2318 136 112 http://www.ebi.ac.uk/efo/EFO_1000220 Disseminated Peritoneal Leiomyomatosis 'Disseminated Peritoneal Leiomyomatosis' SubClassOf 'primary peritoneal tumor' http://www.ebi.ac.uk/efo/EFO_1000266 Gallbladder Small Cell Neuroendocrine Carcinoma 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'inherited neuroendocrine tumor' http://www.ebi.ac.uk/efo/EFO_1000293 Hepatoid Adenocarcinoma 'Hepatoid Adenocarcinoma' SubClassOf 'adenocarcinoma of liver and intrahepatic biliary tract' 'Hepatoid Adenocarcinoma' SubClassOf 'liver disease' 'Hepatoid Adenocarcinoma' SubClassOf 'Digestive System Carcinoma' 'Hepatoid Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Hepatoid Adenocarcinoma' SubClassOf 'Hepatobiliary Neoplasm' http://www.ebi.ac.uk/efo/EFO_0000437 embryonal rhabdomyosarcoma 'embryonal rhabdomyosarcoma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021582 lentigo 'lentigo' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0800092 hereditary inflammatory or rheumatoid-like osteoarthropathy 'hereditary inflammatory or rheumatoid-like osteoarthropathy' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800093 dysostosis with brachydactyly without extraskeletal manifestations 'dysostosis with brachydactyly without extraskeletal manifestations' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800090 ectrodactyly with and without other manifestations 'ectrodactyly with and without other manifestations' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800091 overgrowth or tall stature syndrome with skeletal involvement 'overgrowth or tall stature syndrome with skeletal involvement' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800094 dysostosis with brachydactyly with extraskeletal manifestations 'dysostosis with brachydactyly with extraskeletal manifestations' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800095 syndrome with synostosis or other joint formation defect 'syndrome with synostosis or other joint formation defect' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800089 primary bone dysplasia with disorganized development of skeletal components 'primary bone dysplasia with disorganized development of skeletal components' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800087 type 11 collagen-related bone disorder 'type 11 collagen-related bone disorder' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800063 primordial dwarfism and slender bone disorder 'primordial dwarfism and slender bone disorder' SubClassOf 'slender bone dysplasia' 'primordial dwarfism and slender bone disorder' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800085 dysostosis with predominant craniofacial involvement 'dysostosis with predominant craniofacial involvement' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800086 primary bone dysplasia with multiple joint dislocations 'primary bone dysplasia with multiple joint dislocations' SubClassOf 'skeletal dysplasia' 'primary bone dysplasia with multiple joint dislocations' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0800084 primary bone dysplasia with increased bone density 'primary bone dysplasia with increased bone density' SubClassOf 'skeletal dysplasia' 'primary bone dysplasia with increased bone density' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0800075 dysostosis with predominant vertebral with and without costal involvement 'dysostosis with predominant vertebral with and without costal involvement' SubClassOf 'skeletal dysplasia' 'dysostosis with predominant vertebral with and without costal involvement' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0800066 polydactyly-syndactyly-triphalangism 'polydactyly-syndactyly-triphalangism' SubClassOf 'synpolydactyly' 'polydactyly-syndactyly-triphalangism' SubClassOf 'syndactyly' 'polydactyly-syndactyly-triphalangism' SubClassOf 'polydactyly' http://www.ebi.ac.uk/efo/EFO_0000333 chondrosarcoma 'chondrosarcoma' SubClassOf 'hereditary disorder of connective tissue' http://www.ebi.ac.uk/efo/EFO_1000334 Lung Lymphangioleiomyomatosis 'Lung Lymphangioleiomyomatosis' SubClassOf 'primary interstitial lung disease specific to adulthood' http://www.ebi.ac.uk/efo/EFO_1000012 Rienhoff syndrome 'Rienhoff syndrome' SubClassOf 'overgrowth or tall stature syndrome with skeletal involvement' 'Rienhoff syndrome' SubClassOf 'skeletal system disease' http://www.ebi.ac.uk/efo/EFO_0000613 myxoid liposarcoma 'myxoid liposarcoma' SubClassOf 'inherited soft tissue tumor' http://www.ebi.ac.uk/efo/EFO_0000630 oligoastrocytoma 'oligoastrocytoma' SubClassOf 'oligoastrocytic tumor' 'oligoastrocytoma' SubClassOf 'Malignant Mixed Neoplasm' 'oligoastrocytoma' SubClassOf 'mixed glioma' 'oligoastrocytoma' SubClassOf 'central nervous system cancer' http://www.ebi.ac.uk/efo/EFO_0009001 Mastocytosis 'Mastocytosis' SubClassOf 'tumor of hematopoietic and lymphoid tissues' http://purl.obolibrary.org/obo/MONDO_0011911 craniolenticulosutural dysplasia 'craniolenticulosutural dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011928 caudal duplication 'caudal duplication' SubClassOf 'syndromic anorectal malformation' 'caudal duplication' SubClassOf 'digestive system disease' 'caudal duplication' SubClassOf 'genetic disorder' 'caudal duplication' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011939 Spondyloenchondrodysplasia with immune dysregulation 'Spondyloenchondrodysplasia with immune dysregulation' SubClassOf 'type 1 interferonopathy' 'Spondyloenchondrodysplasia with immune dysregulation' SubClassOf 'hereditary disorder of connective tissue' 'Spondyloenchondrodysplasia with immune dysregulation' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011934 dermatofibrosarcoma protuberans 'dermatofibrosarcoma protuberans' SubClassOf 'inherited soft tissue tumor' 'dermatofibrosarcoma protuberans' SubClassOf 'Skin Sarcoma' 'dermatofibrosarcoma protuberans' SubClassOf 'inherited skin tumor' 'dermatofibrosarcoma protuberans' SubClassOf 'integumentary system cancer' http://www.ebi.ac.uk/efo/EFO_0009016 Ataxia-oculomotor apraxia type 4 'Ataxia-oculomotor apraxia type 4' SubClassOf 'hereditary neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0011945 Gaucher disease perinatal lethal 'Gaucher disease perinatal lethal' SubClassOf 'autosomal ichthyosis syndrome' 'Gaucher disease perinatal lethal' SubClassOf 'syndromic dyslipidemia' http://purl.obolibrary.org/obo/MONDO_0011946 diaphanospondylodysostosis 'diaphanospondylodysostosis' SubClassOf 'dysostosis with predominant vertebral with and without costal involvement' http://www.ebi.ac.uk/efo/EFO_0009048 Intrahepatic cholestasis of pregnancy 'Intrahepatic cholestasis of pregnancy' SubClassOf 'hereditary biliary tract disease' 'Intrahepatic cholestasis of pregnancy' SubClassOf 'biliary tract disease' http://purl.obolibrary.org/obo/UBERON_0002250 popliteal artery 'popliteal artery' SubClassOf 'part of' some 'femoral artery' http://www.ebi.ac.uk/efo/EFO_0009052 Pleuropulmonary blastoma 'Pleuropulmonary blastoma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011971 hyper-IgM syndrome type 5 'hyper-IgM syndrome type 5' SubClassOf 'hyper-IgM syndrome without susceptibility to opportunistic infections' 'hyper-IgM syndrome type 5' SubClassOf 'hyper-IgM syndrome' http://purl.obolibrary.org/obo/MONDO_0011972 ovarian hyperstimulation syndrome 'ovarian hyperstimulation syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011984 synpolydactyly type 2 'synpolydactyly type 2' SubClassOf 'non-syndromic polydactyly' http://purl.obolibrary.org/obo/MONDO_0011985 hyper-IgM syndrome type 4 'hyper-IgM syndrome type 4' SubClassOf 'hyper-IgM syndrome without susceptibility to opportunistic infections' 'hyper-IgM syndrome type 4' SubClassOf 'hyper-IgM syndrome' http://purl.obolibrary.org/obo/DOID_0050890 synucleinopathy 'synucleinopathy' SubClassOf 'neurodegenerative disease' 'synucleinopathy' SubClassOf 'inherited neurodegenerative disorder' 'synucleinopathy' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0011998 autosomal dominant slowed nerve conduction velocity 'autosomal dominant slowed nerve conduction velocity' SubClassOf 'autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'autosomal dominant slowed nerve conduction velocity' SubClassOf 'hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0011992 hereditary spastic paraplegia 25 'hereditary spastic paraplegia 25' SubClassOf 'autosomal recessive complex spastic paraplegia' 'hereditary spastic paraplegia 25' SubClassOf 'complex hereditary spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_1000159 Cerebellar Liponeurocytoma 'Cerebellar Liponeurocytoma' SubClassOf 'neuronal tumor' http://purl.obolibrary.org/obo/MONDO_0011803 hereditary spastic paraplegia 7 'hereditary spastic paraplegia 7' SubClassOf 'pure or complex autosomal recessive spastic paraplegia' 'hereditary spastic paraplegia 7' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011812 Duane-radial ray syndrome 'Duane-radial ray syndrome' SubClassOf 'syndromic anorectal malformation' 'Duane-radial ray syndrome' SubClassOf 'congenital limb malformation' 'Duane-radial ray syndrome' SubClassOf 'dysostosis' 'Duane-radial ray syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011862 hereditary spastic paraplegia 24 'hereditary spastic paraplegia 24' SubClassOf 'autosomal recessive complex spastic paraplegia' 'hereditary spastic paraplegia 24' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011874 neonatal ichthyosis-sclerosing cholangitis syndrome 'neonatal ichthyosis-sclerosing cholangitis syndrome' SubClassOf 'hereditary biliary tract disease' 'neonatal ichthyosis-sclerosing cholangitis syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'neonatal ichthyosis-sclerosing cholangitis syndrome' SubClassOf 'inherited ichthyosis' 'neonatal ichthyosis-sclerosing cholangitis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011899 Noonan syndrome-like disorder with loose anagen hair 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'hereditary alopecia' http://www.ebi.ac.uk/efo/EFO_0009201 myopic macular degeneration 'myopic macular degeneration' SubClassOf 'inherited vitreous-retinal disease' 'myopic macular degeneration' SubClassOf 'retinopathy' 'myopic macular degeneration' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0010248 spinocerebellar ataxia, autosomal recessive, 27 'spinocerebellar ataxia, autosomal recessive, 27' SubClassOf 'hereditary neuro-ophthalmological disease' http://www.ebi.ac.uk/efo/EFO_0010249 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3' SubClassOf 'hereditary neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0011719 gastrointestinal stromal tumor 'gastrointestinal stromal tumor' SubClassOf 'inherited digestive tract tumor' 'gastrointestinal stromal tumor' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome 'intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'syndromic genetic obesity' http://purl.obolibrary.org/obo/MONDO_0011721 distal myopathy with anterior tibial onset 'distal myopathy with anterior tibial onset' SubClassOf 'autosomal recessive distal myopathy' 'distal myopathy with anterior tibial onset' SubClassOf 'distal myopathy' http://purl.obolibrary.org/obo/MONDO_0011735 hyper-IgM syndrome type 3 'hyper-IgM syndrome type 3' SubClassOf 'hyper-IgM syndrome with susceptibility to opportunistic infections' 'hyper-IgM syndrome type 3' SubClassOf 'hyper-IgM syndrome' http://purl.obolibrary.org/obo/MONDO_0011738 bilateral frontoparietal polymicrogyria 'bilateral frontoparietal polymicrogyria' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011731 glucose-galactose malabsorption 'glucose-galactose malabsorption' SubClassOf 'congenital intestinal transport defect' 'glucose-galactose malabsorption' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0011732 familial digital arthropathy-brachydactyly 'familial digital arthropathy-brachydactyly' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0011744 primary intraosseous venous malformation 'primary intraosseous venous malformation' SubClassOf 'congenital vascular bone syndrome' 'primary intraosseous venous malformation' SubClassOf 'vascular bone neoplasm' 'primary intraosseous venous malformation' SubClassOf 'bone benign neoplasm' 'primary intraosseous venous malformation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome '46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0011776 CINCA syndrome 'CINCA syndrome' SubClassOf 'hereditary inflammatory or rheumatoid-like osteoarthropathy' 'CINCA syndrome' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0011787 autosomal recessive limb-girdle muscular dystrophy type 2I 'autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'disorder of O-mannosylglycan synthesis' http://purl.obolibrary.org/obo/MONDO_0011785 hereditary spastic paraplegia 19 'hereditary spastic paraplegia 19' SubClassOf 'autosomal dominant pure spastic paraplegia' 'hereditary spastic paraplegia 19' SubClassOf 'pure hereditary spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0000702 small cell lung carcinoma 'small cell lung carcinoma' SubClassOf 'inherited neuroendocrine tumor' http://www.ebi.ac.uk/efo/EFO_0000731 uterine fibroid 'uterine fibroid' SubClassOf 'inherited soft tissue tumor' http://www.ebi.ac.uk/efo/EFO_0000769 Epstein-Barr virus infection 'Epstein-Barr virus infection' SubClassOf 'Herpesviridae infectious disease' 'Epstein-Barr virus infection' SubClassOf 'primary viral infectious disease' http://www.ebi.ac.uk/efo/EFO_0009150 cholestasis, intrahepatic, of pregnancy 3 'cholestasis, intrahepatic, of pregnancy 3' SubClassOf 'hereditary biliary tract disease' 'cholestasis, intrahepatic, of pregnancy 3' SubClassOf 'biliary tract disease' http://purl.obolibrary.org/obo/MONDO_0011603 GNE myopathy 'GNE myopathy' SubClassOf 'autosomal recessive distal myopathy' 'GNE myopathy' SubClassOf 'qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase' 'GNE myopathy' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011605 generalized basaloid follicular hamartoma syndrome 'generalized basaloid follicular hamartoma syndrome' SubClassOf 'inherited skin tumor' 'generalized basaloid follicular hamartoma syndrome' SubClassOf 'hereditary skin disorder' http://www.ebi.ac.uk/efo/EFO_0009160 stromme syndrome 'stromme syndrome' SubClassOf 'developmental defect of the eye' 'stromme syndrome' SubClassOf 'syndromic intestinal malformation' 'stromme syndrome' SubClassOf 'lethal multiple congenital anomalies/dysmorphic syndrome' http://www.ebi.ac.uk/efo/EFO_0009068 dicer1 syndrome 'dicer1 syndrome' SubClassOf 'disease has feature' some 'Pleuropulmonary blastoma' 'dicer1 syndrome' SubClassOf 'syndromic disease' 'dicer1 syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011620 metaphyseal dysplasia, Braun-Tinschert type 'metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'primary bone dysplasia with increased bone density' 'metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011640 genitopatellar syndrome 'genitopatellar syndrome' SubClassOf 'patellar dysostosis' 'genitopatellar syndrome' SubClassOf 'skeletal dysplasia' 'genitopatellar syndrome' SubClassOf 'syndromic disease' 'genitopatellar syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0011652 Phelan-McDermid syndrome 'Phelan-McDermid syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome 'hypotonia-cystinuria syndrome' SubClassOf 'homozygous 2p21 microdeletion syndrome' 'hypotonia-cystinuria syndrome' SubClassOf 'partial deletion of the short arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0021002 syndactyly 'syndactyly' SubClassOf 'dysostosis of genetic origin' 'syndactyly' SubClassOf 'disorder of development or morphogenesis' 'syndactyly' SubClassOf 'genetic disorder' 'syndactyly' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0021003 polydactyly 'polydactyly' SubClassOf 'dysostosis of genetic origin' 'polydactyly' SubClassOf 'skeletal system disease' 'polydactyly' SubClassOf 'disorder of development or morphogenesis' 'polydactyly' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021004 brachydactyly 'brachydactyly' SubClassOf 'dysostosis of genetic origin' 'brachydactyly' SubClassOf 'skeletal system disease' 'brachydactyly' SubClassOf 'genetic disorder' 'brachydactyly' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0021005 faciodigitogenital syndrome 'faciodigitogenital syndrome' SubClassOf 'syndromic urogenital tract malformation' 'faciodigitogenital syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011676 PHACE syndrome 'PHACE syndrome' SubClassOf 'disease has feature' some 'neurovascular malformation' http://purl.obolibrary.org/obo/MONDO_0011686 DNA ligase IV deficiency 'DNA ligase IV deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0021026 hereditary epidermal appendage anomaly 'hereditary epidermal appendage anomaly' SubClassOf 'hereditary skin disorder' 'hereditary epidermal appendage anomaly' EquivalentTo 'epidermal appendage anomaly' and ('bearer_of' some 'inherited') 'hereditary epidermal appendage anomaly' SubClassOf 'epidermal appendage anomaly' 'hereditary epidermal appendage anomaly' SubClassOf 'skin disease' 'hereditary epidermal appendage anomaly' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome 'TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021029 hereditary sebaceous gland anomaly 'hereditary sebaceous gland anomaly' SubClassOf 'sebaceous gland anomaly' 'hereditary sebaceous gland anomaly' EquivalentTo 'sebaceous gland anomaly' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 'choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021019 X-linked recessive ocular albinism 'X-linked recessive ocular albinism' SubClassOf 'albinism' http://purl.obolibrary.org/obo/MONDO_0035682 fibrous dysplasia/McCune-Albright syndrome 'fibrous dysplasia/McCune-Albright syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0021034 hereditary alopecia 'hereditary alopecia' EquivalentTo 'alopecia' and ('bearer_of' some 'inherited') 'hereditary alopecia' SubClassOf 'hereditary epidermal appendage anomaly' 'hereditary alopecia' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0021057 classic or attenuated familial adenomatous polyposis 'classic or attenuated familial adenomatous polyposis' SubClassOf 'intestinal neoplasm' 'classic or attenuated familial adenomatous polyposis' SubClassOf 'inherited digestive tract tumor' 'classic or attenuated familial adenomatous polyposis' SubClassOf 'hereditary intestinal polyposis' http://purl.obolibrary.org/obo/MONDO_0011504 NDE1-related microhydranencephaly 'NDE1-related microhydranencephaly' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011506 familial infantile myoclonic epilepsy 'familial infantile myoclonic epilepsy' SubClassOf 'myoclonic epilepsy of infancy' http://purl.obolibrary.org/obo/MONDO_0011500 Becker nevus syndrome 'Becker nevus syndrome' SubClassOf 'female reproductive system neoplasm' 'Becker nevus syndrome' SubClassOf 'breast