1351 100 37 http://www.orpha.net/ORDO/Orphanet_397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome 'Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' SubClassOf 'Mitochondrial disease' http://www.orpha.net/ORDO/Orphanet_309147 Hyper-beta-alaninemia 'Hyper-beta-alaninemia' SubClassOf 'Rare genetic neurological disorder' 'Hyper-beta-alaninemia' SubClassOf 'amino acid or protein metabolism disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_309144 Gangliosidosis 'Gangliosidosis' SubClassOf 'lysosomal disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_324761 Microcephalic primordial dwarfism 'Microcephalic primordial dwarfism' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_94124 Spinocerebellar ataxia type 1 with axonal neuropathy 'Spinocerebellar ataxia type 1 with axonal neuropathy' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Spinocerebellar ataxia type 1 with axonal neuropathy' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' http://www.orpha.net/ORDO/Orphanet_1383 Cataract - deafness - hypogonadism 'Cataract - deafness - hypogonadism' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1381 Cataract - intellectual disability - anal atresia - urinary defects 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'Syndromic developmental defect of the eye' 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'Syndromic developmental defect of the eye' 'Cataract - intellectual disability - anal atresia - urinary defects' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1389 Cortical blindness - intellectual disability - polydactyly 'Cortical blindness - intellectual disability - polydactyly' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1388 Catel-Manzke syndrome 'Catel-Manzke syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Catel-Manzke syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Catel-Manzke syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1394 Cerebro-facio-thoracic dysplasia 'Cerebro-facio-thoracic dysplasia' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies 'myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_179494 Obesity due to leptin receptor gene deficiency 'Obesity due to leptin receptor gene deficiency' SubClassOf 'Obesity due to congenital leptin resistance' 'Obesity due to leptin receptor gene deficiency' SubClassOf 'Obesity due to congenital leptin resistance' http://purl.obolibrary.org/obo/MONDO_0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive 'cone-rod synaptic disorder syndrome, congenital nonprogressive' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_1340 Cardiofaciocutaneous syndrome 'Cardiofaciocutaneous syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1349 Maternally-inherited cardiomyopathy and hearing loss 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'Mitochondrial disease' 'Maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_1355 Heart defect - round face - congenital developmental delay 'Heart defect - round face - congenital developmental delay' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1369 Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_1375 Cataract - hypertrichosis - intellectual disability 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'Syndromic developmental defect of the eye' 'Cataract - hypertrichosis - intellectual disability' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1373 Cataract - aberrant oral frenula - growth delay 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'Syndromic developmental defect of the eye' 'Cataract - aberrant oral frenula - growth delay' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1376 Congenital cataract - ichthyosis 'Congenital cataract - ichthyosis' SubClassOf 'Syndromic developmental defect of the eye' 'Congenital cataract - ichthyosis' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1377 Cataract-microcornea syndrome 'Cataract-microcornea syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Cataract-microcornea syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1300 Autosomal dominant popliteal pterygium syndrome 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Autosomal dominant popliteal pterygium syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1308 C syndrome 'C syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_371188 Congenital disorder of glycosylation with intestinal involvement 'Congenital disorder of glycosylation with intestinal involvement' SubClassOf 'Metabolic disease with intestinal involvement' 'Congenital disorder of glycosylation with intestinal involvement' SubClassOf 'Metabolic disease with intestinal involvement' http://www.orpha.net/ORDO/Orphanet_1319 Camptobrachydactyly 'Camptobrachydactyly' SubClassOf 'Syndrome with brachydactyly' 'Camptobrachydactyly' SubClassOf 'Syndrome with brachydactyly' 'Camptobrachydactyly' SubClassOf 'brachydactyly' http://www.orpha.net/ORDO/Orphanet_35878 Hyperinsulinism-hyperammonemia syndrome 'Hyperinsulinism-hyperammonemia syndrome' SubClassOf 'hyperinsulinemic hypoglycemia' http://www.orpha.net/ORDO/Orphanet_35698 Mitochondrial DNA depletion syndrome 'Mitochondrial DNA depletion syndrome' SubClassOf 'Mitochondrial DNA maintenance syndrome' 'Mitochondrial DNA depletion syndrome' SubClassOf 'Mitochondrial DNA maintenance syndrome' 'Mitochondrial DNA depletion syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' http://www.orpha.net/ORDO/Orphanet_35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' http://www.orpha.net/ORDO/Orphanet_1193 Atkin-Flaitz syndrome 'Atkin-Flaitz syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_69083 Ectodermal dysplasia with natal teeth, Turnpenny type 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_69082 Odonto-tricho-ungual-digito-palmar syndrome 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_1261 Bonnemann-Meinecke-Reich syndrome 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1275 Brachydactyly - elbow wrist dysplasia 'Brachydactyly - elbow wrist dysplasia' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly - elbow wrist dysplasia' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly - elbow wrist dysplasia' SubClassOf 'bone development disease' http://www.orpha.net/ORDO/Orphanet_1272 Fine-Lubinsky syndrome 'Fine-Lubinsky syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1270 Bowen-Conradi syndrome 'Bowen-Conradi syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1277 Brachydactyly - mesomelia - intellectual disability - heart defects 'Brachydactyly - mesomelia - intellectual disability - heart defects' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1278 Brachydactyly - preaxial hallux varus 'Brachydactyly - preaxial hallux varus' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly - preaxial hallux varus' SubClassOf 'congenital limb malformation' 'Brachydactyly - preaxial hallux varus' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_1296 Lambert syndrome 'Lambert syndrome' SubClassOf 'Otomandibular dysplasia associated with monogenic syndromes' 'Lambert syndrome' SubClassOf 'Otomandibular dysplasia associated with monogenic syndromes' http://www.orpha.net/ORDO/Orphanet_1299 Branchio-skeleto-genital syndrome 'Branchio-skeleto-genital syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1228 Banki syndrome 'Banki syndrome' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Banki syndrome' SubClassOf 'Syndrome with synostosis or other joint formation defect' http://www.orpha.net/ORDO/Orphanet_94066 Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia 'Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_94064 Deafness-infertility syndrome 'Deafness-infertility syndrome' SubClassOf 'Male infertility due to sperm motility disorder' 'Deafness-infertility syndrome' SubClassOf 'Male infertility due to sperm motility disorder' http://www.orpha.net/ORDO/Orphanet_1231 Barber-Say syndrome 'Barber-Say syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Barber-Say syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://purl.obolibrary.org/obo/MONDO_0021452 benign neoplasm of cornea 'benign neoplasm of cornea' SubClassOf 'integumentary system benign neoplasm' http://www.orpha.net/ORDO/Orphanet_1248 Maxillonasal dysplasia 'Maxillonasal dysplasia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1253 Ascher syndrome 'Ascher syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ascher syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_1252 Blepharonasofacial malformation syndrome 'Blepharonasofacial malformation syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1258 Blepharoptosis - cleft palate - ectrodactyly - dental anomalies 'Blepharoptosis - cleft palate - ectrodactyly - dental anomalies' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Blepharoptosis - cleft palate - ectrodactyly - dental anomalies' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Blepharoptosis - cleft palate - ectrodactyly - dental anomalies' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_1256 Blepharophimosis - radioulnar synostosis 'Blepharophimosis - radioulnar synostosis' SubClassOf 'Syndromic developmental defect of the eye' 'Blepharophimosis - radioulnar synostosis' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_35706 Glutaric acidemia type 3 'Glutaric acidemia type 3' SubClassOf 'energy metabolism disorder with epilepsy' http://www.orpha.net/ORDO/Orphanet_1200 Choanal atresia-deafness-cardiac defects-dysmorphism syndrome 'Choanal atresia-deafness-cardiac defects-dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation 'Congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_216718 Isolated congenitally uncorrected transposition of the great arteries 'Isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_157965 Ehlers-Danlos syndrome, spondylocheirodysplastic type 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'Ehlers-Danlos syndrome, progeroid type' http://www.orpha.net/ORDO/Orphanet_104007 Congenital enteropathy involving intestinal mucosa development 'Congenital enteropathy involving intestinal mucosa development' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_104006 Congenital intestinal disease due to an enzymatic defect 'Congenital intestinal disease due to an enzymatic defect' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_104003 Congenital intestinal transport defect 'Congenital intestinal transport defect' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_324540 Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability 'Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_300573 Polymicrogyria due to TUBB2B mutation 'Polymicrogyria due to TUBB2B mutation' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' http://www.orpha.net/ORDO/Orphanet_300576 Oligodontia - cancer predisposition syndrome 'Oligodontia - cancer predisposition syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Oligodontia - cancer predisposition syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Oligodontia - cancer predisposition syndrome' SubClassOf 'genetic disorder' 'Oligodontia - cancer predisposition syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_324525 Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_300547 Autosomal recessive infantile hypercalcemia 'Autosomal recessive infantile hypercalcemia' SubClassOf 'hypercalcemia, infantile' 'Autosomal recessive infantile hypercalcemia' SubClassOf 'Inborn errors of metabolism' 'Autosomal recessive infantile hypercalcemia' SubClassOf 'hypercalcemia disease' http://www.orpha.net/ORDO/Orphanet_263487 COG5-CDG 'COG5-CDG' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'COG5-CDG' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0009039 Congenital bile acid synthesis defect 'Congenital bile acid synthesis defect' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' 'Congenital bile acid synthesis defect' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' http://www.orpha.net/ORDO/Orphanet_238459 SLC35A1-CDG 'SLC35A1-CDG' SubClassOf 'metabolic disease with epilepsy' 'SLC35A1-CDG' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_263458 Hyperinsulinism due to INSR deficiency 'Hyperinsulinism due to INSR deficiency' SubClassOf 'hyperinsulinemic hypoglycemia' http://www.orpha.net/ORDO/Orphanet_1598 Monosomy 18p 'Monosomy 18p' SubClassOf 'syndromic disease' 'Monosomy 18p' SubClassOf 'Partial deletion of the short arm of chromosome 18' 'Monosomy 18p' SubClassOf 'Partial deletion of the short arm of chromosome 18' http://www.orpha.net/ORDO/Orphanet_263417 Bartter syndrome with hypocalcemia 'Bartter syndrome with hypocalcemia' SubClassOf 'Syndrome with hypoparathyroidism' 'Bartter syndrome with hypocalcemia' SubClassOf 'Syndrome with hypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_1548 Cryptorchidism - arachnodactyly - intellectual disability 'Cryptorchidism - arachnodactyly - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1553 Curry-Jones syndrome 'Curry-Jones syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' http://purl.obolibrary.org/obo/MONDO_0033352 neuropathy, congenital hypomelinating 'neuropathy, congenital hypomelinating' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1568 X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures 'X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1566 Dandy-Walker malformation - postaxial polydactyly 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Dandy-Walker malformation - postaxial polydactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_1563 Dahlberg-Borer-Newcomer syndrome 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'Syndrome with hypoparathyroidism' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'Syndrome with hypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_33445 Neuroectodermal melanolysosomal disease 'Neuroectodermal melanolysosomal disease' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Neuroectodermal melanolysosomal disease' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Neuroectodermal melanolysosomal disease' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Neuroectodermal melanolysosomal disease' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_1573 Hypotrichosis with juvenile macular degeneration 'Hypotrichosis with juvenile macular degeneration' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_1571 Knobloch syndrome 'Knobloch syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Knobloch syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' SubClassOf 'Mitochondrial disease' 'Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' http://www.orpha.net/ORDO/Orphanet_1514 Craniodigital syndrome - intellectual disability 'Craniodigital syndrome - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1512 Crane-Heise syndrome 'Crane-Heise syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1520 Craniofrontonasal dysplasia 'Craniofrontonasal dysplasia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1529 Craniofacial-deafness-hand syndrome 'Craniofacial-deafness-hand syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1527 Craniosynostosis, Philadelphia type 'Craniosynostosis, Philadelphia type' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Craniosynostosis, Philadelphia type' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_397612 Macrocephaly-developmental delay syndrome 'Macrocephaly-developmental delay syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_251383 CK syndrome 'CK syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'CK syndrome' SubClassOf 'disorder of development or morphogenesis' 'CK syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' http://www.ebi.ac.uk/efo/EFO_0000557 juvenile dermatomyositis 'juvenile dermatomyositis' SubClassOf 'secondary interstitial lung disease specific to childhood associated with a connective tissue disease' 'juvenile dermatomyositis' SubClassOf 'interstitial lung disease' http://www.orpha.net/ORDO/Orphanet_263355 ATR-X-related syndrome 'ATR-X-related syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_251347 Ataxia-telangiectasia-like disorder 'Ataxia-telangiectasia-like disorder' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Ataxia-telangiectasia-like disorder' SubClassOf 'cerebellar degeneration' 'Ataxia-telangiectasia-like disorder' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Ataxia-telangiectasia-like disorder' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Ataxia-telangiectasia-like disorder' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' http://www.orpha.net/ORDO/Orphanet_1465 Coffin-Siris syndrome 'Coffin-Siris syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1473 Uveal coloboma - cleft lip and palate - intellectual disability 'Uveal coloboma - cleft lip and palate - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1475 Renal coloboma syndrome 'Renal coloboma syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Renal coloboma syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1487 Cooks syndrome 'Cooks syndrome' SubClassOf 'Syndrome with brachydactyly' 'Cooks syndrome' SubClassOf 'Syndrome with brachydactyly' 'Cooks syndrome' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_1495 Intellectual disability - hypoplastic corpus callosum - preauricular tag 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Intellectual disability - hypoplastic corpus callosum - preauricular tag' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1493 Vici syndrome 'Vici syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Vici syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1000060 intestinal disaccharide deficiency and disaccharide malabsorption 'intestinal disaccharide deficiency and disaccharide malabsorption' SubClassOf 'Metabolic disease with intestinal involvement' 'intestinal disaccharide deficiency and disaccharide malabsorption' SubClassOf 'Metabolic disease with intestinal involvement' http://www.orpha.net/ORDO/Orphanet_371047 Congenital disorder of glycosylation with neurological involvement 'Congenital disorder of glycosylation with neurological involvement' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_324737 SRD5A3-CDG 'SRD5A3-CDG' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'SRD5A3-CDG' SubClassOf 'Genetic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1437 Ring chromosome 1 'Ring chromosome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700008 http://www.orpha.net/ORDO/Orphanet_1438 Ring chromosome 10 'Ring chromosome 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700017 http://www.orpha.net/ORDO/Orphanet_1440 Ring chromosome 14 'Ring chromosome 14' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700021 http://www.orpha.net/ORDO/Orphanet_1441 Ring chromosome 17 'Ring chromosome 17' SubClassOf 'chromosome 17 abnormality' http://www.orpha.net/ORDO/Orphanet_35981 Polymicrogyria 'Polymicrogyria' SubClassOf 'cerebral malformation due to abnormal neuronal migration' 'Polymicrogyria' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_1448 Ring chromosome 6 'Ring chromosome 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700013 http://www.orpha.net/ORDO/Orphanet_1449 Ring chromosome 7 'Ring chromosome 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700014 http://www.orpha.net/ORDO/Orphanet_1446 Ring chromosome 22 'Ring chromosome 22' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700026 http://www.orpha.net/ORDO/Orphanet_1447 Ring chromosome 4 'Ring chromosome 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700011 http://www.orpha.net/ORDO/Orphanet_1444 Ring chromosome 20 'Ring chromosome 20' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700025 http://www.orpha.net/ORDO/Orphanet_1445 Ring chromosome 21 'Ring chromosome 21' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700124 http://www.orpha.net/ORDO/Orphanet_1442 Ring chromosome 18 'Ring chromosome 18' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700125 http://www.orpha.net/ORDO/Orphanet_1443 Ring chromosome 19 'Ring chromosome 19' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700024 http://www.orpha.net/ORDO/Orphanet_1439 Ring chromosome 12 'Ring chromosome 12' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700019 http://www.orpha.net/ORDO/Orphanet_397695 3q27.3 microdeletion syndrome '3q27.3 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1409 Woolly hair - hypotrichosis - everted lower lip - outstanding ears 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'syndrome with woolly hair' 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'Syndromic hair shaft abnormality' 'Woolly hair - hypotrichosis - everted lower lip - outstanding ears' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_86906 Hypothalamic hamartomas with gelastic seizures 'Hypothalamic hamartomas with gelastic seizures' SubClassOf 'Cerebral malformation with epilepsy' 'Hypothalamic hamartomas with gelastic seizures' SubClassOf 'cerebral malformation' 'Hypothalamic hamartomas with gelastic seizures' SubClassOf 'Cerebral malformation with epilepsy' http://www.orpha.net/ORDO/Orphanet_98902 Amish nemaline myopathy 'Amish nemaline myopathy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_59306 McLeod neuroacanthocytosis syndrome 'McLeod neuroacanthocytosis syndrome' SubClassOf 'metabolic disease with epilepsy' 'McLeod neuroacanthocytosis syndrome' SubClassOf 'Metabolic disease with dementia' http://www.orpha.net/ORDO/Orphanet_98913 Postsynaptic congenital myasthenic syndromes 'Postsynaptic congenital myasthenic syndromes' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_50944 Schöpf-Schulz-Passarge syndrome 'Schöpf-Schulz-Passarge syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Schöpf-Schulz-Passarge syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Schöpf-Schulz-Passarge syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Schöpf-Schulz-Passarge syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_86914 Lymphedema - cerebral arteriovenous anomaly 'Lymphedema - cerebral arteriovenous anomaly' SubClassOf 'complex vascular malformation with associated anomalies' http://www.orpha.net/ORDO/Orphanet_98976 Congenital glaucoma 'Congenital glaucoma' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_96334 Paternal uniparental disomy of chromosome 14 'Paternal uniparental disomy of chromosome 14' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700021 http://www.orpha.net/ORDO/Orphanet_98941 Von Hippel anomaly 'Von Hippel anomaly' SubClassOf 'Syndromic developmental defect of the eye' 'Von Hippel anomaly' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_98948 Congenital symblepharon 'Congenital symblepharon' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0021140 congenital 'congenital' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_238650 Congenital primary megaureter, refluxing form 'Congenital primary megaureter, refluxing form' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_238666 Isolated congenital hypogonadotropic hypogonadism 'Isolated congenital hypogonadotropic hypogonadism' SubClassOf 'has modifier' some 'has an isolated presentation' 'Isolated congenital hypogonadotropic hypogonadism' SubClassOf 'Non-syndromic male infertility due to sperm motility disorder' http://purl.obolibrary.org/obo/MONDO_0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 'intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700120 http://www.orpha.net/ORDO/Orphanet_238646 Congenital primary megaureter, obstructed form 'Congenital primary megaureter, obstructed form' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0060589 facial palsy, congenital, with ptosis and velopharyngeal dysfunction 'facial palsy, congenital, with ptosis and velopharyngeal dysfunction' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_50812 Zellweger-like syndrome without peroxisomal anomalies 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' http://www.orpha.net/ORDO/Orphanet_50810 Microlissencephaly - micromelia 'Microlissencephaly - micromelia' SubClassOf 'Cerebral malformation with epilepsy' 'Microlissencephaly - micromelia' SubClassOf 'Cerebral malformation with epilepsy' 'Microlissencephaly - micromelia' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_141127 Congenital tracheal stenosis 'Congenital tracheal stenosis' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_86818 Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'congenital nervous system disorder' 'Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis' SubClassOf 'congenital anemia' http://www.orpha.net/ORDO/Orphanet_86812 Autosomal recessive limb-girdle muscular dystrophy type 2K 'Autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_86816 Congenital analbuminemia 'Congenital analbuminemia' SubClassOf 'hematologic disease' 'Congenital analbuminemia' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_86817 Hemolytic anemia due to adenylate kinase deficiency 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'Disorder of purine or pyrimidine metabolism' 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' 'Hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' http://www.orpha.net/ORDO/Orphanet_96201 X small rings 'X small rings' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700027 http://www.orpha.net/ORDO/Orphanet_98869 Congenital dyserythropoietic anemia type I 'Congenital dyserythropoietic anemia type I' SubClassOf 'congenital anemia' http://www.orpha.net/ORDO/Orphanet_98870 Congenital dyserythropoietic anemia type III 'Congenital dyserythropoietic anemia type III' SubClassOf 'congenital anemia' http://www.orpha.net/ORDO/Orphanet_98873 Congenital dyserythropoietic anemia type II 'Congenital dyserythropoietic anemia type II' SubClassOf 'congenital anemia' http://www.orpha.net/ORDO/Orphanet_3369 Trigonocephaly - short stature - developmental delay 'Trigonocephaly - short stature - developmental delay' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3375 Trisomy X 'Trisomy X' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700027 http://www.orpha.net/ORDO/Orphanet_3378 Trisomy 13 'Trisomy 13' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700020 http://www.orpha.net/ORDO/Orphanet_3380 Trisomy 18 'Trisomy 18' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700125 http://www.orpha.net/ORDO/Orphanet_3390 Proximal tubulopathy - diabetes mellitus - cerebellar ataxia 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA' 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'syndromic disease' 'Proximal tubulopathy - diabetes mellitus - cerebellar ataxia' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA' http://www.ebi.ac.uk/efo/EFO_0009160 stromme syndrome 'stromme syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'stromme syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'stromme syndrome' SubClassOf 'congenital nervous system disorder' 'stromme syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_3440 Waardenburg syndrome 'Waardenburg syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Waardenburg syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Waardenburg syndrome' SubClassOf 'congenital nervous system disorder' 'Waardenburg syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Waardenburg syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_3449 Weill-Marchesani syndrome 'Weill-Marchesani syndrome' SubClassOf 'Syndrome with brachydactyly' 'Weill-Marchesani syndrome' SubClassOf 'Acromelic dysplasia' 'Weill-Marchesani syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Weill-Marchesani syndrome' SubClassOf 'Lens size anomaly' 'Weill-Marchesani syndrome' SubClassOf 'Syndrome with brachydactyly' 'Weill-Marchesani syndrome' SubClassOf 'Acromelic dysplasia' 'Weill-Marchesani syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Weill-Marchesani syndrome' SubClassOf 'Lens size anomaly' 'Weill-Marchesani syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_3448 Weaver-Williams syndrome 'Weaver-Williams syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3447 Weaver syndrome 'Weaver syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3454 Intellectual disability-developmental delay-contractures syndrome 'Intellectual disability-developmental delay-contractures syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3453 Autoimmune polyendocrinopathy type 1 'Autoimmune polyendocrinopathy type 1' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Autoimmune polyendocrinopathy type 1' SubClassOf 'Immunodeficiency syndrome with autoimmunity' http://purl.obolibrary.org/obo/MONDO_0011629 MOGS-CDG 'MOGS-CDG' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_3455 Wiedemann-Rautenstrauch syndrome 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'congenital nervous system disorder' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_3460 Torg-Winchester syndrome 'Torg-Winchester syndrome' SubClassOf 'Multicentric osteolysis-nodulosis-arthropathy spectrum' 'Torg-Winchester syndrome' SubClassOf 'Multicentric osteolysis-nodulosis-arthropathy spectrum' http://www.orpha.net/ORDO/Orphanet_263508 COG1-CDG 'COG1-CDG' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_3474 CHIME syndrome 'CHIME syndrome' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'CHIME syndrome' SubClassOf 'metabolic disease with epilepsy' 'CHIME syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'CHIME syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_3473 Zimmermann-Laband syndrome 'Zimmermann-Laband syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Zimmermann-Laband syndrome' SubClassOf 'congenital nervous system disorder' 'Zimmermann-Laband syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_263501 COG4-CDG 'COG4-CDG' SubClassOf 'metabolic disease with epilepsy' 'COG4-CDG' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_3404 Ulbright-Hodes syndrome 'Ulbright-Hodes syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3412 VACTERL with hydrocephalus 'VACTERL with hydrocephalus' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3409 Urban-Rogers-Meyer syndrome 'Urban-Rogers-Meyer syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0021005 faciodigitogenital syndrome 'faciodigitogenital syndrome' SubClassOf 'Genetic malformation syndrome with short stature' http://www.orpha.net/ORDO/Orphanet_96263 48,XXXY syndrome '48,XXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700027 http://www.orpha.net/ORDO/Orphanet_96264 49,XXXXY syndrome '49,XXXXY syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700027 http://www.orpha.net/ORDO/Orphanet_3434 MMEP syndrome 'MMEP syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3433 Microcephaly - brachydactyly - kyphoscoliosis 'Microcephaly - brachydactyly - kyphoscoliosis' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0060627 glycosylphosphatidylinositol biosynthesis defect 15 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_180766 Malformative syndrome with dentinogenesis imperfecta 'Malformative syndrome with dentinogenesis imperfecta' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Malformative syndrome with dentinogenesis imperfecta' SubClassOf 'developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_238536 Congenital secondary polycythemia 'Congenital secondary polycythemia' SubClassOf 'congenital hematological disorder' http://purl.obolibrary.org/obo/MONDO_0060663 congenital heart defects, multiple types, 5 'congenital heart defects, multiple types, 5' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_141152 Isolated congenital hypoglossia/aglossia 'Isolated congenital hypoglossia/aglossia' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_238510 Lymphoproliferative syndrome 'Lymphoproliferative syndrome' SubClassOf 'Immune dysregulation disease with immunodeficiency' 'Lymphoproliferative syndrome' SubClassOf 'primary immunodeficiency disease' 'Lymphoproliferative syndrome' SubClassOf 'Immune dysregulation disease with immunodeficiency' http://www.orpha.net/ORDO/Orphanet_397951 Microcephaly-thin corpus callosum-intellectual disability syndrome 'Microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_397941 MAN1B1-CDG 'MAN1B1-CDG' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.ebi.ac.uk/efo/EFO_0009441 Waldenstrom macroglobulinemia 'Waldenstrom macroglobulinemia' SubClassOf 'hematological disease associated with an acquired peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome 'Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1064 Aniridia - renal agenesis - psychomotor retardation 'Aniridia - renal agenesis - psychomotor retardation' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1062 Hereditary neurocutaneous angioma 'Hereditary neurocutaneous angioma' SubClassOf 'brain neoplasm' 'Hereditary neurocutaneous angioma' SubClassOf 'Cerebral diseases of vascular origin with epilepsy' 'Hereditary neurocutaneous angioma' SubClassOf 'nervous system neoplasm' 'Hereditary neurocutaneous angioma' SubClassOf 'Cerebral diseases of vascular origin with epilepsy' http://www.orpha.net/ORDO/Orphanet_1078 Thumb stiffness - brachydactyly - intellectual disability 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf 'Syndrome with brachydactyly' 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf 'Syndrome with brachydactyly' 'Thumb stiffness - brachydactyly - intellectual disability' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_1074 Ankyloblepharon filiforme - imperforate anus 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'Syndromic developmental defect of the eye' 'Ankyloblepharon filiforme - imperforate anus' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1071 Ankyloblepharon - ectodermal defects - cleft lip/palate 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Syndromic developmental defect of the eye' 'Ankyloblepharon - ectodermal defects - cleft lip/palate' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1072 Ankyloblepharon filiforme adnatum - cleft palate 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'Syndromic developmental defect of the eye' 'Ankyloblepharon filiforme adnatum - cleft palate' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1144 Arthrogryposis-like hand anomaly - sensorineural deafness 'Arthrogryposis-like hand anomaly - sensorineural deafness' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1145 X-linked distal arthrogryposis multiplex congenita 'X-linked distal arthrogryposis multiplex congenita' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1106 Microphthalmia with limb anomalies 'Microphthalmia with limb anomalies' SubClassOf 'Syndromic developmental defect of the eye' 'Microphthalmia with limb anomalies' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1110 Aortic arch anomaly - peculiar facies - intellectual disability 'Aortic arch anomaly - peculiar facies - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1116 Aplasia cutis congenita - intestinal lymphangiectasia 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Aplasia cutis congenita - intestinal lymphangiectasia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_1117 Aplasia cutis - myopia 'Aplasia cutis - myopia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Aplasia cutis - myopia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_1113 Aphalangy - syndactyly - microcephaly 'Aphalangy - syndactyly - microcephaly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Aphalangy - syndactyly - microcephaly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_1129 Arachnodactyly - abnormal ossification - intellectual disability 'Arachnodactyly - abnormal ossification - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1123 Caudal appendage - deafness 'Caudal appendage - deafness' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1131 X-linked mandibulofacial dysostosis 'X-linked mandibulofacial dysostosis' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 'neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_35656 Coenzyme Q10 deficiency 'Coenzyme Q10 deficiency' SubClassOf 'mitochondrial disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_141333 Biemond syndrome type 2 