]>
James Malone
2.6
Céline Rousselot
Ana Rath
Samuel Demarest
Annie Olry
Marc Hanauer
Valérie Lanneau
Drashtti Vasant
curator_inference
manual_assertion
part_of
A mutation of a gene in a germ cell that is sufficient to cause the disorder and can be transmitted to the offspring.
Disease-causing germline mutation(s) in
A mutation of a gene in a somatic cell that is sufficient to cause the disorder but can not be transmitted to the offspring.
Disease-causing somatic mutation(s) in
A gene mutation in a germ cell that predisposes to the development of a disorder, and that is necessary but not sufficient to develop the disorder.
Major susceptibility factor in
A gene mutation in a germ cell that modifies the clinical presentation of the disorder and that can be passed on to offspring.
Modifying germline mutation in
A coding or regulatory DNA sequence from a gene that has fused with another coding and/or regulatory DNA sequence from a different gene.
Part of a fusion gene in
A gene included in a chromosomal rearrangement, and proved to have a major influence in the phenotype of the chromosomal rearrangement.
Role in the phenotype of
A gene in which a mutation is suspected, but not yet proven, to be responsible for a disorder, but for which a genetic test (s) is (are) available.
Candidate gene tested in
A mutation of a gene in a germ cell that alters the function of the corresponding protein is sufficient to cause the disorder and can be transmitted to the offspring.
Disease-causing germline mutation(s) (loss of function) in
A mutation of a gene in a germ cell that results in a new function of the corresponding protein is sufficient to cause the disorder and can be transmitted to the offspring.
Disease-causing germline mutation(s) (gain of function) in
A gene in which a variation is used to monitor disease activity and/or patientoutcome.
Biomarker tested in
Relationship between a clinical entity and modes of inheritance.
has_inheritance
Relationship between clinical entity and age of onset.
has_AgeOfOnset
Relationship between clinical entity and annual incidence range.
has_annual_incidence_range
Relationship between a clinical entity and the geographical area for which epidemiological data (Epidemiology) is available.
present_in
Relationship between clinical entity and point prevalence range.
has_point_prevalence_range
Relationship between clinical entity and birth prevalence range.
has_birth_prevalence_range
Relationship between clinical entity and lifetime prevalence range.
has_lifetime_prevalence_range
Relationship between clinical entity and number of cases/families.
has_cases/families_number
Relationship between the clinical entity and the mean value of its point prevalence.
has_point_prevalence_average_value
Relationship between the clinical entity and the mean value of its birth prevalence.
has_birth_prevalence_average_value
Relationship between the clinical entity and the mean value of its lifetime prevalence.
has_lifetime_prevalence_average_value
Relationship between the clinical entity and the mean value of its annual incidence.
has_annual_incidence_average_value
Relation between a gene with protein product, non-coding RNA or disease-associated locus and its cytogenetic location on the chromosome.
has_chromosomal location
has_chromosomal_location
ORPHA number withdrawn from the Orphanet nomenclature of rare disease. This includes deprecated entities, that were clinical entities thought to be unique in the past but now considered, thanks to the evolution of the knowledge, part of another clinical entity.
obsolete_class
1.9
The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males.
orphanet
ICD-10:Q98.8
MeSH:D007713
MedDRA:10048230
UMLS:C2936741
48,XXYY syndrome
ORPHA:10
Malformation syndrome
Not yet validated
ICD-10:Q98.8
NTBT (narrower term maps to a broader term)
MeSH:D007713
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10048230
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C2936741
E (exact mapping (the terms and the concepts are equivalent))
1.9
Validated
0.49
0.25
1.19
0.4
10.0
0.15
0.25
1.7
Louis-Bar syndrome
Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.
orphanet
ICD-10:G11.3
MeSH:D001260
MedDRA:10003594
OMIM:208900
OMIM:208910
UMLS:C0004135
Ataxia-telangiectasia
ORPHA:100
ICD-10:G11.3
NTBT (narrower term maps to a broader term)
MeSH:D001260
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10003594
E (exact mapping (the terms and the concepts are equivalent))
OMIM:208900
E (exact mapping (the terms and the concepts are equivalent))
OMIM:208910
BTNT (broader term maps to a narrower term)
UMLS:C0004135
E (exact mapping (the terms and the concepts are equivalent))
Disease
0.49
Validated
0.25
Validated
1.19
Validated
0.4
Validated
10.0
Validated
0.15
Validated
0.25
Not yet validated
1.7
Validated
9.0
Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life.
orphanet
ICD-10:E70.3
MeSH:C537043
OMIM:300650
UMLS:C1845069
Ocular albinism with late-onset sensorineural deafness
ORPHA:1000
Disease
Validated
9.0
Validated
ICD-10:E70.3
NTBT (narrower term maps to a broader term)
MeSH:C537043
E (exact mapping (the terms and the concepts are equivalent))
OMIM:300650
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1845069
E (exact mapping (the terms and the concepts are equivalent))
Reticular perineurioma
ORPHA:100000
Clinical subtype
Sclerosing perineurioma
ORPHA:100001
Clinical subtype
Soft tissue perineurioma
Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization.
orphanet
Extraneural perineurioma
ORPHA:100002
Disease
Intraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a localized, tubular or fusiform enlargement of a nerve or nerve segment, usually in the extremities or the trunk, associated with a motor-predominant mononeuropathy including slow, painless, gradual loss of motor function in the involved nerve trunk with muscle weakness and atrophy and, rarely, sensory dysfunction. Cranial nerve involvement is rare.
orphanet
UMLS:C1370658
Intraneural perineurioma
ORPHA:100003
Disease
UMLS:C1370658
E (exact mapping (the terms and the concepts are equivalent))
250.0
ABetaE22Q amyloidosis
HCHWA, Dutch type
HCHWA-D
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
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.
orphanet
ICD-10:E85.4+
ICD-10:I68.0*
MeSH:C537944
MeSH:D028243
OMIM:605714
UMLS:C0268394
UMLS:C2931672
ABeta amyloidosis, Dutch type
ORPHA:100006
Clinical subtype
Validated
250.0
Validated
ICD-10:E85.4+
NTBT (narrower term maps to a broader term)
ICD-10:I68.0*
NTBT (narrower term maps to a broader term)
MeSH:C537944
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D028243
E (exact mapping (the terms and the concepts are equivalent))
OMIM:605714
NTBT (narrower term maps to a broader term)
UMLS:C0268394
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C2931672
E (exact mapping (the terms and the concepts are equivalent))
9.0
CST3-related amyloidosis
Cystatin amyloidosis
HCHWA, Icelandic type
Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Hereditary cystatin C amyloid angiopathy
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.
orphanet
ICD-10:E85.4+
ICD-10:I68.0*
OMIM:105150
UMLS:C1527338
ACys amyloidosis
ORPHA:100008
Clinical subtype
Validated
9.0
Validated
ICD-10:E85.4+
NTBT (narrower term maps to a broader term)
ICD-10:I68.0*
NTBT (narrower term maps to a broader term)
OMIM:105150
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1527338
E (exact mapping (the terms and the concepts are equivalent))
Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernable gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia.
orphanet
ICD-10:Q04.3
Lissencephaly with cerebellar hypoplasia type A
ORPHA:100011
Malformation syndrome
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
50.0
Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb.
orphanet
ICD-10:Q04.3
Lissencephaly with cerebellar hypoplasia type B
ORPHA:100012
Malformation syndrome
Validated
50.0
Validated
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
2.0
Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.
orphanet
ICD-10:Q04.3
Lissencephaly with cerebellar hypoplasia type C
ORPHA:100013
Malformation syndrome
Validated
2.0
Validated
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least ± 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.
orphanet
ICD-10:Q04.3
Lissencephaly with cerebellar hypoplasia type D
ORPHA:100014
Malformation syndrome
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (± 3 SD) and brainstem hypoplasia.
orphanet
ICD-10:Q04.3
Lissencephaly with cerebellar hypoplasia type E
ORPHA:100015
Malformation syndrome
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.
orphanet
ICD-10:Q04.3
Lissencephaly with cerebellar hypoplasia type F
ORPHA:100016
Malformation syndrome
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
RAEB-1
Refractory anemia with excess blasts (RAEB), type 1 is a severe type of RAEB (see this term) characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 5% to 9% blasts in bone marrow or 2% to 4% in peripheral blood, and no Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.
orphanet
ICD-10:D46.2
UMLS:C1318550
Refractory anemia with excess blasts type 1
ORPHA:100019
Clinical subtype
Not yet validated
ICD-10:D46.2
NTBT (narrower term maps to a broader term)
UMLS:C1318550
E (exact mapping (the terms and the concepts are equivalent))
RAEB-2
Refractory anemia with excess blasts (RAEB), type 2 is a very severe type of RAEB (see this term) characterized by cytopenias and the following hematological parameters: uni- or multilineage dysplasia, 10% to 19% blasts in bone marrow or 5% to 19% in peripheral blood, variable presence of Auer rods (abnormal, needle-shaped or round inclusions in the cytoplasm of myeloblasts and promyelocytes). Median survival has been reported to be 18 months.
orphanet
ICD-10:D46.2
UMLS:C1318551
Refractory anemia with excess blasts type 2
ORPHA:100020
Clinical subtype
Not yet validated
ICD-10:D46.2
NTBT (narrower term maps to a broader term)
UMLS:C1318551
E (exact mapping (the terms and the concepts are equivalent))
0.15
ICD-10:C90.3
Primary plasmacytoma of the bone
ORPHA:100021
Clinical subtype
0.15
Validated
ICD-10:C90.3
E (exact mapping (the terms and the concepts are equivalent))
0.1
ICD-10:C90.2
Extramedullary soft tissue plasmacytoma
ORPHA:100022
Clinical subtype
0.1
Validated
ICD-10:C90.2
NTBT (narrower term maps to a broader term)
35.0
mu-HCD
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).
