclusion myopathy relationship: part_of Orphanet:209041 ! Qualitative or quantitative defects of desmin relationship: part_of Orphanet:217610 ! Neuromuscular disease with dilated cardiomyopathy relationship: part_of Orphanet:217635 ! Familial restrictive cardiomyopathy relationship: part_of Orphanet:593 ! Myofibrillar myopathy property_value: alternative:term "Desmin-related myofibrillar myopathy" xsd:string [Term] id: Orphanet:98910 name: Alpha-crystallinopathy xref: ICD10:G71.8 xref: OMIM:608810 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:209044 ! Qualitative or quantitative defects of alphaB-cristallin relationship: part_of Orphanet:593 ! Myofibrillar myopathy property_value: alternative:term "CRYAB-related myofobrillar myopathy" xsd:string [Term] id: Orphanet:98911 name: Myotilin-related myofibrillar myopathy without spheroid body xref: ICD10:G71.8 xref: OMIM:609200 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:209224 ! Qualitative or quantitative defects of myotilin relationship: part_of Orphanet:593 ! Myofibrillar myopathy [Term] id: Orphanet:98912 name: ZASP-related myofibrillar myopathy xref: ICD10:G71.8 xref: OMIM:609452 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:209050 ! Qualitative or quantitative defects of protein ZASP relationship: part_of Orphanet:593 ! Myofibrillar myopathy property_value: alternative:term "ZASPopathy" xsd:string [Term] id: Orphanet:98913 name: Postsynaptic congenital myasthenic syndromes xref: ICD10:G70.2 xref: OMIM:254300 xref: OMIM:601462 xref: OMIM:608930 xref: OMIM:608931 xref: OMIM:614198 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:590 ! Congenital myasthenic syndromes [Term] id: Orphanet:98914 name: Presynaptic congenital myasthenic syndromes xref: ICD10:G70.2 xref: OMIM:254210 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:590 ! Congenital myasthenic syndromes [Term] id: Orphanet:98915 name: Synaptic congenital myasthenic syndromes xref: ICD10:G70.2 xref: OMIM:603034 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:590 ! Congenital myasthenic syndromes [Term] id: Orphanet:98916 name: Acute inflammatory demyelinating polyradiculoneuropathy xref: ICD10:G61.0 xref: OMIM:139393 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:2103 ! Guillain-Barré syndrome property_value: alternative:term "Acute idiopathic demyelinating polyneuropathy" xsd:string property_value: alternative:term "Acute inflammatory polyneuropathy" xsd:string property_value: alternative:term "AIDP" xsd:string property_value: alternative:term "GBS, acute inflammatory demyelinating polyradiculoneuropathic form" xsd:string property_value: alternative:term "Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form" xsd:string [Term] id: Orphanet:98917 name: Acute motor-sensory axonal neuropathy xref: ICD10:G61.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:2103 ! Guillain-Barré syndrome property_value: alternative:term "Acute motor-sensory axonal GBS" xsd:string property_value: alternative:term "Acute motor-sensory axonal Guillain-Barré syndrome" xsd:string property_value: alternative:term "AMSAN" xsd:string [Term] id: Orphanet:98918 name: Acute motor axonal neuropathy xref: ICD10:G61.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:2103 ! Guillain-Barré syndrome property_value: alternative:term "Acute pure motor GBS" xsd:string property_value: alternative:term "Acute pure motor Guillain-Barré syndrome" xsd:string property_value: alternative:term "AMAN" xsd:string [Term] id: Orphanet:98919 name: Miller-Fisher syndrome xref: ICD10:G61.0 xref: MEDDRA:10049567 xref: MESH:D019846 xref: SNOMED CT:1767005 xref: UMLS:C0393799 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:231416 ! Regional variant of Guillain-Barré syndrome property_value: alternative:term "Cranial variant of GBS" xsd:string property_value: alternative:term "Cranial variant of Guillain-Barré syndrome" xsd:string property_value: alternative:term "Fisher syndrome" xsd:string [Term] id: Orphanet:98920 name: Spinal muscular atrophy with respiratory distress xref: ICD10:G12.2 xref: OMIM:604320 xref: OMIM:614399 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:140468 ! Autosomal recessive distal hereditary motor neuropathy property_value: alternative:term "Autosomal recessive distal spinal muscular atrophy type 1" xsd:string property_value: alternative:term "dHMN6" xsd:string property_value: alternative:term "Diaphragmatic spinal muscular atrophy" xsd:string property_value: alternative:term "Distal hereditary motor neuropathy type 6" xsd:string property_value: alternative:term "dSMA1" xsd:string property_value: alternative:term "Severe infantile axonal neuropathy with respiratory failure" xsd:string property_value: alternative:term "SIANRF" xsd:string property_value: alternative:term "SMARD" xsd:string property_value: alternative:term "SMARD1" xsd:string [Term] id: Orphanet:98922 name: Blake pouch cyst xref: ICD10:Q03.1 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98520 ! Cystic malformation of the posterior fossa [Term] id: Orphanet:98932 name: Shy-Drager syndrome xref: ICD10:G90.3 xref: MEDDRA:10040623 xref: MESH:D012791 xref: SNOMED CT:16576004 xref: UMLS:C0037019 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102 ! Multiple system atrophy property_value: alternative:term "MSA - urinary dysfunction" xsd:string property_value: alternative:term "Multiple system atrophy - urinary dysfunction" xsd:string property_value: alternative:term "SDS" xsd:string [Term] id: Orphanet:98933 name: Multiple system atrophy, parkinsonian type xref: ICD10:G23.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:102 ! Multiple system atrophy relationship: part_of Orphanet:306666 ! Rare parkinsonian syndrome due to neurodegenerative disease property_value: alternative:term "MSA, parkinsonian type" xsd:string property_value: alternative:term "MSA-p" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA; see this term) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, postural instability)." xsd:string [Term] id: Orphanet:98934 name: Huntington disease-like 2 xref: OMIM:606438 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:263440 ! Neuroacanthocytosis property_value: alternative:term "HDL2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities." xsd:string [Term] id: Orphanet:98938 name: Colobomatous microphthalmia xref: ICD10:Q11.2 xref: OMIM:251505 xref: OMIM:300345 xref: OMIM:601186 xref: OMIM:605738 xref: OMIM:610092 xref: OMIM:611638 xref: OMIM:613703 xref: OMIM:614497 xref: OMIM:615145 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:2542 ! Isolated anophthalmia - microphthalmia property_value: alternative:term "MAC" xsd:string property_value: alternative:term "Microphthalmia - anophthalmia - coloboma" xsd:string property_value: alternative:term "Microphthalmia with colobomatous cyst" xsd:string [Term] id: Orphanet:98941 name: Von Hippel anomaly xref: ICD10:Q13.4 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:708 ! Peters anomaly [Term] id: Orphanet:98942 name: Coloboma of choroid and retina xref: ICD10:Q14.8 xref: OMIM:120200 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:194 ! Ocular coloboma [Term] id: Orphanet:98943 name: Coloboma of eye lens xref: ICD10:Q12.2 xref: SNOMED CT:204134008 xref: UMLS:C0344516 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:194 ! Ocular coloboma [Term] id: Orphanet:98944 name: Coloboma of iris xref: ICD10:Q13.0 xref: MEDDRA:10052642 xref: OMIM:120200 xref: SNOMED CT:9446007 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:194 ! Ocular coloboma [Term] id: Orphanet:98945 name: Coloboma of macula xref: ICD10:Q14.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:194 ! Ocular coloboma relationship: part_of Orphanet:98665 ! Colobomatous and areolar dystrophy [Term] id: Orphanet:98946 name: Coloboma of eyelid xref: ICD10:Q10.3 xref: SNOMED CT:95202004 xref: UMLS:C0521573 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:194 ! Ocular coloboma relationship: part_of Orphanet:98564 ! Eyelid border anomaly [Term] id: Orphanet:98947 name: Coloboma of optic papilla xref: ICD10:Q14.2 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:194 ! Ocular coloboma [Term] id: Orphanet:98948 name: Congenital symblepharon xref: ICD10:Q11.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:91396 ! Isolated cryptophthalmia [Term] id: Orphanet:98949 name: Complete cryptophthalmia xref: ICD10:Q11.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:91396 ! Isolated cryptophthalmia [Term] id: Orphanet:98950 name: Partial cryptophthalmia xref: ICD10:Q11.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:91396 ! Isolated cryptophthalmia [Term] id: Orphanet:98951 name: Inverse Marcus-Gunn phenomenon xref: ICD10:Q07.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:91412 ! Marcus-Gunn syndrome property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported." xsd:string [Term] id: Orphanet:98954 name: Meesmann corneal dystrophy xref: ICD10:H18.5 xref: MESH:D053559 xref: OMIM:122100 xref: SNOMED CT:1674008 xref: UMLS:C0339277 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98625 ! Superficial corneal dystrophy property_value: alternative:term "Juvenile hereditary epithelial dystrophy of Meesmann" xsd:string property_value: alternative:term "MECD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision." xsd:string [Term] id: Orphanet:98955 name: Lisch epithelial corneal dystrophy xref: ICD10:H18.5 xref: OMIM:300778 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98625 ! Superficial corneal dystrophy property_value: alternative:term "Band-shaped and whorled microcystic dystrophy of the corneal epithelium" xsd:string property_value: alternative:term "LECD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision." xsd:string [Term] id: Orphanet:98956 name: Microcystic corneal dystrophy xref: ICD10:H18.5 xref: OMIM:121820 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98625 ! Superficial corneal dystrophy [Term] id: Orphanet:98957 name: Gelatinous drop-like corneal dystrophy xref: ICD10:H18.5 xref: MESH:C535480 xref: OMIM:204870 xref: SNOMED CT:418946006 xref: UMLS:C0339273 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:98625 ! Superficial corneal dystrophy property_value: alternative:term "GDCD" xsd:string property_value: alternative:term "Primary familial amyloidosis of the cornea" xsd:string property_value: alternative:term "Subepithelial amyloidosis of the cornea" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment." xsd:string [Term] id: Orphanet:98958 name: Honey-droplet corneal dystrophy xref: ICD10:H18.5 xref: OMIM:217500 xref: OMIM:217520 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98625 ! Superficial corneal dystrophy [Term] id: Orphanet:98959 name: Subepithelial mucinous corneal dystrophy xref: ICD10:H18.5 xref: OMIM:612867 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98625 ! Superficial corneal dystrophy property_value: alternative:term "SMCD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision." xsd:string [Term] id: Orphanet:98960 name: Thiel-Behnke corneal dystrophy xref: ICD10:H18.5 xref: OMIM:602082 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98625 ! Superficial corneal dystrophy property_value: alternative:term "Anterior limiting membrane dystrophy type II" xsd:string property_value: alternative:term "Corneal dystrophy of Bowman layer type II" xsd:string property_value: alternative:term "Curly fiber corneal dystrophy" xsd:string property_value: alternative:term "Honeycomb corneal dystrophy" xsd:string property_value: alternative:term "TBCD" xsd:string property_value: alternative:term "Waardenburg-Jonker corneal dystrophy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment." xsd:string [Term] id: Orphanet:98961 name: Reis-Bücklers corneal dystrophy xref: ICD10:H18.5 xref: OMIM:608470 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98625 ! Superficial corneal dystrophy property_value: alternative:term "Anterior limiting membrane dystrophy type I" xsd:string property_value: alternative:term "Atypical granular corneal dystrophy" xsd:string property_value: alternative:term "Corneal dystrophy of Bowman layer type I" xsd:string property_value: alternative:term "Geographic corneal dystrophy" xsd:string property_value: alternative:term "Granular corneal dystrophy type III" xsd:string property_value: alternative:term "RBCD" xsd:string property_value: alternative:term "Superficial granular corneal dystrophy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment." xsd:string [Term] id: Orphanet:98962 name: Granular corneal dystrophy type I xref: ICD10:H18.5 xref: OMIM:121900 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98626 ! Stromal corneal dystrophy property_value: alternative:term "Classic GCD" xsd:string property_value: alternative:term "Classic granular corneal dystrophy" xsd:string property_value: alternative:term "Corneal dystrophy Groenouw type I" xsd:string property_value: alternative:term "GCD1" xsd:string property_value: alternative:term "GCDI" xsd:string property_value: alternative:term "Granular corneal dystrophy type 1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe." xsd:string [Term] id: Orphanet:98963 name: Granular corneal dystrophy type II xref: ICD10:H18.5 xref: MESH:C535474 xref: OMIM:607541 xref: SNOMED CT:397568004 xref: UMLS:C1275685 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98626 ! Stromal corneal dystrophy property_value: alternative:term "Avellino corneal dystrophy" xsd:string property_value: alternative:term "GCD2" xsd:string property_value: alternative:term "GCDII" xsd:string property_value: alternative:term "Granular corneal dystrophy type 2" xsd:string property_value: alternative:term "Granular-lattice corneal dystrophy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment." xsd:string [Term] id: Orphanet:98964 name: Lattice corneal dystrophy type I xref: ICD10:H18.5 xref: OMIM:122200 xref: OMIM:608471 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98626 ! Stromal corneal dystrophy property_value: alternative:term "Biber-Haab-Dimmer dystrophy" xsd:string property_value: alternative:term "Classic lattice corneal dystrophy" xsd:string property_value: alternative:term "Lattice corneal dystrophy type 1" xsd:string property_value: alternative:term "LCD1" xsd:string property_value: alternative:term "LCDI" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy (see this term) characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations." xsd:string [Term] id: Orphanet:98967 name: Schnyder corneal dystrophy xref: ICD10:H18.5 xref: OMIM:121800 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98626 ! Stromal corneal dystrophy property_value: alternative:term "Crystalline stromal dystrophy" xsd:string property_value: alternative:term "Hereditary crystalline stromal dystrophy of Schnyder" xsd:string property_value: alternative:term "SCCD" xsd:string property_value: alternative:term "SCD" xsd:string property_value: alternative:term "Schnyder crystalline corneal dystrophy" xsd:string property_value: alternative:term "Schnyder crystalline dystrophy sine crystals" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy (see this term) characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity." xsd:string [Term] id: Orphanet:98968 name: Central discoid corneal dystrophy