929
218
13
http://www.orpha.net/ORDO/Orphanet_119763
synuclein alpha
'synuclein alpha' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Hereditary late-onset Parkinson disease'
'synuclein alpha' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Hereditary late-onset Parkinson disease'
http://www.orpha.net/ORDO/Orphanet_118437
ryanodine receptor 1
'ryanodine receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive centronuclear myopathy'
http://www.orpha.net/ORDO/Orphanet_309152
GM2 gangliosidosis
'GM2 gangliosidosis' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 5.0f)
http://www.orpha.net/ORDO/Orphanet_156728
Spondyloepimetaphyseal dysplasia, matrilin-3 type
'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 1.0f)
'Spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 5.0f)
http://www.orpha.net/ORDO/Orphanet_323464
zinc finger protein 141
'zinc finger protein 141' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A, bilateral'
'zinc finger protein 141' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A'
http://www.orpha.net/ORDO/Orphanet_118460
sterile alpha motif domain containing 9
'sterile alpha motif domain containing 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'MIRAGE syndrome'
http://www.orpha.net/ORDO/Orphanet_119792
SRY-box 9
'SRY-box 9' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
'SRY-box 9' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
http://www.orpha.net/ORDO/Orphanet_46484
Oligodendroglial tumor
'Oligodendroglial tumor' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.24f)
http://www.orpha.net/ORDO/Orphanet_119781
SOS Ras/Rac guanine nucleotide exchange factor 1
'SOS Ras/Rac guanine nucleotide exchange factor 1' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Noonan syndrome'
'SOS Ras/Rac guanine nucleotide exchange factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary gingival fibromatosis'
'SOS Ras/Rac guanine nucleotide exchange factor 1' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Noonan syndrome'
'SOS Ras/Rac guanine nucleotide exchange factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary gingival fibromatosis'
http://www.orpha.net/ORDO/Orphanet_69126
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
'Pyogenic arthritis-pyoderma gangrenosum-acne syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324942
http://www.orpha.net/ORDO/Orphanet_118443
ryanodine receptor 2
'ryanodine receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
'ryanodine receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
http://www.orpha.net/ORDO/Orphanet_119771
small nuclear ribonucleoprotein polypeptide N
'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to translocation'
'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to imprinting mutation'
'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to translocation'
'small nuclear ribonucleoprotein polypeptide N' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to imprinting mutation'
http://www.orpha.net/ORDO/Orphanet_83473
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
'Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature'
'Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature'
'Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature'
'Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature'
http://www.orpha.net/ORDO/Orphanet_95487
Atypical arterial duct
'Atypical arterial duct' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_431320
Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
'Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' SubClassOf 'Hereditary motor and sensory neuropathy'
'Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' SubClassOf 'Charcot-Marie-Tooth disease'
http://www.orpha.net/ORDO/Orphanet_119720
secreted LY6/PLAUR domain containing 1
'secreted LY6/PLAUR domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary palmoplantar keratoderma, Gamborg-Nielsen type'
http://www.orpha.net/ORDO/Orphanet_95449
Congenital aortic valve insufficiency
'Congenital aortic valve insufficiency' SubClassOf 'disease'
'Congenital aortic valve insufficiency' SubClassOf 'morphological anomaly'
http://www.orpha.net/ORDO/Orphanet_1396
Cerebrorenodigital syndrome
'Cerebrorenodigital syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Cerebrorenodigital syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_166119
Isolated osteopoikilosis
'Isolated osteopoikilosis' SubClassOf 'has_AgeOfOnset' some 'All ages'
'Isolated osteopoikilosis' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Isolated osteopoikilosis' SubClassOf 'has_AgeOfOnset' some 'Adult'
'Isolated osteopoikilosis' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
http://www.orpha.net/ORDO/Orphanet_493592
TATA-box binding protein associated factor, RNA polymerase I subunit A
'TATA-box binding protein associated factor, RNA polymerase I subunit A' SubClassOf 'has_chromosomal location' value "1q41"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_2633
Mesomelic dwarfism, Nievergelt type
'Mesomelic dwarfism, Nievergelt type' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Mesomelic dwarfism, Nievergelt type' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_166100
Stickler syndrome type 3
'Stickler syndrome type 3' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Stickler syndrome type 3' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_2639
Fibular aplasia-complex brachydactyly syndrome
'Fibular aplasia-complex brachydactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Fibular aplasia-complex brachydactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_1328
Camurati-Engelmann disease
'Camurati-Engelmann disease' SubClassOf 'has_AgeOfOnset' some 'All ages'
'Camurati-Engelmann disease' SubClassOf 'has_AgeOfOnset' some 'Adult'
'Camurati-Engelmann disease' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Camurati-Engelmann disease' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
http://www.orpha.net/ORDO/Orphanet_118498
sodium voltage-gated channel beta subunit 1
'sodium voltage-gated channel beta subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus'
'sodium voltage-gated channel beta subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
'sodium voltage-gated channel beta subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus'
'sodium voltage-gated channel beta subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
http://www.orpha.net/ORDO/Orphanet_118489
sodium voltage-gated channel alpha subunit 1
'sodium voltage-gated channel alpha subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus'
'sodium voltage-gated channel alpha subunit 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus'
http://www.orpha.net/ORDO/Orphanet_33226
Waldenström macroglobulinemia
'Waldenström macroglobulinemia' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 1.0f)
'Waldenström macroglobulinemia' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-9 / 100 000')
http://www.orpha.net/ORDO/Orphanet_2613
Nail-patella-like renal disease
'Nail-patella-like renal disease' SubClassOf 'has_inheritance' some 'autosomal recessive'
'Nail-patella-like renal disease' SubClassOf 'has_inheritance' some 'autosomal dominant'
http://www.orpha.net/ORDO/Orphanet_420702
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
'Autosomal recessive severe congenital neutropenia due to CSF3R deficiency' SubClassOf 'part_of' some 'Severe congenital neutropenia'
'Autosomal recessive severe congenital neutropenia due to CSF3R deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_439849
http://www.orpha.net/ORDO/Orphanet_120613
Zic family member 3
'Zic family member 3' SubClassOf 'Major susceptibility factor in' some 'Situs ambiguus'
'Zic family member 3' SubClassOf 'Major susceptibility factor in' some 'Isolated congenitally uncorrected transposition of the great arteries'
'Zic family member 3' SubClassOf 'Major susceptibility factor in' some 'Situs ambiguus'
'Zic family member 3' SubClassOf 'Major susceptibility factor in' some 'Isolated congenitally uncorrected transposition of the great arteries'
http://www.orpha.net/ORDO/Orphanet_121930
FSHD region gene 1
'FSHD region gene 1' SubClassOf 'Candidate gene tested in' some 'Facioscapulohumeral dystrophy'
'FSHD region gene 1' SubClassOf 'Candidate gene tested in' some 'Facioscapulohumeral dystrophy'
http://www.orpha.net/ORDO/Orphanet_121993
gamma-aminobutyric acid type A receptor gamma2 subunit
'gamma-aminobutyric acid type A receptor gamma2 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rolandic epilepsy'
'gamma-aminobutyric acid type A receptor gamma2 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus'
'gamma-aminobutyric acid type A receptor gamma2 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rolandic epilepsy'
'gamma-aminobutyric acid type A receptor gamma2 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus'
http://www.orpha.net/ORDO/Orphanet_121991
gamma-aminobutyric acid type A receptor delta subunit
'gamma-aminobutyric acid type A receptor delta subunit' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus'
'gamma-aminobutyric acid type A receptor delta subunit' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus'
http://www.orpha.net/ORDO/Orphanet_118347
ring finger protein 139
'ring finger protein 139' SubClassOf 'Part of a fusion gene in' some 'Hereditary clear cell renal cell carcinoma'
'ring finger protein 139' SubClassOf 'Part of a fusion gene in' some 'Hereditary clear cell renal cell carcinoma'
http://www.orpha.net/ORDO/Orphanet_444736
NLR family CARD domain containing 4
'NLR family CARD domain containing 4' SubClassOf 'Candidate gene tested in' some 'CINCA syndrome'
'NLR family CARD domain containing 4' SubClassOf 'Candidate gene tested in' some 'CINCA syndrome'
http://www.orpha.net/ORDO/Orphanet_276429
Hypnic headache
'Hypnic headache' SubClassOf 'has_AgeOfOnset' some 'Elderly'
'Hypnic headache' SubClassOf 'has_AgeOfOnset' some 'Childhood'
http://www.orpha.net/ORDO/Orphanet_264450
Trisomy 8p
'Trisomy 8p' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Trisomy 8p' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_252455
NADH:ubiquinone oxidoreductase subunit A2
'NADH:ubiquinone oxidoreductase subunit A2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Cystic leukoencephalopathy without megalencephaly'
http://www.orpha.net/ORDO/Orphanet_360504
beta-transducin repeat containing E3 ubiquitin protein ligase
'beta-transducin repeat containing E3 ubiquitin protein ligase' SubClassOf 'Candidate gene tested in' some 'Split hand-split foot malformation'
'beta-transducin repeat containing E3 ubiquitin protein ligase' SubClassOf 'Candidate gene tested in' some 'Split hand-split foot malformation'
http://www.orpha.net/ORDO/Orphanet_180284
Benign ductal tumor of breast
'Benign ductal tumor of breast' SubClassOf 'disease'
'Benign ductal tumor of breast' SubClassOf 'part_of' some 'Rare breast tumor'
http://www.orpha.net/ORDO/Orphanet_2598
Mitochondrial myopathy and sideroblastic anemia
'Mitochondrial myopathy and sideroblastic anemia' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_1267
Botulism
'Botulism' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'France') and ('has_annual_incidence_average_value' value 0.15f)
'Botulism' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'France') and ('has_annual_incidence_average_value' value 0.255f)
http://www.orpha.net/ORDO/Orphanet_1272
Fine-Lubinsky syndrome
'Fine-Lubinsky syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 9.0f)
'Fine-Lubinsky syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 18.0f)
http://www.orpha.net/ORDO/Orphanet_469986
B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB
'B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_493604
IQ motif containing E
'IQ motif containing E' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A, bilateral'
'IQ motif containing E' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A'
http://www.orpha.net/ORDO/Orphanet_420699
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
'Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency' SubClassOf 'part_of' some 'Severe congenital neutropenia'
'Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_439849
http://www.orpha.net/ORDO/Orphanet_166035
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
'Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
'Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Multiple metaphyseal dysplasia'
'Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'disease'
'Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
'Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Dysostosis with brachydactyly with extraskeletal manifestations'
'Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 12.0f)
'Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
'Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'part_of' some 'Retinal dystrophy'
'Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'malformation syndrome'
http://www.orpha.net/ORDO/Orphanet_94065
15q24 microdeletion syndrome
'15q24 microdeletion syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
'15q24 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
'15q24 microdeletion syndrome' SubClassOf 'malformation syndrome'
'15q24 microdeletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'15q24 microdeletion syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_500163
'15q24 microdeletion syndrome' SubClassOf 'etiological subtype'
http://www.orpha.net/ORDO/Orphanet_469974
axin 1
'axin 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Adult hepatocellular carcinoma'
'axin 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Adult hepatocellular carcinoma'
http://www.orpha.net/ORDO/Orphanet_2564
Tetramelic monodactyly
'Tetramelic monodactyly' SubClassOf 'has_inheritance' some 'autosomal dominant'
http://www.orpha.net/ORDO/Orphanet_94088
Hereditary renal hypouricemia
'Hereditary renal hypouricemia' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Hereditary renal hypouricemia' SubClassOf 'has_AgeOfOnset' some 'Adult'
'Hereditary renal hypouricemia' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
http://www.orpha.net/ORDO/Orphanet_2582
Myalgia-eosinophilia syndrome associated with tryptophan
'Myalgia-eosinophilia syndrome associated with tryptophan' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some 'Unknown_epidemiological_range')
http://www.orpha.net/ORDO/Orphanet_2580
Shoulder and girdle defects-familial intellectual disability syndrome
'Shoulder and girdle defects-familial intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_1256
Blepharophimosis-radioulnar synostosis syndrome
'Blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye'
'Blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'malformation syndrome'
'Blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'part_of' some 'Rare disorder with ptosis'
'Blepharophimosis-radioulnar synostosis syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_2510
Micro syndrome
'Micro syndrome' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature'
'Micro syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature'
'Micro syndrome' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature'
http://www.orpha.net/ORDO/Orphanet_324977
Proteasome disability syndrome
'Proteasome disability syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
'Proteasome disability syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324953
http://www.orpha.net/ORDO/Orphanet_2518
Autosomal recessive chorioretinopathy-microcephaly syndrome
'Autosomal recessive chorioretinopathy-microcephaly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_324964
Chronic recurrent multifocal osteomyelitis
'Chronic recurrent multifocal osteomyelitis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324942
http://www.orpha.net/ORDO/Orphanet_120693
collagen type XI alpha 2 chain
'collagen type XI alpha 2 chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'collagen type XI alpha 2 chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'collagen type XI alpha 2 chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'collagen type XI alpha 2 chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_2549
Oculoauriculovertebral spectrum with radial defects
'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Oculoauriculovertebral spectrum with radial defects' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_120681
cochlin
'cochlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'cochlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_324933
Mixed autoinflammatory and autoimmune syndrome
'Mixed autoinflammatory and autoimmune syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_319719
http://www.orpha.net/ORDO/Orphanet_324924
Hereditary periodic fever syndrome
'Hereditary periodic fever syndrome' SubClassOf http://www.orpha.net/ORDO/Orphanet_324939
http://www.orpha.net/ORDO/Orphanet_468699
SLC39A8-CDG
'SLC39A8-CDG' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'SLC39A8-CDG' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_481662
Familial Chilblain lupus
'Familial Chilblain lupus' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
http://www.orpha.net/ORDO/Orphanet_481665
UPS18 deficiency
'UPS18 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
http://www.orpha.net/ORDO/Orphanet_2823
Paraplegia-brachydactyly-cone-shaped epiphysis syndrome
'Paraplegia-brachydactyly-cone-shaped epiphysis syndrome' SubClassOf 'has_inheritance' some 'Inheritance with unknown mechanism'
'Paraplegia-brachydactyly-cone-shaped epiphysis syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Paraplegia-brachydactyly-cone-shaped epiphysis syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Paraplegia-brachydactyly-cone-shaped epiphysis syndrome' SubClassOf 'part_of' some 'Rare neurologic disease'
'Paraplegia-brachydactyly-cone-shaped epiphysis syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Paraplegia-brachydactyly-cone-shaped epiphysis syndrome' SubClassOf 'malformation syndrome'
'Paraplegia-brachydactyly-cone-shaped epiphysis syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 6.0f)
'Paraplegia-brachydactyly-cone-shaped epiphysis syndrome' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_118643
surfactant protein C
'surfactant protein C' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
'surfactant protein C' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
http://www.orpha.net/ORDO/Orphanet_300573
Polymicrogyria due to TUBB2B mutation
'Polymicrogyria due to TUBB2B mutation' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature'
'Polymicrogyria due to TUBB2B mutation' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature'
'Polymicrogyria due to TUBB2B mutation' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature'
http://www.orpha.net/ORDO/Orphanet_83648
X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome
'X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome' SubClassOf 'has_inheritance' some 'x-linked dominant'
'X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome' SubClassOf 'has_inheritance' some 'x-linked recessive'
http://www.orpha.net/ORDO/Orphanet_118633
surfactant protein A1
'surfactant protein A1' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
'surfactant protein A1' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
http://www.orpha.net/ORDO/Orphanet_119953
T-box 1
'T-box 1' SubClassOf 'Candidate gene tested in' some 'Tetralogy of Fallot'
http://www.orpha.net/ORDO/Orphanet_120932
cytochrome b5 reductase 3
'cytochrome b5 reductase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary methemoglobinemia'
'cytochrome b5 reductase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary methemoglobinemia'
http://www.orpha.net/ORDO/Orphanet_120929
cytochrome b5 type A
'cytochrome b5 type A' SubClassOf 'Candidate gene tested in' some 'Hereditary methemoglobinemia'
'cytochrome b5 type A' SubClassOf 'Candidate gene tested in' some 'Hereditary methemoglobinemia'
http://www.orpha.net/ORDO/Orphanet_119938
tubulin folding cofactor E
'tubulin folding cofactor E' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_496756
http://www.orpha.net/ORDO/Orphanet_238459
SLC35A1-CDG
'SLC35A1-CDG' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 1.0f)
'SLC35A1-CDG' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 3.0f)
http://www.orpha.net/ORDO/Orphanet_1581
Non-distal monosomy 10q
'Non-distal monosomy 10q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Non-distal monosomy 10q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_408692
sarcolemma associated protein
'sarcolemma associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
'sarcolemma associated protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
http://www.orpha.net/ORDO/Orphanet_178389
Osteopetrosis-hypogammaglobulinemia syndrome
'Osteopetrosis-hypogammaglobulinemia syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Osteopetrosis-hypogammaglobulinemia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_141074
External auditory canal aplasia/hypoplasia
'External auditory canal aplasia/hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_201114
myeloid differentiation primary response 88
'myeloid differentiation primary response 88' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Waldenström macroglobulinemia'
'myeloid differentiation primary response 88' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Waldenström macroglobulinemia'
http://www.orpha.net/ORDO/Orphanet_470676
RAN guanine nucleotide release factor
'RAN guanine nucleotide release factor' SubClassOf 'Candidate gene tested in' some 'Brugada syndrome'
'RAN guanine nucleotide release factor' SubClassOf 'Candidate gene tested in' some 'Brugada syndrome'
http://www.orpha.net/ORDO/Orphanet_1530
Craniosynostosis-cataract syndrome
'Craniosynostosis-cataract syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_119862
sushi repeat containing protein, X-linked 2
'sushi repeat containing protein, X-linked 2' SubClassOf 'Candidate gene tested in' some 'Rolandic epilepsy'
'sushi repeat containing protein, X-linked 2' SubClassOf 'Candidate gene tested in' some 'Rolandic epilepsy'
http://www.orpha.net/ORDO/Orphanet_119865
sex determining region Y
'sex determining region Y' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
'sex determining region Y' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
http://www.orpha.net/ORDO/Orphanet_118539
sodium channel epithelial 1 gamma subunit
'sodium channel epithelial 1 gamma subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic bronchiectasis'
'sodium channel epithelial 1 gamma subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic bronchiectasis'
http://www.orpha.net/ORDO/Orphanet_118536
sodium channel epithelial 1 beta subunit
'sodium channel epithelial 1 beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic bronchiectasis'
'sodium channel epithelial 1 beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic bronchiectasis'
http://www.orpha.net/ORDO/Orphanet_118532
sodium channel epithelial 1 alpha subunit
'sodium channel epithelial 1 alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic bronchiectasis'
'sodium channel epithelial 1 alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic bronchiectasis'
http://www.orpha.net/ORDO/Orphanet_118525
sodium voltage-gated channel alpha subunit 9
'sodium voltage-gated channel alpha subunit 9' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus'
'sodium voltage-gated channel alpha subunit 9' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Paroxysmal extreme pain disorder'
'sodium voltage-gated channel alpha subunit 9' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus'
'sodium voltage-gated channel alpha subunit 9' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Paroxysmal extreme pain disorder'
http://www.orpha.net/ORDO/Orphanet_309025
Mevalonate kinase deficiency
'Mevalonate kinase deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 300.0f)
'Mevalonate kinase deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some 'Unknown_epidemiological_range')
http://www.orpha.net/ORDO/Orphanet_325976
sodium voltage-gated channel alpha subunit 10
'sodium voltage-gated channel alpha subunit 10' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome'
'sodium voltage-gated channel alpha subunit 10' SubClassOf 'Candidate gene tested in' some 'Paroxysmal extreme pain disorder'
'sodium voltage-gated channel alpha subunit 10' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome'
'sodium voltage-gated channel alpha subunit 10' SubClassOf 'Candidate gene tested in' some 'Paroxysmal extreme pain disorder'
http://www.orpha.net/ORDO/Orphanet_119896
SUFU negative regulator of hedgehog signaling
'SUFU negative regulator of hedgehog signaling' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acrocallosal syndrome'
http://www.orpha.net/ORDO/Orphanet_120881
catenin beta 1
'catenin beta 1' SubClassOf 'Candidate gene tested in' some 'Adult hepatocellular carcinoma'
'catenin beta 1' SubClassOf 'Candidate gene tested in' some 'Pediatric hepatocellular carcinoma'
'catenin beta 1' SubClassOf 'Candidate gene tested in' some 'Adult hepatocellular carcinoma'
'catenin beta 1' SubClassOf 'Candidate gene tested in' some 'Pediatric hepatocellular carcinoma'
http://www.orpha.net/ORDO/Orphanet_420549
pancreatic lipase
'pancreatic lipase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pancreatic colipase deficiency'
'pancreatic lipase' SubClassOf 'gene with protein product'
'pancreatic lipase' SubClassOf 'has_chromosomal location' value "10q25.3"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_444522
TRAF3 interacting protein 1
'TRAF3 interacting protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Short rib-polydactyly syndrome, Majewski type'
http://www.orpha.net/ORDO/Orphanet_407527
myosin IC
'myosin IC' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'myosin IC' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_118513
sodium voltage-gated channel alpha subunit 5
'sodium voltage-gated channel alpha subunit 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
'sodium voltage-gated channel alpha subunit 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
http://www.orpha.net/ORDO/Orphanet_118500
sodium voltage-gated channel alpha subunit 2
'sodium voltage-gated channel alpha subunit 2' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus'
'sodium voltage-gated channel alpha subunit 2' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus'
http://www.orpha.net/ORDO/Orphanet_444463
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
'Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
http://www.orpha.net/ORDO/Orphanet_240651
G protein signaling modulator 2
'G protein signaling modulator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'G protein signaling modulator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_251312
Overlapping connective tissue disease
'Overlapping connective tissue disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_280373
http://www.orpha.net/ORDO/Orphanet_251304
Infantile onset panniculitis with uveitis and systemic granulomatosis
'Infantile onset panniculitis with uveitis and systemic granulomatosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324950
http://www.orpha.net/ORDO/Orphanet_251307
Idiopathic recurrent pericarditis
'Idiopathic recurrent pericarditis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324953
http://www.orpha.net/ORDO/Orphanet_2792
Otofaciocervical syndrome
'Otofaciocervical syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Otofaciocervical syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_201089
epidermal growth factor
'epidermal growth factor' SubClassOf 'Major susceptibility factor in' some 'Adult hepatocellular carcinoma'
'epidermal growth factor' SubClassOf 'Major susceptibility factor in' some 'Adult hepatocellular carcinoma'
http://www.orpha.net/ORDO/Orphanet_1467
Cogan syndrome
'Cogan syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280369
http://www.orpha.net/ORDO/Orphanet_1486
Lethal congenital contracture syndrome type 1
'Lethal congenital contracture syndrome type 1' SubClassOf ('present_in' some 'Finland') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 3.96f)
http://www.orpha.net/ORDO/Orphanet_1493
Vici syndrome
'Vici syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature'
'Vici syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature'
http://www.orpha.net/ORDO/Orphanet_251332
Unexplained long-lasting fever/inflammatory syndrome
'Unexplained long-lasting fever/inflammatory syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
http://www.orpha.net/ORDO/Orphanet_1492
Corpus callosum agenesis-double urinary collecting system syndrome
'Corpus callosum agenesis-double urinary collecting system syndrome' SubClassOf 'malformation syndrome'
'Corpus callosum agenesis-double urinary collecting system syndrome' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature'
'Corpus callosum agenesis-double urinary collecting system syndrome' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_251328
Unclassified vasculitis
'Unclassified vasculitis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280369
http://www.orpha.net/ORDO/Orphanet_2754
Joubert syndrome with orofaciodigital defect
'Joubert syndrome with orofaciodigital defect' SubClassOf 'disease'
'Joubert syndrome with orofaciodigital defect' SubClassOf 'malformation syndrome'
http://www.orpha.net/ORDO/Orphanet_1450
Ring chromosome 8 syndrome
'Ring chromosome 8 syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Ring chromosome 8 syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Ring chromosome 8 syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 8.0f)
http://www.orpha.net/ORDO/Orphanet_2785
Osteopetrosis with renal tubular acidosis
'Osteopetrosis with renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Osteopetrosis with renal tubular acidosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_443162
NDE1-related microhydranencephaly
'NDE1-related microhydranencephaly' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature'
'NDE1-related microhydranencephaly' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature'
'NDE1-related microhydranencephaly' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature'
http://www.orpha.net/ORDO/Orphanet_2719
Oculocerebral hypopigmentation syndrome, Cross type
'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 14.0f)
http://www.orpha.net/ORDO/Orphanet_2716
Oculo-skeletal-renal syndrome
'Oculo-skeletal-renal syndrome' SubClassOf 'malformation syndrome'
'Oculo-skeletal-renal syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Oculo-skeletal-renal syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Oculo-skeletal-renal syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation'
'Oculo-skeletal-renal syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 1.0f)
'Oculo-skeletal-renal syndrome' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_479128
gingival fibromatosis, hereditary, 2
'gingival fibromatosis, hereditary, 2' SubClassOf 'Candidate gene tested in' some 'Hereditary gingival fibromatosis'
'gingival fibromatosis, hereditary, 2' SubClassOf 'Candidate gene tested in' some 'Hereditary gingival fibromatosis'
http://www.orpha.net/ORDO/Orphanet_397692
Hereditary isolated aplastic anemia
'Hereditary isolated aplastic anemia' SubClassOf 'has_inheritance' some 'autosomal dominant'
http://www.orpha.net/ORDO/Orphanet_141214
Isolated congenital syngnathia
'Isolated congenital syngnathia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_98920
Spinal muscular atrophy with respiratory distress type 1
'Spinal muscular atrophy with respiratory distress type 1' SubClassOf 'has_AgeOfOnset' some 'Childhood'
http://www.orpha.net/ORDO/Orphanet_118885
ATPase phospholipid transporting 8B1
'ATPase phospholipid transporting 8B1' SubClassOf 'Major susceptibility factor in' some 'Intrahepatic cholestasis of pregnancy'
'ATPase phospholipid transporting 8B1' SubClassOf 'Major susceptibility factor in' some 'Intrahepatic cholestasis of pregnancy'
http://www.orpha.net/ORDO/Orphanet_285081
VPS35, retromer complex component
'VPS35, retromer complex component' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary late-onset Parkinson disease'
'VPS35, retromer complex component' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary late-onset Parkinson disease'
http://www.orpha.net/ORDO/Orphanet_86920
Dermatopathia pigmentosa reticularis
'Dermatopathia pigmentosa reticularis' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Dermatopathia pigmentosa reticularis' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 20.0f)
'Dermatopathia pigmentosa reticularis' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Dermatopathia pigmentosa reticularis' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_86911
Epilepsy with myoclonic absences
'Epilepsy with myoclonic absences' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Epilepsy with myoclonic absences' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
'Epilepsy with myoclonic absences' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_2199
Epidermolytic palmoplantar keratoderma
'Epidermolytic palmoplantar keratoderma' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Epidermolytic palmoplantar keratoderma' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_118821
solute carrier family 26 member 4
'solute carrier family 26 member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'solute carrier family 26 member 4' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Athyreosis'
'solute carrier family 26 member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'solute carrier family 26 member 4' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Athyreosis'
http://www.orpha.net/ORDO/Orphanet_285068
eukaryotic translation initiation factor 4 gamma 1
'eukaryotic translation initiation factor 4 gamma 1' SubClassOf 'Candidate gene tested in' some 'Hereditary late-onset Parkinson disease'
'eukaryotic translation initiation factor 4 gamma 1' SubClassOf 'Candidate gene tested in' some 'Hereditary late-onset Parkinson disease'
http://www.orpha.net/ORDO/Orphanet_2156
Hirsutism-skeletal dysplasia-intellectual disability syndrome
'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'malformation syndrome'
'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 1.0f)
'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_2151
Hirschsprung disease-ganglioneuroblastoma syndrome
'Hirschsprung disease-ganglioneuroblastoma syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_2176
Infantile systemic hyalinosis
'Infantile systemic hyalinosis' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Infantile systemic hyalinosis' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Infantile systemic hyalinosis' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
http://www.orpha.net/ORDO/Orphanet_477022
ubiquitin B
'ubiquitin B' SubClassOf 'Candidate gene tested in' some 'Bifid uvula'
'ubiquitin B' SubClassOf 'Candidate gene tested in' some 'Bifid uvula'
http://www.orpha.net/ORDO/Orphanet_2257
Primary pulmonary hypoplasia
'Primary pulmonary hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_251636
Ependymoma
'Ependymoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Europe') and ('has_annual_incidence_average_value' value 0.2f)
'Ependymoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Europe') and ('has_annual_incidence_average_value' value 0.16f)
http://www.orpha.net/ORDO/Orphanet_251651
Oligoastrocytic tumor
'Oligoastrocytic tumor' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.19f)
http://www.orpha.net/ORDO/Orphanet_2216
Maternal hyperthermia induced birth defects
'Maternal hyperthermia induced birth defects' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Maternal hyperthermia induced birth defects' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_239943
TBC1 domain family member 24
'TBC1 domain family member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'TBC1 domain family member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'TBC1 domain family member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'TBC1 domain family member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_239955
WD repeat domain 35
'WD repeat domain 35' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Short rib-polydactyly syndrome type 5'
http://www.orpha.net/ORDO/Orphanet_251612
Pilocytic astrocytoma
'Pilocytic astrocytoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.36f)
http://www.orpha.net/ORDO/Orphanet_251630
Anaplastic oligodendroglioma
'Anaplastic oligodendroglioma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.11f)
http://www.orpha.net/ORDO/Orphanet_251633
Low grade ependymoma
'Low grade ependymoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Europe') and ('has_annual_incidence_average_value' value 0.16f)
http://www.orpha.net/ORDO/Orphanet_225329
glutaredoxin and cysteine rich domain containing 1
'glutaredoxin and cysteine rich domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'glutaredoxin and cysteine rich domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_166409
Photosensitive epilepsy
'Photosensitive epilepsy' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Photosensitive epilepsy' SubClassOf 'has_AgeOfOnset' some 'Adult'
'Photosensitive epilepsy' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
http://www.orpha.net/ORDO/Orphanet_141124
Congenital laryngeal cyst
'Congenital laryngeal cyst' SubClassOf 'malformation syndrome'
'Congenital laryngeal cyst' SubClassOf 'morphological anomaly'
http://www.orpha.net/ORDO/Orphanet_141121
Congenital subglottic stenosis
'Congenital subglottic stenosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_406879
glutaminyl-tRNA synthetase
'glutaminyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome'
http://www.orpha.net/ORDO/Orphanet_321350
MDM2 proto-oncogene
'MDM2 proto-oncogene' SubClassOf 'Modifying germline mutation in' some 'Li-Fraumeni syndrome'
'MDM2 proto-oncogene' SubClassOf 'Modifying germline mutation in' some 'Li-Fraumeni syndrome'
http://www.orpha.net/ORDO/Orphanet_86872
T-cell large granular lymphocyte leukemia
'T-cell large granular lymphocyte leukemia' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma'
'T-cell large granular lymphocyte leukemia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_512034
http://www.orpha.net/ORDO/Orphanet_86873
Aggressive NK-cell leukemia
'Aggressive NK-cell leukemia' SubClassOf 'part_of' some 'T-cell non-Hodgkin lymphoma'
'Aggressive NK-cell leukemia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_512034
http://www.orpha.net/ORDO/Orphanet_96201
X small rings
'X small rings' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'X small rings' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_358630
Ras like without CAAX 1
'Ras like without CAAX 1' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Noonan syndrome'
'Ras like without CAAX 1' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Noonan syndrome'
http://www.orpha.net/ORDO/Orphanet_118703
sonic hedgehog
'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb, bilateral'
'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb, unilateral'
'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia, unilateral'
'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia, bilateral'
'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb'
'sonic hedgehog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia'
http://www.orpha.net/ORDO/Orphanet_86855
Plasmacytoma
'Plasmacytoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.34f)
http://www.orpha.net/ORDO/Orphanet_2042
Tracheo-esophageal fistula-hypospadias syndrome
'Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf 'part_of' some 'Respiratory malformation'
'Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf 'part_of' some 'Genetic respiratory malformation'
'Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf 'part_of' some 'Tracheal anomaly'
'Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation'
'Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf 'part_of' some 'Non-syndromic respiratory or mediastinal malformation'
'Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf 'part_of' some 'Genetic tracheal anomaly'
'Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf 'part_of' some 'Syndromic respiratory or mediastinal malformation'
'Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf 'malformation syndrome'
'Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf 'part_of' some 'Larynx anomaly'
'Tracheo-esophageal fistula-hypospadias syndrome' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_3379
Distal trisomy 17q
'Distal trisomy 17q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_118723
SIX homeobox 1
'SIX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'SIX homeobox 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_3453
Autoimmune polyendocrinopathy type 1
'Autoimmune polyendocrinopathy type 1' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
http://www.orpha.net/ORDO/Orphanet_3451
West syndrome
'West syndrome' SubClassOf ('present_in' some 'Iceland') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 2.5f)
'West syndrome' SubClassOf ('present_in' some 'Finland') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 2.5f)
'West syndrome' SubClassOf ('present_in' some 'Europe') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 1.3f)
'West syndrome' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 8.0f)
'West syndrome' SubClassOf ('present_in' some 'Sweden') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 4.5f)
'West syndrome' SubClassOf ('present_in' some 'Iceland') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 2.5f)
'West syndrome' SubClassOf ('present_in' some 'Europe') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 3.5f)
'West syndrome' SubClassOf ('present_in' some 'Finland') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 2.5f)
'West syndrome' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 6.0f)
'West syndrome' SubClassOf ('present_in' some 'Sweden') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 4.5f)
http://www.orpha.net/ORDO/Orphanet_2124
Cavernous hemangiomas of face-supraumbilical midline raphe syndrome
'Cavernous hemangiomas of face-supraumbilical midline raphe syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_251523
Hyperzincemia and hypercalprotectinemia
'Hyperzincemia and hypercalprotectinemia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324942
http://www.orpha.net/ORDO/Orphanet_239888