orphanet
ICD-10:C88.2
UMLS:C0242310
Mu-heavy chain disease
ORPHA:100024
Clinical subtype
Validated
35.0
Validated
ICD-10:C88.2
NTBT (narrower term maps to a broader term)
UMLS:C0242310
E (exact mapping (the terms and the concepts are equivalent))
400.0
Alpha-HCD
IPSID
Immunoproliferative small intestinal disease
Mediterranean lymphoma
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.
orphanet
ICD-10:C88.3
UMLS:C0021071
Alpha-heavy chain disease
ORPHA:100025
Clinical subtype
Validated
400.0
Validated
ICD-10:C88.3
NTBT (narrower term maps to a broader term)
UMLS:C0021071
E (exact mapping (the terms and the concepts are equivalent))
120.0
Franklin disease
Gamma-HCD
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.
orphanet
ICD-10:C88.2
UMLS:C0018854
Gamma-heavy chain disease
ORPHA:100026
Clinical subtype
Validated
120.0
Validated
ICD-10:C88.2
NTBT (narrower term maps to a broader term)
UMLS:C0018854
E (exact mapping (the terms and the concepts are equivalent))
Amelogenesis imperfecta type 1
ICD-10:K00.5
OMIM:104500
OMIM:104530
OMIM:204650
OMIM:301201
OMIM:616221
OMIM:616270
OMIM:617297
UMLS:C0399367
Hypoplastic amelogenesis imperfecta
ORPHA:100031
Clinical subtype
ICD-10:K00.5
NTBT (narrower term maps to a broader term)
OMIM:104500
BTNT (broader term maps to a narrower term)
OMIM:104530
BTNT (broader term maps to a narrower term)
OMIM:204650
BTNT (broader term maps to a narrower term)
OMIM:301201
BTNT (broader term maps to a narrower term)
OMIM:616221
BTNT (broader term maps to a narrower term)
OMIM:616270
BTNT (broader term maps to a narrower term)
OMIM:617297
BTNT (broader term maps to a narrower term)
UMLS:C0399367
E (exact mapping (the terms and the concepts are equivalent))
Amelogenesis imperfecta type 3
ICD-10:K00.5
OMIM:130900
OMIM:616221
OMIM:617607
UMLS:C0399376
Hypocalcified amelogenesis imperfecta
ORPHA:100032
Clinical subtype
ICD-10:K00.5
NTBT (narrower term maps to a broader term)
OMIM:130900
E (exact mapping (the terms and the concepts are equivalent))
OMIM:616221
BTNT (broader term maps to a narrower term)
OMIM:617607
BTNT (broader term maps to a narrower term)
UMLS:C0399376
E (exact mapping (the terms and the concepts are equivalent))
Amelogenesis imperfecta type 2
ICD-10:K00.5
MeSH:C536606
OMIM:204700
OMIM:301200
OMIM:612529
OMIM:613211
OMIM:614832
OMIM:615887
OMIM:617217
UMLS:C0399372
Hypomaturation amelogenesis imperfecta
ORPHA:100033
Clinical subtype
ICD-10:K00.5
NTBT (narrower term maps to a broader term)
MeSH:C536606
E (exact mapping (the terms and the concepts are equivalent))
OMIM:204700
BTNT (broader term maps to a narrower term)
OMIM:301200
BTNT (broader term maps to a narrower term)
OMIM:612529
BTNT (broader term maps to a narrower term)
OMIM:613211
BTNT (broader term maps to a narrower term)
OMIM:614832
BTNT (broader term maps to a narrower term)
OMIM:615887
BTNT (broader term maps to a narrower term)
OMIM:617217
BTNT (broader term maps to a narrower term)
UMLS:C0399372
E (exact mapping (the terms and the concepts are equivalent))
Amelogenesis imperfecta type 4
ICD-10:K00.5
OMIM:104510
UMLS:C0399373
UMLS:C1863012
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
ORPHA:100034
Clinical subtype
ICD-10:K00.5
NTBT (narrower term maps to a broader term)
OMIM:104510
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0399373
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1863012
E (exact mapping (the terms and the concepts are equivalent))
Hepatic solitary necrotic nodule
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.
orphanet
ICD-10:D13.4
Solitary necrotic nodule of the liver
ORPHA:100035
Disease
ICD-10:D13.4
NTBT (narrower term maps to a broader term)
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_3202 with label: Dehydrated hereditary stomatocytosis
Familial pseudohyperkalemia type 1
use http://www.orpha.net/ORDO/Orphanet_90044 with label: Familial pseudohyperkalemia
OBSOLETE: Familial pseudohyperkalemia type 2
use http://www.orpha.net/ORDO/Orphanet_90044 with label: Familial pseudohyperkalemia
OBSOLETE: Familial pseudohyperkalemia, Cardiff type
20.0
CMTDIA
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.
orphanet
ICD-10:G60.0
OMIM:606483
UMLS:C1847896
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
ORPHA:100043
Disease
Validated
20.0
Validated
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
OMIM:606483
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1847896
E (exact mapping (the terms and the concepts are equivalent))
37.0
CMTDIB
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.
orphanet
ICD-10:G60.0
OMIM:606482
UMLS:C1847902
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
ORPHA:100044
Disease
Validated
37.0
Validated
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
OMIM:606482
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1847902
E (exact mapping (the terms and the concepts are equivalent))
35.0
CMTDIC
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.
orphanet
ICD-10:G60.0
OMIM:608323
UMLS:C1842237
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
ORPHA:100045
Disease
Validated
35.0
Validated
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
OMIM:608323
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1842237
E (exact mapping (the terms and the concepts are equivalent))
12.0
CMTDID
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.
orphanet
ICD-10:G60.0
OMIM:607791
UMLS:C1843075
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
ORPHA:100046
Disease
Validated
12.0
Validated
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
OMIM:607791
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1843075
E (exact mapping (the terms and the concepts are equivalent))
Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported.
orphanet
ICD-10:Q39.8
Esophageal duplication cyst
ORPHA:100047
Morphological anomaly
ICD-10:Q39.8
NTBT (narrower term maps to a broader term)
Tubular duplication of the esophagous is a rare congenital malformation 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.
orphanet
ICD-10:Q39.8
Tubular duplication of the esophagus
ORPHA:100048
Morphological anomaly
ICD-10:Q39.8
NTBT (narrower term maps to a broader term)
Primary ILD specific to childhood due to pulmonary surfactant protein anomalies
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.
orphanet
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
ORPHA:100049
Group of phenomes
1.54
HAE 1
HAE-I
Hereditary angioneurotic edema type 1
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.
orphanet
ICD-10:D84.1
MeSH:C538577
OMIM:106100
UMLS:C0398775
UMLS:C2717906
Hereditary angioedema type 1
ORPHA:100050
Etiological subtype
Not yet validated
1.54
Validated
ICD-10:D84.1
NTBT (narrower term maps to a broader term)
MeSH:C538577
E (exact mapping (the terms and the concepts are equivalent))
OMIM:106100
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0398775
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C2717906
E (exact mapping (the terms and the concepts are equivalent))
HAE 2
HAE-II
Hereditary angioneurotic edema type 2
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.
orphanet
ICD-10:D84.1
OMIM:106100
UMLS:C0398776
UMLS:C1862892
Hereditary angioedema type 2
ORPHA:100051
Etiological subtype
Validated
ICD-10:D84.1
NTBT (narrower term maps to a broader term)
OMIM:106100
NTBT (narrower term maps to a broader term)
UMLS:C0398776
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1862892
E (exact mapping (the terms and the concepts are equivalent))
HAE 3
HAE-III
Hereditary angioneurotic edema type 3
Inherited estrogen-associated angioedema
Inherited estrogen-associated angioneurotic edema
Inherited estrogen-dependent angioedema
Inherited estrogen-dependent angioneurotic edema
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.
orphanet
ICD-10:D84.1
MeSH:D056828
OMIM:610618
UMLS:C1857728
UMLS:C1960459
Hereditary angioedema type 3
ORPHA:100054
Etiological subtype
Not yet validated
ICD-10:D84.1
NTBT (narrower term maps to a broader term)
MeSH:D056828
E (exact mapping (the terms and the concepts are equivalent))
OMIM:610618
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1857728
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1960459
E (exact mapping (the terms and the concepts are equivalent))
AAE 2
AAE II
Acquired angioneurotic edema type 2
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.
orphanet
ICD-10:T78.3
Acquired angioedema type 2
ORPHA:100055
Clinical subtype
ICD-10:T78.3
NTBT (narrower term maps to a broader term)
Acquired angioneurotic edema type 1
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.
orphanet
ICD-10:T78.3
Acquired angioedema type 1
ORPHA:100056
Clinical subtype
ICD-10:T78.3
NTBT (narrower term maps to a broader term)
RAAS-blocker-induced angioedema
RAAS-blocker-induced angioneurotic edema
RAE
Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema
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.
orphanet
ICD-10:T78.3
OMIM:300909
Renin-angiotensin-aldosterone system-blocker-induced angioedema
ORPHA:100057
Clinical subtype
Not yet validated
ICD-10:T78.3
NTBT (narrower term maps to a broader term)
OMIM:300909
BTNT (broader term maps to a narrower term)
ICD-10:A39.1+
ICD-10:E35.1*
MeSH:D014884
MedDRA:10047847
UMLS:C0043068
UMLS:C1403891
Waterhouse-Friderichsen syndrome
ORPHA:100067
Clinical subtype
ICD-10:A39.1+
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:E35.1*
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D014884
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10047847
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0043068
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1403891
E (exact mapping (the terms and the concepts are equivalent))
Semantic primary progressive aphasia
Semantic variant PPA
Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.