is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_98967 with label: Schnyder corneal dystrophy" xsd:string [Term] id: Orphanet:98969 name: Macular corneal dystrophy xref: ICD10:H18.5 xref: MEDDRA:10025406 xref: OMIM:217800 xref: SNOMED CT:60258001 xref: UMLS:C0024439 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:98626 ! Stromal corneal dystrophy property_value: alternative:term "Corneal dystrophy Groenouw type II" xsd:string property_value: alternative:term "Fehr corneal dystrophy" xsd:string property_value: alternative:term "MCD" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy (see this term) characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment." xsd:string [Term] id: Orphanet:98970 name: Fleck corneal dystrophy xref: ICD10:H18.5 xref: OMIM:121850 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98626 ! Stromal corneal dystrophy property_value: alternative:term "FCD" xsd:string property_value: alternative:term "François-Neetens speckled corneal dystrophy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity." xsd:string [Term] id: Orphanet:98971 name: Posterior amorphous corneal dystrophy xref: ICD10:H18.5 xref: OMIM:612868 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98626 ! Stromal corneal dystrophy property_value: alternative:term "PACD" xsd:string property_value: alternative:term "Posterior amorphous stromal dystrophy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy (see this term) characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision." xsd:string [Term] id: Orphanet:98972 name: Central cloudy dystrophy of Francois xref: ICD10:H18.5 xref: OMIM:217600 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98627 ! Posterior corneal dystrophy property_value: alternative:term "CCDF" xsd:string property_value: alternative:term "Central cloudy corneal dystrophy of Francois" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." xsd:string [Term] id: Orphanet:98973 name: Posterior polymorphous corneal dystrophy xref: ICD10:H18.5 xref: OMIM:122000 xref: OMIM:609140 xref: OMIM:609141 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98627 ! Posterior corneal dystrophy relationship: part_of Orphanet:98637 ! Secondary glaucoma due to a proliferation and differentiation anomaly property_value: alternative:term "Posterior polymorphous dystrophy" xsd:string property_value: alternative:term "PPCD" xsd:string property_value: alternative:term "Schlichting dystrophy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision." xsd:string [Term] id: Orphanet:98974 name: Fuchs endothelial corneal dystrophy xref: ICD10:H18.5 xref: OMIM:136800 xref: OMIM:610158 xref: OMIM:613267 xref: OMIM:613268 xref: OMIM:613269 xref: OMIM:613270 xref: OMIM:613271 xref: OMIM:615523 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98627 ! Posterior corneal dystrophy property_value: alternative:term "Endoepithelial corneal dystrophy" xsd:string property_value: alternative:term "FECD" xsd:string property_value: alternative:term "Late hereditary endothelial dystrophy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity." xsd:string [Term] id: Orphanet:98975 name: Congenital hereditary endothelial dystrophy type I xref: ICD10:H18.5 xref: OMIM:121700 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98627 ! Posterior corneal dystrophy property_value: alternative:term "Autosomal dominant CHED" xsd:string property_value: alternative:term "Autosomal dominant congenital hereditary endothelial dystrophy" xsd:string property_value: alternative:term "CHED1" xsd:string property_value: alternative:term "CHEDI" xsd:string property_value: alternative:term "Congenital hereditary endothelial dystrophy type 1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision." xsd:string [Term] id: Orphanet:98976 name: Congenital glaucoma xref: ICD10:Q15.0 xref: OMIM:231300 xref: OMIM:600975 xref: OMIM:613085 xref: OMIM:613086 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:156005 ! Primary glaucoma [Term] id: Orphanet:98977 name: Juvenile glaucoma xref: OMIM:137750 xref: OMIM:231300 xref: OMIM:608695 xref: OMIM:608696 xref: OMIM:610535 xref: OMIM:611274 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:156005 ! Primary glaucoma [Term] id: Orphanet:98978 name: Axenfeld anomaly xref: ICD10:Q13.8 xref: MEDDRA:10058653 xref: OMIM:601631 xref: OMIM:602482 xref: SNOMED CT:204152008 xref: UMLS:C0266548 is_a: Orphanet:91483 ! Rieger anomaly relationship: part_of Orphanet:98633 ! Goniodysgenesis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe’s line and iris bands extending into the cornea. In contrast, Rieger’s anomaly (see this term) includes characteristic iris and pupil anomalies." xsd:string [Term] id: Orphanet:98979 name: Chandler syndrome xref: ICD10:H21.1 xref: MEDDRA:10057487 xref: SNOMED CT:392481002 xref: UMLS:C0544008 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:64734 ! Iridocorneal endothelial syndrome property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy (see these terms)." xsd:string [Term] id: Orphanet:98980 name: Cogan-Reese syndrome xref: ICD10:H21.1 xref: MEDDRA:10059200 xref: SNOMED CT:404633004 xref: UMLS:C1168173 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:64734 ! Iridocorneal endothelial syndrome property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term) characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease." xsd:string [Term] id: Orphanet:98981 name: Essential iris atrophy xref: ICD10:H21.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:64734 ! Iridocorneal endothelial syndrome property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome (see this term), characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease." xsd:string [Term] id: Orphanet:98983 name: Congenital cataract, Volkmann type xref: ICD10:Q12.0 xref: MESH:C538285 xref: OMIM:115665 xref: UMLS:C1861833 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:91492 ! Non-syndromic congenital cataract [Term] id: Orphanet:98984 name: Pulverulent cataract xref: ICD10:Q12.0 xref: OMIM:116200 xref: OMIM:116300 xref: OMIM:601885 xref: OMIM:604307 xref: OMIM:605749 xref: OMIM:610202 xref: OMIM:615277 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:91492 ! Non-syndromic congenital cataract property_value: alternative:term "Dusty cataract" xsd:string [Term] id: Orphanet:98985 name: Cataract with Y-shaped suture opacities xref: ICD10:Q12.0 xref: OMIM:600881 xref: OMIM:601547 xref: OMIM:605728 xref: OMIM:615274 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:91492 ! Non-syndromic congenital cataract [Term] id: Orphanet:98986 name: Cataract, Coppock-like xref: ICD10:Q12.0 xref: OMIM:115700 xref: OMIM:601547 xref: OMIM:601885 xref: OMIM:604307 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:91492 ! Non-syndromic congenital cataract [Term] id: Orphanet:98987 name: Cataract, Hutterite type xref: ICD10:Q12.0 xref: MESH:C538286 xref: OMIM:212500 xref: UMLS:C2931791 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:91492 ! Non-syndromic congenital cataract [Term] id: Orphanet:98988 name: Anterior polar cataract xref: ICD10:Q12.0 xref: MESH:C538282 xref: OMIM:115650 xref: OMIM:601202 xref: OMIM:615188 xref: UMLS:C1855179 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:91492 ! Non-syndromic congenital cataract property_value: alternative:term "Anterior subcapsular cataract" xsd:string [Term] id: Orphanet:98989 name: Cerulean cataract xref: ICD10:Q12.0 xref: MESH:C537955 xref: OMIM:115660 xref: OMIM:115700 xref: OMIM:601547 xref: OMIM:610202 xref: OMIM:614422 xref: OMIM:615274 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:217052 ! Early-onset non-syndromic cataract property_value: alternative:term "Blue-dot cataract" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens." xsd:string [Term] id: Orphanet:98990 name: Coralliform cataract xref: ICD10:Q12.0 xref: OMIM:115700 xref: OMIM:115800 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:91492 ! Non-syndromic congenital cataract [Term] id: Orphanet:98991 name: Nuclear cataract xref: ICD10:Q12.0 xref: MEDDRA:10007759 xref: MEDDRA:10057735 xref: OMIM:115700 xref: OMIM:116400 xref: OMIM:302200 xref: OMIM:601371 xref: OMIM:601547 xref: OMIM:601885 xref: OMIM:604219 xref: OMIM:607304 xref: OMIM:609376 xref: OMIM:609741 xref: OMIM:610019 xref: OMIM:611544 xref: OMIM:615274 xref: SNOMED CT:53889007 xref: UMLS:C0392557 xref: UMLS:C1112705 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:91492 ! Non-syndromic congenital cataract [Term] id: Orphanet:98992 name: Partial congenital cataract xref: ICD10:Q12.0 xref: OMIM:611597 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:91492 ! Non-syndromic congenital cataract [Term] id: Orphanet:98993 name: Posterior polar cataract xref: ICD10:Q12.0 xref: OMIM:115650 xref: OMIM:116600 xref: OMIM:601885 xref: OMIM:605387 xref: OMIM:610623 xref: OMIM:612968 xref: OMIM:613763 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:91492 ! Non-syndromic congenital cataract property_value: alternative:term "Posterior subcapsular cataract" xsd:string [Term] id: Orphanet:98994 name: Total congenital cataract xref: ICD10:Q12.0 xref: MESH:C535341 xref: OMIM:116100 xref: OMIM:116600 xref: OMIM:116700 xref: OMIM:302200 xref: OMIM:601547 xref: OMIM:615188 xref: OMIM:615274 xref: SNOMED CT:29590001 xref: UMLS:C0266539 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:91492 ! Non-syndromic congenital cataract [Term] id: Orphanet:98995 name: Zonular cataract xref: ICD10:Q12.0 xref: MESH:C535342 xref: OMIM:115700 xref: OMIM:116800 xref: OMIM:600881 xref: OMIM:604219 xref: OMIM:604307 xref: OMIM:610425 xref: OMIM:613763 xref: OMIM:615188 xref: OMIM:615274 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:91492 ! Non-syndromic congenital cataract property_value: alternative:term "Lamellar cataract" xsd:string [Term] id: Orphanet:99 name: Autosomal dominant cerebellar ataxia xref: ICD10:G11.8 is_a: Orphanet:183518 ! Rare hereditary ataxia is_a: Orphanet:98540 ! Late-onset ataxia with dementia is_a: Orphanet:98693 ! Spinocerebellar ataxia with oculomotor anomaly property_value: alternative:term "ADCA" xsd:string property_value: alternative:term "Autosomal dominant spinocerebellar ataxia" xsd:string [Term] id: Orphanet:990 name: Agnathia - holoprosencephaly - situs inversus xref: ICD10:Q87.8 xref: OMIM:202650 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102283 ! Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:183763 ! Rare genetic intellectual deficit with developmental anomaly [Term] id: Orphanet:99000 name: Adult-onset foveomacular vitelliform dystrophy xref: ICD10:H35.5 xref: OMIM:608161 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:98664 ! Genetic macular dystrophy property_value: alternative:term "Adult-onset foveomacular dystrophy" xsd:string property_value: alternative:term "Adult-onset foveomacular dystrophy with choroidal neovascularization" xsd:string property_value: alternative:term "Adult-onset vitelliform macular dystrophy" xsd:string property_value: alternative:term "AOFMD" xsd:string property_value: alternative:term "AVMD" xsd:string property_value: alternative:term "Gass disease" xsd:string property_value: alternative:term "Pseudo-Best disease" xsd:string property_value: alternative:term "Pseudo-vitelliform macular dystrophy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region." xsd:string [Term] id: Orphanet:99001 name: Butterfly-shaped pigment dystrophy xref: ICD10:H35.5 xref: OMIM:169150 xref: OMIM:608970 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:63454 ! Patterned dystrophy of the retinal pigment epithelium [Term] id: Orphanet:99002 name: Reticular dystrophy of the retinal pigment epithelium xref: ICD10:H35.5 xref: OMIM:179840 xref: OMIM:267800 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:63454 ! Patterned dystrophy of the retinal pigment epithelium [Term] id: Orphanet:99003 name: Multifocal pattern dystrophy simulating fundus flavimaculatus xref: ICD10:H35.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:63454 ! Patterned dystrophy of the retinal pigment epithelium [Term] id: Orphanet:99004 name: Fundus pulverulentus xref: ICD10:H35.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:63454 ! Patterned dystrophy of the retinal pigment epithelium [Term] id: Orphanet:99012 name: Autosomal recessive optic atrophy, OPA6 type xref: ICD10:H47.2 xref: OMIM:258500 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98676 ! Autosomal recessive isolated optic atrophy property_value: alternative:term "Congenital or early infantile optic atrophy" xsd:string [Term] id: Orphanet:99013 name: Autosomal recessive spastic paraplegia type 7 xref: ICD10:G11.4 xref: OMIM:600146 xref: OMIM:607259 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:320346 ! Pure or complex autosomal recessive spastic paraplegia relationship: part_of Orphanet:35696 ! Mitochondrial disorder due to a defect in mitochondrial protein synthesis relationship: part_of Orphanet:98677 ! Autosomal recessive syndromic optic atrophy property_value: alternative:term "SPG7" xsd:string [Term] id: Orphanet:99014 name: X-linked Charcot-Marie-Tooth disease type 5 xref: ICD10:G60.0 xref: OMIM:311070 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: part_of Orphanet:140462 ! X-linked recessive hereditary axonal motor and sensory neuropathy relationship: part_of Orphanet:64747 ! X-linked Charcot-Marie-Tooth disease relationship: part_of Orphanet:79191 ! Disorder of purine metabolism relationship: part_of Orphanet:98678 ! X-linked recessive optic atrophy property_value: alternative:term "CMT5X" xsd:string property_value: alternative:term "CMTX5" xsd:string [Term] id: Orphanet:99015 name: Spastic paraplegia type 2 xref: ICD10:G11.4 xref: MESH:C536857 xref: OMIM:312920 xref: UMLS:C1839264 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:320350 ! Pure or complex X-linked spastic paraplegia relationship: part_of Orphanet:68356 ! Leukodystrophy relationship: part_of Orphanet:98678 ! X-linked recessive optic atrophy property_value: alternative:term "Spastic gait type 2" xsd:string property_value: alternative:term "Spastic paraparesis type 2" xsd:string property_value: alternative:term "SPG2" xsd:string property_value: alternative:term "X-linked spastic paraplegia type 2" xsd:string [Term] id: Orphanet:99022 name: Niemann-Pick disease type E xref: ICD10:E75.2 xref: OMIM:607616 xref: SNOMED CT:73399005 xref: UMLS:C0268248 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:79225 ! Sphingolipidosis [Term] id: Orphanet:99027 name: Adult-onset autosomal dominant leukodystrophy xref: ICD10:E75.2 xref: OMIM:169500 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:262869 ! Partial trisomy of the long arm of chromosome 5 relationship: part_of Orphanet:68356 ! Leukodystrophy relationship: part_of Orphanet:98691 ! Abnormal eye movements [Term] id: Orphanet:99042 name: Congenitally uncorrected transposition of the great arteries with coarctation xref: ICD10:Q20.3 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:860 ! Congenitally uncorrected transposition of the great arteries property_value: alternative:term "Congenitally uncorrected transposition of the great vessels with coarctation" xsd:string property_value: alternative:term "TGA with coarctation" xsd:string [Term] id: Orphanet:99043 name: Double outlet right ventricle, Fallot type xref: ICD10:Q20.1 xref: ICD10:Q21.3 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3426 ! Double outlet right ventricle property_value: alternative:term "DORV, Fallot type" xsd:string [Term] id: Orphanet:99044 name: Double outlet right ventricle with subaortic ventricular septal defect xref: ICD10:Q20.1 xref: SNOMED CT:253298003 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3426 ! Double outlet right ventricle [Term] id: Orphanet:99045 name: Double outlet right ventricle with subpulmonary ventricular septal defect xref: ICD10:Q20.