'Biemond syndrome type 2' SubClassOf 'Genetic malformation syndrome with short stature' 'Biemond syndrome type 2' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0600026 aortic vascular smooth muscle cell proliferation measurement 'aortic vascular smooth muscle cell proliferation measurement' SubClassOf 'cardiovascular measurement' 'aortic vascular smooth muscle cell proliferation measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0020865 http://www.ebi.ac.uk/efo/EFO_0600025 aortic vascular smooth muscle cell calcification measurement 'aortic vascular smooth muscle cell calcification measurement' SubClassOf 'cardiovascular measurement' 'aortic vascular smooth muscle cell calcification measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0020865 http://www.orpha.net/ORDO/Orphanet_263768 Partial duplication of chromosome X 'Partial duplication of chromosome X' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700027 http://www.ebi.ac.uk/efo/EFO_0010291 cerebellum cortex volume measurement 'cerebellum cortex volume measurement' SubClassOf 'brain volume measurement' 'cerebellum cortex volume measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0020864 http://www.orpha.net/ORDO/Orphanet_1051 Ramos-Arroyo syndrome 'Ramos-Arroyo syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1052 Mosaic variegated aneuploidy syndrome 'Mosaic variegated aneuploidy syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Mosaic variegated aneuploidy syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Mosaic variegated aneuploidy syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_238722 Familial congenital mirror movements 'Familial congenital mirror movements' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_263726 Partial deletion of chromosome X 'Partial deletion of chromosome X' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700027 http://www.orpha.net/ORDO/Orphanet_238766 Ptosis - syndactyly - learning difficulties 'Ptosis - syndactyly - learning difficulties' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_79373 Ectodermal dysplasia syndrome 'Ectodermal dysplasia syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ectodermal dysplasia syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://purl.obolibrary.org/obo/MONDO_0018727 immunodeficiency due to a complement regulatory deficiency 'immunodeficiency due to a complement regulatory deficiency' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' http://www.orpha.net/ORDO/Orphanet_280633 Multiple congenital anomalies - hypotonia - seizures syndrome 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Multiple congenital anomalies - hypotonia - seizures syndrome' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_280640 Occipital pachygyria and polymicrogyria 'Occipital pachygyria and polymicrogyria' SubClassOf 'cerebral malformation due to abnormal neuronal migration' 'Occipital pachygyria and polymicrogyria' SubClassOf 'cerebral malformation' http://www.orpha.net/ORDO/Orphanet_79395 Keratoderma hereditarium mutilans with ichthyosis 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'Inherited non-syndromic ichthyosis' 'Keratoderma hereditarium mutilans with ichthyosis' SubClassOf 'Inherited non-syndromic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0016104 infectious disease with peripheral neuropathy 'infectious disease with peripheral neuropathy' SubClassOf 'infectious disease of the nervous system' http://purl.obolibrary.org/obo/MONDO_0018760 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome 'WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_84 Fanconi anemia 'Fanconi anemia' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Fanconi anemia' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Fanconi anemia' SubClassOf 'congenital anemia' http://purl.obolibrary.org/obo/MONDO_0018771 congenital anomaly of ventricular septum 'congenital anomaly of ventricular septum' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0018789 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy 'COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy' SubClassOf 'COL4A1 or COL4A2-related cerebral small vessel disease' http://purl.obolibrary.org/obo/MONDO_0018786 pontine autosomal dominant microangiopathy with leukoencephalopathy 'pontine autosomal dominant microangiopathy with leukoencephalopathy' SubClassOf 'COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy' 'pontine autosomal dominant microangiopathy with leukoencephalopathy' SubClassOf 'cerebral small vessel disease' http://www.orpha.net/ORDO/Orphanet_50 Aicardi syndrome 'Aicardi syndrome' SubClassOf 'Cerebral malformation with epilepsy' 'Aicardi syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Aicardi syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Aicardi syndrome' SubClassOf 'disorder of development or morphogenesis' 'Aicardi syndrome' SubClassOf 'Cerebral malformation with epilepsy' 'Aicardi syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome 'Aicardi-Goutières syndrome' SubClassOf 'Immune dysregulation disease with immunodeficiency' http://www.orpha.net/ORDO/Orphanet_52 Alagille syndrome 'Alagille syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Alagille syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Alagille syndrome' SubClassOf 'eye disease' 'Alagille syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Alagille syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_314597 Chudley-McCullough syndrome 'Chudley-McCullough syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Chudley-McCullough syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' http://www.orpha.net/ORDO/Orphanet_65 Leber congenital amaurosis 'Leber congenital amaurosis' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_36 Acrocallosal syndrome 'Acrocallosal syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Acrocallosal syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Acrocallosal syndrome' SubClassOf 'congenital nervous system disorder' 'Acrocallosal syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_32 Glutathione synthetase deficiency 'Glutathione synthetase deficiency' SubClassOf 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' 'Glutathione synthetase deficiency' SubClassOf 'familial hemolytic anemia' 'Glutathione synthetase deficiency' SubClassOf 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' http://www.orpha.net/ORDO/Orphanet_314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 'Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_46 Adenylosuccinate lyase deficiency 'Adenylosuccinate lyase deficiency' SubClassOf 'Cerebral organic aciduria' 'Adenylosuccinate lyase deficiency' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Adenylosuccinate lyase deficiency' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_48 Congenital bilateral absence of vas deferens 'Congenital bilateral absence of vas deferens' SubClassOf 'has modifier' some 'congenital' 'Congenital bilateral absence of vas deferens' SubClassOf 'Non-syndromic male infertility due to sperm motility disorder' http://www.orpha.net/ORDO/Orphanet_43 X-linked adrenoleukodystrophy 'X-linked adrenoleukodystrophy' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'X-linked adrenoleukodystrophy' SubClassOf 'peroxisomal disease with epilepsy' 'X-linked adrenoleukodystrophy' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'X-linked adrenoleukodystrophy' SubClassOf 'adrenal gland disease' http://www.orpha.net/ORDO/Orphanet_14 Abetalipoproteinemia 'Abetalipoproteinemia' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Abetalipoproteinemia' SubClassOf 'Metabolic disease with pigmentary retinitis' http://www.orpha.net/ORDO/Orphanet_19 2-hydroxyglutaric aciduria '2-hydroxyglutaric aciduria' SubClassOf 'amino acid or protein metabolism disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_11 Pentasomy X 'Pentasomy X' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700027 http://purl.obolibrary.org/obo/MONDO_0016180 hematological disease associated with an acquired peripheral neuropathy 'hematological disease associated with an acquired peripheral neuropathy' SubClassOf 'hematologic disease' 'hematological disease associated with an acquired peripheral neuropathy' SubClassOf 'disease has major feature' some 'acquired peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_24 Fumaric aciduria 'Fumaric aciduria' SubClassOf 'mitochondrial disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_169150 Immunodeficiency due to a late component of complements deficiency 'Immunodeficiency due to a late component of complements deficiency' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' http://purl.obolibrary.org/obo/MONDO_0016177 systemic inflammatory disease associated with an acquired peripheral neuropathy 'systemic inflammatory disease associated with an acquired peripheral neuropathy' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0016178 peripheral neuropathy associated with monoclonal gammopathy 'peripheral neuropathy associated with monoclonal gammopathy' SubClassOf 'acquired peripheral neuropathy' 'peripheral neuropathy associated with monoclonal gammopathy' SubClassOf 'disease has feature' some 'monoclonal gammopathy' http://www.orpha.net/ORDO/Orphanet_280558 Warsaw breakage syndrome 'Warsaw breakage syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Warsaw breakage syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' http://www.orpha.net/ORDO/Orphanet_363611 Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 'Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_363623 Autosomal recessive limb-girdle muscular dystrophy type 2T 'Autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018619 hyperinsulinemic hypoglycaemia 'hyperinsulinemic hypoglycaemia' SubClassOf 'has modifier' some 'rare' 'hyperinsulinemic hypoglycaemia' SubClassOf 'genetic disorder' 'hyperinsulinemic hypoglycaemia' SubClassOf 'endocrine system disease' http://www.orpha.net/ORDO/Orphanet_169095 Alymphoid cystic thymic dysgenesis 'Alymphoid cystic thymic dysgenesis' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_79299 Hyperinsulinism due to glucokinase deficiency 'Hyperinsulinism due to glucokinase deficiency' SubClassOf 'hyperinsulinemic hypoglycemia' http://www.orpha.net/ORDO/Orphanet_169090 Combined immunodeficiency due to CRAC channel dysfunction 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'syndrome with combined immunodeficiency' 'Combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' http://www.orpha.net/ORDO/Orphanet_79282 Methylmalonic acidemia with homocystinuria, type cblC 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Methylmalonic acidemia with homocystinuria, type cblC' SubClassOf 'Metabolic disease with pigmentary retinitis' http://www.orpha.net/ORDO/Orphanet_169079 Cernunnos-XLF deficiency 'Cernunnos-XLF deficiency' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Cernunnos-XLF deficiency' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://purl.obolibrary.org/obo/MONDO_0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018683 acquired ichthyosis 'acquired ichthyosis' SubClassOf 'ichthyosis vulgaris' 'acquired ichthyosis' SubClassOf 'ichthyosis' http://www.orpha.net/ORDO/Orphanet_314679 Cerebro-facio-articular syndrome 'Cerebro-facio-articular syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_169100 Immunodeficiency due to CD25 deficiency 'Immunodeficiency due to CD25 deficiency' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Immunodeficiency due to CD25 deficiency' SubClassOf 'immunodeficiency disease' 'Immunodeficiency due to CD25 deficiency' SubClassOf 'Immunodeficiency syndrome with autoimmunity' http://www.orpha.net/ORDO/Orphanet_206559 Autosomal recessive limb-girdle muscular dystrophy type 2N 'Autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_93 Aspartylglucosaminuria 'Aspartylglucosaminuria' SubClassOf 'lysosomal disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_96 Ataxia with vitamin E deficiency 'Ataxia with vitamin E deficiency' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Ataxia with vitamin E deficiency' SubClassOf 'Metabolic disease with pigmentary retinitis' http://www.orpha.net/ORDO/Orphanet_79303 Congenital bile acid synthesis defect type 2 'Congenital bile acid synthesis defect type 2' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_79302 Congenital bile acid synthesis defect type 3 'Congenital bile acid synthesis defect type 3' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 'Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_79333 COG7-CDG 'COG7-CDG' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_79327 ALG1-CDG 'ALG1-CDG' SubClassOf 'metabolic disease with epilepsy' 'ALG1-CDG' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_79326 ALG2-CDG 'ALG2-CDG' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'ALG2-CDG' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_79329 MGAT2-CDG 'MGAT2-CDG' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_79328 ALG9-CDG 'ALG9-CDG' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_79323 MPDU1-CDG 'MPDU1-CDG' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'MPDU1-CDG' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_79322 DPM1-CDG 'DPM1-CDG' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_79325 ALG8-CDG 'ALG8-CDG' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_79321 ALG3-CDG 'ALG3-CDG' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'ALG3-CDG' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_79318 PMM2-CDG 'PMM2-CDG' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'PMM2-CDG' SubClassOf 'metabolic disease with epilepsy' http://purl.obolibrary.org/obo/MONDO_0018580 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_169464 Primary CD59 deficiency 'Primary CD59 deficiency' SubClassOf 'immunodeficiency due to a complement regulatory deficiency' http://www.orpha.net/ORDO/Orphanet_169467 Recurrent Neisseria infections due to factor D deficiency 'Recurrent Neisseria infections due to factor D deficiency' SubClassOf 'immunodeficiency due to a complement regulatory deficiency' 'Recurrent Neisseria infections due to factor D deficiency' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' 'Recurrent Neisseria infections due to factor D deficiency' SubClassOf 'complement deficiency' http://www.ebi.ac.uk/efo/EFO_0002339 SKO007 'SKO007' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002322 RPMI8226 'RPMI8226' SubClassOf 'cancer cell line' http://www.orpha.net/ORDO/Orphanet_79495 X-linked congenital generalized hypertrichosis 'X-linked congenital generalized hypertrichosis' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_169349 Immuno-osseous dysplasia 'Immuno-osseous dysplasia' SubClassOf 'syndrome with combined immunodeficiency' 'Immuno-osseous dysplasia' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' http://purl.obolibrary.org/obo/MONDO_0043452 chromosome 8, trisomy 'chromosome 8, trisomy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700015 http://www.orpha.net/ORDO/Orphanet_169355 Immunodeficiency syndrome with autoimmunity 'Immunodeficiency syndrome with autoimmunity' SubClassOf 'Immune dysregulation disease with immunodeficiency' 'Immunodeficiency syndrome with autoimmunity' SubClassOf 'primary immunodeficiency disease' 'Immunodeficiency syndrome with autoimmunity' SubClassOf 'Immune dysregulation disease with immunodeficiency' http://www.ebi.ac.uk/efo/EFO_0002207 HuNS1 'HuNS1' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0002229 MCCAR 'MCCAR' SubClassOf 'cancer cell line' http://www.orpha.net/ORDO/Orphanet_363417 Temtamy preaxial brachydactyly syndrome 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Temtamy preaxial brachydactyly syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_289483 Intellectual disability - alacrima - achalasia 'Intellectual disability - alacrima - achalasia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1711 Mosaic trisomy 17 'Mosaic trisomy 17' SubClassOf 'chromosome 17 abnormality' http://www.orpha.net/ORDO/Orphanet_1705 Distal trisomy 14q 'Distal trisomy 14q' SubClassOf 'Syndromic developmental defect of the eye' 'Distal trisomy 14q' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1706 Mosaic trisomy 15 'Mosaic trisomy 15' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700022 http://www.orpha.net/ORDO/Orphanet_1703 Mosaic trisomy 14 'Mosaic trisomy 14' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700021 http://www.orpha.net/ORDO/Orphanet_1723 Mosaic trisomy 2 'Mosaic trisomy 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700009 http://www.orpha.net/ORDO/Orphanet_314993 Cataract-congenital heart disease-neural tube defect syndrome 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf 'disorder of development or morphogenesis' 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Cataract-congenital heart disease-neural tube defect syndrome' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_300359 PLCG2-associated antibody deficiency and immune dysregulation 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'mixed autoinflammatory and autoimmune syndrome' 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'autoinflammatory syndrome' http://www.orpha.net/ORDO/Orphanet_363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Noonan syndrome-like disorder with juvenile myelomonocytic leukemia' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ichthyosis-short stature-brachydactyly-microspherophakia syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_289465 Isolated adermatoglyphia 'Isolated adermatoglyphia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Isolated adermatoglyphia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency 'Immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf 'Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells' 'Immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf 'immunodeficiency disease' 'Immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf 'Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells' http://www.orpha.net/ORDO/Orphanet_300313 Congenital cataract-hearing loss-severe developmental delay syndrome 'Congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1000641 congenital nonspherocytic hemolytic anemia 'congenital nonspherocytic hemolytic anemia' SubClassOf 'congenital anemia' http://www.ebi.ac.uk/efo/EFO_1000644 newborn respiratory distress syndrome 'newborn respiratory distress syndrome' SubClassOf 'primary interstitial lung disease specific to childhood due to alveolar structure disorder' 'newborn respiratory distress syndrome' SubClassOf 'primary interstitial lung disease specific to childhood' http://purl.obolibrary.org/obo/MONDO_0033967 immune dysregulation with inflammatory bowel disease 'immune dysregulation with inflammatory bowel disease' SubClassOf 'Immune dysregulation disease with immunodeficiency' 'immune dysregulation with inflammatory bowel disease' SubClassOf 'disease has feature' some 'inflammatory bowel disease' 'immune dysregulation with inflammatory bowel disease' EquivalentTo 'Immune dysregulation disease with immunodeficiency' and ('disease has feature' some 'inflammatory bowel disease') http://www.orpha.net/ORDO/Orphanet_324353 Congenital achiasma 'Congenital achiasma' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1000692 epidermolysis bullosa dystrophica 'epidermolysis bullosa dystrophica' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_228426 Syndromic multisystem autoimmune disease due to Itch deficiency 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Syndromic multisystem autoimmune disease due to Itch deficiency' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_228429 Generalized congenital lipodystrophy with myopathy 'Generalized congenital lipodystrophy with myopathy' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_228418 Microcephaly - seizures - developmental delay 'Microcephaly - seizures - developmental delay' SubClassOf 'Monogenic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_1788 Acrofacial dysostosis, Rodríguez type 'Acrofacial dysostosis, Rodríguez type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1786 Acrofacial dysostosis, Catania type 'Acrofacial dysostosis, Catania type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1791 Frontofacionasal dysplasia 'Frontofacionasal dysplasia' SubClassOf 'Syndromic developmental defect of the eye' 'Frontofacionasal dysplasia' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1756 Caudal duplication 'Caudal duplication' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' http://www.orpha.net/ORDO/Orphanet_1757 Fibular dimelia - diplopodia 'Fibular dimelia - diplopodia' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Fibular dimelia - diplopodia' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Fibular dimelia - diplopodia' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_1747 Mosaic trisomy 7 'Mosaic trisomy 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700014 http://www.orpha.net/ORDO/Orphanet_1768 Familial caudal dysgenesis 'Familial caudal dysgenesis' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Familial caudal dysgenesis' SubClassOf 'congenital nervous system disorder' 'Familial caudal dysgenesis' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' http://www.orpha.net/ORDO/Orphanet_1764 Familial dysautonomia 'Familial dysautonomia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1770 Gonadal dysgenesis, XY type - associated anomalies 'Gonadal dysgenesis, XY type - associated anomalies' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Gonadal dysgenesis, XY type - associated anomalies' SubClassOf 'Syndrome with 46,XY disorder of sex development' 'Gonadal dysgenesis, XY type - associated anomalies' SubClassOf 'Genetic 46,XY disorder of sex development' http://www.orpha.net/ORDO/Orphanet_1778 Facial dysmorphism - shawl scrotum - joint laxity 'Facial dysmorphism - shawl scrotum - joint laxity' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1777 Temtamy syndrome 'Temtamy syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Temtamy syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1772 45,X/46,XY mixed gonadal dysgenesis '45,X/46,XY mixed gonadal dysgenesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700028 http://www.orpha.net/ORDO/Orphanet_300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 'Multiple congenital anomalies-hypotonia-seizures syndrome type 2' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_324422 ALG13-CDG 'ALG13-CDG' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 'Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_228384 5q14.3 microdeletion syndrome '5q14.3 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1000784 microscopic polyangiitis 'microscopic polyangiitis' SubClassOf 'systemic inflammatory disease associated with an acquired peripheral neuropathy' http://purl.obolibrary.org/obo/HP_0000399 Prelingual sensorineural hearing impairment 'Prelingual sensorineural hearing impairment' SubClassOf 'Sensorineural hearing impairment' 'Prelingual sensorineural hearing impairment' SubClassOf http://purl.obolibrary.org/obo/HP_0011474 http://www.orpha.net/ORDO/Orphanet_206973 Congenital myotonia 'Congenital myotonia' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_1660 Dermo-odonto dysplasia 'Dermo-odonto dysplasia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Dermo-odonto dysplasia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_1662 Lethal restrictive dermopathy 'Lethal restrictive dermopathy' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Lethal restrictive dermopathy' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_1692 Mosaic trisomy 1 'Mosaic trisomy 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700008 http://www.orpha.net/ORDO/Orphanet_1698 Mosaic trisomy 12 'Mosaic trisomy 12' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700019 http://www.orpha.net/ORDO/Orphanet_33574 Gamma-glutamylcysteine synthetase deficiency 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'inherited glutathione metabolism disease' 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'familial hemolytic anemia' 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'inherited glutathione metabolism disease' 'Gamma-glutamylcysteine synthetase deficiency' SubClassOf 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' http://www.orpha.net/ORDO/Orphanet_1646 Partial chromosome Y deletion 'Partial chromosome Y deletion' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700028 http://www.orpha.net/ORDO/Orphanet_1647 Oculocerebrocutaneous syndrome 'Oculocerebrocutaneous syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Oculocerebrocutaneous syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Oculocerebrocutaneous syndrome' SubClassOf 'Epilepsy syndrome' 'Oculocerebrocutaneous syndrome' SubClassOf 'Epilepsy syndrome' 'Oculocerebrocutaneous syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_1658 Absence of fingerprints - congenital milia 'Absence of fingerprints - congenital milia' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_1654 Natal teeth - intestinal pseudoobstruction - patent ductus 'Natal teeth - intestinal pseudoobstruction - patent ductus' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Natal teeth - intestinal pseudoobstruction - patent ductus' SubClassOf 'disorder of development or morphogenesis' 'Natal teeth - intestinal pseudoobstruction - patent ductus' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_79143 Congenital anonychia 'Congenital anonychia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Congenital anonychia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_79144 Congenital onychodysplasia 'Congenital onychodysplasia' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_1951 Epilepsy telangiectasia 'Epilepsy telangiectasia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1948 Epilepsy - microcephaly - skeletal dysplasia 'Epilepsy - microcephaly - skeletal dysplasia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1945 Rolandic epilepsy 'Rolandic epilepsy' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_1946 Amelo-cerebro-hypohidrotic syndrome 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Amelo-cerebro-hypohidrotic syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://purl.obolibrary.org/obo/HP_0000690 Agenesis of maxillary lateral incisor 'Agenesis of maxillary lateral incisor' SubClassOf 'Abnormality of the dentition' 'Agenesis of maxillary lateral incisor' SubClassOf http://purl.obolibrary.org/obo/HP_0009804 http://www.orpha.net/ORDO/Orphanet_79129 Trichodysplasia - amelogenesis imperfecta 'Trichodysplasia - amelogenesis imperfecta' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Trichodysplasia - amelogenesis imperfecta' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_1974 Autosomal recessive facio-digito-genital syndrome 'Autosomal recessive facio-digito-genital syndrome' SubClassOf 'Genetic malformation syndrome with short stature' http://www.orpha.net/ORDO/Orphanet_1970 Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation 'Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_79113 Mandibulofacial dysostosis-microcephaly syndrome 'Mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1900 Ehlers-Danlos syndrome, kyphoscoliotic type 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, kyphoscoliotic type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0034024 http://www.orpha.net/ORDO/Orphanet_79157 2-methylbutyryl-CoA dehydrogenase deficiency '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'amino acid or protein metabolism disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_79153 Autosomal dominant nail dysplasia 'Autosomal dominant nail dysplasia' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_251004 Paternal uniparental disomy of chromosome 1 'Paternal uniparental disomy of chromosome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700008 http://www.orpha.net/ORDO/Orphanet_251009 Maternal uniparental disomy of chromosome 1 'Maternal uniparental disomy of chromosome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700008 http://purl.obolibrary.org/obo/MONDO_0008771 amelogenesis imperfecta type 1G 'amelogenesis imperfecta type 1G' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'amelogenesis imperfecta type 1G' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_300179 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0034024 http://purl.obolibrary.org/obo/HP_0010049 Short metacarpal 'Short metacarpal' SubClassOf 'Short long bone' http://www.orpha.net/ORDO/Orphanet_251043 Ring chromosome 5 'Ring chromosome 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700012 http://www.ebi.ac.uk/efo/EFO_0000224 acute promyelocytic leukemia 'acute promyelocytic leukemia' SubClassOf 'acute myeloid leukemia with recurrent genetic anomaly' 'acute promyelocytic leukemia' SubClassOf 'acute myeloid leukemia' 'acute promyelocytic leukemia' SubClassOf 'Inherited acute myeloid leukemia' http://www.orpha.net/ORDO/Orphanet_1980 Bilateral striopallidodentate calcinosis 'Bilateral striopallidodentate calcinosis' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' 'Bilateral striopallidodentate calcinosis' SubClassOf 'Miscellaneous movement disorder due to genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_169826 Congenital vitamin K-dependent coagulation factors deficiency 'Congenital vitamin K-dependent coagulation factors deficiency' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_1986 Gollop-Wolfgang complex 'Gollop-Wolfgang complex' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Gollop-Wolfgang complex' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Gollop-Wolfgang complex' SubClassOf 'Dysostosis of genetic origin' http://www.orpha.net/ORDO/Orphanet_1997 Blepharo-cheilo-odontic syndrome 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Blepharo-cheilo-odontic syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_1995 Cleft lip - retinopathy 'Cleft lip - retinopathy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_79219 Metabolic disease involving other neurotransmitter deficiency 'Metabolic disease involving other neurotransmitter deficiency' SubClassOf 'metabolic disease with epilepsy' 'Metabolic disease involving other neurotransmitter deficiency' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_157850 Pantothenate kinase-associated neurodegeneration 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Pantothenate kinase-associated neurodegeneration' SubClassOf 'Metabolic disease with pigmentary retinitis' http://www.orpha.net/ORDO/Orphanet_1818 Ectodermal dysplasia, trichoodontoonychial type 'Ectodermal dysplasia, trichoodontoonychial type' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Ectodermal dysplasia, trichoodontoonychial type' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_1830 Schimke immuno-osseous dysplasia 'Schimke immuno-osseous dysplasia' SubClassOf 'Malformative syndrome with dentinogenesis imperfecta' 'Schimke immuno-osseous dysplasia' SubClassOf 'Malformative syndrome with dentinogenesis imperfecta' http://www.orpha.net/ORDO/Orphanet_1825 Epiphyseal dysplasia - hearing loss - dysmorphism 'Epiphyseal dysplasia - hearing loss - dysmorphism' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1839 Hereditary mucoepithelial dysplasia 'Hereditary mucoepithelial dysplasia' SubClassOf 'Genetic immune deficiency with skin involvement' 'Hereditary mucoepithelial dysplasia' SubClassOf 'skin disease' 'Hereditary mucoepithelial dysplasia' SubClassOf 'Genetic immune deficiency with skin involvement' http://www.orpha.net/ORDO/Orphanet_399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' SubClassOf 'Male infertility with spermatogenesis disorder due to single gene mutation' 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' SubClassOf 'Male infertility with spermatogenesis disorder due to single gene mutation' 'Male infertility with azoospermia or oligozoospermia due to single gene mutation' SubClassOf 'male infertility' http://www.orpha.net/ORDO/Orphanet_399808 Male infertility with teratozoospermia due to single gene mutation 'Male infertility with teratozoospermia due to single gene mutation' SubClassOf 'Male infertility with spermatogenesis disorder due to single gene mutation' 'Male infertility with teratozoospermia due to single gene mutation' SubClassOf 'Male infertility with spermatogenesis disorder due to single gene mutation' 'Male infertility with teratozoospermia due to single gene mutation' SubClassOf 'male infertility' http://www.orpha.net/ORDO/Orphanet_1811 Odontomicronychial dysplasia 'Odontomicronychial dysplasia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_289527 Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'hypertrophic cardiomyopathy' 'Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_79095 Congenital bile acid synthesis defect type 4 'Congenital bile acid synthesis defect type 4' SubClassOf 'Cerebral organic aciduria' 'Congenital bile acid synthesis defect type 4' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_79096 Pyridoxal phosphate-responsive seizures 'Pyridoxal phosphate-responsive seizures' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_300298 Severe congenital hypochromic anemia with ringed sideroblasts 'Severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'congenital anemia' http://purl.obolibrary.org/obo/MONDO_0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'congenital hematological disorder' http://purl.obolibrary.org/obo/MONDO_0043007 genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism 'Rare female infertility due to a congenital hypogonadotropic hypogonadism' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_79107 Developmental malformations - deafness - dystonia 'Developmental malformations - deafness - dystonia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1858 Skeletal dysplasia - epilepsy - short stature 'Skeletal dysplasia - epilepsy - short stature' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_79101 Hyperprolinemia type 2 'Hyperprolinemia type 2' SubClassOf 'amino acid or protein metabolism disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_1873 Jalili syndrome 'Jalili syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Jalili syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Jalili syndrome' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_157713 Congenital or early infantile CACH syndrome 'Congenital or early infantile CACH syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1891 Intellectual disability - spasticity - ectrodactyly 'Intellectual disability - spasticity - ectrodactyly' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_1892 Ectrodactyly - polydactyly 'Ectrodactyly - polydactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Ectrodactyly - polydactyly' SubClassOf 'congenital limb malformation' 'Ectrodactyly - polydactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_1897 EEM syndrome 'EEM syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016990 acquired prothrombin deficiency 'acquired prothrombin deficiency' SubClassOf 'hemorrhagic disorder due to a coagulation factors defect' http://purl.obolibrary.org/obo/MONDO_0014353 immunodeficiency 23 'immunodeficiency 23' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.ebi.ac.uk/efo/EFO_0005297 Granulomatosis with Polyangiitis 'Granulomatosis with Polyangiitis' SubClassOf 'systemic inflammatory disease associated with an acquired peripheral neuropathy' 'Granulomatosis with Polyangiitis' SubClassOf 'inflammatory and autoimmune disease with epilepsy' 'Granulomatosis with Polyangiitis' SubClassOf 'central nervous system vasculitis' http://www.orpha.net/ORDO/Orphanet_207113 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan 'Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_281097 Autosomal recessive congenital ichthyosis 'Autosomal recessive congenital ichthyosis' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_90641 