benign neoplasm' 'Becker nevus syndrome' SubClassOf 'deficient breast volume or number' 'Becker nevus syndrome' SubClassOf 'inherited skin tumor' 'Becker nevus syndrome' SubClassOf 'benign reproductive system neoplasm' 'Becker nevus syndrome' SubClassOf 'bearer_of' some 'rare' 'Becker nevus syndrome' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0011517 pseudohyperaldosteronism type 2 'pseudohyperaldosteronism type 2' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011518 Wiedemann-Steiner syndrome 'Wiedemann-Steiner syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011512 Brooke-Spiegler syndrome 'Brooke-Spiegler syndrome' SubClassOf 'palpebral piliary tumor' 'Brooke-Spiegler syndrome' SubClassOf 'inherited skin tumor' 'Brooke-Spiegler syndrome' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0011510 Bohring-Opitz syndrome 'Bohring-Opitz syndrome' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_1170 Autosomal recessive cerebelloparenchymal disorder type 3 'Autosomal recessive cerebelloparenchymal disorder type 3' SubClassOf 'hereditary neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0011528 hyper-IgM syndrome type 2 'hyper-IgM syndrome type 2' SubClassOf 'hyper-IgM syndrome without susceptibility to opportunistic infections' 'hyper-IgM syndrome type 2' SubClassOf 'hyper-IgM syndrome' http://purl.obolibrary.org/obo/MONDO_0011522 hereditary spastic paraplegia 14 'hereditary spastic paraplegia 14' SubClassOf 'pure or complex autosomal recessive spastic paraplegia' 'hereditary spastic paraplegia 14' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011539 nemaline myopathy 5 'nemaline myopathy 5' SubClassOf 'qualitative or quantitative defects of troponin' 'nemaline myopathy 5' SubClassOf 'congenital nervous system disorder' 'nemaline myopathy 5' SubClassOf 'congenital nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0011530 mesomelic dysplasia, Savarirayan type 'mesomelic dysplasia, Savarirayan type' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'mesomelic dysplasia, Savarirayan type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023599 'mesomelic dysplasia, Savarirayan type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011533 temtamy preaxial brachydactyly syndrome 'temtamy preaxial brachydactyly syndrome' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 'temtamy preaxial brachydactyly syndrome' SubClassOf 'dysostosis with brachydactyly with extraskeletal manifestations' 'temtamy preaxial brachydactyly syndrome' SubClassOf 'dysostosis of genetic origin' 'temtamy preaxial brachydactyly syndrome' SubClassOf 'disorder of O-xylosylglycan synthesis' 'temtamy preaxial brachydactyly syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'temtamy preaxial brachydactyly syndrome' SubClassOf 'congenital disorder of glycosylation' 'temtamy preaxial brachydactyly syndrome' SubClassOf 'syndromic disease' 'temtamy preaxial brachydactyly syndrome' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0011532 hereditary spastic paraplegia 13 'hereditary spastic paraplegia 13' SubClassOf 'pure or complex autosomal dominant spastic paraplegia' 'hereditary spastic paraplegia 13' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011551 TH-deficient dopa-responsive dystonia 'TH-deficient dopa-responsive dystonia' SubClassOf 'disorder of pterin metabolism' http://purl.obolibrary.org/obo/MONDO_0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 'radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome' SubClassOf 'dysostosis of genetic origin' 'radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0011578 familial papillary thyroid carcinoma with renal papillary neoplasia 'familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'inherited renal cancer-predisposing syndrome' 'familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'renal carcinoma' http://purl.obolibrary.org/obo/MONDO_0011584 Fanconi anemia complementation group D1 'Fanconi anemia complementation group D1' SubClassOf 'inherited renal cancer-predisposing syndrome' http://purl.obolibrary.org/obo/MONDO_0011599 birdshot chorioretinopathy 'birdshot chorioretinopathy' SubClassOf 'non-infectious posterior uveitis' 'birdshot chorioretinopathy' SubClassOf 'posterior uveitis' http://purl.obolibrary.org/obo/MONDO_0060554 vertebral, cardiac, renal, and limb defects syndrome 1 'vertebral, cardiac, renal, and limb defects syndrome 1' SubClassOf 'dysostosis with predominant vertebral with and without costal involvement' http://purl.obolibrary.org/obo/MONDO_0060555 vertebral, cardiac, renal, and limb defects syndrome 2 'vertebral, cardiac, renal, and limb defects syndrome 2' SubClassOf 'dysostosis with predominant vertebral with and without costal involvement' http://purl.obolibrary.org/obo/MONDO_0060556 joint laxity, short stature, and myopia 'joint laxity, short stature, and myopia' SubClassOf 'primary bone dysplasia with multiple joint dislocations' 'joint laxity, short stature, and myopia' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0009301 dystonia 28, childhood-onset 'dystonia 28, childhood-onset' SubClassOf 'persistent combined dystonia' 'dystonia 28, childhood-onset' SubClassOf 'inherited dystonia' http://www.ebi.ac.uk/efo/EFO_0009385 familial tumoral calcinosis 'familial tumoral calcinosis' SubClassOf 'inherited skin tumor' 'familial tumoral calcinosis' SubClassOf 'integumentary system disease' http://www.ebi.ac.uk/efo/EFO_0009383 tumoral calcinosis, hyperphosphatemic, familial, 2 'tumoral calcinosis, hyperphosphatemic, familial, 2' SubClassOf 'bone neoplasm' 'tumoral calcinosis, hyperphosphatemic, familial, 2' SubClassOf 'primary bone dysplasia with increased bone density' 'tumoral calcinosis, hyperphosphatemic, familial, 2' SubClassOf 'hereditary disorder of connective tissue' http://www.ebi.ac.uk/efo/EFO_0009384 tumoral calcinosis, hyperphosphatemic, familial, 3 'tumoral calcinosis, hyperphosphatemic, familial, 3' SubClassOf 'hereditary disorder of connective tissue' 'tumoral calcinosis, hyperphosphatemic, familial, 3' SubClassOf 'bone neoplasm' 'tumoral calcinosis, hyperphosphatemic, familial, 3' SubClassOf 'primary bone dysplasia with increased bone density' http://purl.obolibrary.org/obo/MONDO_0011408 hereditary spastic paraplegia 10 'hereditary spastic paraplegia 10' SubClassOf 'pure or complex autosomal dominant spastic paraplegia' 'hereditary spastic paraplegia 10' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome 'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'autosomal recessive hereditary demyelinating motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0011411 Chudley-McCullough syndrome 'Chudley-McCullough syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 'ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3' SubClassOf 'ectrodactyly with and without other manifestations' http://purl.obolibrary.org/obo/MONDO_0011422 autosomal recessive proximal renal tubular acidosis 'autosomal recessive proximal renal tubular acidosis' SubClassOf 'inherited renal tubular disease' 'autosomal recessive proximal renal tubular acidosis' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0011445 hereditary spastic paraplegia 11 'hereditary spastic paraplegia 11' SubClassOf 'pure or complex autosomal recessive spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011457 ataxia-telangiectasia-like disorder 'ataxia-telangiectasia-like disorder' SubClassOf 'inherited nervous system cancer-predisposing syndrome' http://purl.obolibrary.org/obo/MONDO_0011469 congenital amegakaryocytic thrombocytopenia 'congenital amegakaryocytic thrombocytopenia' SubClassOf 'isolated constitutional thrombocytopenia' 'congenital amegakaryocytic thrombocytopenia' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome 'pyogenic arthritis-pyoderma gangrenosum-acne syndrome' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'pyogenic arthritis-pyoderma gangrenosum-acne syndrome' SubClassOf 'pyogenic autoinflammatory syndrome' 'pyogenic arthritis-pyoderma gangrenosum-acne syndrome' SubClassOf 'autoinflammatory syndrome' 'pyogenic arthritis-pyoderma gangrenosum-acne syndrome' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0011468 hereditary motor and sensory neuropathy, Okinawa type 'hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'autosomal dominant hereditary axonal motor and sensory neuropathy' 'hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0011489 hereditary spastic paraplegia 12 'hereditary spastic paraplegia 12' SubClassOf 'autosomal dominant pure spastic paraplegia' 'hereditary spastic paraplegia 12' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011499 Okamoto syndrome 'Okamoto syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Okamoto syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011493 Stickler syndrome type 2 'Stickler syndrome type 2' SubClassOf 'type 11 collagen-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0016109 autosomal recessive distal myopathy 'autosomal recessive distal myopathy' SubClassOf 'autosomal recessive disease' 'autosomal recessive distal myopathy' SubClassOf 'distal myopathy' 'autosomal recessive distal myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016114 bulbospinal muscular atrophy of childhood 'bulbospinal muscular atrophy of childhood' SubClassOf 'bulbospinal muscular atrophy' 'bulbospinal muscular atrophy of childhood' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016115 bulbospinal muscular atrophy of adulthood 'bulbospinal muscular atrophy of adulthood' SubClassOf 'bulbospinal muscular atrophy' 'bulbospinal muscular atrophy of adulthood' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016116 generalized bulbospinal muscular atrophy 'generalized bulbospinal muscular atrophy' SubClassOf 'bulbospinal muscular atrophy' 'generalized bulbospinal muscular atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016125 infectious, fungal or parasitic myopathy 'infectious, fungal or parasitic myopathy' SubClassOf 'infectious disease' 'infectious, fungal or parasitic myopathy' EquivalentTo 'myopathy' and 'infectious disease' 'infectious, fungal or parasitic myopathy' SubClassOf 'myopathy' 'infectious, fungal or parasitic myopathy' SubClassOf 'acquired skeletal muscle disease' http://purl.obolibrary.org/obo/MONDO_0016127 bacterial myositis 'bacterial myositis' SubClassOf 'infectious, fungal or parasitic myopathy' http://purl.obolibrary.org/obo/MONDO_0016121 congenital myotonia 'congenital myotonia' SubClassOf 'bearer_of' some 'congenital' 'congenital myotonia' SubClassOf 'myotonic syndrome' 'congenital myotonia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016149 qualitative or quantitative defects of merosin 'qualitative or quantitative defects of merosin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of merosin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016143 qualitative or quantitative defects of gamma-sarcoglycan 'qualitative or quantitative defects of gamma-sarcoglycan' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016144 qualitative or quantitative defects of delta-sarcoglycan 'qualitative or quantitative defects of delta-sarcoglycan' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016145 qualitative or quantitative defects of dysferlin 'qualitative or quantitative defects of dysferlin' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016146 caveolinopathy 'caveolinopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016141 qualitative or quantitative defects of alpha-sarcoglycan 'qualitative or quantitative defects of alpha-sarcoglycan' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016142 qualitative or quantitative defects of beta-sarcoglycan 'qualitative or quantitative defects of beta-sarcoglycan' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016154 qualitative or quantitative defects of myotubularin 'qualitative or quantitative defects of myotubularin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of myotubularin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016157 qualitative or quantitative defects of fukutin 'qualitative or quantitative defects of fukutin' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'qualitative or quantitative defects of fukutin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016150 qualitative or quantitative defects of integrin alpha-7 'qualitative or quantitative defects of integrin alpha-7' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of integrin alpha-7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016151 qualitative or quantitative defects of perlecan 'qualitative or quantitative defects of perlecan' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016152 qualitative or quantitative defects of calpain 'qualitative or quantitative defects of calpain' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of calpain' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016153 qualitative or quantitative defects of TRIM32 'qualitative or quantitative defects of TRIM32' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016170 chronic polyradiculoneuropathy 'chronic polyradiculoneuropathy' SubClassOf 'polyradiculoneuropathy' 'chronic polyradiculoneuropathy' SubClassOf 'chronic acquired demyelinating polyneuropathy' 'chronic polyradiculoneuropathy' SubClassOf 'chronic polyneuropathy' 'chronic polyradiculoneuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016169 chronic acquired demyelinating polyneuropathy 'chronic acquired demyelinating polyneuropathy' SubClassOf 'acquired peripheral neuropathy' 'chronic acquired demyelinating polyneuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016168 cryopyrin-associated periodic syndrome 'cryopyrin-associated periodic syndrome' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'cryopyrin-associated periodic syndrome' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0016182 qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase 'qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016179 acquired amyloid peripheral neuropathy 'acquired amyloid peripheral neuropathy' SubClassOf 'acquired peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0016175 cutis laxa 'cutis laxa' SubClassOf 'dermis elastic tissue disorder' 'cutis laxa' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0016192 qualitative or quantitative defects of telethonin 'qualitative or quantitative defects of telethonin' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016187 qualitative or quantitative defects of desmin 'qualitative or quantitative defects of desmin' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016183 qualitative or quantitative defects of protein glycosyltransferase-like 'qualitative or quantitative defects of protein glycosyltransferase-like' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'qualitative or quantitative defects of protein glycosyltransferase-like' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016198 qualitative or quantitative defects of plectin 'qualitative or quantitative defects of plectin' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016195 qualitative or quantitative defects of beta-myosin heavy chain (MYH7) 'qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016196 qualitative or quantitative defects of emerin 'qualitative or quantitative defects of emerin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of emerin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016009 fetal trimethadione syndrome 'fetal trimethadione syndrome' SubClassOf 'teratogenic Pierre Robin syndrome' 'fetal trimethadione syndrome' SubClassOf 'fetal anticonvulsant syndrome' 'fetal trimethadione syndrome' SubClassOf 'toxic or drug-related embryofetopathy' http://purl.obolibrary.org/obo/MONDO_0016001 2-hydroxyglutaric aciduria '2-hydroxyglutaric aciduria' SubClassOf 'cerebral organic aciduria' '2-hydroxyglutaric aciduria' SubClassOf 'inborn errors of metabolism' '2-hydroxyglutaric aciduria' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'kyphoscoliotic Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'primary bone dysplasia with multiple joint dislocations' 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016028 erythromelalgia 'erythromelalgia' SubClassOf 'neurovascular disorder' 'erythromelalgia' SubClassOf 'autosomal dominant hereditary sensory and autonomic neuropathy' 'erythromelalgia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016024 shoulder and thorax deformity-congenital heart disease syndrome 'shoulder and thorax deformity-congenital heart disease syndrome' SubClassOf 'dysostosis of genetic origin' 'shoulder and thorax deformity-congenital heart disease syndrome' SubClassOf 'genetic disorder' 'shoulder and thorax deformity-congenital heart disease syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome 'Cornelia de Lange syndrome' SubClassOf 'dysostosis of genetic origin' 'Cornelia de Lange syndrome' SubClassOf 'genetic disorder' 'Cornelia de Lange syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0016034 cleft lip with or without cleft palate 'cleft lip with or without cleft palate' SubClassOf 'disorder of facial skeleton' 'cleft lip with or without cleft palate' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0016032 femoral agenesis/hypoplasia 'femoral agenesis/hypoplasia' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0016044 cleft lip/palate 'cleft lip/palate' SubClassOf 'cleft lip with or without cleft palate' 'cleft lip/palate' SubClassOf 'orofacial cleft' 'cleft lip/palate' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0016046 familial clubfoot with or without associated lower limb anomalies 'familial clubfoot with or without associated lower limb anomalies' SubClassOf 'dysostosis of genetic origin' 'familial clubfoot with or without associated lower limb anomalies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016043 isolated cleft lip 'isolated cleft lip' SubClassOf 'cleft lip with or without cleft palate' 'isolated cleft lip' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0016060 laryngotracheoesophageal cleft 'laryngotracheoesophageal cleft' SubClassOf 'respiratory malformation' 'laryngotracheoesophageal cleft' SubClassOf 'non-syndromic esophageal malformation' 'laryngotracheoesophageal cleft' SubClassOf 'non-syndromic respiratory or mediastinal malformation' 'laryngotracheoesophageal cleft' SubClassOf 'larynx anomaly' 'laryngotracheoesophageal cleft' SubClassOf 'esophageal disease' 'laryngotracheoesophageal cleft' SubClassOf 'bearer_of' some 'rare' 'laryngotracheoesophageal cleft' SubClassOf 'tracheal disorder' http://purl.obolibrary.org/obo/MONDO_0016056 isolated congenital microcephaly 'isolated congenital microcephaly' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016051 cleft lip-retinopathy syndrome 'cleft lip-retinopathy syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'cleft lip-retinopathy syndrome' SubClassOf 'congenital nervous system disorder' 'cleft