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3426 ! Double outlet right ventricle [Term] id: Orphanet:99046 name: Double outlet right ventricle with non-committed subpulmonary ventricular septal defect xref: ICD10:Q20.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3426 ! Double outlet right ventricle [Term] id: Orphanet:99047 name: Double outlet right ventricle with doubly committed ventricular septal defect xref: ICD10:Q20.1 xref: SNOMED CT:253300003 xref: UMLS:C0344644 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3426 ! Double outlet right ventricle [Term] id: Orphanet:99048 name: Pulmonary valve agenesis - ventricular septal defect - persistent ductus arteriosus xref: ICD10:Q22.2 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:982 ! Pulmonary valve agenesis property_value: alternative:term "Absence of pulmonary valve - ventricular septal defect - persistent ductus arteriosus" xsd:string property_value: alternative:term "APV/PDA, non-Fallot type" xsd:string property_value: alternative:term "PVA/PDA, non-Fallot type" xsd:string [Term] id: Orphanet:99049 name: Pulmonary artery coming from patent ductus arteriosus xref: ICD10:Q25.7 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:1138 ! Abnormal origin of the pulmonary artery [Term] id: Orphanet:99050 name: Pulmonary artery coming from the aorta xref: ICD10:Q25.7 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:1138 ! Abnormal origin of the pulmonary artery [Term] id: Orphanet:99051 name: Discrete fixed membranous subaortic stenosis xref: ICD10:Q24.4 xref: OMIM:271950 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3092 ! Fixed subaortic stenosis [Term] id: Orphanet:99052 name: Discrete fibromuscular subaortic stenosis xref: ICD10:Q24.4 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3092 ! Fixed subaortic stenosis [Term] id: Orphanet:99053 name: Tunnel subaortic stenosis xref: ICD10:Q24.4 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3092 ! Fixed subaortic stenosis [Term] id: Orphanet:99054 name: Valvular pulmonary stenosis xref: ICD10:Q22.1 xref: MEDDRA:10037450 xref: MESH:D011666 xref: SNOMED CT:56786000 xref: UMLS:C0034089 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:3189 ! Congenital pulmonary valve stenosis [Term] id: Orphanet:99055 name: Anomaly of the tricuspid valve chordae xref: ICD10:Q22.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95463 ! Anomaly of the tricuspid subvalvular apparatus [Term] id: Orphanet:99056 name: Parachute tricuspid valve xref: ICD10:Q22.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95463 ! Anomaly of the tricuspid subvalvular apparatus [Term] id: Orphanet:99057 name: Congenital mitral stenosis xref: ICD10:Q23.2 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95464 ! Congenital mitral valve insufficiency and/or stenosis [Term] id: Orphanet:99058 name: Hypoplasia of the mitral valve annulus xref: ICD10:Q23.2 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95464 ! Congenital mitral valve insufficiency and/or stenosis [Term] id: Orphanet:99059 name: Congenital supravalvular mitral ring xref: ICD10:Q23.2 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95464 ! Congenital mitral valve insufficiency and/or stenosis [Term] id: Orphanet:99060 name: Congenital unguarded mitral orifice xref: ICD10:Q23.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95464 ! Congenital mitral valve insufficiency and/or stenosis [Term] id: Orphanet:99061 name: Accessory mitral valve tissue xref: ICD10:Q23.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95464 ! Congenital mitral valve insufficiency and/or stenosis [Term] id: Orphanet:99062 name: Mitral valve agenesis xref: ICD10:Q23.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95464 ! Congenital mitral valve insufficiency and/or stenosis [Term] id: Orphanet:99063 name: Shone complex xref: ICD10:Q23.8 xref: MEDDRA:10066802 xref: UMLS:C1868705 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:95464 ! Congenital mitral valve insufficiency and/or stenosis [Term] id: Orphanet:99064 name: Straddling and/or overriding mitral valve xref: ICD10:Q23.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:95465 ! Cleft mitral valve [Term] id: Orphanet:99066 name: Complete atrioventricular canal - left heart obstruction xref: ICD10:Q21.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:1329 ! Complete atrioventricular canal property_value: alternative:term "CAVC - left heart obstruction" xsd:string property_value: alternative:term "CAVC type A" xsd:string property_value: alternative:term "Complete atrioventricular canal type A" xsd:string [Term] id: Orphanet:99067 name: Complete atrioventricular canal - ventricle hypoplasia xref: ICD10:Q21.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:1329 ! Complete atrioventricular canal property_value: alternative:term "CAVC - ventricle hypoplasia" xsd:string property_value: alternative:term "CAVC type B" xsd:string property_value: alternative:term "Complete atrioventricular canal type B" xsd:string [Term] id: Orphanet:99068 name: Complete atrioventricular canal - Fallot tetralogy xref: ICD10:Q21.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:1329 ! Complete atrioventricular canal property_value: alternative:term "CAVC - Fallot tetralogy" xsd:string property_value: alternative:term "CAVC type C" xsd:string property_value: alternative:term "Complete atrioventricular canal type C" xsd:string [Term] id: Orphanet:99069 name: Univentricular heart with single atrio-ventricular valve xref: ICD10:Q20.4 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:1464 ! Univentricular heart [Term] id: Orphanet:99070 name: Aorto-right ventricular tunnel xref: ICD10:Q20.8 xref: SNOMED CT:253650001 xref: UMLS:C0345055 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:3400 ! Aorto-ventricular tunnel [Term] id: Orphanet:99071 name: Aorto-left ventricular tunnel xref: ICD10:Q20.8 xref: SNOMED CT:26201005 xref: UMLS:C0345054 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:3400 ! Aorto-ventricular tunnel [Term] id: Orphanet:99072 name: Congenital patent ductus arteriosus aneurysm xref: ICD10:Q25.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95485 ! Arterial duct anomaly [Term] id: Orphanet:99075 name: Encircling double aortic arch xref: ICD10:Q25.4 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:1132 ! Aortic arch defects [Term] id: Orphanet:99076 name: Persistent fifth aortic arch xref: ICD10:Q25.4 xref: SNOMED CT:253658008 xref: UMLS:C0345066 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:1132 ! Aortic arch defects [Term] id: Orphanet:99077 name: Kommerell diverticulum xref: ICD10:Q25.4 xref: SNOMED CT:74561007 xref: UMLS:C0265885 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:1132 ! Aortic arch defects [Term] id: Orphanet:99078 name: Neuhauser anomaly xref: ICD10:Q25.4 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:1132 ! Aortic arch defects [Term] id: Orphanet:99079 name: Cervical aortic arch xref: ICD10:Q25.4 xref: SNOMED CT:253657003 xref: UMLS:C0345065 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:1132 ! Aortic arch defects property_value: alternative:term "Aortic arch syndrome" xsd:string [Term] id: Orphanet:99081 name: Right aortic arch xref: ICD10:Q25.4 xref: MEDDRA:10067407 xref: SNOMED CT:111321007 xref: SNOMED CT:244229003 xref: UMLS:C0035615 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:1132 ! Aortic arch defects [Term] id: Orphanet:99082 name: Dysphagia lusoria xref: ICD10:Q25.4 xref: SNOMED CT:231719009 xref: UMLS:C0267073 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:1132 ! Aortic arch defects [Term] id: Orphanet:99083 name: Pulmonary artery hypoplasia xref: ICD10:Q25.7 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98719 ! Pulmonary artery or pulmonary branch anomaly [Term] id: Orphanet:99084 name: Pulmonary branch stenosis xref: ICD10:Q25.6 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98719 ! Pulmonary artery or pulmonary branch anomaly [Term] id: Orphanet:99085 name: Coronary artery intramyocardial course xref: ICD10:Q24.5 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95493 ! Abnormal origin or aberrant course of coronary artery [Term] id: Orphanet:99086 name: Aorto-pulmonary coronary arterial course xref: ICD10:Q24.5 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95493 ! Abnormal origin or aberrant course of coronary artery [Term] id: Orphanet:99087 name: Stenosis or atrophy of the coronary ostium xref: ICD10:Q24.5 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95493 ! Abnormal origin or aberrant course of coronary artery [Term] id: Orphanet:99088 name: Intramural coronary arterial course xref: ICD10:Q24.5 xref: SNOMED CT:253715000 xref: UMLS:C0345123 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95493 ! Abnormal origin or aberrant course of coronary artery [Term] id: Orphanet:99089 name: Abnormal number of coronary ostia xref: ICD10:Q24.5 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95493 ! Abnormal origin or aberrant course of coronary artery [Term] id: Orphanet:99090 name: Malposition of the coronary ostium xref: ICD10:Q24.5 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95493 ! Abnormal origin or aberrant course of coronary artery [Term] id: Orphanet:99092 name: Interventricular septum aneurysm xref: ICD10:Q21.0 xref: OMIM:105805 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:1480 ! Ventricular septal defect [Term] id: Orphanet:99094 name: Laubry-Pezzi syndrome xref: ICD10:Q21.0 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:1480 ! Ventricular septal defect property_value: alternative:term "Ventricular septal defect with aortic insufficiency" xsd:string property_value: alternative:term "VSD with aortic insufficiency" xsd:string [Term] id: Orphanet:99095 name: Gerbode defect xref: ICD10:Q21.0 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:1480 ! Ventricular septal defect property_value: alternative:term "Left ventricular-to-right atrial communication" xsd:string [Term] id: Orphanet:99096 name: Multiple ventricular septal defects xref: ICD10:Q21.0 xref: SNOMED CT:253550006 xref: UMLS:C0344923 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:1480 ! Ventricular septal defect [Term] id: Orphanet:99097 name: Single ventricular septal defect xref: ICD10:Q21.0 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:1480 ! Ventricular septal defect [Term] id: Orphanet:99098 name: Cor triatriatum dexter xref: ICD10:Q24.2 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:1463 ! Triatrial heart property_value: alternative:term "Cor triatriatum dextrum" xsd:string [Term] id: Orphanet:99099 name: Cor triatriatum sinister xref: ICD10:Q24.2 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:1463 ! Triatrial heart property_value: alternative:term "Cor triatriatum sinistrum" xsd:string [Term] id: Orphanet:991 name: PAGOD syndrome xref: ICD10:Q87.8 xref: OMIM:202660 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:180148 ! Syndromic uterovaginal malformation relationship: part_of Orphanet:180779 ! Syndromic diaphragmatic or thoracic malformation relationship: part_of Orphanet:325109 ! Syndrome with 46,XX disorder of sex development relationship: part_of Orphanet:325638 ! Syndrome with disorder of sex development of gynecological interest relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:98087 ! Syndrome with 46,XY disorder of sex development property_value: alternative:term "Pulmonary hypoplasia - agonadism - dextrocardia - diaphragmatic hernia syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies." xsd:string [Term] id: Orphanet:99100 name: Juxtaposition of the atrial appendages xref: ICD10:Q20.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95510 ! Atrial appendage anomaly property_value: alternative:term "Juxtaposition of the atrial auricles" xsd:string [Term] id: Orphanet:99101 name: Ectasia of the right atrial appendage xref: ICD10:Q20.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95510 ! Atrial appendage anomaly property_value: alternative:term "Dilatation of the right atrial appendage" xsd:string property_value: alternative:term "Dilatation of the right atrial auricle" xsd:string property_value: alternative:term "Ectasia of the right atrial auricle" xsd:string [Term] id: Orphanet:99102 name: Ectasia of the left appendage xref: ICD10:Q20.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95510 ! Atrial appendage anomaly property_value: alternative:term "Dilatation of the left appendage" xsd:string property_value: alternative:term "Dilatation of the left auricle" xsd:string property_value: alternative:term "Ectasia of the left auricle" xsd:string [Term] id: Orphanet:99103 name: Atrial septal defect, ostium secundum type xref: ICD10:Q21.1 xref: MEDDRA:10031302 xref: MEDDRA:10031303 xref: OMIM:108800 xref: OMIM:607941 xref: OMIM:611363 xref: OMIM:612794 xref: OMIM:613087 xref: OMIM:614089 xref: OMIM:614433 xref: OMIM:614475 xref: SNOMED CT:204315000 xref: SNOMED CT:204318003 xref: UMLS:C0344724 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:1478 ! Interauricular communication property_value: alternative:term "ASD, ostium secundum type" xsd:string [Term] id: Orphanet:99104 name: Atrial septal defect, coronary sinus type xref: ICD10:Q21.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:1478 ! Interauricular communication property_value: alternative:term "ASD, coronary sinus type" xsd:string property_value: alternative:term "Unroofed coronary sinus" xsd:string [Term] id: Orphanet:99105 name: Atrial septal defect, sinus venosus type xref: ICD10:Q21.1 xref: MESH:C548009 xref: OMIM:614433 xref: SNOMED CT:95268002 xref: UMLS:C0344730 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:1478 ! Interauricular communication property_value: alternative:term "ASD, sinus venosus type" xsd:string [Term] id: Orphanet:99106 name: Atrial septal defect, ostium primum type xref: ICD10:Q21.2 xref: MESH:C548006 xref: OMIM:108800 xref: OMIM:613087 xref: UMLS:C0741296 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:1478 ! Interauricular communication property_value: alternative:term "ASD, ostium primum type" xsd:string [Term] id: Orphanet:99107 name: Atrial septal aneurysm xref: ICD10:Q21.1 xref: SNOMED CT:95440004 xref: UMLS:C0521533 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98727 ! Atrial defect and interauricular communication [Term] id: Orphanet:99108 name: Patent foramen ovale xref: ICD10:Q21.1 xref: MEDDRA:10016982 xref: MESH:D054092 xref: SNOMED CT:204317008 xref: UMLS:C0016522 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98727 ! Atrial defect and interauricular communication [Term] id: Orphanet:99109 name: Persistent left superior vena cava connecting to the left-sided atrium xref: ICD10:Q26.1 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95498 ! Congenital anomaly of superior vena cava property_value: alternative:term "Persistent left superior caval vein connecting to the left-sided atrium" xsd:string property_value: alternative:term "Persistent left SVC connecting to the left-sided atrium" xsd:string [Term] id: Orphanet:99110 name: Right superior vena cava connecting to left-sided atrium xref: ICD10:Q26.