orphanet
ICD-10:G31.0
OMIM:172700
OMIM:600274
UMLS:C0338462
Semantic dementia
ORPHA:100069
Disease
ICD-10:G31.0
NTBT (narrower term maps to a broader term)
OMIM:172700
NTBT (narrower term maps to a broader term)
OMIM:600274
NTBT (narrower term maps to a broader term)
UMLS:C0338462
E (exact mapping (the terms and the concepts are equivalent))
0.7
2.5
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.
orphanet
ICD-10:G31.0
MeSH:D057178
MedDRA:10029542
OMIM:172700
OMIM:600274
OMIM:607485
UMLS:C0751706
Progressive non-fluent aphasia
ORPHA:100070
Disease
0.7
Not yet validated
2.5
Validated
ICD-10:G31.0
NTBT (narrower term maps to a broader term)
MeSH:D057178
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10029542
E (exact mapping (the terms and the concepts are equivalent))
OMIM:172700
NTBT (narrower term maps to a broader term)
OMIM:600274
NTBT (narrower term maps to a broader term)
OMIM:607485
NTBT (narrower term maps to a broader term)
UMLS:C0751706
E (exact mapping (the terms and the concepts are equivalent))
6.0
Mosaic trisomy chromosome 3
Trisomy 3 mosaicism
Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities.
orphanet
ICD-10:Q92.1
Mosaic trisomy 3
ORPHA:100071
Malformation syndrome
Validated
6.0
Validated
ICD-10:Q92.1
NTBT (narrower term maps to a broader term)
use http://www.orpha.net/ORDO/Orphanet_97330 with label: Thoracic outlet syndrome
OBSOLETE: True vascular thoracic outlet syndrome
NTOS
Neurogenic TOS
Neurogenic cervical rib syndrome
Neurogenic costoclavicular syndrome
Neurogenic thoracic outlet compression syndrome
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.
orphanet
ICD-10:G54.0
UMLS:C0751549
Neurogenic thoracic outlet syndrome
ORPHA:100073
Clinical subtype
Not yet validated
ICD-10:G54.0
NTBT (narrower term maps to a broader term)
UMLS:C0751549
E (exact mapping (the terms and the concepts are equivalent))
3.2
0.5
0.7
1.7
GNET
Gastric NET
Gastric neuroendocrine tumor
NET of stomach
Gastric neuroendocrine tumor is a rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported.
orphanet
Neuroendocrine tumor of stomach
ORPHA:100075
Disease
3.2
Validated
0.5
Validated
0.7
Validated
1.7
Validated
Duodenal neuroendocrine tumor
ORPHA:100076
Group of phenomes
Jejunal neuroendocrine neoplasm
Jejunal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the jejunum. Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.
orphanet
Jejunal neuroendocrine tumor
ORPHA:100077
Disease
Ileal neuroendocrine neoplasm
Ileal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the ileum (usually the terminal ileum). Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.
orphanet
Ileal neuroendocrine tumor
ORPHA:100078
Disease
Appendiceal NEN
Appendiceal neuroendocrine neoplasm
NEN of appendix
Endocrine tumor of the appendix is the most common sporadic neoplasm of the appendix and the second most common type of digestive endocrine tumor, often with no specific clinical presentation. They are divided into either classic endocrine tumor of the appendix or the more aggressive goblet cell carcinoma (GCC; see these terms).
orphanet
ICD-10:C18.1
ICD-10:D37.3
Neuroendocrine neoplasm of appendix
ORPHA:100079
Disease
ICD-10:C18.1
NTBT (narrower term maps to a broader term)
ICD-10:D37.3
NTBT (narrower term maps to a broader term)
Colonic NET
NET of the colon
Neuroendocrine neoplasm of the colon
Neuroendocrine tumor of the colon is a rare epithelial tumor of the large intestine, arising from enterochromaffin cells, most commonly in the cecum or ascending colon. The tumor is usually slow-growing and can be diagnosed as an incidental finding in an asymptomatic patient, while in the later stages patients can present with abdominal pain, palpable abdominal mass, changes in bowel habits, signs of bowel obstruction, gastrointestinal bleeding, anorexia, weight loss or, rarely, carcinoid syndrome (facial flushing, diarrhea, tachycardia, hypo- and hypertension, cardiac abnormalities).
orphanet
Neuroendocrine tumor of the colon
ORPHA:100080
Disease
NET of the rectum
Rectal NET
Rectal neuroendocrine tumor
Neuroendocrine tumor of the rectum is a rare epithelial tumor of rectum arising from enterochromaffin cells, most often in the mid-rectum. The tumors are slow growing, in early stages majority are asymptomatic and are diagnosed incidentally. Later in the course, the tumor may present with rectal bleeding, abdominal or rectal pain, tenesmus, changes in bowel habits, or weight loss. In some cases it may present with carcinoid symptoms of flushing and increased gut motility.
orphanet
Neuroendocrine tumor of the rectum
ORPHA:100081
Disease
NET of anal canal
Neuroendocrine tumor of the anal canal is an epithelial tumor of anal canal arising from enterochromaffin cells in the colorectal-type epithelium above the dentate line and in the anal transition zone. The tumors are slow growing and the majority of cases are diagnosed in later advanced stages. It may present with symptoms related to the anatomical location of the tumor (rectal mass, rectal bleeding and pain, tenesmus or changes in bowel habits), symptoms of carcinoid syndrome (flushing and increased gut motility) or nonspecific symptoms of advanced disease (hepatomegaly, fever, weight loss, anorexia, malaise).
orphanet
Neuroendocrine tumor of anal canal
ORPHA:100082
Disease
Laryngeal neuroendocrine tumor
ORPHA:100083
Disease
Middle ear neuroendocrine tumor
ORPHA:100084
Disease
0.2
Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed.
orphanet
ICD-10:C22.7
Primary hepatic neuroendocrine carcinoma
ORPHA:100085
Disease
0.2
Validated
Validated
ICD-10:C22.7
NTBT (narrower term maps to a broader term)
ICD-10:C23
Gallbladder neuroendocrine tumor
ORPHA:100086
Disease
ICD-10:C23
NTBT (narrower term maps to a broader term)
5.0
3.2
5.35
5.7
UMLS:C0040136
Thyroid tumor
ORPHA:100087
Group of phenomes
5.0
Not yet validated
3.2
Not yet validated
5.35
Not yet validated
5.7
Not yet validated
UMLS:C0040136
E (exact mapping (the terms and the concepts are equivalent))
12.2
3.65
3.1
3.9
61.7
12.7
MedDRA:10007476
UMLS:C0549473
Thyroid carcinoma
ORPHA:100088
Group of phenomes
12.2
Validated
3.65
Not yet validated
3.1
Validated
3.9
Not yet validated
61.7
Validated
12.7
Validated
MedDRA:10007476
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0549473
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:C75.0
ICD-10:D35.1
ICD-10:D44.2
UMLS:C0030521
Rare parathyroid tumor
ORPHA:100090
Group of phenomes
ICD-10:C75.0
BTNT (broader term maps to a narrower term)
ICD-10:D35.1
BTNT (broader term maps to a narrower term)
ICD-10:D44.2
BTNT (broader term maps to a narrower term)
UMLS:C0030521
E (exact mapping (the terms and the concepts are equivalent))
Adrenal/paraganglial tumor
ORPHA:100091
Group of phenomes
GEP-NEN
Gastroenteropancreatic neuroendocrine neoplasm
ORPHA:100092
Group of phenomes
Malignant carcinoid syndrome
ICD-10:E34.0
OMIM:114900
Carcinoid syndrome
ORPHA:100093
Clinical syndrome
ICD-10:E34.0
E (exact mapping (the terms and the concepts are equivalent))
OMIM:114900
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:D44.8
UMLS:C0027662
Multiple polyglandular tumor
ORPHA:100094
Group of phenomes
ICD-10:D44.8
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0027662
E (exact mapping (the terms and the concepts are equivalent))
115.0
Albright hereditary osteodystrophy type 3
Albright hereditary osteodystrophy-like syndrome
Brachydactyly-intellectual disability syndrome
Del(2)(q37)
Deletion 2q37
Deletion 2q37-qter
Monosomy 2q37-qter
Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.
orphanet
ICD-10:Q93.5
MeSH:C538317
OMIM:600430
UMLS:C2931817
2q37 microdeletion syndrome
ORPHA:1001
Malformation syndrome
Validated
115.0
Validated
ICD-10:Q93.5
NTBT (narrower term maps to a broader term)
MeSH:C538317
E (exact mapping (the terms and the concepts are equivalent))
OMIM:600430
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C2931817
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C3714644
Thymic tumor
ORPHA:100100
Group of phenomes
UMLS:C3714644
E (exact mapping (the terms and the concepts are equivalent))
Neuroendocrine tumor with other location
ORPHA:100101
Group of phenomes
2.0
Scalp defects-postaxial polydactyly syndrome is characterised by congenital scalp defects and postaxial polydactyly type A.
orphanet
ICD-10:Q87.2
MeSH:C536622
OMIM:181250
UMLS:C1867021
Scalp defects-postaxial polydactyly syndrome
ORPHA:1003
Malformation syndrome
Validated
2.0
Validated
ICD-10:Q87.2
NTBT (narrower term maps to a broader term)
MeSH:C536622
E (exact mapping (the terms and the concepts are equivalent))
OMIM:181250
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1867021
E (exact mapping (the terms and the concepts are equivalent))
5.0
ACD-intellectual disability syndrome
Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.