lip-retinopathy syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'cleft lip-retinopathy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016054 cerebral malformation 'cerebral malformation' SubClassOf 'central nervous system malformation' 'cerebral malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016071 juvenile hyaline fibromatosis 'juvenile hyaline fibromatosis' SubClassOf 'inherited soft tissue tumor' 'juvenile hyaline fibromatosis' SubClassOf 'inherited skin tumor' 'juvenile hyaline fibromatosis' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0016072 anomaly of puberty or/and menstrual cycle of genetic origin 'anomaly of puberty or/and menstrual cycle of genetic origin' SubClassOf 'genetic disorder' 'anomaly of puberty or/and menstrual cycle of genetic origin' SubClassOf 'anomaly of puberty or/and menstrual cycle' 'anomaly of puberty or/and menstrual cycle of genetic origin' EquivalentTo 'anomaly of puberty or/and menstrual cycle' and ('bearer_of' some 'inherited') 'anomaly of puberty or/and menstrual cycle of genetic origin' SubClassOf 'bearer_of' some 'rare' 'anomaly of puberty or/and menstrual cycle of genetic origin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016068 fibrochondrogenesis 'fibrochondrogenesis' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'fibrochondrogenesis' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease 'Cowden disease' SubClassOf 'disease has feature' some 'inherited digestive tract tumor' http://purl.obolibrary.org/obo/MONDO_0016073 syndromic microphthalmia 'syndromic microphthalmia' SubClassOf 'anophthalmia-microphthalmia syndrome' http://purl.obolibrary.org/obo/MONDO_0016087 progressive non-infectious anterior vertebral fusion 'progressive non-infectious anterior vertebral fusion' SubClassOf 'dysostosis of genetic origin' 'progressive non-infectious anterior vertebral fusion' SubClassOf 'genetic disorder' 'progressive non-infectious anterior vertebral fusion' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers 'symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'Duchenne and Becker muscular dystrophy' 'symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'familial dilated cardiomyopathy' 'symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'progressive muscular dystrophy' http://www.orpha.net/ORDO/Orphanet_96 Ataxia with vitamin E deficiency 'Ataxia with vitamin E deficiency' SubClassOf 'hereditary neuro-ophthalmological disease' http://www.ebi.ac.uk/efo/EFO_1000888 cystic lymphangioma 'cystic lymphangioma' SubClassOf 'common cystic lymphatic malformation' 'cystic lymphangioma' SubClassOf 'lymphangioma' http://www.ebi.ac.uk/efo/EFO_1000895 desmoplastic small round cell tumor 'desmoplastic small round cell tumor' SubClassOf 'primary malignant peritoneal tumor' http://www.ebi.ac.uk/efo/EFO_1000890 Dandy-Walker syndrome 'Dandy-Walker syndrome' SubClassOf 'malformation of the cerebellar vermis' http://www.ebi.ac.uk/efo/EFO_0004991 Myasthenia gravis 'Myasthenia gravis' SubClassOf 'immune-mediated acquired neuromuscular junction disease' 'Myasthenia gravis' SubClassOf 'acquired peripheral neuropathy' 'Myasthenia gravis' SubClassOf 'peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect 'atrial heart septal defect' SubClassOf 'atrial defect and interatrial communication' 'atrial heart septal defect' SubClassOf 'hereditary cardiac anomaly' 'atrial heart septal defect' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000852 carcinoid syndrome 'carcinoid syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000855 central core myopathy 'central core myopathy' SubClassOf 'congenital myopathy with cores' http://purl.obolibrary.org/obo/MONDO_0031421 Olmsted syndrome 'Olmsted syndrome' SubClassOf 'autosomal dominant diffuse mutilating palmoplantar keratoderma' 'Olmsted syndrome' SubClassOf 'hereditary palmoplantar keratoderma' http://www.ebi.ac.uk/efo/EFO_1000926 Erdheim-Chester disease 'Erdheim-Chester disease' SubClassOf 'granulomatous autoinflammatory syndrome' 'Erdheim-Chester disease' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1000946 gastric mucosal hypertrophy 'gastric mucosal hypertrophy' SubClassOf 'gastroesophageal disease' http://www.ebi.ac.uk/efo/EFO_1000949 gastroschisis 'gastroschisis' SubClassOf 'primary short bowel syndrome' http://www.ebi.ac.uk/efo/EFO_1000637 acute respiratory distress syndrome 'acute respiratory distress syndrome' SubClassOf 'primary interstitial lung disease specific to adulthood' http://www.ebi.ac.uk/efo/EFO_1000635 hemangioma 'hemangioma' SubClassOf 'vascular anomaly' http://www.ebi.ac.uk/efo/EFO_1000645 orthostatic intolerance 'orthostatic intolerance' SubClassOf 'primary orthostatic hypotension' 'orthostatic intolerance' SubClassOf 'inherited orthostatic hypotension' http://www.ebi.ac.uk/efo/EFO_1000651 recalcitrant atopic dermatitis 'recalcitrant atopic dermatitis' SubClassOf 'atopic eczema' 'recalcitrant atopic dermatitis' SubClassOf 'atopic eczema' http://www.ebi.ac.uk/efo/EFO_1000666 acrokeratosis verruciformis 'acrokeratosis verruciformis' SubClassOf 'acrokeratoderma' 'acrokeratosis verruciformis' SubClassOf 'hereditary skin disorder' 'acrokeratosis verruciformis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1000606 Undifferentiated Pancreatic Carcinoma 'Undifferentiated Pancreatic Carcinoma' SubClassOf 'pancreatic ductal adenocarcinoma' 'Undifferentiated Pancreatic Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005184 http://www.orpha.net/ORDO/Orphanet_1766 Dysequilibrium syndrome 'Dysequilibrium syndrome' SubClassOf 'hereditary neuro-ophthalmological disease' http://www.orpha.net/ORDO/Orphanet_1764 Familial dysautonomia 'Familial dysautonomia' SubClassOf 'hereditary neuro-ophthalmological disease' http://www.ebi.ac.uk/efo/EFO_1000758 punctate palmoplantar keratoderma type III 'punctate palmoplantar keratoderma type III' SubClassOf 'acrokeratoderma' 'punctate palmoplantar keratoderma type III' SubClassOf 'dermis elastic tissue disorder' 'punctate palmoplantar keratoderma type III' SubClassOf 'marginal papular palmoplantar keratoderma' 'punctate palmoplantar keratoderma type III' SubClassOf 'punctate palmoplantar keratoderma' http://www.ebi.ac.uk/efo/EFO_1000779 vulvar seborrheic keratosis 'vulvar seborrheic keratosis' SubClassOf 'inherited skin tumor' http://www.ebi.ac.uk/efo/EFO_1000785 Sezary's disease 'Sezary's disease' SubClassOf 'aggressive primary cutaneous T-cell lymphoma' 'Sezary's disease' SubClassOf 'non-Hodgkins lymphoma' http://www.ebi.ac.uk/efo/EFO_1000701 follicular mucinosis 'follicular mucinosis' SubClassOf 'sebaceous gland anomaly' 'follicular mucinosis' SubClassOf 'sebaceous gland disease' http://www.ebi.ac.uk/efo/EFO_1000468 Peritoneal Multicystic Mesothelioma 'Peritoneal Multicystic Mesothelioma' SubClassOf 'primary malignant peritoneal tumor' http://www.ebi.ac.uk/efo/EFO_1000475 Pineoblastoma 'Pineoblastoma' SubClassOf 'embryonal tumor of neuroepithelial tissue' 'Pineoblastoma' SubClassOf 'pineal tumor of neuroepithelial tissue' 'Pineoblastoma' SubClassOf 'embryonal neoplasm' http://www.ebi.ac.uk/efo/EFO_1000476 Pineocytoma 'Pineocytoma' SubClassOf 'pineal tumor of neuroepithelial tissue' http://www.ebi.ac.uk/efo/EFO_1000474 Pineal Parenchymal Tumor of Intermediate Differentiation 'Pineal Parenchymal Tumor of Intermediate Differentiation' SubClassOf 'pineal parenchymal cell neoplasm' 'Pineal Parenchymal Tumor of Intermediate Differentiation' SubClassOf 'pineal parenchymal cell neoplasm' http://www.ebi.ac.uk/efo/EFO_1000490 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 'Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type' SubClassOf 'aggressive primary cutaneous B-cell lymphoma' 'Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type' SubClassOf 'cancer' http://www.ebi.ac.uk/efo/EFO_1000456 Parathyroid Gland Carcinoma 'Parathyroid Gland Carcinoma' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000453 Paraganglioma 'Paraganglioma' SubClassOf 'inherited neuroendocrine tumor' 'Paraganglioma' SubClassOf 'genetic disorder' 'Paraganglioma' SubClassOf 'neuroendocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_0000174 Ewing sarcoma 'Ewing sarcoma' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0000182 hepatocellular carcinoma 'hepatocellular carcinoma' SubClassOf 'adenocarcinoma of liver and intrahepatic biliary tract' 'hepatocellular carcinoma' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' 'hepatocellular carcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000552 Subcutaneous Panniculitis-Like T-Cell Lymphoma 'Subcutaneous Panniculitis-Like T-Cell Lymphoma' SubClassOf 'inherited skin tumor' http://www.ebi.ac.uk/efo/EFO_1000566 Testicular Germ Cell Tumor 'Testicular Germ Cell Tumor' SubClassOf 'tumor of testis and paratestis' http://purl.obolibrary.org/obo/MONDO_0021651 synpolydactyly 'synpolydactyly' SubClassOf 'syndactyly' 'synpolydactyly' SubClassOf 'polydactyly' 'synpolydactyly' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0031037 famililal cerebral cavernous malformations 'famililal cerebral cavernous malformations' SubClassOf 'hereditary vascular anomaly' 'famililal cerebral cavernous malformations' SubClassOf 'neurovascular malformation' 'famililal cerebral cavernous malformations' SubClassOf 'simple vascular malformation' 'famililal cerebral cavernous malformations' SubClassOf 'neurovascular disorder' 'famililal cerebral cavernous malformations' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016980 ATR-X-related syndrome 'ATR-X-related syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'ATR-X-related syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016994 microcephalic osteodysplastic primordial dwarfism types I and III 'microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'microcephalic primordial dwarfism' 'microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'syndromic disease' 'microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'primordial dwarfism and slender bone disorder' http://purl.obolibrary.org/obo/MONDO_0002429 idiopathic interstitial pneumonia 'idiopathic interstitial pneumonia' SubClassOf 'primary interstitial lung disease specific to adulthood' http://www.ebi.ac.uk/efo/EFO_0005235 primitive neuroectodermal tumor 'primitive neuroectodermal tumor' SubClassOf 'embryonal tumor of neuroepithelial tissue' 'primitive neuroectodermal tumor' SubClassOf 'neuroepithelial neoplasm' 'primitive neuroectodermal tumor' SubClassOf 'embryonal neoplasm' http://purl.obolibrary.org/obo/MONDO_0016899 Duchenne and Becker muscular dystrophy 'Duchenne and Becker muscular dystrophy' SubClassOf 'familial dilated cardiomyopathy' 'Duchenne and Becker muscular dystrophy' SubClassOf 'progressive muscular dystrophy' 'Duchenne and Becker muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016747 primary melanoma of the central nervous system 'primary melanoma of the central nervous system' SubClassOf 'malignant tumor of meninges' 'primary melanoma of the central nervous system' SubClassOf 'primary melanocytic tumor of central nervous system' http://purl.obolibrary.org/obo/MONDO_0016742 mixed germ cell tumor of central nervous system 'mixed germ cell tumor of central nervous system' SubClassOf 'primary germ cell tumor of central nervous system' http://purl.obolibrary.org/obo/MONDO_0016744 primary melanocytic tumor of central nervous system 'primary melanocytic tumor of central nervous system' SubClassOf 'meningeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome 'inherited nervous system cancer-predisposing syndrome' SubClassOf 'disease has feature' some 'nervous system cancer' 'inherited nervous system cancer-predisposing syndrome' SubClassOf 'nervous system disease' 'inherited nervous system cancer-predisposing syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016764 isolated anophthalmia-microphthalmia syndrome 'isolated anophthalmia-microphthalmia syndrome' SubClassOf 'anophthalmia-microphthalmia syndrome' 'isolated anophthalmia-microphthalmia syndrome' EquivalentTo 'anophthalmia-microphthalmia syndrome' and ('bearer_of' some 'has an isolated presentation') 'isolated anophthalmia-microphthalmia syndrome' SubClassOf 'non-syndromic developmental defect of the eye' 'isolated anophthalmia-microphthalmia syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0016760 microcephaly-microcornea syndrome, Seemanova type 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'developmental defect of the eye' 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'disorder of visual system' 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016797 multiple mitochondrial DNA deletion syndrome 'multiple mitochondrial DNA deletion syndrome' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'multiple mitochondrial DNA deletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016798 ataxia neuropathy spectrum 'ataxia neuropathy spectrum' SubClassOf 'multiple mitochondrial DNA deletion syndrome' 'ataxia neuropathy spectrum' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0016794 maternally-inherited mitochondrial myopathy 'maternally-inherited mitochondrial myopathy' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'maternally-inherited mitochondrial myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0005400 chemotherapy-induced alopecia 'chemotherapy-induced alopecia' SubClassOf 'hereditary alopecia' 'chemotherapy-induced alopecia' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0016805 isolated oxidative phosphorylation complex disorder 'isolated oxidative phosphorylation complex disorder' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'isolated oxidative phosphorylation complex disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016807 pure mitochondrial myopathy 'pure mitochondrial myopathy' SubClassOf 'maternally-inherited mitochondrial myopathy' 'pure mitochondrial myopathy' SubClassOf 'mitochondrial disease' http://purl.obolibrary.org/obo/MONDO_0016803 unspecified inborn mitochondrial disorder 'unspecified inborn mitochondrial disorder' SubClassOf 'inborn mitochondrial metabolism disorder' 'unspecified inborn mitochondrial disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016815 Leigh syndrome with leukodystrophy 'Leigh syndrome with leukodystrophy' SubClassOf 'Leigh syndrome' 'Leigh syndrome with leukodystrophy' SubClassOf 'inborn organic aciduria' 'Leigh syndrome with leukodystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016816 Leigh syndrome with nephrotic syndrome 'Leigh syndrome with nephrotic syndrome' SubClassOf 'disease has feature' some 'nephrotic syndrome' 'Leigh syndrome with nephrotic syndrome' SubClassOf 'Leigh syndrome' 'Leigh syndrome with nephrotic syndrome' SubClassOf 'coenzyme Q10 deficiency' 'Leigh syndrome with nephrotic syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016817 Meier-Gorlin syndrome 'Meier-Gorlin syndrome' SubClassOf 'patellar dysostosis' 'Meier-Gorlin syndrome' SubClassOf 'microcephalic primordial dwarfism' 'Meier-Gorlin syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'Meier-Gorlin syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016812 dopa-responsive dystonia 'dopa-responsive dystonia' SubClassOf 'persistent combined dystonia' 'dopa-responsive dystonia' SubClassOf 'nervous system disease' 'dopa-responsive dystonia' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0016810 autosomal recessive progressive external ophthalmoplegia 'autosomal recessive progressive external ophthalmoplegia' SubClassOf 'multiple mitochondrial DNA deletion syndrome' http://purl.obolibrary.org/obo/MONDO_0016827 myopathy-growth delay-intellectual disability-hypospadias syndrome 'myopathy-growth delay-intellectual disability-hypospadias syndrome' SubClassOf 'syndromic urogenital tract malformation' 'myopathy-growth delay-intellectual disability-hypospadias syndrome' SubClassOf 'syndromic disease' 'myopathy-growth delay-intellectual disability-hypospadias syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016824 infantile myofibromatosis 'infantile myofibromatosis' SubClassOf 'benign neoplasm of skin' 'infantile myofibromatosis' SubClassOf 'inherited soft tissue tumor' 'infantile myofibromatosis' SubClassOf 'inherited skin tumor' 'infantile myofibromatosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016820 Moyamoya disease 'Moyamoya disease' SubClassOf 'Moyomoya angiopathy' http://purl.obolibrary.org/obo/MONDO_0016622 Melhem-Fahl syndrome 'Melhem-Fahl syndrome' SubClassOf 'dysostosis of genetic origin' 'Melhem-Fahl syndrome' SubClassOf 'syndromic disease' 'Melhem-Fahl syndrome' SubClassOf 'dysostosis' 'Melhem-Fahl syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016639 lower limb deficiency-hypospadias syndrome 'lower limb deficiency-hypospadias syndrome' SubClassOf 'syndromic urogenital tract malformation' 'lower limb deficiency-hypospadias syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016630 isolated delta-storage pool disease 'isolated delta-storage pool disease' SubClassOf 'isolated constitutional thrombocytopenia' 'isolated delta-storage pool disease' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0016647 autosomal recessive Stickler syndrome 'autosomal recessive Stickler syndrome' SubClassOf 'multiple epiphyseal dysplasia and pseudoachondroplasia' 'autosomal recessive Stickler syndrome' SubClassOf 'autosomal recessive disease' 'autosomal recessive Stickler syndrome' SubClassOf 'Stickler syndrome' 'autosomal recessive Stickler syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016648 multiple epiphyseal dysplasia 'multiple epiphyseal dysplasia' SubClassOf 'multiple epiphyseal dysplasia and pseudoachondroplasia' 'multiple epiphyseal dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0016643 frontonasal dysplasia 'frontonasal dysplasia' SubClassOf 'dysostosis of genetic origin' 'frontonasal dysplasia' SubClassOf 'dysostosis' 'frontonasal dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016641 limb transversal defect-cardiac anomaly syndrome 'limb transversal defect-cardiac anomaly syndrome' SubClassOf 'dysostosis of genetic origin' 'limb transversal defect-cardiac anomaly syndrome' SubClassOf 'genetic disorder' 'limb transversal defect-cardiac anomaly syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0016658 8p23.1 microdeletion syndrome '8p23.1 microdeletion syndrome' SubClassOf 'syndromic urogenital tract malformation' '8p23.1 microdeletion syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016668 sickle cell-beta-thalassemia disease syndrome 'sickle cell-beta-thalassemia disease syndrome' SubClassOf 'sickle cell disease associated with an other hemoglobin anomaly' 'sickle cell-beta-thalassemia disease syndrome' SubClassOf 'syndromic disease' 'sickle cell-beta-thalassemia disease syndrome' SubClassOf 'inherited hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0016669 sickle cell-hemoglobin c disease syndrome 'sickle cell-hemoglobin c disease syndrome' SubClassOf 