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95498 ! Congenital anomaly of superior vena cava property_value: alternative:term "Right superior caval vein connecting to left-sided atrium" xsd:string property_value: alternative:term "Right SVC connecting to left-sided atrium" xsd:string [Term] id: Orphanet:99111 name: Left superior vena cava persisting to left-sided atrium xref: ICD10:Q26.1 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95498 ! Congenital anomaly of superior vena cava property_value: alternative:term "Left superior caval vein persisting to left-sided atrium" xsd:string property_value: alternative:term "Left SVC persisting to left-sided atrium" xsd:string [Term] id: Orphanet:99112 name: Absence of innominate vein xref: ICD10:Q26.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95498 ! Congenital anomaly of superior vena cava property_value: alternative:term "Absence of brachiocephalic vein" xsd:string [Term] id: Orphanet:99113 name: Subaortic course of innominate vein xref: ICD10:Q26.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95498 ! Congenital anomaly of superior vena cava property_value: alternative:term "Subaortic course of brachiocephalic vein" xsd:string [Term] id: Orphanet:99114 name: Agenesis of the superior vena cava xref: ICD10:Q26.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95498 ! Congenital anomaly of superior vena cava property_value: alternative:term "Absence of the superior caval vein" xsd:string property_value: alternative:term "Absence of the superior vena cava" xsd:string property_value: alternative:term "Absence of the SVC" xsd:string property_value: alternative:term "Agenesis of the superior caval vein" xsd:string property_value: alternative:term "Agenesis of the SVC" xsd:string [Term] id: Orphanet:99117 name: Coronary sinus stenosis xref: ICD10:Q21.1 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95500 ! Congenital anomaly of the coronary sinus [Term] id: Orphanet:99118 name: Coronary sinus atresia xref: ICD10:Q21.1 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95500 ! Congenital anomaly of the coronary sinus [Term] id: Orphanet:99119 name: Right inferior vena cava connecting to left-sided atrium xref: ICD10:Q26.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95499 ! Congenital anomaly of the inferior vena cava property_value: alternative:term "Right inferior caval vein connecting to left-sided atrium" xsd:string property_value: alternative:term "Right IVC connecting to left-sided atrium" xsd:string [Term] id: Orphanet:99120 name: Persistent eustachian valve xref: ICD10:Q26.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95499 ! Congenital anomaly of the inferior vena cava [Term] id: Orphanet:99121 name: Azygos continuation of the inferior vena cava xref: ICD10:Q26.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95499 ! Congenital anomaly of the inferior vena cava property_value: alternative:term "Azygos continuation of the inferior caval vein" xsd:string property_value: alternative:term "Azygos continuation of the IVC" xsd:string [Term] id: Orphanet:99122 name: Congenital stenosis of the inferior vena cava xref: ICD10:Q26.0 xref: SNOMED CT:62335009 xref: UMLS:C0265934 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95499 ! Congenital anomaly of the inferior vena cava property_value: alternative:term "Congenital stenosis of the inferior caval vein" xsd:string property_value: alternative:term "Congenital stenosis of the IVC" xsd:string [Term] id: Orphanet:99123 name: Inferior vena cava interruption xref: ICD10:Q26.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:95499 ! Congenital anomaly of the inferior vena cava property_value: alternative:term "Inferior caval vein interruption" xsd:string property_value: alternative:term "IVC interruption" xsd:string [Term] id: Orphanet:99124 name: Congenital partial pulmonary venous return anomaly xref: ICD10:Q26.3 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:3090 ! Congenital pulmonary venous return anomaly [Term] id: Orphanet:99125 name: Congenital total pulmonary venous return anomaly xref: ICD10:Q26.2 xref: OMIM:106700 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:3090 ! Congenital pulmonary venous return anomaly [Term] id: Orphanet:99129 name: Congenital complete agenesis of pericardium xref: ICD10:Q24.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:2846 ! Congenital pericardium anomaly [Term] id: Orphanet:99130 name: Congenital partial agenesis of pericardium xref: ICD10:Q24.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:2846 ! Congenital pericardium anomaly [Term] id: Orphanet:99131 name: Pleuro-pericardial cyst xref: ICD10:Q24.8 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:2846 ! Congenital pericardium anomaly [Term] id: Orphanet:99134 name: Intermediate stomatocytosis syndrome is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98365 ! Stomatocytosis [Term] id: Orphanet:99135 name: 6-phosphogluconate dehydrogenase deficiency xref: ICD10:D55.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:98370 ! Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies [Term] id: Orphanet:99138 name: Hemolytic anemia due to erythrocyte adenosine deaminase overproduction xref: ICD10:D55.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:79191 ! Disorder of purine metabolism relationship: part_of Orphanet:98374 ! Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder [Term] id: Orphanet:99141 name: Posterior choanal atresia - lymphedema syndrome is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:89832 ! Syndromic lymphedema property_value: alternative:term "Atrésie choanale postérieure - lymphoedème" xsd:string [Term] id: Orphanet:99147 name: Acquired Von Willebrand syndrome xref: ICD10:D68.4 xref: MEDDRA:10069495 xref: SNOMED CT:234451005 xref: UMLS:C0272362 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:166775 ! Rare hemorrhagic disorder due to an acquired coagulation factor defect property_value: alternative:term "Acquired Von Willebrand disease" xsd:string [Term] id: Orphanet:99169 name: Epiblepharon xref: ICD10:Q10.3 xref: SNOMED CT:253212001 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98567 ! Eyelids malposition disorder [Term] id: Orphanet:99170 name: Tarsal kink syndrome is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98568 ! Congenital entropion [Term] id: Orphanet:99171 name: Isolated congenital ectropion is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98570 ! Congenital ectropion [Term] id: Orphanet:99172 name: Euryblepharon xref: ICD10:Q10.1 xref: SNOMED CT:400954002 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98570 ! Congenital ectropion [Term] id: Orphanet:99176 name: Congenital eyelid retraction is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98579 ! Congenital upper palpebral retraction [Term] id: Orphanet:99177 name: Isolated distichiasis xref: ICD10:Q10.3 xref: OMIM:126300 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:98600 ! Eyebrow/eyelashes distichiasis [Term] id: Orphanet:99179 name: Kandori fleck retina xref: ICD10:H35.5 xref: OMIM:228990 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:227786 ! Familial flecked retinopathy [Term] id: Orphanet:99226 name: Monosomy X xref: ICD10:Q96.0 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:881 ! Turner syndrome [Term] id: Orphanet:99228 name: Mosaic monosomy X xref: ICD10:Q96.3 xref: ICD10:Q96.4 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:881 ! Turner syndrome [Term] id: Orphanet:99324 name: Paternal uniparental disomy of chromosome 13 xref: ICD10:Q99.8 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98154 ! Uniparental disomy of paternal origin property_value: alternative:term "UPD(13)pat" xsd:string [Term] id: Orphanet:99329 name: 48,XYYY syndrome xref: ICD10:Q98.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:102369 ! Rare intellectual deficit with developmental anomaly relationship: part_of Orphanet:165707 ! Syndromic urogenital tract malformation relationship: part_of Orphanet:263746 ! Y chromosome number anomaly relationship: part_of Orphanet:98048 ! Rare male infertility [Term] id: Orphanet:99330 name: 49,XYYYY syndrome xref: ICD10:Q98.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:263746 ! Y chromosome number anomaly relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit [Term] id: Orphanet:99361 name: Familial medullary thyroid carcinoma xref: ICD10:C73 xref: MESH:C536911 xref: OMIM:155240 xref: UMLS:C1833921 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:653 ! Multiple endocrine neoplasia type 2 property_value: alternative:term "Familial MTC" xsd:string [Term] id: Orphanet:994 name: Fetal akinesia deformation sequence xref: ICD10:Q87.8 xref: OMIM:208150 xref: OMIM:300073 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:102285 ! Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit relationship: part_of Orphanet:108993 ! Nonsyndromic respiratory or mediastinal malformation relationship: part_of Orphanet:108995 ! Syndromic respiratory or mediastinal malformation relationship: part_of Orphanet:182108 ! Thoracic malformation relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "Arthrogryposis multiplex congenita - pulmonary hypoplasia" xsd:string property_value: alternative:term "FADS" xsd:string property_value: alternative:term "Pena-Shokeir syndrome type 1" xsd:string [Term] id: Orphanet:99408 name: Pituitary adenoma xref: ICD10:D35.2 xref: MEDDRA:10035079 xref: SNOMED CT:128664001 xref: SNOMED CT:254956000 xref: UMLS:C0032000 is_a: Orphanet:304055 ! Pituitary tumor is_a: Orphanet:95503 ! Pituitary hormone deficiency from tumoral origin [Term] id: Orphanet:99413 name: Turner syndrome due to structural X chromosome anomalies xref: ICD10:Q96.1 xref: ICD10:Q96.2 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:881 ! Turner syndrome [Term] id: Orphanet:99429 name: Complete androgen insensitivity syndrome xref: ICD10:E34.5 xref: OMIM:300068 xref: OMIM:300274 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:754 ! Androgen insensitivity syndrome property_value: alternative:term "CAIS" xsd:string property_value: alternative:term "Complete androgen resistance syndrome" xsd:string [Term] id: Orphanet:995 name: X-linked fetal akinesia syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_994 with label: Fetal akinesia deformation sequence" xsd:string [Term] id: Orphanet:99642 name: Spondyloepimetaphyseal dysplasia, Handigodu type xref: ICD10:Q77.7 xref: OMIM:613343 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:253 ! Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia [Term] id: Orphanet:99645 name: Dappled diaphyseal dysplasia xref: ICD10:Q77.3 xref: SNOMED CT:389262009 xref: UMLS:C1300227 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:93442 ! Chondrodysplasia punctata [Term] id: Orphanet:99646 name: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria xref: OMIM:614875 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components [Term] id: Orphanet:99647 name: Cheiro-spondylo-enchondromatosis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:93450 ! Primary bone dysplasia with disorganized development of skeletal components [Term] id: Orphanet:99657 name: Primary dystonia, DYT2 type xref: ICD10:G24.1 xref: OMIM:224500 xref: OMIM:612406 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:1866 ! Focal, segmental or multifocal dystonia property_value: alternative:term "DYT2" xsd:string [Term] id: Orphanet:99672 name: Fried's tooth and nail syndrome xref: OMIM:602401 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome [Term] id: Orphanet:99688 name: Dermotrichic syndrome is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:79373 ! Ectodermal dysplasia syndrome [Term] id: Orphanet:99694 name: Alveolar synechia - ankyloblepharon - ectodermal dysplasia is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_1071 with label: Ankyloblepharon - ectodermal defects - cleft lip/palate" xsd:string [Term] id: Orphanet:99701 name: Mesial temporal lobe epilepsy with hippocampal sclerosis is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:309 ! Familial partial epilepsy [Term] id: Orphanet:99706 name: Progeria-associated arthropathy is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:182231 ! Rare rheumatologic disease relationship: part_of Orphanet:271870 ! Rare genetic systemic or rheumatologic disease [Term] id: Orphanet:99715 name: MASS syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_284963 with label: Marfan syndrome type 1" xsd:string [Term] id: Orphanet:99718 name: Leber 'plus' disease xref: ICD10:H47.2 xref: OMIM:165200 xref: OMIM:500001 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108936 ! mitochondrial inheritance relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:217587 ! Mitochondrial disease with hypertrophic cardiomyopathy relationship: part_of Orphanet:217613 ! Mitochondrial disease with dilated cardiomyopathy relationship: part_of Orphanet:254776 ! Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA relationship: part_of Orphanet:98671 ! Optic neuropathy relationship: part_of Orphanet:98695 ! Mitochondrial disease with eye involvement [Term] id: Orphanet:99722 name: Sporadic achalasia xref: ICD10:K22.