orphanet
ICD-10:Q87.8
MeSH:C537051
OMIM:203550
UMLS:C0795895
Alopecia-contractures-dwarfism-intellectual disability syndrome
ORPHA:1005
Malformation syndrome
Validated
5.0
Validated
ICD-10:Q87.8
NTBT (narrower term maps to a broader term)
MeSH:C537051
E (exact mapping (the terms and the concepts are equivalent))
OMIM:203550
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0795895
E (exact mapping (the terms and the concepts are equivalent))
3.0
Ipp-Gelfand syndrome
Alopecia antibody deficiency
ORPHA:1006
Disease
Validated
3.0
Validated
12.0
Shokeir syndrome
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.
orphanet
ICD-10:Q87.8
MeSH:C537057
OMIM:104130
UMLS:C1863090
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
ORPHA:1008
Disease
Validated
12.0
Validated
ICD-10:Q87.8
NTBT (narrower term maps to a broader term)
MeSH:C537057
E (exact mapping (the terms and the concepts are equivalent))
OMIM:104130
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1863090
E (exact mapping (the terms and the concepts are equivalent))
ALAD porphyria
Porphyria due to ALAD deficiency
Porphyria due to delta-aminolevulinate dehydratase deficiency
Porphyria of Doss
Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.
orphanet
ICD-10:E80.2
OMIM:612740
Porphyria due to ALA dehydratase deficiency
ORPHA:100924
Disease
Not yet validated
ICD-10:E80.2
NTBT (narrower term maps to a broader term)
OMIM:612740
E (exact mapping (the terms and the concepts are equivalent))
Nuclear oculomotor paralysis
ORPHA:100932
Group of phenomes
Intellectual disability associated with fragile site FRAXE
FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.
orphanet
OMIM:309548
FRAXE intellectual disability
ORPHA:100973
Disease
Not yet validated
OMIM:309548
E (exact mapping (the terms and the concepts are equivalent))
FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.
orphanet
FRAXF syndrome
ORPHA:100974
Disease
Not yet validated
20.0
BSI
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.
orphanet
ICD-10:Q80.2
OMIM:242300
Bathing suit ichthyosis
ORPHA:100976
Disease
Validated
20.0
Validated
ICD-10:Q80.2
NTBT (narrower term maps to a broader term)
OMIM:242300
NTBT (narrower term maps to a broader term)
Benallegue-Lacete syndrome
ICD-10:Q87.5
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
ORPHA:100978
Malformation syndrome
Validated
ICD-10:Q87.5
NTBT (narrower term maps to a broader term)
1.0
Autosomal dominant complex HSP
Autosomal dominant complex SPG
Autosomal dominant complicated HSP
Autosomal dominant complicated SPG
Autosomal dominant complicated spastic paraplegia
ICD-10:G11.4
Autosomal dominant complex spastic paraplegia
ORPHA:100979
Group of phenomes
Not yet validated
1.0
Not yet validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
0.9
4.4
Autosomal dominant pure HSP
Autosomal dominant pure SPG
Autosomal dominant uncomplicated HSP
Autosomal dominant uncomplicated SPG
Autosomal dominant uncomplicated spastic paraplegia
ICD-10:G11.4
Autosomal dominant pure spastic paraplegia
ORPHA:100980
Group of phenomes
Not yet validated
0.9
Validated
4.4
Not yet validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Autosomal recessive complex HSP
Autosomal recessive complex SPG
Autosomal recessive complicated HSP
Autosomal recessive complicated SPG
Autosomal recessive complicated spastic paraplegia
ICD-10:G11.4
Autosomal recessive complex spastic paraplegia
ORPHA:100981
Group of phenomes
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
Autosomal recessive pure HSP
Autosomal recessive pure SPG
Autosomal recessive uncomplicated HSP
Autosomal recessive uncomplicated SPG
Autosomal recessive uncomplicated spastic paraplegia
ICD-10:G11.4
Autosomal recessive pure spastic paraplegia
ORPHA:100982
Group of phenomes
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
0.14
Strümpell disease
ICD-10:G11.4
MeSH:C536864
OMIM:182600
UMLS:C2931355
Autosomal dominant spastic paraplegia type 3
ORPHA:100984
Validated
0.14
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
MeSH:C536864
E (exact mapping (the terms and the concepts are equivalent))
OMIM:182600
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C2931355
E (exact mapping (the terms and the concepts are equivalent))
Disease
0.91
SPG4
Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.
orphanet
ICD-10:G11.4
MeSH:C536865
OMIM:182601
UMLS:C1866855
Autosomal dominant spastic paraplegia type 4
ORPHA:100985
Disease
0.91
Not yet validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
MeSH:C536865
E (exact mapping (the terms and the concepts are equivalent))
OMIM:182601
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1866855
E (exact mapping (the terms and the concepts are equivalent))
SPG5A
Autosomal recessive spastic paraplegia type 5A is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.
orphanet
ICD-10:G11.4
MeSH:C536871
OMIM:270800
UMLS:C1849115
UMLS:C2931356
Autosomal recessive spastic paraplegia type 5A
ORPHA:100986
Disease
Not yet validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
MeSH:C536871
E (exact mapping (the terms and the concepts are equivalent))
OMIM:270800
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1849115
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C2931356
E (exact mapping (the terms and the concepts are equivalent))
10.0
SPG6
Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.
orphanet
ICD-10:G11.4
MeSH:C536866
OMIM:600363
UMLS:C1838192
Autosomal dominant spastic paraplegia type 6
ORPHA:100988
Disease
Validated
10.0
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
MeSH:C536866
E (exact mapping (the terms and the concepts are equivalent))
OMIM:600363
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1838192
E (exact mapping (the terms and the concepts are equivalent))
10.0
SPG8
ICD-10:G11.4
MeSH:C536867
OMIM:603563
UMLS:C1863704
Autosomal dominant spastic paraplegia type 8
ORPHA:100989
Disease
Validated
10.0
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
MeSH:C536867
E (exact mapping (the terms and the concepts are equivalent))
OMIM:603563
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1863704
E (exact mapping (the terms and the concepts are equivalent))
7.0
Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome
SPG9
Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
ICD-10:G11.4
MeSH:C536868
OMIM:601162
UMLS:C1832669
Autosomal dominant spastic paraplegia type 9
ORPHA:100990
Disease
Validated
7.0
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
MeSH:C536868
E (exact mapping (the terms and the concepts are equivalent))
OMIM:601162
BTNT (broader term maps to a narrower term)
UMLS:C1832669
E (exact mapping (the terms and the concepts are equivalent))
10.0
SPG10
Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.
orphanet
ICD-10:G11.4
MeSH:C537482
OMIM:604187
UMLS:C1858712
Autosomal dominant spastic paraplegia type 10
ORPHA:100991
Disease
Validated
10.0
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
MeSH:C537482
E (exact mapping (the terms and the concepts are equivalent))
OMIM:604187
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1858712
E (exact mapping (the terms and the concepts are equivalent))
27.0
SPG12
Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.
orphanet
ICD-10:G11.4
MeSH:C537484
OMIM:604805
UMLS:C1858106
Autosomal dominant spastic paraplegia type 12
ORPHA:100993
Disease
Validated
27.0
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
MeSH:C537484
E (exact mapping (the terms and the concepts are equivalent))
OMIM:604805
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1858106
E (exact mapping (the terms and the concepts are equivalent))
10.0
SPG13
ICD-10:G11.4
MeSH:C537485
OMIM:605280
UMLS:C1854467
Autosomal dominant spastic paraplegia type 13
ORPHA:100994
Disease
Validated
10.0
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
MeSH:C537485
E (exact mapping (the terms and the concepts are equivalent))
OMIM:605280
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1854467
E (exact mapping (the terms and the concepts are equivalent))
1.0
SPG14
ICD-10:G11.4
MeSH:C537486
OMIM:605229
UMLS:C1854568
Autosomal recessive spastic paraplegia type 14
ORPHA:100995
Disease
Validated
1.0
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
MeSH:C537486
E (exact mapping (the terms and the concepts are equivalent))
OMIM:605229
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1854568
E (exact mapping (the terms and the concepts are equivalent))
10.0
Hereditary spastic paraparesis type 15
Kjellin syndrome
SPG15
Spastic paraplegia-retinal degeneration syndrome
Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.
orphanet
ICD-10:G11.4
MeSH:C536642
OMIM:270700
UMLS:C1849128
Autosomal recessive spastic paraplegia type 15
ORPHA:100996
Disease
Validated
10.0
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
MeSH:C536642
E (exact mapping (the terms and the concepts are equivalent))
OMIM:270700
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1849128
E (exact mapping (the terms and the concepts are equivalent))
1.0
SPG16
ICD-10:G11.4
MeSH:C536643
OMIM:300266
UMLS:C1846046
X-linked spastic paraplegia type 16
ORPHA:100997
Disease
Validated
1.0
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
MeSH:C536643
E (exact mapping (the terms and the concepts are equivalent))
OMIM:300266
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1846046
E (exact mapping (the terms and the concepts are equivalent))
20.0
SPG17
Silver syndrome
Spastic paraplegia-amyotrophy of hands and feet
ICD-10:G11.4
OMIM:270685
UMLS:C2931276
Autosomal dominant spastic paraplegia type 17
ORPHA:100998
Disease
Validated
20.0
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
OMIM:270685
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C2931276
E (exact mapping (the terms and the concepts are equivalent))
1.0
SPG19
Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.
orphanet
ICD-10:G11.4
MeSH:C536856
OMIM:607152
UMLS:C1846685
Autosomal dominant spastic paraplegia type 19
ORPHA:100999
Disease
Validated
1.0
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
MeSH:C536856
E (exact mapping (the terms and the concepts are equivalent))
OMIM:607152
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1846685
E (exact mapping (the terms and the concepts are equivalent))
0.48
0.71
DRPLA
Dentatorubropallidoluysian atrophy
Naito-Oyanagi disease
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.