nuclear factor I X
'nuclear factor I X' SubClassOf 'Role in the phenotype of' some '19p13.3 microduplication syndrome'
http://www.orpha.net/ORDO/Orphanet_3472
Yunis-Varon syndrome
'Yunis-Varon syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_480773
Fibular aplasia-tibial campomelia-oligosyndactyly syndrome
'Fibular aplasia-tibial campomelia-oligosyndactyly syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects'
'Fibular aplasia-tibial campomelia-oligosyndactyly syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Fibular aplasia-tibial campomelia-oligosyndactyly syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects'
'Fibular aplasia-tibial campomelia-oligosyndactyly syndrome' SubClassOf 'part_of' some 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy'
'Fibular aplasia-tibial campomelia-oligosyndactyly syndrome' SubClassOf 'malformation syndrome'
'Fibular aplasia-tibial campomelia-oligosyndactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Fibular aplasia-tibial campomelia-oligosyndactyly syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 14.0f)
'Fibular aplasia-tibial campomelia-oligosyndactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Fibular aplasia-tibial campomelia-oligosyndactyly syndrome' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_251589
Anaplastic astrocytoma
'Anaplastic astrocytoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.4f)
http://www.orpha.net/ORDO/Orphanet_251595
Diffuse astrocytoma
'Diffuse astrocytoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.48f)
http://www.orpha.net/ORDO/Orphanet_96265
Leydig cell hypoplasia due to complete LH resistance
'Leydig cell hypoplasia due to complete LH resistance' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96266
Leydig cell hypoplasia due to partial LH resistance
'Leydig cell hypoplasia due to partial LH resistance' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_97598
Congenital renal artery stenosis
'Congenital renal artery stenosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_141174
Mandibular arteriovenous malformation
'Mandibular arteriovenous malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_141171
Maxillary arteriovenous malformation
'Maxillary arteriovenous malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_141194
Cerebrofacial arteriovenous metameric syndrome type 1
'Cerebrofacial arteriovenous metameric syndrome type 1' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Cerebrofacial arteriovenous metameric syndrome type 1' SubClassOf 'has_AgeOfOnset' some 'Childhood'
http://www.orpha.net/ORDO/Orphanet_141199
Cerebrofacial arteriovenous metameric syndrome type 3
'Cerebrofacial arteriovenous metameric syndrome type 3' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Cerebrofacial arteriovenous metameric syndrome type 3' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_310793
nicotinamide nucleotide adenylyltransferase 1
'nicotinamide nucleotide adenylyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Cone rod dystrophy'
http://www.orpha.net/ORDO/Orphanet_141136
Hemifacial microsomia
'Hemifacial microsomia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_25980
X-linked myopathy with excessive autophagy
'X-linked myopathy with excessive autophagy' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
'X-linked myopathy with excessive autophagy' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'X-linked myopathy with excessive autophagy' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'X-linked myopathy with excessive autophagy' SubClassOf 'has_AgeOfOnset' some 'Adult'
http://www.orpha.net/ORDO/Orphanet_141168
Frontonasal arteriovenous malformation
'Frontonasal arteriovenous malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_184
Cherubism
'Cherubism' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324953
http://www.orpha.net/ORDO/Orphanet_183
Eosinophilic granulomatosis with polyangiitis
'Eosinophilic granulomatosis with polyangiitis' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.4f)
http://www.orpha.net/ORDO/Orphanet_71211
Neuromyelitis optica
'Neuromyelitis optica' SubClassOf 'part_of' some 'Rare acquired eye disease'
'Neuromyelitis optica' SubClassOf ('present_in' some 'Japan') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 2.1f)
http://www.orpha.net/ORDO/Orphanet_117
Behçet disease
'Behçet disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324953
http://www.orpha.net/ORDO/Orphanet_122
Birt-Hogg-Dubé syndrome
'Birt-Hogg-Dubé syndrome' SubClassOf 'part_of' some 'Rare genetic respiratory disease'
'Birt-Hogg-Dubé syndrome' SubClassOf 'part_of' some 'Primary interstitial lung disease specific to adulthood'
http://www.orpha.net/ORDO/Orphanet_142
Anaplastic thyroid carcinoma
'Anaplastic thyroid carcinoma' SubClassOf 'has_AgeOfOnset' some 'Elderly'
http://www.orpha.net/ORDO/Orphanet_150
Nasopharyngeal carcinoma
'Nasopharyngeal carcinoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Europe') and ('has_annual_incidence_average_value' value 0.36f)
http://www.orpha.net/ORDO/Orphanet_1083
Microlissencephaly
'Microlissencephaly' SubClassOf 'part_of' some 'Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature'
'Microlissencephaly' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature'
http://www.orpha.net/ORDO/Orphanet_2479
Megalocornea-intellectual disability syndrome
'Megalocornea-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Megalocornea-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Megalocornea-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood'
http://www.orpha.net/ORDO/Orphanet_1145
Infantile-onset X-linked spinal muscular atrophy
'Infantile-onset X-linked spinal muscular atrophy' SubClassOf 'part_of' some 'X-linked distal hereditary motor neuropathy'
http://www.orpha.net/ORDO/Orphanet_2477
Megalencephaly
'Megalencephaly' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Megalencephaly' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_1155
Arthrogryposis due to muscular dystrophy
'Arthrogryposis due to muscular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Arthrogryposis due to muscular dystrophy' SubClassOf 'disease'
'Arthrogryposis due to muscular dystrophy' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita'
'Arthrogryposis due to muscular dystrophy' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Arthrogryposis due to muscular dystrophy' SubClassOf 'part_of' some 'Congenital muscular dystrophy'
'Arthrogryposis due to muscular dystrophy' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_286546
chromosome 9 open reading frame 72
'chromosome 9 open reading frame 72' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
'chromosome 9 open reading frame 72' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
'chromosome 9 open reading frame 72' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
'chromosome 9 open reading frame 72' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
http://www.orpha.net/ORDO/Orphanet_2495
Meningioma
'Meningioma' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 4.52f)
'Meningioma' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 8.14f)
http://www.orpha.net/ORDO/Orphanet_297206
potassium voltage-gated channel subfamily J member 8
'potassium voltage-gated channel subfamily J member 8' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome'
'potassium voltage-gated channel subfamily J member 8' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome'
http://www.orpha.net/ORDO/Orphanet_251896
Choroid plexus tumor
'Choroid plexus tumor' SubClassOf ('has_annual_incidence_range' some '1 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.05f)
http://www.orpha.net/ORDO/Orphanet_444781
kinesin family member 14
'kinesin family member 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly'
http://www.orpha.net/ORDO/Orphanet_2438
Hand-foot-genital syndrome
'Hand-foot-genital syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Hand-foot-genital syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_117820
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
'phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Adult hepatocellular carcinoma'
'phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Adult hepatocellular carcinoma'
http://www.orpha.net/ORDO/Orphanet_1121
Radial deficiency-tibial hypoplasia syndrome
'Radial deficiency-tibial hypoplasia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Radial deficiency-tibial hypoplasia syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_2454
Familial intestinal malrotation-facial anomalies syndrome
'Familial intestinal malrotation-facial anomalies syndrome' SubClassOf 'part_of' some 'Syndromic intestinal malformation'
'Familial intestinal malrotation-facial anomalies syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
'Familial intestinal malrotation-facial anomalies syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Familial intestinal malrotation-facial anomalies syndrome' SubClassOf 'malformation syndrome'
'Familial intestinal malrotation-facial anomalies syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_370079
Proximal 16p11.2 microduplication syndrome
'Proximal 16p11.2 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Proximal 16p11.2 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_492482
EPS8 like 2
'EPS8 like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'EPS8 like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_201589
hepatocyte growth factor
'hepatocyte growth factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'hepatocyte growth factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_492464
solute carrier family 44 member 4
'solute carrier family 44 member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'solute carrier family 44 member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_492456
WW domain binding protein 2
'WW domain binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'WW domain binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_492445
receptor tyrosine kinase like orphan receptor 1
'receptor tyrosine kinase like orphan receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'receptor tyrosine kinase like orphan receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_406620
chloride intracellular channel 5
'chloride intracellular channel 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'chloride intracellular channel 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_201502
paired like homeodomain 1
'paired like homeodomain 1' SubClassOf 'Role in the phenotype of' some 'Mirror-image polydactyly'
http://www.orpha.net/ORDO/Orphanet_201509
KIT ligand
'KIT ligand' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'KIT ligand' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_117673
ATP binding cassette subfamily C member 9
'ATP binding cassette subfamily C member 9' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Brugada syndrome'
'ATP binding cassette subfamily C member 9' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Brugada syndrome'
http://www.orpha.net/ORDO/Orphanet_201546
kelch like family member 7
'kelch like family member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Bohring-Opitz syndrome'
http://www.orpha.net/ORDO/Orphanet_46135
Primary central nervous system lymphoma
'Primary central nervous system lymphoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 6.0f)
'Primary central nervous system lymphoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.44f)
http://www.orpha.net/ORDO/Orphanet_167901
mitochondrially encoded tRNA serine 1 (UCN)
'mitochondrially encoded tRNA serine 1 (UCN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited progressive external ophthalmoplegia'
'mitochondrially encoded tRNA serine 1 (UCN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited progressive external ophthalmoplegia'
http://www.orpha.net/ORDO/Orphanet_2291
Congenital velopharyngeal incompetence
'Congenital velopharyngeal incompetence' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_117639
ATP binding cassette subfamily B member 4
'ATP binding cassette subfamily B member 4' SubClassOf 'Major susceptibility factor in' some 'Intrahepatic cholestasis of pregnancy'
'ATP binding cassette subfamily B member 4' SubClassOf 'Major susceptibility factor in' some 'Intrahepatic cholestasis of pregnancy'
http://www.orpha.net/ORDO/Orphanet_117631
ATP binding cassette subfamily B member 11
'ATP binding cassette subfamily B member 11' SubClassOf 'Major susceptibility factor in' some 'Intrahepatic cholestasis of pregnancy'
'ATP binding cassette subfamily B member 11' SubClassOf 'Major susceptibility factor in' some 'Intrahepatic cholestasis of pregnancy'
http://www.orpha.net/ORDO/Orphanet_285156
lysine acetyltransferase 6B
'lysine acetyltransferase 6B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
'lysine acetyltransferase 6B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
http://www.orpha.net/ORDO/Orphanet_261112
Monosomy 9p
'Monosomy 9p' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Monosomy 9p' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_2374
Congenital laryngeal web
'Congenital laryngeal web' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_2373
Congenital laryngomalacia
'Congenital laryngomalacia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Congenital laryngomalacia' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_285106
RNA polymerase III subunit A
'RNA polymerase III subunit A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome'
http://www.orpha.net/ORDO/Orphanet_2312
Transient familial neonatal hyperbilirubinemia
'Transient familial neonatal hyperbilirubinemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_2325
Epidermolysis bullosa simplex with anodontia/hypodontia
'Epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_1000
Ocular albinism with late-onset sensorineural deafness
'Ocular albinism with late-onset sensorineural deafness' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 7.0f)
'Ocular albinism with late-onset sensorineural deafness' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 9.0f)
http://www.orpha.net/ORDO/Orphanet_2331
Kawasaki disease
'Kawasaki disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280369
http://www.orpha.net/ORDO/Orphanet_1006
Alopecia antibody deficiency
'Alopecia antibody deficiency' SubClassOf 'part_of' some 'Other immunodeficiency syndrome with predominantly antibody defects'
http://www.orpha.net/ORDO/Orphanet_189333
microRNA 96
'microRNA 96' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'microRNA 96' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_238722
Familial congenital mirror movements
'Familial congenital mirror movements' SubClassOf 'has_inheritance' some 'autosomal recessive'
http://www.orpha.net/ORDO/Orphanet_201496
intestinal cell kinase
'intestinal cell kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile myoclonic epilepsy'
http://www.orpha.net/ORDO/Orphanet_166683
syntaxin binding protein 1
'syntaxin binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical Rett syndrome'
'syntaxin binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Undetermined early-onset epileptic encephalopathy'
'syntaxin binding protein 1' SubClassOf 'Role in the phenotype of' some '9q33.3q34.11 microdeletion syndrome'
'syntaxin binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability'
'syntaxin binding protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome'
http://www.orpha.net/ORDO/Orphanet_123821
NLR family pyrin domain containing 3
'NLR family pyrin domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'CINCA syndrome'
'NLR family pyrin domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'CINCA syndrome'
http://www.orpha.net/ORDO/Orphanet_93672
Juvenile dermatomyositis
'Juvenile dermatomyositis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
http://www.orpha.net/ORDO/Orphanet_79395
Keratoderma hereditarium mutilans with ichthyosis
'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_93682
Pediatric Castleman disease
'Pediatric Castleman disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
http://www.orpha.net/ORDO/Orphanet_70
Proximal spinal muscular atrophy
'Proximal spinal muscular atrophy' SubClassOf 'part_of' some 'Genetic peripheral neuropathy'
http://www.orpha.net/ORDO/Orphanet_73
Gorham-Stout disease
'Gorham-Stout disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_486955
http://www.orpha.net/ORDO/Orphanet_228000
Idiopathic CD4 lymphocytopenia
'Idiopathic CD4 lymphocytopenia' SubClassOf 'disease'
'Idiopathic CD4 lymphocytopenia' SubClassOf 'biological anomaly'
http://www.orpha.net/ORDO/Orphanet_218672
glycerol-3-phosphate dehydrogenase 1 like
'glycerol-3-phosphate dehydrogenase 1 like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
'glycerol-3-phosphate dehydrogenase 1 like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
http://www.orpha.net/ORDO/Orphanet_411712
Maternal riboflavin deficiency
'Maternal riboflavin deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 1.0f)
'Maternal riboflavin deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
http://www.orpha.net/ORDO/Orphanet_218675
sodium voltage-gated channel beta subunit 3
'sodium voltage-gated channel beta subunit 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
'sodium voltage-gated channel beta subunit 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
http://www.orpha.net/ORDO/Orphanet_360
Glioblastoma
'Glioblastoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 3.0f)
'Glioblastoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 3.2f)
http://www.orpha.net/ORDO/Orphanet_59
Allan-Herndon-Dudley syndrome
'Allan-Herndon-Dudley syndrome' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1 / 1 000 000')
http://www.orpha.net/ORDO/Orphanet_51
Aicardi-Goutières syndrome
'Aicardi-Goutières syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
http://www.orpha.net/ORDO/Orphanet_314597
Chudley-McCullough syndrome
'Chudley-McCullough syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature'
'Chudley-McCullough syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature'
'Chudley-McCullough syndrome' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature'
http://www.orpha.net/ORDO/Orphanet_371
Glycogen storage disease due to muscle phosphofructokinase deficiency
'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf 'has_AgeOfOnset' some 'Adult'
'Glycogen storage disease due to muscle phosphofructokinase deficiency' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
http://www.orpha.net/ORDO/Orphanet_384
Palmoplantar keratoderma-sclerodactyly syndrome
'Palmoplantar keratoderma-sclerodactyly syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant'
'Palmoplantar keratoderma-sclerodactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Palmoplantar keratoderma-sclerodactyly syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_399
Huntington disease
'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Worldwide') and ('has_annual_incidence_average_value' value 0.38f)
'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.3f)
'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1 / 1 000 000') and ('present_in' some 'China') and ('has_annual_incidence_average_value' value 0.046f)
'Huntington disease' SubClassOf ('present_in' some 'Norway') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 6.7f)
'Huntington disease' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 2.7f)
'Huntington disease' SubClassOf ('present_in' some 'Sweden') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 4.7f)
'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Greece') and ('has_annual_incidence_average_value' value 0.33f)
'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Australia') and ('has_annual_incidence_average_value' value 0.65f)
'Huntington disease' SubClassOf ('present_in' some 'Iceland') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 1.0f)
'Huntington disease' SubClassOf ('present_in' some 'Ireland') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 10.6f)
'Huntington disease' SubClassOf ('present_in' some 'Australia') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 6.3f)
'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Iceland') and ('has_annual_incidence_average_value' value 0.14f)
'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Italy') and ('has_annual_incidence_average_value' value 0.11f)
'Huntington disease' SubClassOf ('present_in' some 'Greece') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 4.0f)
'Huntington disease' SubClassOf ('present_in' some 'Slovenia') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 5.2f)
'Huntington disease' SubClassOf ('present_in' some 'United States') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 1.9f)
'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Spain') and ('has_annual_incidence_average_value' value 0.47f)
'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Canada') and ('has_annual_incidence_average_value' value 0.69f)
'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1 / 1 000 000') and ('present_in' some 'Taiwan, Province of China') and ('has_annual_incidence_average_value' value 0.08f)
'Huntington disease' SubClassOf ('present_in' some 'Finland') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.5f)
'Huntington disease' SubClassOf ('present_in' some 'Japan') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.65f)
'Huntington disease' SubClassOf ('present_in' some 'China') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.37f)
'Huntington disease' SubClassOf ('present_in' some 'Taiwan, Province of China') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.42f)
'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Worldwide') and ('has_annual_incidence_average_value' value 0.38f)
'Huntington disease' SubClassOf ('present_in' some 'Norway') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 6.7f)
'Huntington disease' SubClassOf ('present_in' some 'Iceland') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 1.0f)
'Huntington disease' SubClassOf ('present_in' some 'Cyprus') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 4.64f)
'Huntington disease' SubClassOf ('present_in' some 'Ireland') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 10.6f)
'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Italy') and ('has_annual_incidence_average_value' value 0.11f)
'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Iceland') and ('has_annual_incidence_average_value' value 0.14f)
'Huntington disease' SubClassOf ('present_in' some 'Slovenia') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 5.2f)
'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Spain') and ('has_annual_incidence_average_value' value 0.47f)
'Huntington disease' SubClassOf ('present_in' some 'United States') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 1.9f)
'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Cyprus') and ('has_annual_incidence_average_value' value 0.12f)
'Huntington disease' SubClassOf ('present_in' some 'Finland') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.5f)
'Huntington disease' SubClassOf ('present_in' some 'Taiwan, Province of China') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.42f)
'Huntington disease' SubClassOf ('present_in' some 'Egypt') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 21.0f)
'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.3f)
'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1 / 1 000 000') and ('present_in' some 'China') and ('has_annual_incidence_average_value' value 0.046f)
'Huntington disease' SubClassOf ('present_in' some 'Sweden') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 4.7f)
'Huntington disease' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 2.7f)
'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Greece') and ('has_annual_incidence_average_value' value 0.33f)
'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Australia') and ('has_annual_incidence_average_value' value 0.65f)
'Huntington disease' SubClassOf ('present_in' some 'Australia') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 6.3f)
'Huntington disease' SubClassOf ('present_in' some 'Greece') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 4.0f)
'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Canada') and ('has_annual_incidence_average_value' value 0.69f)
'Huntington disease' SubClassOf ('present_in' some 'China') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.37f)
'Huntington disease' SubClassOf ('present_in' some 'Japan') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.65f)
'Huntington disease' SubClassOf ('has_annual_incidence_range' some '1 / 1 000 000') and ('present_in' some 'Taiwan, Province of China') and ('has_annual_incidence_average_value' value 0.08f)
http://www.orpha.net/ORDO/Orphanet_422342
oxysterol binding protein like 2
'oxysterol binding protein like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'oxysterol binding protein like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_157215
Hereditary hypophosphatemic rickets with hypercalciuria
'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'has_AgeOfOnset' some 'All ages'
'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'has_AgeOfOnset' some 'Childhood'
http://www.orpha.net/ORDO/Orphanet_434377
doublecortin domain containing 2
'doublecortin domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'doublecortin domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_460650
X-ray repair cross complementing 4
'X-ray repair cross complementing 4' SubClassOf 'Candidate gene tested in' some 'LIG4 syndrome'
'X-ray repair cross complementing 4' SubClassOf 'Candidate gene tested in' some 'LIG4 syndrome'
http://www.orpha.net/ORDO/Orphanet_121239
double homeobox 4 like 1
'double homeobox 4 like 1' SubClassOf 'Candidate gene tested in' some 'Facioscapulohumeral dystrophy'
'double homeobox 4 like 1' SubClassOf 'Candidate gene tested in' some 'Facioscapulohumeral dystrophy'
http://www.orpha.net/ORDO/Orphanet_79457
Maculopapular cutaneous mastocytosis
'Maculopapular cutaneous mastocytosis' SubClassOf ('present_in' some 'Europe') and ('has_birth_prevalence_range' some '6-9 / 10 000') and ('has_birth_prevalence_average_value' value 56.25f)
http://www.orpha.net/ORDO/Orphanet_435660
LIPE-related familial partial lipodystrophy
'LIPE-related familial partial lipodystrophy' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
'LIPE-related familial partial lipodystrophy' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 4.0f)
http://www.orpha.net/ORDO/Orphanet_122552
HtrA serine peptidase 2
'HtrA serine peptidase 2' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_505208
http://www.orpha.net/ORDO/Orphanet_122538
HSPB1 associated protein 1
'HSPB1 associated protein 1' SubClassOf 'Part of a fusion gene in' some 'Hereditary clear cell renal cell carcinoma'
'HSPB1 associated protein 1' SubClassOf 'Part of a fusion gene in' some 'Hereditary clear cell renal cell carcinoma'
http://www.orpha.net/ORDO/Orphanet_93568
Juvenile polymyositis
'Juvenile polymyositis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
http://www.orpha.net/ORDO/Orphanet_314655
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
'Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion' SubClassOf 'clinical subtype'
'Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion' SubClassOf 'etiological subtype'
http://www.orpha.net/ORDO/Orphanet_280553
Fatal infantile hypertonic myofibrillar myopathy
'Fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'part_of' some 'Alpha-crystallinopathy'
http://www.orpha.net/ORDO/Orphanet_281884
nodal growth differentiation factor
'nodal growth differentiation factor' SubClassOf 'Candidate gene tested in' some 'Situs ambiguus'
'nodal growth differentiation factor' SubClassOf 'Candidate gene tested in' some 'Situs ambiguus'
http://www.orpha.net/ORDO/Orphanet_293864
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
'Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_498350
http://www.orpha.net/ORDO/Orphanet_445197
Secondary vasculitis
'Secondary vasculitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_280369
http://www.orpha.net/ORDO/Orphanet_457185
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
'Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_376917
vascular endothelial growth factor C
'vascular endothelial growth factor C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Milroy disease'
'vascular endothelial growth factor C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Milroy disease'
http://www.orpha.net/ORDO/Orphanet_496768
Vac14, PIKFYVE complex component
'Vac14, PIKFYVE complex component' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood-onset basal ganglia degeneration syndrome'
'Vac14, PIKFYVE complex component' SubClassOf 'has_chromosomal location' value "16q22.1-q22.2"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_93552
Pediatric systemic lupus erythematosus
'Pediatric systemic lupus erythematosus' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
http://www.orpha.net/ORDO/Orphanet_222
Erosive pustular dermatosis of the scalp
'Erosive pustular dermatosis of the scalp' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
'Erosive pustular dermatosis of the scalp' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Erosive pustular dermatosis of the scalp' SubClassOf 'has_AgeOfOnset' some 'Elderly'
http://www.orpha.net/ORDO/Orphanet_268810
Posterior meningocele
'Posterior meningocele' SubClassOf ('present_in' some 'Europe') and ('has_birth_prevalence_range' some '1 / 1000') and ('has_birth_prevalence_average_value' value 100.0f)
http://www.orpha.net/ORDO/Orphanet_326692
disrupted in renal carcinoma 3
'disrupted in renal carcinoma 3' SubClassOf 'Part of a fusion gene in' some 'Hereditary clear cell renal cell carcinoma'
'disrupted in renal carcinoma 3' SubClassOf 'Part of a fusion gene in' some 'Hereditary clear cell renal cell carcinoma'
http://www.orpha.net/ORDO/Orphanet_169082
Combined immunodeficiency due to CD3gamma deficiency
'Combined immunodeficiency due to CD3gamma deficiency' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_270
Oculopharyngeal muscular dystrophy
'Oculopharyngeal muscular dystrophy' SubClassOf ('present_in' some 'United Kingdom') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.13f)
'Oculopharyngeal muscular dystrophy' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-9 / 1 000 000')
'Oculopharyngeal muscular dystrophy' SubClassOf ('present_in' some 'France') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.5f)
'Oculopharyngeal muscular dystrophy' SubClassOf ('present_in' some 'France') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 1.0f)
'Oculopharyngeal muscular dystrophy' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-9 / 100 000')
http://www.orpha.net/ORDO/Orphanet_217260
Progressive multifocal leukoencephalopathy
'Progressive multifocal leukoencephalopathy' SubClassOf ('has_annual_incidence_range' some '1 / 1 000 000') and ('present_in' some 'Sweden') and ('has_annual_incidence_average_value' value 0.068f)
http://www.orpha.net/ORDO/Orphanet_434424
frizzled class receptor 2
'frizzled class receptor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant Robinow syndrome'
http://www.orpha.net/ORDO/Orphanet_159773
mitochondrially encoded ATP synthase 8
'mitochondrially encoded ATP synthase 8' SubClassOf 'Candidate gene tested in' some 'Kearns-Sayre syndrome'
'mitochondrially encoded ATP synthase 8' SubClassOf 'Candidate gene tested in' some 'Kearns-Sayre syndrome'
http://www.orpha.net/ORDO/Orphanet_123797
NK2 homeobox 5
'NK2 homeobox 5' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot'
'NK2 homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Athyreosis'
'NK2 homeobox 5' SubClassOf 'Candidate gene tested in' some 'Tetralogy of Fallot'
'NK2 homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Athyreosis'
http://www.orpha.net/ORDO/Orphanet_301
Ependymal tumor
'Ependymal tumor' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.41f)
'Ependymal tumor' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.43f)
http://www.orpha.net/ORDO/Orphanet_244810
DCC netrin 1 receptor
'DCC netrin 1 receptor' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Kallmann syndrome'
http://www.orpha.net/ORDO/Orphanet_121193
desmoglein 2
'desmoglein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
'desmoglein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
http://www.orpha.net/ORDO/Orphanet_121196
desmoplakin
'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
'desmoplakin' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
'desmoplakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
'desmoplakin' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
http://www.orpha.net/ORDO/Orphanet_121185
desmocollin 2
'desmocollin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
'desmocollin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
http://www.orpha.net/ORDO/Orphanet_92
Juvenile idiopathic arthritis
'Juvenile idiopathic arthritis' SubClassOf http://www.orpha.net/ORDO/Orphanet_486955
http://www.orpha.net/ORDO/Orphanet_434401
SOS Ras/Rho guanine nucleotide exchange factor 2
'SOS Ras/Rho guanine nucleotide exchange factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
'SOS Ras/Rho guanine nucleotide exchange factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
http://www.orpha.net/ORDO/Orphanet_338
Familial multiple fibrofolliculoma
'Familial multiple fibrofolliculoma' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
http://www.orpha.net/ORDO/Orphanet_333
Farber disease
'Farber disease' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 80.0f)
'Farber disease' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 96.0f)
http://www.orpha.net/ORDO/Orphanet_266184
lysyl-tRNA synthetase
'lysyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'lysyl-tRNA synthetase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_123710
necdin, MAGE family member
'necdin, MAGE family member' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
'necdin, MAGE family member' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
'necdin, MAGE family member' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to imprinting mutation'
'necdin, MAGE family member' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
'necdin, MAGE family member' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
'necdin, MAGE family member' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to imprinting mutation'
http://www.orpha.net/ORDO/Orphanet_79345
Brachytelephalangic chondrodysplasia punctata
'Brachytelephalangic chondrodysplasia punctata' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_79346
Chondrodysplasia punctata, tibial-metacarpal type
'Chondrodysplasia punctata, tibial-metacarpal type' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Chondrodysplasia punctata, tibial-metacarpal type' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_123777
nerve growth factor
'nerve growth factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 5'
'nerve growth factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary sensory and autonomic neuropathy type 5'
http://www.orpha.net/ORDO/Orphanet_123772
neurofibromin 1
'neurofibromin 1' SubClassOf 'Role in the phenotype of' some '17q11.2 microduplication syndrome'
'neurofibromin 1' SubClassOf 'Role in the phenotype of' some '17q11.2 microduplication syndrome'
http://www.orpha.net/ORDO/Orphanet_445129
homer scaffolding protein 2
'homer scaffolding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'homer scaffolding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_328924
sodium voltage-gated channel alpha subunit 11
'sodium voltage-gated channel alpha subunit 11' SubClassOf 'Candidate gene tested in' some 'Paroxysmal extreme pain disorder'
'sodium voltage-gated channel alpha subunit 11' SubClassOf 'Candidate gene tested in' some 'Paroxysmal extreme pain disorder'
http://www.orpha.net/ORDO/Orphanet_265258
RNA, U4atac small nuclear (U12-dependent splicing)
'RNA, U4atac small nuclear (U12-dependent splicing)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lowry-Wood syndrome'
http://www.orpha.net/ORDO/Orphanet_497764
Spinocerebellar ataxia type 43
'Spinocerebellar ataxia type 43' SubClassOf 'has_inheritance' some 'autosomal dominant'
http://www.orpha.net/ORDO/Orphanet_289276
glutamate ionotropic receptor NMDA type subunit 2A
'glutamate ionotropic receptor NMDA type subunit 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rolandic epilepsy'
'glutamate ionotropic receptor NMDA type subunit 2A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Rolandic epilepsy'
http://www.orpha.net/ORDO/Orphanet_497757
MME-related autosomal dominant Charcot Marie Tooth disease type 2
'MME-related autosomal dominant Charcot Marie Tooth disease type 2' SubClassOf 'has_inheritance' some 'autosomal dominant'
http://www.orpha.net/ORDO/Orphanet_122727
Janus kinase 2
'Janus kinase 2' SubClassOf 'Major susceptibility factor in' some 'Budd-Chiari syndrome'
'Janus kinase 2' SubClassOf 'Candidate gene tested in' some 'Budd-Chiari syndrome'
http://www.orpha.net/ORDO/Orphanet_122719
jagged 1
'jagged 1' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot'
'jagged 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Tetralogy of Fallot'
http://www.orpha.net/ORDO/Orphanet_584
Mucopolysaccharidosis type 7
'Mucopolysaccharidosis type 7' SubClassOf ('present_in' some 'Japan') and ('has_birth_prevalence_range' some '1 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.02f)
'Mucopolysaccharidosis type 7' SubClassOf ('present_in' some 'Switzerland') and ('has_birth_prevalence_range' some '1 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.038f)
'Mucopolysaccharidosis type 7' SubClassOf ('present_in' some 'United States') and ('has_birth_prevalence_range' some '1 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.05f)
'Mucopolysaccharidosis type 7' SubClassOf ('present_in' some 'Australia') and ('has_birth_prevalence_range' some '1 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.047f)
http://www.orpha.net/ORDO/Orphanet_583
Mucopolysaccharidosis type 6
'Mucopolysaccharidosis type 6' SubClassOf ('present_in' some 'Brazil') and ('has_birth_prevalence_range' some '1-5 / 10 000') and ('has_birth_prevalence_average_value' value 25.0f)
'Mucopolysaccharidosis type 6' SubClassOf ('present_in' some 'Saudi Arabia') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 8.0f)
'Mucopolysaccharidosis type 6' SubClassOf ('present_in' some 'Tunisia') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.3f)
'Mucopolysaccharidosis type 6' SubClassOf ('present_in' some 'Japan') and ('has_birth_prevalence_range' some '1 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.03f)
'Mucopolysaccharidosis type 6' SubClassOf ('present_in' some 'United States') and ('has_birth_prevalence_range' some '1 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.05f)
'Mucopolysaccharidosis type 6' SubClassOf ('present_in' some 'Saudi Arabia') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 7.85f)
'Mucopolysaccharidosis type 6' SubClassOf ('present_in' some 'Brazil') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.31f)
'Mucopolysaccharidosis type 6' SubClassOf ('present_in' some 'Korea, Republic of') and ('has_birth_prevalence_range' some '1 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.019f)
'Mucopolysaccharidosis type 6' SubClassOf ('present_in' some 'Switzerland') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.11f)
http://www.orpha.net/ORDO/Orphanet_582
Mucopolysaccharidosis type 4
'Mucopolysaccharidosis type 4' SubClassOf ('present_in' some 'Portugal') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.6f)
'Mucopolysaccharidosis type 4' SubClassOf ('present_in' some 'Brazil') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.11f)
'Mucopolysaccharidosis type 4' SubClassOf ('present_in' some 'Saudi Arabia') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 3.62f)
'Mucopolysaccharidosis type 4' SubClassOf ('present_in' some 'Japan') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.15f)
'Mucopolysaccharidosis type 4' SubClassOf ('present_in' some 'Australia') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.59f)
'Mucopolysaccharidosis type 4' SubClassOf ('present_in' some 'Korea, Republic of') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.13f)
'Mucopolysaccharidosis type 4' SubClassOf ('present_in' some 'United States') and ('has_birth_prevalence_range' some '1 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.09f)
'Mucopolysaccharidosis type 4' SubClassOf ('present_in' some 'Switzerland') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.38f)
http://www.orpha.net/ORDO/Orphanet_581
Mucopolysaccharidosis type 3
'Mucopolysaccharidosis type 3' SubClassOf ('present_in' some 'Japan') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.26f)
'Mucopolysaccharidosis type 3' SubClassOf ('present_in' some 'Korea, Republic of') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.25f)
'Mucopolysaccharidosis type 3' SubClassOf ('present_in' some 'Estonia') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 1.62f)
'Mucopolysaccharidosis type 3' SubClassOf ('present_in' some 'Saudi Arabia') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 1.8f)
'Mucopolysaccharidosis type 3' SubClassOf ('present_in' some 'United States') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.38f)
'Mucopolysaccharidosis type 3' SubClassOf ('present_in' some 'Switzerland') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.38f)
http://www.orpha.net/ORDO/Orphanet_580
Mucopolysaccharidosis type 2
'Mucopolysaccharidosis type 2' SubClassOf ('present_in' some 'Korea, Republic of') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.74f)
'Mucopolysaccharidosis type 2' SubClassOf ('present_in' some 'Switzerland') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.46f)
'Mucopolysaccharidosis type 2' SubClassOf ('present_in' some 'Brazil') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.38f)
'Mucopolysaccharidosis type 2' SubClassOf ('present_in' some 'Japan') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.84f)
'Mucopolysaccharidosis type 2' SubClassOf ('present_in' some 'Tunisia') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.29f)
'Mucopolysaccharidosis type 2' SubClassOf ('present_in' some 'United States') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.29f)
http://www.orpha.net/ORDO/Orphanet_156077
NK2 homeobox 1
'NK2 homeobox 1' SubClassOf 'Candidate gene tested in' some 'Athyreosis'