'sickle cell disease associated with an other hemoglobin anomaly' 'sickle cell-hemoglobin c disease syndrome' SubClassOf 'sickle cell anemia' 'sickle cell-hemoglobin c disease syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016667 sickle cell disease associated with an other hemoglobin anomaly 'sickle cell disease associated with an other hemoglobin anomaly' SubClassOf 'sickle cell disease and related diseases' 'sickle cell disease associated with an other hemoglobin anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016660 autosomal recessive primary microcephaly 'autosomal recessive primary microcephaly' SubClassOf 'hereditary cerebral malformation' http://purl.obolibrary.org/obo/MONDO_0016678 maternal disease-related embryofetopathy 'maternal disease-related embryofetopathy' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0016671 sickle cell-hemoglobin E disease syndrome 'sickle cell-hemoglobin E disease syndrome' SubClassOf 'sickle cell disease associated with an other hemoglobin anomaly' 'sickle cell-hemoglobin E disease syndrome' SubClassOf 'syndromic disease' 'sickle cell-hemoglobin E disease syndrome' SubClassOf 'inherited hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 'hereditary persistence of fetal hemoglobin-sickle cell disease syndrome' SubClassOf 'sickle cell disease associated with an other hemoglobin anomaly' 'hereditary persistence of fetal hemoglobin-sickle cell disease syndrome' SubClassOf 'syndromic disease' 'hereditary persistence of fetal hemoglobin-sickle cell disease syndrome' SubClassOf 'inherited hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0016674 46,XY partial gonadal dysgenesis '46,XY partial gonadal dysgenesis' SubClassOf '46,XY disorder of gonadal development' '46,XY partial gonadal dysgenesis' SubClassOf '46,XY disorder of sex development' '46,XY partial gonadal dysgenesis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016670 sickle cell-hemoglobin d disease syndrome 'sickle cell-hemoglobin d disease syndrome' SubClassOf 'sickle cell disease associated with an other hemoglobin anomaly' 'sickle cell-hemoglobin d disease syndrome' SubClassOf 'syndromic disease' 'sickle cell-hemoglobin d disease syndrome' SubClassOf 'inherited hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0100485 KCNH1 associated disorder 'KCNH1 associated disorder' SubClassOf 'Neurodevelopmental disorder' 'KCNH1 associated disorder' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0100521 NOG-related symphalangism spectrum disorder 'NOG-related symphalangism spectrum disorder' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0100523 SPAST-related motor disorder 'SPAST-related motor disorder' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0005304 atrial conduction disease 'atrial conduction disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016708 embryonal tumor of neuroepithelial tissue 'embryonal tumor of neuroepithelial tissue' SubClassOf 'embryonal neoplasm' 'embryonal tumor of neuroepithelial tissue' SubClassOf 'neuroepithelial neoplasm' 'embryonal tumor of neuroepithelial tissue' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016701 oligoastrocytic tumor 'oligoastrocytic tumor' SubClassOf 'Malignant Mixed Neoplasm' 'oligoastrocytic tumor' SubClassOf 'malignant glioma' 'oligoastrocytic tumor' SubClassOf 'mixed glioma' 'oligoastrocytic tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor 'central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor' SubClassOf 'embryonal tumor of neuroepithelial tissue' http://purl.obolibrary.org/obo/MONDO_0016727 extraventricular neurocytoma 'extraventricular neurocytoma' SubClassOf 'neuronal tumor' http://purl.obolibrary.org/obo/MONDO_0016726 neuronal tumor 'neuronal tumor' SubClassOf 'neuroepithelial neoplasm' 'neuronal tumor' SubClassOf 'bearer_of' some 'rare' 'neuronal tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016721 pineal tumor of neuroepithelial tissue 'pineal tumor of neuroepithelial tissue' SubClassOf 'bearer_of' some 'rare' 'pineal tumor of neuroepithelial tissue' SubClassOf 'neuroepithelial neoplasm' 'pineal tumor of neuroepithelial tissue' SubClassOf 'pineal body neoplasm' http://purl.obolibrary.org/obo/MONDO_0016738 primary germ cell tumor of central nervous system 'primary germ cell tumor of central nervous system' SubClassOf 'nervous system neoplasm' 'primary germ cell tumor of central nervous system' SubClassOf 'extragonadal germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0016518 isolated punctate palmoplantar keratoderma 'isolated punctate palmoplantar keratoderma' EquivalentTo 'punctate palmoplantar keratoderma' and ('bearer_of' some 'has an isolated presentation') 'isolated punctate palmoplantar keratoderma' SubClassOf 'bearer_of' some 'has an isolated presentation' 'isolated punctate palmoplantar keratoderma' SubClassOf 'punctate palmoplantar keratoderma' 'isolated punctate palmoplantar keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016516 Kenny-Caffey syndrome 'Kenny-Caffey syndrome' SubClassOf 'slender bone dysplasia' 'Kenny-Caffey syndrome' SubClassOf 'primordial dwarfism and slender bone disorder' http://purl.obolibrary.org/obo/MONDO_0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome 'epibulbar lipodermoid-preauricular appendage-polythelia syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'epibulbar lipodermoid-preauricular appendage-polythelia syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0016513 alpha-thalassemia-related diseases 'alpha-thalassemia-related diseases' SubClassOf 'disease shares features of' some 'alpha thalassemia' 'alpha-thalassemia-related diseases' SubClassOf 'alpha-thalassemia and related diseases' 'alpha-thalassemia-related diseases' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016529 duplication of urethra 'duplication of urethra' SubClassOf 'non-syndromic renal or urinary tract malformation' 'duplication of urethra' SubClassOf 'bearer_of' some 'rare' 'duplication of urethra' SubClassOf 'kidney disease' 'duplication of urethra' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0016521 muscular pseudohypertrophy-hypothyroidism syndrome 'muscular pseudohypertrophy-hypothyroidism syndrome' SubClassOf 'syndromic hypothyroidism' 'muscular pseudohypertrophy-hypothyroidism syndrome' SubClassOf 'syndromic disease' 'muscular pseudohypertrophy-hypothyroidism syndrome' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0016523 bronchogenic cyst 'bronchogenic cyst' SubClassOf 'non-syndromic respiratory or mediastinal malformation' 'bronchogenic cyst' SubClassOf 'respiratory malformation' 'bronchogenic cyst' SubClassOf 'disorder of development or morphogenesis' 'bronchogenic cyst' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0016524 congenital vascular bone syndrome 'congenital vascular bone syndrome' SubClassOf 'bearer_of' some 'rare' 'congenital vascular bone syndrome' SubClassOf 'bone disease' 'congenital vascular bone syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016520 isolated Klippel-Feil syndrome 'isolated Klippel-Feil syndrome' SubClassOf 'bearer_of' some 'has an isolated presentation' 'isolated Klippel-Feil syndrome' SubClassOf 'Klippel-Feil syndrome' 'isolated Klippel-Feil syndrome' EquivalentTo 'Klippel-Feil syndrome' and ('bearer_of' some 'has an isolated presentation') 'isolated Klippel-Feil syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016536 autosomal recessive lymphoproliferative disease 'autosomal recessive lymphoproliferative disease' SubClassOf 'lymphoproliferative syndrome' 'autosomal recessive lymphoproliferative disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016535 hypohidrotic ectodermal dysplasia 'hypohidrotic ectodermal dysplasia' SubClassOf 'congenital alacrima' http://purl.obolibrary.org/obo/MONDO_0016531 digestive duplication 'digestive duplication' SubClassOf 'non-syndromic intestinal malformation' 'digestive duplication' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf 'disorder of pterin metabolism' 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf 'amino acid metabolism disease' 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0016565 syndromic genetic obesity 'syndromic genetic obesity' SubClassOf 'inherited obesity' 'syndromic genetic obesity' SubClassOf 'overgrowth/obesity syndrome' 'syndromic genetic obesity' SubClassOf 'syndromic disease' 'syndromic genetic obesity' EquivalentTo 'inherited obesity' and ('bearer_of' some 'has a syndromic presentation') 'syndromic genetic obesity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016568 Lowe-Kohn-Cohen syndrome 'Lowe-Kohn-Cohen syndrome' SubClassOf 'syndromic anorectal malformation' 'Lowe-Kohn-Cohen syndrome' SubClassOf 'syndromic disease' 'Lowe-Kohn-Cohen syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0016576 split hand-foot malformation 'split hand-foot malformation' SubClassOf 'dysostosis of genetic origin' 'split hand-foot malformation' SubClassOf 'split hand or/and split foot malformation' 'split hand-foot malformation' SubClassOf 'dysostosis' 'split hand-foot malformation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016579 dominant hypophosphatemia with nephrolithiasis or osteoporosis 'dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf 'inherited renal tubular disease' 'dominant hypophosphatemia with nephrolithiasis or osteoporosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016589 progressive cerebello-cerebral atrophy 'progressive cerebello-cerebral atrophy' SubClassOf 'disorder of development or morphogenesis' 'progressive cerebello-cerebral atrophy' SubClassOf 'bearer_of' some 'rare' 'progressive cerebello-cerebral atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016583 familial intestinal malrotation-facial anomalies syndrome 'familial intestinal malrotation-facial anomalies syndrome' SubClassOf 'syndromic intestinal malformation' 'familial intestinal malrotation-facial anomalies syndrome' SubClassOf 'disorder of development or morphogenesis' 'familial intestinal malrotation-facial anomalies syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016581 conotruncal heart malformations 'conotruncal heart malformations' SubClassOf 'transposition of the great arteries and conotruncal cardiac anomaly' 'conotruncal heart malformations' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0016599 autosomal dominant secondary polycythemia 'autosomal dominant secondary polycythemia' SubClassOf 'congenital secondary polycythemia' 'autosomal dominant secondary polycythemia' SubClassOf 'autosomal dominant disease' 'autosomal dominant secondary polycythemia' SubClassOf 'familial polycythemia' 'autosomal dominant secondary polycythemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016596 hyperphosphatasia-intellectual disability syndrome 'hyperphosphatasia-intellectual disability syndrome' SubClassOf 'dysostosis of genetic origin' 'hyperphosphatasia-intellectual disability syndrome' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 'hyperphosphatasia-intellectual disability syndrome' SubClassOf 'syndromic dyslipidemia' 'hyperphosphatasia-intellectual disability syndrome' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0100350 neuronopathy, distal hereditary motor, type 5 'neuronopathy, distal hereditary motor, type 5' SubClassOf 'neuronopathy, distal hereditary motor' 'neuronopathy, distal hereditary motor, type 5' SubClassOf 'autosomal dominant distal hereditary motor neuropathy' http://www.orpha.net/ORDO/Orphanet_352403 Spectrin-associated autosomal recessive cerebellar ataxia 'Spectrin-associated autosomal recessive cerebellar ataxia' SubClassOf 'hereditary neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0016608 megalencephaly 'megalencephaly' SubClassOf 'cerebral malformation' 'megalencephaly' SubClassOf 'brain disease' 'megalencephaly' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0016409 primary congenital hypothyroidism 'primary congenital hypothyroidism' SubClassOf 'permanent congenital hypothyroidism' 'primary congenital hypothyroidism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016417 congenital ichthyosis-microcephalus-tetraplegia syndrome 'congenital ichthyosis-microcephalus-tetraplegia syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'congenital ichthyosis-microcephalus-tetraplegia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016428 multiple sclerosis variant 'multiple sclerosis variant' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0016434 acquired dermis elastic tissue disorder 'acquired dermis elastic tissue disorder' EquivalentTo 'dermis elastic tissue disorder' and ('bearer_of' some 'acquired') 'acquired dermis elastic tissue disorder' SubClassOf 'dermis elastic tissue disorder' 'acquired dermis elastic tissue disorder' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0016432 heart-hand syndrome 'heart-hand syndrome' SubClassOf 'dysostosis of genetic origin' 'heart-hand syndrome' SubClassOf 'syndromic disease' 'heart-hand syndrome' SubClassOf 'dysostosis' 'heart-hand syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016445 familial anetoderma 'familial anetoderma' SubClassOf 'dermis elastic tissue disorder' 'familial anetoderma' SubClassOf 'dermis disorder' http://purl.obolibrary.org/obo/MONDO_0016446 acquired cutis laxa 'acquired cutis laxa' SubClassOf 'acquired dermis elastic tissue disorder' 'acquired cutis laxa' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome 'ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome' SubClassOf 'excretory apparatus of the lacrimal system anomaly' 'ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome' SubClassOf 'eyelids malposition disorder' 'ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0100294 mitochondrial complex II deficiency, nuclear type 1 'mitochondrial complex II deficiency, nuclear type 1' SubClassOf 'isolated oxidative phosphorylation complex disorder' http://purl.obolibrary.org/obo/MONDO_0016473 familial rhabdoid tumor 'familial rhabdoid tumor' SubClassOf 'inherited soft tissue tumor' http://purl.obolibrary.org/obo/MONDO_0016483 intracranial berry aneurysm 'intracranial berry aneurysm' SubClassOf 'neurovascular malformation' http://purl.obolibrary.org/obo/MONDO_0100283 overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 'overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes' SubClassOf 'overgrowth/obesity syndrome' http://purl.obolibrary.org/obo/MONDO_0016493 variant of Guillain-Barre syndrome 'variant of Guillain-Barre syndrome' SubClassOf 'Guillain-Barre syndrome' http://purl.obolibrary.org/obo/MONDO_0016494 regional variant of Guillain-Barre syndrome 'regional variant of Guillain-Barre syndrome' SubClassOf 'variant of Guillain-Barre syndrome' http://purl.obolibrary.org/obo/MONDO_0100250 46,XX sex reversal 1 '46,XX sex reversal 1' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100253 Roberts-SC phocomelia syndrome 'Roberts-SC phocomelia syndrome' SubClassOf 'syndromic disease' 'Roberts-SC phocomelia syndrome' SubClassOf 'non-syndromic limb reduction defect' 'Roberts-SC phocomelia syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0100254 CACNA1A-related complex neurodevelopmental disorder 'CACNA1A-related complex neurodevelopmental disorder' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0100236 LTBP2-related ocular dysgenesis 'LTBP2-related ocular dysgenesis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100237 inherited cutis laxa 'inherited cutis laxa' SubClassOf 'hereditary skin disorder' 'inherited cutis laxa' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100343 antenatal Bartter syndrome 'antenatal Bartter syndrome' SubClassOf 'Bartter syndrome' 'antenatal Bartter syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100344 Bartter disease type 1 'Bartter disease type 1' SubClassOf 'antenatal Bartter syndrome' 'Bartter disease type 1' SubClassOf 'Bartter syndrome' http://www.ebi.ac.uk/efo/EFO_0005542 botulism 'botulism' SubClassOf 'acquired neuromuscular junction disease' 'botulism' SubClassOf 'infectious disorder of the nervous system' 'botulism' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016311 Bockenheimer syndrome 'Bockenheimer syndrome' SubClassOf 'simple vascular malformation' http://purl.obolibrary.org/obo/MONDO_0016323 chronic respiratory distress with surfactant metabolism deficiency 'chronic respiratory distress with surfactant metabolism deficiency' SubClassOf 'primary interstitial lung disease in childhood and adulthood' http://purl.obolibrary.org/obo/MONDO_0016346 hydrocephalus-obesity-hypogonadism syndrome 'hydrocephalus-obesity-hypogonadism syndrome' SubClassOf 'syndromic genetic obesity' 'hydrocephalus-obesity-hypogonadism syndrome' SubClassOf 'syndromic disease' 'hydrocephalus-obesity-hypogonadism syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016344 hydranencephaly 'hydranencephaly' SubClassOf 'hereditary cerebral malformation' http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency 'apolipoprotein A-I deficiency' SubClassOf 'hypoalphalipoproteinemia' 'apolipoprotein A-I deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016352 idiopathic inherited hypercalciuria 'idiopathic inherited hypercalciuria' SubClassOf 'idiopathic disease' 'idiopathic inherited hypercalciuria' SubClassOf 'inherited renal tubular disease' 'idiopathic inherited hypercalciuria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016353 palmoplantar keratoderma-spastic paralysis syndrome 'palmoplantar keratoderma-spastic paralysis syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0016354 xeroderma pigmentosum-Cockayne syndrome complex 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'syndromic retinitis pigmentosa' 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016355 semilobar holoprosencephaly 'semilobar holoprosencephaly' SubClassOf 'holoprosencephaly' 'semilobar holoprosencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100154 TUBB3-related tubulinopathy 'TUBB3-related tubulinopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016364 Joubert syndrome with ocular defect 'Joubert syndrome with ocular defect' SubClassOf 'developmental anomaly of metabolic origin' 'Joubert syndrome with ocular defect' SubClassOf 'syndromic retinitis pigmentosa' 'Joubert syndrome with ocular defect' SubClassOf 'disorder of visual system' 'Joubert syndrome with ocular defect' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016366 maternal phenylketonuria 'maternal phenylketonuria' SubClassOf 'hereditary otorhinolaryngologic disease' 'maternal phenylketonuria' SubClassOf 'teratogenic Pierre Robin syndrome' 'maternal phenylketonuria' SubClassOf 'maternal disease-related embryofetopathy' 'maternal phenylketonuria' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0016361 isolated hereditary giant platelet disorder 'isolated hereditary giant platelet disorder' SubClassOf 'isolated constitutional thrombocytopenia' 'isolated hereditary giant platelet disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016375 acquired peripheral movement disorder 'acquired peripheral movement disorder' SubClassOf 'acquired peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 'hypogonadotropic hypogonadism-retinitis pigmentosa syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'hypogonadotropic hypogonadism-retinitis pigmentosa syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0100147 SATB2 associated disorder 'SATB2 associated disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016396 pontocerebellar hypoplasia type 1 'pontocerebellar hypoplasia type 1' SubClassOf 'non-syndromic central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive 'growth hormone insensitivity with immune dysregulation 1, autosomal recessive' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'growth hormone insensitivity with immune dysregulation 1, autosomal recessive' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0100212 IFAP syndrome 'IFAP syndrome' SubClassOf 'inherited ichthyosis syndromic form' 'IFAP syndrome' SubClassOf 'syndromic disease' 'IFAP syndrome' SubClassOf 'inherited ichthyosis' http://purl.obolibrary.org/obo/MONDO_0100213 IFAP syndrome with or without BRESHECK syndrome 'IFAP syndrome with or without BRESHECK syndrome' SubClassOf 'X-linked ichthyosis syndrome' http://purl.obolibrary.org/obo/MONDO_0100228 LAMA2-related muscular dystrophy 'LAMA2-related muscular dystrophy' SubClassOf 'qualitative or quantitative defects of merosin' http://www.orpha.net/ORDO/Orphanet_77298 Anophthalmia/microphthalmia - esophageal atresia 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf 'anophthalmia-microphthalmia syndrome' 'Anophthalmia/microphthalmia - esophageal atresia' SubClassOf http://www.ebi.ac.uk/efo/EFO_0700119 http://www.orpha.net/ORDO/Orphanet_77299 Microphthalmia - brain atrophy 'Microphthalmia - brain atrophy' SubClassOf 'anophthalmia-microphthalmia syndrome' 'Microphthalmia - brain atrophy' SubClassOf http://www.ebi.ac.uk/efo/EFO_0700119 http://purl.obolibrary.org/obo/MONDO_0100091 inherited pseudoxanthoma elasticum 'inherited pseudoxanthoma elasticum' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016200 qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 'qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016201 qualitative or quantitative defects of myotilin 'qualitative or quantitative defects of myotilin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of myotilin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 'hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1' SubClassOf 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' 'hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1' SubClassOf 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' http://purl.obolibrary.org/obo/MONDO_0100089 GATA1-Related X-Linked Cytopenia 'GATA1-Related X-Linked Cytopenia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016229 hereditary vascular anomaly 'hereditary vascular anomaly' SubClassOf 'disorder of development or morphogenesis' 'hereditary vascular anomaly' EquivalentTo 'vascular anomaly' and ('bearer_of' some 'inherited') 'hereditary vascular anomaly' SubClassOf 'vascular anomaly' 'hereditary vascular anomaly' SubClassOf 'genetic disorder' 'hereditary vascular anomaly' SubClassOf 'bearer_of' some 'rare' 'hereditary vascular anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016224 autosomal dominant proximal spinal muscular atrophy 'autosomal dominant proximal spinal muscular atrophy' SubClassOf 'proximal spinal muscular atrophy' 'autosomal dominant proximal spinal muscular atrophy' SubClassOf 'autosomal dominant disease' 'autosomal dominant proximal spinal muscular atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100061 PRPS1 deficiency disorder 'PRPS1 deficiency disorder' SubClassOf 'peripheral neuropathy' 'PRPS1 deficiency disorder' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0016231 capillary malformation 'capillary malformation' SubClassOf 'simple vascular malformation' 'capillary malformation' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0016230 simple vascular malformation 'simple vascular malformation' SubClassOf 'vascular anomaly' http://purl.obolibrary.org/obo/MONDO_0016240 hemimelia 'hemimelia' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0100040 FOXG1 disorder 'FOXG1 disorder' SubClassOf 'motor stereotypies' http://purl.obolibrary.org/obo/MONDO_0016256 Hennekam syndrome 'Hennekam syndrome' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'Hennekam syndrome' SubClassOf 'syndromic lymphedema' 'Hennekam syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016281 46,XX ovotesticular disorder of sex development '46,XX ovotesticular disorder of sex development' SubClassOf '46,XX disorder of gonadal development' '46,XX ovotesticular disorder of sex development' SubClassOf 'bearer_of' some 'rare' '46,XX ovotesticular disorder of sex development' SubClassOf 'disorder of sexual differentiation' http://purl.obolibrary.org/obo/MONDO_0100009 structural congenital heart disease, multiple types - GATA4 'structural congenital heart disease, multiple types - GATA4' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016294 Hirschsprung disease-type D brachydactyly syndrome 'Hirschsprung disease-type D brachydactyly syndrome' SubClassOf 'syndromic anorectal malformation' 'Hirschsprung disease-type D brachydactyly syndrome' SubClassOf 'bearer_of' some 'rare' 'Hirschsprung disease-type D brachydactyly syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly 'holoprosencephaly' SubClassOf 'midline cerebral malformation' 'holoprosencephaly' SubClassOf 'hereditary cerebral malformation' 'holoprosencephaly' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_28378 Tyrosinemia type 2 'Tyrosinemia type 2' SubClassOf 'inherited ichthyosis syndromic form' http://www.orpha.net/ORDO/Orphanet_73220 X-linked intellectual disability - hypotonic face 'X-linked intellectual disability - hypotonic face' SubClassOf 'ATR-X-related syndrome' 'X-linked intellectual disability - hypotonic face' SubClassOf 'X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012608 autosomal recessive lower motor neuron disease with childhood onset 'autosomal recessive lower motor neuron disease with childhood onset' SubClassOf 'generalized bulbospinal muscular atrophy' 'autosomal recessive lower motor neuron disease with childhood onset' SubClassOf 'spinal muscular atrophy' 'autosomal recessive lower motor neuron disease with childhood onset' SubClassOf 'autosomal recessive distal hereditary motor neuropathy' http://purl.obolibrary.org/obo/MONDO_0012637 COG1-congenital disorder of glycosylation 'COG1-congenital disorder of glycosylation' SubClassOf 'dysostosis of genetic origin' 'COG1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 'COG1-congenital disorder of glycosylation' SubClassOf 'developmental anomaly of metabolic origin' 'COG1-congenital disorder of glycosylation' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012638 microphthalmia-brain atrophy syndrome 'microphthalmia-brain atrophy syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012639 hereditary spastic paraplegia 18 'hereditary spastic paraplegia 18' SubClassOf 'autosomal recessive complex spastic paraplegia' 'hereditary spastic paraplegia 18' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012634 craniofacial dysplasia - osteopenia syndrome 'craniofacial dysplasia - osteopenia syndrome' SubClassOf 'cranial malformation' 'craniofacial dysplasia - osteopenia syndrome' SubClassOf 'disorder of development or morphogenesis' 'craniofacial dysplasia - osteopenia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012643 hereditary spastic paraplegia 32 'hereditary spastic paraplegia 32' SubClassOf 'autosomal recessive complex spastic paraplegia' 'hereditary spastic paraplegia 32' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012658 brachydactyly type B2 'brachydactyly type B2' SubClassOf 'dysostosis with brachydactyly without extraskeletal manifestations' http://purl.obolibrary.org/obo/MONDO_0012651 spastic ataxia 2 'spastic ataxia 2' SubClassOf 'autosomal recessive spastic ataxia' 'spastic ataxia 2' SubClassOf 'autosomal recessive complex spastic paraplegia' 'spastic ataxia 2' SubClassOf 'spastic ataxia' 'spastic ataxia 2' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012675 corticosteroid-binding globulin deficiency 'corticosteroid-binding globulin deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012699 autosomal recessive limb-girdle muscular dystrophy type 2M 'autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'disorder of O-mannosylglycan synthesis' http://www.ebi.ac.uk/efo/EFO_0009538 chronic inflammatory demyelinating polyneuropathy 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'inherited neurodegenerative disorder' 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'hereditary peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0009539 congenital mitral malformation 'congenital mitral malformation' SubClassOf 'atrioventricular valve anomaly' 'congenital mitral malformation' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome 'camptodactyly-tall stature-scoliosis-hearing loss syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0012516 mandibulofacial dysostosis-microcephaly syndrome 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'dysostosis with predominant craniofacial involvement' 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'branchial arch or oral-acral syndrome' http://purl.obolibrary.org/obo/MONDO_0012526 hereditary angioedema type 3 'hereditary angioedema type 3' SubClassOf 'hereditary angioedema with normal C1Inh' 'hereditary angioedema type 3' SubClassOf 'hereditary angioedema' http://purl.obolibrary.org/obo/MONDO_0012520 insulin-resistance syndrome type A 'insulin-resistance syndrome type A' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012524 corticosterone methyloxidase type 2 deficiency 'corticosterone methyloxidase type 2 deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome 'palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome' SubClassOf 'hereditary 46,XX disorder of sex development' 'palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome' SubClassOf '46,XX disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0012559 primary immunodeficiency syndrome due to p14 deficiency 'primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012556 DK1-congenital disorder of glycosylation 'DK1-congenital disorder of glycosylation' SubClassOf 'autosomal ichthyosis syndrome' 'DK1-congenital disorder of glycosylation' SubClassOf 'syndromic disease' 'DK1-congenital disorder of glycosylation' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0012574 Potocki-Lupski syndrome 'Potocki-Lupski syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'dermis elastic tissue disorder' 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0012589 Pitt-Hopkins syndrome 'Pitt-Hopkins syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012580 hereditary pulmonary alveolar proteinosis 'hereditary pulmonary alveolar proteinosis' SubClassOf 'quantitative and/or qualitative congenital phagocyte defect' 'hereditary pulmonary alveolar proteinosis' SubClassOf 'pulmonary alveolar proteinosis' 'hereditary pulmonary alveolar proteinosis' SubClassOf 'genetic disorder' 'hereditary pulmonary alveolar proteinosis' SubClassOf 'pulmonary alveolar proteinosis' http://purl.obolibrary.org/obo/MONDO_0012593 brain-lung-thyroid syndrome 'brain-lung-thyroid syndrome' SubClassOf 'syndromic hypothyroidism' 'brain-lung-thyroid syndrome' SubClassOf 'congenital nervous system disorder' 'brain-lung-thyroid syndrome' SubClassOf 'endocrine system disease' 'brain-lung-thyroid syndrome' SubClassOf 'syndromic disease' 'brain-lung-thyroid syndrome' SubClassOf 'genetic disorder' 'brain-lung-thyroid syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome 'osteosclerosis-ichthyosis-premature ovarian failure syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'osteosclerosis-ichthyosis-premature ovarian failure syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 'primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' http://purl.obolibrary.org/obo/MONDO_0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant 'neuronal ceroid lipofuscinosis 8 northern epilepsy variant' SubClassOf 'monogenic epilepsy' 'neuronal ceroid lipofuscinosis 8 northern epilepsy variant' SubClassOf 'progressive myoclonus epilepsy' http://www.orpha.net/ORDO/Orphanet_48431 Congenital cataracts - facial dysmorphism - neuropathy 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'hereditary neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0012407 pyridoxal phosphate-responsive seizures 'pyridoxal phosphate-responsive seizures' SubClassOf 'disorder of other vitamins and cofactors metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0012400 cortical dysplasia-focal epilepsy syndrome 'cortical dysplasia-focal epilepsy syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012401 congenital stromal corneal dystrophy 'congenital stromal corneal dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012423 MORM syndrome 'MORM syndrome' SubClassOf 'syndromic genetic obesity' 'MORM syndrome' SubClassOf 'inherited retinal dystrophy' 'MORM syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012446 seborrhea-like dermatitis with psoriasiform elements 'seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0012453 hereditary spastic paraplegia 31 'hereditary spastic paraplegia 31' SubClassOf 'pure or complex autosomal dominant spastic paraplegia' 'hereditary spastic paraplegia 31' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012462 autosomal recessive frontotemporal pachygyria 'autosomal recessive frontotemporal pachygyria' SubClassOf 'cerebral malformation' 'autosomal recessive frontotemporal pachygyria' SubClassOf 'disorder of development or morphogenesis' 'autosomal recessive frontotemporal pachygyria' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0012476 hereditary spastic paraplegia 30 'hereditary spastic paraplegia 30' SubClassOf 'pure or complex autosomal dominant spastic paraplegia' 'hereditary spastic paraplegia 30' SubClassOf 'pure or complex autosomal recessive spastic paraplegia' 'hereditary spastic paraplegia 30' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012479 congenital malabsorptive diarrhea 4 'congenital malabsorptive diarrhea 4' SubClassOf 'congenital enteropathy involving intestinal mucosa development' http://purl.obolibrary.org/obo/MONDO_0012496 Koolen-de Vries syndrome 'Koolen-de Vries syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012280 Goldberg-Shprintzen megacolon syndrome 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'eyelids malposition disorder' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'syndromic anorectal malformation' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'syndromic disease' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012282 Al-Gazali syndrome 'Al-Gazali syndrome' SubClassOf 'dysostosis of genetic origin' 'Al-Gazali syndrome' SubClassOf 'skeletal system disease' 'Al-Gazali syndrome' SubClassOf 'syndromic disease' 'Al-Gazali syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012297 SPOAN syndrome 'SPOAN syndrome' SubClassOf 'spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' 'SPOAN syndrome' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012290 CEDNIK syndrome 'CEDNIK syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'CEDNIK syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012296 lipomyelomeningocele 'lipomyelomeningocele' SubClassOf 'neural tube closure defect' 'lipomyelomeningocele' SubClassOf 'neural tube defect' http://www.ebi.ac.uk/efo/EFO_0020094 Lambert-Eaton myasthenic syndrome 'Lambert-Eaton myasthenic syndrome' SubClassOf 'immune-mediated acquired neuromuscular junction disease' http://purl.obolibrary.org/obo/MONDO_0012316 Majeed syndrome 'Majeed syndrome' SubClassOf 'hereditary inflammatory or rheumatoid-like osteoarthropathy' 'Majeed syndrome' SubClassOf 'constitutional dyserythropoietic anemia' 'Majeed syndrome' SubClassOf 'pyogenic autoinflammatory syndrome' 'Majeed syndrome' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'Majeed syndrome' SubClassOf 'immune system disease' 'Majeed syndrome' SubClassOf 'hematologic disease' 'Majeed syndrome' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0012322 holoprosencephaly 5 'holoprosencephaly 5' SubClassOf 'septopreoptic holoprosencephaly' 'holoprosencephaly 5' SubClassOf 'midline interhemispheric variant of holoprosencephaly' 'holoprosencephaly 5' SubClassOf 'semilobar holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0012350 complement factor H deficiency 'complement factor H deficiency' SubClassOf 'hereditary nephritis' http://purl.obolibrary.org/obo/MONDO_0012155 choanal atresia 'choanal atresia' SubClassOf 'nose and cavum anomaly' http://purl.obolibrary.org/obo/MONDO_0012165 BNAR syndrome 'BNAR syndrome' SubClassOf 'syndromic anorectal malformation' 'BNAR syndrome' SubClassOf 'hereditary otorhinolaryngologic disease' 'BNAR syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012164 Meacham syndrome 'Meacham syndrome' SubClassOf 'syndromic uterovaginal malformation' 'Meacham syndrome' SubClassOf 'syndromic disease' 'Meacham syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012181 hereditary spastic paraplegia 27 'hereditary spastic paraplegia 27' SubClassOf 'autosomal recessive complex spastic paraplegia' 'hereditary spastic paraplegia 27' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome 'nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome' SubClassOf 'disease of glomerular basement membrane' 'nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome' SubClassOf 'inherited kidney disorder' http://purl.obolibrary.org/obo/MONDO_0036192 EN1-related dorsoventral syndrome 'EN1-related dorsoventral syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012208 congenital reticular ichthyosiform erythroderma 'congenital reticular ichthyosiform erythroderma' SubClassOf 'inherited non-syndromic ichthyosis' 'congenital reticular ichthyosiform erythroderma' SubClassOf 'inherited ichthyosis' http://purl.obolibrary.org/obo/MONDO_0012204 familial pseudohyperkalemia 'familial pseudohyperkalemia' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0012203 familial hyperthyroidism due to mutations in TSH receptor 'familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012215 myofibrillar myopathy 3 'myofibrillar myopathy 3' SubClassOf 'qualitative or quantitative defects of myotilin' http://purl.obolibrary.org/obo/MONDO_0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 'foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome' SubClassOf 'inherited vitreous-retinal disease' 'foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012213 hereditary