orphanet
ICD-10:G11.8
OMIM:125370
UMLS:C0751781
Dentatorubral pallidoluysian atrophy
ORPHA:101
Disease
Not yet validated
0.48
Validated
0.71
Not yet validated
ICD-10:G11.8
NTBT (narrower term maps to a broader term)
OMIM:125370
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0751781
E (exact mapping (the terms and the concepts are equivalent))
10.0
Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
PPK-CA, Stevanovic type
Palmoplantar keratoderma and congenital alopecia, Stevanovic type
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.
orphanet
ICD-10:Q82.8
OMIM:104100
UMLS:C1863093
Autosomal dominant palmoplantar keratoderma and congenital alopecia
ORPHA:1010
Disease
Validated
10.0
Validated
ICD-10:Q82.8
NTBT (narrower term maps to a broader term)
OMIM:104100
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1863093
E (exact mapping (the terms and the concepts are equivalent))
29.0
Childhood-onset spastic paraparesis-distal muscle wasting syndrome
SPG20
Troyer syndrome
gene (13q13.1), which encodes the protein spartin.
orphanet
ICD-10:G11.4
OMIM:275900
UMLS:C0393559
Autosomal recessive spastic paraplegia type 20
ORPHA:101000
Disease
Validated
29.0
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
OMIM:275900
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0393559
E (exact mapping (the terms and the concepts are equivalent))
35.0
Mast syndrome
SPG21
Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.
orphanet
ICD-10:G11.4
OMIM:248900
UMLS:C1855346
Autosomal recessive spastic paraplegia type 21
ORPHA:101001
Disease
Validated
35.0
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
OMIM:248900
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1855346
E (exact mapping (the terms and the concepts are equivalent))
5.0
Lison syndrome
SPG23
Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.
orphanet
ICD-10:G11.4
OMIM:270750
UMLS:C0796019
Autosomal recessive spastic paraplegia type 23
ORPHA:101003
Disease
Validated
5.0
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
OMIM:270750
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0796019
E (exact mapping (the terms and the concepts are equivalent))
1.0
SPG24
ICD-10:G11.4
OMIM:607584
UMLS:C1843569
Autosomal recessive spastic paraplegia type 24
ORPHA:101004
Disease
Validated
1.0
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
OMIM:607584
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1843569
E (exact mapping (the terms and the concepts are equivalent))
1.0
Autosomal recessive spastic paraplegia-disc herniation syndrome
SPG25
Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.
orphanet
ICD-10:G11.4
MeSH:C536861
OMIM:608220
UMLS:C2936860
Autosomal recessive spastic paraplegia type 25
ORPHA:101005
Disease
Validated
1.0
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
MeSH:C536861
E (exact mapping (the terms and the concepts are equivalent))
OMIM:608220
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C2936860
E (exact mapping (the terms and the concepts are equivalent))
10.0
GM2 synthase deficiency
SPG26
gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.
orphanet
ICD-10:G11.4
MeSH:C536862
OMIM:609195
UMLS:C1836632
Autosomal recessive spastic paraplegia type 26
ORPHA:101006
Disease
Validated
10.0
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
MeSH:C536862
E (exact mapping (the terms and the concepts are equivalent))
OMIM:609195
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1836632
E (exact mapping (the terms and the concepts are equivalent))
10.0
SPG27
ICD-10:G11.4
OMIM:609041
UMLS:C1836899
Autosomal recessive spastic paraplegia type 27
ORPHA:101007
Disease
Validated
10.0
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
OMIM:609041
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1836899
E (exact mapping (the terms and the concepts are equivalent))
6.0
SPG28
Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.
orphanet
ICD-10:G11.4
OMIM:609340
UMLS:C1836295
Autosomal recessive spastic paraplegia type 28
ORPHA:101008
Disease
Validated
6.0
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
OMIM:609340
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1836295
E (exact mapping (the terms and the concepts are equivalent))
1.0
SPG29
Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.
orphanet
ICD-10:G11.4
MeSH:C536863
OMIM:609727
UMLS:C1857855
Autosomal dominant spastic paraplegia type 29
ORPHA:101009
Disease
Validated
1.0
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
MeSH:C536863
E (exact mapping (the terms and the concepts are equivalent))
OMIM:609727
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1857855
E (exact mapping (the terms and the concepts are equivalent))
3.0
SPG30
Autosomal spastic paraplegia type 30 is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.
orphanet
ICD-10:G11.4
OMIM:610357
UMLS:C1835896
Autosomal spastic paraplegia type 30
ORPHA:101010
Disease
Validated
3.0
Validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
OMIM:610357
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1835896
E (exact mapping (the terms and the concepts are equivalent))
SPG31
30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.
orphanet
ICD-10:G11.4
OMIM:610250
UMLS:C1853247
Autosomal dominant spastic paraplegia type 31
ORPHA:101011
Disease
Not yet validated
ICD-10:G11.4
NTBT (narrower term maps to a broader term)
OMIM:610250
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1853247
E (exact mapping (the terms and the concepts are equivalent))
40.0
Romano-Ward long QT syndrome
Romano-Ward syndrome (RWS) is an autosomal dominant variant of the long QT syndrome (LQTS, see this term) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia).
orphanet
ICD-10:I45.8
MeSH:D029597
MedDRA:10039211
OMIM:192500
OMIM:600919
OMIM:603830
OMIM:611818
OMIM:611819
OMIM:611820
OMIM:612955
OMIM:613485
OMIM:613688
OMIM:613693
OMIM:613695
OMIM:616247
OMIM:616249
UMLS:C0035828
Romano-Ward syndrome
ORPHA:101016
Disease
40.0
Validated
ICD-10:I45.8
NTBT (narrower term maps to a broader term)
MeSH:D029597
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10039211
E (exact mapping (the terms and the concepts are equivalent))
OMIM:192500
E (exact mapping (the terms and the concepts are equivalent))
OMIM:600919
BTNT (broader term maps to a narrower term)
OMIM:603830
BTNT (broader term maps to a narrower term)
OMIM:611818
BTNT (broader term maps to a narrower term)
OMIM:611819
BTNT (broader term maps to a narrower term)
OMIM:611820
BTNT (broader term maps to a narrower term)
OMIM:612955
BTNT (broader term maps to a narrower term)
OMIM:613485
BTNT (broader term maps to a narrower term)
OMIM:613688
BTNT (broader term maps to a narrower term)
OMIM:613693
BTNT (broader term maps to a narrower term)
OMIM:613695
BTNT (broader term maps to a narrower term)
OMIM:616247
BTNT (broader term maps to a narrower term)
OMIM:616249
BTNT (broader term maps to a narrower term)
UMLS:C0035828
E (exact mapping (the terms and the concepts are equivalent))
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_2882 with label: Sitosterolemia
Mediterranean macrothrombocytopenia
ICD-10:Q35.1
Cleft hard palate
ORPHA:101023
Morphological anomaly
ICD-10:Q35.1
E (exact mapping (the terms and the concepts are equivalent))
23.0
TALDO deficiency
Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.
orphanet
ICD-10:E74.8
OMIM:606003
UMLS:C1291329
Transaldolase deficiency
ORPHA:101028
Disease
Validated
23.0
Validated
ICD-10:E74.8
NTBT (narrower term maps to a broader term)
OMIM:606003
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1291329
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:Q04.8
Sub-cortical nodular heterotopia
ORPHA:101029
Clinical subtype
ICD-10:Q04.8
NTBT (narrower term maps to a broader term)
ICD-10:Q04.8
MedDRA:10071150
UMLS:C3160906
Subependymal nodular heterotopia
ORPHA:101030
Clinical subtype
ICD-10:Q04.8
NTBT (narrower term maps to a broader term)
MedDRA:10071150
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C3160906
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:Q13.3
MeSH:C537885
UMLS:C2931652
Peters anomaly-cataract syndrome
ORPHA:101033
Clinical subtype
ICD-10:Q13.3
NTBT (narrower term maps to a broader term)
MeSH:C537885
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C2931652
E (exact mapping (the terms and the concepts are equivalent))
use http://www.orpha.net/ORDO/Orphanet_320317 with label: Cleft lip/palate-ectodermal dysplasia syndrome
OBSOLETE: Zlotogura-Martinez syndrome
5.0
EFMR
Juberg-Hellman syndrome
Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.
orphanet
OMIM:300088
UMLS:C1848137
Female restricted epilepsy with intellectual disability
ORPHA:101039
Disease
Validated
5.0
Validated
OMIM:300088
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1848137
E (exact mapping (the terms and the concepts are equivalent))
Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration.