'NK2 homeobox 1' SubClassOf 'Candidate gene tested in' some 'Athyreosis'
http://www.orpha.net/ORDO/Orphanet_168073
granulin precursor
'granulin precursor' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
'granulin precursor' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
'granulin precursor' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
'granulin precursor' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
http://www.orpha.net/ORDO/Orphanet_183678
Hermansky-Pudlak syndrome with neutropenia
'Hermansky-Pudlak syndrome with neutropenia' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 8.0f)
'Hermansky-Pudlak syndrome with neutropenia' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 40.0f)
'Hermansky-Pudlak syndrome with neutropenia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_156152
Anti-neutrophil cytoplasmic antibody-associated vasculitis
'Anti-neutrophil cytoplasmic antibody-associated vasculitis' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 3.3f)
'Anti-neutrophil cytoplasmic antibody-associated vasculitis' SubClassOf ('present_in' some 'United States') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 42.1f)
'Anti-neutrophil cytoplasmic antibody-associated vasculitis' SubClassOf http://www.orpha.net/ORDO/Orphanet_280369
http://www.orpha.net/ORDO/Orphanet_181121
spermatogenesis associated 16
'spermatogenesis associated 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia'
'spermatogenesis associated 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia'
http://www.orpha.net/ORDO/Orphanet_653
Multiple endocrine neoplasia type 2
'Multiple endocrine neoplasia type 2' SubClassOf 'has_AgeOfOnset' some 'All ages'
'Multiple endocrine neoplasia type 2' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
'Multiple endocrine neoplasia type 2' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Multiple endocrine neoplasia type 2' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Multiple endocrine neoplasia type 2' SubClassOf 'has_AgeOfOnset' some 'Adult'
http://www.orpha.net/ORDO/Orphanet_120160
TNF receptor superfamily member 11a
'TNF receptor superfamily member 11a' SubClassOf 'Candidate gene tested in' some 'Juvenile Paget disease'
http://www.orpha.net/ORDO/Orphanet_120164
TNF receptor superfamily member 11b
'TNF receptor superfamily member 11b' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile Paget disease'
'TNF receptor superfamily member 11b' SubClassOf 'Disease-causing germline mutation(s) in' some 'Juvenile Paget disease'
http://www.orpha.net/ORDO/Orphanet_648
Noonan syndrome
'Noonan syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Noonan syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_659
Mutilating palmoplantar keratoderma with periorificial keratotic plaques
'Mutilating palmoplantar keratoderma with periorificial keratotic plaques' SubClassOf 'has_AgeOfOnset' some 'Childhood'
http://www.orpha.net/ORDO/Orphanet_678
Papillon-Lefèvre syndrome
'Papillon-Lefèvre syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood'
http://www.orpha.net/ORDO/Orphanet_669
Otopalatodigital syndrome
'Otopalatodigital syndrome' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome'
'Otopalatodigital syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 30.0f)
'Otopalatodigital syndrome' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component'
'Otopalatodigital syndrome' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability'
'Otopalatodigital syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'Otopalatodigital syndrome' SubClassOf 'malformation syndrome'
'Otopalatodigital syndrome' SubClassOf 'has_inheritance' some 'x-linked dominant'
'Otopalatodigital syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Otopalatodigital syndrome' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations'
'Otopalatodigital syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Otopalatodigital syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness'
'Otopalatodigital syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Otopalatodigital syndrome' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome'
'Otopalatodigital syndrome' SubClassOf 'part_of' some 'Otopalatodigital syndrome spectrum disorder'
'Otopalatodigital syndrome' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_168101
ribonucleotide reductase regulatory TP53 inducible subunit M2B
'ribonucleotide reductase regulatory TP53 inducible subunit M2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kearns-Sayre syndrome'
'ribonucleotide reductase regulatory TP53 inducible subunit M2B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kearns-Sayre syndrome'
http://www.orpha.net/ORDO/Orphanet_122773
potassium voltage-gated channel subfamily E regulatory subunit 3
'potassium voltage-gated channel subfamily E regulatory subunit 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
'potassium voltage-gated channel subfamily E regulatory subunit 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
http://www.orpha.net/ORDO/Orphanet_30391
Isolated Biliary atresia
'Isolated Biliary atresia' SubClassOf 'part_of' some 'Rare biliary tract disease'
'Isolated Biliary atresia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_498345
http://www.orpha.net/ORDO/Orphanet_79665
Gardner syndrome
'Gardner syndrome' SubClassOf 'has_AgeOfOnset' some 'Adult'
http://www.orpha.net/ORDO/Orphanet_122768
potassium voltage-gated channel subfamily E regulatory subunit 5
'potassium voltage-gated channel subfamily E regulatory subunit 5' SubClassOf 'Candidate gene tested in' some 'Brugada syndrome'
'potassium voltage-gated channel subfamily E regulatory subunit 5' SubClassOf 'Candidate gene tested in' some 'Brugada syndrome'
http://www.orpha.net/ORDO/Orphanet_171719
Cutis laxa-Marfanoid syndrome
'Cutis laxa-Marfanoid syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 18.0f)
http://www.orpha.net/ORDO/Orphanet_122756
potassium voltage-gated channel subfamily A member 1
'potassium voltage-gated channel subfamily A member 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal kinesigenic dyskinesia'
http://www.orpha.net/ORDO/Orphanet_169402
leucine rich transmembrane and O-methyltransferase domain containing
'leucine rich transmembrane and O-methyltransferase domain containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'leucine rich transmembrane and O-methyltransferase domain containing' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_352662
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
'Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
'Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 19.0f)
http://www.orpha.net/ORDO/Orphanet_122744
junction plakoglobin
'junction plakoglobin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
'junction plakoglobin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
http://www.orpha.net/ORDO/Orphanet_119164
calcium voltage-gated channel auxiliary subunit beta 2
'calcium voltage-gated channel auxiliary subunit beta 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
'calcium voltage-gated channel auxiliary subunit beta 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
http://www.orpha.net/ORDO/Orphanet_120145
transmembrane inner ear
'transmembrane inner ear' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'transmembrane inner ear' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_93932
FG syndrome type 1
'FG syndrome type 1' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature'
http://www.orpha.net/ORDO/Orphanet_120148
transmembrane protease, serine 3
'transmembrane protease, serine 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'transmembrane protease, serine 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_289176
Autosomal recessive hypophosphatemic rickets
'Autosomal recessive hypophosphatemic rickets' SubClassOf 'has_AgeOfOnset' some 'All ages'
'Autosomal recessive hypophosphatemic rickets' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Autosomal recessive hypophosphatemic rickets' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_602
GNE myopathy
'GNE myopathy' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-9 / 1 000 000')
'GNE myopathy' SubClassOf 'has_AgeOfOnset' some 'Elderly'
'GNE myopathy' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 1.0f)
http://www.orpha.net/ORDO/Orphanet_600
Distal myopathy with vocal cord weakness
'Distal myopathy with vocal cord weakness' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 42.0f)
http://www.orpha.net/ORDO/Orphanet_120130
transmembrane channel like 1
'transmembrane channel like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'transmembrane channel like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'transmembrane channel like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'transmembrane channel like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_119140
calcium voltage-gated channel subunit alpha1 C
'calcium voltage-gated channel subunit alpha1 C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
'calcium voltage-gated channel subunit alpha1 C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
http://www.orpha.net/ORDO/Orphanet_93953
Familial thyroglossal duct cyst
'Familial thyroglossal duct cyst' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
http://www.orpha.net/ORDO/Orphanet_91138
Cryoglobulinemic vasculitis
'Cryoglobulinemic vasculitis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280369
http://www.orpha.net/ORDO/Orphanet_123902
nuclear receptor subfamily 0 group B member 1
'nuclear receptor subfamily 0 group B member 1' SubClassOf 'Role in the phenotype of' some '46,XY partial gonadal dysgenesis'
'nuclear receptor subfamily 0 group B member 1' SubClassOf 'Role in the phenotype of' some '46,XY partial gonadal dysgenesis'
http://www.orpha.net/ORDO/Orphanet_463
Adrenal incidentaloma
'Adrenal incidentaloma' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_478
Kallmann syndrome
'Kallmann syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
http://www.orpha.net/ORDO/Orphanet_398091
Secondary neonatal autoimmune disease
'Secondary neonatal autoimmune disease' SubClassOf http://www.orpha.net/ORDO/Orphanet_280373
http://www.orpha.net/ORDO/Orphanet_495
Transgrediens et progrediens palmoplantar keratoderma
'Transgrediens et progrediens palmoplantar keratoderma' SubClassOf 'has_AgeOfOnset' some 'Childhood'
http://www.orpha.net/ORDO/Orphanet_495274
Charcot-Marie-Tooth disease type 2T
'Charcot-Marie-Tooth disease type 2T' SubClassOf 'has_inheritance' some 'autosomal recessive'
http://www.orpha.net/ORDO/Orphanet_29207
Reactive arthritis
'Reactive arthritis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_486955
http://www.orpha.net/ORDO/Orphanet_119089
barttin CLCNK type accessory beta subunit
'barttin CLCNK type accessory beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'barttin CLCNK type accessory beta subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_171676
Periventricular leukomalacia
'Periventricular leukomalacia' SubClassOf 'part_of' some 'Rare neurologic disease'
'Periventricular leukomalacia' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_119068
BRCA1, DNA repair associated
'BRCA1, DNA repair associated' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Fanconi anemia'
http://www.orpha.net/ORDO/Orphanet_120054
transforming growth factor beta 3
'transforming growth factor beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
'transforming growth factor beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
http://www.orpha.net/ORDO/Orphanet_119066
B-Raf proto-oncogene, serine/threonine kinase
'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
'B-Raf proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
http://www.orpha.net/ORDO/Orphanet_79504
Ichthyosis hystrix gravior
'Ichthyosis hystrix gravior' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Ichthyosis hystrix gravior' SubClassOf 'disease'
'Ichthyosis hystrix gravior' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 11.0f)
'Ichthyosis hystrix gravior' SubClassOf 'part_of' some 'Keratinopathic ichthyosis'
'Ichthyosis hystrix gravior' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Ichthyosis hystrix gravior' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_159984
paroxysmal nonkinesigenic dyskinesia
'paroxysmal nonkinesigenic dyskinesia' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal non-kinesigenic dyskinesia'
'paroxysmal nonkinesigenic dyskinesia' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal non-kinesigenic dyskinesia'
http://www.orpha.net/ORDO/Orphanet_579
Mucopolysaccharidosis type 1
'Mucopolysaccharidosis type 1' SubClassOf ('present_in' some 'Korea, Republic of') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.21f)
'Mucopolysaccharidosis type 1' SubClassOf ('present_in' some 'United States') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.34f)
'Mucopolysaccharidosis type 1' SubClassOf ('present_in' some 'Switzerland') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.19f)
'Mucopolysaccharidosis type 1' SubClassOf ('present_in' some 'Saudi Arabia') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 3.62f)
'Mucopolysaccharidosis type 1' SubClassOf ('present_in' some 'Brazil') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.24f)
'Mucopolysaccharidosis type 1' SubClassOf ('present_in' some 'Japan') and ('has_birth_prevalence_range' some '1-9 / 1 000 000') and ('has_birth_prevalence_average_value' value 0.23f)
http://www.orpha.net/ORDO/Orphanet_122654
inhibitor of growth family member 1
'inhibitor of growth family member 1' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Squamous cell carcinoma of head and neck'
'inhibitor of growth family member 1' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_494550
'inhibitor of growth family member 1' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_502363
'inhibitor of growth family member 1' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_500481
'inhibitor of growth family member 1' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_500464
'inhibitor of growth family member 1' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_494547
'inhibitor of growth family member 1' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_502366
'inhibitor of growth family member 1' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_500478
http://www.orpha.net/ORDO/Orphanet_123982
OFD1, centriole and centriolar satellite protein
'OFD1, centriole and centriolar satellite protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Simpson-Golabi-Behmel syndrome type 2'
'OFD1, centriole and centriolar satellite protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome'
http://www.orpha.net/ORDO/Orphanet_422270
calmodulin 2
'calmodulin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
'calmodulin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
http://www.orpha.net/ORDO/Orphanet_123974
OCA2 melanosomal transmembrane protein
'OCA2 melanosomal transmembrane protein' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
'OCA2 melanosomal transmembrane protein' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
'OCA2 melanosomal transmembrane protein' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
'OCA2 melanosomal transmembrane protein' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
http://www.orpha.net/ORDO/Orphanet_123961
neurotrophic receptor tyrosine kinase 1
'neurotrophic receptor tyrosine kinase 1' SubClassOf 'Candidate gene tested in' some 'Hereditary sensory and autonomic neuropathy type 5'
'neurotrophic receptor tyrosine kinase 1' SubClassOf 'Candidate gene tested in' some 'Hereditary sensory and autonomic neuropathy type 5'
http://www.orpha.net/ORDO/Orphanet_364766
mitochondrially encoded tRNA asparagine
'mitochondrially encoded tRNA asparagine' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited progressive external ophthalmoplegia'
'mitochondrially encoded tRNA asparagine' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited progressive external ophthalmoplegia'
http://www.orpha.net/ORDO/Orphanet_120015
tectorin alpha
'tectorin alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'tectorin alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'tectorin alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'tectorin alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_159918
activin A receptor type 2B
'activin A receptor type 2B' SubClassOf 'Major susceptibility factor in' some 'Situs ambiguus'
'activin A receptor type 2B' SubClassOf 'Major susceptibility factor in' some 'Situs ambiguus'
http://www.orpha.net/ORDO/Orphanet_159915
small nucleolar RNA, C/D box 115 cluster
'small nucleolar RNA, C/D box 115 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to imprinting mutation'
'small nucleolar RNA, C/D box 115 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
'small nucleolar RNA, C/D box 115 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
'small nucleolar RNA, C/D box 115 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to imprinting mutation'
'small nucleolar RNA, C/D box 115 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
'small nucleolar RNA, C/D box 115 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
http://www.orpha.net/ORDO/Orphanet_122932
keratin 83
'keratin 83' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Progressive symmetric erythrokeratodermia'
'keratin 83' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Progressive symmetric erythrokeratodermia'
http://www.orpha.net/ORDO/Orphanet_1702
Non-distal trisomy 13q
'Non-distal trisomy 13q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Non-distal trisomy 13q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_1713
17p11.2 microduplication syndrome
'17p11.2 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'17p11.2 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'17p11.2 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_276152
Multiple endocrine neoplasia type 4
'Multiple endocrine neoplasia type 4' SubClassOf 'has_AgeOfOnset' some 'Adult'
http://www.orpha.net/ORDO/Orphanet_1707
Distal trisomy 15q
'Distal trisomy 15q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Distal trisomy 15q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_1705
Distal trisomy 14q
'Distal trisomy 14q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Distal trisomy 14q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_1706
Mosaic trisomy 15
'Mosaic trisomy 15' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Mosaic trisomy 15' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Mosaic trisomy 15' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_1703
Mosaic trisomy 14
'Mosaic trisomy 14' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Mosaic trisomy 14' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_1716
Distal trisomy 18q
'Distal trisomy 18q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Distal trisomy 18q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_1717
Distal trisomy 19q
'Distal trisomy 19q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Distal trisomy 19q' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_122901
keratin 16
'keratin 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Epidermolytic palmoplantar keratoderma'
'keratin 16' SubClassOf 'Candidate gene tested in' some 'Epidermolytic palmoplantar keratoderma'
'keratin 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated focal non-epidermolytic palmoplantar keratoderma'
http://www.orpha.net/ORDO/Orphanet_300345
Autosomal systemic lupus erythematosus
'Autosomal systemic lupus erythematosus' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
http://www.orpha.net/ORDO/Orphanet_265487
dpy-19 like 2
'dpy-19 like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia'
'dpy-19 like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia'
http://www.orpha.net/ORDO/Orphanet_300359
PLCG2-associated antibody deficiency and immune dysregulation
'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
http://www.orpha.net/ORDO/Orphanet_120315
TSC complex subunit 2
'TSC complex subunit 2' SubClassOf 'Candidate gene tested in' some 'Adult hepatocellular carcinoma'
'TSC complex subunit 2' SubClassOf 'Candidate gene tested in' some 'Adult hepatocellular carcinoma'
http://www.orpha.net/ORDO/Orphanet_363972
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_291751
distal-less homeobox 5
'distal-less homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation'
'distal-less homeobox 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation'
http://www.orpha.net/ORDO/Orphanet_120309
TSC complex subunit 1
'TSC complex subunit 1' SubClassOf 'Candidate gene tested in' some 'Adult hepatocellular carcinoma'
'TSC complex subunit 1' SubClassOf 'Candidate gene tested in' some 'Adult hepatocellular carcinoma'
http://www.orpha.net/ORDO/Orphanet_363992
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 4.0f)
'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 7.0f)
http://www.orpha.net/ORDO/Orphanet_119306
cyclin dependent kinase inhibitor 2A
'cyclin dependent kinase inhibitor 2A' SubClassOf 'Candidate gene tested in' some 'Li-Fraumeni syndrome'
http://www.orpha.net/ORDO/Orphanet_494451
Vulvar basal cell carcinoma
'Vulvar basal cell carcinoma' SubClassOf 'part_of' some 'Rare vulvovaginal tumor'
'Vulvar basal cell carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adult'
'Vulvar basal cell carcinoma' SubClassOf 'has_AgeOfOnset' some 'Elderly'
'Vulvar basal cell carcinoma' SubClassOf 'part_of' some 'Vulvar carcinoma'
http://www.orpha.net/ORDO/Orphanet_494454
Vulvar adenocarcinoma
'Vulvar adenocarcinoma' SubClassOf 'part_of' some 'Rare vulvovaginal tumor'
'Vulvar adenocarcinoma' SubClassOf 'part_of' some 'Vulvar carcinoma'
'Vulvar adenocarcinoma' SubClassOf 'has_AgeOfOnset' some 'Elderly'
'Vulvar adenocarcinoma' SubClassOf 'has_AgeOfOnset' some 'Adult'
http://www.orpha.net/ORDO/Orphanet_494448
Vulvar squamous cell carcinoma
'Vulvar squamous cell carcinoma' SubClassOf 'part_of' some 'Rare vulvovaginal tumor'
'Vulvar squamous cell carcinoma' SubClassOf 'has_AgeOfOnset' some 'Elderly'
'Vulvar squamous cell carcinoma' SubClassOf 'has_AgeOfOnset' some 'Adult'
'Vulvar squamous cell carcinoma' SubClassOf 'part_of' some 'Vulvar carcinoma'
http://www.orpha.net/ORDO/Orphanet_93293
Okihiro syndrome
'Okihiro syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_252128
Malignant peripheral nerve sheath tumor with perineurial differentiation
'Malignant peripheral nerve sheath tumor with perineurial differentiation' SubClassOf 'part_of' some 'Malignant peripheral nerve sheath tumor'
'Malignant peripheral nerve sheath tumor with perineurial differentiation' SubClassOf 'histopathological subtype'
'Malignant peripheral nerve sheath tumor with perineurial differentiation' SubClassOf 'disease'
'Malignant peripheral nerve sheath tumor with perineurial differentiation' SubClassOf 'Malignant peripheral nerve sheath tumor'
http://www.orpha.net/ORDO/Orphanet_93270
Short rib-polydactyly syndrome, Saldino-Noonan type
'Short rib-polydactyly syndrome, Saldino-Noonan type' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_291703
proline rich transmembrane protein 2
'proline rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal non-kinesigenic dyskinesia'
'proline rich transmembrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Paroxysmal non-kinesigenic dyskinesia'
http://www.orpha.net/ORDO/Orphanet_118099
presenilin 1
'presenilin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive non-fluent aphasia'
'presenilin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semantic dementia'
'presenilin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progressive non-fluent aphasia'
'presenilin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Semantic dementia'
http://www.orpha.net/ORDO/Orphanet_419164
syntaxin 1B
'syntaxin 1B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus'
'syntaxin 1B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized epilepsy with febrile seizures-plus'
http://www.orpha.net/ORDO/Orphanet_228429
Generalized congenital lipodystrophy with myopathy
'Generalized congenital lipodystrophy with myopathy' SubClassOf 'part_of' some 'Non-dystrophic myopathy'
'Generalized congenital lipodystrophy with myopathy' SubClassOf 'has_inheritance' some 'autosomal recessive'
'Generalized congenital lipodystrophy with myopathy' SubClassOf 'part_of' some 'Rare insulin-resistance syndrome'
'Generalized congenital lipodystrophy with myopathy' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 22.0f)
'Generalized congenital lipodystrophy with myopathy' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Generalized congenital lipodystrophy with myopathy' SubClassOf 'part_of' some 'Genetic lipodystrophy'
'Generalized congenital lipodystrophy with myopathy' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease'
'Generalized congenital lipodystrophy with myopathy' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Generalized congenital lipodystrophy with myopathy' SubClassOf 'disease'
'Generalized congenital lipodystrophy with myopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Generalized congenital lipodystrophy with myopathy' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_892
Von Hippel-Lindau disease
'Von Hippel-Lindau disease' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
'Von Hippel-Lindau disease' SubClassOf 'has_AgeOfOnset' some 'Childhood'
http://www.orpha.net/ORDO/Orphanet_494444
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
'DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant'
http://www.orpha.net/ORDO/Orphanet_1788
Acrofacial dysostosis, Rodríguez type
'Acrofacial dysostosis, Rodríguez type' SubClassOf 'has_inheritance' some 'autosomal dominant'
http://www.orpha.net/ORDO/Orphanet_183924
mitochondrially encoded tRNA leucine 2 (CUN)
'mitochondrially encoded tRNA leucine 2 (CUN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited progressive external ophthalmoplegia'
'mitochondrially encoded tRNA leucine 2 (CUN)' SubClassOf 'Disease-causing germline mutation(s) in' some 'Maternally-inherited progressive external ophthalmoplegia'
http://www.orpha.net/ORDO/Orphanet_494439
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
'Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly'
'Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
'Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Dysostosis with brachydactyly with extraskeletal manifestations'
http://www.orpha.net/ORDO/Orphanet_494433
MIRAGE syndrome
'MIRAGE syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant'
http://www.orpha.net/ORDO/Orphanet_119359
cripto, FRL-1, cryptic family 1
'cripto, FRL-1, cryptic family 1' SubClassOf 'Candidate gene tested in' some 'Isolated congenitally uncorrected transposition of the great arteries'
'cripto, FRL-1, cryptic family 1' SubClassOf 'Candidate gene tested in' some 'Situs ambiguus'
'cripto, FRL-1, cryptic family 1' SubClassOf 'Candidate gene tested in' some 'Isolated congenitally uncorrected transposition of the great arteries'
'cripto, FRL-1, cryptic family 1' SubClassOf 'Candidate gene tested in' some 'Situs ambiguus'
http://www.orpha.net/ORDO/Orphanet_120345
twist family bHLH transcription factor 1
'twist family bHLH transcription factor 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Saethre-Chotzen syndrome'
'twist family bHLH transcription factor 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Saethre-Chotzen syndrome'
http://www.orpha.net/ORDO/Orphanet_1795
Peripheral dysostosis
'Peripheral dysostosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_183933
Wnt family member 10B
'Wnt family member 10B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation'
'Wnt family member 10B' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation'
http://www.orpha.net/ORDO/Orphanet_168312
nuclear receptor subfamily 5 group A member 1
'nuclear receptor subfamily 5 group A member 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
'nuclear receptor subfamily 5 group A member 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
http://www.orpha.net/ORDO/Orphanet_120320
thyroid stimulating hormone receptor
'thyroid stimulating hormone receptor' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Athyreosis'
'thyroid stimulating hormone receptor' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Athyreosis'
http://www.orpha.net/ORDO/Orphanet_120326
titin
'titin' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
'titin' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
http://www.orpha.net/ORDO/Orphanet_121654
EYA transcriptional coactivator and phosphatase 4
'EYA transcriptional coactivator and phosphatase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'EYA transcriptional coactivator and phosphatase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_457490
Dmx like 2
'Dmx like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'Dmx like 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_458792
Mixed cystic lymphatic malformation
'Mixed cystic lymphatic malformation' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Mixed cystic lymphatic malformation' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_69665
Intrahepatic cholestasis of pregnancy
'Intrahepatic cholestasis of pregnancy' SubClassOf ('has_annual_incidence_range' some '1 / 1000') and ('present_in' some 'Europe') and ('has_annual_incidence_average_value' value 1000.0f)
http://www.orpha.net/ORDO/Orphanet_828
Stickler syndrome
'Stickler syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Stickler syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_119394
checkpoint kinase 2
'checkpoint kinase 2' SubClassOf 'Candidate gene tested in' some 'Li-Fraumeni syndrome'
'checkpoint kinase 2' SubClassOf 'Candidate gene tested in' some 'Li-Fraumeni syndrome'
http://www.orpha.net/ORDO/Orphanet_396032
adenosine deaminase 2
'adenosine deaminase 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Sneddon syndrome'
'adenosine deaminase 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Sneddon syndrome'
http://www.orpha.net/ORDO/Orphanet_1759
Thoraco-abdominal enteric duplication
'Thoraco-abdominal enteric duplication' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_119382
cystic fibrosis transmembrane conductance regulator
'cystic fibrosis transmembrane conductance regulator' SubClassOf 'Candidate gene tested in' some 'Idiopathic bronchiectasis'
'cystic fibrosis transmembrane conductance regulator' SubClassOf 'Candidate gene tested in' some 'Idiopathic bronchiectasis'
'cystic fibrosis transmembrane conductance regulator' SubClassOf 'Candidate gene tested in' some http://www.orpha.net/ORDO/Orphanet_498359
http://www.orpha.net/ORDO/Orphanet_853
Fetal and neonatal alloimmune thrombocytopenia
'Fetal and neonatal alloimmune thrombocytopenia' SubClassOf ('present_in' some 'Europe') and ('has_birth_prevalence_range' some '1 / 1000') and ('has_birth_prevalence_average_value' value 112.5f)
'Fetal and neonatal alloimmune thrombocytopenia' SubClassOf ('present_in' some 'Worldwide') and ('has_birth_prevalence_range' some '1 / 1000')
http://www.orpha.net/ORDO/Orphanet_1779
Dysmorphism-cleft palate-loose skin syndrome
'Dysmorphism-cleft palate-loose skin syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Dysmorphism-cleft palate-loose skin syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_2907
Hereditary acrokeratotic poikiloderma, Weary type
'Hereditary acrokeratotic poikiloderma, Weary type' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_311140
SKI proto-oncogene
'SKI proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Shprintzen-Goldberg syndrome'
'SKI proto-oncogene' SubClassOf 'Disease-causing germline mutation(s) in' some 'Shprintzen-Goldberg syndrome'
http://www.orpha.net/ORDO/Orphanet_289377
Early-onset myopathy with fatal cardiomyopathy
'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Early-onset myopathy with fatal cardiomyopathy' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_300496
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 5.0f)
'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 15.0f)
'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_252057
Tumor of cranial and spinal nerves
'Tumor of cranial and spinal nerves' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 1.89f)
http://www.orpha.net/ORDO/Orphanet_2926
Digital extensor muscle aplasia-polyneuropathy
'Digital extensor muscle aplasia-polyneuropathy' SubClassOf 'part_of' some 'Hereditary motor and sensory neuropathy'
'Digital extensor muscle aplasia-polyneuropathy' SubClassOf 'part_of' some 'Charcot-Marie-Tooth disease'
http://www.orpha.net/ORDO/Orphanet_2925
Polymicrogyria-turricephaly-hypogenitalism syndrome
'Polymicrogyria-turricephaly-hypogenitalism syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
'Polymicrogyria-turricephaly-hypogenitalism syndrome' SubClassOf 'malformation syndrome'
'Polymicrogyria-turricephaly-hypogenitalism syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
'Polymicrogyria-turricephaly-hypogenitalism syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 1.0f)
'Polymicrogyria-turricephaly-hypogenitalism syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Polymicrogyria-turricephaly-hypogenitalism syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Polymicrogyria-turricephaly-hypogenitalism syndrome' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_95716
Familial thyroid dyshormonogenesis
'Familial thyroid dyshormonogenesis' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Familial thyroid dyshormonogenesis' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_95720
Thyroid hypoplasia
'Thyroid hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Thyroid hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_122821
potassium voltage-gated channel subfamily Q member 4
'potassium voltage-gated channel subfamily Q member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'potassium voltage-gated channel subfamily Q member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_227077
myosin binding protein C, slow type
'myosin binding protein C, slow type' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_498693
http://www.orpha.net/ORDO/Orphanet_227071
taperin
'taperin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'taperin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_168165
left-right determination factor 2
'left-right determination factor 2' SubClassOf 'Major susceptibility factor in' some 'Situs ambiguus'
'left-right determination factor 2' SubClassOf 'Major susceptibility factor in' some 'Situs ambiguus'
http://www.orpha.net/ORDO/Orphanet_252028
Primary melanocytic tumor of central nervous system
'Primary melanocytic tumor of central nervous system' SubClassOf ('has_annual_incidence_range' some '1 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.01f)
http://www.orpha.net/ORDO/Orphanet_93164
Transient pseudohypoaldosteronism
'Transient pseudohypoaldosteronism' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_227086
caveolae associated protein 1
'caveolae associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Generalized congenital lipodystrophy with myopathy'
'caveolae associated protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Berardinelli-Seip congenital lipodystrophy'
http://www.orpha.net/ORDO/Orphanet_445555
matrix metallopeptidase 21
'matrix metallopeptidase 21' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Situs ambiguus'
'matrix metallopeptidase 21' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Situs ambiguus'
http://www.orpha.net/ORDO/Orphanet_756
Pseudohypoaldosteronism type 1
'Pseudohypoaldosteronism type 1' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 70.0f)
'Pseudohypoaldosteronism type 1' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 107.0f)
http://www.orpha.net/ORDO/Orphanet_755
Leydig cell hypoplasia
'Leydig cell hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_763
Pycnodysostosis
'Pycnodysostosis' SubClassOf 'has_AgeOfOnset' some 'All ages'
'Pycnodysostosis' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
'Pycnodysostosis' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Pycnodysostosis' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Pycnodysostosis' SubClassOf 'has_AgeOfOnset' some 'Adult'
http://www.orpha.net/ORDO/Orphanet_761
Immunoglobulin A vasculitis
'Immunoglobulin A vasculitis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280369
http://www.orpha.net/ORDO/Orphanet_778
Rett syndrome
'Rett syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_774
Hereditary hemorrhagic telangiectasia
'Hereditary hemorrhagic telangiectasia' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-5 / 10 000')
'Hereditary hemorrhagic telangiectasia' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 20.0f)
http://www.orpha.net/ORDO/Orphanet_768
Familial long QT syndrome
'Familial long QT syndrome' SubClassOf 'disease'
'Familial long QT syndrome' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease'
'Familial long QT syndrome' SubClassOf 'Genetic cardiac rhythm disease'
'Familial long QT syndrome' SubClassOf 'group of disorders'
http://www.orpha.net/ORDO/Orphanet_783
Rubinstein-Taybi syndrome
'Rubinstein-Taybi syndrome' SubClassOf 'has_AgeOfOnset' some 'All ages'
'Rubinstein-Taybi syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Rubinstein-Taybi syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_132262
fibroblast growth factor receptor 2
'fibroblast growth factor receptor 2' SubClassOf 'Candidate gene tested in' some 'Saethre-Chotzen syndrome'
'fibroblast growth factor receptor 2' SubClassOf 'Candidate gene tested in' some 'Saethre-Chotzen syndrome'
http://www.orpha.net/ORDO/Orphanet_797
Sarcoidosis
'Sarcoidosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
http://www.orpha.net/ORDO/Orphanet_122879
KRAS proto-oncogene, GTPase
'KRAS proto-oncogene, GTPase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
'KRAS proto-oncogene, GTPase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
http://www.orpha.net/ORDO/Orphanet_495875
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
'Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
http://www.orpha.net/ORDO/Orphanet_494541
Childhood-onset benign chorea with striatal involvement
'Childhood-onset benign chorea with striatal involvement' SubClassOf 'has_inheritance' some 'autosomal dominant'
http://www.orpha.net/ORDO/Orphanet_120207
tumor protein p63
'tumor protein p63' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation'
'tumor protein p63' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation'
http://www.orpha.net/ORDO/Orphanet_120204
tumor protein p53
'tumor protein p53' SubClassOf 'Candidate gene tested in' some 'Adult hepatocellular carcinoma'
'tumor protein p53' SubClassOf 'Disease-causing germline mutation(s) in' some 'Li-Fraumeni syndrome'
'tumor protein p53' SubClassOf 'Candidate gene tested in' some 'Adult hepatocellular carcinoma'
'tumor protein p53' SubClassOf 'Disease-causing germline mutation(s) in' some 'Li-Fraumeni syndrome'
http://www.orpha.net/ORDO/Orphanet_1698
Mosaic trisomy 12
'Mosaic trisomy 12' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Mosaic trisomy 12' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Mosaic trisomy 12' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_1695
Non-distal trisomy 10q
'Non-distal trisomy 10q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_119281
cadherin related 23
'cadherin related 23' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'cadherin related 23' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_1636
Distal monosomy 7q36
'Distal monosomy 7q36' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Distal monosomy 7q36' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_2964
Autosomal dominant prognathism
'Autosomal dominant prognathism' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_1643
Xp22.3 microdeletion syndrome
'Xp22.3 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_2973
46,XX disorder of sex development-anorectal anomalies syndrome
'46,XX disorder of sex development-anorectal anomalies syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_730
Autosomal dominant polycystic kidney disease
'Autosomal dominant polycystic kidney disease' SubClassOf 'has_inheritance' some 'autosomal dominant'
http://www.orpha.net/ORDO/Orphanet_120249
triggering receptor expressed on myeloid cells 2
'triggering receptor expressed on myeloid cells 2' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
'triggering receptor expressed on myeloid cells 2' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
'triggering receptor expressed on myeloid cells 2' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
'triggering receptor expressed on myeloid cells 2' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
http://www.orpha.net/ORDO/Orphanet_1654
Natal teeth-intestinal pseudoobstruction-patent ductus syndrome
'Natal teeth-intestinal pseudoobstruction-patent ductus syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
'Natal teeth-intestinal pseudoobstruction-patent ductus syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Natal teeth-intestinal pseudoobstruction-patent ductus syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_206966
Mitochondrial myopathy
'Mitochondrial myopathy' SubClassOf 'Muscular lipidosis'
'Mitochondrial myopathy' SubClassOf 'Metabolic myopathy'
http://www.orpha.net/ORDO/Orphanet_727
Microscopic polyangiitis
'Microscopic polyangiitis' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 1.6f)
http://www.orpha.net/ORDO/Orphanet_1935
Early myoclonic encephalopathy
'Early myoclonic encephalopathy' SubClassOf 'has_inheritance' some 'autosomal dominant'
http://www.orpha.net/ORDO/Orphanet_79142
Familial Dupuytren contracture
'Familial Dupuytren contracture' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_121839
folliculin
'folliculin' SubClassOf 'Candidate gene tested in' some 'Hereditary clear cell renal cell carcinoma'
'folliculin' SubClassOf 'Candidate gene tested in' some 'Hereditary clear cell renal cell carcinoma'
http://www.orpha.net/ORDO/Orphanet_287069
bone morphogenetic protein 1
'bone morphogenetic protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'High bone mass osteogenesis imperfecta'
http://www.orpha.net/ORDO/Orphanet_79140
Cutaneous neuroendocrine carcinoma
'Cutaneous neuroendocrine carcinoma' SubClassOf 'has_AgeOfOnset' some 'Elderly'
http://www.orpha.net/ORDO/Orphanet_326742
clathrin heavy chain
'clathrin heavy chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability'