Mitochondrial non-syndromic sensorineural deafness 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'Mitochondrial non-syndromic sensorineural deafness' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' http://www.orpha.net/ORDO/Orphanet_364028 X-linked intellectual disability due to GRIA3 anomalies 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_53698 Hyaline body myopathy 'Hyaline body myopathy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_53693 GRACILE syndrome 'GRACILE syndrome' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'GRACILE syndrome' SubClassOf 'Mitochondrial disease' 'GRACILE syndrome' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' http://www.orpha.net/ORDO/Orphanet_53690 Congenital lactase deficiency 'Congenital lactase deficiency' SubClassOf 'Metabolic disease with intestinal involvement' 'Congenital lactase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' 'Congenital lactase deficiency' SubClassOf 'has modifier' some 'congenital' 'Congenital lactase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' http://www.orpha.net/ORDO/Orphanet_53691 Congenital cornea plana 'Congenital cornea plana' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_99042 Congenitally uncorrected transposition of the great arteries with coarctation 'Congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0014405 STING-associated vasculopathy with onset in infancy 'STING-associated vasculopathy with onset in infancy' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'STING-associated vasculopathy with onset in infancy' SubClassOf 'Immune dysregulation disease with immunodeficiency' http://purl.obolibrary.org/obo/HP_0000817 Poor eye contact 'Poor eye contact' SubClassOf 'Impaired social interactions' 'Poor eye contact' SubClassOf 'Impaired use of nonverbal behaviors' http://purl.obolibrary.org/obo/MONDO_0014263 8q24.3 microdeletion syndrome '8q24.3 microdeletion syndrome' SubClassOf 'Genetic malformation syndrome with short stature' http://www.orpha.net/ORDO/Orphanet_391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome 'Short stature-optic atrophy-Pelger-Huët anomaly syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Short stature-optic atrophy-Pelger-Huët anomaly syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Short stature-optic atrophy-Pelger-Huët anomaly syndrome' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_244310 RFT1-CDG 'RFT1-CDG' SubClassOf 'metabolic disease with epilepsy' 'RFT1-CDG' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_391307 Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome 'Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome 'Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_209905 Brain-lung-thyroid syndrome 'Brain-lung-thyroid syndrome' SubClassOf 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' 'Brain-lung-thyroid syndrome' SubClassOf 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' http://www.orpha.net/ORDO/Orphanet_268261 21q22.13q22.2 microdeletion syndrome '21q22.13q22.2 microdeletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'Inherited non-syndromic ichthyosis' 'Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'Inherited non-syndromic ichthyosis' http://www.ebi.ac.uk/efo/EFO_0005458 SK-MM-2 'SK-MM-2' SubClassOf 'cancer cell line' http://www.orpha.net/ORDO/Orphanet_99095 Gerbode defect 'Gerbode defect' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_220295 Xeroderma pigmentosum-Cockayne syndrome complex 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Developmental anomaly of metabolic origin' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' http://www.orpha.net/ORDO/Orphanet_391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome' SubClassOf 'Immunodeficiency syndrome with autoimmunity' http://www.orpha.net/ORDO/Orphanet_293181 Malignant migrating partial seizures of infancy 'Malignant migrating partial seizures of infancy' SubClassOf 'Channelopathy with epilepsy' 'Malignant migrating partial seizures of infancy' SubClassOf 'Channelopathy with epilepsy' http://www.orpha.net/ORDO/Orphanet_281190 Congenital reticular ichthyosiform erythroderma 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'Inherited non-syndromic ichthyosis' 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'Inherited non-syndromic ichthyosis' 'Congenital reticular ichthyosiform erythroderma' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency 'Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 'Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 'Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 'Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_99135 6-phosphogluconate dehydrogenase deficiency '6-phosphogluconate dehydrogenase deficiency' SubClassOf 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' '6-phosphogluconate dehydrogenase deficiency' SubClassOf 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' http://www.orpha.net/ORDO/Orphanet_99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' 'Hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' http://www.orpha.net/ORDO/Orphanet_281103 Keratinopathic ichthyosis 'Keratinopathic ichthyosis' SubClassOf 'Inherited non-syndromic ichthyosis' 'Keratinopathic ichthyosis' SubClassOf 'Inherited non-syndromic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0004557 congenital fibrosarcoma 'congenital fibrosarcoma' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome 'immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf 'Immune dysregulation disease with immunodeficiency' 'immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf 'primary immunodeficiency disease' 'immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_401923 9q31.1q31.3 microdeletion syndrome '9q31.1q31.3 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_158038 Primary hemophagocytic lymphohistiocytosis 'Primary hemophagocytic lymphohistiocytosis' SubClassOf 'Immune dysregulation disease with immunodeficiency' 'Primary hemophagocytic lymphohistiocytosis' SubClassOf 'Immune dysregulation disease with immunodeficiency' 'Primary hemophagocytic lymphohistiocytosis' SubClassOf 'primary immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0100450 CAPN5 vitreoretinopathy 'CAPN5 vitreoretinopathy' SubClassOf 'Vitreoretinal degeneration' 'CAPN5 vitreoretinopathy' SubClassOf 'Vitreoretinopathy' http://www.orpha.net/ORDO/Orphanet_352487 Digital anomalies - intellectual disability - short stature 'Digital anomalies - intellectual disability - short stature' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Digital anomalies - intellectual disability - short stature' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_352490 Autism spectrum disorder due to AUTS2 deficiency 'Autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0100437 RPGR retinopathy 'RPGR retinopathy' SubClassOf 'Retinal dystrophy' http://www.orpha.net/ORDO/Orphanet_352456 Mitochondrial DNA maintenance syndrome 'Mitochondrial DNA maintenance syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Mitochondrial DNA maintenance syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'Mitochondrial DNA maintenance syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' http://www.orpha.net/ORDO/Orphanet_77261 Gaucher disease type 3 'Gaucher disease type 3' SubClassOf 'lysosomal disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_77260 Gaucher disease type 2 'Gaucher disease type 2' SubClassOf 'lysosomal disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_65287 Beta-ureidopropionase deficiency 'Beta-ureidopropionase deficiency' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_77259 Gaucher disease type 1 'Gaucher disease type 1' SubClassOf 'secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease' http://www.orpha.net/ORDO/Orphanet_352479 Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016405 sterol metabolism disorder with epilepsy 'sterol metabolism disorder with epilepsy' SubClassOf 'metabolic disease with epilepsy' 'sterol metabolism disorder with epilepsy' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0016400 metal transport or utilization disorder with epilepsy 'metal transport or utilization disorder with epilepsy' SubClassOf 'metabolic disease with epilepsy' http://purl.obolibrary.org/obo/MONDO_0016401 energy metabolism disorder with epilepsy 'energy metabolism disorder with epilepsy' SubClassOf 'metabolic disease with epilepsy' 'energy metabolism disorder with epilepsy' SubClassOf 'Disorder of energy metabolism' 'energy metabolism disorder with epilepsy' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0016402 mitochondrial disease with epilepsy 'mitochondrial disease with epilepsy' SubClassOf 'energy metabolism disorder with epilepsy' 'mitochondrial disease with epilepsy' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0016435 acquired dermis elastic tissue disorder with decreased elastic tissue 'acquired dermis elastic tissue disorder with decreased elastic tissue' SubClassOf 'acquired dermis elastic tissue disorder' http://purl.obolibrary.org/obo/MONDO_0016436 acquired dermis elastic tissue disorder with increased elastic tissue 'acquired dermis elastic tissue disorder with increased elastic tissue' SubClassOf 'acquired dermis elastic tissue disorder' http://www.orpha.net/ORDO/Orphanet_90030 Hemolytic anemia due to glutathione reductase deficiency 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' 'Hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies' http://purl.obolibrary.org/obo/MONDO_0016446 acquired cutis laxa 'acquired cutis laxa' SubClassOf 'acquired dermis elastic tissue disorder with decreased elastic tissue' 'acquired cutis laxa' SubClassOf 'acquired dermis elastic tissue disorder' http://purl.obolibrary.org/obo/MONDO_0016441 acquired pseudoxanthoma elasticum 'acquired pseudoxanthoma elasticum' SubClassOf 'acquired dermis elastic tissue disorder with increased elastic tissue' 'acquired pseudoxanthoma elasticum' SubClassOf 'has modifier' some 'acquired' http://www.orpha.net/ORDO/Orphanet_401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'Cerebral malformation with epilepsy' 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'cerebral malformation' 'Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'Cerebral malformation with epilepsy' http://www.orpha.net/ORDO/Orphanet_352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_352577 Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency 'Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_352587 Focal epilepsy - intellectual disability - cerebro-cerebellar malformation 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' SubClassOf 'Cerebral malformation with epilepsy' 'Focal epilepsy - intellectual disability - cerebro-cerebellar malformation' SubClassOf 'Cerebral malformation with epilepsy' http://www.orpha.net/ORDO/Orphanet_364577 Intellectual disability-brachydactyly-Pierre Robin syndrome 'Intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0100196 TPM2-related myopathy 'TPM2-related myopathy' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0100175 TTN-related myopathy 'TTN-related myopathy' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016397 lysosomal disease with epilepsy 'lysosomal disease with epilepsy' SubClassOf 'Rare genetic neurological disorder' 'lysosomal disease with epilepsy' SubClassOf 'metabolic disease with epilepsy' 'lysosomal disease with epilepsy' SubClassOf 'Lysosomal disease' http://purl.obolibrary.org/obo/MONDO_0016398 peroxisomal disease with epilepsy 'peroxisomal disease with epilepsy' SubClassOf 'metabolic disease with epilepsy' http://purl.obolibrary.org/obo/MONDO_0016399 amino acid or protein metabolism disease with epilepsy 'amino acid or protein metabolism disease with epilepsy' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_329802 5p13 microduplication syndrome '5p13 microduplication syndrome' SubClassOf 'syndrome caused by partial chromosomal duplication' '5p13 microduplication syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0100212 IFAP syndrome 'IFAP syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'IFAP syndrome' SubClassOf 'Inherited ichthyosis syndromic form' http://purl.obolibrary.org/obo/MONDO_0100213 IFAP syndrome with or without BRESHECK syndrome 'IFAP syndrome with or without BRESHECK syndrome' SubClassOf 'X-linked recessive disease' 'IFAP syndrome with or without BRESHECK syndrome' SubClassOf 'IFAP syndrome' http://www.orpha.net/ORDO/Orphanet_293642 Blepharophimosis-intellectual disability syndrome 'Blepharophimosis-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 'recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome' SubClassOf 'Inborn errors of metabolism' 'recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_77295 Odontoleukodystrophy 'Odontoleukodystrophy' SubClassOf 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' 'Odontoleukodystrophy' SubClassOf 'Leukodystrophy' 'Odontoleukodystrophy' SubClassOf 'Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism' http://www.orpha.net/ORDO/Orphanet_77292 Niemann-Pick disease type A 'Niemann-Pick disease type A' SubClassOf 'lysosomal disease with epilepsy' http://purl.obolibrary.org/obo/MONDO_0100084 alpha-actinopathy 'alpha-actinopathy' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy 'developmental and epileptic encephalopathy' SubClassOf 'Channelopathy with epilepsy' 'developmental and epileptic encephalopathy' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016235 complex vascular malformation with associated anomalies 'complex vascular malformation with associated anomalies' SubClassOf 'vascular anomaly' http://purl.obolibrary.org/obo/MONDO_0018896 thrombotic thrombocytopenic purpura 'thrombotic thrombocytopenic purpura' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_217017 Zechi-Ceide syndrome 'Zechi-Ceide syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_217026 Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'Genetic malformation syndrome with short stature' 'Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'Genetic malformation syndrome with short stature' http://purl.obolibrary.org/obo/MONDO_0100108 TPM3-related myopathy 'TPM3-related myopathy' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0005724 MM.1S 'MM.1S' SubClassOf 'cancer cell line' http://www.orpha.net/ORDO/Orphanet_90340 Blau syndrome 'Blau syndrome' SubClassOf 'secondary interstitial lung disease specific to childhood associated with a granulomatous disease' 'Blau syndrome' SubClassOf 'pulmonary sarcoidosis' 'Blau syndrome' SubClassOf 'Sarcoidosis' http://www.orpha.net/ORDO/Orphanet_352333 Congenital ichthyosis - intellectual disability - spastic quadriplegia 'Congenital ichthyosis - intellectual disability - spastic quadriplegia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3082 Intellectual disability - polydactyly - uncombable hair 'Intellectual disability - polydactyly - uncombable hair' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3080 Intellectual disability, Wolff type 'Intellectual disability, Wolff type' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0007045 ATAC-seq 'ATAC-seq' SubClassOf 'library preparation' http://www.orpha.net/ORDO/Orphanet_3047 Blepharophimosis-intellectual disability syndrome, SBBYS type 'Blepharophimosis-intellectual disability syndrome, SBBYS type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3044 Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus 'Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3041 Intellectual disability - balding - patella luxation - acromicria 'Intellectual disability - balding - patella luxation - acromicria' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3057 Monoamine oxidase A deficiency 'Monoamine oxidase A deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Monoamine oxidase A deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Monoamine oxidase A deficiency' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_3051 intellectual disability - sparse hair - brachydactyly 'intellectual disability - sparse hair - brachydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700120 'intellectual disability - sparse hair - brachydactyly' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_99843 Leukocyte adhesion deficiency type II 'Leukocyte adhesion deficiency type II' SubClassOf 'metabolic disease with epilepsy' 'Leukocyte adhesion deficiency type II' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_3068 Intellectual disability - myopathy - short stature - endocrine defect 'Intellectual disability - myopathy - short stature - endocrine defect' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3079 Intellectual disability, Buenos-Aires type 'Intellectual disability, Buenos-Aires type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3074 Intellectual disability - short stature - hypertelorism 'Intellectual disability - short stature - hypertelorism' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3071 Costello syndrome 'Costello syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Costello syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Costello syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Costello syndrome' SubClassOf 'congenital nervous system disorder' 'Costello syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_3006 Pyridoxine-dependent epilepsy 'Pyridoxine-dependent epilepsy' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_3004 Mirror polydactyly - vertebral segmentation - limbs defects 'Mirror polydactyly - vertebral segmentation - limbs defects' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Mirror polydactyly - vertebral segmentation - limbs defects' SubClassOf 'syndromic disease' 'Mirror polydactyly - vertebral segmentation - limbs defects' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_73246 Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay 'Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_87876 sialidosis type II 'sialidosis type II' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'sialidosis type II' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_85201 Genitopatellar syndrome 'Genitopatellar syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3020 Ramsay-Hunt syndrome 'Ramsay-Hunt syndrome' SubClassOf 'infectious disease with peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_85203 Acro-pectoral syndrome 'Acro-pectoral syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Acro-pectoral syndrome' SubClassOf 'congenital limb malformation' 'Acro-pectoral syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_85202 Keutel syndrome 'Keutel syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_99802 Hemimegalencephaly 'Hemimegalencephaly' SubClassOf 'Cerebral malformation with epilepsy' 'Hemimegalencephaly' SubClassOf 'Cerebral malformation with epilepsy' 'Hemimegalencephaly' SubClassOf 'cerebral malformation' http://www.orpha.net/ORDO/Orphanet_99806 Oculootodental syndrome 'Oculootodental syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Oculootodental syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_3032 NPHP3-related Meckel-like syndrome 'NPHP3-related Meckel-like syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_99812 LIG4 syndrome 'LIG4 syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'LIG4 syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_3038 Delayed speech - facial asymmetry - strabismus - ear lobe creases 'Delayed speech - facial asymmetry - strabismus - ear lobe creases' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3109 Mayer-Rokitansky-Küster-Hauser syndrome 'Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf 'Female infertility due to an implantation defect of genetic origin' 'Mayer-Rokitansky-Küster-Hauser syndrome' SubClassOf 'Female infertility due to an implantation defect of genetic origin' http://www.orpha.net/ORDO/Orphanet_85293 X-linked intellectual disability, Cabezas type 'X-linked intellectual disability, Cabezas type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85284 BRESEK syndrome 'BRESEK syndrome' SubClassOf 'IFAP syndrome with or without BRESHECK syndrome' 'BRESEK syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85287 X-linked intellectual disability, Siderius type 'X-linked intellectual disability, Siderius type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85286 X-linked intellectual disability, Shashi type 'X-linked intellectual disability, Shashi type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85280 X-linked intellectual disability - cubitus valgus - dysmorphism 'X-linked intellectual disability - cubitus valgus - dysmorphism' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_261494 Kleefstra syndrome 'Kleefstra syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85274 Syndromic X-linked intellectual disability 7 'Syndromic X-linked intellectual disability 7' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85273 X-linked intellectual disability, Abidi type 'X-linked intellectual disability, Abidi type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85278 Christianson syndrome 'Christianson syndrome' SubClassOf 'Cerebral malformation with epilepsy' 'Christianson syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85279 Syndromic X-linked intellectual disability due to JARID1C mutation 'Syndromic X-linked intellectual disability due to JARID1C mutation' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_97242 Congenital muscular dystrophy 'Congenital muscular dystrophy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_97245 Congenital myopathy 'Congenital myopathy' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0024643 myocardial disorder 'myocardial disorder' SubClassOf 'musculoskeletal system disease' http://www.orpha.net/ORDO/Orphanet_319480 Acute myeloid leukemia with CEBPA somatic mutations 'Acute myeloid leukemia with CEBPA somatic mutations' SubClassOf 'acute myeloid leukemia with recurrent genetic anomaly' 'Acute myeloid leukemia with CEBPA somatic mutations' SubClassOf 'Inherited acute myeloid leukemia' 'Acute myeloid leukemia with CEBPA somatic mutations' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0009064 ocular cystinosis 'ocular cystinosis' SubClassOf 'Metabolic disease with pigmentary retinitis' http://www.orpha.net/ORDO/Orphanet_97297 Bohring-Opitz syndrome 'Bohring-Opitz syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009063 ventriculomegaly-cystic kidney disease 'ventriculomegaly-cystic kidney disease' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' http://www.orpha.net/ORDO/Orphanet_200421 Immunodeficiency with factor H anomaly 'Immunodeficiency with factor H anomaly' SubClassOf 'immunodeficiency due to a complement regulatory deficiency' 'Immunodeficiency with factor H anomaly' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' http://www.ebi.ac.uk/efo/EFO_0009539 congenital mitral malformation 'congenital mitral malformation' SubClassOf 'has modifier' some 'congenital' http://www.ebi.ac.uk/efo/EFO_0009569 trigeminal nerve disease 'trigeminal nerve disease' SubClassOf 'head disease' http://www.orpha.net/ORDO/Orphanet_99718 Leber plus disease 'Leber plus disease' SubClassOf 'Mitochondrial disease with eye involvement' 'Leber plus disease' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Leber plus disease' SubClassOf 'Mitochondrial disease with eye involvement' 'Leber plus disease' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_99741 King-Denborough syndrome 'King-Denborough syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'King-Denborough syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'King-Denborough syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'King-Denborough syndrome' SubClassOf 'Genetic malformation syndrome with short stature' http://www.orpha.net/ORDO/Orphanet_99742 Amish lethal microcephaly 'Amish lethal microcephaly' SubClassOf 'Developmental anomaly of metabolic origin' http://www.orpha.net/ORDO/Orphanet_99796 Subcortical band heterotopia 'Subcortical band heterotopia' SubClassOf 'cerebral malformation due to abnormal neuronal migration' http://www.orpha.net/ORDO/Orphanet_85112 Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'Syndrome with 46,XX disorder of sex development' 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'Syndrome with 46,XX disorder of sex development' 'Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma' SubClassOf 'Genetic 46,XX disorder of sex development' http://www.orpha.net/ORDO/Orphanet_261323 21q22.11q22.12 microdeletion syndrome '21q22.11q22.12 microdeletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_85173 IMAGe syndrome 'IMAGe syndrome' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'IMAGe syndrome' SubClassOf 'Syndromic urogenital tract malformation' 'IMAGe syndrome' SubClassOf 'Slender bone dysplasia' 'IMAGe syndrome' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'IMAGe syndrome' SubClassOf 'syndromic disease' 'IMAGe syndrome' SubClassOf 'has modifier' some 'rare' 'IMAGe syndrome' SubClassOf 'Slender bone dysplasia' 'IMAGe syndrome' SubClassOf 'Syndromic urogenital tract malformation' http://www.orpha.net/ORDO/Orphanet_99776 Mosaic trisomy 9 'Mosaic trisomy 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700016 http://www.orpha.net/ORDO/Orphanet_248305 Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency 'Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' 'Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency' SubClassOf 'Hemolytic anemia due to a disorder of glycolytic enzymes' http://www.orpha.net/ORDO/Orphanet_319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' http://www.orpha.net/ORDO/Orphanet_85191 Singleton-Merten dysplasia 'Singleton-Merten dysplasia' SubClassOf 'Immune dysregulation disease with immunodeficiency' 'Singleton-Merten dysplasia' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' http://www.orpha.net/ORDO/Orphanet_319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'mycobacterial infectious disease' 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'autosomal recessive disease' 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' http://www.ebi.ac.uk/efo/EFO_1002051 facial nerve disease 'facial nerve disease' SubClassOf 'head disease' http://www.orpha.net/ORDO/Orphanet_319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' http://www.orpha.net/ORDO/Orphanet_319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' http://www.orpha.net/ORDO/Orphanet_319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' http://www.ebi.ac.uk/efo/EFO_0007208 Churg-Strauss syndrome 'Churg-Strauss syndrome' SubClassOf 'central nervous system disease' 'Churg-Strauss syndrome' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_0007220 congenital toxoplasmosis 'congenital toxoplasmosis' SubClassOf 'infectious disease with epilepsy' 'congenital toxoplasmosis' SubClassOf 'central nervous system infection' http://www.ebi.ac.uk/efo/EFO_0007213 Colorado tick fever 'Colorado tick fever' SubClassOf 'infectious disease with epilepsy' http://www.ebi.ac.uk/efo/EFO_0007216 congenital diaphragmatic hernia 'congenital diaphragmatic hernia' SubClassOf 'has modifier' some 'congenital' http://www.ebi.ac.uk/efo/EFO_0007219 congenital syphilis 'congenital syphilis' SubClassOf 'has modifier' some 'congenital' 'congenital syphilis' SubClassOf 'has modifier' some 'congenital' http://www.ebi.ac.uk/efo/EFO_0007242 Eastern equine encephalitis 'Eastern equine encephalitis' SubClassOf 'infectious disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_210122 Congenital alveolar capillary dysplasia 'Congenital alveolar capillary dysplasia' SubClassOf 'primary interstitial lung disease specific to childhood due to alveolar vascular disorder' 'Congenital alveolar capillary dysplasia' SubClassOf 'primary interstitial lung disease specific to childhood' http://www.orpha.net/ORDO/Orphanet_319171 Distal 17p13.1 microdeletion syndrome 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'chromosome 17p deletion' 'Distal 17p13.1 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_319182 Wiedemann-Steiner syndrome 'Wiedemann-Steiner syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_48431 Congenital cataracts - facial dysmorphism - neuropathy 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Syndromic developmental defect of the eye' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Cerebellar ataxia with peripheral neuropathy' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Syndromic developmental defect of the eye' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'congenital nervous system disorder' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'Cerebellar ataxia with peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0007280 gastrointestinal tuberculosis 'gastrointestinal tuberculosis' SubClassOf 'Tuberculosis' 'gastrointestinal tuberculosis' SubClassOf 'extrapulmonary tuberculosis' http://www.orpha.net/ORDO/Orphanet_48471 Lissencephaly 'Lissencephaly' SubClassOf 'Cerebral malformation with epilepsy' 'Lissencephaly' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Lissencephaly' SubClassOf 'disorder of development or morphogenesis' 'Lissencephaly' SubClassOf 'Cerebral malformation with epilepsy' 'Lissencephaly' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' http://www.orpha.net/ORDO/Orphanet_3242 Renpenning syndrome 'Renpenning syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3241 Deafness-craniofacial syndrome 'Deafness-craniofacial syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3246 Symphalangism with multiple anomalies of hands and feet 'Symphalangism with multiple anomalies of hands and feet' SubClassOf 'symphalangism' http://www.orpha.net/ORDO/Orphanet_3255 Filippi syndrome 'Filippi syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Filippi syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Filippi syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85453 X-linked reticulate pigmentary disorder with systemic manifestations 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' 'X-linked reticulate pigmentary disorder with systemic manifestations' SubClassOf 'Immune dysregulation disease with immunodeficiency' http://www.orpha.net/ORDO/Orphanet_3259 Syndactyly-polydactyly-ear lobe syndrome 'Syndactyly-polydactyly-ear lobe syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Syndactyly-polydactyly-ear lobe syndrome' SubClassOf 'syndromic disease' 'Syndactyly-polydactyly-ear lobe syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_3258 Cenani-Lenz syndrome 'Cenani-Lenz syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Cenani-Lenz syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Cenani-Lenz syndrome' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_3261 Autoimmune lymphoproliferative syndrome 'Autoimmune lymphoproliferative syndrome' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Autoimmune lymphoproliferative syndrome' SubClassOf 'Immunodeficiency syndrome with autoimmunity' http://www.orpha.net/ORDO/Orphanet_3268 Synostosis - microcephaly - scoliosis 'Synostosis - microcephaly - scoliosis' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Synostosis - microcephaly - scoliosis' SubClassOf 'syndromic disease' 'Synostosis - microcephaly - scoliosis' SubClassOf 'Syndrome with synostosis or other joint formation defect' http://www.orpha.net/ORDO/Orphanet_3270 Radio-ulnar synostosis - intellectual disability - hypotonia 'Radio-ulnar synostosis - intellectual disability - hypotonia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3320 Thrombocytopenia - absent radius 'Thrombocytopenia - absent radius' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Thrombocytopenia - absent radius' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_3328 Absent tibia - polydactyly - arachnoid cyst 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Absent tibia - polydactyly - arachnoid cyst' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_3338 Toriello-Carey syndrome 'Toriello-Carey syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' http://www.orpha.net/ORDO/Orphanet_3355 Trichoodontoonychial dysplasia 'Trichoodontoonychial dysplasia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Trichoodontoonychial dysplasia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_3353 Trichodermodysplasia - dental alterations 'Trichodermodysplasia - dental alterations' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Trichodermodysplasia - dental alterations' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_3352 Tricho-dento-osseous syndrome 'Tricho-dento-osseous syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Tricho-dento-osseous syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_3351 Trichodental syndrome 'Trichodental syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Trichodental syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_3357 Autosomal dominant trichoodontoonychodysplasia-syndactyly 'Autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_3304 Fallot complex - intellectual disability - growth delay 'Fallot complex - intellectual disability - growth delay' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3319 Congenital amegakaryocytic thrombocytopenia 'Congenital amegakaryocytic thrombocytopenia' SubClassOf 'congenital anemia' http://purl.obolibrary.org/obo/MONDO_0000456 cerebral creatine deficiency syndrome 'cerebral creatine deficiency syndrome' SubClassOf 'energy metabolism disorder with epilepsy' 'cerebral creatine deficiency syndrome' SubClassOf 'Disorder of energy metabolism' http://www.ebi.ac.uk/efo/EFO_0007130 acute disseminated encephalomyelitis 'acute disseminated encephalomyelitis' SubClassOf 'infectious disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_3168 Sillence syndrome 'Sillence syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Sillence syndrome' SubClassOf 'syndromic disease' 'Sillence syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_3164 Omphalocele syndrome, Shprintzen-Goldberg type 'Omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3163 SHORT syndrome 'SHORT syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'SHORT syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'SHORT syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'SHORT syndrome' SubClassOf 'Genetic malformation syndrome with short stature' http://www.orpha.net/ORDO/Orphanet_3176 Spina bifida - hypospadias 'Spina bifida - hypospadias' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' http://www.orpha.net/ORDO/Orphanet_3172 Eyebrow duplication - syndactyly 'Eyebrow duplication - syndactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Eyebrow duplication - syndactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Eyebrow duplication - syndactyly' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_36367 Distal monosomy 1q 'Distal monosomy 1q' SubClassOf 'chromosome 1q deletion' http://www.orpha.net/ORDO/Orphanet_3186 Holoprosencephaly - radial heart renal anomalies 'Holoprosencephaly - radial heart renal anomalies' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3184 Steatocystoma multiplex - natal teeth 'Steatocystoma multiplex - natal teeth' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Steatocystoma multiplex - natal teeth' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Steatocystoma multiplex - natal teeth' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_3199 Stimmler syndrome 'Stimmler syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3196 Steroid dehydrogenase deficiency - dental anomalies 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'Developmental anomaly of metabolic origin' 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'disorder of development or morphogenesis' 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'metabolic disease' 'Steroid dehydrogenase deficiency - dental anomalies' SubClassOf 'Inborn errors of metabolism' http://www.orpha.net/ORDO/Orphanet_3121 Ruvalcaba syndrome 'Ruvalcaba syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_99901 Acyl-CoA dehydrogenase 9 deficiency 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes' 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy' 'Acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_99900 Long chain acyl-CoA dehydrogenase deficiency 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Metabolic disease due to other fatty acid oxidation disorder' 'Long chain acyl-CoA dehydrogenase deficiency' SubClassOf 'Metabolic disease due to other fatty acid oxidation disorder' http://www.orpha.net/ORDO/Orphanet_3134 SCARF syndrome 'SCARF syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3133 Say-Field-Coldwell syndrome 'Say-Field-Coldwell syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Say-Field-Coldwell syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Say-Field-Coldwell syndrome' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_85331 X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature 'X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3132 Say-Barber-Miller syndrome 'Say-Barber-Miller syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85335 Fried syndrome 'Fried syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3137 Alpha-N-acetylgalactosaminidase deficiency 'Alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'lysosomal disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_85326 X-linked intellectual disability, Stoll type 'X-linked intellectual disability, Stoll type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85325 X-linked intellectual disability, Stevenson type 'X-linked intellectual disability, Stevenson type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85322 X-linked intellectual disability, Pai type 'X-linked intellectual disability, Pai type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85321 Deafness - intellectual disability, Martin-Probst type 'Deafness - intellectual disability, Martin-Probst type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85317 X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration 'X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_85319 X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism 'X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3207 White matter hypoplasia - corpus callosum agenesis - intellectual disability 'White matter hypoplasia - corpus callosum agenesis - intellectual disability' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'White matter hypoplasia - corpus callosum agenesis - intellectual disability' SubClassOf 'has modifier' some 'rare' http://www.orpha.net/ORDO/Orphanet_3205 Sturge-Weber syndrome 'Sturge-Weber syndrome' SubClassOf 'Cerebral diseases of vascular origin with epilepsy' 'Sturge-Weber syndrome' SubClassOf 'Cerebral diseases of vascular origin with epilepsy' http://www.orpha.net/ORDO/Orphanet_3219 Fountain syndrome 'Fountain syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3222 Phosphoribosylpyrophosphate synthetase superactivity 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_3224 Deafness - genital anomalies - metacarpal and metatarsal synostosis 'Deafness - genital anomalies - metacarpal and metatarsal synostosis' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_3230 Deafness - oligodontia 'Deafness - oligodontia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Deafness - oligodontia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://purl.obolibrary.org/obo/MONDO_0014914 Dias-Logan syndrome 'Dias-Logan syndrome' SubClassOf 'genetic disorder' 'Dias-Logan syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700120 http://www.orpha.net/ORDO/Orphanet_3237 Multiple synostoses syndrome 'Multiple synostoses syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014944 short stature-brachydactyly-obesity-global developmental delay syndrome 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_97360 Robinow syndrome 'Robinow syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Robinow syndrome' SubClassOf 'Genetic malformation syndrome with short stature' http://purl.obolibrary.org/obo/MONDO_0024304 ichthyosis vulgaris 'ichthyosis vulgaris' SubClassOf 'ichthyosis' http://www.orpha.net/ORDO/Orphanet_261529 Ring chromosome Y 'Ring chromosome Y' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700028 http://www.orpha.net/ORDO/Orphanet_261524 Paternal uniparental disomy of chromosome X 'Paternal uniparental disomy of chromosome X' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700027 http://www.orpha.net/ORDO/Orphanet_261519 Maternal uniparental disomy of chromosome X 'Maternal uniparental disomy of chromosome X' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700027 http://purl.obolibrary.org/obo/MONDO_0000171 muscular dystrophy-dystroglycanopathy, type A 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_330197 Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability 'Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0007495 St. Louis encephalitis 'St. Louis encephalitis' SubClassOf 'infectious disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_329224 Intellectual disability - craniofacial dysmorphism - cryptorchidism 'Intellectual disability - craniofacial dysmorphism - cryptorchidism' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures 'prenatal-onset spinal muscular atrophy with congenital bone fractures' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0000212 hypercalcemia, infantile 'hypercalcemia, infantile' SubClassOf 'Inborn errors of metabolism' 'hypercalcemia, infantile' SubClassOf 'hypercalcemia disease' http://www.orpha.net/ORDO/Orphanet_261846 Partial deletion of chromosome 20 'Partial deletion of chromosome 20' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700025 http://purl.obolibrary.org/obo/HP_0030276 Small scrotum 'Small scrotum' SubClassOf 'Abnormality of the genital system' 'Small scrotum' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_261836 Partial deletion of chromosome 18 'Partial deletion of chromosome 18' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700125 http://www.orpha.net/ORDO/Orphanet_261831 Partial deletion of chromosome 17 'Partial deletion of chromosome 17' SubClassOf 'chromosome 17 abnormality' http://www.orpha.net/ORDO/Orphanet_261841 Partial deletion of chromosome 19 'Partial deletion of chromosome 19' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700024 http://www.ebi.ac.uk/efo/EFO_0007409 Ornithine transcarbamylase deficiency ornithine carbamoyltransferase deficiency 'Ornithine transcarbamylase deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Ornithine transcarbamylase deficiency' SubClassOf 'Cerebral organic aciduria' 'Ornithine transcarbamylase deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_329252 Spondylocostal dysostosis - hypospadias - intellectual disability 'Spondylocostal dysostosis - hypospadias - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_199318 15q13.3 microdeletion syndrome '15q13.3 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0007318 hyperinsulinemic hypoglycemia 'hyperinsulinemic hypoglycemia' SubClassOf 'has modifier' some 'rare' 'hyperinsulinemic hypoglycemia' SubClassOf 'endocrine system disease' http://www.ebi.ac.uk/efo/EFO_0007335 Kluver-Bucy syndrome 'Kluver-Bucy syndrome' SubClassOf 'infectious disease with epilepsy' http://www.ebi.ac.uk/efo/EFO_0007332 Japanese encephalitis 'Japanese encephalitis' SubClassOf 'infectious disease with epilepsy' http://www.ebi.ac.uk/efo/EFO_0007337 laryngeal tuberculosis 'laryngeal tuberculosis' SubClassOf 'Tuberculosis' 'laryngeal tuberculosis' SubClassOf 'extrapulmonary tuberculosis' http://www.orpha.net/ORDO/Orphanet_261826 Partial deletion of chromosome 16 'Partial deletion of chromosome 16' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700023 http://www.orpha.net/ORDO/Orphanet_261816 Partial deletion of chromosome 11 'Partial deletion of chromosome 11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700018 http://www.orpha.net/ORDO/Orphanet_261811 Partial deletion of chromosome 10 'Partial deletion of chromosome 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700017 http://www.orpha.net/ORDO/Orphanet_261801 Partial deletion of chromosome 8 'Partial deletion of chromosome 8' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700015 http://www.orpha.net/ORDO/Orphanet_261806 Partial deletion of chromosome 9 'Partial deletion of chromosome 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700016 http://www.ebi.ac.uk/efo/EFO_0007374 mixed connective tissue disease 'mixed connective tissue disease' SubClassOf 'secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease' 'mixed connective tissue disease' SubClassOf 'systemic inflammatory disease associated with an acquired peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_165991 Exercise-induced hyperinsulinism 'Exercise-induced hyperinsulinism' SubClassOf 'hyperinsulinemic hypoglycemia' http://www.orpha.net/ORDO/Orphanet_307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 'Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_356961 SLC35A2-CDG 'SLC35A2-CDG' SubClassOf 'metabolic disease with epilepsy' 'SLC35A2-CDG' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'SLC35A2-CDG' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' http://www.orpha.net/ORDO/Orphanet_329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome 'Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_75326 Retinal arterial tortuosity 'Retinal arterial tortuosity' SubClassOf 'COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy' 'Retinal arterial tortuosity' SubClassOf 'arterial disorder' 'Retinal arterial tortuosity' SubClassOf 'Genetic central nervous system and retinal vascular disease' http://www.orpha.net/ORDO/Orphanet_99324 Paternal uniparental disomy of chromosome 13 'Paternal uniparental disomy of chromosome 13' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700020 http://www.orpha.net/ORDO/Orphanet_99329 48,XYYY syndrome '48,XYYY syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700028 http://www.orpha.net/ORDO/Orphanet_329329 Autosomal recessive frontotemporal pachygyria 'Autosomal recessive frontotemporal pachygyria' SubClassOf 'cerebral malformation due to abnormal neuronal migration' 'Autosomal recessive frontotemporal pachygyria' SubClassOf 'cerebral malformation' http://www.orpha.net/ORDO/Orphanet_99330 49,XYYYY syndrome '49,XYYYY syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700028 http://www.orpha.net/ORDO/Orphanet_329319 Hereditary thrombocytosis with transverse limb defect 'Hereditary thrombocytosis with transverse limb defect' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_75389 Brain malformation - congenital heart disease - postaxial polydactyly 'Brain malformation - congenital heart disease - postaxial polydactyly' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0002727 olfactory nerve disease 'olfactory nerve disease' SubClassOf 'head disease' http://purl.obolibrary.org/obo/MONDO_0014731 seizures-scoliosis-macrocephaly syndrome 'seizures-scoliosis-macrocephaly syndrome' SubClassOf 'metabolic disease with epilepsy' http://purl.obolibrary.org/obo/MONDO_0014746 SLC39A8-CDG 'SLC39A8-CDG' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'SLC39A8-CDG' SubClassOf 'congenital nervous system disorder' 'SLC39A8-CDG' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'congenital nervous system disorder' 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'congenital hematological disorder' http://purl.obolibrary.org/obo/MONDO_0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome 'spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_261796 Partial deletion of chromosome 7 'Partial deletion of chromosome 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700014 http://www.orpha.net/ORDO/Orphanet_261791 Partial deletion of chromosome 6 'Partial deletion of chromosome 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700013 http://www.orpha.net/ORDO/Orphanet_261776 Partial deletion of chromosome 3 'Partial deletion of chromosome 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700010 http://www.orpha.net/ORDO/Orphanet_261786 Partial deletion of chromosome 5 'Partial deletion of chromosome 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700012 http://www.orpha.net/ORDO/Orphanet_261781 Partial deletion of chromosome 4 'Partial deletion of chromosome 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700011 http://www.orpha.net/ORDO/Orphanet_261766 Partial deletion of chromosome 1 'Partial deletion of chromosome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700008 http://www.orpha.net/ORDO/Orphanet_199343 EAST syndrome 'EAST syndrome' SubClassOf 'Channelopathy with epilepsy' 'EAST syndrome' SubClassOf 'Channelopathy with epilepsy' http://www.orpha.net/ORDO/Orphanet_261771 Partial deletion of chromosome 2 'Partial deletion of chromosome 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700009 http://purl.obolibrary.org/obo/MONDO_0014564 congenital bile acid synthesis defect 5 'congenital bile acid synthesis defect 5' SubClassOf 'Cerebral organic aciduria' http://www.ebi.ac.uk/efo/EFO_0005037 aortic root size 'aortic root size' SubClassOf http://www.ebi.ac.uk/efo/EFO_0020865 http://www.orpha.net/ORDO/Orphanet_163634 Maffucci syndrome 'Maffucci syndrome' SubClassOf 'complex vascular malformation with associated anomalies' http://www.orpha.net/ORDO/Orphanet_100071 Mosaic trisomy 3 'Mosaic trisomy 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700010 http://www.orpha.net/ORDO/Orphanet_100049 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' SubClassOf 'primary interstitial lung disease specific to childhood due to alveolar structure disorder' 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' SubClassOf 'primary interstitial lung disease specific to childhood' http://www.orpha.net/ORDO/Orphanet_210548 Macrocephaly-autism syndrome 'Macrocephaly-autism syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Macrocephaly-autism syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Macrocephaly-autism syndrome' SubClassOf 'has modifier' some 'rare' 'Macrocephaly-autism syndrome' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_319651 Constitutional megaloblastic anemia with severe neurologic disease 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'metabolic disease with epilepsy' 'Constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'Cerebral organic aciduria' http://www.orpha.net/ORDO/Orphanet_319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'Mendelian susceptibility to mycobacterial diseases' 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency' http://www.orpha.net/ORDO/Orphanet_330054 Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay 'Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0002633 cranial nerve neoplasm 'cranial nerve neoplasm' SubClassOf 'head disease' http://www.orpha.net/ORDO/Orphanet_330032 Hemoglobin Lepore - beta-thalassemia 'Hemoglobin Lepore - beta-thalassemia' SubClassOf 'Beta-thalassemia associated with another hemoglobin anomaly' 'Hemoglobin Lepore - beta-thalassemia' SubClassOf 'Beta-thalassemia and related diseases' 'Hemoglobin Lepore - beta-thalassemia' SubClassOf 'Beta-thalassemia associated with another hemoglobin anomaly' http://purl.obolibrary.org/obo/MONDO_0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 'congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_319678 Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0014662 congenital insensitivity to pain-hypohidrosis syndrome 'congenital insensitivity to pain-hypohidrosis syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_75508 Angioosteohypotrophic syndrome 'Angioosteohypotrophic syndrome' SubClassOf 'Genetic vascular anomaly' 'Angioosteohypotrophic syndrome' SubClassOf 'complex vascular malformation with associated anomalies' http://www.orpha.net/ORDO/Orphanet_307766 Curly hair-acral keratoderma-caries syndrome 'Curly hair-acral keratoderma-caries syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_261974 Partial deletion of the short arm of chromosome 18 'Partial deletion of the short arm of chromosome 18' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'metabolic disease with epilepsy' 'Congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.ebi.ac.uk/efo/EFO_0007502 subacute sclerosing panencephalitis 'subacute sclerosing panencephalitis' SubClassOf 'infectious disease with epilepsy' http://purl.obolibrary.org/obo/MONDO_0014510 fatty acyl-CoA reductase 1 deficiency 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'peroxisomal disease with epilepsy' http://purl.obolibrary.org/obo/MONDO_0014532 autosomal dominant mitochondrial myopathy with exercise intolerance 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' http://www.ebi.ac.uk/efo/EFO_0007546 Western equine encephalitis 'Western equine encephalitis' SubClassOf 'infectious disease with epilepsy' http://www.ebi.ac.uk/efo/EFO_0007545 West Nile encephalitis 'West Nile encephalitis' SubClassOf 'infectious disease with epilepsy' http://purl.obolibrary.org/obo/HP_0040083 Toe walking 'Toe walking' SubClassOf 'Gait disturbance' 'Toe walking' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_83473 Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'brain disease' 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'Genetic non-syndromic central nervous system malformation' 'Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus' SubClassOf 'Congenital hydrocephalus' http://www.orpha.net/ORDO/Orphanet_95494 Combined pituitary hormone deficiencies, genetic forms 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations' 'Combined pituitary hormone deficiencies, genetic forms' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_95428 COG8-CDG 'COG8-CDG' SubClassOf 'metabolic disease with epilepsy' 'COG8-CDG' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009867 lethal congenital glycogen storage disease of heart 'lethal congenital glycogen storage disease of heart' SubClassOf 'Glycogen storage disease with hypertrophic cardiomyopathy' 'lethal congenital glycogen storage disease of heart' SubClassOf 'hypertrophic cardiomyopathy 6' 'lethal congenital glycogen storage disease of heart' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency 'Autosomal dominant hyperinsulinism due to SUR1 deficiency' SubClassOf 'hyperinsulinemic hypoglycemia' http://www.orpha.net/ORDO/Orphanet_2673 Neurofaciodigitorenal syndrome 'Neurofaciodigitorenal syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_276525 Familial hyperinsulinism 'Familial hyperinsulinism' SubClassOf 'hyperinsulinemic hypoglycaemia' 'Familial hyperinsulinism' SubClassOf 'Inborn errors of metabolism' 'Familial hyperinsulinism' SubClassOf 'hyperinsulinemic hypoglycemia' http://www.orpha.net/ORDO/Orphanet_2676 Neuroectodermal-endocrine syndrome 'Neuroectodermal-endocrine syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0044209 disorder of lectin complement activation pathway 'disorder of lectin complement activation pathway' SubClassOf 'Primary immunodeficiency due to a defect in innate immunity' http://purl.obolibrary.org/obo/MONDO_0020295 congenital pulmonary veins anomaly 'congenital pulmonary veins anomaly' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_166100 Stickler syndrome type 3 'Stickler syndrome type 3' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0020289 congenital tricuspid malformation 'congenital tricuspid malformation' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_2658 Lenz-Majewski hyperostotic dwarfism 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2669 Nephrosis - deafness - urinary tract - digital malformations 'Nephrosis - deafness - urinary tract - digital malformations' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2663 Nathalie syndrome 'Nathalie syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Nathalie syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_2608 N syndrome 'N syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2616 3M syndrome '3M syndrome' SubClassOf 'Genetic malformation syndrome with short stature' '3M syndrome' SubClassOf 'Genetic malformation syndrome with short stature' http://www.orpha.net/ORDO/Orphanet_46532 Hereditary persistence of fetal hemoglobin - beta-thalassemia 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' SubClassOf 'Beta-thalassemia associated with another hemoglobin anomaly' 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' SubClassOf 'Beta-thalassemia and related diseases' 'Hereditary persistence of fetal hemoglobin - beta-thalassemia' SubClassOf 'Beta-thalassemia associated with another hemoglobin anomaly' http://purl.obolibrary.org/obo/MONDO_0022752 chromosome 16p13.3 deletion syndrome 'chromosome 16p13.3 deletion syndrome' SubClassOf 'Partial deletion of the short arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0022754 chromosome 17p deletion 'chromosome 17p deletion' SubClassOf 'chromosome 17 abnormality' http://purl.obolibrary.org/obo/MONDO_0022756 chromosome 1q deletion 'chromosome 1q deletion' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0022757 chromosome 20 trisomy 'chromosome 20 trisomy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700025 http://purl.obolibrary.org/obo/MONDO_0022759 trisomy 22 'trisomy 22' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700026 http://www.orpha.net/ORDO/Orphanet_2551 Microspherophakia - metaphyseal dysplasia 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'Syndromic developmental defect of the eye' 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'Lens size anomaly' 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'Syndromic developmental defect of the eye' 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'genetic disorder' 'Microspherophakia - metaphyseal dysplasia' SubClassOf 'Lens size anomaly' http://www.orpha.net/ORDO/Orphanet_2556 Microphthalmia with linear skin defects syndrome 'Microphthalmia with linear skin defects syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Microphthalmia with linear skin defects syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://purl.obolibrary.org/obo/MONDO_0019139 acquired hemophilia 'acquired hemophilia' SubClassOf 'hemorrhagic disorder due to a coagulation factors defect' 'acquired hemophilia' SubClassOf 'hemorrhagic disease' http://www.orpha.net/ORDO/Orphanet_2561 Ackerman syndrome 'Ackerman syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Ackerman syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2565 Mononen-Karnes-Senac syndrome 'Mononen-Karnes-Senac syndrome' SubClassOf 'Syndrome with brachydactyly' 'Mononen-Karnes-Senac syndrome' SubClassOf 'congenital limb malformation' 'Mononen-Karnes-Senac syndrome' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_2576 MULIBREY nanism 'MULIBREY nanism' SubClassOf 'Developmental anomaly of metabolic origin' 'MULIBREY nanism' SubClassOf 'Genetic malformation syndrome with short stature' 'MULIBREY nanism' SubClassOf 'disorder of development or morphogenesis' 'MULIBREY nanism' SubClassOf 'Genetic malformation syndrome with short stature' http://www.orpha.net/ORDO/Orphanet_2588 Myhre syndrome 'Myhre syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2515 Microcephaly - cardiomyopathy 'Microcephaly - cardiomyopathy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2511 Microbrachycephaly - ptosis - cleft lip 'Microbrachycephaly - ptosis - cleft lip' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2523 Microcephaly - brain defect - spasticity - hypernatremia 'Microcephaly - brain defect - spasticity - hypernatremia' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly - brain defect - spasticity - hypernatremia' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly - brain defect - spasticity - hypernatremia' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_2522 Microcephaly - cervical spine fusion anomalies 'Microcephaly - cervical spine fusion anomalies' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2521 Microcephaly - cleft palate 'Microcephaly - cleft palate' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2519 Microcephaly - seizures - intellectual disability - heart disease 'Microcephaly - seizures - intellectual disability - heart disease' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2536 Microcornea - glaucoma - absent frontal sinuses 'Microcornea - glaucoma - absent frontal sinuses' SubClassOf 'Syndromic developmental defect of the eye' 'Microcornea - glaucoma - absent frontal sinuses' SubClassOf 'Syndromic developmental defect of the eye' 'Microcornea - glaucoma - absent frontal sinuses' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_2535 Microcornea - corectopia - macular hypoplasia 'Microcornea - corectopia - macular hypoplasia' SubClassOf 'Syndromic developmental defect of the eye' 'Microcornea - corectopia - macular hypoplasia' SubClassOf 'eye disease' 'Microcornea - corectopia - macular hypoplasia' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_2533 Microcephaly - deafness - intellectual disability 'Microcephaly - deafness - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2528 Microcephaly-microcornea syndrome, Seemanova type 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'Syndromic developmental defect of the eye' 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'congenital nervous system disorder' 'Microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_168601 Congenital enteropathy due to enteropeptidase deficiency 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'has modifier' some 'congenital' 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' 'Congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'digestive system disease' http://www.orpha.net/ORDO/Orphanet_83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'metabolic disease with epilepsy' 'Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_83628 PELVIS syndrome 'PELVIS syndrome' SubClassOf 'nervous system neoplasm' 'PELVIS syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' http://www.ebi.ac.uk/efo/EFO_1001333 Glycogen Storage Disease Type 2b 'Glycogen Storage Disease Type 2b' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Glycogen Storage Disease Type 2b' SubClassOf 'Glycogen storage disease with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_83617 Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'congenital nervous system disorder' 'Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis' SubClassOf 'congenital agammaglobulinemia' http://www.orpha.net/ORDO/Orphanet_2804 W syndrome 'W syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2824 Paraplegia - intellectual disability - hyperkeratosis 'Paraplegia - intellectual disability - hyperkeratosis' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_262146 Partial deletion of the long arm of chromosome 18 'Partial deletion of the long arm of chromosome 18' SubClassOf 'chromosomal anomaly with cataract' 'Partial deletion of the long arm of chromosome 18' SubClassOf 'syndromic disease' 'Partial deletion of the long arm of chromosome 18' SubClassOf 'Rare genetic neurological disorder' 'Partial deletion of the long arm of chromosome 18' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' SubClassOf 'Nephropathy secondary to a storage or other metabolic disease' http://www.orpha.net/ORDO/Orphanet_262191 Partial duplication of chromosome 1 'Partial duplication of chromosome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700008 http://www.orpha.net/ORDO/Orphanet_262196 Partial duplication of chromosome 2 'Partial duplication of chromosome 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700009 http://www.orpha.net/ORDO/Orphanet_95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 'Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'has modifier' some 'congenital' http://www.ebi.ac.uk/efo/EFO_1001309 Encephalitis, Tick-Borne 'Encephalitis, Tick-Borne' SubClassOf 'infectious disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_262173 Partial deletion of the long arm of chromosome 21 'Partial deletion of the long arm of chromosome 21' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_240760 Nijmegen breakage syndrome-like disorder 'Nijmegen breakage syndrome-like disorder' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Nijmegen breakage syndrome-like disorder' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome 'multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_2871 Pfeiffer-Palm-Teller syndrome 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2878 Phocomelia - ectrodactyly - deafness - sinus arrhythmia 'Phocomelia - ectrodactyly - deafness - sinus arrhythmia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2875 Phakomatosis pigmentovascularis 'Phakomatosis pigmentovascularis' SubClassOf 'Syndromic developmental defect of the eye' 'Phakomatosis pigmentovascularis' SubClassOf 'Syndromic developmental defect of the eye' 'Phakomatosis pigmentovascularis' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_2872 Cardiocranial syndrome, Pfeiffer type 'Cardiocranial syndrome, Pfeiffer type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2869 Peutz-Jeghers syndrome 'Peutz-Jeghers syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://purl.obolibrary.org/obo/MONDO_0019054 congenital limb malformation 'congenital limb malformation' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_2892 Pilodental dysplasia - refractive errors 'Pilodental dysplasia - refractive errors' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Pilodental dysplasia - refractive errors' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2899 Brachyolmia-amelogenesis imperfecta syndrome 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0020078 acute myeloid leukemia with recurrent genetic anomaly 'acute myeloid leukemia with recurrent genetic anomaly' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia with recurrent genetic anomaly' SubClassOf 'acute myeloid leukemia' http://www.orpha.net/ORDO/Orphanet_2898 X-linked intellectual disability - plagiocephaly 'X-linked intellectual disability - plagiocephaly' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2896 Pitt-Hopkins syndrome 'Pitt-Hopkins syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2855 Perrault syndrome 'Perrault syndrome' SubClassOf 'Syndrome with 46,XX disorder of sex development' 'Perrault syndrome' SubClassOf 'Syndrome with 46,XX disorder of sex development' http://www.orpha.net/ORDO/Orphanet_2854 Fuhrmann syndrome 'Fuhrmann syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Fuhrmann syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_2849 Perlman syndrome 'Perlman syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_2865 Short stature - webbed neck - heart disease 'Short stature - webbed neck - heart disease' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_168984 CLAPO syndrome 'CLAPO syndrome' SubClassOf 'complex vascular malformation with associated anomalies' 'CLAPO syndrome' SubClassOf 'Genetic vascular anomaly' http://www.orpha.net/ORDO/Orphanet_71528 Obesity due to prohormone convertase I deficiency 'Obesity due to prohormone convertase I deficiency' SubClassOf 'Obesity due to congenital leptin resistance' 'Obesity due to prohormone convertase I deficiency' SubClassOf 'Obesity due to congenital leptin resistance' http://www.orpha.net/ORDO/Orphanet_71529 Obesity due to melanocortin 4 receptor deficiency 'Obesity due to melanocortin 4 receptor deficiency' SubClassOf 'Obesity due to congenital leptin resistance' 'Obesity due to melanocortin 4 receptor deficiency' SubClassOf 'Obesity due to congenital leptin resistance' http://www.ebi.ac.uk/efo/EFO_1001442 cardiac tuberculosis 'cardiac tuberculosis' SubClassOf 'Tuberculosis' 'cardiac tuberculosis' SubClassOf 'extrapulmonary tuberculosis' http://www.orpha.net/ORDO/Orphanet_71526 Obesity due to pro-opiomelanocortin deficiency 'Obesity due to pro-opiomelanocortin deficiency' SubClassOf 'Obesity due to congenital leptin resistance' 'Obesity due to pro-opiomelanocortin deficiency' SubClassOf 'Obesity due to congenital leptin resistance' http://www.ebi.ac.uk/efo/EFO_1001452 Yellow Nail Syndrome 'Yellow Nail Syndrome' SubClassOf 'primary interstitial lung disease specific to childhood due to alveolar vascular disorder' http://www.orpha.net/ORDO/Orphanet_2701 Noonan syndrome-like disorder with loose anagen hair 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'Syndromic developmental defect of the eye' 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_264675 Congenital pulmonary alveolar proteinosis 'Congenital pulmonary alveolar proteinosis' SubClassOf 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' 'Congenital pulmonary alveolar proteinosis' SubClassOf 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' http://www.orpha.net/ORDO/Orphanet_2791 Otodental syndrome 'Otodental syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Otodental syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_166272 Goldblatt syndrome 'Goldblatt syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2798 Pachygyria - intellectual disability - epilepsy 'Pachygyria - intellectual disability - epilepsy' SubClassOf 'Cerebral malformation with epilepsy' 'Pachygyria - intellectual disability - epilepsy' SubClassOf 'has modifier' some 'rare' 'Pachygyria - intellectual disability - epilepsy' SubClassOf 'Cerebral malformation with epilepsy' http://www.orpha.net/ORDO/Orphanet_166277 Suarez-Stickler syndrome 'Suarez-Stickler syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2772 Congenital osteogenesis imperfecta - microcephaly - cataracts 'Congenital osteogenesis imperfecta - microcephaly - cataracts' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_2714 Oculo-palato-cerebral syndrome 'Oculo-palato-cerebral syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2710 Oculodentodigital dysplasia 'Oculodentodigital dysplasia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Oculodentodigital dysplasia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2709 Oculodental syndrome, Rutherfurd type 'Oculodental syndrome, Rutherfurd type' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Oculodental syndrome, Rutherfurd type' SubClassOf 'disorder of development or morphogenesis' 'Oculodental syndrome, Rutherfurd type' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2707 Oculocerebrofacial syndrome, Kaufman type 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'Syndromic developmental defect of the eye' 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'congenital nervous system disorder' 'Oculocerebrofacial syndrome, Kaufman type' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_2724 Odontomatosis - aortae esophagus stenosis 'Odontomatosis - aortae esophagus stenosis' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Odontomatosis - aortae esophagus stenosis' SubClassOf 'disorder of development or morphogenesis' 'Odontomatosis - aortae esophagus stenosis' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2722 Odonto-onycho dysplasia - alopecia 'Odonto-onycho dysplasia - alopecia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Odonto-onycho dysplasia - alopecia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2721 Odonto-onycho-dermal dysplasia 'Odonto-onycho-dermal dysplasia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Odonto-onycho-dermal dysplasia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2719 Oculocerebral hypopigmentation syndrome, Cross type 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'Developmental anomaly of metabolic origin' 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'disorder of development or morphogenesis' 'Oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2736 Lethal omphalocele-cleft palate syndrome 'Lethal omphalocele-cleft palate syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2731 Taurodontia - absent teeth - sparse hair 'Taurodontia - absent teeth - sparse hair' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Taurodontia - absent