orphanet
ICD-10:D68.2
OMIM:202400
UMLS:C2584774
Familial hypofibrinogenemia
ORPHA:101041
Clinical subtype
Not yet validated
ICD-10:D68.2
NTBT (narrower term maps to a broader term)
OMIM:202400
NTBT (narrower term maps to a broader term)
UMLS:C2584774
E (exact mapping (the terms and the concepts are equivalent))
use http://www.orpha.net/ORDO/Orphanet_99045 with label: Double outlet right ventricle with subpulmonary ventricular septal defect
OBSOLETE: Taussig-Bing syndrome
ICD-10:Q23.0
UMLS:C0344993
Aortic valve dysplasia
ORPHA:101043
Clinical subtype
ICD-10:Q23.0
NTBT (narrower term maps to a broader term)
UMLS:C0344993
E (exact mapping (the terms and the concepts are equivalent))
ADEAF
ADLTE
ADPEAF
Autosomal dominant lateral temporal lobe epilepsy
Partial epilepsy with auditory aura
Partial epilepsy with auditory features
OMIM:600512
OMIM:616436
OMIM:616461
UMLS:C1838062
Autosomal dominant epilepsy with auditory features
ORPHA:101046
Disease
Validated
OMIM:600512
E (exact mapping (the terms and the concepts are equivalent))
OMIM:616436
BTNT (broader term maps to a narrower term)
OMIM:616461
BTNT (broader term maps to a narrower term)
UMLS:C1838062
E (exact mapping (the terms and the concepts are equivalent))
FHH type 2
ICD-10:E83.5
MeSH:C537146
OMIM:145981
UMLS:C1840347
UMLS:C2931427
Familial hypocalciuric hypercalcemia type 2
ORPHA:101049
Etiological subtype
ICD-10:E83.5
NTBT (narrower term maps to a broader term)
MeSH:C537146
E (exact mapping (the terms and the concepts are equivalent))
OMIM:145981
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1840347
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C2931427
E (exact mapping (the terms and the concepts are equivalent))
FHH type 3
ICD-10:E83.5
MeSH:C537147
OMIM:600740
UMLS:C1833372
Familial hypocalciuric hypercalcemia type 3
ORPHA:101050
Etiological subtype
ICD-10:E83.5
NTBT (narrower term maps to a broader term)
MeSH:C537147
E (exact mapping (the terms and the concepts are equivalent))
OMIM:600740
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1833372
E (exact mapping (the terms and the concepts are equivalent))
use http://www.orpha.net/ORDO/Orphanet_1083 with label: Microlissencephaly
OBSOLETE: Microlissencephaly type B
Complete situs inversus
Complete situs inversus viscerum
Situs inversus
ICD-10:Q89.3
UMLS:C0037221
Situs inversus totalis
ORPHA:101063
Morphological anomaly
ICD-10:Q89.3
NTBT (narrower term maps to a broader term)
UMLS:C0037221
E (exact mapping (the terms and the concepts are equivalent))
6.0
CSCD
Congenital hereditary stromal dystrophy
Witschel dystrophy
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.
orphanet
ICD-10:H18.5
OMIM:610048
UMLS:C1864738
Congenital stromal corneal dystrophy
ORPHA:101068
Disease
Validated
6.0
Validated
ICD-10:H18.5
NTBT (narrower term maps to a broader term)
OMIM:610048
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1864738
E (exact mapping (the terms and the concepts are equivalent))
Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.
orphanet
ICD-10:Q04.3
OMIM:606854
UMLS:C1847352
Bilateral frontoparietal polymicrogyria
ORPHA:101070
Clinical subtype
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
OMIM:606854
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1847352
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:Q04.3
Unilateral hemispheric polymicrogyria
ORPHA:101071
Clinical subtype
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
CMT1X
CMTX1
X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported.
orphanet
ICD-10:G60.0
MeSH:C535919
OMIM:302800
UMLS:C0393808
X-linked Charcot-Marie-Tooth disease type 1
ORPHA:101075
Disease
Validated
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
MeSH:C535919
E (exact mapping (the terms and the concepts are equivalent))
OMIM:302800
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0393808
E (exact mapping (the terms and the concepts are equivalent))
5.0
CMTX2
X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.
orphanet
ICD-10:G60.0
OMIM:302801
UMLS:C1844873
X-linked Charcot-Marie-Tooth disease type 2
ORPHA:101076
Disease
Validated
5.0
Validated
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
OMIM:302801
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1844873
E (exact mapping (the terms and the concepts are equivalent))
4.0
CMT3X
CMTX3
X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.
orphanet
ICD-10:G60.0
OMIM:302802
UMLS:C1844865
X-linked Charcot-Marie-Tooth disease type 3
ORPHA:101077
Disease
Validated
4.0
Validated
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
OMIM:302802
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1844865
E (exact mapping (the terms and the concepts are equivalent))
7.0
CMT4X
CMTX4
Cowchock syndrome
X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype.
orphanet
ICD-10:G60.0
OMIM:310490
UMLS:C0795910
X-linked Charcot-Marie-Tooth disease type 4
ORPHA:101078
Disease
Validated
7.0
Validated
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
OMIM:310490
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0795910
E (exact mapping (the terms and the concepts are equivalent))
82.37
15.2
CMT1A
Microduplication 17p12
ICD-10:G60.0
OMIM:118220
UMLS:C0270911
Charcot-Marie-Tooth disease type 1A
ORPHA:101081
Disease
Validated
82.37
Not yet validated
15.2
Not yet validated
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
OMIM:118220
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0270911
E (exact mapping (the terms and the concepts are equivalent))
CMT1B
age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT phenotype in about 15% of total CMT1B cases.
orphanet
ICD-10:G60.0
OMIM:118200
UMLS:C0270912
Charcot-Marie-Tooth disease type 1B
ORPHA:101082
Disease
Validated
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
OMIM:118200
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0270912
E (exact mapping (the terms and the concepts are equivalent))
CMT1C
ICD-10:G60.0
MeSH:C537984
OMIM:601098
UMLS:C0270913
Charcot-Marie-Tooth disease type 1C
ORPHA:101083
Disease
Not yet validated
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
MeSH:C537984
E (exact mapping (the terms and the concepts are equivalent))
OMIM:601098
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0270913
E (exact mapping (the terms and the concepts are equivalent))
CMT1D
gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.
orphanet
ICD-10:G60.0
MeSH:C537985
OMIM:607678
UMLS:C1843247
Charcot-Marie-Tooth disease type 1D
ORPHA:101084
Disease
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
MeSH:C537985
E (exact mapping (the terms and the concepts are equivalent))
OMIM:607678
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1843247
E (exact mapping (the terms and the concepts are equivalent))
CMT1F
gene (8p21.2).
orphanet
ICD-10:G60.0
OMIM:607734
UMLS:C1843164
Charcot-Marie-Tooth disease type 1F
ORPHA:101085
Disease
Validated
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
OMIM:607734
NTBT (narrower term maps to a broader term)
UMLS:C1843164
E (exact mapping (the terms and the concepts are equivalent))
HIGM1
Hyper-IgM syndrome due to CD40 ligand deficiency
Hyper-IgM syndrome due to CD40L deficiency
Hyper-IgM syndrome type 1
XHIGM
ICD-10:D80.5
OMIM:308230
UMLS:C0398689
X-linked hyper-IgM syndrome
ORPHA:101088
Clinical subtype
ICD-10:D80.5
NTBT (narrower term maps to a broader term)
OMIM:308230
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0398689
E (exact mapping (the terms and the concepts are equivalent))
AID deficiency
Activation-induced cytidine deaminase deficiency
HIGM2
ICD-10:D80.5
OMIM:605258
UMLS:C1720956
Hyper-IgM syndrome type 2
ORPHA:101089
Clinical subtype
ICD-10:D80.5
NTBT (narrower term maps to a broader term)
OMIM:605258
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1720956
E (exact mapping (the terms and the concepts are equivalent))
HIGM3
Hyper-IgM syndrome due to CD40 deficiency
ICD-10:D80.5
OMIM:606843
UMLS:C1720957
Hyper-IgM syndrome type 3
ORPHA:101090
Clinical subtype
ICD-10:D80.5
NTBT (narrower term maps to a broader term)
OMIM:606843
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1720957
E (exact mapping (the terms and the concepts are equivalent))
HIGM4
ICD-10:D80.5
OMIM:608184
UMLS:C1842413
Hyper-IgM syndrome type 4
ORPHA:101091
Clinical subtype
ICD-10:D80.5
NTBT (narrower term maps to a broader term)
OMIM:608184
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1842413
E (exact mapping (the terms and the concepts are equivalent))
HIGM5
Hyper-IgM syndrome due to UNG deficiency
Hyper-IgM syndrome due to uracil N-glycosylase
ICD-10:D80.5
OMIM:608106
UMLS:C1720958
Hyper-IgM syndrome type 5
ORPHA:101092
Clinical subtype
ICD-10:D80.5
NTBT (narrower term maps to a broader term)
OMIM:608106
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1720958
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:D46.7
MedDRA:10054329
UMLS:C0002893
UMLS:C0553669
Aregenerative anemia
ORPHA:101096
Disease
ICD-10:D46.7
NTBT (narrower term maps to a broader term)
MedDRA:10054329
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0002893
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0553669
E (exact mapping (the terms and the concepts are equivalent))
ARCMT2K
Autosomal recessive axonal CMT4C4
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.
orphanet
ICD-10:G60.0
OMIM:607706
OMIM:607831
UMLS:C1842983
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
ORPHA:101097
Disease
Not yet validated
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
OMIM:607706
BTNT (broader term maps to a narrower term)
OMIM:607831
BTNT (broader term maps to a narrower term)
UMLS:C1842983
E (exact mapping (the terms and the concepts are equivalent))
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_3464 with label: Woodhouse-Sakati syndrome
Alopecia-hypogonadism-extrapyramidal syndrome
1.0
AR-CMT2B2
Autosomal recessive axonal CMT4C3
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.
orphanet
ICD-10:G60.0
MeSH:C537991
OMIM:605589
UMLS:C1854150
Charcot-Marie-Tooth disease type 2B2
ORPHA:101101
Disease
Validated
1.0
Validated
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
MeSH:C537991
E (exact mapping (the terms and the concepts are equivalent))
OMIM:605589
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1854150
E (exact mapping (the terms and the concepts are equivalent))
13.0
AR-CMT2C
Autosomal recessive axonal CMT4C2
Axonal Charcot-Marie-Tooth disease with pyramidal involvement
CMT2H
Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.
orphanet
ICD-10:G60.0
MeSH:C535415
OMIM:607731
UMLS:C1843173
Charcot-Marie-Tooth disease type 2H
ORPHA:101102
Disease
Validated
13.0
Validated
ICD-10:G60.0
NTBT (narrower term maps to a broader term)
MeSH:C535415
E (exact mapping (the terms and the concepts are equivalent))
OMIM:607731
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1843173
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:Q07.8
Marin-Amat syndrome
ORPHA:101104
Clinical subtype
ICD-10:Q07.8
NTBT (narrower term maps to a broader term)
Non-secreting chemodectoma
ORPHA:101106
Clinical subtype
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_98772 with label: Spinocerebellar ataxia type 19/22
Spinocerebellar ataxia type 22
4.0
SCA23
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.