'clathrin heavy chain' SubClassOf 'Disease-causing germline mutation(s) in' some 'Undetermined early-onset epileptic encephalopathy'
http://www.orpha.net/ORDO/Orphanet_121826
fragile histidine triad
'fragile histidine triad' SubClassOf 'Part of a fusion gene in' some 'Hereditary clear cell renal cell carcinoma'
'fragile histidine triad' SubClassOf 'Part of a fusion gene in' some 'Hereditary clear cell renal cell carcinoma'
http://www.orpha.net/ORDO/Orphanet_121815
fibroblast growth factor receptor 3
'fibroblast growth factor receptor 3' SubClassOf 'Candidate gene tested in' some 'Saethre-Chotzen syndrome'
'fibroblast growth factor receptor 3' SubClassOf 'Candidate gene tested in' some 'Saethre-Chotzen syndrome'
http://www.orpha.net/ORDO/Orphanet_79118
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
'Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_120554
WW domain containing oxidoreductase
'WW domain containing oxidoreductase' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
'WW domain containing oxidoreductase' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
http://www.orpha.net/ORDO/Orphanet_120549
Wilms tumor 1
'Wilms tumor 1' SubClassOf 'Candidate gene tested in' some '46,XY partial gonadal dysgenesis'
'Wilms tumor 1' SubClassOf 'Candidate gene tested in' some '46,XY partial gonadal dysgenesis'
http://www.orpha.net/ORDO/Orphanet_121872
fms related tyrosine kinase 4
'fms related tyrosine kinase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Milroy disease'
'fms related tyrosine kinase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Milroy disease'
http://www.orpha.net/ORDO/Orphanet_93426
Short rib dysplasia
'Short rib dysplasia' SubClassOf 'Rare bone disease related to a common gene or pathway defect'
http://www.orpha.net/ORDO/Orphanet_120514
wolframin ER transmembrane glycoprotein
'wolframin ER transmembrane glycoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'wolframin ER transmembrane glycoprotein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_227397
protein tyrosine phosphatase, receptor type Q
'protein tyrosine phosphatase, receptor type Q' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'protein tyrosine phosphatase, receptor type Q' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_410627
alpha-2-macroglobulin like 1
'alpha-2-macroglobulin like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
'alpha-2-macroglobulin like 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
http://www.orpha.net/ORDO/Orphanet_180261
Phyllode tumor of the breast
'Phyllode tumor of the breast' SubClassOf 'part_of' some 'Rare malignant breast tumor'
http://www.orpha.net/ORDO/Orphanet_242924
tight junction protein 2
'tight junction protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'tight junction protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_410532
RHO family interacting cell polarization regulator 2
'RHO family interacting cell polarization regulator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'RHO family interacting cell polarization regulator 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_168563
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
'46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_169896
solute carrier family 17 member 8
'solute carrier family 17 member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'solute carrier family 17 member 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_410540
vesicle associated membrane protein 7
'vesicle associated membrane protein 7' SubClassOf 'Role in the phenotype of' some '46,XY partial gonadal dysgenesis'
'vesicle associated membrane protein 7' SubClassOf 'Role in the phenotype of' some '46,XY partial gonadal dysgenesis'
http://www.orpha.net/ORDO/Orphanet_120598
zinc finger protein, FOG family member 2
'zinc finger protein, FOG family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
'zinc finger protein, FOG family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
http://www.orpha.net/ORDO/Orphanet_470228
doublesex and mab-3 related transcription factor 3
'doublesex and mab-3 related transcription factor 3' SubClassOf 'Candidate gene tested in' some '46,XY partial gonadal dysgenesis'
'doublesex and mab-3 related transcription factor 3' SubClassOf 'Candidate gene tested in' some '46,XY partial gonadal dysgenesis'
http://www.orpha.net/ORDO/Orphanet_121895
forkhead box E1
'forkhead box E1' SubClassOf 'Candidate gene tested in' some 'Athyreosis'
'forkhead box E1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial papillary or follicular thyroid carcinoma'
'forkhead box E1' SubClassOf 'Candidate gene tested in' some 'Athyreosis'
'forkhead box E1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial papillary or follicular thyroid carcinoma'
http://www.orpha.net/ORDO/Orphanet_470220
distal-less homeobox 6
'distal-less homeobox 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation'
'distal-less homeobox 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Split hand-split foot malformation'
http://www.orpha.net/ORDO/Orphanet_457252
Squamous cell carcinoma of the oral tongue
'Squamous cell carcinoma of the oral tongue' SubClassOf 'part_of' some 'Rare head and neck tumor'
'Squamous cell carcinoma of the oral tongue' SubClassOf 'disease'
'Squamous cell carcinoma of the oral tongue' SubClassOf 'has_inheritance' some 'not inherited'
http://www.orpha.net/ORDO/Orphanet_361157
sodium voltage-gated channel beta subunit 2
'sodium voltage-gated channel beta subunit 2' SubClassOf 'Candidate gene tested in' some 'Brugada syndrome'
'sodium voltage-gated channel beta subunit 2' SubClassOf 'Candidate gene tested in' some 'Brugada syndrome'
http://www.orpha.net/ORDO/Orphanet_1987
Femoral agenesis/hypoplasia
'Femoral agenesis/hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Femoral agenesis/hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_79213
Mucopolysaccharidosis
'Mucopolysaccharidosis' SubClassOf ('present_in' some 'Europe') and ('has_birth_prevalence_range' some '1-9 / 100 000')
'Mucopolysaccharidosis' SubClassOf ('present_in' some 'Worldwide') and ('has_birth_prevalence_range' some '1-9 / 100 000')
'Mucopolysaccharidosis' SubClassOf ('present_in' some 'United States') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 1.2f)
'Mucopolysaccharidosis' SubClassOf ('present_in' some 'Japan') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 1.53f)
'Mucopolysaccharidosis' SubClassOf ('present_in' some 'Europe') and ('has_birth_prevalence_range' some '1-9 / 100 000')
'Mucopolysaccharidosis' SubClassOf ('present_in' some 'Korea, Republic of') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 1.35f)
'Mucopolysaccharidosis' SubClassOf ('present_in' some 'Saudi Arabia') and ('has_birth_prevalence_range' some '1-5 / 10 000') and ('has_birth_prevalence_average_value' value 16.9f)
'Mucopolysaccharidosis' SubClassOf ('present_in' some 'Brazil') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 1.04f)
'Mucopolysaccharidosis' SubClassOf ('present_in' some 'Worldwide') and ('has_birth_prevalence_range' some '1-9 / 100 000')
'Mucopolysaccharidosis' SubClassOf ('present_in' some 'Switzerland') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 1.56f)
http://www.orpha.net/ORDO/Orphanet_67037
Squamous cell carcinoma of head and neck
'Squamous cell carcinoma of head and neck' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 49.0f)
'Squamous cell carcinoma of head and neck' SubClassOf 'has_AgeOfOnset' some 'All ages'
'Squamous cell carcinoma of head and neck' SubClassOf 'has_inheritance' some 'multigenic/multifactorial'
'Squamous cell carcinoma of head and neck' SubClassOf 'disease'
'Squamous cell carcinoma of head and neck' SubClassOf 'has_inheritance' some 'not inherited'
'Squamous cell carcinoma of head and neck' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'Worldwide') and ('has_annual_incidence_average_value' value 8.7f)
'Squamous cell carcinoma of head and neck' SubClassOf 'part_of' some 'Rare head and neck tumor'
'Squamous cell carcinoma of head and neck' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 1.7f)
http://www.orpha.net/ORDO/Orphanet_1822
Dysplasia epiphysealis hemimelica
'Dysplasia epiphysealis hemimelica' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Worldwide') and ('has_annual_incidence_average_value' value 0.1f)
'Dysplasia epiphysealis hemimelica' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Dysplasia epiphysealis hemimelica' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
http://www.orpha.net/ORDO/Orphanet_119407
charged multivesicular body protein 2B
'charged multivesicular body protein 2B' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
'charged multivesicular body protein 2B' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
'charged multivesicular body protein 2B' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
'charged multivesicular body protein 2B' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
http://www.orpha.net/ORDO/Orphanet_79022
Simpson-Golabi-Behmel syndrome type 2
'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'has_inheritance' some 'x-linked recessive'
'Simpson-Golabi-Behmel syndrome type 2' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
'Simpson-Golabi-Behmel syndrome type 2' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 9.0f)
http://www.orpha.net/ORDO/Orphanet_93352
Spondyloepimetaphyseal dysplasia, Shohat type
'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 4.0f)
'Spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 5.0f)
http://www.orpha.net/ORDO/Orphanet_1855
Spondyloenchondrodysplasia
'Spondyloenchondrodysplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
http://www.orpha.net/ORDO/Orphanet_120433
USH1 protein network component harmonin
'USH1 protein network component harmonin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'USH1 protein network component harmonin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_300208
calcium voltage-gated channel auxiliary subunit alpha2delta 1
'calcium voltage-gated channel auxiliary subunit alpha2delta 1' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome'
'calcium voltage-gated channel auxiliary subunit alpha2delta 1' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome'
http://www.orpha.net/ORDO/Orphanet_121752
fibrillin 1
'fibrillin 1' SubClassOf 'Candidate gene tested in' some 'Shprintzen-Goldberg syndrome'
'fibrillin 1' SubClassOf 'Candidate gene tested in' some 'Shprintzen-Goldberg syndrome'
http://www.orpha.net/ORDO/Orphanet_495680
golgi associated PDZ and coiled-coil motif containing
'golgi associated PDZ and coiled-coil motif containing' SubClassOf 'Candidate gene tested in' some 'Male infertility due to globozoospermia'
'golgi associated PDZ and coiled-coil motif containing' SubClassOf 'Candidate gene tested in' some 'Male infertility due to globozoospermia'
http://www.orpha.net/ORDO/Orphanet_444092
Autoimmune interstitial lung disease-arthritis syndrome
'Autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
http://www.orpha.net/ORDO/Orphanet_494344
RERE-related neurodevelopmental syndrome
'RERE-related neurodevelopmental syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant'
http://www.orpha.net/ORDO/Orphanet_1801
Kyphomelic dysplasia
'Kyphomelic dysplasia' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Kyphomelic dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_79091
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
'Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 20.0f)
'Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
'Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 21.0f)
http://www.orpha.net/ORDO/Orphanet_983
Testicular regression syndrome
'Testicular regression syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Testicular regression syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_435998
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
'Autosomal recessive intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'has_AgeOfOnset' some 'Adult'
'Autosomal recessive intermediate Charcot-Marie-Tooth disease type D' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 3.0f)
'Autosomal recessive intermediate Charcot-Marie-Tooth disease type D' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 4.0f)
'Autosomal recessive intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'has_AgeOfOnset' some 'Childhood'
http://www.orpha.net/ORDO/Orphanet_988
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
'Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_265505
carcinoembryonic antigen related cell adhesion molecule 16
'carcinoembryonic antigen related cell adhesion molecule 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'carcinoembryonic antigen related cell adhesion molecule 16' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_423975
Neuroendocrine tumor of the small intestine
'Neuroendocrine tumor of the small intestine' SubClassOf http://www.orpha.net/ORDO/Orphanet_481508
http://www.orpha.net/ORDO/Orphanet_118143
protein tyrosine phosphatase, non-receptor type 11
'protein tyrosine phosphatase, non-receptor type 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
'protein tyrosine phosphatase, non-receptor type 11' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
http://www.orpha.net/ORDO/Orphanet_314938
thrombospondin type laminin G domain and EAR repeats
'thrombospondin type laminin G domain and EAR repeats' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'thrombospondin type laminin G domain and EAR repeats' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_120461
valosin containing protein
'valosin containing protein' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
'valosin containing protein' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
http://www.orpha.net/ORDO/Orphanet_905
Wilson disease
'Wilson disease' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'Germany') and ('has_annual_incidence_average_value' value 2.9f)
'Wilson disease' SubClassOf ('present_in' some 'Germany') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 2.9f)
http://www.orpha.net/ORDO/Orphanet_302951
potassium voltage-gated channel subfamily D member 3
'potassium voltage-gated channel subfamily D member 3' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Brugada syndrome'
'potassium voltage-gated channel subfamily D member 3' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Brugada syndrome'
http://www.orpha.net/ORDO/Orphanet_900
Granulomatosis with polyangiitis
'Granulomatosis with polyangiitis' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 1.3f)
http://www.orpha.net/ORDO/Orphanet_913
Zollinger-Ellison syndrome
'Zollinger-Ellison syndrome' SubClassOf 'part_of' some 'Pancreatic neuroendocrine tumor'
'Zollinger-Ellison syndrome' SubClassOf 'has_AgeOfOnset' some 'Elderly'
'Zollinger-Ellison syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_506060
http://www.orpha.net/ORDO/Orphanet_168420
nucleoporin 214
'nucleoporin 214' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia'
http://www.orpha.net/ORDO/Orphanet_470342
flavin adenine dinucleotide synthetase 1
'flavin adenine dinucleotide synthetase 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type'
http://www.orpha.net/ORDO/Orphanet_444077
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
'Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly'
'Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome' SubClassOf 'part_of' some 'Dysostosis with brachydactyly with extraskeletal manifestations'
http://www.orpha.net/ORDO/Orphanet_118128
phosphatase and tensin homolog
'phosphatase and tensin homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Squamous cell carcinoma of head and neck'
'phosphatase and tensin homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_502366
'phosphatase and tensin homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_494547
'phosphatase and tensin homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_500464
'phosphatase and tensin homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_500478
'phosphatase and tensin homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_494550
'phosphatase and tensin homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_500481
'phosphatase and tensin homolog' SubClassOf 'Disease-causing somatic mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_502363
http://www.orpha.net/ORDO/Orphanet_118126
patched 2
'patched 2' SubClassOf 'Candidate gene tested in' some 'Gorlin syndrome'
'patched 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gorlin syndrome'
http://www.orpha.net/ORDO/Orphanet_956
Acropectororenal dysplasia
'Acropectororenal dysplasia' SubClassOf 'has_inheritance' some 'not inherited'
'Acropectororenal dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Acropectororenal dysplasia' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Acropectororenal dysplasia' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 12.0f)
http://www.orpha.net/ORDO/Orphanet_955
Acroosteolysis dominant type
'Acroosteolysis dominant type' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_486955
http://www.orpha.net/ORDO/Orphanet_474429
podocalyxin like
'podocalyxin like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Atypical juvenile parkinsonism'
http://www.orpha.net/ORDO/Orphanet_437465
hyaluronan binding protein 2
'hyaluronan binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial papillary or follicular thyroid carcinoma'
'hyaluronan binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial papillary or follicular thyroid carcinoma'
http://www.orpha.net/ORDO/Orphanet_498488
Overgrowth syndrome with 2q37 translocations
'Overgrowth syndrome with 2q37 translocations' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Overgrowth syndrome with 2q37 translocations' SubClassOf 'part_of' some 'Complex chromosomal rearrangement'
'Overgrowth syndrome with 2q37 translocations' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 4.0f)
'Overgrowth syndrome with 2q37 translocations' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Overgrowth syndrome with 2q37 translocations' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
http://www.orpha.net/ORDO/Orphanet_498485
Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
'Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 4.0f)
'Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_498481
LRP5-related primary osteoporosis
'LRP5-related primary osteoporosis' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
'LRP5-related primary osteoporosis' SubClassOf 'has_AgeOfOnset' some 'Childhood'
http://www.orpha.net/ORDO/Orphanet_485177
transmembrane protein 106B
'transmembrane protein 106B' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
'transmembrane protein 106B' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
'transmembrane protein 106B' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
'transmembrane protein 106B' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
http://www.orpha.net/ORDO/Orphanet_498474
Hyaline fibromatosis syndrome
'Hyaline fibromatosis syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Hyaline fibromatosis syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Hyaline fibromatosis syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 150.0f)
'Hyaline fibromatosis syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Hyaline fibromatosis syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood'
http://www.orpha.net/ORDO/Orphanet_138895
mitochondrially encoded tRNA leucine 1 (UUA/G)
'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Candidate gene tested in' some 'Maternally-inherited progressive external ophthalmoplegia'
'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Candidate gene tested in' some 'Kearns-Sayre syndrome'
'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Candidate gene tested in' some 'Maternally-inherited progressive external ophthalmoplegia'
'mitochondrially encoded tRNA leucine 1 (UUA/G)' SubClassOf 'Candidate gene tested in' some 'Kearns-Sayre syndrome'
http://www.orpha.net/ORDO/Orphanet_162521
Congenital nasal pyriform aperture stenosis with holoprosencephaly
'Congenital nasal pyriform aperture stenosis with holoprosencephaly' SubClassOf 'part_of' some 'Nose and cavum anomaly'
'Congenital nasal pyriform aperture stenosis with holoprosencephaly' SubClassOf 'malformation syndrome'
'Congenital nasal pyriform aperture stenosis with holoprosencephaly' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_162516
Isolated congenital nasal pyriform aperture stenosis
'Isolated congenital nasal pyriform aperture stenosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_330683
purinergic receptor P2X 2
'purinergic receptor P2X 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'purinergic receptor P2X 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_330673
regulator of telomere elongation helicase 1
'regulator of telomere elongation helicase 1' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
'regulator of telomere elongation helicase 1' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
http://www.orpha.net/ORDO/Orphanet_137658
Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
'Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 3.0f)
'Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'malformation syndrome'
'Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
'Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature'
'Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_137653
Microcephaly-digital anomalies-intellectual disability syndrome
'Microcephaly-digital anomalies-intellectual disability syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
'Microcephaly-digital anomalies-intellectual disability syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
'Microcephaly-digital anomalies-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Microcephaly-digital anomalies-intellectual disability syndrome' SubClassOf 'part_of' some 'Syndrome with microcephaly as major feature'
'Microcephaly-digital anomalies-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Microcephaly-digital anomalies-intellectual disability syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Microcephaly-digital anomalies-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'Microcephaly-digital anomalies-intellectual disability syndrome' SubClassOf 'malformation syndrome'
'Microcephaly-digital anomalies-intellectual disability syndrome' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_316377
calcium binding protein 2
'calcium binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'calcium binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_90647
Jervell and Lange-Nielsen syndrome
'Jervell and Lange-Nielsen syndrome' SubClassOf 'clinical subtype'
'Jervell and Lange-Nielsen syndrome' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_391646
Feingold syndrome type 2
'Feingold syndrome type 2' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 3.0f)
'Feingold syndrome type 2' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 7.0f)
http://www.orpha.net/ORDO/Orphanet_402736
spalt like transcription factor 2
'spalt like transcription factor 2' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia'
http://www.orpha.net/ORDO/Orphanet_123010
LIM domain binding 3
'LIM domain binding 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
'LIM domain binding 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
http://www.orpha.net/ORDO/Orphanet_330631
beta-1,3-N-acetylgalactosaminyltransferase 2
'beta-1,3-N-acetylgalactosaminyltransferase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability'
http://www.orpha.net/ORDO/Orphanet_137608
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
'Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_316333
calcium and integrin binding family member 2
'calcium and integrin binding family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'calcium and integrin binding family member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_426776
poly(A)-specific ribonuclease
'poly(A)-specific ribonuclease' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
'poly(A)-specific ribonuclease' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
http://www.orpha.net/ORDO/Orphanet_99063
Shone complex
'Shone complex' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Shone complex' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Shone complex' SubClassOf 'has_AgeOfOnset' some 'Adult'
'Shone complex' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Shone complex' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 100.0f)
'Shone complex' SubClassOf 'has_AgeOfOnset' some 'Childhood'
http://www.orpha.net/ORDO/Orphanet_90650
Otopalatodigital syndrome type 1
'Otopalatodigital syndrome type 1' SubClassOf 'part_of' some 'Otopalatodigital syndrome'
'Otopalatodigital syndrome type 1' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome'
'Otopalatodigital syndrome type 1' SubClassOf 'part_of' some 'Syndromic genetic deafness'
'Otopalatodigital syndrome type 1' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations'
'Otopalatodigital syndrome type 1' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'Otopalatodigital syndrome type 1' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome'
'Otopalatodigital syndrome type 1' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability'
'Otopalatodigital syndrome type 1' SubClassOf 'part_of' some 'Otopalatodigital syndrome spectrum disorder'
'Otopalatodigital syndrome type 1' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component'
http://www.orpha.net/ORDO/Orphanet_90652
Otopalatodigital syndrome type 2
'Otopalatodigital syndrome type 2' SubClassOf 'part_of' some 'Otopalatodigital syndrome'
'Otopalatodigital syndrome type 2' SubClassOf 'part_of' some 'X-linked syndromic intellectual disability'
'Otopalatodigital syndrome type 2' SubClassOf 'part_of' some 'Branchial arch or oral-acral syndrome'
'Otopalatodigital syndrome type 2' SubClassOf 'part_of' some 'Genetic branchial arch or oral-acral syndrome'
'Otopalatodigital syndrome type 2' SubClassOf 'part_of' some 'Syndrome or malformation associated with head and neck malformations'
'Otopalatodigital syndrome type 2' SubClassOf 'part_of' some 'Otopalatodigital syndrome spectrum disorder'
'Otopalatodigital syndrome type 2' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'Otopalatodigital syndrome type 2' SubClassOf 'part_of' some 'Malformation syndrome with odontal and/or periodontal component'
'Otopalatodigital syndrome type 2' SubClassOf 'part_of' some 'Syndromic genetic deafness'
http://www.orpha.net/ORDO/Orphanet_268049
mucin 5B, oligomeric mucus/gel-forming
'mucin 5B, oligomeric mucus/gel-forming' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
'mucin 5B, oligomeric mucus/gel-forming' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
http://www.orpha.net/ORDO/Orphanet_221356
lipoxygenase homology domains 1
'lipoxygenase homology domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'lipoxygenase homology domains 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_221346
NRAS proto-oncogene, GTPase
'NRAS proto-oncogene, GTPase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
'NRAS proto-oncogene, GTPase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
http://www.orpha.net/ORDO/Orphanet_138851
caspase 8
'caspase 8' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Adult hepatocellular carcinoma'
'caspase 8' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Adult hepatocellular carcinoma'
http://www.orpha.net/ORDO/Orphanet_304486
diaphanous related formin 3
'diaphanous related formin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'diaphanous related formin 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_498497
Short rib-polydactyly syndrome type 5
'Short rib-polydactyly syndrome type 5' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
'Short rib-polydactyly syndrome type 5' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Short rib-polydactyly syndrome type 5' SubClassOf 'has_inheritance' some 'autosomal recessive'
'Short rib-polydactyly syndrome type 5' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
http://www.orpha.net/ORDO/Orphanet_270208
GIPC PDZ domain containing family member 3
'GIPC PDZ domain containing family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'GIPC PDZ domain containing family member 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_451821
heat shock protein family A (Hsp70) member 9
'heat shock protein family A (Hsp70) member 9' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_496751
http://www.orpha.net/ORDO/Orphanet_476816
double homeobox 4
'double homeobox 4' SubClassOf 'Candidate gene tested in' some 'Facioscapulohumeral dystrophy'
'double homeobox 4' SubClassOf 'Candidate gene tested in' some 'Facioscapulohumeral dystrophy'
http://www.orpha.net/ORDO/Orphanet_159178
stereocilin
'stereocilin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'stereocilin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_391333
tenascin C
'tenascin C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'tenascin C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_159122
small nucleolar RNA, C/D box 116 cluster
'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to translocation'
'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to imprinting mutation'
'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
'small nucleolar RNA, C/D box 116 cluster' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to imprinting mutation'
http://www.orpha.net/ORDO/Orphanet_123191
MEFV, pyrin innate immunity regulator
'MEFV, pyrin innate immunity regulator' SubClassOf 'Major susceptibility factor in' some 'Intermittent hydrarthrosis'
'MEFV, pyrin innate immunity regulator' SubClassOf 'Candidate gene tested in' some 'Intermittent hydrarthrosis'
http://www.orpha.net/ORDO/Orphanet_329457
Distal arthrogryposis type 5D
'Distal arthrogryposis type 5D' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 37.0f)
'Distal arthrogryposis type 5D' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Distal arthrogryposis type 5D' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 33.0f)
http://www.orpha.net/ORDO/Orphanet_123201
MET proto-oncogene, receptor tyrosine kinase
'MET proto-oncogene, receptor tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'MET proto-oncogene, receptor tyrosine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Pediatric hepatocellular carcinoma'
'MET proto-oncogene, receptor tyrosine kinase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'MET proto-oncogene, receptor tyrosine kinase' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Pediatric hepatocellular carcinoma'
http://www.orpha.net/ORDO/Orphanet_317445
protein tyrosine phosphatase, non-receptor type 22
'protein tyrosine phosphatase, non-receptor type 22' SubClassOf 'Major susceptibility factor in' some 'Pediatric systemic lupus erythematosus'
http://www.orpha.net/ORDO/Orphanet_331716
ubiquitin protein ligase E3B
'ubiquitin protein ligase E3B' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency'
http://www.orpha.net/ORDO/Orphanet_244283
Biliary atresia with splenic malformation syndrome
'Biliary atresia with splenic malformation syndrome' SubClassOf 'part_of' some 'Rare biliary tract disease'
'Biliary atresia with splenic malformation syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_498350
http://www.orpha.net/ORDO/Orphanet_304191
GATA binding protein 5
'GATA binding protein 5' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot'
'GATA binding protein 5' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Tetralogy of Fallot'
http://www.orpha.net/ORDO/Orphanet_159059
GRB10 interacting GYF protein 2
'GRB10 interacting GYF protein 2' SubClassOf 'Candidate gene tested in' some 'Hereditary late-onset Parkinson disease'
'GRB10 interacting GYF protein 2' SubClassOf 'Candidate gene tested in' some 'Hereditary late-onset Parkinson disease'
http://www.orpha.net/ORDO/Orphanet_159075
tyrosine kinase 2
'tyrosine kinase 2' SubClassOf 'Major susceptibility factor in' some 'Rheumatoid factor-negative juvenile idiopathic arthritis'
'tyrosine kinase 2' SubClassOf 'Major susceptibility factor in' some 'Oligoarticular juvenile idiopathic arthritis'
http://www.orpha.net/ORDO/Orphanet_160008
A-kinase anchoring protein 9
'A-kinase anchoring protein 9' SubClassOf 'Candidate gene tested in' some 'Brugada syndrome'
'A-kinase anchoring protein 9' SubClassOf 'Candidate gene tested in' some 'Brugada syndrome'
http://www.orpha.net/ORDO/Orphanet_123058
DNA ligase 4
'DNA ligase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'LIG4 syndrome'
'DNA ligase 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'LIG4 syndrome'
http://www.orpha.net/ORDO/Orphanet_123031
LEM domain containing 3
'LEM domain containing 3' SubClassOf 'Role in the phenotype of' some '12q14 microdeletion syndrome'
'LEM domain containing 3' SubClassOf 'Role in the phenotype of' some '12q14 microdeletion syndrome'
http://www.orpha.net/ORDO/Orphanet_52429
Branchiootic syndrome
'Branchiootic syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_123090
lamin A/C
'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
'lamin A/C' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
http://www.orpha.net/ORDO/Orphanet_123085
limb development membrane protein 1
'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb, bilateral'
'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia, bilateral'
'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb, unilateral'
'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia, unilateral'
'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Radial hemimelia'
'limb development membrane protein 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polydactyly of a triphalangeal thumb'
http://www.orpha.net/ORDO/Orphanet_123105
loricrin
'loricrin' SubClassOf 'Candidate gene tested in' some 'Progressive symmetric erythrokeratodermia'
'loricrin' SubClassOf 'Candidate gene tested in' some 'Progressive symmetric erythrokeratodermia'
http://www.orpha.net/ORDO/Orphanet_123102
LIM homeobox transcription factor 1 beta
'LIM homeobox transcription factor 1 beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Nail-patella-like renal disease'
'LIM homeobox transcription factor 1 beta' SubClassOf 'Role in the phenotype of' some '9q33.3q34.11 microdeletion syndrome'
http://www.orpha.net/ORDO/Orphanet_137754
Neurological conditions associated with aminoacylase 1 deficiency
'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Neurological conditions associated with aminoacylase 1 deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 15.0f)
http://www.orpha.net/ORDO/Orphanet_353238
STN1, CST complex subunit
'STN1, CST complex subunit' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
'STN1, CST complex subunit' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
http://www.orpha.net/ORDO/Orphanet_353231
family with sequence similarity 13 member A
'family with sequence similarity 13 member A' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
'family with sequence similarity 13 member A' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
http://www.orpha.net/ORDO/Orphanet_353241
ATPase phospholipid transporting 11A
'ATPase phospholipid transporting 11A' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
'ATPase phospholipid transporting 11A' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
http://www.orpha.net/ORDO/Orphanet_403958
prickle planar cell polarity protein 2
'prickle planar cell polarity protein 2' SubClassOf 'Candidate gene tested in' some 'Progressive myoclonic epilepsy type 5'
'prickle planar cell polarity protein 2' SubClassOf 'Candidate gene tested in' some 'Progressive myoclonic epilepsy type 5'
http://www.orpha.net/ORDO/Orphanet_317554
otogelin
'otogelin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'otogelin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_123144
microtubule associated protein tau
'microtubule associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
'microtubule associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
'microtubule associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Progressive non-fluent aphasia'
'microtubule associated protein tau' SubClassOf 'Major susceptibility factor in' some 'Semantic dementia'
http://www.orpha.net/ORDO/Orphanet_353250
dipeptidyl peptidase 9
'dipeptidyl peptidase 9' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
'dipeptidyl peptidase 9' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
http://www.orpha.net/ORDO/Orphanet_317567
otogelin like
'otogelin like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'otogelin like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_317560
polyribonucleotide nucleotidyltransferase 1
'polyribonucleotide nucleotidyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'polyribonucleotide nucleotidyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_281122
Self-improving collodion baby
'Self-improving collodion baby' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_270442
diablo IAP-binding mitochondrial protein
'diablo IAP-binding mitochondrial protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'diablo IAP-binding mitochondrial protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_99179
Kandori fleck retina
'Kandori fleck retina' SubClassOf 'has_AgeOfOnset' some 'Adult'
'Kandori fleck retina' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Kandori fleck retina' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
http://www.orpha.net/ORDO/Orphanet_99108
Patent foramen ovale
'Patent foramen ovale' SubClassOf 'morphological anomaly'
'Patent foramen ovale' SubClassOf 'part_of' some 'Atrial defect and interatrial communication'
http://www.orpha.net/ORDO/Orphanet_294415
Renal-hepatic-pancreatic dysplasia
'Renal-hepatic-pancreatic dysplasia' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Renal-hepatic-pancreatic dysplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_99141
Lymphedema-posterior choanal atresia syndrome
'Lymphedema-posterior choanal atresia syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 6.0f)
'Lymphedema-posterior choanal atresia syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Lymphedema-posterior choanal atresia syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
http://www.orpha.net/ORDO/Orphanet_269879
surfactant protein A2
'surfactant protein A2' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
'surfactant protein A2' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
http://www.orpha.net/ORDO/Orphanet_459297
minichromosome maintenance complex component 2
'minichromosome maintenance complex component 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'minichromosome maintenance complex component 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_91491
Congenital ectropion uveae
'Congenital ectropion uveae' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_122086
gamma-glutamyltransferase 1
'gamma-glutamyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gamma-glutamyl transpeptidase deficiency'
'gamma-glutamyltransferase 1' SubClassOf 'gene with protein product'
'gamma-glutamyltransferase 1' SubClassOf 'has_chromosomal location' value "22q11.23"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_328743
spectrin repeat containing nuclear envelope family member 4
'spectrin repeat containing nuclear envelope family member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'spectrin repeat containing nuclear envelope family member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_399096
Distal anoctaminopathy
'Distal anoctaminopathy' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 8.0f)
'Distal anoctaminopathy' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
'Distal anoctaminopathy' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 24.0f)
http://www.orpha.net/ORDO/Orphanet_160313
myosin IIIA
'myosin IIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'myosin IIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_160337
solute carrier family 26 member 5
'solute carrier family 26 member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'solute carrier family 26 member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_122135
gap junction protein beta 3
'gap junction protein beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'gap junction protein beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'gap junction protein beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'gap junction protein beta 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_390766
grainyhead like transcription factor 3
'grainyhead like transcription factor 3' SubClassOf 'Major susceptibility factor in' some 'Bifid uvula'
'grainyhead like transcription factor 3' SubClassOf 'Major susceptibility factor in' some 'Bifid uvula'
http://www.orpha.net/ORDO/Orphanet_122129
gap junction protein beta 2
'gap junction protein beta 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'gap junction protein beta 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'gap junction protein beta 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'gap junction protein beta 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_159414
LHFPL tetraspan subfamily member 5
'LHFPL tetraspan subfamily member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'LHFPL tetraspan subfamily member 5' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_399103
Nebulin-related early-onset distal myopathy
'Nebulin-related early-onset distal myopathy' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 4.0f)
'Nebulin-related early-onset distal myopathy' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Nebulin-related early-onset distal myopathy' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 13.0f)
'Nebulin-related early-onset distal myopathy' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
http://www.orpha.net/ORDO/Orphanet_122118
gap junction protein alpha 8
'gap junction protein alpha 8' SubClassOf 'Disease-causing germline mutation(s) in' some 'Isolated congenital sclerocornea'
http://www.orpha.net/ORDO/Orphanet_122110
gap junction protein gamma 2
'gap junction protein gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Milroy disease'
'gap junction protein gamma 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Milroy disease'
http://www.orpha.net/ORDO/Orphanet_122102
gap junction protein alpha 1
'gap junction protein alpha 1' SubClassOf 'Candidate gene tested in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'gap junction protein alpha 1' SubClassOf 'Candidate gene tested in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_401820