teeth - sparse hair' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2729 Okamoto syndrome 'Okamoto syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2744 Horizontal gaze palsy with progressive scoliosis 'Horizontal gaze palsy with progressive scoliosis' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Horizontal gaze palsy with progressive scoliosis' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Horizontal gaze palsy with progressive scoliosis' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_2743 Ophthalmoplegia - intellectual disability - lingua scrotalis 'Ophthalmoplegia - intellectual disability - lingua scrotalis' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2741 Ophthalmomandibulomelic dysplasia 'Ophthalmomandibulomelic dysplasia' SubClassOf 'Syndromic corneal dystrophy' 'Ophthalmomandibulomelic dysplasia' SubClassOf 'Syndromic developmental defect of the eye' 'Ophthalmomandibulomelic dysplasia' SubClassOf 'genetic disorder' 'Ophthalmomandibulomelic dysplasia' SubClassOf 'Syndromic corneal dystrophy' 'Ophthalmomandibulomelic dysplasia' SubClassOf 'Syndromic developmental defect of the eye' http://www.ebi.ac.uk/efo/EFO_1001115 POEMS syndrome 'POEMS syndrome' SubClassOf 'hematological disease associated with an acquired peripheral neuropathy' 'POEMS syndrome' SubClassOf 'peripheral neuropathy associated with monoclonal gammopathy' 'POEMS syndrome' SubClassOf 'syndromic disease' 'POEMS syndrome' SubClassOf 'paraneoplastic neurologic syndrome' http://www.ebi.ac.uk/efo/EFO_1001114 pneumococcal meningitis 'pneumococcal meningitis' SubClassOf 'infectious disease with epilepsy' http://www.ebi.ac.uk/efo/EFO_1001129 proliferative vitreoretinopathy 'proliferative vitreoretinopathy' SubClassOf 'Vitreoretinal degeneration' http://www.orpha.net/ORDO/Orphanet_2190 Congenital hydronephrosis 'Congenital hydronephrosis' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_97678 Maternal uniparental disomy of chromosome 13 'Maternal uniparental disomy of chromosome 13' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700020 http://www.orpha.net/ORDO/Orphanet_2156 Hirsutism-skeletal dysplasia-intellectual disability syndrome 'Hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2155 Hirschsprung disease - deafness - polydactyly 'Hirschsprung disease - deafness - polydactyly' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2152 Mowat-Wilson syndrome 'Mowat-Wilson syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2166 Holoprosencephaly - postaxial polydactyly 'Holoprosencephaly - postaxial polydactyly' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2163 Holoprosencephaly - craniosynostosis 'Holoprosencephaly - craniosynostosis' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' http://www.orpha.net/ORDO/Orphanet_2162 Holoprosencephaly 'Holoprosencephaly' SubClassOf 'Cerebral malformation with epilepsy' 'Holoprosencephaly' SubClassOf 'Cerebral malformation with epilepsy' http://www.orpha.net/ORDO/Orphanet_2176 Infantile systemic hyalinosis 'Infantile systemic hyalinosis' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Infantile systemic hyalinosis' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_2172 Microcephaly - glomerulonephritis - marfanoid habitus 'Microcephaly - glomerulonephritis - marfanoid habitus' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2189 Hydrolethalus 'Hydrolethalus' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Hydrolethalus' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' http://purl.obolibrary.org/obo/MONDO_0009410 Addison disease 'Addison disease' SubClassOf 'acquired chronic primary adrenal insufficiency' 'Addison disease' SubClassOf 'adrenocortical insufficiency' 'Addison disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2237 Hypoparathyroidism - deafness - renal disease 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'Syndrome with hypoparathyroidism' 'Hypoparathyroidism - deafness - renal disease' SubClassOf 'Syndrome with hypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_2234 Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies 'Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2255 Pancreatic hypoplasia - diabetes - congenital heart disease 'Pancreatic hypoplasia - diabetes - congenital heart disease' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_2261 Hypospadias - intellectual disability, Goldblatt type 'Hypospadias - intellectual disability, Goldblatt type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2213 Hypertelorism-microtia-facial clefting syndrome 'Hypertelorism-microtia-facial clefting syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2228 Hypodontia - dysplasia of nails 'Hypodontia - dysplasia of nails' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Hypodontia - dysplasia of nails' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.ebi.ac.uk/efo/EFO_1001040 meningococcal meningitis 'meningococcal meningitis' SubClassOf 'infectious disease with epilepsy' http://www.ebi.ac.uk/efo/EFO_1001070 ocular tuberculosis 'ocular tuberculosis' SubClassOf 'Tuberculosis' 'ocular tuberculosis' SubClassOf 'extrapulmonary tuberculosis' http://www.ebi.ac.uk/efo/EFO_1001220 trochlear nerve disease 'trochlear nerve disease' SubClassOf 'head disease' http://www.orpha.net/ORDO/Orphanet_2089 Glycogen storage disease due to hepatic glycogen synthase deficiency 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'Glycogen storage disease due to glycogen synthase deficiency' 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'liver disease' 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'Glycogen storage disease' 'Glycogen storage disease due to hepatic glycogen synthase deficiency' SubClassOf 'Glycogen storage disease due to glycogen synthase deficiency' http://www.orpha.net/ORDO/Orphanet_2085 Glaucoma - sleep apnea 'Glaucoma - sleep apnea' SubClassOf 'Syndromic developmental defect of the eye' 'Glaucoma - sleep apnea' SubClassOf 'eye disease' 'Glaucoma - sleep apnea' SubClassOf 'syndromic disease' 'Glaucoma - sleep apnea' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_2083 Prominent glabella - microcephaly - hypogenitalism 'Prominent glabella - microcephaly - hypogenitalism' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2092 Focal dermal hypoplasia 'Focal dermal hypoplasia' SubClassOf 'Syndromic developmental defect of the eye' 'Focal dermal hypoplasia' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_2090 GMS syndrome 'GMS syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'GMS syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://purl.obolibrary.org/obo/MONDO_0000904 complex cortical dysplasia with other brain malformations 'complex cortical dysplasia with other brain malformations' SubClassOf 'cerebral malformation due to abnormal neuronal migration' 'complex cortical dysplasia with other brain malformations' SubClassOf 'brain disease' 'complex cortical dysplasia with other brain malformations' SubClassOf 'Rare genetic neurological disorder' 'complex cortical dysplasia with other brain malformations' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_357332 Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes 'Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_2044 Floating-Harbor syndrome 'Floating-Harbor syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Floating-Harbor syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Floating-Harbor syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2057 Blepharophimosis - ptosis - esotropia - syndactyly - short stature 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'Syndromic developmental defect of the eye' 'Blepharophimosis - ptosis - esotropia - syndactyly - short stature' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_2053 Freeman-Sheldon syndrome 'Freeman-Sheldon syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2052 Fraser syndrome 'Fraser syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Fraser syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Fraser syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2059 Fryns syndrome 'Fryns syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2067 GAPO syndrome 'GAPO syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'GAPO syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'GAPO syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2066 Gamma-aminobutyric acid transaminase deficiency 'Gamma-aminobutyric acid transaminase deficiency' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_2065 Galloway-Mowat syndrome 'Galloway-Mowat syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' http://www.orpha.net/ORDO/Orphanet_2110 Hallux varus - preaxial polysyndactyly 'Hallux varus - preaxial polysyndactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Hallux varus - preaxial polysyndactyly' SubClassOf 'congenital limb malformation' 'Hallux varus - preaxial polysyndactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_2117 Hartsfield-Bixler-Demyer syndrome 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'Rare genetic neurological disorder' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2115 Harrod syndrome 'Harrod syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_262201 Partial duplication of chromosome 3 'Partial duplication of chromosome 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700010 http://www.orpha.net/ORDO/Orphanet_2128 Hemihypertrophy 'Hemihypertrophy' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Hemihypertrophy' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_2124 Cavernous hemangiomas of face - supraumbilical midline raphe 'Cavernous hemangiomas of face - supraumbilical midline raphe' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Cavernous hemangiomas of face - supraumbilical midline raphe' SubClassOf 'genetic disorder' 'Cavernous hemangiomas of face - supraumbilical midline raphe' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_2139 Hernández-Aguirre Negrete syndrome 'Hernández-Aguirre Negrete syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2136 Hennekam syndrome 'Hennekam syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2149 Nodular neuronal heterotopia 'Nodular neuronal heterotopia' SubClassOf 'cerebral malformation due to abnormal neuronal migration' 'Nodular neuronal heterotopia' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009332 congenital hematological disorder 'congenital hematological disorder' SubClassOf 'has modifier' some 'congenital' 'congenital hematological disorder' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 'multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' http://www.orpha.net/ORDO/Orphanet_262206 Partial duplication of chromosome 4 'Partial duplication of chromosome 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700011 http://www.orpha.net/ORDO/Orphanet_2107 Hall-Riggs syndrome 'Hall-Riggs syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_262211 Partial trisomy/tetrasomy of chromosome 5 'Partial trisomy/tetrasomy of chromosome 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700012 'Partial trisomy/tetrasomy of chromosome 5' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 'Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency' SubClassOf 'Methylmalonic acidemia without homocystinuria' 'Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency' SubClassOf 'methylmalonic acidemia' 'Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency' SubClassOf 'Methylmalonic acidemia without homocystinuria' http://www.orpha.net/ORDO/Orphanet_199 Cornelia de Lange syndrome 'Cornelia de Lange syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Cornelia de Lange syndrome' SubClassOf 'congenital nervous system disorder' 'Cornelia de Lange syndrome' SubClassOf 'Genetic malformation syndrome with short stature' http://purl.obolibrary.org/obo/MONDO_0022180 chromosome 16 trisomy 'chromosome 16 trisomy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700023 http://www.orpha.net/ORDO/Orphanet_195 Cat-eye syndrome 'Cat-eye syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Cat-eye syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_191 Cockayne syndrome 'Cockayne syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Cockayne syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Cockayne syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Cockayne syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome 'Intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_357058 Autosomal recessive cutis laxa type 2A 'Autosomal recessive cutis laxa type 2A' SubClassOf 'metabolic disease with epilepsy' 'Autosomal recessive cutis laxa type 2A' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency 'Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency' SubClassOf 'energy metabolism disorder with epilepsy' http://www.orpha.net/ORDO/Orphanet_107 BOR syndrome 'BOR syndrome' SubClassOf 'Otomandibular dysplasia associated with monogenic syndromes' 'BOR syndrome' SubClassOf 'congenital nervous system disorder' 'BOR syndrome' SubClassOf 'Otomandibular dysplasia associated with monogenic syndromes' http://www.orpha.net/ORDO/Orphanet_104 Leber hereditary optic neuropathy 'Leber hereditary optic neuropathy' SubClassOf 'Mitochondrial disease with eye involvement' 'Leber hereditary optic neuropathy' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Leber hereditary optic neuropathy' SubClassOf 'Mitochondrial disease with eye involvement' 'Leber hereditary optic neuropathy' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_100 Ataxia-telangiectasia 'Ataxia-telangiectasia' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Ataxia-telangiectasia' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Ataxia-telangiectasia' SubClassOf 'Developmental anomaly of metabolic origin' 'Ataxia-telangiectasia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ataxia-telangiectasia' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Ataxia-telangiectasia' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Ataxia-telangiectasia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_118 Beta-mannosidosis 'Beta-mannosidosis' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Beta-mannosidosis' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_116 Beckwith-Wiedemann syndrome 'Beckwith-Wiedemann syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_115 Congenital contractural arachnodactyly 'Congenital contractural arachnodactyly' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_113 Bazex-Dupré-Christol syndrome 'Bazex-Dupré-Christol syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Bazex-Dupré-Christol syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Bazex-Dupré-Christol syndrome' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_110 Bardet-Biedl syndrome 'Bardet-Biedl syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Bardet-Biedl syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_109 Bannayan-Riley-Ruvalcaba syndrome 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'complex vascular malformation with associated anomalies' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_127 Borjeson-Forssman-Lehmann syndrome 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_125 Bloom syndrome 'Bloom syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Bloom syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Bloom syndrome' SubClassOf 'disorder of development or morphogenesis' 'Bloom syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Bloom syndrome' SubClassOf 'Genetic malformation syndrome with short stature' http://www.orpha.net/ORDO/Orphanet_139 CHILD syndrome 'CHILD syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'CHILD syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_138 CHARGE syndrome 'CHARGE syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'CHARGE syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation 'Congenital disorder of glycosylation' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_141 Canavan disease 'Canavan disease' SubClassOf 'amino acid or protein metabolism disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_158 Systemic primary carnitine deficiency 'Systemic primary carnitine deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' 'Systemic primary carnitine deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' 'Systemic primary carnitine deficiency' SubClassOf 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_71289 Radio-ulnar synostosis - amegakaryocytic thrombocytopenia 'Radio-ulnar synostosis - amegakaryocytic thrombocytopenia' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_163 Hereditary hyperferritinemia with congenital cataracts 'Hereditary hyperferritinemia with congenital cataracts' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_71278 Congenital brain dysgenesis due to glutamine synthetase deficiency 'Congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0000824 congenital diarrhea 'congenital diarrhea' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_357001 19p13.13 microdeletion syndrome '19p13.13 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_177 Rhizomelic chondrodysplasia punctata 'Rhizomelic chondrodysplasia punctata' SubClassOf 'peroxisomal disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_71267 Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf 'Malformative syndrome with dentinogenesis imperfecta' 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf 'Malformative syndrome with dentinogenesis imperfecta' 'Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_71271 Split hand - split foot - deafness 'Split hand - split foot - deafness' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_71277 Encephalopathy due to GLUT1 deficiency 'Encephalopathy due to GLUT1 deficiency' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_2471 McDonough syndrome 'McDonough syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2479 Megalocornea-intellectual disability syndrome 'Megalocornea-intellectual disability syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Megalocornea-intellectual disability syndrome' SubClassOf 'eye disease' 'Megalocornea-intellectual disability syndrome' SubClassOf 'has modifier' some 'rare' 'Megalocornea-intellectual disability syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_2484 Osteodysplasty, Melnick-Needles type 'Osteodysplasty, Melnick-Needles type' SubClassOf 'Syndromic developmental defect of the eye' 'Osteodysplasty, Melnick-Needles type' SubClassOf 'congenital nervous system disorder' 'Osteodysplasty, Melnick-Needles type' SubClassOf 'Syndromic developmental defect of the eye' 'Osteodysplasty, Melnick-Needles type' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_2489 Upper limb defect - eye and ear abnormalities 'Upper limb defect - eye and ear abnormalities' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2437 Split hand - urinary anomalies - spina bifida 'Split hand - urinary anomalies - spina bifida' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2429 Macrocephaly - spastic paraplegia - dysmorphism 'Macrocephaly - spastic paraplegia - dysmorphism' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_216 Neuronal ceroid lipofuscinosis 'Neuronal ceroid lipofuscinosis' SubClassOf 'lysosomal disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_2463 Marfanoid habitus - intellectual disability, autosomal recessive 'Marfanoid habitus - intellectual disability, autosomal recessive' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2462 Shprintzen-Goldberg syndrome 'Shprintzen-Goldberg syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2461 Marden-Walker syndrome 'Marden-Walker syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_209 Cutis laxa 'Cutis laxa' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Cutis laxa' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_2414 Congenital pulmonary lymphangiectasia 'Congenital pulmonary lymphangiectasia' SubClassOf 'primary interstitial lung disease specific to childhood due to alveolar vascular disorder' 'Congenital pulmonary lymphangiectasia' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_2410 Hypergonadotropic hypogonadism - cataract syndrome 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Hypergonadotropic hypogonadism - cataract syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_2409 Lowry-MacLean syndrome 'Lowry-MacLean syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Lowry-MacLean syndrome' SubClassOf 'congenital nervous system disorder' 'Lowry-MacLean syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Lowry-MacLean syndrome' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_2427 Macrocephaly - short stature - paraplegia 'Macrocephaly - short stature - paraplegia' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010284 Armfield syndrome 'Armfield syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010283 syndromic X-linked intellectual disability Lubs type 'syndromic X-linked intellectual disability Lubs type' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_357175 Short ulna - dysmorphism - hypotonia - intellectual disability 'Short ulna - dysmorphism - hypotonia - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1001006 Klinefelter's syndrome 'Klinefelter's syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700027 http://www.ebi.ac.uk/efo/EFO_1001023 lupus vulgaris 'lupus vulgaris' SubClassOf 'Tuberculosis' 'lupus vulgaris' SubClassOf 'extrapulmonary tuberculosis' http://www.orpha.net/ORDO/Orphanet_2272 Ichthyosis - oral and digital anomalies 'Ichthyosis - oral and digital anomalies' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ichthyosis - oral and digital anomalies' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_2271 Congenital ichthyosis - microcephalus - tetraplegia 'Congenital ichthyosis - microcephalus - tetraplegia' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_2286 Solitary median maxillary central incisor syndrome 'Solitary median maxillary central incisor syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Solitary median maxillary central incisor syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2282 Dysmorphism - short stature - deafness - disorder of sex development 'Dysmorphism - short stature - deafness - disorder of sex development' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2363 Lacrimoauriculodentodigital syndrome 'Lacrimoauriculodentodigital syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Lacrimoauriculodentodigital syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Lacrimoauriculodentodigital syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Lacrimoauriculodentodigital syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2374 Congenital laryngeal web 'Congenital laryngeal web' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_2378 Laurin-Sandrow syndrome 'Laurin-Sandrow syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Laurin-Sandrow syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Laurin-Sandrow syndrome' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_2377 Laurence-Moon syndrome 'Laurence-Moon syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Laurence-Moon syndrome' SubClassOf 'congenital nervous system disorder' 'Laurence-Moon syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_2388 Choreoacanthocytosis 'Choreoacanthocytosis' SubClassOf 'Metabolic disease with dementia' 'Choreoacanthocytosis' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_2316 Johnson neuroectodermal syndrome 'Johnson neuroectodermal syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2315 Johanson-Blizzard syndrome 'Johanson-Blizzard syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Johanson-Blizzard syndrome' SubClassOf 'Genetic malformation syndrome with short stature' http://www.orpha.net/ORDO/Orphanet_2309 Pachyonychia congenita 'Pachyonychia congenita' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Pachyonychia congenita' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_2328 Kapur-Toriello syndrome 'Kapur-Toriello syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2323 Sanjad-Sakati syndrome 'Sanjad-Sakati syndrome' SubClassOf 'Syndrome with hypoparathyroidism' 'Sanjad-Sakati syndrome' SubClassOf 'congenital nervous system disorder' 'Sanjad-Sakati syndrome' SubClassOf 'Syndrome with hypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_2322 Kabuki syndrome 'Kabuki syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Kabuki syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Kabuki syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2332 KBG syndrome 'KBG syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'KBG syndrome' SubClassOf 'congenital nervous system disorder' 'KBG syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2333 Kenny-Caffey syndrome 'Kenny-Caffey syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Kenny-Caffey syndrome' SubClassOf 'Syndrome with hypoparathyroidism' 'Kenny-Caffey syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Kenny-Caffey syndrome' SubClassOf 'Syndrome with hypoparathyroidism' 'Kenny-Caffey syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_2342 Haim-Munk syndrome 'Haim-Munk syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Haim-Munk syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Haim-Munk syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2346 Angioosteohypertrophic syndrome 'Angioosteohypertrophic syndrome' SubClassOf 'complex vascular malformation with associated anomalies' http://purl.obolibrary.org/obo/MONDO_0010122 congenital thrombotic thrombocytopenic purpura 'congenital thrombotic thrombocytopenic purpura' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_48818 Aceruloplasminemia 'Aceruloplasminemia' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Aceruloplasminemia' SubClassOf 'Metabolic disease with pigmentary retinitis' http://purl.obolibrary.org/obo/MONDO_0022177 chromosome 13q trisomy 'chromosome 13q trisomy' SubClassOf 'syndrome caused by partial chromosomal duplication' 'chromosome 13q trisomy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700029 http://purl.obolibrary.org/obo/MONDO_0022174 chromosome 12p deletion 'chromosome 12p deletion' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.orpha.net/ORDO/Orphanet_349 Fucosidosis 'Fucosidosis' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Fucosidosis' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_347 Frasier syndrome 'Frasier syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Frasier syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_217340 17q21.31 microduplication syndrome '17q21.31 microduplication syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_217346 19q13.11 microdeletion syndrome '19q13.11 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_365 Glycogen storage disease due to acid maltase deficiency 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Glycogen storage disease with hypertrophic cardiomyopathy' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Glycogen storage disease due to acid maltase deficiency' SubClassOf 'Glycogen storage disease with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_217377 Microduplication Xp11.22-p11.23 syndrome 'Microduplication Xp11.22-p11.23 syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_379 Chronic granulomatous disease 'Chronic granulomatous disease' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' 'Chronic granulomatous disease' SubClassOf 'secondary interstitial lung disease specific to childhood associated with a granulomatous disease' 'Chronic granulomatous disease' SubClassOf 'Functional neutrophil defect' 'Chronic granulomatous disease' SubClassOf 'Genetic immune deficiency with skin involvement' 'Chronic granulomatous disease' SubClassOf 'inflammatory bowel disease' 'Chronic granulomatous disease' SubClassOf 'congenital hematological disorder' 'Chronic granulomatous disease' SubClassOf 'Functional neutrophil defect' 'Chronic granulomatous disease' SubClassOf 'Genetic immune deficiency with skin involvement' http://www.orpha.net/ORDO/Orphanet_373 Simpson-Golabi-Behmel syndrome 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_382 Guanidinoacetate methyltransferase deficiency 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'Neurometabolic disease' 'Guanidinoacetate methyltransferase deficiency' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_380 Greig cephalopolysyndactyly syndrome 'Greig cephalopolysyndactyly syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Greig cephalopolysyndactyly syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_217399 Congenital insensitivity to pain with hyperhidrosis 'Congenital insensitivity to pain with hyperhidrosis' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_394 Classical homocystinuria 'Classical homocystinuria' SubClassOf 'amino acid or protein metabolism disease with epilepsy' 'Classical homocystinuria' SubClassOf 'Syndromic developmental defect of the eye' 'Classical homocystinuria' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_217385 17p13.3 microduplication syndrome '17p13.3 microduplication syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_268950 Cerebral cortical dysplasia 'Cerebral cortical dysplasia' SubClassOf 'cerebral malformation due to abnormal neuronal migration' http://www.orpha.net/ORDO/Orphanet_414 Gyrate atrophy of choroid and retina 'Gyrate atrophy of choroid and retina' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Gyrate atrophy of choroid and retina' SubClassOf 'Metabolic disease with pigmentary retinitis' http://www.orpha.net/ORDO/Orphanet_407 Glycine encephalopathy 'Glycine encephalopathy' SubClassOf 'amino acid or protein metabolism disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_419 Hyperprolinemia type 1 'Hyperprolinemia type 1' SubClassOf 'amino acid or protein metabolism disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_435 Ito hypomelanosis 'Ito hypomelanosis' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Ito hypomelanosis' SubClassOf 'Neurocutaneous syndrome with epilepsy' http://www.orpha.net/ORDO/Orphanet_447 Paroxysmal nocturnal hemoglobinuria 'Paroxysmal nocturnal hemoglobinuria' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_442 Congenital hypothyroidism 'Congenital hypothyroidism' SubClassOf 'has modifier' some 'congenital' 'Congenital hypothyroidism' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0032913 congenital heart defects, multiple types, 7 'congenital heart defects, multiple types, 7' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_293825 Congenital dyserythropoietic anemia type IV 'Congenital dyserythropoietic anemia type IV' SubClassOf 'congenital anemia' http://purl.obolibrary.org/obo/MONDO_0032925 respiratory papillomatosis, juvenile recurrent, congenital 'respiratory papillomatosis, juvenile recurrent, congenital' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_225 Maternally-inherited diabetes and deafness 'Maternally-inherited diabetes and deafness' SubClassOf 'Mitochondrial disease with eye involvement' 'Maternally-inherited diabetes and deafness' SubClassOf 'Mitochondrial disease with eye involvement' http://www.orpha.net/ORDO/Orphanet_220 Denys-Drash syndrome 'Denys-Drash syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Denys-Drash syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_235 Dubowitz syndrome 'Dubowitz syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Dubowitz syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Dubowitz syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_246 Postaxial acrofacial dysostosis 'Postaxial acrofacial dysostosis' SubClassOf 'Syndromic developmental defect of the eye' 'Postaxial acrofacial dysostosis' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_245 Nager syndrome 'Nager syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Nager syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_257 Epidermolysis bullosa simplex with muscular dystrophy 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Epidermolysis bullosa simplex with muscular dystrophy' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://purl.obolibrary.org/obo/MONDO_0017361 congenital rubella syndrome 'congenital rubella syndrome' SubClassOf 'congenital nervous system disorder' 'congenital rubella syndrome' SubClassOf 'infectious disease with epilepsy' 'congenital rubella syndrome' SubClassOf 'viral infection of central nervous system' 'congenital rubella syndrome' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_288 Hereditary elliptocytosis 'Hereditary elliptocytosis' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' 'Hereditary elliptocytosis' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' http://www.orpha.net/ORDO/Orphanet_280 Wolf-Hirschhorn syndrome 'Wolf-Hirschhorn syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_298 Mitochondrial neurogastrointestinal encephalomyopathy 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'Mitochondrial DNA maintenance syndrome' 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'Mitochondrial disease with eye involvement' 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'Metabolic disease with intestinal involvement' 'Mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'mitochondrial disease with epilepsy' http://purl.obolibrary.org/obo/MONDO_0017398 3MC syndrome '3MC syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_171430 Severe congenital nemaline myopathy 'Severe congenital nemaline myopathy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_171433 Intermediate nemaline myopathy 'Intermediate nemaline myopathy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_171436 Typical nemaline myopathy 'Typical nemaline myopathy' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0005938 congenital left-sided heart lesions 'congenital left-sided heart lesions' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_305 Junctional epidermolysis bullosa 'Junctional epidermolysis bullosa' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Junctional epidermolysis bullosa' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_314 Erythroderma desquamativum 'Erythroderma desquamativum' SubClassOf 'Genetic immune deficiency with skin involvement' 'Erythroderma desquamativum' SubClassOf 'immune system disease' 'Erythroderma desquamativum' SubClassOf 'Genetic immune deficiency with skin involvement' http://www.orpha.net/ORDO/Orphanet_313 Lamellar ichthyosis 'Lamellar ichthyosis' SubClassOf 'ichthyosis' 'Lamellar ichthyosis' SubClassOf 'Inherited non-syndromic ichthyosis' http://www.orpha.net/ORDO/Orphanet_309 Familial partial epilepsy 'Familial partial epilepsy' SubClassOf 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' 'Familial partial epilepsy' SubClassOf 'Channelopathy with epilepsy' 'Familial partial epilepsy' SubClassOf 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' 'Familial partial epilepsy' SubClassOf 'Channelopathy with epilepsy' http://www.orpha.net/ORDO/Orphanet_307 Juvenile myoclonic epilepsy 'Juvenile myoclonic epilepsy' SubClassOf 'movement disorder' http://www.orpha.net/ORDO/Orphanet_306 Benign familial infantile epilepsy 'Benign familial infantile epilepsy' SubClassOf 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' 'Benign familial infantile epilepsy' SubClassOf 'Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes' http://www.orpha.net/ORDO/Orphanet_324 Fabry disease 'Fabry disease' SubClassOf 'lysosomal disease with epilepsy' 'Fabry disease' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Fabry disease' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_317 Erythrokeratodermia variabilis 'Erythrokeratodermia variabilis' SubClassOf 'Inherited non-syndromic ichthyosis' 'Erythrokeratodermia variabilis' SubClassOf 'Inherited non-syndromic ichthyosis' http://www.orpha.net/ORDO/Orphanet_333 Farber lipogranulomatosis 'Farber lipogranulomatosis' SubClassOf 'lysosomal disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_331 