orphanet
ICD-10:G11.2
MeSH:C537201
OMIM:610245
UMLS:C1853250
Spinocerebellar ataxia type 23
ORPHA:101108
Disease
Validated
4.0
Validated
ICD-10:G11.2
NTBT (narrower term maps to a broader term)
MeSH:C537201
E (exact mapping (the terms and the concepts are equivalent))
OMIM:610245
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1853250
E (exact mapping (the terms and the concepts are equivalent))
SCA28
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.
orphanet
ICD-10:G11.1
MeSH:C537205
OMIM:610246
UMLS:C1853249
Spinocerebellar ataxia type 28
ORPHA:101109
Disease
Not yet validated
ICD-10:G11.1
NTBT (narrower term maps to a broader term)
MeSH:C537205
E (exact mapping (the terms and the concepts are equivalent))
OMIM:610246
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1853249
E (exact mapping (the terms and the concepts are equivalent))
20.0
SCA20
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.
orphanet
ICD-10:G11.2
MeSH:C537199
OMIM:608687
UMLS:C1837541
Spinocerebellar ataxia type 20
ORPHA:101110
Disease
Validated
20.0
Validated
ICD-10:G11.2
NTBT (narrower term maps to a broader term)
MeSH:C537199
E (exact mapping (the terms and the concepts are equivalent))
OMIM:608687
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1837541
E (exact mapping (the terms and the concepts are equivalent))
10.0
SCA25
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.
orphanet
ICD-10:G11.8
MeSH:C537202
OMIM:608703
UMLS:C1837518
Spinocerebellar ataxia type 25
ORPHA:101111
Disease
Validated
10.0
Validated
ICD-10:G11.8
NTBT (narrower term maps to a broader term)
MeSH:C537202
E (exact mapping (the terms and the concepts are equivalent))
OMIM:608703
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1837518
E (exact mapping (the terms and the concepts are equivalent))
1.0
SCA26
Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.
orphanet
ICD-10:G11.2
MeSH:C537203
OMIM:609306
UMLS:C1836395
Spinocerebellar ataxia type 26
ORPHA:101112
Disease
Validated
1.0
Validated
ICD-10:G11.2
NTBT (narrower term maps to a broader term)
MeSH:C537203
E (exact mapping (the terms and the concepts are equivalent))
OMIM:609306
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1836395
E (exact mapping (the terms and the concepts are equivalent))
50.0
Autosomal recessive Segawa syndrome
DYT5b
Tyrosine hydroxylase deficiency
Tyrosine hydroxylase-deficient dopa-responsive dystonia
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) to progressive infantile encephalopathy.
orphanet
ICD-10:G24.1
OMIM:605407
UMLS:C2673535
Autosomal recessive dopa-responsive dystonia
ORPHA:101150
Disease
Validated
50.0
Validated
ICD-10:G24.1
NTBT (narrower term maps to a broader term)
OMIM:605407
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C2673535
E (exact mapping (the terms and the concepts are equivalent))
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_98808 with label: Autosomal dominant dopa-responsive dystonia
Dystonia 14
APV/ADA, Fallot type
Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome
PVA/ADA, Fallot type
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.
orphanet
ICD-10:Q22.2
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
ORPHA:101206
Malformation syndrome
ICD-10:Q22.2
NTBT (narrower term maps to a broader term)
0.6
1.0
4.0
10.0
PCT
Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria (see this term). It is characterized by bullous photodermatitis.
orphanet
ICD-10:E80.1
MeSH:D017119
MedDRA:10036183
OMIM:176090
OMIM:176100
UMLS:C0162566
Porphyria cutanea tarda
ORPHA:101330
Disease
0.6
Validated
1.0
Not yet validated
4.0
Validated
10.0
Not yet validated
ICD-10:E80.1
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D017119
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10036183
E (exact mapping (the terms and the concepts are equivalent))
OMIM:176090
BTNT (broader term maps to a narrower term)
OMIM:176100
BTNT (broader term maps to a narrower term)
UMLS:C0162566
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:A77.1
African tick typhus
ORPHA:101334
Disease
ICD-10:A77.1
NTBT (narrower term maps to a broader term)
use http://www.orpha.net/ORDO/Orphanet_83313 with label: Boutonneuse fever
OBSOLETE: Indian tick typhus
use http://www.orpha.net/ORDO/Orphanet_83313 with label: Boutonneuse fever
OBSOLETE: Kenya tick typhus
use http://www.orpha.net/ORDO/Orphanet_83313 with label: Boutonneuse fever
OBSOLETE: Marseilles fever
use http://www.orpha.net/ORDO/Orphanet_83313 with label: Boutonneuse fever
OBSOLETE: Mediterranean spotted fever
Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.
orphanet
ICD-10:Q89.0
OMIM:271400
Familial isolated congenital asplenia
ORPHA:101351
Morphological anomaly
ICD-10:Q89.0
NTBT (narrower term maps to a broader term)
OMIM:271400
E (exact mapping (the terms and the concepts are equivalent))
2.0
Devriendt-Vandenberghe-Fryns syndrome
This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism.
orphanet
OMIM:601217
UMLS:C1832593
Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
ORPHA:1014
Disease
Validated
2.0
Validated
OMIM:601217
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1832593
E (exact mapping (the terms and the concepts are equivalent))
Rare urogenital disease
ORPHA:101433
Group of phenomes
Rare genetic ophthalmologic disease
Rare genetic eye disease
ORPHA:101435
Group of phenomes
Rare NSID
Rare non-syndromic intellectual disability is a rare, hereditary, neurologic disease characterized by early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits.
orphanet
Rare non-syndromic intellectual disability
ORPHA:101685
Disease
Xq22.3 microdeletion syndrome
The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.
orphanet
ICD-10:Q87.8
OMIM:150700
OMIM:308940
X-linked diffuse leiomyomatosis-Alport syndrome
ORPHA:1018
Disease
ICD-10:Q87.8
NTBT (narrower term maps to a broader term)
OMIM:150700
BTNT (broader term maps to a narrower term)
OMIM:308940
E (exact mapping (the terms and the concepts are equivalent))
This class is deprecated. The preferred class is http://www.orpha.net/ORDO/Orphanet_182050 with label: MYH9-related disease
Epstein syndrome
ICD-10:Q23.8
Anomaly of the mitral subvalvular apparatus
ORPHA:101932
Morphological anomaly
ICD-10:Q23.8
NTBT (narrower term maps to a broader term)
Genetic cardiac rhythm disease
ORPHA:101934
Group of phenomes
Rare gastroesophageal disease
ORPHA:101936
Group of phenomes
UMLS:C0030286
Rare pancreatic disease
ORPHA:101937
Group of phenomes
UMLS:C0030286
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0400923
Rare vascular liver disease
ORPHA:101938
Group of phenomes
UMLS:C0400923
E (exact mapping (the terms and the concepts are equivalent))
Rare parenchymal liver disease
ORPHA:101939
Group of phenomes
MedDRA:10019689
UMLS:C0851734
Rare metabolic liver disease
ORPHA:101940
Group of phenomes
MedDRA:10019689
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0851734
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0005424
UMLS:C0750952
Rare biliary tract disease
ORPHA:101941
Group of phenomes
UMLS:C0005424
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0750952
E (exact mapping (the terms and the concepts are equivalent))
Rare hepatic and biliary tract tumor
ORPHA:101943
Group of phenomes
UMLS:C0024115
Rare pulmonary disease
ORPHA:101944
Group of phenomes
UMLS:C0024115
E (exact mapping (the terms and the concepts are equivalent))
Rare bronchopulmonary tumor
ORPHA:101945
Group of phenomes
Rare acquired eye disease
ORPHA:101949
Group of phenomes
UMLS:C0015414
Rare eye tumor
ORPHA:101950
Group of phenomes
UMLS:C0015414
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0011849
UMLS:C0011860
Rare diabetes mellitus
ORPHA:101952
Group of phenomes
UMLS:C0011849
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0011860
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:E78.0
ICD-10:E78.1
ICD-10:E78.2
ICD-10:E78.3
ICD-10:E78.4
ICD-10:E78.5
ICD-10:E78.6
ICD-10:E78.8
ICD-10:E78.9
UMLS:C0242339
Rare dyslipidemia
ORPHA:101953
Group of phenomes
ICD-10:E78.0
BTNT (broader term maps to a narrower term)
ICD-10:E78.1
BTNT (broader term maps to a narrower term)
ICD-10:E78.2
BTNT (broader term maps to a narrower term)
ICD-10:E78.3
BTNT (broader term maps to a narrower term)
ICD-10:E78.4
BTNT (broader term maps to a narrower term)
ICD-10:E78.5
BTNT (broader term maps to a narrower term)
ICD-10:E78.6
BTNT (broader term maps to a narrower term)
ICD-10:E78.8
BTNT (broader term maps to a narrower term)
ICD-10:E78.9
BTNT (broader term maps to a narrower term)
UMLS:C0242339
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0001621
Rare adrenal disease
ORPHA:101954
Group of phenomes
UMLS:C0001621
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0040128
Rare thyroid disease
ORPHA:101955
Group of phenomes
UMLS:C0040128
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:E31.0
ICD-10:E31.1
ICD-10:E31.8
ICD-10:E31.9
Polyendocrinopathy
ORPHA:101956
Group of phenomes
ICD-10:E31.0
BTNT (broader term maps to a narrower term)
ICD-10:E31.1
BTNT (broader term maps to a narrower term)
ICD-10:E31.8
BTNT (broader term maps to a narrower term)
ICD-10:E31.9
BTNT (broader term maps to a narrower term)
ICD-10:E23.0
UMLS:C0020635
Pituitary deficiency
ORPHA:101957
Group of phenomes
ICD-10:E23.0
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0020635
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10052381
Primary adrenal insufficiency
ORPHA:101958
Group of phenomes
MedDRA:10052381
E (exact mapping (the terms and the concepts are equivalent))
0.4
14.0
CPAI
Chronic adrenocorticoid insufficiency
Chronic primary adrenal insufficiency (CPAI) is a chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.