Autosomal recessive spastic paraplegia type 67
'Autosomal recessive spastic paraplegia type 67' SubClassOf 'part_of' some 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation'
http://www.orpha.net/ORDO/Orphanet_292175
BicC family RNA binding protein 1
'BicC family RNA binding protein 1' SubClassOf 'Candidate gene tested in' some 'Autosomal dominant polycystic kidney disease'
'BicC family RNA binding protein 1' SubClassOf 'Candidate gene tested in' some 'Autosomal dominant polycystic kidney disease'
http://www.orpha.net/ORDO/Orphanet_122167
GLI family zinc finger 3
'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A, bilateral'
'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polysyndactyly, bilateral'
'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A, unilateral'
'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type B, unilateral'
'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type B, bilateral'
'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polysyndactyly, unilateral'
'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Tibial hemimelia, bilateral'
'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Tibial hemimelia'
'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polysyndactyly'
'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type A'
'GLI family zinc finger 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Postaxial polydactyly type B'
http://www.orpha.net/ORDO/Orphanet_122142
gap junction protein beta 6
'gap junction protein beta 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'gap junction protein beta 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'gap junction protein beta 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'gap junction protein beta 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_54595
Craniopharyngioma
'Craniopharyngioma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.13f)
'Craniopharyngioma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.19f)
http://www.orpha.net/ORDO/Orphanet_280122
sequestosome 1
'sequestosome 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'GNE myopathy'
http://www.orpha.net/ORDO/Orphanet_65283
Timothy syndrome
'Timothy syndrome' SubClassOf 'clinical subtype'
'Timothy syndrome' SubClassOf 'malformation syndrome'
http://www.orpha.net/ORDO/Orphanet_65282
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
'Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome' SubClassOf 'has_inheritance' some 'autosomal dominant'
http://www.orpha.net/ORDO/Orphanet_91387
Familial thoracic aortic aneurysm and aortic dissection
'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'has_AgeOfOnset' some 'Adult'
'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'has_AgeOfOnset' some 'Childhood'
http://www.orpha.net/ORDO/Orphanet_484368
platelet derived growth factor receptor like
'platelet derived growth factor receptor like' SubClassOf 'Candidate gene tested in' some 'Adult hepatocellular carcinoma'
'platelet derived growth factor receptor like' SubClassOf 'Candidate gene tested in' some 'Adult hepatocellular carcinoma'
http://www.orpha.net/ORDO/Orphanet_484336
multiple inositol-polyphosphate phosphatase 1
'multiple inositol-polyphosphate phosphatase 1' SubClassOf 'Candidate gene tested in' some 'Familial papillary or follicular thyroid carcinoma'
'multiple inositol-polyphosphate phosphatase 1' SubClassOf 'Candidate gene tested in' some 'Familial papillary or follicular thyroid carcinoma'
http://www.orpha.net/ORDO/Orphanet_304804
nuclear receptor subfamily 1 group H member 4
'nuclear receptor subfamily 1 group H member 4' SubClassOf 'Candidate gene tested in' some 'Intrahepatic cholestasis of pregnancy'
'nuclear receptor subfamily 1 group H member 4' SubClassOf 'Candidate gene tested in' some 'Intrahepatic cholestasis of pregnancy'
http://www.orpha.net/ORDO/Orphanet_91355
Sheehan syndrome
'Sheehan syndrome' SubClassOf 'has_AgeOfOnset' some 'Adult'
'Sheehan syndrome' SubClassOf ('has_annual_incidence_range' some 'Unknown_epidemiological_range') and ('present_in' some 'Worldwide')
http://www.orpha.net/ORDO/Orphanet_471012
RAS related
'RAS related' SubClassOf 'Candidate gene tested in' some 'Noonan syndrome'
'RAS related' SubClassOf 'Candidate gene tested in' some 'Noonan syndrome'
http://www.orpha.net/ORDO/Orphanet_160288
MARVEL domain containing 2
'MARVEL domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'MARVEL domain containing 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_160240
espin
'espin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'espin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_160244
estrogen related receptor beta
'estrogen related receptor beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'estrogen related receptor beta' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_159272
radixin
'radixin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'radixin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_159213
TRIO and F-actin binding protein
'TRIO and F-actin binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'TRIO and F-actin binding protein' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_471062
SIN3 transcription regulator family member A
'SIN3 transcription regulator family member A' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_500166
http://www.orpha.net/ORDO/Orphanet_400642
prolactin receptor
'prolactin receptor' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Multiple fibroadenoma of the breast'
http://www.orpha.net/ORDO/Orphanet_159308
coiled-coil domain containing 50
'coiled-coil domain containing 50' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'coiled-coil domain containing 50' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_363263
neurotrophic receptor tyrosine kinase 2
'neurotrophic receptor tyrosine kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Undetermined early-onset epileptic encephalopathy'
'neurotrophic receptor tyrosine kinase 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome'
http://www.orpha.net/ORDO/Orphanet_123324
MAGE family member L2
'MAGE family member L2' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
'MAGE family member L2' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to imprinting mutation'
'MAGE family member L2' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
'MAGE family member L2' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1'
'MAGE family member L2' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to imprinting mutation'
'MAGE family member L2' SubClassOf 'Role in the phenotype of' some 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2'
http://www.orpha.net/ORDO/Orphanet_123313
leukotriene C4 synthase
'leukotriene C4 synthase' SubClassOf 'gene with protein product'
'leukotriene C4 synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotonia-failure to thrive-microcephaly syndrome'
'leukotriene C4 synthase' SubClassOf 'has_chromosomal location' value "5q35.3"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_390869
catenin alpha 3
'catenin alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
'catenin alpha 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
http://www.orpha.net/ORDO/Orphanet_122035
GATA binding protein 4
'GATA binding protein 4' SubClassOf 'Major susceptibility factor in' some 'Tetralogy of Fallot'
'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some '46,XY partial gonadal dysgenesis'
'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some '46,XY partial gonadal dysgenesis'
'GATA binding protein 4' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Tetralogy of Fallot'
http://www.orpha.net/ORDO/Orphanet_122039
glucosylceramidase beta
'glucosylceramidase beta' SubClassOf 'Major susceptibility factor in' some 'Hereditary late-onset Parkinson disease'
'glucosylceramidase beta' SubClassOf 'Major susceptibility factor in' some 'Hereditary late-onset Parkinson disease'
http://www.orpha.net/ORDO/Orphanet_137988
adaptor related protein complex 1 sigma 2 subunit
'adaptor related protein complex 1 sigma 2 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome'
http://www.orpha.net/ORDO/Orphanet_459321
cell division cycle 14A
'cell division cycle 14A' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'cell division cycle 14A' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_137926
Primary laryngeal lymphangioma
'Primary laryngeal lymphangioma' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Primary laryngeal lymphangioma' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_423384
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
'Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency' SubClassOf 'part_of' some 'Severe congenital neutropenia'
'Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_439849
http://www.orpha.net/ORDO/Orphanet_137932
Congenital laryngeal palsy
'Congenital laryngeal palsy' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_459308
CD164 molecule
'CD164 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'CD164 molecule' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_123301
leucine rich repeat kinase 2
'leucine rich repeat kinase 2' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Hereditary late-onset Parkinson disease'
'leucine rich repeat kinase 2' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Hereditary late-onset Parkinson disease'
http://www.orpha.net/ORDO/Orphanet_448640
centromere protein F
'centromere protein F' SubClassOf 'Disease-causing germline mutation(s) in' some http://www.orpha.net/ORDO/Orphanet_506307
http://www.orpha.net/ORDO/Orphanet_411370
RAS p21 protein activator 2
'RAS p21 protein activator 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Noonan syndrome'
'RAS p21 protein activator 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Noonan syndrome'
http://www.orpha.net/ORDO/Orphanet_364577
Intellectual disability-brachydactyly-Pierre Robin syndrome
'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'part_of' some 'Syndrome with brachydactyly'
'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'part_of' some 'Dysostosis with brachydactyly with extraskeletal manifestations'
http://www.orpha.net/ORDO/Orphanet_459043
membrane metalloendopeptidase
'membrane metalloendopeptidase' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'DNAJB2-related Charcot-Marie-Tooth disease type 2'
'membrane metalloendopeptidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Spinocerebellar ataxia type 43'
'membrane metalloendopeptidase' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Charcot-Marie-Tooth disease type 2T'
'membrane metalloendopeptidase' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'MME-related autosomal dominant Charcot Marie Tooth disease type 2'
http://www.orpha.net/ORDO/Orphanet_448372
X-linked acrogigantism due to Xq26 microduplication
'X-linked acrogigantism due to Xq26 microduplication' SubClassOf 'part_of' some 'Partial duplication of the short arm of chromosome X'
'X-linked acrogigantism due to Xq26 microduplication' SubClassOf 'part_of' some 'Partial duplication of the long arm of chromosome X'
http://www.orpha.net/ORDO/Orphanet_459033
Ataxia-oculomotor apraxia type 4
'Ataxia-oculomotor apraxia type 4' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 11.0f)
'Ataxia-oculomotor apraxia type 4' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 12.0f)
http://www.orpha.net/ORDO/Orphanet_498602
Sugarman brachydactyly
'Sugarman brachydactyly' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Sugarman brachydactyly' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Sugarman brachydactyly' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Sugarman brachydactyly' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 1.0f)
http://www.orpha.net/ORDO/Orphanet_280406
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'part_of' some 'Primary glomerular disease'
'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'part_of' some 'Congenital and infantile nephrotic syndrome'
http://www.orpha.net/ORDO/Orphanet_461381
glucosidase II alpha subunit
'glucosidase II alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant polycystic kidney disease'
'glucosidase II alpha subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant polycystic kidney disease'
http://www.orpha.net/ORDO/Orphanet_121073
diaphanous related formin 1
'diaphanous related formin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'diaphanous related formin 1' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome'
http://www.orpha.net/ORDO/Orphanet_364285
ELMO domain containing 3
'ELMO domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'ELMO domain containing 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_121059
deoxyguanosine kinase
'deoxyguanosine kinase' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Early-onset familial noncirrhotic portal hypertension'
http://www.orpha.net/ORDO/Orphanet_121056
gasdermin E
'gasdermin E' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'gasdermin E' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_122381
hyperpolarization activated cyclic nucleotide gated potassium channel 4
'hyperpolarization activated cyclic nucleotide gated potassium channel 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
'hyperpolarization activated cyclic nucleotide gated potassium channel 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
http://www.orpha.net/ORDO/Orphanet_123621
myosin heavy chain 7
'myosin heavy chain 7' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction'
'myosin heavy chain 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Left ventricular noncompaction'
http://www.orpha.net/ORDO/Orphanet_449638
RE1 silencing transcription factor
'RE1 silencing transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary gingival fibromatosis'
'RE1 silencing transcription factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hereditary gingival fibromatosis'
http://www.orpha.net/ORDO/Orphanet_438982
protein interacting with PRKCA 1
'protein interacting with PRKCA 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia'
'protein interacting with PRKCA 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Male infertility due to globozoospermia'
http://www.orpha.net/ORDO/Orphanet_123610
myosin heavy chain 14
'myosin heavy chain 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'myosin heavy chain 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Low anorectal malformation'
'myosin heavy chain 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_123653
myosin VIIA
'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'myosin VIIA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_123641
myosin XVA
'myosin XVA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'myosin XVA' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_123648
myosin VI
'myosin VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'myosin VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'myosin VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'myosin VI' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_123628
myosin heavy chain 9
'myosin heavy chain 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'myosin heavy chain 9' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_447183
ATPase plasma membrane Ca2+ transporting 2
'ATPase plasma membrane Ca2+ transporting 2' SubClassOf 'Modifying germline mutation in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'ATPase plasma membrane Ca2+ transporting 2' SubClassOf 'Modifying germline mutation in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_77297
Majeed syndrome
'Majeed syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324942
http://www.orpha.net/ORDO/Orphanet_90291
Systemic sclerosis
'Systemic sclerosis' SubClassOf ('present_in' some 'Taiwan, Province of China') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 6.63f)
'Systemic sclerosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
'Systemic sclerosis' SubClassOf ('present_in' some 'Taiwan, Province of China') and ('has_point_prevalence_range' some '1-9 / 100 000') and ('has_point_prevalence_average_value' value 5.63f)
http://www.orpha.net/ORDO/Orphanet_484197
disrupted in renal carcinoma 2
'disrupted in renal carcinoma 2' SubClassOf 'Candidate gene tested in' some 'Hereditary clear cell renal cell carcinoma'
'disrupted in renal carcinoma 2' SubClassOf 'Candidate gene tested in' some 'Hereditary clear cell renal cell carcinoma'
http://www.orpha.net/ORDO/Orphanet_329967
Intermittent hydrarthrosis
'Intermittent hydrarthrosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_486955
http://www.orpha.net/ORDO/Orphanet_484183
8-oxoguanine DNA glycosylase
'8-oxoguanine DNA glycosylase' SubClassOf 'Candidate gene tested in' some 'Hereditary clear cell renal cell carcinoma'
'8-oxoguanine DNA glycosylase' SubClassOf 'Candidate gene tested in' some 'Hereditary clear cell renal cell carcinoma'
http://www.orpha.net/ORDO/Orphanet_217008
Bockenheimer syndrome
'Bockenheimer syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Bockenheimer syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Bockenheimer syndrome' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Bockenheimer syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 40.0f)
http://www.orpha.net/ORDO/Orphanet_484167
TNF receptor superfamily member 10b
'TNF receptor superfamily member 10b' SubClassOf 'Major susceptibility factor in' some 'Squamous cell carcinoma of head and neck'
'TNF receptor superfamily member 10b' SubClassOf 'Major susceptibility factor in' some http://www.orpha.net/ORDO/Orphanet_502366
'TNF receptor superfamily member 10b' SubClassOf 'Major susceptibility factor in' some http://www.orpha.net/ORDO/Orphanet_500464
'TNF receptor superfamily member 10b' SubClassOf 'Major susceptibility factor in' some http://www.orpha.net/ORDO/Orphanet_494547
'TNF receptor superfamily member 10b' SubClassOf 'Major susceptibility factor in' some http://www.orpha.net/ORDO/Orphanet_500478
'TNF receptor superfamily member 10b' SubClassOf 'Major susceptibility factor in' some http://www.orpha.net/ORDO/Orphanet_494550
'TNF receptor superfamily member 10b' SubClassOf 'Major susceptibility factor in' some http://www.orpha.net/ORDO/Orphanet_500481
'TNF receptor superfamily member 10b' SubClassOf 'Major susceptibility factor in' some http://www.orpha.net/ORDO/Orphanet_502363
http://www.orpha.net/ORDO/Orphanet_498796
centrosomal protein 55
'centrosomal protein 55' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some http://www.orpha.net/ORDO/Orphanet_500135
'centrosomal protein 55' SubClassOf 'has_chromosomal location' value "10q23.33"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_159484
catenin delta 2
'catenin delta 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Benign adult familial myoclonic epilepsy'
http://www.orpha.net/ORDO/Orphanet_353699
SLIT and NTRK like family member 6
'SLIT and NTRK like family member 6' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'SLIT and NTRK like family member 6' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_66630
Congenital pseudoarthrosis of the clavicle
'Congenital pseudoarthrosis of the clavicle' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Congenital pseudoarthrosis of the clavicle' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_42642
PFAPA syndrome
'PFAPA syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324960
http://www.orpha.net/ORDO/Orphanet_400443
DnaJ heat shock protein family (Hsp40) member C13
'DnaJ heat shock protein family (Hsp40) member C13' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Hereditary late-onset Parkinson disease'
'DnaJ heat shock protein family (Hsp40) member C13' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Hereditary late-onset Parkinson disease'
http://www.orpha.net/ORDO/Orphanet_159507
grainyhead like transcription factor 2
'grainyhead like transcription factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'grainyhead like transcription factor 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_401764
Pancytopenia-developmental delay syndrome
'Pancytopenia-developmental delay syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
'Pancytopenia-developmental delay syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 3.0f)
http://www.orpha.net/ORDO/Orphanet_391986
zinc finger and BTB domain containing 16
'zinc finger and BTB domain containing 16' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia'
http://www.orpha.net/ORDO/Orphanet_122270
adhesion G protein-coupled receptor V1
'adhesion G protein-coupled receptor V1' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus'
'adhesion G protein-coupled receptor V1' SubClassOf 'Candidate gene tested in' some 'Generalized epilepsy with febrile seizures-plus'
http://www.orpha.net/ORDO/Orphanet_123595
myosin binding protein C, cardiac
'myosin binding protein C, cardiac' SubClassOf 'Major susceptibility factor in' some 'Left ventricular noncompaction'
'myosin binding protein C, cardiac' SubClassOf 'Candidate gene tested in' some 'Left ventricular noncompaction'
http://www.orpha.net/ORDO/Orphanet_159517
transmembrane protein 43
'transmembrane protein 43' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
'transmembrane protein 43' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
http://www.orpha.net/ORDO/Orphanet_90340
Blau syndrome
'Blau syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324950
http://www.orpha.net/ORDO/Orphanet_404553
Vasculitis due to ADA2 deficiency
'Vasculitis due to ADA2 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280369
'Vasculitis due to ADA2 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
http://www.orpha.net/ORDO/Orphanet_404546
DITRA
'DITRA' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324942
http://www.orpha.net/ORDO/Orphanet_3095
Atypical Rett syndrome
'Atypical Rett syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_37553
Cardiodysrhythmic potassium-sensitive periodic paralysis
'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'part_of' some 'Genetic cardiac rhythm disease'
'Cardiodysrhythmic potassium-sensitive periodic paralysis' SubClassOf 'part_of' some 'Familial long QT syndrome'
http://www.orpha.net/ORDO/Orphanet_3056
X-linked intellectual disability, Brooks type
'X-linked intellectual disability, Brooks type' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_3067
Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome
'Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome' SubClassOf 'malformation syndrome'
'Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
'Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
'Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_3063
X-linked intellectual disability, Snyder type
'X-linked intellectual disability, Snyder type' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_75840
Congenital muscular dystrophy, Ullrich type
'Congenital muscular dystrophy, Ullrich type' SubClassOf ('present_in' some 'United Kingdom') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.13f)
'Congenital muscular dystrophy, Ullrich type' SubClassOf ('present_in' some 'United Kingdom') and ('has_point_prevalence_range' some '1-9 / 1 000 000') and ('has_point_prevalence_average_value' value 0.13f)
http://www.orpha.net/ORDO/Orphanet_117957
POU class 4 homeobox 3
'POU class 4 homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'POU class 4 homeobox 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_85200
Ischio-vertebral syndrome
'Ischio-vertebral syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_97253
Pancreatic neuroendocrine tumor
'Pancreatic neuroendocrine tumor' SubClassOf 'Gastroenteropancreatic endocrine tumor'
'Pancreatic neuroendocrine tumor' SubClassOf 'Rare epithelial tumor of pancreas'
'Pancreatic neuroendocrine tumor' SubClassOf http://www.orpha.net/ORDO/Orphanet_506052
http://www.orpha.net/ORDO/Orphanet_306106
cilia and flagella associated protein 53
'cilia and flagella associated protein 53' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs ambiguus'
'cilia and flagella associated protein 53' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs ambiguus'
http://www.orpha.net/ORDO/Orphanet_97261
GRFoma
'GRFoma' SubClassOf 'part_of' some 'Pancreatic neuroendocrine tumor'
'GRFoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_506060
http://www.orpha.net/ORDO/Orphanet_97278
PPoma
'PPoma' SubClassOf 'part_of' some 'Pancreatic neuroendocrine tumor'
'PPoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_506060
http://www.orpha.net/ORDO/Orphanet_97279
Insulinoma
'Insulinoma' SubClassOf 'part_of' some 'Pancreatic neuroendocrine tumor'
'Insulinoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_506060
http://www.orpha.net/ORDO/Orphanet_97289
Thymic neuroendocrine tumor
'Thymic neuroendocrine tumor' SubClassOf 'part_of' some 'Neuroendocrine tumor'
'Thymic neuroendocrine tumor' SubClassOf 'part_of' some 'Neuroendocrine tumor with other location'
http://www.orpha.net/ORDO/Orphanet_248487
high mobility group AT-hook 2
'high mobility group AT-hook 2' SubClassOf 'Role in the phenotype of' some '12q14 microdeletion syndrome'
'high mobility group AT-hook 2' SubClassOf 'Role in the phenotype of' some '12q14 microdeletion syndrome'
http://www.orpha.net/ORDO/Orphanet_97280
Glucagonoma
'Glucagonoma' SubClassOf 'part_of' some 'Pancreatic neuroendocrine tumor'
'Glucagonoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_506060
http://www.orpha.net/ORDO/Orphanet_97282
VIPoma
'VIPoma' SubClassOf 'part_of' some 'Pancreatic neuroendocrine tumor'
'VIPoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_506060
http://www.orpha.net/ORDO/Orphanet_97283
Somatostatinoma
'Somatostatinoma' SubClassOf 'part_of' some 'Pancreatic neuroendocrine tumor'
'Somatostatinoma' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_506060
'Somatostatinoma' SubClassOf 'has_AgeOfOnset' some 'Elderly'
'Somatostatinoma' SubClassOf 'part_of' some 'Duodenal neuroendocrine tumor'
'Somatostatinoma' SubClassOf 'Jejunal neuroendocrine tumor'
http://www.orpha.net/ORDO/Orphanet_99869
Thymic neuroendocrine carcinoma
'Thymic neuroendocrine carcinoma' SubClassOf 'part_of' some 'Neuroendocrine tumor with other location'
http://www.orpha.net/ORDO/Orphanet_490432
DDRGK domain containing 1
'DDRGK domain containing 1' SubClassOf 'has_chromosomal location' value "20p13"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_99889
Cushing syndrome due to ectopic ACTH secretion
'Cushing syndrome due to ectopic ACTH secretion' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_506060
http://www.orpha.net/ORDO/Orphanet_476123
Intermediate Charcot-Marie-Tooth disease
'Intermediate Charcot-Marie-Tooth disease' SubClassOf 'Hereditary motor and sensory neuropathy'
http://www.orpha.net/ORDO/Orphanet_476116
Demyelinating hereditary motor and sensory neuropathy
'Demyelinating hereditary motor and sensory neuropathy' SubClassOf 'Hereditary motor and sensory neuropathy'
http://www.orpha.net/ORDO/Orphanet_404507
Chondromyxoid fibroma
'Chondromyxoid fibroma' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Chondromyxoid fibroma' SubClassOf 'has_AgeOfOnset' some 'Elderly'
'Chondromyxoid fibroma' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
http://www.orpha.net/ORDO/Orphanet_213731
High-grade neuroendocrine carcinoma of the corpus uteri
'High-grade neuroendocrine carcinoma of the corpus uteri' SubClassOf 'part_of' some 'Neuroendocrine tumor with other location'
http://www.orpha.net/ORDO/Orphanet_139217
whirlin
'whirlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'whirlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_331176
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf 'part_of' some 'Severe congenital neutropenia'
'Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_439849
http://www.orpha.net/ORDO/Orphanet_166815
actin gamma 1
'actin gamma 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'actin gamma 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_213777
High-grade neuroendocrine carcinoma of the cervix uteri
'High-grade neuroendocrine carcinoma of the cervix uteri' SubClassOf 'part_of' some 'Neuroendocrine tumor with other location'
http://www.orpha.net/ORDO/Orphanet_454902
sphingosine-1-phosphate receptor 2
'sphingosine-1-phosphate receptor 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'sphingosine-1-phosphate receptor 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_99706
Progeria-associated arthropathy
'Progeria-associated arthropathy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_486955
http://www.orpha.net/ORDO/Orphanet_490636
annexin A11
'annexin A11' SubClassOf 'has_chromosomal location' value "10q22.3"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_477668
Aymé-Gripp syndrome
'Aymé-Gripp syndrome' SubClassOf 'malformation syndrome'
'Aymé-Gripp syndrome' SubClassOf 'part_of' some 'Syndromic cataract'
'Aymé-Gripp syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'Aymé-Gripp syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness'
'Aymé-Gripp syndrome' SubClassOf 'has_inheritance' some 'Inheritance with unknown mechanism'
'Aymé-Gripp syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Aymé-Gripp syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Aymé-Gripp syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
'Aymé-Gripp syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 13.0f)
'Aymé-Gripp syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
'Aymé-Gripp syndrome' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_166812
claudin 14
'claudin 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'claudin 14' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_166807
pejvakin
'pejvakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'pejvakin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_117849
polycystin 2, transient receptor potential cation channel
'polycystin 2, transient receptor potential cation channel' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant polycystic kidney disease'
'polycystin 2, transient receptor potential cation channel' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant polycystic kidney disease'
http://www.orpha.net/ORDO/Orphanet_166809
crystallin mu
'crystallin mu' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'crystallin mu' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_166803
myosin IA
'myosin IA' SubClassOf 'Candidate gene tested in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'myosin IA' SubClassOf 'Candidate gene tested in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
http://www.orpha.net/ORDO/Orphanet_117846
polycystin 1, transient receptor potential channel interacting
'polycystin 1, transient receptor potential channel interacting' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant polycystic kidney disease'
'polycystin 1, transient receptor potential channel interacting' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant polycystic kidney disease'
http://www.orpha.net/ORDO/Orphanet_440392
Interstitial lung disease due to SP-C deficiency
'Interstitial lung disease due to SP-C deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_166800
otoancorin
'otoancorin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'otoancorin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_117871
plakophilin 2
'plakophilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
'plakophilin 2' SubClassOf 'Candidate gene tested in' some 'Brugada syndrome'
'plakophilin 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial isolated arrhythmogenic ventricular dysplasia, biventricular form'
'plakophilin 2' SubClassOf 'Candidate gene tested in' some 'Brugada syndrome'
http://www.orpha.net/ORDO/Orphanet_369810
leucine zipper like transcription regulator 1
'leucine zipper like transcription regulator 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
'leucine zipper like transcription regulator 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Noonan syndrome'
http://www.orpha.net/ORDO/Orphanet_99749
Kostmann syndrome
'Kostmann syndrome' SubClassOf 'part_of' some 'Severe congenital neutropenia'
'Kostmann syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_439849
http://www.orpha.net/ORDO/Orphanet_85162
Facial onset sensory and motor neuronopathy
'Facial onset sensory and motor neuronopathy' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 38.0f)
'Facial onset sensory and motor neuronopathy' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Facial onset sensory and motor neuronopathy' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 47.0f)
http://www.orpha.net/ORDO/Orphanet_117925
DNA polymerase gamma, catalytic subunit
'DNA polymerase gamma, catalytic subunit' SubClassOf 'Candidate gene tested in' some 'Progressive myoclonic epilepsy type 5'
'DNA polymerase gamma, catalytic subunit' SubClassOf 'Candidate gene tested in' some 'Progressive myoclonic epilepsy type 5'
http://www.orpha.net/ORDO/Orphanet_85191
Singleton-Merten dysplasia
'Singleton-Merten dysplasia' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
http://www.orpha.net/ORDO/Orphanet_85193
Idiopathic juvenile osteoporosis
'Idiopathic juvenile osteoporosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_486955
http://www.orpha.net/ORDO/Orphanet_85195
Familial expansile osteolysis
'Familial expansile osteolysis' SubClassOf 'has_AgeOfOnset' some 'Adult'
'Familial expansile osteolysis' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Familial expansile osteolysis' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
http://www.orpha.net/ORDO/Orphanet_319563
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
'Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
http://www.orpha.net/ORDO/Orphanet_36412
Hypocomplementemic urticarial vasculitis
'Hypocomplementemic urticarial vasculitis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280369
http://www.orpha.net/ORDO/Orphanet_140560
ATP binding cassette subfamily A member 3
'ATP binding cassette subfamily A member 3' SubClassOf 'Candidate gene tested in' some 'Idiopathic pulmonary fibrosis'
'ATP binding cassette subfamily A member 3' SubClassOf 'Candidate gene tested in' some 'Idiopathic pulmonary fibrosis'
http://www.orpha.net/ORDO/Orphanet_320176
structural maintenance of chromosomes flexible hinge domain containing 1
'structural maintenance of chromosomes flexible hinge domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Facioscapulohumeral dystrophy'
'structural maintenance of chromosomes flexible hinge domain containing 1' SubClassOf 'Modifying germline mutation in' some 'Facioscapulohumeral dystrophy'
'structural maintenance of chromosomes flexible hinge domain containing 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Facioscapulohumeral dystrophy'
'structural maintenance of chromosomes flexible hinge domain containing 1' SubClassOf 'Modifying germline mutation in' some 'Facioscapulohumeral dystrophy'
http://www.orpha.net/ORDO/Orphanet_210115
Sterile multifocal osteomyelitis with periostitis and pustulosis
'Sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324942
http://www.orpha.net/ORDO/Orphanet_295081
Fibular hemimelia, unilateral
'Fibular hemimelia, unilateral' SubClassOf 'clinical subtype'
'Fibular hemimelia, unilateral' SubClassOf 'part_of' some 'Fibular hemimelia'
'Fibular hemimelia, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_3287
Takayasu arteritis
'Takayasu arteritis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280369
http://www.orpha.net/ORDO/Orphanet_295085
Congenital absence of upper arm and forearm with hand present, unilateral
'Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf 'part_of' some 'Congenital absence of upper arm and forearm with hand present'
'Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf 'clinical subtype'
'Congenital absence of upper arm and forearm with hand present, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295083
Fibular hemimelia, bilateral
'Fibular hemimelia, bilateral' SubClassOf 'part_of' some 'Fibular hemimelia'
'Fibular hemimelia, bilateral' SubClassOf 'clinical subtype'
'Fibular hemimelia, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295089
Congenital absence of thigh and lower leg with foot present, unilateral
'Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf 'clinical subtype'
'Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf 'part_of' some 'Congenital absence of thigh and lower leg with foot present'
'Congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295087
Congenital absence of upper arm and forearm with hand present, bilateral
'Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf 'clinical subtype'
'Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf 'part_of' some 'Congenital absence of upper arm and forearm with hand present'
'Congenital absence of upper arm and forearm with hand present, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295093
Congenital absence of both forearm and hand, unilateral
'Congenital absence of both forearm and hand, unilateral' SubClassOf 'part_of' some 'Congenital absence of both forearm and hand'
'Congenital absence of both forearm and hand, unilateral' SubClassOf 'clinical subtype'
'Congenital absence of both forearm and hand, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295091
Congenital absence of thigh and lower leg with foot present, bilateral
'Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf 'clinical subtype'
'Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf 'part_of' some 'Congenital absence of thigh and lower leg with foot present'
'Congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295097
Congenital absence of both lower leg and foot, unilateral
'Congenital absence of both lower leg and foot, unilateral' SubClassOf 'part_of' some 'Congenital absence of both lower leg and foot'
'Congenital absence of both lower leg and foot, unilateral' SubClassOf 'clinical subtype'
'Congenital absence of both lower leg and foot, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295095
Congenital absence of both forearm and hand, bilateral
'Congenital absence of both forearm and hand, bilateral' SubClassOf 'part_of' some 'Congenital absence of both forearm and hand'
'Congenital absence of both forearm and hand, bilateral' SubClassOf 'clinical subtype'
'Congenital absence of both forearm and hand, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295099
Congenital absence of both lower leg and foot, bilateral
'Congenital absence of both lower leg and foot, bilateral' SubClassOf 'part_of' some 'Congenital absence of both lower leg and foot'
'Congenital absence of both lower leg and foot, bilateral' SubClassOf 'clinical subtype'
'Congenital absence of both lower leg and foot, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_403061
epithelial membrane protein 2
'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic steroid-sensitive nephrotic syndrome with minimal change'
'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis'
'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation'
'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic steroid-sensitive nephrotic syndrome with minimal change'
'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis'
'epithelial membrane protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation'
http://www.orpha.net/ORDO/Orphanet_96100
Distal trisomy 8q
'Distal trisomy 8q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Distal trisomy 8q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96101
Distal trisomy 9q
'Distal trisomy 9q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Distal trisomy 9q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96103
Distal trisomy 11q
'Distal trisomy 11q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Distal trisomy 11q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_96105
Distal trisomy 13q
'Distal trisomy 13q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Distal trisomy 13q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96106
Distal trisomy 16q
'Distal trisomy 16q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Distal trisomy 16q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_96107
Distal trisomy 20q
'Distal trisomy 20q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Distal trisomy 20q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_96109
Distal trisomy 22q
'Distal trisomy 22q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Distal trisomy 22q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96112
Non-distal trisomy 9q
'Non-distal trisomy 9q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_138233
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
'hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha' SubClassOf 'Major susceptibility factor in' some 'Acute fatty liver of pregnancy'
'hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Acute fatty liver of pregnancy'
http://www.orpha.net/ORDO/Orphanet_3243
Sweet syndrome
'Sweet syndrome' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_486955
http://www.orpha.net/ORDO/Orphanet_295041
Patella aplasia/hypoplasia, bilateral
'Patella aplasia/hypoplasia, bilateral' SubClassOf 'clinical subtype'
'Patella aplasia/hypoplasia, bilateral' SubClassOf 'part_of' some 'Patella aplasia/hypoplasia'
'Patella aplasia/hypoplasia, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_3255
Filippi syndrome
'Filippi syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 32.0f)
'Filippi syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 29.0f)
http://www.orpha.net/ORDO/Orphanet_295053
Amelia of upper limb, unilateral
'Amelia of upper limb, unilateral' SubClassOf 'part_of' some 'Amelia of upper limb'
'Amelia of upper limb, unilateral' SubClassOf 'clinical subtype'
'Amelia of upper limb, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_85453
X-linked reticulate pigmentary disorder
'X-linked reticulate pigmentary disorder' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
'X-linked reticulate pigmentary disorder' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
http://www.orpha.net/ORDO/Orphanet_295057
Amelia of lower limb, unilateral
'Amelia of lower limb, unilateral' SubClassOf 'clinical subtype'
'Amelia of lower limb, unilateral' SubClassOf 'part_of' some 'Amelia of lower limb'
'Amelia of lower limb, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295055
Amelia of upper limb, bilateral
'Amelia of upper limb, bilateral' SubClassOf 'part_of' some 'Amelia of upper limb'
'Amelia of upper limb, bilateral' SubClassOf 'clinical subtype'