Congenital factor XIII deficiency 'Congenital factor XIII deficiency' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_330 Congenital factor XII deficiency 'Congenital factor XII deficiency' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_329 Congenital factor XI deficiency 'Congenital factor XI deficiency' SubClassOf 'congenital hematological disorder' http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_352629 16q24.1 microdeletion syndrome '16q24.1 microdeletion syndrome' SubClassOf 'primary interstitial lung disease specific to childhood due to alveolar vascular disorder' '16q24.1 microdeletion syndrome' SubClassOf 'respiratory system disease' http://www.orpha.net/ORDO/Orphanet_588 Muscle-eye-brain disease 'Muscle-eye-brain disease' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Muscle-eye-brain disease' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_585 Multiple sulfatase deficiency 'Multiple sulfatase deficiency' SubClassOf 'lysosomal disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_581 Mucopolysaccharidosis type 3 'Mucopolysaccharidosis type 3' SubClassOf 'lysosomal disease with epilepsy' http://purl.obolibrary.org/obo/MONDO_0019859 congenital thyroid malformation without hypothyroidism 'congenital thyroid malformation without hypothyroidism' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_598 Multiminicore myopathy 'Multiminicore myopathy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_596 X-linked centronuclear myopathy 'X-linked centronuclear myopathy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_254519 Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect 'Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017264 syndromic recessive X-linked ichthyosis 'syndromic recessive X-linked ichthyosis' SubClassOf 'Metabolic disease with corneal opacity' 'syndromic recessive X-linked ichthyosis' SubClassOf 'Ichthyosis associated with ocular features' 'syndromic recessive X-linked ichthyosis' SubClassOf 'Sterol metabolism disorder' 'syndromic recessive X-linked ichthyosis' SubClassOf 'Rare syndromic dyslipidemia' 'syndromic recessive X-linked ichthyosis' SubClassOf 'X-linked ichthyosis syndrome' 'syndromic recessive X-linked ichthyosis' SubClassOf 'X-linked recessive disease' 'syndromic recessive X-linked ichthyosis' EquivalentTo 'Recessive X-linked ichthyosis' and ('has modifier' some 'has a syndromic presentation') 'syndromic recessive X-linked ichthyosis' SubClassOf 'Inherited non-syndromic ichthyosis' 'syndromic recessive X-linked ichthyosis' SubClassOf 'Syndromic corneal dystrophy' http://www.orpha.net/ORDO/Orphanet_614 Thomsen and Becker disease 'Thomsen and Becker disease' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_634 Netherton syndrome 'Netherton syndrome' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Netherton syndrome' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf 'Agammaglobulinemia' 'Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf 'congenital agammaglobulinemia' http://www.orpha.net/ORDO/Orphanet_627 Nance-Horan syndrome 'Nance-Horan syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Nance-Horan syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_626 Large congenital melanocytic nevus 'Large congenital melanocytic nevus' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_644 NARP syndrome 'NARP syndrome' SubClassOf 'Mitochondrial disease with eye involvement' 'NARP syndrome' SubClassOf 'Metabolic disease with pigmentary retinitis' 'NARP syndrome' SubClassOf 'Mitochondrial disease with eye involvement' 'NARP syndrome' SubClassOf 'Metabolic disease with pigmentary retinitis' http://www.orpha.net/ORDO/Orphanet_636 Neurofibromatosis type 1 'Neurofibromatosis type 1' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Neurofibromatosis type 1' SubClassOf 'Neurocutaneous syndrome with epilepsy' http://www.orpha.net/ORDO/Orphanet_649 Norrie disease 'Norrie disease' SubClassOf 'Syndromic developmental defect of the eye' 'Norrie disease' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_648 Noonan syndrome 'Noonan syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Noonan syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Noonan syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Noonan syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_647 Nijmegen breakage syndrome 'Nijmegen breakage syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Nijmegen breakage syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_663 Maternally-inherited progressive external ophthalmoplegia 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Mitochondrial disease with eye involvement' 'Maternally-inherited progressive external ophthalmoplegia' SubClassOf 'Mitochondrial disease with eye involvement' http://www.orpha.net/ORDO/Orphanet_661 Ondine syndrome 'Ondine syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_678 Papillon-Lefèvre syndrome 'Papillon-Lefèvre syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Papillon-Lefèvre syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Papillon-Lefèvre syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_672 Pallister-Hall syndrome 'Pallister-Hall syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Pallister-Hall syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_669 Otopalatodigital syndrome 'Otopalatodigital syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Otopalatodigital syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_683 Progressive supranuclear palsy 'Progressive supranuclear palsy' SubClassOf 'Genetic dementia' 'Progressive supranuclear palsy' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_217563 Neonatal acute respiratory distress with surfactant metabolism deficiency 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf 'Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies' 'Neonatal acute respiratory distress with surfactant metabolism deficiency' SubClassOf 'Congenital pulmonary alveolar proteinosis' http://www.ebi.ac.uk/efo/EFO_0001064 Down syndrome 'Down syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700124 http://www.ebi.ac.uk/efo/EFO_0001054 leprosy 'leprosy' SubClassOf 'infectious disease with peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_602 Distal myopathy, Nonaka type 'Distal myopathy, Nonaka type' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_352712 Facial dysmorphism - immunodeficiency - livedo - short stature 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'syndrome with combined immunodeficiency' 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'Genetic malformation syndrome with short stature' 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'genetic disorder' 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Facial dysmorphism - immunodeficiency - livedo - short stature' SubClassOf 'Genetic malformation syndrome with short stature' http://www.orpha.net/ORDO/Orphanet_91132 Ichthyosis-hypotrichosis syndrome 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent hair abnormalities' 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'Isolated hair shaft abnormality' 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'Autosomal ichthyosis syndrome with prominent hair abnormalities' http://www.orpha.net/ORDO/Orphanet_91133 Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism 'Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_465 Congenital plasminogen activator inhibitor type 1 deficiency 'Congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_464 Incontinentia pigmenti 'Incontinentia pigmenti' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Incontinentia pigmenti' SubClassOf 'Neurocutaneous syndrome with epilepsy' http://www.orpha.net/ORDO/Orphanet_461 Recessive X-linked ichthyosis 'Recessive X-linked ichthyosis' SubClassOf 'Inherited ichthyosis' 'Recessive X-linked ichthyosis' SubClassOf 'X-linked ichthyosis syndrome' 'Recessive X-linked ichthyosis' SubClassOf 'Inherited ichthyosis' 'Recessive X-linked ichthyosis' SubClassOf 'Inherited ichthyosis syndromic form' http://www.orpha.net/ORDO/Orphanet_487 Krabbe disease 'Krabbe disease' SubClassOf 'lysosomal disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_480 Kearns-Sayre syndrome 'Kearns-Sayre syndrome' SubClassOf 'mitochondrial disease with epilepsy' 'Kearns-Sayre syndrome' SubClassOf 'Mitochondrial disease with eye involvement' 'Kearns-Sayre syndrome' SubClassOf 'Syndrome with hypoparathyroidism' 'Kearns-Sayre syndrome' SubClassOf 'Syndrome with hypoparathyroidism' 'Kearns-Sayre syndrome' SubClassOf 'Mitochondrial disease with eye involvement' http://purl.obolibrary.org/obo/MONDO_0044725 combined immunodeficiency due to GINS1 deficiency 'combined immunodeficiency due to GINS1 deficiency' SubClassOf 'syndrome with combined immunodeficiency' 'combined immunodeficiency due to GINS1 deficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0044724 3-methylglutaconic aciduria type 9 '3-methylglutaconic aciduria type 9' SubClassOf 'amino acid or protein metabolism disease with epilepsy' http://purl.obolibrary.org/obo/MONDO_0044738 Gabriele de Vries syndrome 'Gabriele de Vries syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_502 Langer-Giedion syndrome 'Langer-Giedion syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_512 Metachromatic leukodystrophy 'Metachromatic leukodystrophy' SubClassOf 'lysosomal disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_510 Lesch-Nyhan syndrome 'Lesch-Nyhan syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0032781 congenital hypotonia, epilepsy, developmental delay, and digital anomalies 'congenital hypotonia, epilepsy, developmental delay, and digital anomalies' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_506 Leigh syndrome 'Leigh syndrome' SubClassOf 'Mitochondrial disease with eye involvement' 'Leigh syndrome' SubClassOf 'Mitochondrial disease with eye involvement' http://www.orpha.net/ORDO/Orphanet_534 Oculocerebrorenal syndrome 'Oculocerebrorenal syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Oculocerebrorenal syndrome' SubClassOf 'Developmental anomaly of metabolic origin' 'Oculocerebrorenal syndrome' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Oculocerebrorenal syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Oculocerebrorenal syndrome' SubClassOf 'syndromic disease' 'Oculocerebrorenal syndrome' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_531 Miller-Dieker syndrome 'Miller-Dieker syndrome' SubClassOf 'epilepsy' http://www.orpha.net/ORDO/Orphanet_530 Lipoid proteinosis 'Lipoid proteinosis' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Lipoid proteinosis' SubClassOf 'Developmental anomaly of metabolic origin' 'Lipoid proteinosis' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_528 Berardinelli-Seip congenital lipodystrophy 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'progeroid syndrome' 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'Developmental anomaly of metabolic origin' 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'diabetes mellitus' 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'disorder of development or morphogenesis' 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_551 MERRF 'MERRF' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'MERRF' SubClassOf 'mitochondrial disease with epilepsy' 'MERRF' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'MERRF' SubClassOf 'Mitochondrial disease with eye involvement' 'MERRF' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'MERRF' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'MERRF' SubClassOf 'Mitochondrial disease with eye involvement' http://www.orpha.net/ORDO/Orphanet_550 MELAS 'MELAS' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'MELAS' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'MELAS' SubClassOf 'Mitochondrial disease with eye involvement' 'MELAS' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'MELAS' SubClassOf 'mitochondrial disease with epilepsy' 'MELAS' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'MELAS' SubClassOf 'Mitochondrial disease with dilated cardiomyopathy' 'MELAS' SubClassOf 'Mitochondrial disease with peripheral neuropathy' 'MELAS' SubClassOf 'Mitochondrial disease with eye involvement' 'MELAS' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'MELAS' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' http://www.orpha.net/ORDO/Orphanet_567 22q11.2 deletion syndrome '22q11.2 deletion syndrome' SubClassOf 'Syndrome with hypoparathyroidism' '22q11.2 deletion syndrome' SubClassOf 'Syndrome with hypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_566 Congenital microcoria 'Congenital microcoria' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_565 Menkes disease 'Menkes disease' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Menkes disease' SubClassOf 'metal transport or utilization disorder with epilepsy' 'Menkes disease' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Menkes disease' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_564 Meckel syndrome 'Meckel syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Meckel syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Meckel syndrome' SubClassOf 'nephropathy-associated ciliopathy' 'Meckel syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Meckel syndrome' SubClassOf 'Familial cystic renal disease' 'Meckel syndrome' SubClassOf 'Cerebral disease with cataract' 'Meckel syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Meckel syndrome' SubClassOf 'Syndromic visceral malformation' 'Meckel syndrome' SubClassOf 'Lens shape anomaly' 'Meckel syndrome' SubClassOf 'Orofacial clefting syndrome' 'Meckel syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Meckel syndrome' SubClassOf 'syndromic disease' 'Meckel syndrome' SubClassOf 'Syndromic renal or urinary tract malformation' 'Meckel syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Meckel syndrome' SubClassOf 'Familial cystic renal disease' 'Meckel syndrome' SubClassOf 'ciliopathy' 'Meckel syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Meckel syndrome' SubClassOf 'Cerebral disease with cataract' 'Meckel syndrome' SubClassOf 'Syndromic visceral malformation' 'Meckel syndrome' SubClassOf 'Lens shape anomaly' 'Meckel syndrome' SubClassOf 'Orofacial clefting syndrome' http://www.orpha.net/ORDO/Orphanet_560 Marshall syndrome 'Marshall syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Marshall syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_559 Marinesco-Sjögren syndrome 'Marinesco-Sjögren syndrome' SubClassOf 'Cerebellar ataxia with peripheral neuropathy' 'Marinesco-Sjögren syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Marinesco-Sjögren syndrome' SubClassOf 'Cerebellar ataxia with peripheral neuropathy' 'Marinesco-Sjögren syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_578 Mucolipidosis type IV 'Mucolipidosis type IV' SubClassOf 'lysosomal disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_574 Monosomy 21 'Monosomy 21' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700124 http://purl.obolibrary.org/obo/MONDO_0007631 chromosome 16p12.1 deletion syndrome, 520kb 'chromosome 16p12.1 deletion syndrome, 520kb' SubClassOf 'syndrome caused by partial chromosomal deletion' 'chromosome 16p12.1 deletion syndrome, 520kb' SubClassOf 'Partial deletion of the short arm of chromosome 16' http://www.orpha.net/ORDO/Orphanet_254788 Maternally-inherited mitochondrial myopathy 'Maternally-inherited mitochondrial myopathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Maternally-inherited mitochondrial myopathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Maternally-inherited mitochondrial myopathy' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' http://www.ebi.ac.uk/efo/EFO_1001988 Juvenile Polymyositis 'Juvenile Polymyositis' SubClassOf 'secondary interstitial lung disease specific to childhood associated with a connective tissue disease' http://purl.obolibrary.org/obo/MONDO_0017016 primary interstitial lung disease specific to childhood due to alveolar structure disorder 'primary interstitial lung disease specific to childhood due to alveolar structure disorder' SubClassOf 'primary interstitial lung disease specific to childhood' http://purl.obolibrary.org/obo/MONDO_0017017 primary interstitial lung disease specific to childhood due to alveolar vascular disorder 'primary interstitial lung disease specific to childhood due to alveolar vascular disorder' SubClassOf 'primary interstitial lung disease specific to childhood' http://purl.obolibrary.org/obo/MONDO_0017023 secondary interstitial lung disease specific to childhood associated with a granulomatous disease 'secondary interstitial lung disease specific to childhood associated with a granulomatous disease' SubClassOf 'secondary interstitial lung disease specific to childhood associated with a systemic disease' http://purl.obolibrary.org/obo/MONDO_0017021 secondary interstitial lung disease specific to childhood associated with a connective tissue disease 'secondary interstitial lung disease specific to childhood associated with a connective tissue disease' SubClassOf 'secondary interstitial lung disease specific to childhood associated with a systemic disease' http://www.orpha.net/ORDO/Orphanet_861 Treacher-Collins syndrome 'Treacher-Collins syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Treacher-Collins syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Treacher-Collins syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0001221 NCI-H929 'NCI-H929' SubClassOf 'cancer cell line' http://www.orpha.net/ORDO/Orphanet_7 3C syndrome '3C syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_8 47,XYY syndrome '47,XYY syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700028 http://www.orpha.net/ORDO/Orphanet_5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'Syndrome with hypoparathyroidism' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'Syndrome with hypoparathyroidism' 'Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'Metabolic disease with pigmentary retinitis' http://purl.obolibrary.org/obo/MONDO_0017038 secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis 'secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis' SubClassOf 'secondary interstitial lung disease in childhood and adulthood associated with a systemic disease' http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease 'secondary interstitial lung disease in childhood and adulthood associated with a systemic disease' SubClassOf 'secondary interstitial lung disease in childhood and adulthood' http://purl.obolibrary.org/obo/MONDO_0017037 secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease 'secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease' SubClassOf 'secondary interstitial lung disease in childhood and adulthood associated with a systemic disease' http://www.orpha.net/ORDO/Orphanet_857 Townes-Brocks syndrome 'Townes-Brocks syndrome' SubClassOf 'Otomandibular dysplasia associated with monogenic syndromes' 'Townes-Brocks syndrome' SubClassOf 'congenital nervous system disorder' 'Townes-Brocks syndrome' SubClassOf 'Otomandibular dysplasia associated with monogenic syndromes' http://www.orpha.net/ORDO/Orphanet_9 Tetrasomy X 'Tetrasomy X' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700027 http://www.ebi.ac.uk/efo/EFO_0001219 MM1 'MM1' SubClassOf 'cancer cell line' http://www.orpha.net/ORDO/Orphanet_869 Triple A syndrome 'Triple A syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017043 congenital mesoblastic nephroma 'congenital mesoblastic nephroma' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_868 Triose phosphate-isomerase deficiency 'Triose phosphate-isomerase deficiency' SubClassOf 'energy metabolism disorder with epilepsy' http://purl.obolibrary.org/obo/MONDO_0030037 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 'neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_882 Tyrosinemia type 1 'Tyrosinemia type 1' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Tyrosinemia type 1' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_881 Turner syndrome 'Turner syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Turner syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700027 'Turner syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_893 WAGR syndrome 'WAGR syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_892 Von Hippel-Lindau disease 'Von Hippel-Lindau disease' SubClassOf 'Syndromic developmental defect of the eye' 'Von Hippel-Lindau disease' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0001254 U266 'U266' SubClassOf 'cancer cell line' http://purl.obolibrary.org/obo/MONDO_0044699 SIN3A-related intellectual disability syndrome 'SIN3A-related intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_56304 Atelosteogenesis type II 'Atelosteogenesis type II' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_56305 Atelosteogenesis type III 'Atelosteogenesis type III' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_800 Schwartz-Jampel syndrome 'Schwartz-Jampel syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_811 Shwachman-Diamond syndrome 'Shwachman-Diamond syndrome' SubClassOf 'congenital hematological disorder' http://www.orpha.net/ORDO/Orphanet_821 Sotos syndrome 'Sotos syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Sotos syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_819 Smith-Magenis syndrome 'Smith-Magenis syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_818 Smith-Lemli-Opitz syndrome 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Smith-Lemli-Opitz syndrome' SubClassOf '46,XY disorder of sex development due to cholesterol synthesis defect' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Smith-Lemli-Opitz syndrome' SubClassOf '46,XY disorder of sex development due to cholesterol synthesis defect' 'Smith-Lemli-Opitz syndrome' SubClassOf 'Genetic malformation syndrome with short stature' http://www.orpha.net/ORDO/Orphanet_817 Peeling skin syndrome 'Peeling skin syndrome' SubClassOf 'Inherited non-syndromic ichthyosis' 'Peeling skin syndrome' SubClassOf 'Inherited non-syndromic ichthyosis' http://www.orpha.net/ORDO/Orphanet_816 Sjögren-Larsson syndrome 'Sjögren-Larsson syndrome' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Sjögren-Larsson syndrome' SubClassOf 'Autosomal recessive congenital ichthyosis' 'Sjögren-Larsson syndrome' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Sjögren-Larsson syndrome' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_813 Silver-Russell syndrome 'Silver-Russell syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Silver-Russell syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Silver-Russell syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Silver-Russell syndrome' SubClassOf 'Genetic malformation syndrome with short stature' http://www.orpha.net/ORDO/Orphanet_833 Encephalopathy due to sulfite oxidase deficiency 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'amino acid or protein metabolism disease with epilepsy' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Syndromic developmental defect of the eye' 'Encephalopathy due to sulfite oxidase deficiency' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_828 Stickler syndrome 'Stickler syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Stickler syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_834 Free sialic acid storage disease 'Free sialic acid storage disease' SubClassOf 'lysosomal disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_847 Alpha-thalassemia - X-linked intellectual disability syndrome 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'congenital anemia' http://www.orpha.net/ORDO/Orphanet_313795 Jawad syndrome 'Jawad syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2921 Preaxial polydactyly - colobomata - intellectual disability 'Preaxial polydactyly - colobomata - intellectual disability' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2920 Oliver syndrome 'Oliver syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Oliver syndrome' SubClassOf 'congenital nervous system disorder' 'Oliver syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_2917 Polydactyly-myopia syndrome 'Polydactyly-myopia syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Polydactyly-myopia syndrome' SubClassOf 'syndromic disease' 'Polydactyly-myopia syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_2916 Postaxial polydactyly - dental and vertebral anomalies 'Postaxial polydactyly - dental and vertebral anomalies' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Postaxial polydactyly - dental and vertebral anomalies' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Postaxial polydactyly - dental and vertebral anomalies' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_2935 Crossed polysyndactyly 'Crossed polysyndactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Crossed polysyndactyly' SubClassOf 'congenital limb malformation' 'Crossed polysyndactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_95702 Cytomegalic congenital adrenal hypoplasia 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'adrenocortical insufficiency' 'Cytomegalic congenital adrenal hypoplasia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_276066 Bile acid CoA ligase deficiency and defective amidation 'Bile acid CoA ligase deficiency and defective amidation' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' 'Bile acid CoA ligase deficiency and defective amidation' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' 'Bile acid CoA ligase deficiency and defective amidation' SubClassOf 'Disorder of bile acid synthesis' http://www.orpha.net/ORDO/Orphanet_2900 Leri pleonosteosis 'Leri pleonosteosis' SubClassOf 'Syndrome with synostosis or other joint formation defect' 'Leri pleonosteosis' SubClassOf 'congenital limb malformation' 'Leri pleonosteosis' SubClassOf 'Syndrome with synostosis or other joint formation defect' http://www.orpha.net/ORDO/Orphanet_744 Proteus syndrome 'Proteus syndrome' SubClassOf 'neurovascular disease' 'Proteus syndrome' SubClassOf 'Neurocutaneous syndrome with epilepsy' 'Proteus syndrome' SubClassOf 'complex vascular malformation with associated anomalies' 'Proteus syndrome' SubClassOf 'Neurocutaneous syndrome with epilepsy' http://www.orpha.net/ORDO/Orphanet_740 Hutchinson-Gilford progeria syndrome 'Hutchinson-Gilford progeria syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_755 Leydig cell hypoplasia 'Leydig cell hypoplasia' SubClassOf '46,XY disorder of sex development due to impaired androgen production' 'Leydig cell hypoplasia' SubClassOf 'male infertility' 'Leydig cell hypoplasia' SubClassOf 'endocrine system disease' 'Leydig cell hypoplasia' SubClassOf '46,XY disorder of sex development due to impaired androgen production' http://www.orpha.net/ORDO/Orphanet_765 Pyruvate dehydrogenase deficiency 'Pyruvate dehydrogenase deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Pyruvate dehydrogenase deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_758 Pseudoxanthoma elasticum 'Pseudoxanthoma elasticum' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Pseudoxanthoma elasticum' SubClassOf 'developmental defect during embryogenesis' 'Pseudoxanthoma elasticum' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_776 X-linked intellectual disability with marfanoid habitus 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_774 Hereditary hemorrhagic telangiectasia 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Hereditary hemorrhagic telangiectasia' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://purl.obolibrary.org/obo/MONDO_0020587 factor XI deficiency 'factor XI deficiency' SubClassOf 'congenital hematological disorder' http://purl.obolibrary.org/obo/MONDO_0020583 chromosome 17 abnormality 'chromosome 17 abnormality' SubClassOf 'Chromosomal anomaly' 'chromosome 17 abnormality' SubClassOf 'Autosomal anomaly' http://www.orpha.net/ORDO/Orphanet_783 Rubinstein-Taybi syndrome 'Rubinstein-Taybi syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Rubinstein-Taybi syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Rubinstein-Taybi syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Rubinstein-Taybi syndrome' SubClassOf 'congenital nervous system disorder' 'Rubinstein-Taybi syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Rubinstein-Taybi syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Rubinstein-Taybi syndrome' SubClassOf 'Genetic malformation syndrome with short stature' http://www.orpha.net/ORDO/Orphanet_782 Axenfeld-Rieger syndrome 'Axenfeld-Rieger syndrome' SubClassOf 'neurocristopathy' http://www.orpha.net/ORDO/Orphanet_799 Schizencephaly 'Schizencephaly' SubClassOf 'Cerebral malformation with epilepsy' 'Schizencephaly' SubClassOf 'Cerebral malformation with epilepsy' http://www.orpha.net/ORDO/Orphanet_798 Schinzel-Giedion syndrome 'Schinzel-Giedion syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Schinzel-Giedion syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_794 Saethre-Chotzen syndrome 'Saethre-Chotzen syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Saethre-Chotzen syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_171839 Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis 'Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' http://www.orpha.net/ORDO/Orphanet_2956 Prata-Liberal-Goncalves syndrome 'Prata-Liberal-Goncalves syndrome' SubClassOf 'Syndrome with brachydactyly' 'Prata-Liberal-Goncalves syndrome' SubClassOf 'dysostosis' 'Prata-Liberal-Goncalves syndrome' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_2951 Absent thumb - short stature - immunodeficiency 'Absent thumb - short stature - immunodeficiency' SubClassOf 'syndrome with combined immunodeficiency' 'Absent thumb - short stature - immunodeficiency' SubClassOf 'Primary immunodeficiency due to a defect in adaptive immunity' http://www.orpha.net/ORDO/Orphanet_2950 Triphalangeal thumb - polysyndactyly syndrome 'Triphalangeal thumb - polysyndactyly syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Triphalangeal thumb - polysyndactyly syndrome' SubClassOf 'congenital limb malformation' 'Triphalangeal thumb - polysyndactyly syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_2947 Triphalangeal thumbs - brachyectrodactyly 'Triphalangeal thumbs - brachyectrodactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Triphalangeal thumbs - brachyectrodactyly' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Triphalangeal thumbs - brachyectrodactyly' SubClassOf 'congenital limb malformation' http://www.orpha.net/ORDO/Orphanet_2966 Properdin deficiency 'Properdin deficiency' SubClassOf 'immunodeficiency due to a complement regulatory deficiency' 'Properdin deficiency' SubClassOf 'primary immunodeficiency disease' 'Properdin deficiency' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' http://www.orpha.net/ORDO/Orphanet_2959 Progéria - short stature - pigmented nevi 'Progéria - short stature - pigmented nevi' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Progéria - short stature - pigmented nevi' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_2957 Guttmacher syndrome 'Guttmacher syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Guttmacher syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_709 Peters plus syndrome 'Peters plus syndrome' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Peters plus syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Peters plus syndrome' SubClassOf 'syndromic disease' 'Peters plus syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Peters plus syndrome' SubClassOf 'eye disease' http://www.orpha.net/ORDO/Orphanet_708 Peters anomaly 'Peters anomaly' SubClassOf 'Corneoiridogoniodysgenesis' 'Peters anomaly' SubClassOf 'Corneoiridogoniodysgenesis' http://www.orpha.net/ORDO/Orphanet_2975 46,XX disorder of sex development - skeletal anomalies '46,XX disorder of sex development - skeletal anomalies' SubClassOf 'Syndrome with 46,XX disorder of sex development' '46,XX disorder of sex development - skeletal anomalies' SubClassOf 'Genetic 46,XX disorder of sex development' '46,XX disorder of sex development - skeletal anomalies' SubClassOf 'Syndrome with 46,XX disorder of sex development' http://www.orpha.net/ORDO/Orphanet_2973 46,XX disorder of sex development - anorectal anomalies '46,XX disorder of sex development - anorectal anomalies' SubClassOf 'Syndrome with 46,XX disorder of sex development' '46,XX disorder of sex development - anorectal anomalies' SubClassOf 'Genetic 46,XX disorder of sex development' '46,XX disorder of sex development - anorectal anomalies' SubClassOf 'Syndrome with 46,XX disorder of sex development' http://www.orpha.net/ORDO/Orphanet_2972 Non-eruption of teeth - maxillary hypoplasia - genu valgum 'Non-eruption of teeth - maxillary hypoplasia - genu valgum' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Non-eruption of teeth - maxillary hypoplasia - genu valgum' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Non-eruption of teeth - maxillary hypoplasia - genu valgum' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_2971 Peroxisomal acyl-CoA oxidase deficiency 'Peroxisomal acyl-CoA oxidase deficiency' SubClassOf 'peroxisomal disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_716 Phenylketonuria 'Phenylketonuria' SubClassOf 'amino acid or protein metabolism disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Cerebral organic aciduria' 'Glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_2980 Acro-oto-ocular syndrome 'Acro-oto-ocular syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Acro-oto-ocular syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_2988 Pterygium colli - intellectual disability - digital anomalies 'Pterygium colli - intellectual disability - digital anomalies' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_2985 Pseudoprogeria syndrome 'Pseudoprogeria syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_93473 Hurler syndrome 'Hurler syndrome' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Hurler syndrome' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_93476 Hurler-Scheie syndrome 'Hurler-Scheie syndrome' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' 'Hurler-Scheie syndrome' SubClassOf 'Lysosomal disease with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_93402 Syndactyly type 1 'Syndactyly type 1' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Syndactyly type 1' SubClassOf 'Partial duplication of the long arm of chromosome 2' http://www.orpha.net/ORDO/Orphanet_168572 Native American myopathy 'Native American myopathy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_168558 46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'Genetic chronic primary adrenal insufficiency' '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'Genetic chronic primary adrenal insufficiency' '46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'adrenal gland disease' http://www.orpha.net/ORDO/Orphanet_93338 Polysyndactyly 'Polysyndactyly' SubClassOf 'non-syndromic synpolydactyly' http://www.orpha.net/ORDO/Orphanet_325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency 'Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency 'Classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0010946 hypertrophic cardiomyopathy 6 'hypertrophic cardiomyopathy 6' SubClassOf 'familial hypertrophic cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_1001868 congenital contractures of the limbs and face, hypotonia, and developmental delay 'congenital contractures of the limbs and face, hypotonia, and developmental delay' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_276249 Xeroderma pigmentosum complementation group A 'Xeroderma pigmentosum complementation group A' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' http://www.orpha.net/ORDO/Orphanet_276234 Non-syndromic male infertility due to sperm motility disorder 'Non-syndromic male infertility due to sperm motility disorder' EquivalentTo 'Male