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:930 ! Idiopathic achalasia [Term] id: Orphanet:99723 name: Familial esophageal achalasia xref: ICD10:K22.0 xref: MESH:C536011 xref: OMIM:200400 xref: UMLS:C1860213 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:165658 ! Genetic gastro-esophageal disease relationship: part_of Orphanet:930 ! Idiopathic achalasia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Familial esophageal achalasia is an inherited form of primary achalasia (see this term), a disorder of esophageal mobility, and is characterized by dysphagia due to the inability of the lower esophageal sphincter to relax." xsd:string [Term] id: Orphanet:99725 name: Gigantism xref: ICD10:E22.0 xref: MEDDRA:10018265 xref: MESH:D005877 xref: OMIM:102200 xref: SNOMED CT:80849007 xref: UMLS:C0017547 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:96256 ! Somatotroph adenoma property_value: alternative:term "Infantile and juvenile forms of acromegaly" xsd:string [Term] id: Orphanet:99731 name: Isolated sulfite oxidase deficiency xref: ICD10:E72.1 xref: OMIM:272300 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: part_of Orphanet:833 ! Encephalopathy due to sulfite oxidase deficiency property_value: alternative:term "ISOD" xsd:string property_value: alternative:term "Sulfocysteinuria" xsd:string [Term] id: Orphanet:99732 name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency xref: ICD10:E72.1 xref: OMIM:252150 xref: OMIM:252160 xref: OMIM:615501 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! etiological subtype relationship: part_of Orphanet:309833 ! Disorder of other vitamins and cofactors metabolism and transport relationship: part_of Orphanet:833 ! Encephalopathy due to sulfite oxidase deficiency property_value: alternative:term "Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase" xsd:string property_value: alternative:term "MOCOD" xsd:string [Term] id: Orphanet:99734 name: Myotonia fluctuans xref: ICD10:G71.1 xref: OMIM:608390 xref: UMLS:C0752355 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:612 ! Potassium-aggravated myotonia property_value: alternative:term "Exercise-induced delayed-onset myotonia" xsd:string property_value: alternative:term "Fluctuating myotonia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion." xsd:string [Term] id: Orphanet:99735 name: Myotonia permanens xref: ICD10:G71.1 xref: OMIM:608390 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:612 ! Potassium-aggravated myotonia property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM, see this term)." xsd:string [Term] id: Orphanet:99736 name: Acetazolamide-responsive myotonia xref: ICD10:G71.1 xref: OMIM:608390 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:612 ! Potassium-aggravated myotonia property_value: alternative:term "Acetazolamide-responsive congenital myotonia" xsd:string property_value: alternative:term "ACZ-responsive congenital myotonia" xsd:string property_value: alternative:term "ACZ-responsive myotonia" xsd:string property_value: alternative:term "Myotonia - painful contractions" xsd:string property_value: alternative:term "Painful congenital myotonia" xsd:string property_value: alternative:term "Painful myotonia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ)." xsd:string [Term] id: Orphanet:99739 name: Familial hypertrophic cardiomyopathy xref: MESH:D024741 xref: UMLS:C0949658 is_a: Orphanet:217569 ! Hypertrophic cardiomyopathy is_a: Orphanet:98054 ! Rare genetic cardiac disease property_value: alternative:term "Familial hypertrophic obstructive cardiomyopathy" xsd:string property_value: alternative:term "Familial hypertrophic subaortic stenosis" xsd:string [Term] id: Orphanet:99741 name: King-Denborough syndrome xref: ICD10:G71.2 xref: MESH:C536883 xref: OMIM:145600 xref: UMLS:C1840365 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:102284 ! Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:108987 ! Syndromic developmental defect of the eye relationship: part_of Orphanet:139021 ! Malformation syndrome with short stature relationship: part_of Orphanet:183570 ! Genetic malformation syndrome with short stature relationship: part_of Orphanet:330197 ! Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit relationship: part_of Orphanet:97245 ! Congenital myopathy property_value: alternative:term "Koussef-Nichols syndrome" xsd:string [Term] id: Orphanet:99742 name: Amish lethal microcephaly xref: ICD10:Q02 xref: OMIM:607196 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:269528 ! Syndrome with microcephaly as major feature property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year." xsd:string [Term] id: Orphanet:99745 name: Typhoid xref: ICD10:A01.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:795 ! Rare form of salmonellosis property_value: alternative:term "Enteric fever" xsd:string property_value: alternative:term "Paratyphoid fever" xsd:string property_value: alternative:term "Typhoid fever" xsd:string property_value: alternative:term "Typhoidal salmonellosis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " and characterized by a non-focal fever." xsd:string [Term] id: Orphanet:99748 name: Pontiac fever xref: ICD10:A48.2 xref: MEDDRA:10054161 xref: SNOMED CT:240447002 xref: UMLS:C0343528 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:549 ! Legionellosis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pontiac fever (PF) is a mild form of legionellosis (see this term) manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia." xsd:string [Term] id: Orphanet:99749 name: Kostmann syndrome xref: ICD10:D70 xref: OMIM:610738 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:140162 ! Inherited cancer-predisposing syndrome relationship: part_of Orphanet:42738 ! Severe congenital neutropenia [Term] id: Orphanet:99750 name: Atypical progressive supranuclear palsy xref: ICD10:G23.1 xref: MESH:C537240 xref: OMIM:260540 xref: UMLS:C1850077 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:683 ! Progressive supranuclear palsy property_value: alternative:term "Atypical PSP" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome; see this term), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA) (see these terms)." xsd:string [Term] id: Orphanet:99756 name: Alveolar rhabdomyosarcoma xref: ICD10:C49 xref: MEDDRA:10065867 xref: MESH:D018232 xref: OMIM:268220 xref: SNOMED CT:404053004 xref: SNOMED CT:63449009 xref: UMLS:C0206655 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:780 ! Rhabdomyosarcoma [Term] id: Orphanet:99757 name: Embryonal rhabdomyosarcoma xref: ICD10:C49 xref: MEDDRA:10065868 xref: MESH:D018233 xref: OMIM:268210 xref: SNOMED CT:14269005 xref: SNOMED CT:404051002 xref: UMLS:C0206656 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:780 ! Rhabdomyosarcoma [Term] id: Orphanet:99763 name: Familial hyperreninemic hypoaldosteronism type 1 xref: ICD10:E27.4 xref: OMIM:203400 xref: OMIM:610600 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:427 ! Familial hypoaldosteronism property_value: alternative:term "18-hydroxylase deficiency" xsd:string property_value: alternative:term "18-oxidase deficiency" xsd:string property_value: alternative:term "Aldosterone synthase deficiency" xsd:string property_value: alternative:term "CMO I" xsd:string property_value: alternative:term "CMO II" xsd:string property_value: alternative:term "Corticosterone methyloxidase deficiency type I" xsd:string property_value: alternative:term "FHHA1" xsd:string [Term] id: Orphanet:99764 name: Familial hyperreninemic hypoaldosteronism type 2 xref: ICD10:E27.4 xref: OMIM:606984 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:427 ! Familial hypoaldosteronism property_value: alternative:term "Aldosterone synthase deficiency unlinked to CYP11B2" xsd:string property_value: alternative:term "Aldosterone synthase deficiency unlinked to the aldosterone synthase gene" xsd:string property_value: alternative:term "FHHA2" xsd:string [Term] id: Orphanet:99771 name: Bifid uvula xref: ICD10:Q35.7 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:2014 ! Cleft palate property_value: alternative:term "Bifidity of the uvula" xsd:string property_value: alternative:term "Uvular cleft" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate." xsd:string [Term] id: Orphanet:99772 name: Cleft velum xref: ICD10:Q35.3 xref: OMIM:119570 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108925 ! 1-5 / 10 000 relationship: part_of Orphanet:2014 ! Cleft palate property_value: alternative:term "Cleft velum palatinum" xsd:string property_value: alternative:term "Soft cleft palate" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate." xsd:string [Term] id: Orphanet:99776 name: Mosaic trisomy 9 xref: ICD10:Q92.1 xref: MESH:C535454 xref: UMLS:C2930908 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: part_of Orphanet:98131 ! Total autosomal trisomy [Term] id: Orphanet:99777 name: Achalasia-alacrimia syndrome is_a: ObsoleteClass ! obsolete_class property_value: http://www.ebi.ac.uk/efo/reason_for_obsolescence "use http://www.orpha.net/ORDO/Orphanet_869 with label: Triple A syndrome" xsd:string [Term] id: Orphanet:99781 name: Familial articular chondrocalcinosis type 1 xref: ICD10:M11.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:1416 ! Familial articular chondrocalcinosis property_value: alternative:term "CCAL1" xsd:string [Term] id: Orphanet:99782 name: Familial articular chondrocalcinosis type 2 xref: ICD10:M11.1 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:1416 ! Familial articular chondrocalcinosis property_value: alternative:term "CCAL2" xsd:string [Term] id: Orphanet:99789 name: Dentin dysplasia type I xref: ICD10:K00.5 xref: MESH:C538215 xref: OMIM:125400 xref: OMIM:146400 xref: SNOMED CT:109493006 xref: UMLS:C0399379 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:1653 ! Dentin dysplasia property_value: alternative:term "DD-I" xsd:string property_value: alternative:term "DTDP1" xsd:string property_value: alternative:term "Radicular dentin dysplasia" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth." xsd:string [Term] id: Orphanet:99791 name: Dentin dysplasia type II xref: ICD10:K00.5 xref: OMIM:125420 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:1653 ! Dentin dysplasia property_value: alternative:term "DD-II" xsd:string property_value: alternative:term "DTDP2" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD, see this term) characterized by normal tooth roots but abnormal primary dentition." xsd:string [Term] id: Orphanet:99792 name: Dentin dysplasia - sclerotic bones xref: ICD10:K00.5 xref: MESH:C538213 xref: OMIM:125440 xref: UMLS:C1852201 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:77830 ! Rare genetic odontologic disease relationship: part_of Orphanet:98027 ! Rare disease with odontological manifestation [Term] id: Orphanet:99796 name: Subcortical band heterotopia xref: ICD10:Q04.3 xref: OMIM:300067 xref: OMIM:600348 xref: OMIM:607432 xref: UMLS:C1848201 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:163209 ! Nonsyndromic cerebral malformation due to abnormal neuronal migration property_value: alternative:term "Subcortical laminar heterotopia" xsd:string [Term] id: Orphanet:99797 name: Anodontia xref: ICD10:K00.0 xref: MEDDRA:10002583 xref: MESH:D000848 xref: OMIM:206780 xref: SNOMED CT:26624006 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: part_of Orphanet:164001 ! Rare odontal or periodontal disorder property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth." xsd:string [Term] id: Orphanet:99798 name: Oligodontia xref: ICD10:K00.0 xref: OMIM:106600 xref: OMIM:150400 xref: OMIM:313500 xref: OMIM:604625 xref: OMIM:610926 xref: OMIM:613097 is_a: Orphanet:377791 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! morphological anamoly relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:164001 ! Rare odontal or periodontal disorder property_value: alternative:term "Selective tooth agenesis" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth." xsd:string [Term] id: Orphanet:998 name: Albinism-deafness syndrome xref: ICD10:H90.5 xref: MESH:C537042 xref: OMIM:300700 xref: UMLS:C1845068 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108934 ! x linked recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:183469 ! Genetic hypopigmentation of the skin relationship: part_of Orphanet:79376 ! Hypopigmentation of the skin relationship: part_of Orphanet:90642 ! Syndromic genetic deafness [Term] id: Orphanet:99802 name: Hemimegalencephaly xref: ICD10:Q04.5 xref: SNOMED CT:253170008 xref: UMLS:C0431391 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:166478 ! Cerebral malformation with epilepsy relationship: part_of Orphanet:199633 ! Cerebral malformation property_value: alternative:term "Unilateral megalencephaly" xsd:string [Term] id: Orphanet:99803 name: Haddad syndrome xref: ICD10:G47.3 xref: ICD10:Q43.1 xref: OMIM:209880 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108937 ! multigenic / multifactorial relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:108969 ! Syndromic intestinal malformation relationship: part_of Orphanet:71859 ! Rare genetic neurological disease relationship: part_of Orphanet:98006 ! Rare neurologic disease property_value: alternative:term "Congenital central alveolar hypoventilation - Hirschsprung disease" xsd:string property_value: alternative:term "Ondine-Hirschsprung disease" xsd:string property_value: alternative:term "Ondine-Hirschsprung syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms)." xsd:string [Term] id: Orphanet:99806 name: Oculootodental syndrome xref: ICD10:K00.2 xref: OMIM:166750 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:139042 ! Malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:183580 ! Genetic malformation syndrome with odontal and/or periodontal component relationship: part_of Orphanet:262092 ! Partial deletion of the long arm of chromosome 11 property_value: alternative:term "OOD" xsd:string [Term] id: Orphanet:99807 name: PEHO-like syndrome xref: OMIM:260565 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:166463 ! Epileptic syndrome relationship: part_of Orphanet:89832 ! Syndromic lymphedema [Term] id: Orphanet:99810 name: Familial porencephaly xref: ICD10:Q04.6 xref: MESH:C536850 xref: OMIM:175780 xref: OMIM:614483 xref: UMLS:C1867983 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2940 ! Porencephaly [Term] id: Orphanet:99811 name: Neuronal intestinal pseudoobstruction xref: ICD10:K59.8 xref: MESH:C537394 xref: UMLS:C1855733 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:2978 ! Chronic intestinal pseudo-obstruction property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Neuronal intestinal pseudoobstruction is a form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction." xsd:string [Term] id: Orphanet:99812 name: LIG4 syndrome xref: ICD10:D81.1 xref: OMIM:606593 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:101972 ! Combined T and B cell immunodeficiency relationship: part_of Orphanet:183422 ! Polymalformative genetic syndrome with increased risk of developing cancer relationship: part_of Orphanet:330206 ! Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit property_value: alternative:term "DNA ligase IV deficiency" xsd:string property_value: alternative:term "Ligase 4 syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID)." xsd:string [Term] id: Orphanet:99817 name: Non-polyposis Turcot syndrome xref: ICD10:C18 xref: OMIM:276300 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:144 ! Hereditary nonpolyposis colon cancer relationship: part_of Orphanet:252190 ! Inherited nervous system cancer-predisposing syndrome [Term] id: Orphanet:99818 name: Turcot syndrome with polyposis xref: ICD10:D12.6 xref: OMIM:175100 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:252190 ! Inherited nervous system cancer-predisposing syndrome relationship: part_of Orphanet:733 ! Familial adenomatous polyposis [Term] id: Orphanet:99819 name: Familial gestational hyperthyroidism xref: ICD10:E05.8 xref: OMIM:603373 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:156629 ! Genetic hypertension relationship: part_of Orphanet:163637 ! Rare disorder related with pregnancy, childbirth and puerperium relationship: part_of Orphanet:181399 ! Rare hyperthyroidism [Term] id: Orphanet:99824 name: Lassa fever xref: ICD10:A96.2 xref: MEDDRA:10023927 xref: MESH:D007835 xref: SNOMED CT:19065005 xref: UMLS:C0023092 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:341 ! Viral hemorrhagic fever property_value: alternative:term "Lassa hemorrhagic fever" xsd:string property_value: alternative:term "LF" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Lassa fever (LF) is a potentially severe viral hemorrhagic disease caused by Lassa virus and characterized by initial fever and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock and multi-organ system failure." xsd:string [Term] id: Orphanet:99825 name: Nipah virus disease xref: ICD10:A98.