'Amelia of upper limb, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295059
Amelia of lower limb, bilateral
'Amelia of lower limb, bilateral' SubClassOf 'part_of' some 'Amelia of lower limb'
'Amelia of lower limb, bilateral' SubClassOf 'clinical subtype'
'Amelia of lower limb, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_3265
Humero-radial synostosis
'Humero-radial synostosis' SubClassOf 'has_AgeOfOnset' some 'All ages'
'Humero-radial synostosis' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Humero-radial synostosis' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_3263
Syngnathia-cleft palate syndrome
'Syngnathia-cleft palate syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Syngnathia-cleft palate syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_295063
Humeral agenesis/hypoplasia, bilateral
'Humeral agenesis/hypoplasia, bilateral' SubClassOf 'clinical subtype'
'Humeral agenesis/hypoplasia, bilateral' SubClassOf 'part_of' some 'Humeral agenesis/hypoplasia'
'Humeral agenesis/hypoplasia, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295061
Humeral agenesis/hypoplasia, unilateral
'Humeral agenesis/hypoplasia, unilateral' SubClassOf 'part_of' some 'Humeral agenesis/hypoplasia'
'Humeral agenesis/hypoplasia, unilateral' SubClassOf 'clinical subtype'
'Humeral agenesis/hypoplasia, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295067
Femoral agenesis/hypoplasia, bilateral
'Femoral agenesis/hypoplasia, bilateral' SubClassOf 'clinical subtype'
'Femoral agenesis/hypoplasia, bilateral' SubClassOf 'part_of' some 'Femoral agenesis/hypoplasia'
'Femoral agenesis/hypoplasia, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295065
Femoral agenesis/hypoplasia, unilateral
'Femoral agenesis/hypoplasia, unilateral' SubClassOf 'clinical subtype'
'Femoral agenesis/hypoplasia, unilateral' SubClassOf 'part_of' some 'Femoral agenesis/hypoplasia'
'Femoral agenesis/hypoplasia, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295069
Radial hemimelia, unilateral
'Radial hemimelia, unilateral' SubClassOf 'part_of' some 'Radial hemimelia'
'Radial hemimelia, unilateral' SubClassOf 'clinical subtype'
'Radial hemimelia, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295071
Radial hemimelia, bilateral
'Radial hemimelia, bilateral' SubClassOf 'part_of' some 'Radial hemimelia'
'Radial hemimelia, bilateral' SubClassOf 'clinical subtype'
'Radial hemimelia, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295075
Ulnar hemimelia, unilateral
'Ulnar hemimelia, unilateral' SubClassOf 'part_of' some 'Ulnar hemimelia'
'Ulnar hemimelia, unilateral' SubClassOf 'clinical subtype'
'Ulnar hemimelia, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295073
Ulnar hemimelia, bilateral
'Ulnar hemimelia, bilateral' SubClassOf 'clinical subtype'
'Ulnar hemimelia, bilateral' SubClassOf 'part_of' some 'Ulnar hemimelia'
'Ulnar hemimelia, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295079
Tibial hemimelia, bilateral
'Tibial hemimelia, bilateral' SubClassOf 'part_of' some 'Tibial hemimelia'
'Tibial hemimelia, bilateral' SubClassOf 'has_inheritance' some 'autosomal recessive'
'Tibial hemimelia, bilateral' SubClassOf 'has_inheritance' some 'autosomal dominant'
'Tibial hemimelia, bilateral' SubClassOf 'clinical subtype'
'Tibial hemimelia, bilateral' SubClassOf 'has_inheritance' some 'not inherited'
'Tibial hemimelia, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_98723
Hypoplastic right heart syndrome
'Hypoplastic right heart syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Hypoplastic right heart syndrome' SubClassOf ('present_in' some 'United States') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 1.68f)
http://www.orpha.net/ORDO/Orphanet_295077
Tibial hemimelia, unilateral
'Tibial hemimelia, unilateral' SubClassOf 'has_inheritance' some 'not inherited'
'Tibial hemimelia, unilateral' SubClassOf 'part_of' some 'Tibial hemimelia'
'Tibial hemimelia, unilateral' SubClassOf 'clinical subtype'
'Tibial hemimelia, unilateral' SubClassOf 'has_inheritance' some 'autosomal recessive'
'Tibial hemimelia, unilateral' SubClassOf 'has_inheritance' some 'autosomal dominant'
'Tibial hemimelia, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295000
Constriction rings syndrome
'Constriction rings syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Constriction rings syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96164
Non-distal monosomy 20q
'Non-distal monosomy 20q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96168
Monosomy 13q34
'Monosomy 13q34' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96160
Non-distal monosomy 12q
'Non-distal monosomy 12q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96179
Maternal uniparental disomy of chromosome 2
'Maternal uniparental disomy of chromosome 2' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Maternal uniparental disomy of chromosome 2' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_259361
dehydrodolichyl diphosphate synthase subunit
'dehydrodolichyl diphosphate synthase subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Undetermined early-onset epileptic encephalopathy'
http://www.orpha.net/ORDO/Orphanet_96180
Maternal uniparental disomy of chromosome 4
'Maternal uniparental disomy of chromosome 4' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Maternal uniparental disomy of chromosome 4' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96183
Maternal uniparental disomy of chromosome 9
'Maternal uniparental disomy of chromosome 9' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Maternal uniparental disomy of chromosome 9' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_3354
Tricho-oculo-dermo-vertebral syndrome
'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Tricho-oculo-dermo-vertebral syndrome' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'malformation syndrome'
'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome'
'Tricho-oculo-dermo-vertebral syndrome' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_2028
Juvenile hyaline fibromatosis
'Juvenile hyaline fibromatosis' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 50.0f)
'Juvenile hyaline fibromatosis' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 70.0f)
http://www.orpha.net/ORDO/Orphanet_259373
immunoglobulin like domain containing receptor 1
'immunoglobulin like domain containing receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'immunoglobulin like domain containing receptor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_295038
Patella aplasia/hypoplasia, unilateral
'Patella aplasia/hypoplasia, unilateral' SubClassOf 'clinical subtype'
'Patella aplasia/hypoplasia, unilateral' SubClassOf 'part_of' some 'Patella aplasia/hypoplasia'
'Patella aplasia/hypoplasia, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_96190
Paternal uniparental disomy of chromosome 5
'Paternal uniparental disomy of chromosome 5' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Paternal uniparental disomy of chromosome 5' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96191
Paternal uniparental disomy of chromosome 6
'Paternal uniparental disomy of chromosome 6' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Paternal uniparental disomy of chromosome 6' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_96194
Paternal uniparental disomy of chromosome 20
'Paternal uniparental disomy of chromosome 20' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Paternal uniparental disomy of chromosome 20' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96195
Paternal uniparental disomy of chromosome 21
'Paternal uniparental disomy of chromosome 21' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Paternal uniparental disomy of chromosome 21' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96123
Monosomy 22
'Monosomy 22' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96126
Distal monosomy 7p
'Distal monosomy 7p' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Distal monosomy 7p' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_96129
Distal monosomy 19p13.3
'Distal monosomy 19p13.3' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Distal monosomy 19p13.3' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_98797
Isochromosomy Yp
'Isochromosomy Yp' SubClassOf 'has_AgeOfOnset' some 'Adult'
'Isochromosomy Yp' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
http://www.orpha.net/ORDO/Orphanet_96136
Non-distal monosomy 7p
'Non-distal monosomy 7p' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Non-distal monosomy 7p' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_98798
Isochromosomy Yq
'Isochromosomy Yq' SubClassOf 'has_AgeOfOnset' some 'Adult'
'Isochromosomy Yq' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
http://www.orpha.net/ORDO/Orphanet_3305
Tetraploidy
'Tetraploidy' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Tetraploidy' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96145
Distal monosomy 4q
'Distal monosomy 4q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Distal monosomy 4q' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_96148
Distal monosomy 10q
'Distal monosomy 10q' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Distal monosomy 10q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Distal monosomy 10q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_96149
Distal monosomy 12q
'Distal monosomy 12q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96152
Distal monosomy 20q
'Distal monosomy 20q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_3309
Tetrasomy 5p
'Tetrasomy 5p' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Tetrasomy 5p' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Tetrasomy 5p' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96150
Distal monosomy 14q
'Distal monosomy 14q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_404443
Tall stature-intellectual disability-facial dysmorphism syndrome
'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Overgrowth syndrome'
http://www.orpha.net/ORDO/Orphanet_466703
TMEM199-CDG
'TMEM199-CDG' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 4.0f)
'TMEM199-CDG' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'TMEM199-CDG' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 7.0f)
'TMEM199-CDG' SubClassOf 'has_AgeOfOnset' some 'Childhood'
http://www.orpha.net/ORDO/Orphanet_140450
Hereditary motor and sensory neuropathy
'Hereditary motor and sensory neuropathy' SubClassOf 'Genetic peripheral neuropathy'
'Hereditary motor and sensory neuropathy' SubClassOf 'group of disorders'
'Hereditary motor and sensory neuropathy' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_3165
Eosinophilic fasciitis
'Eosinophilic fasciitis' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
http://www.orpha.net/ORDO/Orphanet_3161
Congenital pulmonary sequestration
'Congenital pulmonary sequestration' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_476102
Hereditary pediatric Behçet-like disease
'Hereditary pediatric Behçet-like disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324953
http://www.orpha.net/ORDO/Orphanet_476109
Axonal hereditary motor and sensory neuropathy
'Axonal hereditary motor and sensory neuropathy' SubClassOf 'Hereditary motor and sensory neuropathy'
http://www.orpha.net/ORDO/Orphanet_36367
Distal monosomy 1q
'Distal monosomy 1q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_35064
Lethal idiopathic viral infection
'Lethal idiopathic viral infection' SubClassOf 'part_of' some 'Rare viral disease'
'Lethal idiopathic viral infection' SubClassOf 'disease'
'Lethal idiopathic viral infection' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_439175
Pediatric arterial ischemic stroke
'Pediatric arterial ischemic stroke' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
'Pediatric arterial ischemic stroke' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Pediatric arterial ischemic stroke' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Pediatric arterial ischemic stroke' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_36382
Familial cervical artery dissection
'Familial cervical artery dissection' SubClassOf 'has_AgeOfOnset' some 'Adult'
http://www.orpha.net/ORDO/Orphanet_99901
Acyl-CoA dehydrogenase 9 deficiency
'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 16.0f)
'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 23.0f)
http://www.orpha.net/ORDO/Orphanet_99916
Malignant Sertoli-Leydig cell tumor of the ovary
'Malignant Sertoli-Leydig cell tumor of the ovary' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Malignant Sertoli-Leydig cell tumor of the ovary' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
http://www.orpha.net/ORDO/Orphanet_466722
Autosomal recessive spastic paraplegia type 77
'Autosomal recessive spastic paraplegia type 77' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 4.0f)
'Autosomal recessive spastic paraplegia type 77' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 8.0f)
'Autosomal recessive spastic paraplegia type 77' SubClassOf 'has_AgeOfOnset' some 'Childhood'
http://www.orpha.net/ORDO/Orphanet_98606
Syndromic orbital border hypoplasia
'Syndromic orbital border hypoplasia' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
'Syndromic orbital border hypoplasia' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Syndromic orbital border hypoplasia' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96059
Mosaic trisomy 4
'Mosaic trisomy 4' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Mosaic trisomy 4' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_3221
Generalized resistance to thyroid hormone
'Generalized resistance to thyroid hormone' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Generalized resistance to thyroid hormone' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96068
Mosaic trisomy 22
'Mosaic trisomy 22' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Mosaic trisomy 22' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96069
Distal trisomy 1p36
'Distal trisomy 1p36' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Distal trisomy 1p36' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96060
Mosaic trisomy 5
'Mosaic trisomy 5' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Mosaic trisomy 5' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96063
Mosaic trisomy 10
'Mosaic trisomy 10' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Mosaic trisomy 10' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96070
Distal trisomy 2p
'Distal trisomy 2p' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96071
Distal trisomy 3p
'Distal trisomy 3p' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Distal trisomy 3p' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_96072
4p16.3 microduplication syndrome
'4p16.3 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'4p16.3 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96074
Distal trisomy 7p
'Distal trisomy 7p' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Distal trisomy 7p' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_98682
Essential strabismus
'Essential strabismus' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_84064
Syndromic diarrhea
'Syndromic diarrhea' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
http://www.orpha.net/ORDO/Orphanet_96097
Distal trisomy 5q
'Distal trisomy 5q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96098
Distal trisomy 6q
'Distal trisomy 6q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Distal trisomy 6q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_96094
Distal trisomy 2q
'Distal trisomy 2q' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Distal trisomy 2q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_96095
3q26 microduplication syndrome
'3q26 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'3q26 microduplication syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'3q26 microduplication syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'3q26 microduplication syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 100.0f)
http://www.orpha.net/ORDO/Orphanet_96096
Distal trisomy 4q
'Distal trisomy 4q' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Distal trisomy 4q' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_488601
3-ketodihydrosphingosine reductase
'3-ketodihydrosphingosine reductase' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Progressive symmetric erythrokeratodermia'
'3-ketodihydrosphingosine reductase' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Progressive symmetric erythrokeratodermia'
http://www.orpha.net/ORDO/Orphanet_465978
engulfment and cell motility 2
'engulfment and cell motility 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ramon syndrome'
http://www.orpha.net/ORDO/Orphanet_402371
epidermal growth factor receptor pathway substrate 8
'epidermal growth factor receptor pathway substrate 8' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'epidermal growth factor receptor pathway substrate 8' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_402368
glutaredoxin and cysteine rich domain containing 2
'glutaredoxin and cysteine rich domain containing 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'glutaredoxin and cysteine rich domain containing 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_233019
serpin family B member 6
'serpin family B member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'serpin family B member 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_138451
telomerase reverse transcriptase
'telomerase reverse transcriptase' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
'telomerase reverse transcriptase' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
http://www.orpha.net/ORDO/Orphanet_138457
telomerase RNA component
'telomerase RNA component' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
'telomerase RNA component' SubClassOf 'Major susceptibility factor in' some 'Idiopathic pulmonary fibrosis'
http://www.orpha.net/ORDO/Orphanet_209301
transient receptor potential cation channel subfamily M member 4
'transient receptor potential cation channel subfamily M member 4' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome'
'transient receptor potential cation channel subfamily M member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
'transient receptor potential cation channel subfamily M member 4' SubClassOf 'Major susceptibility factor in' some 'Brugada syndrome'
'transient receptor potential cation channel subfamily M member 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brugada syndrome'
http://www.orpha.net/ORDO/Orphanet_475300
polycystin 1 like 1, transient receptor potential channel interacting
'polycystin 1 like 1, transient receptor potential channel interacting' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs ambiguus'
'polycystin 1 like 1, transient receptor potential channel interacting' SubClassOf 'Disease-causing germline mutation(s) in' some 'Situs ambiguus'
http://www.orpha.net/ORDO/Orphanet_64747
X-linked Charcot-Marie-Tooth disease
'X-linked Charcot-Marie-Tooth disease' SubClassOf 'Hereditary motor and sensory neuropathy'
http://www.orpha.net/ORDO/Orphanet_101206
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
'Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_295211
Humero-radial synostosis, bilateral
'Humero-radial synostosis, bilateral' SubClassOf 'clinical subtype'
'Humero-radial synostosis, bilateral' SubClassOf 'part_of' some 'Humero-radial synostosis'
'Humero-radial synostosis, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295207
Humero-radio-ulnar synostosis, bilateral
'Humero-radio-ulnar synostosis, bilateral' SubClassOf 'part_of' some 'Humero-radio-ulnar synostosis'
'Humero-radio-ulnar synostosis, bilateral' SubClassOf 'clinical subtype'
'Humero-radio-ulnar synostosis, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295205
Humero-radio-ulnar synostosis, unilateral
'Humero-radio-ulnar synostosis, unilateral' SubClassOf 'clinical subtype'
'Humero-radio-ulnar synostosis, unilateral' SubClassOf 'part_of' some 'Humero-radio-ulnar synostosis'
'Humero-radio-ulnar synostosis, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295209
Humero-radial synostosis, unilateral
'Humero-radial synostosis, unilateral' SubClassOf 'clinical subtype'
'Humero-radial synostosis, unilateral' SubClassOf 'part_of' some 'Humero-radial synostosis'
'Humero-radial synostosis, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295237
Congenital patella dislocation, bilateral
'Congenital patella dislocation, bilateral' SubClassOf 'clinical subtype'
'Congenital patella dislocation, bilateral' SubClassOf 'part_of' some 'Congenital patella dislocation'
'Congenital patella dislocation, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295234
Congenital patella dislocation, unilateral
'Congenital patella dislocation, unilateral' SubClassOf 'part_of' some 'Congenital patella dislocation'
'Congenital patella dislocation, unilateral' SubClassOf 'clinical subtype'
'Congenital patella dislocation, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_260583
mitogen-activated protein kinase kinase kinase 1
'mitogen-activated protein kinase kinase kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
'mitogen-activated protein kinase kinase kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some '46,XY partial gonadal dysgenesis'
http://www.orpha.net/ORDO/Orphanet_329255
Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 4.0f)
'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'part_of' some 'Blepharophimosis-intellectual disability syndrome'
'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'has_inheritance' some 'Inheritance with unknown mechanism'
'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'disease'
'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_138366
fms related tyrosine kinase 3
'fms related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloid leukemia with minimal differentiation'
'fms related tyrosine kinase 3' SubClassOf 'Disease-causing somatic mutation(s) in' some 'Acute myeloid leukemia with minimal differentiation'
http://www.orpha.net/ORDO/Orphanet_425120
STING-associated vasculopathy with onset in infancy
'STING-associated vasculopathy with onset in infancy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280369
'STING-associated vasculopathy with onset in infancy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481671
'STING-associated vasculopathy with onset in infancy' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324953
http://www.orpha.net/ORDO/Orphanet_101039
Female restricted epilepsy with intellectual disability
'Female restricted epilepsy with intellectual disability' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
http://www.orpha.net/ORDO/Orphanet_101016
Romano-Ward syndrome
'Romano-Ward syndrome' SubClassOf 'clinical subtype'
'Romano-Ward syndrome' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_295163
Postaxial polydactyly type A, unilateral
'Postaxial polydactyly type A, unilateral' SubClassOf 'clinical subtype'
'Postaxial polydactyly type A, unilateral' SubClassOf 'part_of' some 'Postaxial polydactyly type A'
'Postaxial polydactyly type A, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295161
Polysyndactyly, bilateral
'Polysyndactyly, bilateral' SubClassOf 'clinical subtype'
'Polysyndactyly, bilateral' SubClassOf 'part_of' some 'Polysyndactyly'
'Polysyndactyly, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295167
Postaxial polydactyly type B, unilateral
'Postaxial polydactyly type B, unilateral' SubClassOf 'part_of' some 'Postaxial polydactyly type B'
'Postaxial polydactyly type B, unilateral' SubClassOf 'clinical subtype'
'Postaxial polydactyly type B, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295165
Postaxial polydactyly type A, bilateral
'Postaxial polydactyly type A, bilateral' SubClassOf 'part_of' some 'Postaxial polydactyly type A'
'Postaxial polydactyly type A, bilateral' SubClassOf 'clinical subtype'
'Postaxial polydactyly type A, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295169
Postaxial polydactyly type B, bilateral
'Postaxial polydactyly type B, bilateral' SubClassOf 'part_of' some 'Postaxial polydactyly type B'
'Postaxial polydactyly type B, bilateral' SubClassOf 'clinical subtype'
'Postaxial polydactyly type B, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_89937
Autosomal dominant hypophosphatemic rickets
'Autosomal dominant hypophosphatemic rickets' SubClassOf 'has_AgeOfOnset' some 'All ages'
'Autosomal dominant hypophosphatemic rickets' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Autosomal dominant hypophosphatemic rickets' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Autosomal dominant hypophosphatemic rickets' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
'Autosomal dominant hypophosphatemic rickets' SubClassOf 'has_AgeOfOnset' some 'Adult'
http://www.orpha.net/ORDO/Orphanet_89936
X-linked hypophosphatemia
'X-linked hypophosphatemia' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_295173
Central polydactyly of fingers, bilateral
'Central polydactyly of fingers, bilateral' SubClassOf 'part_of' some 'Central polydactyly of fingers'
'Central polydactyly of fingers, bilateral' SubClassOf 'clinical subtype'
'Central polydactyly of fingers, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295171
Central polydactyly of fingers, unilateral
'Central polydactyly of fingers, unilateral' SubClassOf 'clinical subtype'
'Central polydactyly of fingers, unilateral' SubClassOf 'part_of' some 'Central polydactyly of fingers'
'Central polydactyly of fingers, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_101083
Charcot-Marie-Tooth disease type 1C
'Charcot-Marie-Tooth disease type 1C' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
'Charcot-Marie-Tooth disease type 1C' SubClassOf 'has_AgeOfOnset' some 'Adult'
http://www.orpha.net/ORDO/Orphanet_99324
Paternal uniparental disomy of chromosome 13
'Paternal uniparental disomy of chromosome 13' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Paternal uniparental disomy of chromosome 13' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_88639
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 16.0f)
'Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 20.0f)
http://www.orpha.net/ORDO/Orphanet_295144
Polydactyly of a biphalangeal thumb, unilateral
'Polydactyly of a biphalangeal thumb, unilateral' SubClassOf 'clinical subtype'
'Polydactyly of a biphalangeal thumb, unilateral' SubClassOf 'part_of' some 'Polydactyly of a biphalangeal thumb'
'Polydactyly of a biphalangeal thumb, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295148
Polydactyly of a triphalangeal thumb, unilateral
'Polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'part_of' some 'Polydactyly of a triphalangeal thumb'
'Polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'clinical subtype'
'Polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295146
Polydactyly of a biphalangeal thumb, bilateral
'Polydactyly of a biphalangeal thumb, bilateral' SubClassOf 'clinical subtype'
'Polydactyly of a biphalangeal thumb, bilateral' SubClassOf 'part_of' some 'Polydactyly of a biphalangeal thumb'
'Polydactyly of a biphalangeal thumb, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295152
Polydactyly of an index finger, unilateral
'Polydactyly of an index finger, unilateral' SubClassOf 'clinical subtype'
'Polydactyly of an index finger, unilateral' SubClassOf 'part_of' some 'Polydactyly of an index finger'
'Polydactyly of an index finger, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295150
Polydactyly of a triphalangeal thumb, bilateral
'Polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'clinical subtype'
'Polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'part_of' some 'Polydactyly of a triphalangeal thumb'
'Polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295154
Polydactyly of an index finger, bilateral
'Polydactyly of an index finger, bilateral' SubClassOf 'part_of' some 'Polydactyly of an index finger'
'Polydactyly of an index finger, bilateral' SubClassOf 'clinical subtype'
'Polydactyly of an index finger, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295159
Polysyndactyly, unilateral
'Polysyndactyly, unilateral' SubClassOf 'part_of' some 'Polysyndactyly'
'Polysyndactyly, unilateral' SubClassOf 'clinical subtype'
'Polysyndactyly, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_88673
Hepatocellular carcinoma
'Hepatocellular carcinoma' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 10.0f)
'Hepatocellular carcinoma' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 15.0f)
http://www.orpha.net/ORDO/Orphanet_295101
Acheiria, unilateral
'Acheiria, unilateral' SubClassOf 'clinical subtype'
'Acheiria, unilateral' SubClassOf 'part_of' some 'Acheiria'
'Acheiria, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295105
Apodia, unilateral
'Apodia, unilateral' SubClassOf 'clinical subtype'
'Apodia, unilateral' SubClassOf 'part_of' some 'Apodia'
'Apodia, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295103
Acheiria, bilateral
'Acheiria, bilateral' SubClassOf 'part_of' some 'Acheiria'
'Acheiria, bilateral' SubClassOf 'clinical subtype'
'Acheiria, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295112
Congenital absence/hypoplasia of thumb, bilateral
'Congenital absence/hypoplasia of thumb, bilateral' SubClassOf 'part_of' some 'Congenital absence/hypoplasia of thumb'
'Congenital absence/hypoplasia of thumb, bilateral' SubClassOf 'clinical subtype'
'Congenital absence/hypoplasia of thumb, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295110
Congenital absence/hypoplasia of thumb, unilateral
'Congenital absence/hypoplasia of thumb, unilateral' SubClassOf 'part_of' some 'Congenital absence/hypoplasia of thumb'
'Congenital absence/hypoplasia of thumb, unilateral' SubClassOf 'clinical subtype'
'Congenital absence/hypoplasia of thumb, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295107
Apodia, bilateral
'Apodia, bilateral' SubClassOf 'part_of' some 'Apodia'
'Apodia, bilateral' SubClassOf 'clinical subtype'
'Apodia, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_306658
Familial normophosphatemic tumoral calcinosis
'Familial normophosphatemic tumoral calcinosis' SubClassOf 'has_AgeOfOnset' some 'Infancy'
http://www.orpha.net/ORDO/Orphanet_75391
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
'Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'part_of' some 'Syndrome with combined immunodeficiency'
'Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'part_of' some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies'
http://www.orpha.net/ORDO/Orphanet_124094
paired box 6
'paired box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Morning glory syndrome'
'paired box 6' SubClassOf 'Disease-causing germline mutation(s) in' some 'Morning glory syndrome'
http://www.orpha.net/ORDO/Orphanet_247820
Ectodermal dysplasia-syndactyly syndrome
'Ectodermal dysplasia-syndactyly syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 6.0f)
'Ectodermal dysplasia-syndactyly syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 22.0f)
http://www.orpha.net/ORDO/Orphanet_258532
methionine sulfoxide reductase B3
'methionine sulfoxide reductase B3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'methionine sulfoxide reductase B3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_440402
Interstitial lung disease due to ABCA3 deficiency
'Interstitial lung disease due to ABCA3 deficiency' SubClassOf 'has_AgeOfOnset' some 'Childhood'
'Interstitial lung disease due to ABCA3 deficiency' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Interstitial lung disease due to ABCA3 deficiency' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_124035
otoferlin
'otoferlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'otoferlin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_138681
SEM1, 26S proteasome complex subunit
'SEM1, 26S proteasome complex subunit' SubClassOf 'Candidate gene tested in' some 'Split hand-split foot malformation'
'SEM1, 26S proteasome complex subunit' SubClassOf 'Candidate gene tested in' some 'Split hand-split foot malformation'
http://www.orpha.net/ORDO/Orphanet_100079
Neuroendocrine tumor of the appendix
'Neuroendocrine tumor of the appendix' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor'
'Neuroendocrine tumor of the appendix' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481508
http://www.orpha.net/ORDO/Orphanet_100076
Duodenal neuroendocrine tumor
'Duodenal neuroendocrine tumor' SubClassOf 'Gastroenteropancreatic endocrine tumor'
http://www.orpha.net/ORDO/Orphanet_100075
Gastric neuroendocrine tumor
'Gastric neuroendocrine tumor' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor'
'Gastric neuroendocrine tumor' SubClassOf 'has_AgeOfOnset' some 'Elderly'
'Gastric neuroendocrine tumor' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481508
'Gastric neuroendocrine tumor' SubClassOf 'has_AgeOfOnset' some 'Adult'
http://www.orpha.net/ORDO/Orphanet_100078
Ileal neuroendocrine tumor
'Ileal neuroendocrine tumor' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor'
'Ileal neuroendocrine tumor' SubClassOf 'has_AgeOfOnset' some 'Adult'
http://www.orpha.net/ORDO/Orphanet_100077
Jejunal neuroendocrine tumor
'Jejunal neuroendocrine tumor' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor'
'Jejunal neuroendocrine tumor' SubClassOf 'has_AgeOfOnset' some 'Adult'
http://www.orpha.net/ORDO/Orphanet_247815
Autosomal recessive ataxia due to PEX10 deficiency
'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf 'has_AgeOfOnset' some 'Adolescent'
'Autosomal recessive ataxia due to PEX10 deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 6.0f)
http://www.orpha.net/ORDO/Orphanet_100082
Neuroendocrine tumor of the anal canal
'Neuroendocrine tumor of the anal canal' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor'
'Neuroendocrine tumor of the anal canal' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481508
http://www.orpha.net/ORDO/Orphanet_100081
Neuroendocrine tumor of the rectum
'Neuroendocrine tumor of the rectum' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor'
'Neuroendocrine tumor of the rectum' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481508
'Neuroendocrine tumor of the rectum' SubClassOf 'has_AgeOfOnset' some 'Adult'
http://www.orpha.net/ORDO/Orphanet_100080
Neuroendocrine tumor of the colon
'Neuroendocrine tumor of the colon' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor'
'Neuroendocrine tumor of the colon' SubClassOf 'has_AgeOfOnset' some 'Adult'
'Neuroendocrine tumor of the colon' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_481508
'Neuroendocrine tumor of the colon' SubClassOf 'has_AgeOfOnset' some 'Elderly'
http://www.orpha.net/ORDO/Orphanet_476403
Hypercontractile muscle stiffness syndrome
'Hypercontractile muscle stiffness syndrome' SubClassOf 'Alpha-crystallinopathy'
'Hypercontractile muscle stiffness syndrome' SubClassOf 'Myofibrillar myopathy'
http://www.orpha.net/ORDO/Orphanet_476406
Congenital generalized hypercontractile muscle stiffness syndrome
'Congenital generalized hypercontractile muscle stiffness syndrome' SubClassOf 'part_of' some 'Qualitative or quantitative defects of tropomyosin'
http://www.orpha.net/ORDO/Orphanet_100093
Carcinoid syndrome
'Carcinoid syndrome' SubClassOf 'part_of' some 'Gastroenteropancreatic endocrine tumor'
'Carcinoid syndrome' SubClassOf 'part_of' some 'Neuroendocrine tumor'
http://www.orpha.net/ORDO/Orphanet_438159
STAT3-related early-onset multisystem autoimmune disease
'STAT3-related early-onset multisystem autoimmune disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_280373
http://www.orpha.net/ORDO/Orphanet_138722
Raf-1 proto-oncogene, serine/threonine kinase
'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Noonan syndrome'
'Raf-1 proto-oncogene, serine/threonine kinase' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Noonan syndrome'
http://www.orpha.net/ORDO/Orphanet_124119
protocadherin related 15
'protocadherin related 15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'protocadherin related 15' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_124103
paired box 8
'paired box 8' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Athyreosis'
'paired box 8' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Athyreosis'
http://www.orpha.net/ORDO/Orphanet_404762
adenylate cyclase 1
'adenylate cyclase 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
'adenylate cyclase 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive non-syndromic sensorineural deafness type DFNB'
http://www.orpha.net/ORDO/Orphanet_438216
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation' SubClassOf 'clinical subtype'
'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation' SubClassOf 'etiological subtype'
http://www.orpha.net/ORDO/Orphanet_465808
arginine-glutamic acid dipeptide repeats
'arginine-glutamic acid dipeptide repeats' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'RERE-related neurodevelopmental syndrome'
http://www.orpha.net/ORDO/Orphanet_139855
fibulin 1
'fibulin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome'
'fibulin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome'
http://www.orpha.net/ORDO/Orphanet_100021
Primary plasmacytoma of the bone
'Primary plasmacytoma of the bone' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.15f)
http://www.orpha.net/ORDO/Orphanet_100022
Extramedullary soft tissue plasmacytoma
'Extramedullary soft tissue plasmacytoma' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 0.1f)
http://www.orpha.net/ORDO/Orphanet_100014
Lissencephaly with cerebellar hypoplasia type D
'Lissencephaly with cerebellar hypoplasia type D' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Lissencephaly with cerebellar hypoplasia type D' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_100016
Lissencephaly with cerebellar hypoplasia type F
'Lissencephaly with cerebellar hypoplasia type F' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Lissencephaly with cerebellar hypoplasia type F' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
http://www.orpha.net/ORDO/Orphanet_100015
Lissencephaly with cerebellar hypoplasia type E
'Lissencephaly with cerebellar hypoplasia type E' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Lissencephaly with cerebellar hypoplasia type E' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_294023
Neonatal inflammatory skin and bowel disease
'Neonatal inflammatory skin and bowel disease' SubClassOf 'part_of' some http://www.orpha.net/ORDO/Orphanet_324942
http://www.orpha.net/ORDO/Orphanet_100012
Lissencephaly with cerebellar hypoplasia type B
'Lissencephaly with cerebellar hypoplasia type B' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
http://www.orpha.net/ORDO/Orphanet_100011
Lissencephaly with cerebellar hypoplasia type A
'Lissencephaly with cerebellar hypoplasia type A' SubClassOf 'has_AgeOfOnset' some 'Antenatal'
'Lissencephaly with cerebellar hypoplasia type A' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_140908
Brachydactyly type B2
'Brachydactyly type B2' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_103912
Epithelio-exfoliative colitis-deafness syndrome
'Epithelio-exfoliative colitis-deafness syndrome' SubClassOf 'has_AgeOfOnset' some 'Infancy'
'Epithelio-exfoliative colitis-deafness syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Epithelio-exfoliative colitis-deafness syndrome' SubClassOf 'part_of' some 'Congenital enteropathy involving intestinal mucosa development'
'Epithelio-exfoliative colitis-deafness syndrome' SubClassOf 'disease'
'Epithelio-exfoliative colitis-deafness syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
'Epithelio-exfoliative colitis-deafness syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
'Epithelio-exfoliative colitis-deafness syndrome' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_481508
Gastroenteric neuroendocrine neoplasm
'Gastroenteric neuroendocrine neoplasm' SubClassOf 'group of disorders'
'Gastroenteric neuroendocrine neoplasm' SubClassOf 'Gastroenteropancreatic neuroendocrine neoplasm'
http://www.orpha.net/ORDO/Orphanet_470800
netrin 1
'netrin 1' SubClassOf 'has_chromosomal location' value "17p13.1"^^http://www.w3.org/2001/XMLSchema#string
'netrin 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial congenital mirror movements'
'netrin 1' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_2641
OBSOLETE: Micromelic dwarfism, Fryns type
'OBSOLETE: Micromelic dwarfism, Fryns type' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_504704
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2
'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2' SubClassOf 'gene with protein product'
'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2' SubClassOf 'has_chromosomal location' value "17q23.3"^^http://www.w3.org/2001/XMLSchema#string
'SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Recurrent infection due to specific granule deficiency'
http://www.orpha.net/ORDO/Orphanet_1266
Dermato-cardio-skeletal syndrome, Borrone type
'Dermato-cardio-skeletal syndrome, Borrone type' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_469968
ATPase family, AAA domain containing 3A
'ATPase family, AAA domain containing 3A' SubClassOf 'gene with protein product'
'ATPase family, AAA domain containing 3A' SubClassOf 'has_chromosomal location' value "1p36.33"^^http://www.w3.org/2001/XMLSchema#string
'ATPase family, AAA domain containing 3A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Optic atrophy-peripheral neuropathy-developmental delay syndrome'
http://www.orpha.net/ORDO/Orphanet_494919
SET nuclear proto-oncogene
'SET nuclear proto-oncogene' SubClassOf 'gene with protein product'
'SET nuclear proto-oncogene' SubClassOf 'Part of a fusion gene in' some 'Precursor T-cell acute lymphoblastic leukemia'
'SET nuclear proto-oncogene' SubClassOf 'has_chromosomal location' value "9q34.11"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_470948
Rac family small GTPase 1
'Rac family small GTPase 1' SubClassOf 'gene with protein product'
'Rac family small GTPase 1' SubClassOf 'has_chromosomal location' value "7p22.1"^^http://www.w3.org/2001/XMLSchema#string
'Rac family small GTPase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom'
http://www.orpha.net/ORDO/Orphanet_324960
Unexplained periodic fever syndrome of childhood
'Unexplained periodic fever syndrome of childhood' SubClassOf 'group of disorders'
'Unexplained periodic fever syndrome of childhood' SubClassOf 'Periodic fever syndrome of childhood'