infertility due to sperm motility disorder' and ('has modifier' some 'has an isolated presentation') 'Non-syndromic male infertility due to sperm motility disorder' SubClassOf 'Male infertility due to sperm motility disorder' 'Non-syndromic male infertility due to sperm motility disorder' EquivalentTo 'male infertility' and ('has modifier' some 'has an isolated presentation') 'Non-syndromic male infertility due to sperm motility disorder' SubClassOf 'male infertility' 'Non-syndromic male infertility due to sperm motility disorder' SubClassOf 'Male infertility due to sperm motility disorder' http://www.orpha.net/ORDO/Orphanet_93387 Brachydactyly type E 'Brachydactyly type E' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type E' SubClassOf 'brachydactyly' 'Brachydactyly type E' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_93384 Brachydactyly type C 'Brachydactyly type C' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type C' SubClassOf 'brachydactyly' 'Brachydactyly type C' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_93383 Brachydactyly type B 'Brachydactyly type B' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type B' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type B' SubClassOf 'brachydactyly' http://www.orpha.net/ORDO/Orphanet_93382 Brachydactyly type A6 'Brachydactyly type A6' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type A6' SubClassOf 'brachydactyly' 'Brachydactyly type A6' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_93389 Brachydactyly type A5 'Brachydactyly type A5' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type A5' SubClassOf 'brachydactyly' 'Brachydactyly type A5' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_93388 Brachydactyly type A1 'Brachydactyly type A1' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type A1' SubClassOf 'brachydactyly' 'Brachydactyly type A1' SubClassOf 'Syndrome with brachydactyly' http://www.ebi.ac.uk/efo/EFO_1001897 Morvan syndrome 'Morvan syndrome' SubClassOf 'inflammatory and autoimmune disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_93397 Brachydactyly type A7 'Brachydactyly type A7' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type A7' SubClassOf 'brachydactyly' 'Brachydactyly type A7' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_93396 Brachydactyly type A2 'Brachydactyly type A2' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type A2' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_93395 Ballard syndrome 'Ballard syndrome' SubClassOf 'Syndrome with brachydactyly' 'Ballard syndrome' SubClassOf 'Syndrome with brachydactyly' 'Ballard syndrome' SubClassOf 'brachydactyly' http://www.orpha.net/ORDO/Orphanet_93394 Brachydactyly type A4 'Brachydactyly type A4' SubClassOf 'Syndrome with brachydactyly' 'Brachydactyly type A4' SubClassOf 'brachydactyly' 'Brachydactyly type A4' SubClassOf 'Syndrome with brachydactyly' http://purl.obolibrary.org/obo/MONDO_0044303 congenital heart defects and ectodermal dysplasia 'congenital heart defects and ectodermal dysplasia' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_254807 Multiple mitochondrial DNA deletion syndrome 'Multiple mitochondrial DNA deletion syndrome' SubClassOf 'Mitochondrial DNA maintenance syndrome' 'Multiple mitochondrial DNA deletion syndrome' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'Multiple mitochondrial DNA deletion syndrome' SubClassOf 'Mitochondrial DNA maintenance syndrome' http://www.orpha.net/ORDO/Orphanet_978 ADULT syndrome 'ADULT syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'ADULT syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_977 Adrenomyodystrophy 'Adrenomyodystrophy' SubClassOf 'Genetic chronic primary adrenal insufficiency' 'Adrenomyodystrophy' SubClassOf 'adrenal gland disease' 'Adrenomyodystrophy' SubClassOf 'Genetic chronic primary adrenal insufficiency' http://www.orpha.net/ORDO/Orphanet_254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' 'Mitochondrial oxidative phosphorylation disorder with no known mechanism' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' http://www.orpha.net/ORDO/Orphanet_991 PAGOD syndrome 'PAGOD syndrome' SubClassOf 'Syndrome with 46,XX disorder of sex development' 'PAGOD syndrome' SubClassOf 'Syndrome with 46,XX disorder of sex development' http://www.orpha.net/ORDO/Orphanet_990 Agnathia - holoprosencephaly - situs inversus 'Agnathia - holoprosencephaly - situs inversus' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 'intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_254851 Maternally-inherited mitochondrial dystonia 'Maternally-inherited mitochondrial dystonia' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Maternally-inherited mitochondrial dystonia' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA' 'Maternally-inherited mitochondrial dystonia' SubClassOf 'Mitochondrial oxidative phosphorylation disorder' http://www.ebi.ac.uk/efo/EFO_0001378 multiple myeloma 'multiple myeloma' SubClassOf 'hematological disease associated with an acquired peripheral neuropathy' 'multiple myeloma' SubClassOf 'immune system cancer' http://purl.obolibrary.org/obo/MONDO_0019386 progressive rubella panencephalitis 'progressive rubella panencephalitis' SubClassOf 'infectious disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_910 Xeroderma pigmentosum 'Xeroderma pigmentosum' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Xeroderma pigmentosum' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Xeroderma pigmentosum' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Xeroderma pigmentosum' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Xeroderma pigmentosum' SubClassOf 'DNA repair deficiency' 'Xeroderma pigmentosum' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_909 Cerebrotendinous xanthomatosis 'Cerebrotendinous xanthomatosis' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' 'Cerebrotendinous xanthomatosis' SubClassOf 'lysosomal disease with epilepsy' 'Cerebrotendinous xanthomatosis' SubClassOf 'Bile acid synthesis defect with cholestasis and malabsorption' http://www.orpha.net/ORDO/Orphanet_908 Fragile X syndrome 'Fragile X syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_906 Wiskott-Aldrich syndrome 'Wiskott-Aldrich syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Wiskott-Aldrich syndrome' SubClassOf 'Inherited cancer-predisposing syndrome' 'Wiskott-Aldrich syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_905 Wilson disease 'Wilson disease' SubClassOf 'metal transport or utilization disorder with epilepsy' http://www.orpha.net/ORDO/Orphanet_904 Williams syndrome 'Williams syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Williams syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Williams syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Williams syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_902 Werner syndrome 'Werner syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Werner syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Werner syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Werner syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_920 Ablepharon macrostomia syndrome 'Ablepharon macrostomia syndrome' SubClassOf 'Syndromic developmental defect of the eye' 'Ablepharon macrostomia syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_916 Aase-Smith syndrome 'Aase-Smith syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome 'Zellweger syndrome' SubClassOf 'peroxisomal disease with epilepsy' 'Zellweger syndrome' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Zellweger syndrome' SubClassOf 'Metabolic disease with pigmentary retinitis' http://www.orpha.net/ORDO/Orphanet_943 Malonic aciduria 'Malonic aciduria' SubClassOf 'Metabolic disease due to other fatty acid oxidation disorder' 'Malonic aciduria' SubClassOf 'Metabolic disease due to other fatty acid oxidation disorder' http://www.orpha.net/ORDO/Orphanet_957 Acropectorovertebral dysplasia 'Acropectorovertebral dysplasia' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Acropectorovertebral dysplasia' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_956 Acro-pectoro-renal dysplasia 'Acro-pectoro-renal dysplasia' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Acro-pectoro-renal dysplasia' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://purl.obolibrary.org/obo/MONDO_0015659 infectious disease with epilepsy 'infectious disease with epilepsy' SubClassOf 'epilepsy' 'infectious disease with epilepsy' SubClassOf 'central nervous system infection' http://purl.obolibrary.org/obo/MONDO_0015657 inflammatory and autoimmune disease with epilepsy 'inflammatory and autoimmune disease with epilepsy' SubClassOf 'has modifier' some 'rare' 'inflammatory and autoimmune disease with epilepsy' SubClassOf 'disease has major feature' some 'epilepsy' 'inflammatory and autoimmune disease with epilepsy' SubClassOf 'epilepsy' http://www.orpha.net/ORDO/Orphanet_137631 Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf 'Syndrome with 46,XX disorder of sex development' 'Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis' SubClassOf 'Syndrome with 46,XX disorder of sex development' http://www.orpha.net/ORDO/Orphanet_137658 Microcephaly - intellectual disability - phalangeal and neurological anomalies 'Microcephaly - intellectual disability - phalangeal and neurological anomalies' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_137608 Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'complex vascular malformation with associated anomalies' http://www.orpha.net/ORDO/Orphanet_52368 Mohr-Tranebjaerg syndrome 'Mohr-Tranebjaerg syndrome' SubClassOf 'Mitochondrial disease with eye involvement' 'Mohr-Tranebjaerg syndrome' SubClassOf 'Mitochondrial disease with eye involvement' http://www.orpha.net/ORDO/Orphanet_137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'Glycogen storage disease with hypertrophic cardiomyopathy' 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'Glycogen storage disease due to glycogen synthase deficiency' 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'Glycogen storage disease with hypertrophic cardiomyopathy' 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'Glycogen storage disease due to glycogen synthase deficiency' 'Glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'Glycogen storage disease' http://www.ebi.ac.uk/efo/EFO_0006530 5T33MM '5T33MM' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006552 CMA-03 'CMA-03' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006572 EJM 'EJM' SubClassOf 'cancer cell line' http://purl.obolibrary.org/obo/MONDO_0040500 glycosylphosphatidylinositol biosynthesis defect 16 'glycosylphosphatidylinositol biosynthesis defect 16' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0003569 cranial nerve neuropathy 'cranial nerve neuropathy' SubClassOf 'head disease' http://purl.obolibrary.org/obo/MONDO_0015572 cerebral malformation due to abnormal neuronal migration 'cerebral malformation due to abnormal neuronal migration' SubClassOf 'Cerebral malformation with epilepsy' http://purl.obolibrary.org/obo/FBbt_00005665 embryonic central brain neuron 'embryonic central brain neuron' SubClassOf 'part_of' some 'embryonic central brain' http://www.orpha.net/ORDO/Orphanet_231013 Congenital trigeminal anesthesia 'Congenital trigeminal anesthesia' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis 'Anti-neutrophil cytoplasmic antibody-associated vasculitis' SubClassOf 'secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis' http://www.orpha.net/ORDO/Orphanet_52503 X-linked creatine transporter deficiency 'X-linked creatine transporter deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'X-linked creatine transporter deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'X-linked creatine transporter deficiency' SubClassOf 'Neurometabolic disease' 'X-linked creatine transporter deficiency' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_137898 Leukoencephalopathy with brain stem and spinal cord involvement - high lactate 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'Leukoencephalopathy with brain stem and spinal cord involvement - high lactate' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.ebi.ac.uk/efo/EFO_0006716 OPM-2 'OPM-2' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006738 plasmacytoma 'plasmacytoma' SubClassOf 'hematological disease associated with an acquired peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0003546 third cranial nerve disease 'third cranial nerve disease' SubClassOf 'head disease' http://purl.obolibrary.org/obo/MONDO_0017956 mixed autoinflammatory and autoimmune syndrome 'mixed autoinflammatory and autoimmune syndrome' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0017985 congenital radioulnar synostosis 'congenital radioulnar synostosis' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0042968 partial duplication of chromosome 12 'partial duplication of chromosome 12' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700019 http://purl.obolibrary.org/obo/MONDO_0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'mixed autoinflammatory and autoimmune syndrome' 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'autoinflammatory syndrome' http://www.orpha.net/ORDO/Orphanet_269528 Syndrome with microcephaly as major feature 'Syndrome with microcephaly as major feature' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Syndrome with microcephaly as major feature' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Syndrome with microcephaly as major feature' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_52429 Branchio-otic syndrome 'Branchio-otic syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0006613 KMS-12-PE 'KMS-12-PE' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006612 KMS-12-BM 'KMS-12-BM' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006611 KMM-1 'KMM-1' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006617 KMS-28BM 'KMS-28BM' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006616 KMS-27 'KMS-27' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006615 KMS-26 'KMS-26' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006614 KMS-21-BM 'KMS-21-BM' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006619 KMS-34 'KMS-34' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006618 KMS-28PE 'KMS-28PE' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006609 KHM-1B 'KHM-1B' SubClassOf 'cancer cell line' http://www.orpha.net/ORDO/Orphanet_353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion 'Rubinstein-Taybi syndrome due to 16p13.3 microdeletion' SubClassOf 'Partial deletion of the short arm of chromosome 16' http://www.ebi.ac.uk/efo/EFO_0006653 MOLP-2 'MOLP-2' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0006654 MOLP-8 'MOLP-8' SubClassOf 'cancer cell line' http://www.orpha.net/ORDO/Orphanet_231249 Hemoglobin E - beta-thalassemia 'Hemoglobin E - beta-thalassemia' SubClassOf 'Beta-thalassemia associated with another hemoglobin anomaly' 'Hemoglobin E - beta-thalassemia' SubClassOf 'Beta-thalassemia associated with another hemoglobin anomaly' 'Hemoglobin E - beta-thalassemia' SubClassOf 'Beta-thalassemia and related diseases' http://www.orpha.net/ORDO/Orphanet_231242 Hemoglobin C - beta-thalassemia 'Hemoglobin C - beta-thalassemia' SubClassOf 'Beta-thalassemia associated with another hemoglobin anomaly' 'Hemoglobin C - beta-thalassemia' SubClassOf 'Beta-thalassemia associated with another hemoglobin anomaly' 'Hemoglobin C - beta-thalassemia' SubClassOf 'Beta-thalassemia and related diseases' http://www.orpha.net/ORDO/Orphanet_91489 Isolated congenital megalocornea 'Isolated congenital megalocornea' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_91494 Macular coloboma - cleft palate - hallux valgus 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'Syndromic developmental defect of the eye' 'Macular coloboma - cleft palate - hallux valgus' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_91490 Isolated congenital sclerocornea 'Isolated congenital sclerocornea' SubClassOf 'corneal disease' http://www.orpha.net/ORDO/Orphanet_91491 Congenital ectropion uveae 'Congenital ectropion uveae' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_91498 Familial congenital palsy of trochlear nerve 'Familial congenital palsy of trochlear nerve' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0054865 encephalopathy due to mitochondrial and peroxisomal fission defect 'encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies' http://www.orpha.net/ORDO/Orphanet_231237 Delta-beta-thalassemia 'Delta-beta-thalassemia' SubClassOf 'Beta-thalassemia associated with another hemoglobin anomaly' 'Delta-beta-thalassemia' SubClassOf 'Beta-thalassemia associated with another hemoglobin anomaly' 'Delta-beta-thalassemia' SubClassOf 'Beta-thalassemia and related diseases' http://purl.obolibrary.org/obo/MONDO_0030912 intellectual disability, autosomal dominant 47 'intellectual disability, autosomal dominant 47' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_280133 Complement component 3 deficiency 'Complement component 3 deficiency' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' http://www.orpha.net/ORDO/Orphanet_231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700018 http://www.orpha.net/ORDO/Orphanet_91358 Congenital esophageal diverticulum 'Congenital esophageal diverticulum' SubClassOf 'has modifier' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0015133 quantitative and/or qualitative congenital phagocyte defect 'quantitative and/or qualitative congenital phagocyte defect' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_280071 ALG11-CDG 'ALG11-CDG' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'ALG11-CDG' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_101960 Genetic chronic primary adrenal insufficiency 'Genetic chronic primary adrenal insufficiency' SubClassOf 'adrenocortical insufficiency' http://www.orpha.net/ORDO/Orphanet_280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness 'Familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'generalised epilepsy' http://www.orpha.net/ORDO/Orphanet_206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'Neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_280325 Distal monosomy 12p 'Distal monosomy 12p' SubClassOf 'chromosome 12p deletion' http://www.orpha.net/ORDO/Orphanet_280333 Autosomal recessive limb-girdle muscular dystrophy type 2P 'Autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_66630 Congenital pseudoarthrosis of clavicle 'Congenital pseudoarthrosis of clavicle' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_66629 Goldberg-Shprintzen megacolon syndrome 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_66625 Cerebro-oculo-nasal syndrome 'Cerebro-oculo-nasal syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Cerebro-oculo-nasal syndrome' SubClassOf 'congenital nervous system disorder' 'Cerebro-oculo-nasal syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' http://purl.obolibrary.org/obo/GO_0005575 cellular component 'cellular component' SubClassOf 'specimen' 'cellular component' SubClassOf 'material entity' http://www.orpha.net/ORDO/Orphanet_314034 7p22.1 microduplication syndrome '7p22.1 microduplication syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_52055 Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'Syndromic developmental defect of the eye' 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'congenital nervous system disorder' 'Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_52056 Ulnar/fibula ray defect - brachydactyly 'Ulnar/fibula ray defect - brachydactyly' SubClassOf 'Syndrome with brachydactyly' 'Ulnar/fibula ray defect - brachydactyly' SubClassOf 'congenital limb malformation' 'Ulnar/fibula ray defect - brachydactyly' SubClassOf 'Syndrome with brachydactyly' http://www.orpha.net/ORDO/Orphanet_139396 X-linked cerebral adrenoleukodystrophy 'X-linked cerebral adrenoleukodystrophy' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'X-linked cerebral adrenoleukodystrophy' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_284160 8q21.11 microdeletion syndrome '8q21.11 microdeletion syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_284180 Xp22.13p22.2 duplication syndrome 'Xp22.13p22.2 duplication syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_262767 Partial trisomy of the short arm of chromosome 9 'Partial trisomy of the short arm of chromosome 9' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_284149 Craniosynostosis and dental anomalies 'Craniosynostosis and dental anomalies' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Craniosynostosis and dental anomalies' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_98568 Congenital entropion 'Congenital entropion' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_247198 Progressive cerebello-cerebral atrophy 'Progressive cerebello-cerebral atrophy' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Progressive cerebello-cerebral atrophy' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Progressive cerebello-cerebral atrophy' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_98570 Congenital ectropion 'Congenital ectropion' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_331190 Immunodeficiency due to ficolin3 deficiency 'Immunodeficiency due to ficolin3 deficiency' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' http://www.orpha.net/ORDO/Orphanet_331187 Immunodeficiency due to MASP-2 deficiency 'Immunodeficiency due to MASP-2 deficiency' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' http://www.orpha.net/ORDO/Orphanet_262682 Partial trisomy/tetrasomy of chromosome 18 'Partial trisomy/tetrasomy of chromosome 18' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700125 'Partial trisomy/tetrasomy of chromosome 18' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_262687 Partial duplication of chromosome 19 'Partial duplication of chromosome 19' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700024 http://www.orpha.net/ORDO/Orphanet_262672 Partial duplication of chromosome 16 'Partial duplication of chromosome 16' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700023 http://www.orpha.net/ORDO/Orphanet_262677 Partial duplication of chromosome 17 'Partial duplication of chromosome 17' SubClassOf 'chromosome 17 abnormality' http://www.orpha.net/ORDO/Orphanet_262648 Partial duplication of chromosome 10 'Partial duplication of chromosome 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700017 http://www.orpha.net/ORDO/Orphanet_262653 Partial duplication of chromosome 11 'Partial duplication of chromosome 11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700018 http://www.orpha.net/ORDO/Orphanet_369837 Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome 'Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_262692 Partial trisomy of chromosome 20 'Partial trisomy of chromosome 20' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700025 http://purl.obolibrary.org/obo/MONDO_0011213 Pierpont syndrome 'Pierpont syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_262638 Partial duplication of chromosome 8 'Partial duplication of chromosome 8' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700015 http://www.orpha.net/ORDO/Orphanet_331226 Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency 'Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency' SubClassOf 'Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency' 'Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency' SubClassOf 'Genetic susceptibility to infections due to particular pathogens' http://www.orpha.net/ORDO/Orphanet_262643 Partial trisomy/tetrasomy of chromosome 9 'Partial trisomy/tetrasomy of chromosome 9' SubClassOf 'syndrome caused by partial chromosomal duplication' 'Partial trisomy/tetrasomy of chromosome 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700016 http://www.orpha.net/ORDO/Orphanet_262628 Partial duplication of chromosome 6 'Partial duplication of chromosome 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700013 http://www.orpha.net/ORDO/Orphanet_262633 Partial duplication of chromosome 7 'Partial duplication of chromosome 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700014 http://www.orpha.net/ORDO/Orphanet_35122 Congenital sucrase-isomaltase deficiency 'Congenital sucrase-isomaltase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' 'Congenital sucrase-isomaltase deficiency' SubClassOf 'has modifier' some 'congenital' 'Congenital sucrase-isomaltase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' http://www.orpha.net/ORDO/Orphanet_35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' 'Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder' http://www.ebi.ac.uk/efo/EFO_0008598 autoimmune bullous skin disease 'autoimmune bullous skin disease' SubClassOf 'autoimmune disease with skin involvement' 'autoimmune bullous skin disease' SubClassOf 'autoimmune disease with skin involvement' http://www.orpha.net/ORDO/Orphanet_59135 Laing early-onset distal myopathy 'Laing early-onset distal myopathy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700022 http://www.orpha.net/ORDO/Orphanet_98724 congenital anomaly of the great arteries 'congenital anomaly of the great arteries' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_98733 Noonan syndrome and Noonan-related syndrome 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_2008 Acro-cardio-facial syndrome 'Acro-cardio-facial syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_96175 Ring chromosome 11 'Ring chromosome 11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700018 http://www.orpha.net/ORDO/Orphanet_96176 Ring chromosome 13 'Ring chromosome 13' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700020 http://www.orpha.net/ORDO/Orphanet_96177 Ring chromosome 15 'Ring chromosome 15' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700022 http://www.orpha.net/ORDO/Orphanet_96178 Ring chromosome 16 'Ring chromosome 16' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700023 http://www.orpha.net/ORDO/Orphanet_96179 Maternal uniparental disomy of chromosome 2 'Maternal uniparental disomy of chromosome 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700009 http://www.orpha.net/ORDO/Orphanet_96171 Ring chromosome 2 'Ring chromosome 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700009 http://www.orpha.net/ORDO/Orphanet_96172 Ring chromosome 3 'Ring chromosome 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700010 http://www.orpha.net/ORDO/Orphanet_96173 Ring chromosome 9 'Ring chromosome 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700016 http://www.orpha.net/ORDO/Orphanet_2010 Cleft palate - stapes fixation - oligodontia 'Cleft palate - stapes fixation - oligodontia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Cleft palate - stapes fixation - oligodontia' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Cleft palate - stapes fixation - oligodontia' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_2015 Cleft palate - short stature - vertebral anomalies 'Cleft palate - short stature - vertebral anomalies' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_96185 Maternal uniparental disomy of chromosome 16 'Maternal uniparental disomy of chromosome 16' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700023 http://www.orpha.net/ORDO/Orphanet_96186 Maternal uniparental disomy of chromosome 20 'Maternal uniparental disomy of chromosome 20' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700025 http://www.orpha.net/ORDO/Orphanet_96187 Maternal uniparental disomy of chromosome 21 'Maternal uniparental disomy of chromosome 21' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700124 http://www.orpha.net/ORDO/Orphanet_96188 Maternal uniparental disomy of chromosome 22 'Maternal uniparental disomy of chromosome 22' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700026 http://www.orpha.net/ORDO/Orphanet_96180 Maternal uniparental disomy of chromosome 4 'Maternal uniparental disomy of chromosome 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700011 http://www.orpha.net/ORDO/Orphanet_96181 Maternal uniparental disomy of chromosome 6 'Maternal uniparental disomy of chromosome 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700013 http://www.orpha.net/ORDO/Orphanet_96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 'Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700014 http://www.orpha.net/ORDO/Orphanet_96183 Maternal uniparental disomy of chromosome 9 'Maternal uniparental disomy of chromosome 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700016 http://www.orpha.net/ORDO/Orphanet_96184 Maternal uniparental disomy of chromosome 14 'Maternal uniparental disomy of chromosome 14' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700021 http://www.orpha.net/ORDO/Orphanet_2028 Juvenile hyaline fibromatosis 'Juvenile hyaline fibromatosis' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Juvenile hyaline fibromatosis' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2027 Gingival fibromatosis - progressive deafness 'Gingival fibromatosis - progressive deafness' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Gingival fibromatosis - progressive deafness' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2026 Gingival fibromatosis-hypertrichosis syndrome 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_2025 Gingival fibromatosis - facial dysmorphism 'Gingival fibromatosis - facial dysmorphism' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' 'Gingival fibromatosis - facial dysmorphism' SubClassOf 'Genetic malformation syndrome with odontal and/or periodontal component' http://www.orpha.net/ORDO/Orphanet_96190 Paternal uniparental disomy of chromosome 5 'Paternal uniparental disomy of chromosome 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700012 http://www.orpha.net/ORDO/Orphanet_96191 Paternal uniparental disomy of chromosome 6 'Paternal uniparental disomy of chromosome 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700013 http://www.orpha.net/ORDO/Orphanet_96192 Paternal uniparental disomy of chromosome 7 'Paternal uniparental disomy of chromosome 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700014 http://www.orpha.net/ORDO/Orphanet_96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700018 http://www.orpha.net/ORDO/Orphanet_96194 Paternal uniparental disomy of chromosome 20 'Paternal uniparental disomy of chromosome 20' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700025 http://www.orpha.net/ORDO/Orphanet_96195 Paternal uniparental disomy of chromosome 21 'Paternal uniparental disomy of chromosome 21' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700124 http://www.orpha.net/ORDO/Orphanet_96123 Monosomy 22 'Monosomy 22' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700026 http://www.orpha.net/ORDO/Orphanet_98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700022 http://www.orpha.net/ORDO/Orphanet_250972 Polymicrogyria with optic nerve hypoplasia 'Polymicrogyria with optic nerve hypoplasia' SubClassOf 'Cerebral malformation with epilepsy' http://purl.obolibrary.org/obo/MONDO_0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 'facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_250977 AICA-ribosiduria 'AICA-ribosiduria' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'AICA-ribosiduria' SubClassOf 'congenital nervous system disorder' 'AICA-ribosiduria' SubClassOf 'syndromic intellectual disability' 'AICA-ribosiduria' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' http://www.ebi.ac.uk/efo/EFO_0008510 Lyme disease 'Lyme disease' SubClassOf 'infectious disease with peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_262977 Partial trisomy of the long arm of chromosome 18 'Partial trisomy of the long arm of chromosome 18' SubClassOf 'syndrome caused by partial chromosomal duplication' http://purl.obolibrary.org/obo/MONDO_0011153 hyperinsulinemic hypoglycemia, familial, 2 'hyperinsulinemic hypoglycemia, familial, 2' SubClassOf 'hyperinsulinemic hypoglycemia' http://www.orpha.net/ORDO/Orphanet_404448 ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder 'ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_404443 Tall stature-intellectual disability-facial dysmorphism syndrome 'Tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_404440 Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 'Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'Cerebral malformation with epilepsy' 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'syndromic disease' 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'Cerebral malformation with epilepsy' 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'Genetic neurodegenerative disease' 'Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome' SubClassOf 'Syndrome with microcephaly as major feature' http://www.orpha.net/ORDO/Orphanet_139450 Microtia - eye coloboma - imperforation of the nasolacrimal duct 'Microtia - eye coloboma - imperforation of the nasolacrimal duct' SubClassOf 'Syndromic developmental defect of the eye' 'Microtia - eye coloboma - imperforation of the nasolacrimal duct' SubClassOf 'Genetic developmental defect of the eye' 'Microtia - eye coloboma - imperforation of the nasolacrimal duct' SubClassOf 'Syndromic developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_262905 Partial trisomy of the long arm of chromosome 9 'Partial trisomy of the long arm of chromosome 9' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_404473 Severe intellectual disability-progressive spastic diplegia syndrome 'Severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_139466 SERKAL syndrome 'SERKAL syndrome' SubClassOf 'Syndrome with 46,XX disorder of sex development' 'SERKAL syndrome' SubClassOf 'Syndrome with 46,XX disorder of sex development' http://www.orpha.net/ORDO/Orphanet_404466 Female infertility due to zona pellucida defect 'Female infertility due to zona pellucida defect' SubClassOf 'Female infertility due to fertilization defect' 'Female infertility due to zona pellucida defect' SubClassOf 'female infertility' 'Female infertility due to zona pellucida defect' SubClassOf 'Female infertility due to fertilization defect' http://www.orpha.net/ORDO/Orphanet_404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_98634 Iridogoniodysgenesis 'Iridogoniodysgenesis' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' 'Iridogoniodysgenesis' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' http://www.orpha.net/ORDO/Orphanet_98633 Goniodysgenesis 'Goniodysgenesis' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' 'Goniodysgenesis' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' 'Goniodysgenesis' SubClassOf 'Secondary dysgenetic glaucoma' http://www.orpha.net/ORDO/Orphanet_98636 Corneoiridogoniodysgenesis 'Corneoiridogoniodysgenesis' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' 'Corneoiridogoniodysgenesis' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' 'Corneoiridogoniodysgenesis' SubClassOf 'Secondary dysgenetic glaucoma' http://www.orpha.net/ORDO/Orphanet_98635 Corneogoniodysgenesis 'Corneogoniodysgenesis' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' 'Corneogoniodysgenesis' SubClassOf 'corneal disease' 'Corneogoniodysgenesis' SubClassOf 'Glaucoma associated with neural crest cell migration anomaly' http://www.orpha.net/ORDO/Orphanet_60041 Congenital heart block 'Congenital heart block' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_60040 Megalencephaly-capillary malformation-polymicrogyria syndrome 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_98604 Congenital alacrima 'Congenital alacrima' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_139406 Encephalopathy due to prosaposin deficiency 'Encephalopathy due to prosaposin deficiency' SubClassOf 'lysosomal disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_96055 Tetrasomy 21 'Tetrasomy 21' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700124 http://www.orpha.net/ORDO/Orphanet_96059 