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:98252 ! Infectious encephalitis property_value: alternative:term "Nipah encephalitis" xsd:string property_value: alternative:term "Nipah fever" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness." xsd:string [Term] id: Orphanet:99826 name: Marburg hemorrhagic fever xref: ICD10:A98.3 xref: MEDDRA:10026822 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:341 ! Viral hemorrhagic fever property_value: alternative:term "Green monkey disease" xsd:string property_value: alternative:term "Marburg virus disease" xsd:string property_value: alternative:term "MHF" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure." xsd:string [Term] id: Orphanet:99827 name: Crimean-Congo hemorrhagic fever xref: ICD10:A98.0 xref: SNOMED CT:43489008 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:341 ! Viral hemorrhagic fever property_value: alternative:term "CCHF" xsd:string property_value: alternative:term "Congo fever" xsd:string property_value: alternative:term "Congo hemorrhagic fever" xsd:string property_value: alternative:term "Crimean hemorrhagic fever" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure." xsd:string [Term] id: Orphanet:99828 name: Dengue fever xref: ICD10:A90 xref: MESH:D003715 xref: OMIM:614371 xref: SNOMED CT:38362002 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:344 ! Arbovirus fever property_value: alternative:term "Dengue hemorrhagic fever" xsd:string property_value: alternative:term "Dengue shock syndrome" xsd:string property_value: alternative:term "Dengue virus infection" xsd:string property_value: alternative:term "DF" xsd:string property_value: alternative:term "DHF" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS)." xsd:string [Term] id: Orphanet:99829 name: Yellow fever xref: ICD10:A95 xref: MEDDRA:10048240 xref: MESH:D015004 xref: SNOMED CT:16541001 xref: UMLS:C0043395 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:344 ! Arbovirus fever property_value: alternative:term "Bronze John" xsd:string property_value: alternative:term "Yellow Jack" xsd:string property_value: alternative:term "YF" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure." xsd:string [Term] id: Orphanet:99832 name: Resistance to thyrotropin-releasing hormone syndrome xref: ICD10:E03.1 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:226298 ! Central congenital hypothyroidism property_value: alternative:term "Central hypothyroidism due to TRH receptor deficiency" xsd:string property_value: alternative:term "THR resistance syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth." xsd:string [Term] id: Orphanet:99842 name: Leukocyte adhesion deficiency type I xref: ICD10:D84.8 xref: MESH:C535887 xref: OMIM:116920 xref: SNOMED CT:234582006 xref: UMLS:C0398738 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:2968 ! Leukocyte adhesion deficiency property_value: alternative:term "LAD-I" xsd:string [Term] id: Orphanet:99843 name: Leukocyte adhesion deficiency type II xref: ICD10:D84.8 xref: OMIM:266265 xref: SNOMED CT:234583001 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2968 ! Leukocyte adhesion deficiency relationship: part_of Orphanet:309526 ! Disorder of multiple glycosylation relationship: part_of Orphanet:371064 ! Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature relationship: part_of Orphanet:371071 ! Congenital disorder of glycosylation with epilepsy as a major feature property_value: alternative:term "CDG syndrome type IIc" xsd:string property_value: alternative:term "CDG-IIc" xsd:string property_value: alternative:term "CDG2C" xsd:string property_value: alternative:term "LAD-II" xsd:string property_value: alternative:term "Rambam-Hasharon syndrome" xsd:string property_value: alternative:term "SLC35C1-CDG" xsd:string [Term] id: Orphanet:99844 name: Leukocyte adhesion deficiency type III xref: ICD10:D84.8 xref: OMIM:612840 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:2781 ! Osteopetrosis relationship: part_of Orphanet:2968 ! Leukocyte adhesion deficiency property_value: alternative:term "LAD-1 variant" xsd:string property_value: alternative:term "LAD-III" xsd:string property_value: alternative:term "Leukocyte adhesion deficiency-1 variant" xsd:string [Term] id: Orphanet:99845 name: Genetic recurrent myoglobinuria xref: ICD10:R82.1 xref: OMIM:268200 xref: OMIM:550500 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:206953 ! Muscular lipidosis relationship: part_of Orphanet:352312 ! Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement relationship: part_of Orphanet:91088 ! Other metabolic disease property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers." xsd:string [Term] id: Orphanet:99846 name: Autosomal dominant myoglobinuria xref: ICD10:R82.1 xref: OMIM:160010 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:206953 ! Muscular lipidosis relationship: part_of Orphanet:91088 ! Other metabolic disease [Term] id: Orphanet:99849 name: Glycogen storage disease due to muscle beta-enolase deficiency xref: ICD10:E74.0 xref: OMIM:612932 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:206959 ! Muscular glycogenosis relationship: part_of Orphanet:79201 ! Glycogen storage disease property_value: alternative:term "Glycogenosis due to muscle beta-enolase deficiency" xsd:string property_value: alternative:term "Glycogenosis type 13" xsd:string property_value: alternative:term "GSD due to muscle beta-enolase deficiency" xsd:string property_value: alternative:term "GSDXIII" xsd:string property_value: alternative:term "Muscle enolase deficiency" xsd:string property_value: alternative:term "Muscular enolase deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle." xsd:string [Term] id: Orphanet:99852 name: RAVINE syndrome xref: ICD10:E75.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: part_of Orphanet:68356 ! Leukodystrophy property_value: alternative:term "Reunion island - anorexia - vomiting which is irrepressible - neurological signs" xsd:string [Term] id: Orphanet:99853 name: Ovarioleukodystrophy xref: ICD10:E75.2 xref: OMIM:603896 is_a: Orphanet:157719 ! Juvenile or adult CACH syndrome [Term] id: Orphanet:99854 name: Cree leukoencephalopathy xref: ICD10:E75.2 xref: OMIM:603896 is_a: Orphanet:157713 ! Congenital or early infantile CACH syndrome [Term] id: Orphanet:99856 name: Primary syringomyelia xref: ICD10:G95.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:268871 ! Primary syringomyelia/hydromyelia relationship: part_of Orphanet:3280 ! Syringomyelia [Term] id: Orphanet:99857 name: Secondary syringomyelia xref: ICD10:G95.0 is_a: Orphanet:3280 ! Syringomyelia [Term] id: Orphanet:99858 name: Idiopathic syringomyelia xref: ICD10:G95.0 is_a: Orphanet:3280 ! Syringomyelia [Term] id: Orphanet:99859 name: Posttraumatic syringomyelia xref: ICD10:G95.0 xref: SNOMED CT:372477008 xref: UMLS:C1299005 is_a: Orphanet:3280 ! Syringomyelia [Term] id: Orphanet:99860 name: Precursor B-cell acute lymphoblastic leukemia xref: ICD10:C91.0 xref: OMIM:615545 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:300846 ! Aggressive B-cell non-Hodgkin lymphoma relationship: part_of Orphanet:513 ! Acute lymphoblastic leukemia property_value: alternative:term "B-ALL" xsd:string property_value: alternative:term "Precursor B-cell acute lymphoblastic leukemia/lymphoma" xsd:string property_value: alternative:term "Precursor B-cell acute lymphocytic leukemia" xsd:string property_value: alternative:term "Precursor B-cell acute lymphocytic leukemia/lymphoma" xsd:string [Term] id: Orphanet:99861 name: Precursor T-cell acute lymphoblastic leukemia xref: ICD10:C91.0 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:513 ! Acute lymphoblastic leukemia property_value: alternative:term "Precursor T-cell acute lymphoblastic leukemia/lymphoma" xsd:string property_value: alternative:term "Precursor T-cell acute lymphocytic leukemia" xsd:string property_value: alternative:term "Precursor T-cell acute lymphocytic leukemia/lymphoma" xsd:string property_value: alternative:term "T-ALL" xsd:string [Term] id: Orphanet:99865 name: Spermatocytic seminoma xref: ICD10:C62 xref: OMIM:273300 xref: SNOMED CT:9294008 xref: UMLS:C0334517 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:363472 ! Testicular and paratesticular tumor [Term] id: Orphanet:99867 name: Thymoma xref: ICD10:C37 xref: ICD10:D15.0 xref: MEDDRA:10043670 xref: MESH:D013945 xref: OMIM:274230 xref: SNOMED CT:128856005 xref: SNOMED CT:444231005 xref: UMLS:C0040100 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:3398 ! Thymic epithelial neoplasm property_value: alternative:term "Primary thymic epithelial neoplasm" xsd:string property_value: alternative:term "Primary thymic epithelial tumor" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Thymoma is a thymic epithelial neoplasm (TEN; see this term), a rare malignancy that arises from the epithelium of the thymic gland." xsd:string [Term] id: Orphanet:99868 name: Thymic carcinoma xref: ICD10:C37 xref: MEDDRA:10061031 xref: SNOMED CT:128717008 xref: SNOMED CT:15949004 xref: SNOMED CT:444374006 xref: SNOMED CT:444596001 xref: UMLS:C0205969 xref: UMLS:C1322286 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:3398 ! Thymic epithelial neoplasm property_value: alternative:term "Malignant thymoma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Thymic carcinoma (TC) is a type of thymic epithelial neoplasm (see this term) characterized by a high malignant potential." xsd:string [Term] id: Orphanet:99869 name: Thymic neuroendocrine carcinoma xref: ICD10:C37 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:3398 ! Thymic epithelial neoplasm property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm (see this term) displaying evidence of neuroendocrine differentiation." xsd:string [Term] id: Orphanet:99870 name: Letterer-Siwe disease xref: ICD10:C96.0 xref: MEDDRA:10024265 xref: MESH:C538636 xref: OMIM:246400 xref: SNOMED CT:118614007 xref: SNOMED CT:128812005 xref: UMLS:C0023381 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:264724 ! Langerhans cell histiocytosis specific to childhood relationship: part_of Orphanet:389 ! Langerhans cell histiocytosis property_value: alternative:term "Acute and disseminated Langerhans cell histiocytosis" xsd:string [Term] id: Orphanet:99871 name: Eosinophilic granuloma xref: ICD10:C96.6 xref: MEDDRA:10014956 xref: MESH:D004803 xref: SNOMED CT:129000002 xref: UMLS:C0014461 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:264955 ! Langerhans cell histiocytosis in childhood and adulthood relationship: part_of Orphanet:389 ! Langerhans cell histiocytosis property_value: alternative:term "Chronic and localized Langerhans cell histiocytosis" xsd:string [Term] id: Orphanet:99872 name: Hashimoto-Pritzker syndrome xref: ICD10:C96.5 xref: MESH:C535843 xref: SNOMED CT:404160007 xref: UMLS:C1275336 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:264724 ! Langerhans cell histiocytosis specific to childhood relationship: part_of Orphanet:389 ! Langerhans cell histiocytosis property_value: alternative:term "Congenital Langerhans cell histiocytosis" xsd:string [Term] id: Orphanet:99873 name: Hand-Schüller-Christian disease xref: ICD10:C96.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:264955 ! Langerhans cell histiocytosis in childhood and adulthood relationship: part_of Orphanet:389 ! Langerhans cell histiocytosis property_value: alternative:term "Chronic and multifocal Langerhans cell histiocytosis" xsd:string property_value: alternative:term "Multifocal eosinophilic granuloma" xsd:string [Term] id: Orphanet:99874 name: Adult pulmonary Langerhans cell histiocytosis xref: ICD10:C96.5 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:264750 ! Langerhans cell histiocytosis specific to adulthood relationship: part_of Orphanet:389 ! Langerhans cell histiocytosis property_value: alternative:term "Pulmonary histiocytosis X" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Adult pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare histiocytic lung disease characterized by the accumulation of Langerhans and other inflammatory cells in the small airways, resulting in the formation of nodular inflammatory lesions." xsd:string [Term] id: Orphanet:99875 name: Ehlers-Danlos syndrome type 7A xref: ICD10:Q79.6 xref: OMIM:130060 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:1899 ! Ehlers-Danlos syndrome, arthrochalasic type property_value: alternative:term "EDS VIIA" xsd:string [Term] id: Orphanet:99876 name: Ehlers-Danlos syndrome type 7B xref: ICD10:Q79.6 xref: OMIM:130060 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:1899 ! Ehlers-Danlos syndrome, arthrochalasic type property_value: alternative:term "EDS VIIB" xsd:string [Term] id: Orphanet:99877 name: Familial parathyroid adenoma xref: ICD10:E21.0 xref: OMIM:145000 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:100090 ! Rare parathyroid tumor relationship: part_of Orphanet:183634 ! Rare genetic parathyroid disease and phosphocalcic metabolism disorder relationship: part_of Orphanet:2207 ! Familial primary hyperparathyroidism relationship: part_of Orphanet:271847 ! Genetic endocrine tumor [Term] id: Orphanet:99878 name: Primary parathyroids hyperplasia xref: ICD10:E21.0 xref: OMIM:600166 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:2207 ! Familial primary hyperparathyroidism property_value: alternative:term "Familial parathyroids hyperplasia" xsd:string property_value: alternative:term "Hereditary parathyroids hyperplasia" xsd:string [Term] id: Orphanet:99879 name: Familial isolated hyperparathyroidism xref: ICD10:E21.0 xref: OMIM:145000 xref: OMIM:610071 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:2207 ! Familial primary hyperparathyroidism property_value: alternative:term "FIHPT" xsd:string [Term] id: Orphanet:99880 name: Hyperparathyroidism - jaw tumor syndrome xref: ICD10:E21.0 xref: OMIM:145001 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:2207 ! Familial primary hyperparathyroidism relationship: part_of Orphanet:319328 ! Inherited renal cell cancer-predisposing syndrome property_value: alternative:term "HPT-JT" xsd:string [Term] id: Orphanet:99885 name: Permanent neonatal diabetes mellitus xref: ICD10:P70.2 xref: OMIM:606176 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108927 ! 