http://www.orpha.net/ORDO/Orphanet_324950
Granulomatous autoinflammatory syndrome of childhood
'Granulomatous autoinflammatory syndrome of childhood' SubClassOf 'group of disorders'
'Granulomatous autoinflammatory syndrome of childhood' SubClassOf 'Autoinflammatory syndrome of childhood'
http://www.orpha.net/ORDO/Orphanet_324953
Unclassified autoinflammatory syndrome of childhood
'Unclassified autoinflammatory syndrome of childhood' SubClassOf 'Autoinflammatory syndrome of childhood'
'Unclassified autoinflammatory syndrome of childhood' SubClassOf 'group of disorders'
http://www.orpha.net/ORDO/Orphanet_324939
Periodic fever syndrome of childhood
'Periodic fever syndrome of childhood' SubClassOf 'group of disorders'
'Periodic fever syndrome of childhood' SubClassOf 'Autoinflammatory syndrome of childhood'
http://www.orpha.net/ORDO/Orphanet_324942
Pyogenic autoinflammatory syndrome of childhood
'Pyogenic autoinflammatory syndrome of childhood' SubClassOf 'Autoinflammatory syndrome of childhood'
'Pyogenic autoinflammatory syndrome of childhood' SubClassOf 'group of disorders'
http://www.orpha.net/ORDO/Orphanet_481671
Type 1 interferonopathy of childhood
'Type 1 interferonopathy of childhood' SubClassOf 'group of disorders'
'Type 1 interferonopathy of childhood' SubClassOf 'Autoinflammatory syndrome of childhood'
http://www.orpha.net/ORDO/Orphanet_470694
moesin
'moesin' SubClassOf 'gene with protein product'
'moesin' SubClassOf 'has_chromosomal location' value "Xq12"^^http://www.w3.org/2001/XMLSchema#string
'moesin' SubClassOf 'Disease-causing germline mutation(s) in' some 'Combined immunodeficiency due to Moesin deficiency'
http://www.orpha.net/ORDO/Orphanet_1570
Symbrachydactyly of hands and feet
'Symbrachydactyly of hands and feet' SubClassOf 'malformation syndrome'
'Symbrachydactyly of hands and feet' SubClassOf 'has_AgeOfOnset' some 'neonatal'
'Symbrachydactyly of hands and feet' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Symbrachydactyly of hands and feet' SubClassOf 'part_of' some 'Dysostosis with brachydactyly without extraskeletal manifestations'
'Symbrachydactyly of hands and feet' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 2.0f)
http://www.orpha.net/ORDO/Orphanet_504530
Combined immunodeficiency due to Moesin deficiency
'Combined immunodeficiency due to Moesin deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 7.0f)
'Combined immunodeficiency due to Moesin deficiency' SubClassOf 'has_inheritance' some 'x-linked recessive'
'Combined immunodeficiency due to Moesin deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Combined immunodeficiency due to Moesin deficiency' SubClassOf 'part_of' some 'Non-severe combined immunodeficiency'
'Combined immunodeficiency due to Moesin deficiency' SubClassOf 'disease'
'Combined immunodeficiency due to Moesin deficiency' SubClassOf 'has_AgeOfOnset' some 'childhood'
http://www.orpha.net/ORDO/Orphanet_504523
Severe combined immunodeficiency due to LAT deficiency
'Severe combined immunodeficiency due to LAT deficiency' SubClassOf 'has_AgeOfOnset' some 'infancy'
'Severe combined immunodeficiency due to LAT deficiency' SubClassOf 'part_of' some 'T-B+ severe combined immunodeficiency'
'Severe combined immunodeficiency due to LAT deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Severe combined immunodeficiency due to LAT deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 3.0f)
'Severe combined immunodeficiency due to LAT deficiency' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_1420
OBSOLETE: Lethal chondrodysplasia, Moerman type
'OBSOLETE: Lethal chondrodysplasia, Moerman type' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_1421
OBSOLETE: Lethal chondrodysplasia, Seller type
'OBSOLETE: Lethal chondrodysplasia, Seller type' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_481481
OBSOLETE: Gastric neuroendocrine tumor type 4
'OBSOLETE: Gastric neuroendocrine tumor type 4' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_481469
OBSOLETE: Gastric neuroendocrine tumor type 1
'OBSOLETE: Gastric neuroendocrine tumor type 1' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_481475
OBSOLETE: Gastric neuroendocrine tumor type 2
'OBSOLETE: Gastric neuroendocrine tumor type 2' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_481478
OBSOLETE: Gastric neuroendocrine tumor type 3
'OBSOLETE: Gastric neuroendocrine tumor type 3' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_502623
signal recognition particle 54
'signal recognition particle 54' SubClassOf 'gene with protein product'
'signal recognition particle 54' SubClassOf 'Disease-causing germline mutation(s) in' some 'Shwachman-Diamond syndrome'
'signal recognition particle 54' SubClassOf 'has_chromosomal location' value "14q13.2"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_512017
Chronic lymphoproliferative disorder of natural killer cells
'Chronic lymphoproliferative disorder of natural killer cells' SubClassOf 'part_of' some 'Large granular lymphocyte leukemia'
'Chronic lymphoproliferative disorder of natural killer cells' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_500055
16p13.2 microdeletion syndrome
'16p13.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'childhood'
'16p13.2 microdeletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the short arm of chromosome 16'
'16p13.2 microdeletion syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 6.0f)
'16p13.2 microdeletion syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
'16p13.2 microdeletion syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
'16p13.2 microdeletion syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
'16p13.2 microdeletion syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'16p13.2 microdeletion syndrome' SubClassOf 'malformation syndrome'
http://www.orpha.net/ORDO/Orphanet_512034
Large granular lymphocyte leukemia
'Large granular lymphocyte leukemia' SubClassOf 'T-cell non-Hodgkin lymphoma'
'Large granular lymphocyte leukemia' SubClassOf 'group of disorders'
http://www.orpha.net/ORDO/Orphanet_500062
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
'Infantile-onset periodic fever-panniculitis-dermatosis syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
'Infantile-onset periodic fever-panniculitis-dermatosis syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
'Infantile-onset periodic fever-panniculitis-dermatosis syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Infantile-onset periodic fever-panniculitis-dermatosis syndrome' SubClassOf 'disease'
'Infantile-onset periodic fever-panniculitis-dermatosis syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 5.0f)
'Infantile-onset periodic fever-panniculitis-dermatosis syndrome' SubClassOf 'part_of' some 'Hereditary periodic fever syndrome'
'Infantile-onset periodic fever-panniculitis-dermatosis syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
http://www.orpha.net/ORDO/Orphanet_500095
Tall stature-intellectual disability-renal anomalies syndrome
'Tall stature-intellectual disability-renal anomalies syndrome' SubClassOf 'malformation syndrome'
'Tall stature-intellectual disability-renal anomalies syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'Tall stature-intellectual disability-renal anomalies syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 4.0f)
'Tall stature-intellectual disability-renal anomalies syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
'Tall stature-intellectual disability-renal anomalies syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Tall stature-intellectual disability-renal anomalies syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
'Tall stature-intellectual disability-renal anomalies syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
'Tall stature-intellectual disability-renal anomalies syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation'
'Tall stature-intellectual disability-renal anomalies syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
http://www.orpha.net/ORDO/Orphanet_2111
Cystic hamartoma of lung and kidney
'Cystic hamartoma of lung and kidney' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 3.0f)
'Cystic hamartoma of lung and kidney' SubClassOf 'disease'
'Cystic hamartoma of lung and kidney' SubClassOf 'has_AgeOfOnset' some 'infancy'
'Cystic hamartoma of lung and kidney' SubClassOf 'part_of' some 'Rare renal tumor'
'Cystic hamartoma of lung and kidney' SubClassOf 'has_inheritance' some 'unknown inheritance'
'Cystic hamartoma of lung and kidney' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Cystic hamartoma of lung and kidney' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation'
http://www.orpha.net/ORDO/Orphanet_502430
Metopic ridging-ptosis-facial dysmorphism syndrome
'Metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Rare disorder with ptosis'
'Metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Syndromic craniosynostosis'
'Metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf 'malformation syndrome'
'Metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
'Metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome'
'Metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf 'has_AgeOfOnset' some 'antenatal'
'Metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome'
'Metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 8.0f)
http://www.orpha.net/ORDO/Orphanet_502434
STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
'STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
'STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome' SubClassOf 'malformation syndrome'
'STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
'STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
'STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome' SubClassOf 'has_AgeOfOnset' some 'antenatal'
'STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 17.0f)
'STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
'STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
http://www.orpha.net/ORDO/Orphanet_502437
4q25 proximal deletion syndrome
'4q25 proximal deletion syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
'4q25 proximal deletion syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'4q25 proximal deletion syndrome' SubClassOf 'malformation syndrome'
'4q25 proximal deletion syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 3.0f)
'4q25 proximal deletion syndrome' SubClassOf 'part_of' some 'Partial deletion of the long arm of chromosome 4'
'4q25 proximal deletion syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome'
'4q25 proximal deletion syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome'
http://www.orpha.net/ORDO/Orphanet_502423
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'part_of' some 'Unspecified mitochondrial disorder'
'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'disease'
'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'has_AgeOfOnset' some 'adult'
'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'part_of' some 'Rare hereditary ataxia'
'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'part_of' some 'Mitochondrial myopathy'
'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 9.0f)
http://www.orpha.net/ORDO/Orphanet_493721
translocase of inner mitochondrial membrane 50
'translocase of inner mitochondrial membrane 50' SubClassOf 'gene with protein product'
'translocase of inner mitochondrial membrane 50' SubClassOf 'Disease-causing germline mutation(s) in' some '3-methylglutaconic aciduria type 9'
'translocase of inner mitochondrial membrane 50' SubClassOf 'has_chromosomal location' value "19q13.2"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_502444
Alkaline ceramidase 3 deficiency
'Alkaline ceramidase 3 deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Alkaline ceramidase 3 deficiency' SubClassOf 'disease'
'Alkaline ceramidase 3 deficiency' SubClassOf 'has_AgeOfOnset' some 'infancy'
'Alkaline ceramidase 3 deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 2.0f)
'Alkaline ceramidase 3 deficiency' SubClassOf 'part_of' some 'Leukodystrophy'
http://www.orpha.net/ORDO/Orphanet_502499
Erythema multiforme major
'Erythema multiforme major' SubClassOf 'part_of' some 'Toxic dermatosis'
'Erythema multiforme major' SubClassOf 'disease'
'Erythema multiforme major' SubClassOf 'has_AgeOfOnset' some 'all ages'
http://www.orpha.net/ORDO/Orphanet_2352
Kozlowski-Brown-Hardwick syndrome
'Kozlowski-Brown-Hardwick syndrome' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_502318
Cochlear nerve deficiency
'Cochlear nerve deficiency' SubClassOf 'morphological anomaly'
'Cochlear nerve deficiency' SubClassOf 'part_of' some 'Middle ear anomaly'
'Cochlear nerve deficiency' SubClassOf 'has_AgeOfOnset' some 'neonatal'
http://www.orpha.net/ORDO/Orphanet_502305
Cochleovestibular dysplasia
'Cochleovestibular dysplasia' SubClassOf 'has_AgeOfOnset' some 'neonatal'
'Cochleovestibular dysplasia' SubClassOf 'morphological anomaly'
'Cochleovestibular dysplasia' SubClassOf 'part_of' some 'Middle ear anomaly'
http://www.orpha.net/ORDO/Orphanet_502366
Squamous cell carcinoma of the lip
'Squamous cell carcinoma of the lip' SubClassOf 'disease'
'Squamous cell carcinoma of the lip' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'Worldwide') and ('has_annual_incidence_average_value' value 1.02f)
'Squamous cell carcinoma of the lip' SubClassOf 'part_of' some 'Squamous cell carcinoma of oral cavity and lip'
http://www.orpha.net/ORDO/Orphanet_502363
Squamous cell carcinoma of the oral cavity
'Squamous cell carcinoma of the oral cavity' SubClassOf 'disease'
'Squamous cell carcinoma of the oral cavity' SubClassOf 'part_of' some 'Squamous cell carcinoma of oral cavity and lip'
'Squamous cell carcinoma of the oral cavity' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'Europe') and ('has_annual_incidence_average_value' value 3.51f)
http://www.orpha.net/ORDO/Orphanet_502369
Squamous cell carcinoma of oral cavity and lip
'Squamous cell carcinoma of oral cavity and lip' SubClassOf 'Rare otorhinolaryngologic tumor'
'Squamous cell carcinoma of oral cavity and lip' SubClassOf 'group of disorders'
http://www.orpha.net/ORDO/Orphanet_492567
progesterone immunomodulatory binding factor 1
'progesterone immunomodulatory binding factor 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Joubert syndrome'
'progesterone immunomodulatory binding factor 1' SubClassOf 'gene with protein product'
'progesterone immunomodulatory binding factor 1' SubClassOf 'has_chromosomal location' value "13q21.33-q22.1"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_494042
sphingosine-1-phosphate lyase 1
'sphingosine-1-phosphate lyase 1' SubClassOf 'gene with protein product'
'sphingosine-1-phosphate lyase 1' SubClassOf 'has_chromosomal location' value "10q22.1"^^http://www.w3.org/2001/XMLSchema#string
'sphingosine-1-phosphate lyase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial steroid-resistant nephrotic syndrome with adrenal insufficiency'
http://www.orpha.net/ORDO/Orphanet_496693
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or abdominal wall malformation'
'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 7.0f)
'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf 'has_AgeOfOnset' some 'antenatal'
'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf 'part_of' some 'Syndrome with limb reduction defects'
'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf 'part_of' some 'Rare syndrome with cardiac malformations'
'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf 'part_of' some 'Genetic syndrome with limb reduction defects'
'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome'
'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf 'part_of' some 'Syndromic diaphragmatic or thoracic malformation'
'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf 'malformation syndrome'
'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome'
'Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
http://www.orpha.net/ORDO/Orphanet_496689
Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
'Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
'Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia'
'Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 12.0f)
'Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
'Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
'Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_496686
Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
'Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 3.0f)
'Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
'Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome' SubClassOf 'disease'
'Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
'Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome' SubClassOf 'has_AgeOfOnset' some 'childhood'
'Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome' SubClassOf 'part_of' some 'Myofibrillar myopathy'
'Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
http://www.orpha.net/ORDO/Orphanet_470016
Hikeshi, heat shock protein nuclear import factor
'Hikeshi, heat shock protein nuclear import factor' SubClassOf 'has_chromosomal location' value "11q14.2"^^http://www.w3.org/2001/XMLSchema#string
'Hikeshi, heat shock protein nuclear import factor' SubClassOf 'Disease-causing germline mutation(s) in' some 'C11ORF73-related autosomal recessive hypomyelinating leukodystrophy'
'Hikeshi, heat shock protein nuclear import factor' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_471344
YY1 transcription factor
'YY1 transcription factor' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Gabriele de Vries syndrome'
'YY1 transcription factor' SubClassOf 'has_chromosomal location' value "14q32.2"^^http://www.w3.org/2001/XMLSchema#string
'YY1 transcription factor' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_471340
exportin 1
'exportin 1' SubClassOf 'has_chromosomal location' value "2p15"^^http://www.w3.org/2001/XMLSchema#string
'exportin 1' SubClassOf 'gene with protein product'
'exportin 1' SubClassOf 'Candidate gene tested in' some 'Primary mediastinal large B-cell lymphoma'
http://www.orpha.net/ORDO/Orphanet_496641
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'malformation syndrome'
'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy'
'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'part_of' some 'Genetic neurodegenerative disease'
'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'part_of' some 'Syndromic hereditary optic neuropathy'
'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'part_of' some 'Rare neurodegenerative disease'
'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 22.0f)
http://www.orpha.net/ORDO/Orphanet_494099
lysine methyltransferase 2C
'lysine methyltransferase 2C' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Kleefstra syndrome due to a point mutation'
'lysine methyltransferase 2C' SubClassOf 'has_chromosomal location' value "7q36.1"^^http://www.w3.org/2001/XMLSchema#string
'lysine methyltransferase 2C' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_435623
OBSOLETE: Adactyly of foot
'OBSOLETE: Adactyly of foot' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_507938
angiopoietin like 6
'angiopoietin like 6' SubClassOf 'gene with protein product'
'angiopoietin like 6' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Familial cerebral saccular aneurysm'
'angiopoietin like 6' SubClassOf 'has_chromosomal location' value "19p13.2"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_507966
G protein-coupled receptor associated sorting protein 2
'G protein-coupled receptor associated sorting protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome'
'G protein-coupled receptor associated sorting protein 2' SubClassOf 'has_chromosomal location' value "Xq22.1"^^http://www.w3.org/2001/XMLSchema#string
'G protein-coupled receptor associated sorting protein 2' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_507959
OTU deubiquitinase with linear linkage specificity
'OTU deubiquitinase with linear linkage specificity' SubClassOf 'has_chromosomal location' value "5p15.2"^^http://www.w3.org/2001/XMLSchema#string
'OTU deubiquitinase with linear linkage specificity' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Infantile-onset periodic fever-panniculitis-dermatosis syndrome'
'OTU deubiquitinase with linear linkage specificity' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_505326
single stranded DNA binding protein 1
'single stranded DNA binding protein 1' SubClassOf 'Major susceptibility factor in' some 'Autosomal dominant non-syndromic sensorineural deafness type DFNA'
'single stranded DNA binding protein 1' SubClassOf 'has_chromosomal location' value "7q34"^^http://www.w3.org/2001/XMLSchema#string
'single stranded DNA binding protein 1' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_471312
ubiquitin specific peptidase 7
'ubiquitin specific peptidase 7' SubClassOf 'has_chromosomal location' value "16p13.2"^^http://www.w3.org/2001/XMLSchema#string
'ubiquitin specific peptidase 7' SubClassOf 'gene with protein product'
'ubiquitin specific peptidase 7' SubClassOf 'Role in the phenotype of' some '16p13.2 microdeletion syndrome'
http://www.orpha.net/ORDO/Orphanet_505319
coatomer protein complex subunit beta 2
'coatomer protein complex subunit beta 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive primary microcephaly'
'coatomer protein complex subunit beta 2' SubClassOf 'has_chromosomal location' value "3q23"^^http://www.w3.org/2001/XMLSchema#string
'coatomer protein complex subunit beta 2' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_494163
kyphoscoliosis peptidase
'kyphoscoliosis peptidase' SubClassOf 'gene with protein product'
'kyphoscoliosis peptidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome'
'kyphoscoliosis peptidase' SubClassOf 'has_chromosomal location' value "3q22.2"^^http://www.w3.org/2001/XMLSchema#string
'kyphoscoliosis peptidase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome'
http://www.orpha.net/ORDO/Orphanet_496790
Optic atrophy-peripheral neuropathy-developmental delay syndrome
'Optic atrophy-peripheral neuropathy-developmental delay syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
'Optic atrophy-peripheral neuropathy-developmental delay syndrome' SubClassOf 'part_of' some 'Unspecified mitochondrial disorder'
'Optic atrophy-peripheral neuropathy-developmental delay syndrome' SubClassOf 'disease'
'Optic atrophy-peripheral neuropathy-developmental delay syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Optic atrophy-peripheral neuropathy-developmental delay syndrome' SubClassOf 'part_of' some 'Mitochondrial disease with hypertrophic cardiomyopathy'
'Optic atrophy-peripheral neuropathy-developmental delay syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 8.0f)
'Optic atrophy-peripheral neuropathy-developmental delay syndrome' SubClassOf 'part_of' some 'Rare hereditary metabolic disease with peripheral neuropathy'
'Optic atrophy-peripheral neuropathy-developmental delay syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
'Optic atrophy-peripheral neuropathy-developmental delay syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
'Optic atrophy-peripheral neuropathy-developmental delay syndrome' SubClassOf 'part_of' some 'Syndromic hereditary optic neuropathy'
'Optic atrophy-peripheral neuropathy-developmental delay syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
http://www.orpha.net/ORDO/Orphanet_496756
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf 'part_of' some 'Autosomal recessive degenerative and progressive cerebellar ataxia'
'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf 'part_of' some 'Neurodegeneration with brain iron accumulation'
'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf 'part_of' some 'Autosomal recessive distal hereditary motor neuropathy'
'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf 'disease'
'Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 6.0f)
http://www.orpha.net/ORDO/Orphanet_496751
EVEN-plus syndrome
'EVEN-plus syndrome' SubClassOf 'has_AgeOfOnset' some 'antenatal'
'EVEN-plus syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
'EVEN-plus syndrome' SubClassOf 'part_of' some 'Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia'
'EVEN-plus syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 3.0f)
'EVEN-plus syndrome' SubClassOf 'part_of' some 'Syndromic anorectal malformation'
'EVEN-plus syndrome' SubClassOf 'part_of' some 'Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability'
'EVEN-plus syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome without intellectual disability'
'EVEN-plus syndrome' SubClassOf 'malformation syndrome'
'EVEN-plus syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
http://www.orpha.net/ORDO/Orphanet_507848
epidermal growth factor receptor pathway substrate 15 like 1
'epidermal growth factor receptor pathway substrate 15 like 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Isolated split hand-split foot malformation'
'epidermal growth factor receptor pathway substrate 15 like 1' SubClassOf 'gene with protein product'
'epidermal growth factor receptor pathway substrate 15 like 1' SubClassOf 'has_chromosomal location' value "19p13.11"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_507834
short chain dehydrogenase/reductase family 9C member 7
'short chain dehydrogenase/reductase family 9C member 7' SubClassOf 'Disease-causing germline mutation(s) in' some 'Lamellar ichthyosis'
'short chain dehydrogenase/reductase family 9C member 7' SubClassOf 'has_chromosomal location' value "12q13.3"^^http://www.w3.org/2001/XMLSchema#string
'short chain dehydrogenase/reductase family 9C member 7' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_507868
kinesin family member 20A
'kinesin family member 20A' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Familial isolated restrictive cardiomyopathy'
'kinesin family member 20A' SubClassOf 'has_chromosomal location' value "5q31.2"^^http://www.w3.org/2001/XMLSchema#string
'kinesin family member 20A' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_505208
3-methylglutaconic aciduria type 8
'3-methylglutaconic aciduria type 8' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 9.0f)
'3-methylglutaconic aciduria type 8' SubClassOf 'part_of' some '3-methylglutaconic aciduria'
'3-methylglutaconic aciduria type 8' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'3-methylglutaconic aciduria type 8' SubClassOf 'part_of' some 'Neurometabolic disease'
'3-methylglutaconic aciduria type 8' SubClassOf 'has_AgeOfOnset' some 'neonatal'
'3-methylglutaconic aciduria type 8' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_505227
Combined immunodeficiency due to GINS1 deficiency
'Combined immunodeficiency due to GINS1 deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 5.0f)
'Combined immunodeficiency due to GINS1 deficiency' SubClassOf 'disease'
'Combined immunodeficiency due to GINS1 deficiency' SubClassOf 'part_of' some 'DNA repair defect other than combined T-cell and B-cell immunodeficiencies'
'Combined immunodeficiency due to GINS1 deficiency' SubClassOf 'has_inheritance' some 'autosomal recessive'
'Combined immunodeficiency due to GINS1 deficiency' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Combined immunodeficiency due to GINS1 deficiency' SubClassOf 'has_AgeOfOnset' some 'antenatal'
'Combined immunodeficiency due to GINS1 deficiency' SubClassOf 'has_AgeOfOnset' some 'neonatal'
http://www.orpha.net/ORDO/Orphanet_79344
Autosomal dominant chondrodysplasia punctata
'Autosomal dominant chondrodysplasia punctata' SubClassOf 'has_AgeOfOnset' some 'neonatal'
'Autosomal dominant chondrodysplasia punctata' SubClassOf 'part_of' some 'Non-rhizomelic chondrodysplasia punctata'
'Autosomal dominant chondrodysplasia punctata' SubClassOf 'has_inheritance' some 'autosomal dominant'
'Autosomal dominant chondrodysplasia punctata' SubClassOf 'malformation syndrome'
'Autosomal dominant chondrodysplasia punctata' SubClassOf 'has_AgeOfOnset' some 'antenatal'
http://www.orpha.net/ORDO/Orphanet_505216
3-methylglutaconic aciduria type 9
'3-methylglutaconic aciduria type 9' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
'3-methylglutaconic aciduria type 9' SubClassOf 'part_of' some '3-methylglutaconic aciduria'
'3-methylglutaconic aciduria type 9' SubClassOf 'has_inheritance' some 'autosomal recessive'
'3-methylglutaconic aciduria type 9' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'3-methylglutaconic aciduria type 9' SubClassOf 'has_AgeOfOnset' some 'infancy'
'3-methylglutaconic aciduria type 9' SubClassOf 'part_of' some 'Neurometabolic disease'
'3-methylglutaconic aciduria type 9' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
'3-methylglutaconic aciduria type 9' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 4.0f)
'3-methylglutaconic aciduria type 9' SubClassOf 'disease'
'3-methylglutaconic aciduria type 9' SubClassOf 'part_of' some 'Amino acid or protein metabolism disease with epilepsy'
http://www.orpha.net/ORDO/Orphanet_507877
sperm associated antigen 17
'sperm associated antigen 17' SubClassOf 'Disease-causing germline mutation(s) in' some 'Non-syndromic male infertility due to sperm motility disorder'
'sperm associated antigen 17' SubClassOf 'has_chromosomal location' value "1p12"^^http://www.w3.org/2001/XMLSchema#string
'sperm associated antigen 17' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_505248
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'part_of' some 'Rare pulmonary disease'
'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'has_AgeOfOnset' some 'infancy'
'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'part_of' some 'Dysostosis with predominant vertebral and costal involvement'
'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'malformation syndrome'
'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 19.0f)
'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'part_of' some 'Rare genetic respiratory disease'
'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
http://www.orpha.net/ORDO/Orphanet_505242
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'part_of' some 'Genetic neurodegenerative disease'
'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'part_of' some 'Disorder of zinc metabolism and transport'
'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'part_of' some 'Oculomotor apraxia or related oculomotor disease'
'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'disease'
'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'part_of' some 'Rare renal tubular disease'
'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'part_of' some 'Rare neurodegenerative disease'
'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'part_of' some 'Genetic renal tubular disease'
'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 6.0f)
'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
http://www.orpha.net/ORDO/Orphanet_506358
Gabriele de Vries syndrome
'Gabriele de Vries syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Gabriele de Vries syndrome' SubClassOf 'malformation syndrome'
'Gabriele de Vries syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
'Gabriele de Vries syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'Gabriele de Vries syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
'Gabriele de Vries syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 10.0f)
'Gabriele de Vries syndrome' SubClassOf 'has_AgeOfOnset' some 'antenatal'
'Gabriele de Vries syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
http://www.orpha.net/ORDO/Orphanet_506353
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction' SubClassOf 'part_of' some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement'
'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction' SubClassOf 'has_AgeOfOnset' some 'infancy'
'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction' SubClassOf 'has_AgeOfOnset' some 'childhood'
'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction' SubClassOf 'part_of' some 'Autosomal recessive complex spastic paraplegia'
'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction' SubClassOf 'disease'
'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 4.0f)
http://www.orpha.net/ORDO/Orphanet_471156
stromal antigen 1
'stromal antigen 1' SubClassOf 'gene with protein product'
'stromal antigen 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome'
'stromal antigen 1' SubClassOf 'has_chromosomal location' value "3q22.3"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_506368
ARV1 homolog, fatty acid homeostasis modulator
'ARV1 homolog, fatty acid homeostasis modulator' SubClassOf 'Candidate gene tested in' some 'Undetermined early-onset epileptic encephalopathy'
'ARV1 homolog, fatty acid homeostasis modulator' SubClassOf 'has_chromosomal location' value "1q42.2"^^http://www.w3.org/2001/XMLSchema#string
'ARV1 homolog, fatty acid homeostasis modulator' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_471134
SON DNA binding protein
'SON DNA binding protein' SubClassOf 'has_chromosomal location' value "21q22.11"^^http://www.w3.org/2001/XMLSchema#string
'SON DNA binding protein' SubClassOf 'gene with protein product'
'SON DNA binding protein' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome'
http://www.orpha.net/ORDO/Orphanet_471180
TGF-beta activated kinase 1 (MAP3K7) binding protein 2
'TGF-beta activated kinase 1 (MAP3K7) binding protein 2' SubClassOf 'has_chromosomal location' value "6q25.1"^^http://www.w3.org/2001/XMLSchema#string
'TGF-beta activated kinase 1 (MAP3K7) binding protein 2' SubClassOf 'gene with protein product'
'TGF-beta activated kinase 1 (MAP3K7) binding protein 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Polyvalvular heart disease syndrome'
'TGF-beta activated kinase 1 (MAP3K7) binding protein 2' SubClassOf 'Role in the phenotype of' some 'Polyvalvular heart disease syndrome'
http://www.orpha.net/ORDO/Orphanet_471192
tubulin folding cofactor D
'tubulin folding cofactor D' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome'
'tubulin folding cofactor D' SubClassOf 'has_chromosomal location' value "17q25.3"^^http://www.w3.org/2001/XMLSchema#string
'tubulin folding cofactor D' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_506401
gamma-glutamyltransferase 1
'gamma-glutamyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gamma-glutamyl transpeptidase deficiency'
'gamma-glutamyltransferase 1' SubClassOf 'gene with protein product'
'gamma-glutamyltransferase 1' SubClassOf 'has_chromosomal location' value "22q11.23"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_93937
OBSOLETE: Terminal transverse defects of arm
'OBSOLETE: Terminal transverse defects of arm' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_471288
ubiquitin fold modifier 1
'ubiquitin fold modifier 1' SubClassOf 'has_chromosomal location' value "13q13.3"^^http://www.w3.org/2001/XMLSchema#string
'ubiquitin fold modifier 1' SubClassOf 'gene with protein product'
'ubiquitin fold modifier 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypomyelination with atrophy of basal ganglia and cerebellum'
http://www.orpha.net/ORDO/Orphanet_495237
STE20-related kinase adaptor alpha
'STE20-related kinase adaptor alpha' SubClassOf 'has_chromosomal location' value "17q23.3"^^http://www.w3.org/2001/XMLSchema#string
'STE20-related kinase adaptor alpha' SubClassOf 'gene with protein product'
'STE20-related kinase adaptor alpha' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome'
http://www.orpha.net/ORDO/Orphanet_506307
Stromme syndrome
'Stromme syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
'Stromme syndrome' SubClassOf 'malformation syndrome'
'Stromme syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'Stromme syndrome' SubClassOf 'part_of' some 'Syndromic developmental defect of the eye'
'Stromme syndrome' SubClassOf 'part_of' some 'Developmental defect of the eye'
'Stromme syndrome' SubClassOf 'part_of' some 'Syndromic intestinal malformation'
http://www.orpha.net/ORDO/Orphanet_506334
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
'Familial steroid-resistant nephrotic syndrome with adrenal insufficiency' SubClassOf 'disease'
'Familial steroid-resistant nephrotic syndrome with adrenal insufficiency' SubClassOf 'part_of' some 'Genetic chronic primary adrenal insufficiency'
'Familial steroid-resistant nephrotic syndrome with adrenal insufficiency' SubClassOf 'part_of' some 'Disorder of phospholipids, sphingolipids and fatty acids biosynthesis'
'Familial steroid-resistant nephrotic syndrome with adrenal insufficiency' SubClassOf 'part_of' some 'Congenital and infantile nephrotic syndrome'
http://www.orpha.net/ORDO/Orphanet_503127
nucleoredoxin
'nucleoredoxin' SubClassOf 'has_chromosomal location' value "17p13.3"^^http://www.w3.org/2001/XMLSchema#string
'nucleoredoxin' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive Robinow syndrome'
'nucleoredoxin' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_504476
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
'Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome' SubClassOf 'part_of' some 'Autosomal recessive syndromic cerebellar ataxia'
'Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome' SubClassOf 'part_of' some 'Cerebellar ataxia with peripheral neuropathy'
'Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome' SubClassOf 'disease'
'Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome' SubClassOf 'part_of' some 'Rare otorhinolaryngologic disease'
http://www.orpha.net/ORDO/Orphanet_1773
Sacrococcygeal dysgenesis association
'Sacrococcygeal dysgenesis association' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_289390
Primary Sjögren syndrome
'Primary Sjögren syndrome' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 3.9f)
'Primary Sjögren syndrome' SubClassOf ('present_in' some 'Greece') and ('has_point_prevalence_range' some '6-9 / 10 000') and ('has_point_prevalence_average_value' value 86.398f)
'Primary Sjögren syndrome' SubClassOf 'part_of' some 'Systemic autoimmune disease'
'Primary Sjögren syndrome' SubClassOf ('present_in' some 'France') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 11.343f)
'Primary Sjögren syndrome' SubClassOf ('present_in' some 'Denmark') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 45.47f)
'Primary Sjögren syndrome' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 48.99f)
'Primary Sjögren syndrome' SubClassOf ('present_in' some 'Norway') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 49.745f)
'Primary Sjögren syndrome' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_505623
5-hydroxytryptamine receptor 1A
'5-hydroxytryptamine receptor 1A' SubClassOf 'Candidate gene tested in' some 'Menstrual cycle-dependent periodic fever'
'5-hydroxytryptamine receptor 1A' SubClassOf 'gene with protein product'
'5-hydroxytryptamine receptor 1A' SubClassOf 'has_chromosomal location' value "5q12.3"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_494550
Squamous cell carcinoma of the larynx
'Squamous cell carcinoma of the larynx' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor'
'Squamous cell carcinoma of the larynx' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'Europe') and ('has_annual_incidence_average_value' value 4.61f)
'Squamous cell carcinoma of the larynx' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_494547
Squamous cell carcinoma of the hypopharynx
'Squamous cell carcinoma of the hypopharynx' SubClassOf 'disease'
'Squamous cell carcinoma of the hypopharynx' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'Europe') and ('has_annual_incidence_average_value' value 1.27f)
'Squamous cell carcinoma of the hypopharynx' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor'
http://www.orpha.net/ORDO/Orphanet_470286
erythropoietin
'erythropoietin' SubClassOf 'gene with protein product'
'erythropoietin' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Autosomal dominant secondary polycythemia'
'erythropoietin' SubClassOf 'has_chromosomal location' value "7q22.1"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_470204
discs large MAGUK scaffold protein 1
'discs large MAGUK scaffold protein 1' SubClassOf 'gene with protein product'
'discs large MAGUK scaffold protein 1' SubClassOf 'Major susceptibility factor in' some 'Cleft lip/palate'
'discs large MAGUK scaffold protein 1' SubClassOf 'has_chromosomal location' value "3q29"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_505586
leucine rich repeat kinase 1
'leucine rich repeat kinase 1' SubClassOf 'gene with protein product'
'leucine rich repeat kinase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Osteosclerotic metaphyseal dysplasia'
'leucine rich repeat kinase 1' SubClassOf 'has_chromosomal location' value "15q26.3"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_505596
nucleus accumbens associated 1
'nucleus accumbens associated 1' SubClassOf 'has_chromosomal location' value "19p13.13"^^http://www.w3.org/2001/XMLSchema#string
'nucleus accumbens associated 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract'
'nucleus accumbens associated 1' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_1844
OBSOLETE: Bone dysplasia, Azouz type
'OBSOLETE: Bone dysplasia, Azouz type' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_470380
GINS complex subunit 1
'GINS complex subunit 1' SubClassOf 'has_chromosomal location' value "20p11.21"^^http://www.w3.org/2001/XMLSchema#string
'GINS complex subunit 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Combined immunodeficiency due to GINS1 deficiency'
'GINS complex subunit 1' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_470366
gamma-aminobutyric acid type A receptor beta2 subunit
'gamma-aminobutyric acid type A receptor beta2 subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Undetermined early-onset epileptic encephalopathy'
'gamma-aminobutyric acid type A receptor beta2 subunit' SubClassOf 'has_chromosomal location' value "5q34"^^http://www.w3.org/2001/XMLSchema#string
'gamma-aminobutyric acid type A receptor beta2 subunit' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_506784
Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome
'Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome' SubClassOf 'clinical subtype'
'Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome' SubClassOf 'part_of' some 'Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum'
http://www.orpha.net/ORDO/Orphanet_510655
VPS33A, CORVET/HOPS core subunit
'VPS33A, CORVET/HOPS core subunit' SubClassOf 'has_chromosomal location' value "12q24.31"^^http://www.w3.org/2001/XMLSchema#string