spastic paraplegia 26 'hereditary spastic paraplegia 26' SubClassOf 'autosomal recessive complex spastic paraplegia' 'hereditary spastic paraplegia 26' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012248 autosomal recessive limb-girdle muscular dystrophy type 2K 'autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'disorder of O-mannosylglycan synthesis' http://purl.obolibrary.org/obo/MONDO_0012256 hereditary spastic paraplegia 28 'hereditary spastic paraplegia 28' SubClassOf 'autosomal recessive pure spastic paraplegia' 'hereditary spastic paraplegia 28' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012251 MEDNIK syndrome 'MEDNIK syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'MEDNIK syndrome' SubClassOf 'hereditary skin disorder' 'MEDNIK syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012033 bradyopsia 'bradyopsia' SubClassOf 'inherited vitreous-retinal disease' 'bradyopsia' SubClassOf 'genetic disorder' 'bradyopsia' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 'choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome' SubClassOf 'nose and cavum anomaly' 'choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome' SubClassOf 'hereditary otorhinolaryngological malformation' 'choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012089 ichthyosis prematurity syndrome 'ichthyosis prematurity syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'ichthyosis prematurity syndrome' SubClassOf 'syndromic disease' 'ichthyosis prematurity syndrome' SubClassOf 'genetic disorder' 'ichthyosis prematurity syndrome' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0012092 hereditary sensory and autonomic neuropathy type 5 'hereditary sensory and autonomic neuropathy type 5' SubClassOf 'autosomal recessive hereditary sensory and autonomic neuropathy' 'hereditary sensory and autonomic neuropathy type 5' SubClassOf 'hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0012095 intellectual disability-brachydactyly-Pierre Robin syndrome 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'hereditary otorhinolaryngologic disease' 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'dysostosis of genetic origin' 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'hereditary syndromic Pierre Robin syndrome' 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'dysostosis' 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0002718 central nervous system teratoma 'central nervous system teratoma' SubClassOf 'primary germ cell tumor of central nervous system' http://www.ebi.ac.uk/efo/EFO_0009907 Desmoid-type fibromatosis 'Desmoid-type fibromatosis' SubClassOf 'inherited soft tissue tumor' http://purl.obolibrary.org/obo/MONDO_0012110 growth delay due to insulin-like growth factor type 1 deficiency 'growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012124 sudden infant death-dysgenesis of the testes syndrome 'sudden infant death-dysgenesis of the testes syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012126 familial avascular necrosis of femoral head 'familial avascular necrosis of femoral head' SubClassOf 'avascular necrosis of genetic origin' 'familial avascular necrosis of femoral head' SubClassOf 'osteonecrosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0012130 myofibrillar myopathy 2 'myofibrillar myopathy 2' SubClassOf 'alpha-crystallinopathy' http://purl.obolibrary.org/obo/MONDO_0012019 spondyloepiphyseal dysplasia, Kimberley type 'spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'aggrecan-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0012016 capillary malformation-arteriovenous malformation syndrome 'capillary malformation-arteriovenous malformation syndrome' SubClassOf 'hereditary vascular anomaly' 'capillary malformation-arteriovenous malformation syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0002579 orbit embryonal rhabdomyosarcoma 'orbit embryonal rhabdomyosarcoma' SubClassOf 'hereditary disorder of connective tissue' http://www.orpha.net/ORDO/Orphanet_95433 Autosomal recessive cerebellar ataxia - blindness - deafness 'Autosomal recessive cerebellar ataxia - blindness - deafness' SubClassOf 'hereditary neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0007205 diaphyseal medullary stenosis-bone malignancy syndrome 'diaphyseal medullary stenosis-bone malignancy syndrome' SubClassOf 'primary bone dysplasia with increased bone density' 'diaphyseal medullary stenosis-bone malignancy syndrome' SubClassOf 'skeletal dysplasia' http://www.orpha.net/ORDO/Orphanet_95434 Autosomal recessive cerebellar ataxia - saccadic intrusion 'Autosomal recessive cerebellar ataxia - saccadic intrusion' SubClassOf 'hereditary neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0007203 blue rubber bleb nevus 'blue rubber bleb nevus' SubClassOf 'hereditary vascular anomaly' 'blue rubber bleb nevus' SubClassOf 'simple vascular malformation' http://purl.obolibrary.org/obo/MONDO_0007200 blepharonasofacial malformation syndrome 'blepharonasofacial malformation syndrome' SubClassOf 'nose and cavum anomaly' 'blepharonasofacial malformation syndrome' SubClassOf 'hereditary otorhinolaryngological malformation' http://purl.obolibrary.org/obo/MONDO_0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome 'blepharophimosis, ptosis, and epicanthus inversus syndrome' SubClassOf 'secondary ectropion' http://purl.obolibrary.org/obo/MONDO_0007215 brachydactyly type A1 'brachydactyly type A1' SubClassOf 'dysostosis with brachydactyly without extraskeletal manifestations' http://purl.obolibrary.org/obo/MONDO_0007211 brachydactyly-arterial hypertension syndrome 'brachydactyly-arterial hypertension syndrome' SubClassOf 'dysostosis of genetic origin' 'brachydactyly-arterial hypertension syndrome' SubClassOf 'dysostosis with brachydactyly with extraskeletal manifestations' 'brachydactyly-arterial hypertension syndrome' SubClassOf 'brachydactyly' 'brachydactyly-arterial hypertension syndrome' SubClassOf 'dysostosis' 'brachydactyly-arterial hypertension syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007225 fibular aplasia-ectrodactyly syndrome 'fibular aplasia-ectrodactyly syndrome' SubClassOf 'dysostosis of genetic origin' 'fibular aplasia-ectrodactyly syndrome' SubClassOf 'dysostosis' 'fibular aplasia-ectrodactyly syndrome' SubClassOf 'syndromic disease' 'fibular aplasia-ectrodactyly syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007220 brachydactyly type B1 'brachydactyly type B1' SubClassOf 'dysostosis with brachydactyly without extraskeletal manifestations' http://purl.obolibrary.org/obo/MONDO_0007221 brachydactyly type C 'brachydactyly type C' SubClassOf 'dysostosis with brachydactyly without extraskeletal manifestations' http://purl.obolibrary.org/obo/MONDO_0007231 brachytelephalangy-dysmorphism-Kallmann syndrome 'brachytelephalangy-dysmorphism-Kallmann syndrome' SubClassOf 'dysostosis of genetic origin' 'brachytelephalangy-dysmorphism-Kallmann syndrome' SubClassOf 'syndromic disease' 'brachytelephalangy-dysmorphism-Kallmann syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome 'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf 'dysostosis of genetic origin' 'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf 'syndromic disease' 'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf 'genetic disorder' 'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0007248 hereditary painful callosities 'hereditary painful callosities' SubClassOf 'isolated focal palmoplantar keratoderma' 'hereditary painful callosities' SubClassOf 'focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0957024 hereditary 46,XX disorder of sex development 'hereditary 46,XX disorder of sex development' EquivalentTo '46,XX disorder of sex development' and ('bearer_of' some 'inherited') 'hereditary 46,XX disorder of sex development' SubClassOf '46,XX disorder of sex development' 'hereditary 46,XX disorder of sex development' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007250 camptodactyly of fingers 'camptodactyly of fingers' SubClassOf 'congenital deformities of fingers' 'camptodactyly of fingers' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0957025 hereditary 46,XY disorder of sex development 'hereditary 46,XY disorder of sex development' SubClassOf 'genetic disorder' 'hereditary 46,XY disorder of sex development' EquivalentTo '46,XY disorder of sex development' and ('bearer_of' some 'inherited') 'hereditary 46,XY disorder of sex development' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0007269 dilated cardiomyopathy 1A 'dilated cardiomyopathy 1A' SubClassOf 'familial isolated dilated cardiomyopathy' 'dilated cardiomyopathy 1A' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0007271 familial cutaneous collagenoma 'familial cutaneous collagenoma' SubClassOf 'dermis elastic tissue disorder' 'familial cutaneous collagenoma' SubClassOf 'dermis disorder' http://purl.obolibrary.org/obo/MONDO_0007272 hereditary hypercarotenemia and vitamin A deficiency 'hereditary hypercarotenemia and vitamin A deficiency' SubClassOf 'disorder of other vitamins and cofactors metabolism and transport' 'hereditary hypercarotenemia and vitamin A deficiency' SubClassOf 'disorder of vitamin and non-protein cofactor absorption and transport' http://purl.obolibrary.org/obo/MONDO_0007276 cat-eye syndrome 'cat-eye syndrome' SubClassOf 'syndromic anorectal malformation' 'cat-eye syndrome' SubClassOf 'neuro-ophthalmological disease' 'cat-eye syndrome' SubClassOf 'genetic disorder' 'cat-eye syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0957001 hereditary mixed dermis disorder 'hereditary mixed dermis disorder' SubClassOf 'mixed dermis disorder' 'hereditary mixed dermis disorder' EquivalentTo 'mixed dermis disorder' and ('bearer_of' some 'inherited') 'hereditary mixed dermis disorder' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0957003 hereditary neuro-ophthalmological disease 'hereditary neuro-ophthalmological disease' SubClassOf 'genetic disorder' 'hereditary neuro-ophthalmological disease' SubClassOf 'neuro-ophthalmological disease' 'hereditary neuro-ophthalmological disease' EquivalentTo 'neuro-ophthalmological disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0957008 hereditary cerebral malformation 'hereditary cerebral malformation' SubClassOf 'cerebral malformation' 'hereditary cerebral malformation' SubClassOf 'genetic disorder' 'hereditary cerebral malformation' EquivalentTo 'cerebral malformation' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0957009 hereditary posterior fossa malformation 'hereditary posterior fossa malformation' SubClassOf 'posterior fossa malformation' 'hereditary posterior fossa malformation' EquivalentTo 'posterior fossa malformation' and ('bearer_of' some 'inherited') 'hereditary posterior fossa malformation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex 'amyotrophic lateral sclerosis-parkinsonism-dementia complex' SubClassOf 'neurodegenerative disease' 'amyotrophic lateral sclerosis-parkinsonism-dementia complex' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0007118 isolated anhidrosis with normal sweat glands 'isolated anhidrosis with normal sweat glands' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0007119 isolated aniridia 'isolated aniridia' SubClassOf 'non-syndromic developmental defect of the eye' 'isolated aniridia' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0007116 hereditary neurocutaneous angioma 'hereditary neurocutaneous angioma' SubClassOf 'neurovascular malformation' 'hereditary neurocutaneous angioma' SubClassOf 'nervous system neoplasm' 'hereditary neurocutaneous angioma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007112 interventricular septum aneurysm 'interventricular septum aneurysm' SubClassOf 'congenital anomaly of ventricular septum' 'interventricular septum aneurysm' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0007113 Angelman syndrome 'Angelman syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome 'ankyloblepharon filiforme adnatum-cleft palate syndrome' SubClassOf 'syndromic ankyloblepharon' 'ankyloblepharon filiforme adnatum-cleft palate syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf 'syndromic ankyloblepharon' 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf 'ectrodactyly with and without other manifestations' 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf 'dysostosis of genetic origin' 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0007120 aniridia-absent patella syndrome 'aniridia-absent patella syndrome' SubClassOf 'syndromic aniridia' 'aniridia-absent patella syndrome' SubClassOf 'genetic disorder' 'aniridia-absent patella syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007134 Cooks syndrome 'Cooks syndrome' SubClassOf 'dysostosis with brachydactyly without extraskeletal manifestations' 'Cooks syndrome' SubClassOf 'dysostosis' 'Cooks syndrome' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0007145 aplasia cutis congenita 'aplasia cutis congenita' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0007142 Townes-Brocks syndrome 'Townes-Brocks syndrome' SubClassOf 'dysostosis of genetic origin' 'Townes-Brocks syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'Townes-Brocks syndrome' SubClassOf 'syndromic anorectal malformation' 'Townes-Brocks syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007154 arteriovenous malformations of the brain 'arteriovenous malformations of the brain' SubClassOf 'nervous system benign neoplasm' 'arteriovenous malformations of the brain' SubClassOf 'neurovascular disorder' 'arteriovenous malformations of the brain' SubClassOf 'hereditary vascular anomaly' 'arteriovenous malformations of the brain' SubClassOf 'neurovascular malformation' 'arteriovenous malformations of the brain' SubClassOf 'genetic disorder' 'arteriovenous malformations of the brain' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007161 spermatogenic failure 2 'spermatogenic failure 2' SubClassOf 'male infertility with azoospermia or oligozoospermia due to single gene mutation' http://purl.obolibrary.org/obo/MONDO_0007167 atelosteogenesis type I 'atelosteogenesis type I' SubClassOf 'hereditary syndromic Pierre Robin syndrome' 'atelosteogenesis type I' SubClassOf 'hereditary otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0007168 atelosteogenesis type III 'atelosteogenesis type III' SubClassOf 'hereditary otorhinolaryngologic disease' 'atelosteogenesis type III' SubClassOf 'hereditary syndromic Pierre Robin syndrome' http://purl.obolibrary.org/obo/MONDO_0007163 episodic ataxia type 2 'episodic ataxia type 2' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0007187 nevoid basal cell carcinoma syndrome 'nevoid basal cell carcinoma syndrome' SubClassOf 'inherited nervous system cancer-predisposing syndrome' http://purl.obolibrary.org/obo/MONDO_0007188 primary basilar invagination 'primary basilar invagination' SubClassOf 'disorder of medulla oblongata' 'primary basilar invagination' SubClassOf 'skeletal system disease' 'primary basilar invagination' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0007194 familial bicuspid aortic valve 'familial bicuspid aortic valve' SubClassOf 'hereditary cardiac anomaly' 'familial bicuspid aortic valve' SubClassOf 'aortic malformation' 'familial bicuspid aortic valve' SubClassOf 'bearer_of' some 'rare' 'familial bicuspid aortic valve' SubClassOf 'disorder of development or morphogenesis' 'familial bicuspid aortic valve' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007029 branchio-oto-renal syndrome 'branchio-oto-renal syndrome' SubClassOf 'branchial arch or oral-acral syndrome' http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome 'Adams-Oliver syndrome' SubClassOf 'dysostosis of genetic origin' 'Adams-Oliver syndrome' SubClassOf 'genetic disorder' 'Adams-Oliver syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0007032 prune belly syndrome 'prune belly syndrome' SubClassOf 'syndromic urogenital tract malformation' 'prune belly syndrome' SubClassOf 'syndromic disease' 'prune belly syndrome' SubClassOf 'inherited kidney disorder' http://purl.obolibrary.org/obo/MONDO_0007041 Apert syndrome 'Apert syndrome' SubClassOf 'hereditary syndromic Pierre Robin syndrome' 'Apert syndrome' SubClassOf 'hereditary otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0007045 acrofacial dysostosis, Catania type 'acrofacial dysostosis, Catania type' SubClassOf 'branchial arch or oral-acral syndrome' http://purl.obolibrary.org/obo/MONDO_0007042 Saethre-Chotzen syndrome 'Saethre-Chotzen syndrome' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0007062 adactylia, unilateral 'adactylia, unilateral' SubClassOf 'congenital absence/hypoplasia of fingers excluding thumb' 'adactylia, unilateral' SubClassOf 'dysostosis' 'adactylia, unilateral' SubClassOf 'bearer_of' some 'congenital' 'adactylia, unilateral' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0007073 Hypoglossia-hypodactyly syndrome 'Hypoglossia-hypodactyly syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'Hypoglossia-hypodactyly syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0007072 ADULT syndrome 'ADULT syndrome' SubClassOf 'dysostosis of genetic origin' 'ADULT syndrome' SubClassOf 'EEC syndrome and related syndrome' 'ADULT syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'ADULT syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0007077 Tietz syndrome 'Tietz syndrome' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0007078 Pseudohypoparathyroidism type 1A 'Pseudohypoparathyroidism type 1A' SubClassOf 'syndromic genetic obesity' 'Pseudohypoparathyroidism type 1A' SubClassOf 'dysostosis with brachydactyly with extraskeletal manifestations' http://purl.obolibrary.org/obo/MONDO_0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome 'alopecia-epilepsy-pyorrhea-intellectual disability syndrome' SubClassOf 'hereditary alopecia' 'alopecia-epilepsy-pyorrhea-intellectual disability syndrome' SubClassOf 'syndromic disease' 'alopecia-epilepsy-pyorrhea-intellectual disability syndrome' SubClassOf 'integumentary system disease' 'alopecia-epilepsy-pyorrhea-intellectual disability syndrome' SubClassOf 'genetic disorder' 'alopecia-epilepsy-pyorrhea-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007097 Finnish type amyloidosis 'Finnish type amyloidosis' SubClassOf 'syndromic corneal dystrophy' 'Finnish type amyloidosis' SubClassOf 'syndromic disease' 'Finnish type amyloidosis' SubClassOf 'corneal dystrophy' http://purl.obolibrary.org/obo/UBERON_0001540 peroneal artery 'peroneal artery' SubClassOf 'part of' some 'appendage' 'peroneal artery' SubClassOf 'part of' some 'limb' 'peroneal artery' SubClassOf 'part of' some 'hindlimb' http://purl.obolibrary.org/obo/MONDO_0022410 retinal ciliopathy 'retinal ciliopathy' SubClassOf 'ciliopathy' 'retinal ciliopathy' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0022409 nephropathy-associated ciliopathy 'nephropathy-associated