orphanet
UMLS:C0001403
Chronic primary adrenal insufficiency
ORPHA:101959
Group of phenomes
0.4
Validated
14.0
Validated
UMLS:C0001403
E (exact mapping (the terms and the concepts are equivalent))
Genetic chronic primary adrenal insufficiency
ORPHA:101960
Group of phenomes
Acquired chronic primary adrenal insufficiency
ORPHA:101963
Group of phenomes
ICD-10:D81.0
ICD-10:D81.1
ICD-10:D81.2
ICD-10:D81.3
ICD-10:D81.4
ICD-10:D81.5
ICD-10:D81.6
ICD-10:D81.7
ICD-10:D81.8
ICD-10:D81.9
Combined T and B cell immunodeficiency
ORPHA:101972
Group of phenomes
ICD-10:D81.0
BTNT (broader term maps to a narrower term)
ICD-10:D81.1
BTNT (broader term maps to a narrower term)
ICD-10:D81.2
BTNT (broader term maps to a narrower term)
ICD-10:D81.3
BTNT (broader term maps to a narrower term)
ICD-10:D81.4
BTNT (broader term maps to a narrower term)
ICD-10:D81.5
BTNT (broader term maps to a narrower term)
ICD-10:D81.6
BTNT (broader term maps to a narrower term)
ICD-10:D81.7
BTNT (broader term maps to a narrower term)
ICD-10:D81.8
BTNT (broader term maps to a narrower term)
ICD-10:D81.9
BTNT (broader term maps to a narrower term)
ICD-10:D80.0
ICD-10:D80.1
ICD-10:D80.2
ICD-10:D80.3
ICD-10:D80.4
ICD-10:D80.5
ICD-10:D80.6
ICD-10:D80.7
ICD-10:D80.8
ICD-10:D80.9
Immunodeficiency predominantly affecting antibody production
ORPHA:101977
Group of phenomes
ICD-10:D80.0
BTNT (broader term maps to a narrower term)
ICD-10:D80.1
BTNT (broader term maps to a narrower term)
ICD-10:D80.2
BTNT (broader term maps to a narrower term)
ICD-10:D80.3
BTNT (broader term maps to a narrower term)
ICD-10:D80.4
BTNT (broader term maps to a narrower term)
ICD-10:D80.5
BTNT (broader term maps to a narrower term)
ICD-10:D80.6
BTNT (broader term maps to a narrower term)
ICD-10:D80.7
BTNT (broader term maps to a narrower term)
ICD-10:D80.8
BTNT (broader term maps to a narrower term)
ICD-10:D80.9
BTNT (broader term maps to a narrower term)
use http://www.orpha.net/ORDO/Orphanet_101977 with label: Immunodeficiency predominantly affecting antibody production
OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells
use http://www.orpha.net/ORDO/Orphanet_331232 with label: Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells
use http://www.orpha.net/ORDO/Orphanet_331240 with label: Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells
Quantitative and/or qualitative congenital phagocyte defect
ORPHA:101985
Group of phenomes
ICD-10:D70
Constitutional neutropenia
ORPHA:101987
Group of phenomes
ICD-10:D70
NTBT (narrower term maps to a broader term)
Primary immunodeficiency due to a defect in innate immunity
ORPHA:101988
Group of phenomes
ICD-10:D84.1
Immunodeficiency due to a complement cascade protein anomaly
ORPHA:101992
Group of phenomes
ICD-10:D84.1
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:E85.0
MedDRA:10034533
UMLS:C0015974
Periodic fever syndrome
ORPHA:101995
Group of phenomes
ICD-10:E85.0
NTBT (narrower term maps to a broader term)
MedDRA:10034533
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0015974
E (exact mapping (the terms and the concepts are equivalent))
5.6
4.69
1.38
1.79
1.1
2.6
4.9
6.8
1.33
3.6
2.0
1.84
MedDRA:10064859
UMLS:C0398686
Primary immunodeficiency
ORPHA:101997
Group of phenomes
Not yet validated
5.6
Not yet validated
4.69
Not yet validated
1.38
Not yet validated
1.79
Not yet validated
1.1
Not yet validated
2.6
Not yet validated
4.9
Not yet validated
6.8
Not yet validated
1.33
Not yet validated
3.6
Not yet validated
2.0
Not yet validated
1.84
Not yet validated
MedDRA:10064859
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0398686
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:G40.0
ICD-10:G40.1
ICD-10:G40.2
ICD-10:G40.3
ICD-10:G40.4
ICD-10:G40.5
ICD-10:G40.6
ICD-10:G40.7
ICD-10:G40.8
ICD-10:G40.9
UMLS:C0014544
Rare epilepsy
ORPHA:101998
Group of phenomes
ICD-10:G40.0
NTBT (narrower term maps to a broader term)
ICD-10:G40.1
NTBT (narrower term maps to a broader term)
ICD-10:G40.2
NTBT (narrower term maps to a broader term)
ICD-10:G40.3
NTBT (narrower term maps to a broader term)
ICD-10:G40.4
NTBT (narrower term maps to a broader term)
ICD-10:G40.5
NTBT (narrower term maps to a broader term)
ICD-10:G40.6
NTBT (narrower term maps to a broader term)
ICD-10:G40.7
NTBT (narrower term maps to a broader term)
ICD-10:G40.8
NTBT (narrower term maps to a broader term)
ICD-10:G40.9
NTBT (narrower term maps to a broader term)
UMLS:C0014544
E (exact mapping (the terms and the concepts are equivalent))
0.7
0.11
0.6
1.8
2.1
3.7
3.5
2.3
1.9
3.4
4.9
10.3
4.4
MSA
Multisystem atrophy
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.
orphanet
ICD-10:G90.3
MeSH:D019578
MedDRA:10064060
OMIM:146500
UMLS:C0393571
Multiple system atrophy
ORPHA:102
Disease
0.7
Not yet validated
0.11
Not yet validated
0.6
Not yet validated
1.8
Validated
2.1
Not yet validated
3.7
Not yet validated
3.5
Validated
2.3
Not yet validated
1.9
Not yet validated
3.4
Not yet validated
4.9
Not yet validated
10.3
Validated
4.4
Not yet validated
ICD-10:G90.3
E (exact mapping (the terms and the concepts are equivalent))
MeSH:D019578
E (exact mapping (the terms and the concepts are equivalent))
MedDRA:10064060
E (exact mapping (the terms and the concepts are equivalent))
OMIM:146500
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C0393571
E (exact mapping (the terms and the concepts are equivalent))
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.
orphanet
ICD-10:G30.0
OMIM:104300
OMIM:104310
OMIM:602096
OMIM:605055
OMIM:605526
OMIM:606187
OMIM:606889
OMIM:607116
OMIM:607822
OMIM:609636
OMIM:609790
OMIM:611073
OMIM:611152
OMIM:611154
OMIM:611155
UMLS:C0276496
Early-onset autosomal dominant Alzheimer disease
ORPHA:1020
Disease
Not yet validated
ICD-10:G30.0
NTBT (narrower term maps to a broader term)
OMIM:104300
NTBT (narrower term maps to a broader term)
OMIM:104310
BTNT (broader term maps to a narrower term)
OMIM:602096
BTNT (broader term maps to a narrower term)
OMIM:605055
BTNT (broader term maps to a narrower term)
OMIM:605526
BTNT (broader term maps to a narrower term)
OMIM:606187
BTNT (broader term maps to a narrower term)
OMIM:606889
BTNT (broader term maps to a narrower term)
OMIM:607116
BTNT (broader term maps to a narrower term)
OMIM:607822
BTNT (broader term maps to a narrower term)
OMIM:609636
BTNT (broader term maps to a narrower term)
OMIM:609790
BTNT (broader term maps to a narrower term)
OMIM:611073
BTNT (broader term maps to a narrower term)
OMIM:611152
BTNT (broader term maps to a narrower term)
OMIM:611154
BTNT (broader term maps to a narrower term)
OMIM:611155
BTNT (broader term maps to a narrower term)
UMLS:C0276496
E (exact mapping (the terms and the concepts are equivalent))
Medullar disease
ORPHA:102000
Group of phenomes
Rare ataxia
ORPHA:102002
Group of phenomes
UMLS:C0026650
Rare movement disorder
ORPHA:102003
Group of phenomes
UMLS:C0026650
E (exact mapping (the terms and the concepts are equivalent))
Brain inflammatory disease
ORPHA:102005
Group of phenomes
Neurovascular malformation
ORPHA:102006
Group of phenomes
Lissencephaly type 1
ICD-10:Q04.3
UMLS:C0431375
UMLS:C1843916
Classic lissencephaly
ORPHA:102009
Group of phenomes
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
UMLS:C0431375
E (exact mapping (the terms and the concepts are equivalent))
UMLS:C1843916
E (exact mapping (the terms and the concepts are equivalent))
ICD-10:Q04.3
Other syndrome with lissencephaly as a major feature
ORPHA:102010
Group of phenomes
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)
ICD-10:Q04.3
UMLS:C1969029
Lissencephaly type 3
ORPHA:102011
Group of phenomes
ICD-10:Q04.3
NTBT (narrower term maps to a broader term)