'VPS33A, CORVET/HOPS core subunit' SubClassOf 'gene with protein product'
'VPS33A, CORVET/HOPS core subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders'
http://www.orpha.net/ORDO/Orphanet_510666
CWC27 spliceosome associated protein homolog
'CWC27 spliceosome associated protein homolog' SubClassOf 'gene with protein product'
'CWC27 spliceosome associated protein homolog' SubClassOf 'Disease-causing germline mutation(s) in' some 'Brachydactyly-short stature-retinitis pigmentosa syndrome'
http://www.orpha.net/ORDO/Orphanet_510688
solute carrier family 30 member 9
'solute carrier family 30 member 9' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome'
'solute carrier family 30 member 9' SubClassOf 'has_chromosomal location' value "4p13"^^http://www.w3.org/2001/XMLSchema#string
'solute carrier family 30 member 9' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_510714
trafficking kinesin protein 1
'trafficking kinesin protein 1' SubClassOf 'gene with protein product'
'trafficking kinesin protein 1' SubClassOf 'has_chromosomal location' value "3p22.1"^^http://www.w3.org/2001/XMLSchema#string
'trafficking kinesin protein 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Undetermined early-onset epileptic encephalopathy'
http://www.orpha.net/ORDO/Orphanet_510706
selenoprotein I
'selenoprotein I' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction'
'selenoprotein I' SubClassOf 'gene with protein product'
'selenoprotein I' SubClassOf 'has_chromosomal location' value "2p23.3"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_497188
Diffuse intrinsic pontine glioma
'Diffuse intrinsic pontine glioma' SubClassOf ('has_annual_incidence_range' some '1 / 1 000 000') and ('present_in' some 'Netherlands') and ('has_annual_incidence_average_value' value 0.056f)
'Diffuse intrinsic pontine glioma' SubClassOf 'has_AgeOfOnset' some 'all ages'
'Diffuse intrinsic pontine glioma' SubClassOf 'disease'
'Diffuse intrinsic pontine glioma' SubClassOf 'part_of' some 'High-grade astrocytoma'
http://www.orpha.net/ORDO/Orphanet_498228
Phyllodes tumor of the prostate
'Phyllodes tumor of the prostate' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 90.0f)
'Phyllodes tumor of the prostate' SubClassOf 'has_AgeOfOnset' some 'adult'
'Phyllodes tumor of the prostate' SubClassOf 'part_of' some 'Rare urinary tract tumor'
'Phyllodes tumor of the prostate' SubClassOf 'has_AgeOfOnset' some 'elderly'
'Phyllodes tumor of the prostate' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_439849
Autosomal recessive severe congenital neutropenia
'Autosomal recessive severe congenital neutropenia' SubClassOf 'group of disorders'
'Autosomal recessive severe congenital neutropenia' SubClassOf 'Severe congenital neutropenia'
http://www.orpha.net/ORDO/Orphanet_508018
trafficking protein particle complex 12
'trafficking protein particle complex 12' SubClassOf 'has_chromosomal location' value "2p25.3"^^http://www.w3.org/2001/XMLSchema#string
'trafficking protein particle complex 12' SubClassOf 'gene with protein product'
'trafficking protein particle complex 12' SubClassOf 'Disease-causing germline mutation(s) in' some 'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome'
http://www.orpha.net/ORDO/Orphanet_498359
Aquagenic palmoplantar keratoderma
'Aquagenic palmoplantar keratoderma' SubClassOf 'has_AgeOfOnset' some 'adolescent'
'Aquagenic palmoplantar keratoderma' SubClassOf 'part_of' some 'Other epidermal disorder'
'Aquagenic palmoplantar keratoderma' SubClassOf 'has_AgeOfOnset' some 'adult'
'Aquagenic palmoplantar keratoderma' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some 'Unknown_epidemiological_range')
'Aquagenic palmoplantar keratoderma' SubClassOf 'disease'
'Aquagenic palmoplantar keratoderma' SubClassOf 'has_AgeOfOnset' some 'childhood'
'Aquagenic palmoplantar keratoderma' SubClassOf 'has_AgeOfOnset' some 'infancy'
http://www.orpha.net/ORDO/Orphanet_498350
Syndromic biliary atresia
'Syndromic biliary atresia' SubClassOf 'Biliary atresia and associated disorders'
'Syndromic biliary atresia' SubClassOf 'group of disorders'
http://www.orpha.net/ORDO/Orphanet_498345
Biliary atresia and associated disorders
'Biliary atresia and associated disorders' SubClassOf 'group of disorders'
'Biliary atresia and associated disorders' SubClassOf 'Rare biliary tract disease'
http://www.orpha.net/ORDO/Orphanet_508029
upstream binding transcription factor
'upstream binding transcription factor' SubClassOf 'gene with protein product'
'upstream binding transcription factor' SubClassOf 'Disease-causing germline mutation(s) (gain of function) in' some 'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder'
'upstream binding transcription factor' SubClassOf 'has_chromosomal location' value "17q21.31"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_498301
ring finger and WD repeat domain 3
'ring finger and WD repeat domain 3' SubClassOf 'gene with protein product'
'ring finger and WD repeat domain 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Fanconi anemia'
'ring finger and WD repeat domain 3' SubClassOf 'has_chromosomal location' value "16q23.1"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_508071
FGF1 intracellular binding protein
'FGF1 intracellular binding protein' SubClassOf 'gene with protein product'
'FGF1 intracellular binding protein' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Tall stature-intellectual disability-renal anomalies syndrome'
'FGF1 intracellular binding protein' SubClassOf 'has_chromosomal location' value "11q13.1"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_498251
Menstrual cycle-dependent periodic fever
'Menstrual cycle-dependent periodic fever' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 5.0f)
'Menstrual cycle-dependent periodic fever' SubClassOf 'has_AgeOfOnset' some 'adult'
'Menstrual cycle-dependent periodic fever' SubClassOf 'part_of' some 'Anomaly of puberty or/and menstrual cycle'
'Menstrual cycle-dependent periodic fever' SubClassOf 'has_AgeOfOnset' some 'adolescent'
'Menstrual cycle-dependent periodic fever' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Menstrual cycle-dependent periodic fever' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_506112
Mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas
'Mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas' SubClassOf 'disease'
'Mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas' SubClassOf 'part_of' some 'Neuroendocrine neoplasm of pancreas'
http://www.orpha.net/ORDO/Orphanet_506136
Neuroendocrine neoplasm of esophagus
'Neuroendocrine neoplasm of esophagus' SubClassOf 'part_of' some 'Rare gastroesophageal tumor'
'Neuroendocrine neoplasm of esophagus' SubClassOf 'part_of' some 'Gastroenteric neuroendocrine neoplasm'
'Neuroendocrine neoplasm of esophagus' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_506124
OBSOLETE: Neuroendocrine tumor of small intestine
'OBSOLETE: Neuroendocrine tumor of small intestine' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_158014
Rosaï-Dorfman disease
'Rosaï-Dorfman disease' SubClassOf 'disease'
'Rosaï-Dorfman disease' SubClassOf 'has_AgeOfOnset' some 'adult'
'Rosaï-Dorfman disease' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 1000.0f)
'Rosaï-Dorfman disease' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some 'Unknown_epidemiological_range')
'Rosaï-Dorfman disease' SubClassOf 'part_of' some 'Non-Langerhans cell histiocytosis'
'Rosaï-Dorfman disease' SubClassOf 'has_AgeOfOnset' some 'adolescent'
http://www.orpha.net/ORDO/Orphanet_471032
sodium voltage-gated channel alpha subunit 3
'sodium voltage-gated channel alpha subunit 3' SubClassOf 'has_chromosomal location' value "2q24.3"^^http://www.w3.org/2001/XMLSchema#string
'sodium voltage-gated channel alpha subunit 3' SubClassOf 'gene with protein product'
'sodium voltage-gated channel alpha subunit 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Undetermined early-onset epileptic encephalopathy'
http://www.orpha.net/ORDO/Orphanet_508692
misato 1, mitochondrial distribution and morphology regulator
'misato 1, mitochondrial distribution and morphology regulator' SubClassOf 'has_chromosomal location' value "1q22"^^http://www.w3.org/2001/XMLSchema#string
'misato 1, mitochondrial distribution and morphology regulator' SubClassOf 'gene with protein product'
'misato 1, mitochondrial distribution and morphology regulator' SubClassOf 'Disease-causing germline mutation(s) in' some 'Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome'
http://www.orpha.net/ORDO/Orphanet_508685
prolyl 4-hydroxylase subunit alpha 1
'prolyl 4-hydroxylase subunit alpha 1' SubClassOf 'has_chromosomal location' value "10q22.1"^^http://www.w3.org/2001/XMLSchema#string
'prolyl 4-hydroxylase subunit alpha 1' SubClassOf 'gene with protein product'
'prolyl 4-hydroxylase subunit alpha 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ehlers-Danlos syndrome, musculocontractural type'
http://www.orpha.net/ORDO/Orphanet_506052
Neuroendocrine neoplasm of pancreas
'Neuroendocrine neoplasm of pancreas' SubClassOf 'group of disorders'
'Neuroendocrine neoplasm of pancreas' SubClassOf 'Rare epithelial tumor of pancreas'
'Neuroendocrine neoplasm of pancreas' SubClassOf 'Gastroenteropancreatic neuroendocrine neoplasm'
http://www.orpha.net/ORDO/Orphanet_486955
Rare pediatric rheumatologic disease
'Rare pediatric rheumatologic disease' SubClassOf 'group of disorders'
'Rare pediatric rheumatologic disease' SubClassOf 'Rare systemic or rheumatological disease of childhood'
http://www.orpha.net/ORDO/Orphanet_506075
Non-functioning neuroendocrine tumor of pancreas
'Non-functioning neuroendocrine tumor of pancreas' SubClassOf 'has_AgeOfOnset' some 'adult'
'Non-functioning neuroendocrine tumor of pancreas' SubClassOf 'disease'
'Non-functioning neuroendocrine tumor of pancreas' SubClassOf 'has_AgeOfOnset' some 'elderly'
'Non-functioning neuroendocrine tumor of pancreas' SubClassOf 'part_of' some 'Neuroendocrine tumor of pancreas'
http://www.orpha.net/ORDO/Orphanet_506060
Functioning neuroendocrine tumor of pancreas
'Functioning neuroendocrine tumor of pancreas' SubClassOf 'has_AgeOfOnset' some 'adult'
'Functioning neuroendocrine tumor of pancreas' SubClassOf 'group of disorders'
'Functioning neuroendocrine tumor of pancreas' SubClassOf 'has_AgeOfOnset' some 'elderly'
'Functioning neuroendocrine tumor of pancreas' SubClassOf 'Neuroendocrine tumor of pancreas'
http://www.orpha.net/ORDO/Orphanet_506090
Serotonin-producing neuroendocrine tumor of pancreas
'Serotonin-producing neuroendocrine tumor of pancreas' SubClassOf 'part_of' some 'Functioning neuroendocrine tumor of pancreas'
'Serotonin-producing neuroendocrine tumor of pancreas' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_506098
Neuroendocrine carcinoma of pancreas
'Neuroendocrine carcinoma of pancreas' SubClassOf 'part_of' some 'Neuroendocrine neoplasm of pancreas'
'Neuroendocrine carcinoma of pancreas' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_471072
solute carrier family 1 member 2
'solute carrier family 1 member 2' SubClassOf 'has_chromosomal location' value "11p13"^^http://www.w3.org/2001/XMLSchema#string
'solute carrier family 1 member 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Undetermined early-onset epileptic encephalopathy'
'solute carrier family 1 member 2' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_508711
zinc finger protein 462
'zinc finger protein 462' SubClassOf 'gene with protein product'
'zinc finger protein 462' SubClassOf 'Disease-causing germline mutation(s) in' some 'Metopic ridging-ptosis-facial dysmorphism syndrome'
'zinc finger protein 462' SubClassOf 'has_chromosomal location' value "9q31.2"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_498693
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
'MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
'MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 4.0f)
'MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome' SubClassOf 'part_of' some 'Arthrogryposis multiplex congenita'
'MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_294990
OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb
'OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_294994
OBSOLETE: Split foot
'OBSOLETE: Split foot' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_294992
OBSOLETE: Split hand
'OBSOLETE: Split hand' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_294998
OBSOLETE: Brachydactyly of toes
'OBSOLETE: Brachydactyly of toes' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_294996
OBSOLETE: Brachydactyly of fingers
'OBSOLETE: Brachydactyly of fingers' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_280369
Rare pediatric vasculitis
'Rare pediatric vasculitis' SubClassOf 'group of disorders'
'Rare pediatric vasculitis' SubClassOf 'Rare systemic or rheumatological disease of childhood'
http://www.orpha.net/ORDO/Orphanet_508638
alkaline ceramidase 3
'alkaline ceramidase 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'Alkaline ceramidase 3 deficiency'
'alkaline ceramidase 3' SubClassOf 'gene with protein product'
'alkaline ceramidase 3' SubClassOf 'has_chromosomal location' value "11q13.5"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_280373
Rare pediatric systemic disease
'Rare pediatric systemic disease' SubClassOf 'group of disorders'
'Rare pediatric systemic disease' SubClassOf 'Rare systemic or rheumatological disease of childhood'
http://www.orpha.net/ORDO/Orphanet_294942
OBSOLETE: Postaxial polydactyly of fingers
'OBSOLETE: Postaxial polydactyly of fingers' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_510728
linker for activation of T cells
'linker for activation of T cells' SubClassOf 'Disease-causing germline mutation(s) in' some 'Severe combined immunodeficiency due to LAT deficiency'
'linker for activation of T cells' SubClassOf 'gene with protein product'
'linker for activation of T cells' SubClassOf 'has_chromosomal location' value "16q13"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_484112
ubiquitin specific peptidase 18
'ubiquitin specific peptidase 18' SubClassOf 'gene with protein product'
'ubiquitin specific peptidase 18' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'USP18 deficiency'
'ubiquitin specific peptidase 18' SubClassOf 'has_chromosomal location' value "22q11.2"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_280342
Rare systemic or rheumatological disease of childhood
'Rare systemic or rheumatological disease of childhood' SubClassOf 'group of disorders'
http://www.orpha.net/ORDO/Orphanet_498700
Limbic encephalitis with neurexin-3 antibodies
'Limbic encephalitis with neurexin-3 antibodies' SubClassOf 'part_of' some 'Non-paraneoplastic limbic encephalitis'
'Limbic encephalitis with neurexin-3 antibodies' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Limbic encephalitis with neurexin-3 antibodies' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 5.0f)
'Limbic encephalitis with neurexin-3 antibodies' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_294929
OBSOLETE: Terminal limb defects
'OBSOLETE: Terminal limb defects' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_294931
OBSOLETE: Adactyly of hand
'OBSOLETE: Adactyly of hand' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_294937
OBSOLETE: Brachydactyly
'OBSOLETE: Brachydactyly' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_294935
OBSOLETE: Split hand or/and split foot malformation
'OBSOLETE: Split hand or/and split foot malformation' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_294939
OBSOLETE: Preaxial polydactyly of fingers
'OBSOLETE: Preaxial polydactyly of fingers' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_496171
ferric chelate reductase 1 like
'ferric chelate reductase 1 like' SubClassOf 'has_chromosomal location' value "9q31.3"^^http://www.w3.org/2001/XMLSchema#string
'ferric chelate reductase 1 like' SubClassOf 'Candidate gene tested in' some 'Continuous spikes and waves during sleep'
'ferric chelate reductase 1 like' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal recessive non-syndromic intellectual disability'
'ferric chelate reductase 1 like' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_500478
Squamous cell carcinoma of the oropharynx
'Squamous cell carcinoma of the oropharynx' SubClassOf 'disease'
'Squamous cell carcinoma of the oropharynx' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'Europe') and ('has_annual_incidence_average_value' value 3.12f)
'Squamous cell carcinoma of the oropharynx' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor'
http://www.orpha.net/ORDO/Orphanet_500464
Squamous cell carcinoma of the nasal cavity and paranasal sinuses
'Squamous cell carcinoma of the nasal cavity and paranasal sinuses' SubClassOf 'disease'
'Squamous cell carcinoma of the nasal cavity and paranasal sinuses' SubClassOf 'part_of' some 'Rare otorhinolaryngologic tumor'
'Squamous cell carcinoma of the nasal cavity and paranasal sinuses' SubClassOf ('has_annual_incidence_range' some '1-9 / 1 000 000') and ('present_in' some 'Worldwide') and ('has_annual_incidence_average_value' value 0.35f)
http://www.orpha.net/ORDO/Orphanet_500484
NUS1, dehydrodolichyl diphosphate synthase subunit
'NUS1, dehydrodolichyl diphosphate synthase subunit' SubClassOf 'gene with protein product'
'NUS1, dehydrodolichyl diphosphate synthase subunit' SubClassOf 'has_chromosomal location' value "6q22.1"^^http://www.w3.org/2001/XMLSchema#string
'NUS1, dehydrodolichyl diphosphate synthase subunit' SubClassOf 'Disease-causing germline mutation(s) in' some 'Undetermined early-onset epileptic encephalopathy'
http://www.orpha.net/ORDO/Orphanet_500481
Squamous cell carcinoma of salivary glands
'Squamous cell carcinoma of salivary glands' SubClassOf 'part_of' some 'Malignant epithelial tumor of salivary glands'
'Squamous cell carcinoma of salivary glands' SubClassOf 'histopathological subtype'
http://www.orpha.net/ORDO/Orphanet_501662
myosin IH
'myosin IH' SubClassOf 'gene with protein product'
'myosin IH' SubClassOf 'has_chromosomal location' value "12q24.11"^^http://www.w3.org/2001/XMLSchema#string
'myosin IH' SubClassOf 'Disease-causing germline mutation(s) in' some 'Ondine syndrome'
http://www.orpha.net/ORDO/Orphanet_501665
filaggrin family member 2
'filaggrin family member 2' SubClassOf 'has_chromosomal location' value "1q21.3"^^http://www.w3.org/2001/XMLSchema#string
'filaggrin family member 2' SubClassOf 'gene with protein product'
'filaggrin family member 2' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Peeling skin syndrome type A'
http://www.orpha.net/ORDO/Orphanet_501654
cadherin 11
'cadherin 11' SubClassOf 'gene with protein product'
'cadherin 11' SubClassOf 'has_chromosomal location' value "16q21"^^http://www.w3.org/2001/XMLSchema#string
'cadherin 11' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Branchioskeletogenital syndrome'
http://www.orpha.net/ORDO/Orphanet_500352
exosome component 2
'exosome component 2' SubClassOf 'Disease-causing germline mutation(s) in' some 'Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome'
'exosome component 2' SubClassOf 'has_chromosomal location' value "9q34.12"^^http://www.w3.org/2001/XMLSchema#string
'exosome component 2' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_295006
OBSOLETE: Preaxial polydactyly of toes
'OBSOLETE: Preaxial polydactyly of toes' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295010
OBSOLETE: Central polydactyly of toes
'OBSOLETE: Central polydactyly of toes' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295008
OBSOLETE: Postaxial polydactyly of toes
'OBSOLETE: Postaxial polydactyly of toes' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_500277
phosphodiesterase 10A
'phosphodiesterase 10A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Childhood-onset benign chorea with striatal involvement'
'phosphodiesterase 10A' SubClassOf 'gene with protein product'
'phosphodiesterase 10A' SubClassOf 'Disease-causing germline mutation(s) in' some 'Infantile-onset generalized dyskinesia with orofacial involvement'
'phosphodiesterase 10A' SubClassOf 'has_chromosomal location' value "6q27"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_512271
canopy FGF signaling regulator 3
'canopy FGF signaling regulator 3' SubClassOf 'gene with protein product'
'canopy FGF signaling regulator 3' SubClassOf 'Disease-causing germline mutation(s) in' some 'West syndrome'
'canopy FGF signaling regulator 3' SubClassOf 'has_chromosomal location' value "6p21.1"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_513418
chromosome X open reading frame 56
'chromosome X open reading frame 56' SubClassOf 'has_chromosomal location' value "Xq24"^^http://www.w3.org/2001/XMLSchema#string
'chromosome X open reading frame 56' SubClassOf 'Disease-causing germline mutation(s) in' some 'X-linked non-syndromic intellectual disability'
'chromosome X open reading frame 56' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_513401
glycoprotein nmb
'glycoprotein nmb' SubClassOf 'gene with protein product'
'glycoprotein nmb' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Amyloidosis cutis dyschromia'
'glycoprotein nmb' SubClassOf 'has_chromosomal location' value "7p15.3"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_3200
Arthrogryposis-ectodermal dysplasia-other anomalies syndrome
'Arthrogryposis-ectodermal dysplasia-other anomalies syndrome' SubClassOf 'part_of' some 'Ectodermal dysplasia syndrome'
'Arthrogryposis-ectodermal dysplasia-other anomalies syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 2.0f)
'Arthrogryposis-ectodermal dysplasia-other anomalies syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
'Arthrogryposis-ectodermal dysplasia-other anomalies syndrome' SubClassOf 'part_of' some 'Distal arthrogryposis'
'Arthrogryposis-ectodermal dysplasia-other anomalies syndrome' SubClassOf 'malformation syndrome'
'Arthrogryposis-ectodermal dysplasia-other anomalies syndrome' SubClassOf 'has_inheritance' some 'unknown inheritance'
'Arthrogryposis-ectodermal dysplasia-other anomalies syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
'Arthrogryposis-ectodermal dysplasia-other anomalies syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
http://www.orpha.net/ORDO/Orphanet_500135
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature'
'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature'
'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'part_of' some 'Syndromic renal or urinary tract malformation'
'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'has_AgeOfOnset' some 'antenatal'
'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'part_of' some 'Lethal multiple congenital anomalies/dysmorphic syndrome'
'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'malformation syndrome'
'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 3.0f)
'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'part_of' some 'Syndromic urogenital tract malformation'
'Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'part_of' some 'Genetic lethal multiple congenital anomalies/dysmorphic syndrome'
http://www.orpha.net/ORDO/Orphanet_500159
Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf 'has_inheritance' some 'autosomal dominant'
'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf 'has_AgeOfOnset' some 'infancy'
'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf 'malformation syndrome'
'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 4.0f)
'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf 'part_of' some 'Syndrome with corpus callosum agenesis /dysgenesis as a major feature'
'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
'Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom' SubClassOf 'has_AgeOfOnset' some 'childhood'
http://www.orpha.net/ORDO/Orphanet_512103
Autosomal recessive epidermolytic ichthyosis
'Autosomal recessive epidermolytic ichthyosis' SubClassOf 'part_of' some 'Keratinopathic ichthyosis'
'Autosomal recessive epidermolytic ichthyosis' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_500150
Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature'
'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature'
'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf 'malformation syndrome'
'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 29.0f)
'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
'Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
http://www.orpha.net/ORDO/Orphanet_500144
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf 'malformation syndrome'
'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf 'part_of' some 'Genetic syndrome with a central nervous system malformation as major feature'
'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 3.0f)
'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness'
'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf 'part_of' some 'Other syndrome with a central nervous system malformation as major feature'
'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
'Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
http://www.orpha.net/ORDO/Orphanet_500163
SIN3A-related intellectual disability syndrome
'SIN3A-related intellectual disability syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'SIN3A-related intellectual disability syndrome' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'SIN3A-related intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'antenatal'
'SIN3A-related intellectual disability syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
'SIN3A-related intellectual disability syndrome' SubClassOf 'malformation syndrome'
'SIN3A-related intellectual disability syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
'SIN3A-related intellectual disability syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
'SIN3A-related intellectual disability syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 15.0f)
http://www.orpha.net/ORDO/Orphanet_500166
SIN3A-related intellectual disability syndrome due to a point mutation
'SIN3A-related intellectual disability syndrome due to a point mutation' SubClassOf 'part_of' some 'SIN3A-related intellectual disability syndrome'
'SIN3A-related intellectual disability syndrome due to a point mutation' SubClassOf 'etiological subtype'
http://www.orpha.net/ORDO/Orphanet_500188
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
'X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 4.0f)
'X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Pinnae and external auditory canal anomaly'
'X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome' SubClassOf 'part_of' some 'Syndromic genetic deafness'
'X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
'X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome' SubClassOf 'malformation syndrome'
'X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome' SubClassOf 'has_inheritance' some 'x-linked recessive'
http://www.orpha.net/ORDO/Orphanet_500180
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to genetic neurodegenerative disease'
'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'part_of' some 'Genetic syndrome with a cerebellar malformation as major feature'
'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'part_of' some 'Miscellaneous movement disorder due to neurodegenerative disease'
'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'part_of' some 'Syndrome with a cerebellar malformation as major feature'
'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'part_of' some 'Multiple congenital anomalies/dysmorphic syndrome-intellectual disability'
'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 7.0f)
'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'has_AgeOfOnset' some 'childhood'
'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'disease'
'Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'has_inheritance' some 'autosomal dominant'
http://www.orpha.net/ORDO/Orphanet_500851
dynein axonemal light chain 4
'dynein axonemal light chain 4' SubClassOf 'has_chromosomal location' value "22q13.1"^^http://www.w3.org/2001/XMLSchema#string
'dynein axonemal light chain 4' SubClassOf 'gene with protein product'
'dynein axonemal light chain 4' SubClassOf 'Disease-causing germline mutation(s) in' some 'Familial congenital mirror movements'
http://www.orpha.net/ORDO/Orphanet_500862
ADAM metallopeptidase with thrombospondin type 1 motif 3
'ADAM metallopeptidase with thrombospondin type 1 motif 3' SubClassOf 'has_chromosomal location' value "4q13.3"^^http://www.w3.org/2001/XMLSchema#string
'ADAM metallopeptidase with thrombospondin type 1 motif 3' SubClassOf 'gene with protein product'
'ADAM metallopeptidase with thrombospondin type 1 motif 3' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Hennekam syndrome'
http://www.orpha.net/ORDO/Orphanet_500722
transmembrane and tetratricopeptide repeat containing 3
'transmembrane and tetratricopeptide repeat containing 3' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Periventricular nodular heterotopia'
'transmembrane and tetratricopeptide repeat containing 3' SubClassOf 'has_chromosomal location' value "12q21.32"^^http://www.w3.org/2001/XMLSchema#string
'transmembrane and tetratricopeptide repeat containing 3' SubClassOf 'gene with protein product'
http://www.orpha.net/ORDO/Orphanet_500726
GLI family zinc finger 1
'GLI family zinc finger 1' SubClassOf 'Disease-causing germline mutation(s) (loss of function) in' some 'Ellis Van Creveld syndrome'
'GLI family zinc finger 1' SubClassOf 'gene with protein product'
'GLI family zinc finger 1' SubClassOf 'has_chromosomal location' value "12q13.3"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_295177
OBSOLETE: Preaxial polydactyly of toes, bilateral
'OBSOLETE: Preaxial polydactyly of toes, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295175
OBSOLETE: Preaxial polydactyly of toes, unilateral
'OBSOLETE: Preaxial polydactyly of toes, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295179
OBSOLETE: Postaxial polydactyly of toes, unilateral
'OBSOLETE: Postaxial polydactyly of toes, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295181
OBSOLETE: Postaxial polydactyly of toes, bilateral
'OBSOLETE: Postaxial polydactyly of toes, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295185
OBSOLETE: Central polydactyly of toes, bilateral
'OBSOLETE: Central polydactyly of toes, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295183
OBSOLETE: Central polydactyly of toes, unilateral
'OBSOLETE: Central polydactyly of toes, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295122
OBSOLETE: Split hand, bilateral
'OBSOLETE: Split hand, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295120
OBSOLETE: Split hand, unilateral
'OBSOLETE: Split hand, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295126
OBSOLETE: Split foot, bilateral
'OBSOLETE: Split foot, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295124
OBSOLETE: Split foot, unilateral
'OBSOLETE: Split foot, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295118
OBSOLETE: Adactyly of foot, bilateral
'OBSOLETE: Adactyly of foot, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295130
OBSOLETE: Brachydactyly of fingers, bilateral
'OBSOLETE: Brachydactyly of fingers, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295134
OBSOLETE: Brachydactyly of toes, bilateral
'OBSOLETE: Brachydactyly of toes, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295132
OBSOLETE: Brachydactyly of toes, unilateral
'OBSOLETE: Brachydactyly of toes, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295138
OBSOLETE: Symbrachydactyly of hand and foot, bilateral
'OBSOLETE: Symbrachydactyly of hand and foot, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295136
OBSOLETE: Symbrachydactyly of hand and foot, unilateral
'OBSOLETE: Symbrachydactyly of hand and foot, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295128
OBSOLETE: Brachydactyly of fingers, unilateral
'OBSOLETE: Brachydactyly of fingers, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295116
OBSOLETE: Adactyly of foot, unilateral
'OBSOLETE: Adactyly of foot, unilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_295114
OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral
'OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_499047
Autoimmune/inflammatory optic neuropathy
'Autoimmune/inflammatory optic neuropathy' SubClassOf 'group of disorders'
'Autoimmune/inflammatory optic neuropathy' SubClassOf 'Rare inflammatory eye disease'
http://www.orpha.net/ORDO/Orphanet_499009
Congenital syphilis
'Congenital syphilis' SubClassOf 'has_AgeOfOnset' some 'neonatal'
'Congenital syphilis' SubClassOf ('present_in' some 'Europe') and ('has_birth_prevalence_range' some '1-9 / 100 000') and ('has_birth_prevalence_average_value' value 2.0f)
'Congenital syphilis' SubClassOf 'has_AgeOfOnset' some 'antenatal'
'Congenital syphilis' SubClassOf 'part_of' some 'Infectious embryofetopathy'
'Congenital syphilis' SubClassOf ('present_in' some 'United States') and ('has_birth_prevalence_range' some '1-5 / 10 000') and ('has_birth_prevalence_average_value' value 15.7f)
'Congenital syphilis' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_499004
Tuberculous meningitis
'Tuberculous meningitis' SubClassOf 'disease'
'Tuberculous meningitis' SubClassOf 'part_of' some 'Infectious disease of the nervous system'
'Tuberculous meningitis' SubClassOf 'part_of' some 'Rare bacterial infectious disease'
http://www.orpha.net/ORDO/Orphanet_99645
Dappled diaphyseal dysplasia
'Dappled diaphyseal dysplasia' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_499096
Isolated optic neuritis
'Isolated optic neuritis' SubClassOf 'disease'
'Isolated optic neuritis' SubClassOf 'part_of' some 'Autoimmune/inflammatory optic neuropathy'
http://www.orpha.net/ORDO/Orphanet_499085
Chronic relapsing inflammatory optic neuropathy
'Chronic relapsing inflammatory optic neuropathy' SubClassOf 'part_of' some 'Autoimmune/inflammatory optic neuropathy'
'Chronic relapsing inflammatory optic neuropathy' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_500509
protein phosphatase 3 catalytic subunit alpha
'protein phosphatase 3 catalytic subunit alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Undetermined early-onset epileptic encephalopathy'
'protein phosphatase 3 catalytic subunit alpha' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability'
'protein phosphatase 3 catalytic subunit alpha' SubClassOf 'gene with protein product'
'protein phosphatase 3 catalytic subunit alpha' SubClassOf 'has_chromosomal location' value "4q24"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_489892
RAB11A, member RAS oncogene family
'RAB11A, member RAS oncogene family' SubClassOf 'Disease-causing germline mutation(s) in' some 'Autosomal dominant non-syndromic intellectual disability'
'RAB11A, member RAS oncogene family' SubClassOf 'gene with protein product'
'RAB11A, member RAS oncogene family' SubClassOf 'has_chromosomal location' value "15q22.31"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_500533
Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome' SubClassOf 'disease'
'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 17.0f)
'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome' SubClassOf 'has_inheritance' some 'autosomal recessive'
'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome' SubClassOf 'has_AgeOfOnset' some 'infancy'
'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome' SubClassOf 'has_AgeOfOnset' some 'neonatal'
'Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome' SubClassOf 'part_of' some 'Monogenic disease with epilepsy'
http://www.orpha.net/ORDO/Orphanet_500523
solute carrier family 25 member 24
'solute carrier family 25 member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Progeroid syndrome, Petty type'
'solute carrier family 25 member 24' SubClassOf 'has_chromosomal location' value "1p13.3"^^http://www.w3.org/2001/XMLSchema#string
'solute carrier family 25 member 24' SubClassOf 'gene with protein product'
'solute carrier family 25 member 24' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gorlin-Chaudhry-Moss syndrome'
http://www.orpha.net/ORDO/Orphanet_500545
Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf 'part_of' some 'Syndromic cataract'
'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf 'part_of' some 'Monogenic disease with epilepsy'
'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf 'disease'
'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf 'part_of' some 'Rare genetic syndromic intellectual disability'
'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf 'part_of' some 'Rare syndromic intellectual disability'
'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf 'has_AgeOfOnset' some 'infancy'
'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf 'part_of' some 'Rare disease with autism'
'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf 'has_AgeOfOnset' some 'neonatal'
'Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 6.0f)
http://www.orpha.net/ORDO/Orphanet_500548
Osteosclerotic metaphyseal dysplasia
'Osteosclerotic metaphyseal dysplasia' SubClassOf 'has_AgeOfOnset' some 'infancy'
'Osteosclerotic metaphyseal dysplasia' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_number' value 7.0f)
'Osteosclerotic metaphyseal dysplasia' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Osteosclerotic metaphyseal dysplasia' SubClassOf 'part_of' some 'Osteopetrosis and related disorders'
'Osteosclerotic metaphyseal dysplasia' SubClassOf 'malformation syndrome'
http://www.orpha.net/ORDO/Orphanet_319719
Autoinflammatory syndrome of childhood
'Autoinflammatory syndrome of childhood' SubClassOf 'Rare pediatric rheumatologic disease'
'Autoinflammatory syndrome of childhood' SubClassOf 'group of disorders'
http://www.orpha.net/ORDO/Orphanet_499107
Optic perineuritis
'Optic perineuritis' SubClassOf 'part_of' some 'Autoimmune/inflammatory optic neuropathy'
'Optic perineuritis' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_499103
Recurrent idiopathic neuroretinitis
'Recurrent idiopathic neuroretinitis' SubClassOf 'part_of' some 'Autoimmune/inflammatory optic neuropathy'
'Recurrent idiopathic neuroretinitis' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_499182
Pilomatrix carcinoma
'Pilomatrix carcinoma' SubClassOf 'part_of' some 'Rare skin tumor or hamartoma'
'Pilomatrix carcinoma' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_95487
Atypical arterial duct
'Atypical arterial duct' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_180284
Benign ductal tumor of breast
'Benign ductal tumor of breast' SubClassOf 'disease'
'Benign ductal tumor of breast' SubClassOf 'part_of' some 'Rare breast tumor'
http://www.orpha.net/ORDO/Orphanet_420549
pancreatic lipase
'pancreatic lipase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Pancreatic colipase deficiency'
'pancreatic lipase' SubClassOf 'gene with protein product'
'pancreatic lipase' SubClassOf 'has_chromosomal location' value "10q25.3"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_2454
Familial intestinal malrotation-facial anomalies syndrome
'Familial intestinal malrotation-facial anomalies syndrome' SubClassOf 'part_of' some 'Syndromic intestinal malformation'
'Familial intestinal malrotation-facial anomalies syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_cases/families_average_value' value 2.0f)
'Familial intestinal malrotation-facial anomalies syndrome' SubClassOf ('present_in' some 'Worldwide') and ('has_point_prevalence_range' some '1 / 1 000 000')
'Familial intestinal malrotation-facial anomalies syndrome' SubClassOf 'malformation syndrome'
'Familial intestinal malrotation-facial anomalies syndrome' SubClassOf 'has_AgeOfOnset' some 'Neonatal'
http://www.orpha.net/ORDO/Orphanet_463
Adrenal incidentaloma
'Adrenal incidentaloma' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_171676
Periventricular leukomalacia
'Periventricular leukomalacia' SubClassOf 'part_of' some 'Rare neurologic disease'
'Periventricular leukomalacia' SubClassOf 'disease'
http://www.orpha.net/ORDO/Orphanet_79142
Familial Dupuytren contracture
'Familial Dupuytren contracture' SubClassOf 'obsolete_class'
http://www.orpha.net/ORDO/Orphanet_457252
Squamous cell carcinoma of the oral tongue
'Squamous cell carcinoma of the oral tongue' SubClassOf 'part_of' some 'Rare head and neck tumor'
'Squamous cell carcinoma of the oral tongue' SubClassOf 'disease'
'Squamous cell carcinoma of the oral tongue' SubClassOf 'has_inheritance' some 'not inherited'
http://www.orpha.net/ORDO/Orphanet_67037
Squamous cell carcinoma of head and neck
'Squamous cell carcinoma of head and neck' SubClassOf ('present_in' some 'Europe') and ('has_point_prevalence_range' some '1-5 / 10 000') and ('has_point_prevalence_average_value' value 49.0f)
'Squamous cell carcinoma of head and neck' SubClassOf 'has_AgeOfOnset' some 'All ages'
'Squamous cell carcinoma of head and neck' SubClassOf 'has_inheritance' some 'multigenic/multifactorial'
'Squamous cell carcinoma of head and neck' SubClassOf 'disease'
'Squamous cell carcinoma of head and neck' SubClassOf 'has_inheritance' some 'not inherited'
'Squamous cell carcinoma of head and neck' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'Worldwide') and ('has_annual_incidence_average_value' value 8.7f)
'Squamous cell carcinoma of head and neck' SubClassOf 'part_of' some 'Rare head and neck tumor'
'Squamous cell carcinoma of head and neck' SubClassOf ('has_annual_incidence_range' some '1-9 / 100 000') and ('present_in' some 'United States') and ('has_annual_incidence_average_value' value 1.7f)
http://www.orpha.net/ORDO/Orphanet_99108
Patent foramen ovale
'Patent foramen ovale' SubClassOf 'morphological anomaly'
'Patent foramen ovale' SubClassOf 'part_of' some 'Atrial defect and interatrial communication'
http://www.orpha.net/ORDO/Orphanet_122086
gamma-glutamyltransferase 1
'gamma-glutamyltransferase 1' SubClassOf 'Disease-causing germline mutation(s) in' some 'Gamma-glutamyl transpeptidase deficiency'
'gamma-glutamyltransferase 1' SubClassOf 'gene with protein product'
'gamma-glutamyltransferase 1' SubClassOf 'has_chromosomal location' value "22q11.23"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_123313
leukotriene C4 synthase
'leukotriene C4 synthase' SubClassOf 'gene with protein product'
'leukotriene C4 synthase' SubClassOf 'Disease-causing germline mutation(s) in' some 'Hypotonia-failure to thrive-microcephaly syndrome'
'leukotriene C4 synthase' SubClassOf 'has_chromosomal location' value "5q35.3"^^http://www.w3.org/2001/XMLSchema#string
http://www.orpha.net/ORDO/Orphanet_98682
Essential strabismus
'Essential strabismus' SubClassOf 'obsolete_class'