1-9 / 1 000 000 relationship: part_of Orphanet:224 ! Neonatal diabetes mellitus property_value: alternative:term "PNDM" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Permanent neonatal diabetes mellitus (PNDM) is a non-syndromic monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first six months of life, requiring continuous insulin treatment." xsd:string [Term] id: Orphanet:99886 name: Transient neonatal diabetes mellitus xref: ICD10:P70.2 xref: OMIM:601410 xref: OMIM:610374 xref: OMIM:610582 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:224 ! Neonatal diabetes mellitus property_value: alternative:term "TNDM" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in some patients." xsd:string [Term] id: Orphanet:99887 name: Acute megakaryoblastic leukemia in Down syndrome xref: ICD10:C94.2 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:518 ! Acute megakaryoblastic leukemia property_value: alternative:term "DS-AMKL" xsd:string [Term] id: Orphanet:99889 name: Cushing syndrome due to ectopic ACTH secretion xref: ICD10:E24.3 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:99892 ! ACTH-dependent Cushing syndrome property_value: alternative:term "Adrenocorticotropic hormone secretion syndrome" xsd:string property_value: alternative:term "Ectopic ACTH secreting tumor" xsd:string property_value: alternative:term "Ectopic Cushing syndrome" xsd:string property_value: alternative:term "Occult ectopic ACTH secretion" xsd:string property_value: alternative:term "Paraneoplastic Cushing syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome (see this term) caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor." xsd:string [Term] id: Orphanet:99892 name: ACTH-dependent Cushing syndrome xref: ICD10:E24.0 xref: SNOMED CT:237734007 xref: UMLS:C0342442 is_a: Orphanet:553 ! Cushing syndrome property_value: alternative:term "ACTH-dependent CS" xsd:string property_value: alternative:term "Adrenocorticotropic hormone-dependent Cushing syndrome" xsd:string property_value: alternative:term "Corticotropin-dependent Cushing syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS (see this term) caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS; see these terms) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH)." xsd:string [Term] id: Orphanet:99893 name: ACTH-independent Cushing syndrome xref: ICD10:E24.8 is_a: Orphanet:553 ! Cushing syndrome property_value: alternative:term "Adrenal Cushing syndrome" xsd:string property_value: alternative:term "Adrenocorticotropic hormone-independent Cushing syndrome" xsd:string property_value: alternative:term "Corticotropin-independent Cushing syndrome" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS; see this term) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC; see these terms)." xsd:string [Term] id: Orphanet:99898 name: Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency xref: ICD10:D84.8 xref: MESH:C535530 xref: UMLS:C2930924 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:319535 ! Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency property_value: alternative:term "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency" xsd:string property_value: alternative:term "MSMD due to complete IFNgammaR1 deficiency" xsd:string property_value: alternative:term "MSMD due to complete interferon gamma receptor 1 deficiency" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD (see this term) characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM)." xsd:string [Term] id: Orphanet:999 name: Ermine phenotype xref: ICD10:E70.3 xref: MESH:C535508 xref: OMIM:227010 xref: UMLS:C1856899 is_a: Orphanet:377789 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! malformation syndrome relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:90642 ! Syndromic genetic deafness property_value: alternative:term "O'Doherty syndrome" xsd:string property_value: alternative:term "Pigmentary disorder with hearing loss" xsd:string [Term] id: Orphanet:99900 name: Long chain acyl-CoA dehydrogenase deficiency xref: ICD10:E71.3 xref: MESH:C535690 xref: SNOMED CT:237996001 xref: UMLS:C0220711 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:217591 ! Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy relationship: part_of Orphanet:309133 ! Metabolic disease due to other fatty acid oxidation disorder property_value: alternative:term "LCAD" xsd:string [Term] id: Orphanet:99901 name: Acyl-CoA dehydrogenase 9 deficiency xref: ICD10:E71.3 xref: OMIM:611126 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: part_of Orphanet:217591 ! Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy relationship: part_of Orphanet:217616 ! Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy relationship: part_of Orphanet:254843 ! Exercise intolerance with lactic acidosis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " gene on chromosome 3 q21.3 that encodes the enzyme ACAD9. This enzyme has only recently been discovered and is found mainly in the brain leading to various neurological manifestations, has overlapping substrate specificity with the very long-chain acyl-CoA dehydrogenase deficiency (VLCADD; see this term) enzyme and is thought to play a role in oxidative phosphorylation. 16 cases described to date." xsd:string [Term] id: Orphanet:99903 name: Spirillary rat-bite fever xref: ICD10:A25.0 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:31205 ! Rat-bite fever property_value: alternative:term "Sodoku" xsd:string [Term] id: Orphanet:99905 name: Streptobacillary rat-bite fever xref: ICD10:A25.1 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:31205 ! Rat-bite fever [Term] id: Orphanet:99906 name: Farmer's lung disease xref: ICD10:J67.0 xref: MEDDRA:10016221 xref: MESH:D005203 xref: SNOMED CT:18690003 xref: UMLS:C0015634 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:99909 ! Occupational allergic alveolitis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Farmer's lung disease is the main form of occupational hypersensitivity pneumonitis (see this term), caused by chronic inhalation of microorganisms, often thermophilic actinomycetes and less commonly Saccharopolyspora rectivirgula, living in mouldy hay, straw, or grain. It is characterized by variable degrees of dyspnea, cough, tiredness, headaches and occasional fever/night sweats, with acute, sub-acute or chronic clinical course" xsd:string [Term] id: Orphanet:99907 name: House allergic alveolitis xref: ICD10:J67.8 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:31740 ! Hypersensitivity pneumonitis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "House allergic alveolitis is a hypersensitivity pneumonitis (see this term) resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier lung, hot tub lung, air conditioner disease." xsd:string [Term] id: Orphanet:99908 name: Pigeon-breeder lung disease xref: ICD10:J67.2 xref: MESH:D001716 xref: OMIM:145300 xref: SNOMED CT:85407005 xref: UMLS:C0031903 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:99909 ! Occupational allergic alveolitis property_value: alternative:term "Bird fancier lung" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pigeon-breeder's lung disease, also called bird fancier’s lung, is a hypersensitivity pneumonitis (see this term) induced by inhalation of bird derived-proteins. Presentation can be acute with chills, cough, fever, shortness of breath, chest tightness usually resolving within 24 h after cessation of antigen exposure, sub-acute with cough and dyspnea over several days to weeks, whereas chronic form results in breathlessness, coughing, lack of appetite and weight loss." xsd:string [Term] id: Orphanet:99909 name: Occupational allergic alveolitis is_a: Orphanet:31740 ! Hypersensitivity pneumonitis property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Occupational allergic alveolitis designates a hypersensitivity pneumonitis (see this term) resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite, general malaise" xsd:string [Term] id: Orphanet:99912 name: Malignant dysgerminomatous germ cell tumor xref: ICD10:C56 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:182127 ! Extragonadal germinoma relationship: part_of Orphanet:35807 ! Ovarian germ cell malignant tumor property_value: alternative:term "Dysgerminomatous germ cell cancer" xsd:string [Term] id: Orphanet:99913 name: Extragonadal non-dysgerminomatous germ cell tumor is_a: Orphanet:363579 ! Extragonadal germ cell tumor [Term] id: Orphanet:99914 name: Gynandroblastoma xref: ICD10:C56 xref: SNOMED CT:26735007 xref: UMLS:C0018413 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:35808 ! Ovarian malignant tumor of sex cord-stromal origin [Term] id: Orphanet:99915 name: Granulosa cell malignant tumor xref: ICD10:C56 xref: MESH:D006106 xref: SNOMED CT:18861007 xref: UMLS:C0334401 xref: UMLS:C1567257 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:35808 ! Ovarian malignant tumor of sex cord-stromal origin property_value: alternative:term "Granulosa cell cancer" xsd:string [Term] id: Orphanet:99916 name: Ovarian malignant Sertoli-Leydig cell tumor xref: ICD10:C56 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:35808 ! Ovarian malignant tumor of sex cord-stromal origin property_value: alternative:term "Androblastoma" xsd:string property_value: alternative:term "Arrhenoblastoma" xsd:string property_value: alternative:term "Ovarian Sertoli-Leydig cell cancer" xsd:string property_value: alternative:term "Virilizing ovarian tumor" xsd:string [Term] id: Orphanet:99917 name: Theca steroid-producing cell malignant tumor, not further specified xref: ICD10:C56 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:35808 ! Ovarian malignant tumor of sex cord-stromal origin property_value: alternative:term "Theca (steroid-producing) cell cancer, not further specified" xsd:string [Term] id: Orphanet:99918 name: Streptococcal toxic-shock syndrome xref: ICD10:A48.3 xref: MEDDRA:10044251 xref: SNOMED CT:240451000 xref: UMLS:C0343532 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:36234 ! Bacterial toxic-shock syndrome property_value: alternative:term "Streptococcal TSS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " infection." xsd:string [Term] id: Orphanet:99919 name: Staphylococcal toxic-shock syndrome xref: ICD10:A48.3 xref: MEDDRA:10044250 xref: SNOMED CT:240450004 is_a: Orphanet:377795 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! etiological subtype relationship: part_of Orphanet:300579 ! Staphylococcal toxemia relationship: part_of Orphanet:36234 ! Bacterial toxic-shock syndrome property_value: alternative:term "Staphylococcal TSS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition " bacterial infection, often associated with tampon use." xsd:string [Term] id: Orphanet:99920 name: Acute graft versus host disease xref: ICD10:T86.0 xref: MEDDRA:10066260 xref: SNOMED CT:402355000 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:39812 ! Graft versus host disease [Term] id: Orphanet:99921 name: Chronic graft versus host disease xref: ICD10:T86.0 xref: MEDDRA:10066261 xref: MESH:D006086 xref: SNOMED CT:402356004 xref: UMLS:C0867389 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:39812 ! Graft versus host disease [Term] id: Orphanet:99922 name: Ocular pemphigoid xref: ICD10:H13.3* xref: ICD10:L12+ xref: MEDDRA:10067776 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:182214 ! Rare inflammatory eye disease [Term] id: Orphanet:99925 name: Invasive mole xref: ICD10:D39.2 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:59305 ! Gestational trophoblastic neoplasm [Term] id: Orphanet:99926 name: Gestational choriocarcinoma xref: ICD10:C58 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:59305 ! Gestational trophoblastic neoplasm relationship: part_of Orphanet:99913 ! Extragonadal non-dysgerminomatous germ cell tumor [Term] id: Orphanet:99927 name: Hydatidiform mole xref: ICD10:O01 xref: MEDDRA:10020481 xref: MESH:D006828 xref: OMIM:231090 xref: OMIM:614293 xref: SNOMED CT:48430004 xref: UMLS:C0020217 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:254685 ! Gestational trophoblastic disease property_value: alternative:term "Molar pregnancy" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "A hydatidiform mole is a benign gestational trophoblastic disease developing during pregnancy. Resulting from an abnormal fertilization characterized by trophoblastic proliferation, normal embryo development is rendered impossible. Hydatidiform moles can be either complete or partial." xsd:string [Term] id: Orphanet:99928 name: Placental site trophoblastic tumor xref: ICD10:D39.2 xref: MESH:D018245 xref: SNOMED CT:237252008 xref: SNOMED CT:75320001 xref: UMLS:C0206666 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:59305 ! Gestational trophoblastic neoplasm property_value: alternative:term "PSST" xsd:string [Term] id: Orphanet:99930 name: Secondary pulmonary hemosiderosis xref: ICD10:E83.1+ xref: ICD10:J99.8* is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: part_of Orphanet:264944 ! Secondary interstitial lung disease in childhood and adulthood property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome (see this term), autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography" xsd:string [Term] id: Orphanet:99931 name: Idiopathic pulmonary hemosiderosis xref: ICD10:E83.1+ xref: ICD10:J99.8* xref: MESH:C536281 xref: OMIM:178550 xref: OMIM:235500 xref: SNOMED CT:40527005 xref: UMLS:C0020807 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:264762 ! Primary interstitial lung disease in childhood and adulthood property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients." xsd:string [Term] id: Orphanet:99932 name: Heiner syndrome xref: ICD10:E83.1+ xref: ICD10:J99.8* is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:99930 ! Secondary pulmonary hemosiderosis property_value: alternative:term "Cow's milk hypersensitivity" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Heiner syndrome, also called cow’s milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis (see this term), digestive bleeding, anemia and poor growing, improving with milk elimination." xsd:string [Term] id: Orphanet:99933 name: Pleuropulmonary blastoma type 1 xref: ICD10:C34 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:64742 ! Pleuropulmonary blastoma [Term] id: Orphanet:99934 name: Pleuropulmonary blastoma type 2 xref: ICD10:C34 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:64742 ! Pleuropulmonary blastoma [Term] id: Orphanet:99935 name: Pleuropulmonary blastoma type 3 xref: ICD10:C34 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:64742 ! Pleuropulmonary blastoma [Term] id: Orphanet:99936 name: Autosomal dominant Charcot-Marie-Tooth disease type 2B xref: ICD10:G60.0 xref: OMIM:600882 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: part_of Orphanet:64746 ! Autosomal dominant Charcot-Marie-Tooth disease type 2 property_value: alternative:term "CMT2B" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood." xsd:string [Term] id: Orphanet:99937 name: Autosomal dominant Charcot-Marie-Tooth disease type 2C xref: ICD10:G60.0 xref: OMIM:606071 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: part_of Orphanet:64746 ! Autosomal dominant Charcot-Marie-Tooth disease type 2 property_value: alternative:term "CMT2C" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord naomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade." xsd:string [Term] id: Orphanet:99938 name: Autosomal dominant Charcot-Marie-Tooth disease type 2D xref: ICD10:G60.0 xref: OMIM:601472 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: part_of Orphanet:64746 ! Autosomal dominant Charcot-Marie-Tooth disease type 2 property_value: alternative:term "CMT2D" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow." xsd:string [Term] id: Orphanet:99939 name: Autosomal dominant Charcot-Marie-Tooth disease type 2E xref: ICD10:G60.0 xref: OMIM:607684 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:64746 ! Autosomal dominant Charcot-Marie-Tooth disease type 2 property_value: alternative:term "CMT2E" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor." xsd:string [Term] id: Orphanet:99940 name: Autosomal dominant Charcot-Marie-Tooth disease type 2F xref: ICD10:G60.0 xref: OMIM:606595 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:64746 ! Autosomal dominant Charcot-Marie-Tooth disease type 2 property_value: alternative:term "CMT2F" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop." xsd:string [Term] id: Orphanet:99941 name: Autosomal dominant Charcot-Marie-Tooth disease type 2G xref: ICD10:G60.0 xref: OMIM:608591 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108945 ! Variable relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:64746 ! Autosomal dominant Charcot-Marie-Tooth disease type 2 property_value: alternative:term "CMT2G" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course." xsd:string [Term] id: Orphanet:99942 name: Autosomal dominant Charcot-Marie-Tooth disease type 2I xref: ICD10:G60.0 xref: OMIM:607677 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:64746 ! Autosomal dominant Charcot-Marie-Tooth disease type 2 property_value: alternative:term "CMT2I" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes." xsd:string [Term] id: Orphanet:99943 name: Autosomal dominant Charcot-Marie-Tooth disease type 2J xref: ICD10:G60.0 xref: OMIM:607736 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: part_of Orphanet:64746 ! Autosomal dominant Charcot-Marie-Tooth disease type 2 property_value: alternative:term "CMT2J" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, papillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy." xsd:string [Term] id: Orphanet:99944 name: Autosomal dominant Charcot-Marie-Tooth disease type 2K xref: ICD10:G60.0 xref: OMIM:607831 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108943 ! Adolescence / Young adulthood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:64746 ! Autosomal dominant Charcot-Marie-Tooth disease type 2 property_value: alternative:term "CMT2K" xsd:string [Term] id: Orphanet:99945 name: Autosomal dominant Charcot-Marie-Tooth disease type 2L xref: ICD10:G60.0 xref: OMIM:608673 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:64746 ! Autosomal dominant Charcot-Marie-Tooth disease type 2 property_value: alternative:term "CMT2L" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow." xsd:string [Term] id: Orphanet:99946 name: Autosomal dominant Charcot-Marie-Tooth disease type 2A1 xref: ICD10:G60.0 xref: OMIM:118210 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:64746 ! Autosomal dominant Charcot-Marie-Tooth disease type 2 property_value: alternative:term "CMT2A1" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor." xsd:string [Term] id: Orphanet:99947 name: Autosomal dominant Charcot-Marie-Tooth disease type 2A2 xref: ICD10:G60.0 xref: OMIM:609260 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108932 ! autosomal dominant relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: part_of Orphanet:64746 ! Autosomal dominant Charcot-Marie-Tooth disease type 2 property_value: alternative:term "CMT2A2" xsd:string [Term] id: Orphanet:99948 name: Charcot-Marie-Tooth disease type 4A xref: ICD10:G60.0 xref: MESH:C535419 xref: OMIM:214400 xref: UMLS:C1859198 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:64749 ! Charcot-Marie-Tooth disease type 4 property_value: alternative:term "CMT4A" xsd:string [Term] id: Orphanet:99949 name: Charcot-Marie-Tooth disease type 4C xref: ICD10:G60.0 xref: MESH:C535423 xref: OMIM:601596 xref: UMLS:C1866636 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:64749 ! Charcot-Marie-Tooth disease type 4 property_value: alternative:term "CMT4C" xsd:string [Term] id: Orphanet:99950 name: Charcot-Marie-Tooth disease type 4D xref: ICD10:G60.0 xref: MESH:C535716 xref: OMIM:601455 xref: UMLS:C1832334 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:64749 ! Charcot-Marie-Tooth disease type 4 property_value: alternative:term "CMT4D" xsd:string property_value: alternative:term "Hereditary motor and sensory neuropathy, Lom type" xsd:string property_value: alternative:term "HMSN, Lom type" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "), mapped to chromosome 8q24 and almost exclusively reported in Bulgarian Romani community of Lom on the Danube." xsd:string [Term] id: Orphanet:99951 name: Charcot-Marie-Tooth disease type 4E xref: ICD10:G60.0 xref: OMIM:605253 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: part_of Orphanet:64749 ! Charcot-Marie-Tooth disease type 4 property_value: alternative:term "Autosomal recessive congenital hypomyelinating neuropathy" xsd:string property_value: alternative:term "CMT4E" xsd:string [Term] id: Orphanet:99952 name: Charcot-Marie-Tooth disease type 4F xref: ICD10:G60.0 xref: OMIM:614895 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:64749 ! Charcot-Marie-Tooth disease type 4 property_value: alternative:term "CMT4F" xsd:string [Term] id: Orphanet:99953 name: Charcot-Marie-Tooth disease type 4G xref: ICD10:G60.0 xref: OMIM:605285 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:64749 ! Charcot-Marie-Tooth disease type 4 property_value: alternative:term "CMT4G" xsd:string property_value: alternative:term "Hereditary motor and sensory neuropathy, Russe Type" xsd:string property_value: alternative:term "HMSNR" xsd:string [Term] id: Orphanet:99954 name: Charcot-Marie-Tooth disease type 4H xref: ICD10:G60.0 xref: OMIM:609311 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:64749 ! Charcot-Marie-Tooth disease type 4 property_value: alternative:term "CMT4H" xsd:string [Term] id: Orphanet:99955 name: Charcot-Marie-Tooth disease type 4B1 xref: ICD10:G60.0 xref: MESH:C535420 xref: OMIM:601382 xref: UMLS:C1832399 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108928 ! 1 / 1 000 000 relationship: part_of Orphanet:64749 ! Charcot-Marie-Tooth disease type 4 property_value: alternative:term "CMT4B1" xsd:string [Term] id: Orphanet:99956 name: Charcot-Marie-Tooth disease type 4B2 xref: ICD10:G60.0 xref: MESH:C535421 xref: OMIM:604563 xref: UMLS:C1858278 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! disease relationship: Orphanet:C016 Orphanet:108933 ! autosomal recessive relationship: Orphanet:C017 Orphanet:108942 ! Childhood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:64749 ! Charcot-Marie-Tooth disease type 4 property_value: alternative:term "CMT4B2" xsd:string [Term] id: Orphanet:99960 name: Benign recurrent intrahepatic cholestasis type 1 xref: ICD10:K83.1 xref: OMIM:243300 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:65682 ! Benign recurrent intrahepatic cholestasis property_value: alternative:term "BRIC type 1" xsd:string property_value: alternative:term "BRIC1" xsd:string [Term] id: Orphanet:99961 name: Benign recurrent intrahepatic cholestasis type 2 xref: ICD10:K83.1 xref: OMIM:605479 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: part_of Orphanet:65682 ! Benign recurrent intrahepatic cholestasis property_value: alternative:term "BRIC type 2" xsd:string property_value: alternative:term "BRIC2" xsd:string [Term] id: Orphanet:99965 name: O'Sullivan-McLeod syndrome xref: ICD10:G12.8 xref: MEDDRA:10069682 xref: UMLS:C2721741 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:65684 ! Monomelic amyotrophy property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "O' Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA; see this term), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period." xsd:string [Term] id: Orphanet:99966 name: Atypical teratoid tumor xref: OMIM:609322 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:69077 ! Rhabdoid tumor [Term] id: Orphanet:99967 name: Myxoid/round cell liposarcoma xref: ICD10:C49 xref: MESH:D018208 xref: OMIM:613488 xref: SNOMED CT:27849002 xref: SNOMED CT:404069006 xref: UMLS:C0206634 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:69078 ! Liposarcoma property_value: alternative:term "MRCLS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS; see this term) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS." xsd:string [Term] id: Orphanet:99969 name: Pleomorphic liposarcoma xref: ICD10:C49 xref: SNOMED CT:112683004 xref: SNOMED CT:404071006 xref: UMLS:C0205825 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:69078 ! Liposarcoma property_value: alternative:term "PLS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS; see this term), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma (see these terms)." xsd:string [Term] id: Orphanet:99970 name: Dedifferentiated liposarcoma xref: ICD10:C49 xref: SNOMED CT:404072004 xref: SNOMED CT:67280001 xref: UMLS:C0205824 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:69078 ! Liposarcoma property_value: alternative:term "DDLS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS; see this term) that progresses from well-differentiated liposarcoma (WDLS; see this term), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. ." xsd:string [Term] id: Orphanet:99971 name: Well-differentiated liposarcoma xref: ICD10:C49 xref: SNOMED CT:28655007 xref: UMLS:C1370889 is_a: Orphanet:377797 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! histopathological subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108929 ! Unknown relationship: part_of Orphanet:69078 ! Liposarcoma property_value: alternative:term "ALT" xsd:string property_value: alternative:term "Atypical lipoma" xsd:string property_value: alternative:term "Atypical lipomatous tumor" xsd:string property_value: alternative:term "WDLS" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Well-differentiated liposarcoma (WDLS), the most common type of liposarcoma (LS; see this term), is a slow growing, painless tumor usually located in the retroperitoneum or the limbs. It is composed of proliferating mature adipocytes." xsd:string [Term] id: Orphanet:99976 name: Esophageal adenocarcinoma xref: ICD10:C15 xref: OMIM:614266 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:70482 ! Esophageal carcinoma property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC; see this term) affecting the glandular cells of the lower esophagus at the junction with the stomach." xsd:string [Term] id: Orphanet:99977 name: Esophageal squamous cell carcinoma xref: ICD10:C15 xref: OMIM:133239 is_a: Orphanet:377788 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! disease relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:70482 ! Esophageal carcinoma property_value: alternative:term "Esophageal epidermoid carcinoma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC; see this term) that can affect any part of the esophagus, but is usually located in the upper or middle third." xsd:string [Term] id: Orphanet:99978 name: Klatskin tumor xref: ICD10:C22.1 xref: MESH:D018285 xref: SNOMED CT:253017000 xref: SNOMED CT:6492006 xref: UMLS:C0206702 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218="valide"} ! clinical subtype relationship: Orphanet:C016 Orphanet:108938 ! sporadic relationship: Orphanet:C017 Orphanet:108944 ! Adulthood relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:70567 ! Cholangiocarcinoma property_value: alternative:term "Hilar CCA" xsd:string property_value: alternative:term "Hilar cholangiocarcinoma" xsd:string property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Klatskin tumor is an extra-hepatic cholangiocarcinoma (CCA, see this term) arising in the junction of the main right or left hepatic ducts to form the common hepatic duct." xsd:string [Term] id: Orphanet:99981 name: Apnea of prematurity xref: ICD10:P28.4 xref: SNOMED CT:276544005 xref: UMLS:C0475715 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: Orphanet:C017 Orphanet:108941 ! Neonatal/infancy relationship: Orphanet:C019 Orphanet:108926 ! 1-9 / 100 000 relationship: part_of Orphanet:70590 ! Infantile apnea property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases." xsd:string [Term] id: Orphanet:99983 name: Cutaneous myiasis xref: ICD10:B87.0 xref: SNOMED CT:240877000 xref: UMLS:C0027031 is_a: Orphanet:75110 ! Myiasis [Term] id: Orphanet:99987 name: Anophthalmia - esophageal-genital syndrome xref: ICD10:Q87.8 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:77298 ! Anophthalmia/microphthalmia - esophageal atresia relationship: part_of Orphanet:95495 ! Disease associated with nonacquired combined pituitary hormone deficiency [Term] id: Orphanet:99989 name: Intermediate DEND syndrome is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:79134 ! DEND syndrome property_value: definition:citation "orphanet" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome (see this term), a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy" xsd:string [Term] id: Orphanet:99990 name: Brill-Zinsser disease xref: ICD10:A75.1 xref: SNOMED CT:47761007 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:83314 ! Epidemic typhus [Term] id: Orphanet:99991 name: Relapsing epidemic typhus xref: ICD10:A75.0 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:83314 ! Epidemic typhus [Term] id: Orphanet:99994 name: Complex regional pain syndrome type 2 xref: ICD10:G56.4 xref: MEDDRA:10064335 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:83452 ! Complex regional pain syndrome property_value: alternative:term "Causalgia" xsd:string [Term] id: Orphanet:99995 name: Complex regional pain syndrome type 1 xref: ICD10:M89.0 xref: MEDDRA:10064334 xref: OMIM:604335 is_a: Orphanet:377796 {http://purl.obolibrary.org/obo/ECO_0000218=""} ! clinical subtype relationship: part_of Orphanet:83452 ! Complex regional pain syndrome property_value: alternative:term "Algodystrophy" xsd:string property_value: alternative:term "Reflex sympathetic dystrophy" xsd:string [Term] id: Orphanet:C001 name: phenome property_value: definition:citation "(Mahner and Kary, 1997)" xsd:string property_value: http://www.ebi.ac.uk/efo/definition "A set of phenotypes expressed at the cell, tissue, organ or organism level. It describes the \"physical totality of all traits of an organism or of one of its subsystems\"" xsd:string [Term] id: Orphanet:C005 name: inheritance property_value: http://www.ebi.ac.uk/efo/definition "The way a genetic disorder can be spread to one or more members of a family" xsd:string [Term] id: Orphanet:C010 name: gene property_value: http://www.ebi.ac.uk/efo/definition "The basic unit of heredity, consisting of a segment of DNA arranged in a linear manner along a chromosome. A gene codes for a specific RNA molecule or sequence that may or may not lead to a protein product. Includes: locus, non coding RNA and gene with protein product" xsd:string [Term] id: Orphanet:C012 name: point prevelance property_value: http://www.ebi.ac.uk/efo/definition "The number of all the existing cases of a disorder in a given population at a specific point in time" xsd:string [Term] id: Orphanet:C023 name: age of onset property_value: http://www.ebi.ac.uk/efo/definition "Age of onset of clinical signs related to a disorder" xsd:string [Typedef] id: Orphanet:C019 name: has_prevalence [Typedef] id: part_of name: part_of [Typedef] id: Orphanet:C017 name: has_AgeOfOnset [Typedef] id: Orphanet:C016 name: has_inheritance [Typedef] id: Orphanet:327767 name: Candidate gene tested in [Typedef] id: Orphanet:317349 name: Role in the phenotype of [Typedef] id: Orphanet:317348 name: Part of a fusion gene in [Typedef] id: Orphanet:317347 name: Modifying somatic mutation in [Typedef] id: Orphanet:317346 name: Modifying germline mutation in [Typedef] id: Orphanet:317345 name: Major susceptibility factor in [Typedef] id: Orphanet:317344 name: Disease-causing somatic mutation(s) in [Typedef] id: Orphanet:317343 name: Disease-causing germline mutation(s) in