Mosaic trisomy 4 'Mosaic trisomy 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700011 http://www.orpha.net/ORDO/Orphanet_96060 Mosaic trisomy 5 'Mosaic trisomy 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700012 http://www.orpha.net/ORDO/Orphanet_247262 Hyperphosphatasia-intellectual disability syndrome 'Hyperphosphatasia-intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_96063 Mosaic trisomy 10 'Mosaic trisomy 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700017 http://www.orpha.net/ORDO/Orphanet_98669 Congenital vitreoretinal dysplasia 'Congenital vitreoretinal dysplasia' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_98686 Congenital trochlear nerve palsy 'Congenital trochlear nerve palsy' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_84064 Syndromic diarrhea 'Syndromic diarrhea' SubClassOf 'Immune dysregulation disease with immunodeficiency' http://www.orpha.net/ORDO/Orphanet_262869 Partial trisomy of the long arm of chromosome 5 'Partial trisomy of the long arm of chromosome 5' SubClassOf 'syndrome caused by partial chromosomal duplication' http://www.orpha.net/ORDO/Orphanet_96097 Distal trisomy 5q 'Distal trisomy 5q' SubClassOf 'Partial duplication of the long arm of chromosome 4' http://www.orpha.net/ORDO/Orphanet_308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form 'Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 'Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' SubClassOf 'Syndrome with microcephaly as major feature' 'Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' SubClassOf 'Syndrome with microcephaly as major feature' 'Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' SubClassOf 'central nervous system disease' http://www.orpha.net/ORDO/Orphanet_221016 Rothmund-Thomson syndrome type 2 'Rothmund-Thomson syndrome type 2' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'Rothmund-Thomson syndrome type 2' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://www.orpha.net/ORDO/Orphanet_306504 Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'primary interstitial lung disease specific to childhood due to alveolar structure disorder' 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'has modifier' some 'congenital' 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'primary interstitial lung disease specific to childhood' http://www.orpha.net/ORDO/Orphanet_64753 Spinocerebellar ataxia with axonal neuropathy type 2 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' http://www.orpha.net/ORDO/Orphanet_306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_306550 FADD-related immunodeficiency 'FADD-related immunodeficiency' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'FADD-related immunodeficiency' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'FADD-related immunodeficiency' SubClassOf 'immunodeficiency disease' http://www.orpha.net/ORDO/Orphanet_306527 Isolated hereditary congenital facial paralysis 'Isolated hereditary congenital facial paralysis' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0001563 vestibulocochlear nerve disease 'vestibulocochlear nerve disease' SubClassOf 'head disease' http://purl.obolibrary.org/obo/MONDO_0013578 DYRK1A-related intellectual disability syndrome 'DYRK1A-related intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_247522 Primary ciliary dyskinesia - retinitis pigmentosa 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'RPGR retinopathy' 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'Syndromic retinitis pigmentosa' 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'respiratory system disease' 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'Syndromic retinitis pigmentosa' http://www.orpha.net/ORDO/Orphanet_37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'Immunodeficiency syndrome with autoimmunity' 'Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'Immunodeficiency syndrome with autoimmunity' http://www.orpha.net/ORDO/Orphanet_101068 Congenital stromal corneal dystrophy 'Congenital stromal corneal dystrophy' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_88642 Channelopathy-associated congenital insensitivity to pain 'Channelopathy-associated congenital insensitivity to pain' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_284408 Glycerol kinase deficiency, infantile form 'Glycerol kinase deficiency, infantile form' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' 'Glycerol kinase deficiency, infantile form' SubClassOf 'Syndromic neurometabolic disease with X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013415 chromosome 17p13.1 deletion syndrome 'chromosome 17p13.1 deletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' 'chromosome 17p13.1 deletion syndrome' SubClassOf 'chromosome 17p deletion' http://www.ebi.ac.uk/efo/EFO_0006348 pulmonary artery-aorta diameter ratio measurement 'pulmonary artery-aorta diameter ratio measurement' SubClassOf 'cardiovascular measurement' 'pulmonary artery-aorta diameter ratio measurement' SubClassOf http://www.ebi.ac.uk/efo/EFO_0020865 http://www.orpha.net/ORDO/Orphanet_247820 Ectodermal dysplasia - syndactyly syndrome 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf 'syndactyly' 'Ectodermal dysplasia - syndactyly syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_140997 Orofaciodigital syndrome 'Orofaciodigital syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Orofaciodigital syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' http://www.orpha.net/ORDO/Orphanet_369891 Cardiac anomalies-developmental delay-facial dysmorphism syndrome 'Cardiac anomalies-developmental delay-facial dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_369894 Early infantile epileptic encephalopathy without suppression burst 'Early infantile epileptic encephalopathy without suppression burst' SubClassOf 'Monogenic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_86309 DPAGT1-CDG 'DPAGT1-CDG' SubClassOf 'metabolic disease with epilepsy' 'DPAGT1-CDG' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_369913 Combined oxidative phosphorylation defect type 17 'Combined oxidative phosphorylation defect type 17' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' 'Combined oxidative phosphorylation defect type 17' SubClassOf 'Mitochondrial disease with hypertrophic cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_370927 SSR4-CDG 'SSR4-CDG' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_370921 STT3A-CDG 'STT3A-CDG' SubClassOf 'metabolic disease with epilepsy' 'STT3A-CDG' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_370924 STT3B-CDG 'STT3B-CDG' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' 'STT3B-CDG' SubClassOf 'metabolic disease with epilepsy' http://www.orpha.net/ORDO/Orphanet_98365 Hereditary stomatocytosis 'Hereditary stomatocytosis' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' 'Hereditary stomatocytosis' SubClassOf 'Rare constitutional hemolytic anemia due to a red cell membrane anomaly' http://www.orpha.net/ORDO/Orphanet_370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'metabolic disease with epilepsy' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_370930 XYLT1-CDG 'XYLT1-CDG' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_369950 Intellectual disability-seizures-macrocephaly-obesity syndrome 'Intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_370968 Congenital muscular dystrophy with intellectual disability 'Congenital muscular dystrophy with intellectual disability' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://www.orpha.net/ORDO/Orphanet_370959 Congenital muscular dystrophy with cerebellar involvement 'Congenital muscular dystrophy with cerebellar involvement' SubClassOf 'Syndromic neurometabolic disease with non-X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015928 secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease 'secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease' SubClassOf 'secondary interstitial lung disease in childhood and adulthood associated with a systemic disease' http://www.orpha.net/ORDO/Orphanet_369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome 'Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome' SubClassOf 'Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy' 'Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_282124 Partial deletion of chromosome 12 'Partial deletion of chromosome 12' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700019 http://www.orpha.net/ORDO/Orphanet_369902 Orofaciodigital syndrome type 14 'Orofaciodigital syndrome type 14' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_221126 Fowler syndrome 'Fowler syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Fowler syndrome' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Fowler syndrome' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_221120 Pseudoaminopterin syndrome 'Pseudoaminopterin syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_221150 Pitt-Hopkins-like syndrome 'Pitt-Hopkins-like syndrome' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_98249 Ehlers-Danlos syndrome 'Ehlers-Danlos syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' 'Ehlers-Danlos syndrome' SubClassOf 'developmental defect during embryogenesis' 'Ehlers-Danlos syndrome' SubClassOf 'Malformation syndrome with skin/mucosae involvement' http://www.orpha.net/ORDO/Orphanet_140944 CLOVE syndrome 'CLOVE syndrome' SubClassOf 'complex vascular malformation with associated anomalies' http://www.orpha.net/ORDO/Orphanet_101351 Familial isolated congenital asplenia 'Familial isolated congenital asplenia' SubClassOf 'has modifier' some 'congenital' http://www.orpha.net/ORDO/Orphanet_294016 Microcephaly-capillary malformation syndrome 'Microcephaly-capillary malformation syndrome' SubClassOf 'Syndrome with microcephaly as major feature' 'Microcephaly-capillary malformation syndrome' SubClassOf 'syndromic disease' 'Microcephaly-capillary malformation syndrome' SubClassOf 'Syndrome with microcephaly as major feature' http://purl.obolibrary.org/obo/MONDO_0003832 complement deficiency 'complement deficiency' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' 'complement deficiency' SubClassOf 'primary immunodeficiency disease' http://www.orpha.net/ORDO/Orphanet_103909 Diarrhea-vomiting due to trehalase deficiency 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf 'Metabolic disease with intestinal involvement' 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' 'Diarrhea-vomiting due to trehalase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' http://www.orpha.net/ORDO/Orphanet_103907 Chronic diarrhea due to glucoamylase deficiency 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'Metabolic disease with intestinal involvement' 'Chronic diarrhea due to glucoamylase deficiency' SubClassOf 'Congenital intestinal disease due to an enzymatic defect' http://www.orpha.net/ORDO/Orphanet_306498 PTEN hamartoma tumor syndrome 'PTEN hamartoma tumor syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' 'PTEN hamartoma tumor syndrome' SubClassOf 'Polymalformative genetic syndrome with increased risk of developing cancer' http://purl.obolibrary.org/obo/HP_0004439 Craniofacial dysostosis 'Craniofacial dysostosis' SubClassOf 'Abnormality of the face' 'Craniofacial dysostosis' SubClassOf 'Abnormal skull morphology' http://purl.obolibrary.org/obo/HP_0002335 Agenesis of cerebellar vermis 'Agenesis of cerebellar vermis' SubClassOf 'Aplasia/Hypoplasia of the cerebellum' http://purl.obolibrary.org/obo/HP_0002282 Gray matter heterotopia 'Gray matter heterotopia' SubClassOf 'Abnormality of neuronal migration' http://purl.obolibrary.org/obo/MONDO_0031439 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0000519 Developmental cataract 'Developmental cataract' SubClassOf 'Abnormality of the lens' 'Developmental cataract' SubClassOf 'Ocular anterior segment dysgenesis' http://www.ebi.ac.uk/efo/EFO_0020858 spastic paraplegia 84, autosomal recessive 'spastic paraplegia 84, autosomal recessive' SubClassOf 'Hereditary spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0020859 bombay phenotype 'bombay phenotype' SubClassOf 'blood group' http://purl.obolibrary.org/obo/HP_0000815 Hypergonadotropic hypogonadism 'Hypergonadotropic hypogonadism' SubClassOf 'Abnormality of the genital system' 'Hypergonadotropic hypogonadism' SubClassOf 'Abnormality of the endocrine system' http://purl.obolibrary.org/obo/HP_0000824 Decreased response to growth hormone stimulation test 'Decreased response to growth hormone stimulation test' SubClassOf 'Abnormal circulating hormone concentration' 'Decreased response to growth hormone stimulation test' SubClassOf 'Abnormality of brain morphology' http://www.ebi.ac.uk/efo/EFO_0020863 major adverse cardiovascular event measurement 'major adverse cardiovascular event measurement' SubClassOf 'cardiovascular event measurement' http://www.ebi.ac.uk/efo/EFO_0020864 cerebellar volume measurement 'cerebellar volume measurement' SubClassOf 'brain volume measurement' http://www.ebi.ac.uk/efo/EFO_0020865 aortic measurement 'aortic measurement' EquivalentTo 'measurement' and (('part_of' some 'aorta') or ('is_about' some 'aorta')) 'aortic measurement' SubClassOf 'cardiovascular measurement' http://www.ebi.ac.uk/efo/EFO_0020860 soluble CD14 measurement 'soluble CD14 measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0020861 ANGPTL8 measurement 'ANGPTL8 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0020862 response to verapamil 'response to verapamil' SubClassOf 'response to calcium channel blocker' http://purl.obolibrary.org/obo/HP_0009804 Tooth agenesis 'Tooth agenesis' SubClassOf 'Abnormality of the dentition' http://purl.obolibrary.org/obo/HP_0007404 Nonepidermolytic palmoplantar hyperkeratosis 'Nonepidermolytic palmoplantar hyperkeratosis' SubClassOf 'Abnormal foot morphology' 'Nonepidermolytic palmoplantar hyperkeratosis' SubClassOf 'Epidermal thickening' 'Nonepidermolytic palmoplantar hyperkeratosis' SubClassOf 'Abnormality of the upper limb' http://purl.obolibrary.org/obo/MONDO_0034024 kyphoscoliotic Ehlers-Danlos syndrome 'kyphoscoliotic Ehlers-Danlos syndrome' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0034022 Bethlem myopathy 2 'Bethlem myopathy 2' SubClassOf 'Ehlers-Danlos syndrome' 'Bethlem myopathy 2' SubClassOf 'Bethlem myopathy' http://purl.obolibrary.org/obo/MONDO_0700124 chromosome 21 disorder 'chromosome 21 disorder' SubClassOf 'Autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700125 chromosome 18 disorder 'chromosome 18 disorder' SubClassOf 'Autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700120 BAFopathy 'BAFopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0700087 Usher syndrome type 1B 'Usher syndrome type 1B' SubClassOf 'Usher syndrome type 1' http://purl.obolibrary.org/obo/MONDO_0700031 mosaic trisomy 18 'mosaic trisomy 18' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 18' EquivalentTo 'Trisomy 18' and ('has modifier' some 'mosaic') 'mosaic trisomy 18' SubClassOf 'Trisomy 18' http://purl.obolibrary.org/obo/MONDO_0700034 mosaic trisomy 13 'mosaic trisomy 13' EquivalentTo 'Trisomy 13' and ('has modifier' some 'mosaic') 'mosaic trisomy 13' SubClassOf 'Trisomy 13' 'mosaic trisomy 13' SubClassOf 'has modifier' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0700029 partial duplication of chromosome 13 'partial duplication of chromosome 13' SubClassOf 'syndrome caused by partial chromosomal duplication' 'partial duplication of chromosome 13' SubClassOf 'chromosome 13 disorder' http://purl.obolibrary.org/obo/MONDO_0700028 chromosome Y disorder 'chromosome Y disorder' SubClassOf 'Gonosome anomaly' http://purl.obolibrary.org/obo/MONDO_0700025 chromosome 20 disorder 'chromosome 20 disorder' SubClassOf 'Autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700024 chromosome 19 disorder 'chromosome 19 disorder' SubClassOf 'Autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700027 chromosome X disorder 'chromosome X disorder' SubClassOf 'Gonosome anomaly' http://purl.obolibrary.org/obo/MONDO_0700026 chromosome 22 disorder 'chromosome 22 disorder' SubClassOf 'Autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700021 chromosome 14 disorder 'chromosome 14 disorder' SubClassOf 'Autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700020 chromosome 13 disorder 'chromosome 13 disorder' SubClassOf 'Autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700023 chromosome 16 disorder 'chromosome 16 disorder' SubClassOf 'Autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700022 chromosome 15 disorder 'chromosome 15 disorder' SubClassOf 'Autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700018 chromosome 11 disorder 'chromosome 11 disorder' SubClassOf 'Autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700017 chromosome 10 disorder 'chromosome 10 disorder' SubClassOf 'Autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700019 chromosome 12 disorder 'chromosome 12 disorder' SubClassOf 'Autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700014 chromosome 7 disorder 'chromosome 7 disorder' SubClassOf 'Autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700013 chromosome 6 disorder 'chromosome 6 disorder' SubClassOf 'Autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700016 chromosome 9 disorder 'chromosome 9 disorder' SubClassOf 'Autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700015 chromosome 8 disorder 'chromosome 8 disorder' SubClassOf 'Autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700010 chromosome 3 disorder 'chromosome 3 disorder' SubClassOf 'Autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700012 chromosome 5 disorder 'chromosome 5 disorder' SubClassOf 'Autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700011 chromosome 4 disorder 'chromosome 4 disorder' SubClassOf 'Autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700009 chromosome 2 disorder 'chromosome 2 disorder' SubClassOf 'Autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0700008 chromosome 1 disorder 'chromosome 1 disorder' SubClassOf 'Autosomal anomaly' http://www.ebi.ac.uk/EFO/EFO_0020882 lactate change measurement 'lactate change measurement' SubClassOf 'lactate measurement' http://www.ebi.ac.uk/EFO/EFO_0020881 glucose change measurement 'glucose change measurement' SubClassOf 'glucose measurement' http://www.ebi.ac.uk/EFO/EFO_0020884 alanine change measurement 'alanine change measurement' SubClassOf 'alanine measurement' http://www.ebi.ac.uk/EFO/EFO_0020883 citrate change measurement 'citrate change measurement' SubClassOf 'citrate measurement' http://www.ebi.ac.uk/EFO/EFO_0020880 polyunsaturated fatty acid change measurement 'polyunsaturated fatty acid change measurement' SubClassOf 'polyunsaturated fatty acid measurement' http://www.ebi.ac.uk/EFO/EFO_0020889 valine change measurement 'valine change measurement' SubClassOf 'valine measurement' http://www.ebi.ac.uk/EFO/EFO_0020886 histidine change measurement 'histidine change measurement' SubClassOf 'histidine measurement' http://www.ebi.ac.uk/EFO/EFO_0020885 glutamine change measurement 'glutamine change measurement' SubClassOf 'glutamine measurement' http://www.ebi.ac.uk/EFO/EFO_0020888 leucine change measurement 'leucine change measurement' SubClassOf 'leucine measurement' http://www.ebi.ac.uk/EFO/EFO_0020887 isoleucine change measurement 'isoleucine change measurement' SubClassOf 'isoleucine measurement' http://www.ebi.ac.uk/EFO/EFO_0020871 phosphatidylcholine change measurement 'phosphatidylcholine change measurement' SubClassOf 'phosphatidylcholine measurement' http://www.ebi.ac.uk/EFO/EFO_0020870 choline change measurement 'choline change measurement' SubClassOf 'choline measurement' http://www.ebi.ac.uk/EFO/EFO_0020873 apolipoprotein A 1 change measurement 'apolipoprotein A 1 change measurement' SubClassOf 'apolipoprotein A 1 measurement' http://www.ebi.ac.uk/EFO/EFO_0020872 sphingomyelin change measurement 'sphingomyelin change measurement' SubClassOf 'sphingomyelin measurement' http://www.ebi.ac.uk/EFO/EFO_0020879 omega-6 polyunsaturated fatty acid change measurement 'omega-6 polyunsaturated fatty acid change measurement' SubClassOf 'omega-6 polyunsaturated fatty acid measurement' http://www.ebi.ac.uk/EFO/EFO_0020878 omega-3 polyunsaturated fatty acid change measurement 'omega-3 polyunsaturated fatty acid change measurement' SubClassOf 'omega-3 polyunsaturated fatty acid measurement' http://www.ebi.ac.uk/EFO/EFO_0020875 fatty acid change measurement 'fatty acid change measurement' SubClassOf 'fatty acid measurement' http://www.ebi.ac.uk/EFO/EFO_0020874 apolipoprotein B change measurement 'apolipoprotein B change measurement' SubClassOf 'apolipoprotein B measurement' http://www.ebi.ac.uk/EFO/EFO_0020877 linoleic acid change measurement 'linoleic acid change measurement' SubClassOf 'linoleic acid measurement' http://www.ebi.ac.uk/EFO/EFO_0020876 docosahexaenoic acid change measurement 'docosahexaenoic acid change measurement' SubClassOf 'docosahexaenoic acid measurement' http://www.ebi.ac.uk/EFO/EFO_0020893 3-hydroxybutyrate change measurement '3-hydroxybutyrate change measurement' SubClassOf '3-hydroxybutyrate measurement' http://www.ebi.ac.uk/EFO/EFO_0020892 acetate change measurement 'acetate change measurement' SubClassOf 'acetate measurement' http://www.ebi.ac.uk/EFO/EFO_0020895 serum albumin change measurement 'serum albumin change measurement' SubClassOf 'serum albumin measurement' http://www.ebi.ac.uk/EFO/EFO_0020894 creatinine change measurement 'creatinine change measurement' SubClassOf 'creatinine measurement' http://www.ebi.ac.uk/EFO/EFO_0020891 tyrosine change measurement 'tyrosine change measurement' SubClassOf 'tyrosine measurement' http://www.ebi.ac.uk/EFO/EFO_0020890 phenylalanine change measurement 'phenylalanine change measurement' SubClassOf 'phenylalanine measurement' http://www.ebi.ac.uk/EFO/EFO_0020896 glycoprotein change measurement 'glycoprotein change measurement' SubClassOf 'glycoprotein measurement' http://www.ebi.ac.uk/efo/EFO_0030075 cDNA microarray 'cDNA microarray' SubClassOf 'DNA array' http://www.ebi.ac.uk/efo/EFO_0030076 methylation-specific microarray 'methylation-specific microarray' SubClassOf 'oligonucleotide DNA microarray' http://www.ebi.ac.uk/efo/EFO_0030074 SORT-seq 'SORT-seq' SubClassOf 'CEL-seq2' http://purl.obolibrary.org/obo/MONDO_0014618 retinitis pigmentosa 71 'retinitis pigmentosa 71' SubClassOf 'Retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0014654 Ullrich congenital muscular dystrophy 2 'Ullrich congenital muscular dystrophy 2' SubClassOf 'Congenital muscular dystrophy, Ullrich type' http://www.ebi.ac.uk/EFO/EFO_0020860 phospholipid change measurement 'phospholipid change measurement' SubClassOf 'phospholipid measurement' http://www.ebi.ac.uk/EFO/EFO_0020862 free cholesterol change measurement 'free cholesterol change measurement' SubClassOf 'free cholesterol measurement' http://www.ebi.ac.uk/EFO/EFO_0020861 esterified cholesterol change measurement 'esterified cholesterol change measurement' SubClassOf 'esterified cholesterol measurement' http://www.ebi.ac.uk/EFO/EFO_0020868 diglyceride change measurement 'diglyceride change measurement' SubClassOf 'diglyceride measurement' http://www.ebi.ac.uk/EFO/EFO_0020867 remnant cholesterol change measurement 'remnant cholesterol change measurement' SubClassOf 'remnant cholesterol measurement' http://www.ebi.ac.uk/EFO/EFO_0020869 glycerophospholipid change measurement 'glycerophospholipid change measurement' SubClassOf 'glycerophospholipid measurement' http://purl.obolibrary.org/obo/MONDO_0014661 epidermolysis bullosa simplex with nail dystrophy 'epidermolysis bullosa simplex with nail dystrophy' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/EFO/EFO_0020864 very low density lipoprotein particle size change measurement 'very low density lipoprotein particle size change measurement' SubClassOf 'very low density lipoprotein particle size measurement' http://www.ebi.ac.uk/EFO/EFO_0020863 intermediate density lipoprotein change measurement 'intermediate density lipoprotein change measurement' SubClassOf 'intermediate density lipoprotein measurement' http://www.ebi.ac.uk/EFO/EFO_0020866 high density lipoprotein particle size change measurement 'high density lipoprotein particle size change measurement' SubClassOf 'high density lipoprotein particle size measurement' http://www.ebi.ac.uk/EFO/EFO_0020865 low density lipoprotein particle size change measurement 'low density lipoprotein particle size change measurement' SubClassOf 'low density lipoprotein particle size measurement' http://www.ebi.ac.uk/EFO/EFO_0020857 very low density lipoprotein cholesterol change measurement 'very low density lipoprotein cholesterol change measurement' SubClassOf 'very low density lipoprotein cholesterol measurement' http://www.ebi.ac.uk/EFO/EFO_0020859 lipid change measurement 'lipid change measurement' SubClassOf 'lipid measurement' http://www.ebi.ac.uk/EFO/EFO_0020858 chylomicron change measurement 'chylomicron change measurement' SubClassOf 'chylomicron measurement' http://purl.obolibrary.org/obo/HP_0003269 Sudanophilic leukodystrophy 'Sudanophilic leukodystrophy' SubClassOf 'Morphological central nervous system abnormality' 'Sudanophilic leukodystrophy' SubClassOf 'Abnormal myelination' http://purl.obolibrary.org/obo/HP_0001071 Angiokeratoma corporis diffusum 'Angiokeratoma corporis diffusum' SubClassOf 'Vascular skin abnormality' http://purl.obolibrary.org/obo/MONDO_0020820 distal arthrogryposis type 2B1 'distal arthrogryposis type 2B1' SubClassOf 'Sheldon-Hall syndrome' 'distal arthrogryposis type 2B1' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/HP_0001699 Sudden death 'Sudden death' SubClassOf 'Constitutional symptom' http://purl.obolibrary.org/obo/HP_0011474 Childhood onset sensorineural hearing impairment 'Childhood onset sensorineural hearing impairment' SubClassOf 'Sensorineural hearing impairment' http://purl.obolibrary.org/obo/MONDO_0030900 intellectual developmental disorder with paroxysmal dyskinesia or seizures 'intellectual developmental disorder with paroxysmal dyskinesia or seizures' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0008672 Calcium oxalate nephrolithiasis 'Calcium oxalate nephrolithiasis' SubClassOf 'Abnormal renal morphology' http://purl.obolibrary.org/obo/MONDO_0018727 immunodeficiency due to a complement regulatory deficiency 'immunodeficiency due to a complement regulatory deficiency' SubClassOf 'Immunodeficiency due to a complement cascade protein anomaly' http://purl.obolibrary.org/obo/MONDO_0016104 infectious disease with peripheral neuropathy 'infectious disease with peripheral neuropathy' SubClassOf 'infectious disease of the nervous system' http://purl.obolibrary.org/obo/MONDO_0018789 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy 'COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy' SubClassOf 'COL4A1 or COL4A2-related cerebral small vessel disease' http://purl.obolibrary.org/obo/MONDO_0016180 hematological disease associated with an acquired peripheral neuropathy 'hematological disease associated with an acquired peripheral neuropathy' SubClassOf 'hematologic disease' 'hematological disease associated with an acquired peripheral neuropathy' SubClassOf 'disease has major feature' some 'acquired peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0016177 systemic inflammatory disease associated with an acquired peripheral neuropathy 'systemic inflammatory disease associated with an acquired peripheral neuropathy' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0016178 peripheral neuropathy associated with monoclonal gammopathy 'peripheral neuropathy associated with monoclonal gammopathy' SubClassOf 'acquired peripheral neuropathy' 'peripheral neuropathy associated with monoclonal gammopathy' SubClassOf 'disease has feature' some 'monoclonal gammopathy' http://purl.obolibrary.org/obo/MONDO_0018619 hyperinsulinemic hypoglycaemia 'hyperinsulinemic hypoglycaemia' SubClassOf 'has modifier' some 'rare' 'hyperinsulinemic hypoglycaemia' SubClassOf 'genetic disorder' 'hyperinsulinemic hypoglycaemia' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0033967 immune dysregulation with inflammatory bowel disease 'immune dysregulation with inflammatory bowel disease' SubClassOf 'Immune dysregulation disease with immunodeficiency' 'immune dysregulation with inflammatory bowel disease' SubClassOf 'disease has feature' some 'inflammatory bowel disease' 'immune dysregulation with inflammatory bowel disease' EquivalentTo 'Immune dysregulation disease with immunodeficiency' and ('disease has feature' some 'inflammatory bowel disease') http://purl.obolibrary.org/obo/MONDO_0100437 RPGR retinopathy 'RPGR retinopathy' SubClassOf 'Retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0016400 metal transport or utilization disorder with epilepsy 'metal transport or utilization disorder with epilepsy' SubClassOf 'metabolic disease with epilepsy' http://purl.obolibrary.org/obo/MONDO_0016401 energy metabolism disorder with epilepsy 'energy metabolism disorder with epilepsy' SubClassOf 'metabolic disease with epilepsy' 'energy metabolism disorder with epilepsy' SubClassOf 'Disorder of energy metabolism' 'energy metabolism disorder with epilepsy' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0016435 acquired dermis elastic tissue disorder with decreased elastic tissue 'acquired dermis elastic tissue disorder with decreased elastic tissue' SubClassOf 'acquired dermis elastic tissue disorder' http://purl.obolibrary.org/obo/MONDO_0016436 acquired dermis elastic tissue disorder with increased elastic tissue 'acquired dermis elastic tissue disorder with increased elastic tissue' SubClassOf 'acquired dermis elastic tissue disorder' http://purl.obolibrary.org/obo/MONDO_0016397 lysosomal disease with epilepsy 'lysosomal disease with epilepsy' SubClassOf 'Rare genetic neurological disorder' 'lysosomal disease with epilepsy' SubClassOf 'metabolic disease with epilepsy' 'lysosomal disease with epilepsy' SubClassOf 'Lysosomal disease' http://purl.obolibrary.org/obo/MONDO_0016398 peroxisomal disease with epilepsy 'peroxisomal disease with epilepsy' SubClassOf 'metabolic disease with epilepsy' http://purl.obolibrary.org/obo/MONDO_0016399 amino acid or protein metabolism disease with epilepsy 'amino acid or protein metabolism disease with epilepsy' SubClassOf 'metabolic disease with epilepsy' http://purl.obolibrary.org/obo/MONDO_0100213 IFAP syndrome with or without BRESHECK syndrome 'IFAP syndrome with or without BRESHECK syndrome' SubClassOf 'X-linked recessive disease' 'IFAP syndrome with or without BRESHECK syndrome' SubClassOf 'IFAP syndrome' http://purl.obolibrary.org/obo/MONDO_0016235 complex vascular malformation with associated anomalies 'complex vascular malformation with associated anomalies' SubClassOf 'vascular anomaly' http://purl.obolibrary.org/obo/MONDO_0024304 ichthyosis vulgaris 'ichthyosis vulgaris' SubClassOf 'ichthyosis' http://purl.obolibrary.org/obo/MONDO_0000212 hypercalcemia, infantile 'hypercalcemia, infantile' SubClassOf 'Inborn errors of metabolism' 'hypercalcemia, infantile' SubClassOf 'hypercalcemia disease' http://purl.obolibrary.org/obo/MONDO_0022756 chromosome 1q deletion 'chromosome 1q deletion' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0020078 acute myeloid leukemia with recurrent genetic anomaly 'acute myeloid leukemia with recurrent genetic anomaly' SubClassOf 'Inherited acute myeloid leukemia' 'acute myeloid leukemia with recurrent genetic anomaly' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0022174 chromosome 12p deletion 'chromosome 12p deletion' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0017264 syndromic recessive X-linked ichthyosis 'syndromic recessive X-linked ichthyosis' SubClassOf 'Metabolic disease with corneal opacity' 'syndromic recessive X-linked ichthyosis' SubClassOf 'Ichthyosis associated with ocular features' 'syndromic recessive X-linked ichthyosis' SubClassOf 'Sterol metabolism disorder' 'syndromic recessive X-linked ichthyosis' SubClassOf 'Rare syndromic dyslipidemia' 'syndromic recessive X-linked ichthyosis' SubClassOf 'X-linked ichthyosis syndrome' 'syndromic recessive X-linked ichthyosis' SubClassOf 'X-linked recessive disease' 'syndromic recessive X-linked ichthyosis' EquivalentTo 'Recessive X-linked ichthyosis' and ('has modifier' some 'has a syndromic presentation') 'syndromic recessive X-linked ichthyosis' SubClassOf 'Inherited non-syndromic ichthyosis' 'syndromic recessive X-linked ichthyosis' SubClassOf 'Syndromic corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0017016 primary interstitial lung disease specific to childhood due to alveolar structure disorder 'primary interstitial lung disease specific to childhood due to alveolar structure disorder' SubClassOf 'primary interstitial lung disease specific to childhood' http://purl.obolibrary.org/obo/MONDO_0017017 primary interstitial lung disease specific to childhood due to alveolar vascular disorder 'primary interstitial lung disease specific to childhood due to alveolar vascular disorder' SubClassOf 'primary interstitial lung disease specific to childhood' http://purl.obolibrary.org/obo/MONDO_0017023 secondary interstitial lung disease specific to childhood associated with a granulomatous disease 'secondary interstitial lung disease specific to childhood associated with a granulomatous disease' SubClassOf 'secondary interstitial lung disease specific to childhood associated with a systemic disease' http://purl.obolibrary.org/obo/MONDO_0017021 secondary interstitial lung disease specific to childhood associated with a connective tissue disease 'secondary interstitial lung disease specific to childhood associated with a connective tissue disease' SubClassOf 'secondary interstitial lung disease specific to childhood associated with a systemic disease' http://purl.obolibrary.org/obo/MONDO_0017038 secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis 'secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis' SubClassOf 'secondary interstitial lung disease in childhood and adulthood associated with a systemic disease' http://purl.obolibrary.org/obo/MONDO_0017035 secondary interstitial lung disease in childhood and adulthood associated with a systemic disease 'secondary interstitial lung disease in childhood and adulthood associated with a systemic disease' SubClassOf 'secondary interstitial lung disease in childhood and adulthood' http://purl.obolibrary.org/obo/MONDO_0017037 secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease 'secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease' SubClassOf 'secondary interstitial lung disease in childhood and adulthood associated with a systemic disease' http://purl.obolibrary.org/obo/MONDO_0010946 hypertrophic cardiomyopathy 6 'hypertrophic cardiomyopathy 6' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0015659 infectious disease with epilepsy 'infectious disease with epilepsy' SubClassOf 'epilepsy' 'infectious disease with epilepsy' SubClassOf 'central nervous system infection' http://purl.obolibrary.org/obo/MONDO_0015657 inflammatory and autoimmune disease with epilepsy 'inflammatory and autoimmune disease with epilepsy' SubClassOf 'has modifier' some 'rare' 'inflammatory and autoimmune disease with epilepsy' SubClassOf 'disease has major feature' some 'epilepsy' 'inflammatory and autoimmune disease with epilepsy' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0015572 cerebral malformation due to abnormal neuronal migration 'cerebral malformation due to abnormal neuronal migration' SubClassOf 'Cerebral malformation with epilepsy' http://purl.obolibrary.org/obo/MONDO_0017956 mixed autoinflammatory and autoimmune syndrome 'mixed autoinflammatory and autoimmune syndrome' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0015928 secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease 'secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease' SubClassOf 'secondary interstitial lung disease in childhood and adulthood associated with a systemic disease'