ciliopathy' SubClassOf 'inherited kidney disorder' 'nephropathy-associated ciliopathy' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_0012912 pseudopseudohypoparathyroidism 'pseudopseudohypoparathyroidism' SubClassOf 'syndromic genetic obesity' http://purl.obolibrary.org/obo/MONDO_0012911 pseudohypoparathyroidism type 1C 'pseudohypoparathyroidism type 1C' SubClassOf 'avascular necrosis of genetic origin' 'pseudohypoparathyroidism type 1C' SubClassOf 'syndromic genetic obesity' 'pseudohypoparathyroidism type 1C' SubClassOf 'osteonecrosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0012928 hereditary spastic paraplegia 42 'hereditary spastic paraplegia 42' SubClassOf 'autosomal dominant pure spastic paraplegia' 'hereditary spastic paraplegia 42' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012967 hemolytic anemia due to adenylate kinase deficiency 'hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'normocytic anemia' 'hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0012980 endocrine-cerebro-osteodysplasia syndrome 'endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'dysostosis of genetic origin' 'endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'lethal multiple congenital anomalies/dysmorphic syndrome' 'endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'skeletal system disease' 'endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012986 bilateral parasagittal parieto-occipital polymicrogyria 'bilateral parasagittal parieto-occipital polymicrogyria' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012984 PHARC syndrome 'PHARC syndrome' SubClassOf 'syndromic retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0012992 pancreatic insufficiency-anemia-hyperostosis syndrome 'pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency 'dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'disorder of pterin metabolism' 'dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'inherited dystonia' http://purl.obolibrary.org/obo/MONDO_0022397 retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene 'retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene' SubClassOf 'retinal ciliopathy' 'retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012859 autosomal recessive osteopetrosis 7 'autosomal recessive osteopetrosis 7' SubClassOf 'immunodeficiency predominantly affecting antibody production' 'autosomal recessive osteopetrosis 7' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0012866 hereditary spastic paraplegia 35 'hereditary spastic paraplegia 35' SubClassOf 'pure or complex autosomal recessive spastic paraplegia' 'hereditary spastic paraplegia 35' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 'autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome' SubClassOf 'disease of glomerular basement membrane' 'autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome' SubClassOf 'COL4A1 or COL4A2-related cerebral small vessel disease' 'autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome' SubClassOf 'genetic disorder' 'autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome' SubClassOf 'syndromic disease' 'autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome' SubClassOf 'cardiovascular disease' http://purl.obolibrary.org/obo/MONDO_0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome 'microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome' SubClassOf 'developmental defect of the eye' 'microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome' SubClassOf 'syndromic disease' 'microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome' SubClassOf 'disorder of visual system' http://purl.obolibrary.org/obo/MONDO_0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome 'lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012766 hereditary spastic paraplegia 37 'hereditary spastic paraplegia 37' SubClassOf 'autosomal dominant pure spastic paraplegia' 'hereditary spastic paraplegia 37' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0022113 central centrifugal cicatricial alopecia 'central centrifugal cicatricial alopecia' SubClassOf 'hereditary alopecia' 'central centrifugal cicatricial alopecia' SubClassOf 'genetic disorder' 'central centrifugal cicatricial alopecia' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0012789 dystonia 16 'dystonia 16' SubClassOf 'persistent combined dystonia' 'dystonia 16' SubClassOf 'combined dystonia' http://purl.obolibrary.org/obo/MONDO_0012787 hereditary spastic paraplegia 39 'hereditary spastic paraplegia 39' SubClassOf 'autosomal recessive complex spastic paraplegia' 'hereditary spastic paraplegia 39' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012794 ANE syndrome 'ANE syndrome' SubClassOf 'hereditary alopecia' 'ANE syndrome' SubClassOf 'syndromic disease' 'ANE syndrome' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 'rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome' SubClassOf 'syndromic genetic obesity' 'rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 'hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'syndromic intestinal malformation' 'hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'syndromic visceral malformation' 'hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'genetic disorder' 'hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017419 non-syndromic amelia 'non-syndromic amelia' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0017413 Reunion island Larsen syndrome 'Reunion island Larsen syndrome' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 'Reunion island Larsen syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017411 neonatal inflammatory skin and bowel disease 'neonatal inflammatory skin and bowel disease' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' http://purl.obolibrary.org/obo/MONDO_0017427 congenital deformities of limbs 'congenital deformities of limbs' SubClassOf 'non-syndromic limb malformation' 'congenital deformities of limbs' SubClassOf 'disorder of development or morphogenesis' 'congenital deformities of limbs' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017428 congenital deformities of fingers 'congenital deformities of fingers' SubClassOf 'congenital deformities of limbs' 'congenital deformities of fingers' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017429 joint formation defects 'joint formation defects' SubClassOf 'dysostosis of genetic origin' 'joint formation defects' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017423 split hand or/and split foot malformation 'split hand or/and split foot malformation' SubClassOf 'dysostosis' 'split hand or/and split foot malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017424 non-syndromic brachydactyly 'non-syndromic brachydactyly' SubClassOf 'non-syndromic terminal limb defects' http://purl.obolibrary.org/obo/MONDO_0017420 intercalary limb defects 'intercalary limb defects' SubClassOf 'non-syndromic limb reduction defect' 'intercalary limb defects' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017421 non-syndromic terminal limb defects 'non-syndromic terminal limb defects' SubClassOf 'non-syndromic limb reduction defect' 'non-syndromic terminal limb defects' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017422 adactyly of hand 'adactyly of hand' SubClassOf 'non-syndromic terminal limb defects' 'adactyly of hand' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017430 non-syndromic congenital joint dislocations 'non-syndromic congenital joint dislocations' SubClassOf 'non-syndromic limb malformation' 'non-syndromic congenital joint dislocations' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017431 non-syndromic limb overgrowth 'non-syndromic limb overgrowth' SubClassOf 'non-syndromic limb malformation' 'non-syndromic limb overgrowth' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017449 split hand 'split hand' SubClassOf 'split hand or/and split foot malformation' 'split hand' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0017445 acheiria 'acheiria' SubClassOf 'non-syndromic terminal limb defects' 'acheiria' SubClassOf 'dysostosis' 'acheiria' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0017446 apodia 'apodia' SubClassOf 'non-syndromic terminal limb defects' 'apodia' SubClassOf 'dysostosis' 'apodia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0017447 congenital absence/hypoplasia of thumb 'congenital absence/hypoplasia of thumb' SubClassOf 'adactyly of hand' 'congenital absence/hypoplasia of thumb' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017448 congenital absence/hypoplasia of fingers excluding thumb 'congenital absence/hypoplasia of fingers excluding thumb' SubClassOf 'adactyly of hand' 'congenital absence/hypoplasia of fingers excluding thumb' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017441 congenital absence of upper arm and forearm with hand present 'congenital absence of upper arm and forearm with hand present' SubClassOf 'intercalary limb defects' 'congenital absence of upper arm and forearm with hand present' SubClassOf 'skeletal dysplasia' 'congenital absence of upper arm and forearm with hand present' SubClassOf 'dysostosis' 'congenital absence of upper arm and forearm with hand present' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017442 congenital absence of thigh and lower leg with foot present 'congenital absence of thigh and lower leg with foot present' SubClassOf 'intercalary limb defects' 'congenital absence of thigh and lower leg with foot present' SubClassOf 'skeletal dysplasia' 'congenital absence of thigh and lower leg with foot present' SubClassOf 'dysostosis' 'congenital absence of thigh and lower leg with foot present' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017443 congenital absence of both forearm and hand 'congenital absence of both forearm and hand' SubClassOf 'non-syndromic terminal limb defects' 'congenital absence of both forearm and hand' SubClassOf 'skeletal dysplasia' 'congenital absence of both forearm and hand' SubClassOf 'bearer_of' some 'congenital' 'congenital absence of both forearm and hand' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0017444 congenital absence of both lower leg and foot 'congenital absence of both lower leg and foot' SubClassOf 'non-syndromic terminal limb defects' 'congenital absence of both lower leg and foot' SubClassOf 'skeletal dysplasia' 'congenital absence of both lower leg and foot' SubClassOf 'dysostosis' 'congenital absence of both lower leg and foot' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017455 hyperphalangy 'hyperphalangy' SubClassOf 'non-syndromic polydactyly, syndactyly and/or hyperphalangy' 'hyperphalangy' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0017450 split foot 'split foot' SubClassOf 'split hand or/and split foot malformation' 'split foot' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0017467 tibio-fibular synostosis 'tibio-fibular synostosis' SubClassOf 'joint formation defects' 'tibio-fibular synostosis' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0017468 congenital shoulder dislocation 'congenital shoulder dislocation' SubClassOf 'non-syndromic congenital joint dislocations' 'congenital shoulder dislocation' SubClassOf 'bearer_of' some 'congenital' 'congenital shoulder dislocation' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017469 congenital elbow dislocation 'congenital elbow dislocation' SubClassOf 'non-syndromic congenital joint dislocations' 'congenital elbow dislocation' SubClassOf 'bearer_of' some 'congenital' 'congenital elbow dislocation' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017461 familial isolated clinodactyly of fingers 'familial isolated clinodactyly of fingers' SubClassOf 'congenital deformities of fingers' 'familial isolated clinodactyly of fingers' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017474 macrodactyly of fingers 'macrodactyly of fingers' SubClassOf 'non-syndromic limb overgrowth' 'macrodactyly of fingers' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017475 macrodactyly of toes 'macrodactyly of toes' SubClassOf 'non-syndromic limb overgrowth' 'macrodactyly of toes' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017476 upper limb hypertrophy 'upper limb hypertrophy' SubClassOf 'non-syndromic limb overgrowth' 'upper limb hypertrophy' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017477 lower limb hypertrophy 'lower limb hypertrophy' SubClassOf 'non-syndromic limb overgrowth' 'lower limb hypertrophy' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017470 congenital knee dislocation 'congenital knee dislocation' SubClassOf 'non-syndromic congenital joint dislocations' 'congenital knee dislocation' SubClassOf 'disorder of development or morphogenesis' 'congenital knee dislocation' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017471 congenital patella dislocation 'congenital patella dislocation' SubClassOf 'non-syndromic congenital joint dislocations' 'congenital patella dislocation' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'syndromic lymphedema' 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'syndromic disease' 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'bearer_of' some 'rare' 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0007917 lymphedema-cerebral arteriovenous anomaly syndrome 'lymphedema-cerebral arteriovenous anomaly syndrome' SubClassOf 'syndromic lymphedema' 'lymphedema-cerebral arteriovenous anomaly syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007924 Bannayan-Riley-Ruvalcaba syndrome 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'hereditary vascular anomaly' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'hereditary intestinal polyposis' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0007922 lymphedema-distichiasis syndrome 'lymphedema-distichiasis syndrome' SubClassOf 'syndromic lymphedema' 'lymphedema-distichiasis syndrome' SubClassOf 'secondary ectropion' 'lymphedema-distichiasis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007947 Marfan syndrome 'Marfan syndrome' SubClassOf 'overgrowth or tall stature syndrome with skeletal involvement' 'Marfan syndrome' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0007946 jaw-winking syndrome 'jaw-winking syndrome' SubClassOf 'eyelids malposition disorder' 'jaw-winking syndrome' SubClassOf 'disorder of visual system' 'jaw-winking syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007943 Nager acrofacial dysostosis 'Nager acrofacial dysostosis' SubClassOf 'malposition of external canthus' 'Nager acrofacial dysostosis' SubClassOf 'hereditary syndromic Pierre Robin syndrome' 'Nager acrofacial dysostosis' SubClassOf 'dysostosis with predominant craniofacial involvement' 'Nager acrofacial dysostosis' SubClassOf 'syndromic palpebral coloboma' 'Nager acrofacial dysostosis' SubClassOf 'hereditary otorhinolaryngologic disease' 'Nager acrofacial dysostosis' SubClassOf 'branchial arch or oral-acral syndrome' 'Nager acrofacial dysostosis' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007949 Marshall syndrome 'Marshall syndrome' SubClassOf 'type 11 collagen-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0007958 familial medullary thyroid carcinoma 'familial medullary thyroid carcinoma' SubClassOf 'inherited neuroendocrine tumor' http://purl.obolibrary.org/obo/MONDO_0007962 megalodactyly 'megalodactyly' SubClassOf 'PIK3CA-related overgrowth syndrome' 'megalodactyly' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0007979 metachondromatosis 'metachondromatosis' SubClassOf 'primary bone dysplasia with disorganized development of skeletal components' 'metachondromatosis' SubClassOf 'genetic disorder' 'metachondromatosis' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0007977 mesomelic dysplasia, Kantaputra type 'mesomelic dysplasia, Kantaputra type' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'mesomelic dysplasia, Kantaputra type' SubClassOf 'skeletal dysplasia' 'mesomelic dysplasia, Kantaputra type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023599 http://purl.obolibrary.org/obo/MONDO_0007970 melorheostosis 'melorheostosis' SubClassOf 'primary bone dysplasia with increased bone density' http://purl.obolibrary.org/obo/MONDO_0007971 delayed membranous cranial ossification 'delayed membranous cranial ossification' SubClassOf 'cranial malformation' http://purl.obolibrary.org/obo/MONDO_0007987 Kniest dysplasia 'Kniest dysplasia' SubClassOf 'hereditary otorhinolaryngologic disease' 'Kniest dysplasia' SubClassOf 'hereditary syndromic Pierre Robin syndrome' http://purl.obolibrary.org/obo/MONDO_0007988 autosomal dominant primary microcephaly 'autosomal dominant primary microcephaly' SubClassOf 'hereditary cerebral malformation' http://purl.obolibrary.org/obo/MONDO_0007983 Schmid metaphyseal chondrodysplasia 'Schmid metaphyseal chondrodysplasia' SubClassOf 'multiple metaphyseal dysplasia' 'Schmid metaphyseal chondrodysplasia' SubClassOf 'skeletal dysplasia' 'Schmid metaphyseal chondrodysplasia' SubClassOf 'syndromic disease' 'Schmid metaphyseal chondrodysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 'metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome' SubClassOf 'multiple metaphyseal dysplasia' 'metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome' SubClassOf 'syndromic disease' 'metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007982 metaphyseal chondrodysplasia, Jansen type 'metaphyseal chondrodysplasia, Jansen type' SubClassOf 'multiple metaphyseal dysplasia' 'metaphyseal chondrodysplasia, Jansen type' SubClassOf 'syndromic disease' 'metaphyseal chondrodysplasia, Jansen type' SubClassOf 'skeletal dysplasia' 'metaphyseal chondrodysplasia, Jansen type' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0017309 neonatal Marfan syndrome 'neonatal Marfan syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017302 qualitative or quantitative defects of troponin 'qualitative or quantitative defects of troponin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of troponin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017304 ocular albinism 'ocular albinism' SubClassOf 'oculocutaneous or ocular albinism' 'ocular albinism' SubClassOf 'disorder of visual system' http://purl.obolibrary.org/obo/MONDO_0017305 syndromic oculocutaneous albinism 'syndromic oculocutaneous albinism' SubClassOf 'oculocutaneous or ocular albinism' 'syndromic oculocutaneous albinism' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017317 phakomatosis pigmentokeratotica 'phakomatosis pigmentokeratotica' SubClassOf 'inherited skin tumor' 'phakomatosis pigmentokeratotica' SubClassOf 'hereditary skin disorder' 'phakomatosis pigmentokeratotica' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017329 familial vesicoureteral reflux 'familial vesicoureteral reflux' SubClassOf 'non-syndromic urogenital tract malformation' 'familial vesicoureteral reflux' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017336 fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency 'fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf 'hypertrophic cardiomyopathy' 'fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome 'juvenile polyposis syndrome' SubClassOf 'hereditary intestinal polyposis' 'juvenile polyposis syndrome' SubClassOf 'intestinal polyposis syndrome' 'juvenile polyposis syndrome' SubClassOf 'intestinal polyposis syndrome' 'juvenile polyposis syndrome' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0017383 familial clubfoot due to PITX1 point mutation 'familial clubfoot due to PITX1 point mutation' SubClassOf 'patellar dysostosis' http://purl.obolibrary.org/obo/MONDO_0017397 constitutional dyserythropoietic anemia 'constitutional dyserythropoietic anemia' SubClassOf 'anemia' 'constitutional dyserythropoietic anemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007804 Pallister-Hall syndrome 'Pallister-Hall syndrome' SubClassOf 'syndromic anorectal malformation' 'Pallister-Hall syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007811 ichthyosis-cheek-eyebrow syndrome 'ichthyosis-cheek-eyebrow syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'ichthyosis-cheek-eyebrow syndrome' SubClassOf 'genetic disorder' 'ichthyosis-cheek-eyebrow syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007838 Jacobsen syndrome 'Jacobsen syndrome' SubClassOf 'syndromic disease' 'Jacobsen syndrome' SubClassOf 'eyelids malposition disorder' 'Jacobsen syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007836 IVIC syndrome 'IVIC syndrome' SubClassOf 'dysostosis of genetic origin' 'IVIC syndrome' SubClassOf 'dysostosis' 'IVIC syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007846 KBG syndrome 'KBG syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007841 coxopodopatellar syndrome 'coxopodopatellar syndrome' SubClassOf 'patellar dysostosis' 'coxopodopatellar syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007856 palmoplantar keratoderma-esophageal carcinoma syndrome 'palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'hereditary gastro-esophageal disease' 'palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome 'palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome' SubClassOf 'autosomal dominant hereditary axonal motor and sensory neuropathy' 'palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007864 angioosteohypertrophic syndrome 'angioosteohypertrophic syndrome' SubClassOf 'congenital vascular bone syndrome' 'angioosteohypertrophic syndrome' SubClassOf 'syndromic disease' 'angioosteohypertrophic syndrome' SubClassOf 'hereditary vascular anomaly' 'angioosteohypertrophic syndrome' SubClassOf 'genetic disorder' 'angioosteohypertrophic syndrome' SubClassOf 'vascular disease' 'angioosteohypertrophic syndrome' SubClassOf 'developmental defect during embryogenesis' 'angioosteohypertrophic syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007879 larynx atresia 'larynx atresia' SubClassOf 'hereditary otorhinolaryngological malformation' 'larynx atresia' SubClassOf 'larynx anomaly' 'larynx atresia' SubClassOf 'otorhinolaryngologic disease' 'larynx atresia' SubClassOf 'laryngeal disease' http://purl.obolibrary.org/obo/MONDO_0007878 congenital laryngomalacia 'congenital laryngomalacia' SubClassOf 'hereditary otorhinolaryngological malformation' 'congenital laryngomalacia' SubClassOf 'larynx anomaly' 'congenital laryngomalacia' SubClassOf 'laryngeal disease' http://purl.obolibrary.org/obo/MONDO_0007874 trichorhinophalangeal syndrome type II 'trichorhinophalangeal syndrome type II' DisjointWith 'trichorhinophalangeal syndrome type I or III' http://purl.obolibrary.org/obo/MONDO_0007871 familial congenital nasolacrimal duct obstruction 'familial congenital nasolacrimal duct obstruction' SubClassOf 'excretory apparatus of the lacrimal system anomaly' 'familial congenital nasolacrimal duct obstruction' SubClassOf 'nose and cavum anomaly' 'familial congenital nasolacrimal duct obstruction' SubClassOf 'hereditary otorhinolaryngological malformation' 'familial congenital nasolacrimal duct obstruction' SubClassOf 'hereditary otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0007888 hereditary leiomyomatosis and renal cell cancer 'hereditary leiomyomatosis and renal cell cancer' SubClassOf 'inherited soft tissue tumor' 'hereditary leiomyomatosis and renal cell cancer' SubClassOf 'leiomyomatosis' 'hereditary leiomyomatosis and renal cell cancer' SubClassOf 'renal leiomyoma' 'hereditary leiomyomatosis and renal cell cancer' SubClassOf 'inherited skin tumor' 'hereditary leiomyomatosis and renal cell cancer' SubClassOf 'inherited renal cancer-predisposing syndrome' 'hereditary leiomyomatosis and renal cell cancer' SubClassOf 'leiomyoma cutis' 'hereditary leiomyomatosis and renal cell cancer' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0007885 Legg-Calve-Perthes disease 'Legg-Calve-Perthes disease' SubClassOf 'osteochondrosis of genetic origin' 'Legg-Calve-Perthes disease' SubClassOf 'osteonecrosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0007880 congenital laryngeal web 'congenital laryngeal web' SubClassOf 'larynx anomaly' 'congenital laryngeal web' SubClassOf 'hereditary otorhinolaryngological malformation' 'congenital laryngeal web' SubClassOf 'laryngeal disease' http://purl.obolibrary.org/obo/MONDO_0007893 Noonan syndrome with multiple lentigines 'Noonan syndrome with multiple lentigines' SubClassOf 'disease has feature' some 'palpebral lentiginosis' http://purl.obolibrary.org/obo/MONDO_0007892 Lenz-Majewski hyperostotic dwarfism 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'primary bone dysplasia with increased bone density' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'skeletal dysplasia' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017218 septopreoptic holoprosencephaly 'septopreoptic holoprosencephaly' SubClassOf 'holoprosencephaly' 'septopreoptic holoprosencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017219 microform holoprosencephaly 'microform holoprosencephaly' SubClassOf 'midline cerebral malformation' 'microform holoprosencephaly' SubClassOf 'holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0017212 paraneoplastic uveitis 'paraneoplastic uveitis' EquivalentTo 'non-infectious posterior uveitis' and 'paraneoplastic syndrome' 'paraneoplastic uveitis' SubClassOf 'paraneoplastic syndrome' 'paraneoplastic uveitis' SubClassOf 'non-infectious posterior uveitis' http://purl.obolibrary.org/obo/MONDO_0017237 hereditary sensorimotor neuropathy with hyperelastic skin 'hereditary sensorimotor neuropathy with hyperelastic skin' SubClassOf 'autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'hereditary sensorimotor neuropathy with hyperelastic skin' SubClassOf 'hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0017234 inherited prion disease 'inherited prion disease' SubClassOf 'human prion disease' 'inherited prion disease' SubClassOf 'prion disease' 'inherited prion disease' SubClassOf 'inherited neurodegenerative disorder' 'inherited prion disease' EquivalentTo 'prion disease' and ('bearer_of' some 'inherited') 'inherited prion disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017240 acrodysostosis with multiple hormone resistance 'acrodysostosis with multiple hormone resistance' SubClassOf 'mandibulofacial dysostosis' 'acrodysostosis with multiple hormone resistance' SubClassOf 'polyendocrinopathy' 'acrodysostosis with multiple hormone resistance' SubClassOf 'hereditary otorhinolaryngologic disease' 'acrodysostosis with multiple hormone resistance' SubClassOf 'acrofacial dysostosis' 'acrodysostosis with multiple hormone resistance' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017241 AP4-related intellectual disability and spastic paraplegia 'AP4-related intellectual disability and spastic paraplegia' SubClassOf 'bearer_of' some 'rare' 'AP4-related intellectual disability and spastic paraplegia' SubClassOf 'autosomal recessive complex spastic paraplegia' 'AP4-related intellectual disability and spastic paraplegia' EquivalentTo 'hereditary spastic paraplegia 50' or 'hereditary spastic paraplegia 51' or 'hereditary spastic paraplegia 47' or 'hereditary spastic paraplegia 52' 'AP4-related intellectual disability and spastic paraplegia' SubClassOf 'syndromic intellectual disability' 'AP4-related intellectual disability and spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017270 autosomal ichthyosis syndrome 'autosomal ichthyosis syndrome' SubClassOf 'inherited ichthyosis syndromic form' 'autosomal ichthyosis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017269 X-linked ichthyosis syndrome 'X-linked ichthyosis syndrome' SubClassOf 'inherited ichthyosis syndromic form' 'X-linked ichthyosis syndrome' SubClassOf 'X-linked disease' 'X-linked ichthyosis syndrome' SubClassOf 'syndromic disease' 'X-linked ichthyosis syndrome' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis 'autosomal recessive congenital ichthyosis' SubClassOf 'inherited non-syndromic ichthyosis' 'autosomal recessive congenital ichthyosis' SubClassOf 'autosomal recessive disease' 'autosomal recessive congenital ichthyosis' SubClassOf 'inherited ichthyosis' http://purl.obolibrary.org/obo/MONDO_0017266 keratinopathic ichthyosis 'keratinopathic ichthyosis' SubClassOf 'inherited non-syndromic ichthyosis' 'keratinopathic ichthyosis' SubClassOf 'inherited ichthyosis' http://purl.obolibrary.org/obo/MONDO_0017262 inherited non-syndromic ichthyosis 'inherited non-syndromic ichthyosis' SubClassOf 'bearer_of' some 'has an isolated presentation' 'inherited non-syndromic ichthyosis' SubClassOf 'inherited ichthyosis' 'inherited non-syndromic ichthyosis' EquivalentTo 'inherited ichthyosis' and ('bearer_of' some 'has an isolated presentation') 'inherited non-syndromic ichthyosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017263 inherited ichthyosis syndromic form 'inherited ichthyosis syndromic form' EquivalentTo 'inherited ichthyosis' and ('bearer_of' some 'has a syndromic presentation') 'inherited ichthyosis syndromic form' SubClassOf 'inherited ichthyosis' 'inherited ichthyosis syndromic form' SubClassOf 'syndromic disease' 'inherited ichthyosis syndromic form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017264 syndromic recessive X-linked ichthyosis 'syndromic recessive X-linked ichthyosis' SubClassOf 'syndromic corneal dystrophy' 'syndromic recessive X-linked ichthyosis' SubClassOf 'eye disease' 'syndromic recessive X-linked ichthyosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017290 familial intrahepatic cholestasis 'familial intrahepatic cholestasis' SubClassOf 'hereditary biliary tract disease' 'familial intrahepatic cholestasis' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0017285 penoscrotal transposition 'penoscrotal transposition' SubClassOf 'non-syndromic urogenital tract malformation of male' 'penoscrotal transposition' SubClassOf 'disorder of development or morphogenesis' 'penoscrotal transposition' SubClassOf 'male reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0007906 familial partial lipodystrophy, Dunnigan type 'familial partial lipodystrophy, Dunnigan type' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007716 alpha thalassemia-intellectual disability syndrome type 1 'alpha thalassemia-intellectual disability syndrome type 1' SubClassOf 'alpha-thalassemia-related diseases' 'alpha thalassemia-intellectual disability syndrome type 1' SubClassOf 'syndromic disease' 'alpha thalassemia-intellectual disability syndrome type 1' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0007712 oculoauriculovertebral spectrum with radial defects 'oculoauriculovertebral spectrum with radial defects' SubClassOf 'dysostosis of genetic origin' 'oculoauriculovertebral spectrum with radial defects' SubClassOf 'branchial arch or oral-acral syndrome' 'oculoauriculovertebral spectrum with radial defects' SubClassOf 'dysostosis' 'oculoauriculovertebral spectrum with radial defects' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007727 autosomal dominant familial periodic fever 'autosomal dominant familial periodic fever' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'autosomal dominant familial periodic fever' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0007726 hip dysplasia, Beukes type 'hip dysplasia, Beukes type' SubClassOf 'multiple epiphyseal dysplasia and pseudoachondroplasia' http://purl.obolibrary.org/obo/MONDO_0007738 spondyloepiphyseal dysplasia with congenital joint dislocations 'spondyloepiphyseal dysplasia with congenital joint dislocations' SubClassOf 'disorder of O-xylosylglycan synthesis' 'spondyloepiphyseal dysplasia with congenital joint dislocations' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 'spondyloepiphyseal dysplasia with congenital joint dislocations' SubClassOf 'sulfation-related bone disorder' 'spondyloepiphyseal dysplasia with congenital joint dislocations' SubClassOf 'mineral metabolism disease' 'spondyloepiphyseal dysplasia with congenital joint dislocations' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0007737 humeroradial synostosis 'humeroradial synostosis' SubClassOf 'joint formation defects' 'humeroradial synostosis' SubClassOf 'genetic disorder' 'humeroradial synostosis' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0007735 congenital Horner syndrome 'congenital Horner syndrome' SubClassOf 'eyelids malposition disorder' 'congenital Horner syndrome' SubClassOf 'Horner syndrome' http://purl.obolibrary.org/obo/MONDO_0007732 Holt-Oram syndrome 'Holt-Oram syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007747 isolated hyperchlorhidrosis 'isolated hyperchlorhidrosis' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0007744 cholesterol-ester transfer protein deficiency 'cholesterol-ester transfer protein deficiency' SubClassOf 'familial hyperlipidemia' http://purl.obolibrary.org/obo/MONDO_0007741 congenital hydronephrosis 'congenital hydronephrosis' SubClassOf 'non-syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0007758 epidermolytic palmoplantar keratoderma 'epidermolytic palmoplantar keratoderma' SubClassOf 'autosomal dominant isolated diffuse palmoplantar keratoderma' 'epidermolytic palmoplantar keratoderma' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0032703 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 'short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis' SubClassOf 'primary bone dysplasia with multiple joint dislocations' 'short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis' SubClassOf 'skeletal system disease' 'short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007768 hyperparathyroidism 2 with jaw tumors 'hyperparathyroidism 2 with jaw tumors' SubClassOf 'inherited renal cancer-predisposing syndrome' 'hyperparathyroidism 2 with jaw tumors' SubClassOf 'kidney neoplasm' 'hyperparathyroidism 2 with jaw tumors' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0007766 Morgagni-Stewart-Morel syndrome 'Morgagni-Stewart-Morel syndrome' SubClassOf 'cranial malformation' 'Morgagni-Stewart-Morel syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0007764 autosomal dominant osteosclerosis, Worth type 'autosomal dominant osteosclerosis, Worth type' SubClassOf 'primary bone dysplasia with increased bone density' 'autosomal dominant osteosclerosis, Worth type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007762 hyperlipoproteinemia type V 'hyperlipoproteinemia type V' SubClassOf 'major hypertriglyceridemia' http://purl.obolibrary.org/obo/MONDO_0007771 hyperpigmentation with or without hypopigmentation, familial progressive 'hyperpigmentation with or without hypopigmentation, familial progressive' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0007784 selective pituitary resistance to thyroid hormone 'selective pituitary resistance to thyroid hormone' SubClassOf 'resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta' 'selective pituitary resistance to thyroid hormone' SubClassOf 'thyroid hormone resistance syndrome' http://purl.obolibrary.org/obo/MONDO_0017104 central nervous system cystic malformation 'central nervous system cystic malformation' SubClassOf 'non-syndromic central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0017103 encephaloclastic disorder 'encephaloclastic disorder' SubClassOf 'cerebral malformation' 'encephaloclastic disorder' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0007797 hypoparathyroidism-deafness-renal disease syndrome 'hypoparathyroidism-deafness-renal disease syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007795 mullerian duct anomalies-limb anomalies syndrome 'mullerian duct anomalies-limb anomalies syndrome' SubClassOf 'syndromic urogenital tract malformation' 'mullerian duct anomalies-limb anomalies syndrome' SubClassOf 'syndromic uterovaginal malformation' 'mullerian duct anomalies-limb anomalies syndrome' SubClassOf 'syndromic disease' 'mullerian duct anomalies-limb anomalies syndrome' SubClassOf 'bearer_of' some 'rare' 'mullerian duct anomalies-limb anomalies syndrome' SubClassOf 'reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0017112 isolated unilateral hemispheric cerebellar hypoplasia 'isolated unilateral hemispheric cerebellar hypoplasia' SubClassOf 'malformation of the cerebellar hemispheres' 'isolated unilateral hemispheric cerebellar hypoplasia' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0017114 global cerebellar malformation 'global cerebellar malformation' SubClassOf 'cerebellar malformation' http://purl.obolibrary.org/obo/MONDO_0017127 inherited soft tissue tumor 'inherited soft tissue tumor' SubClassOf 'genetic disorder' 'inherited soft tissue tumor' SubClassOf 'bearer_of' some 'rare' 'inherited soft tissue tumor' SubClassOf 'mesenchymal cell neoplasm' 'inherited soft tissue tumor' EquivalentTo 'mesenchymal cell neoplasm' and ('bearer_of' some 'inherited') 'inherited soft tissue tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017128 inherited digestive tract tumor 'inherited digestive tract tumor' SubClassOf 'genetic disorder' 'inherited digestive tract tumor' SubClassOf 'bearer_of' some 'rare' 'inherited digestive tract tumor' SubClassOf 'digestive system neoplasm' 'inherited digestive tract tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017129 inherited cardiac tumor 'inherited cardiac tumor' EquivalentTo 'Heart neoplasm' and ('bearer_of' some 'inherited') 'inherited cardiac tumor' SubClassOf 'bearer_of' some 'rare' 'inherited cardiac tumor' SubClassOf 'genetic disorder' 'inherited cardiac tumor' SubClassOf 'Heart neoplasm' 'inherited cardiac tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017123 arthrogryposis-renal dysfunction-cholestasis syndrome 'arthrogryposis-renal dysfunction-cholestasis syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'arthrogryposis-renal dysfunction-cholestasis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017138 Opitz G/BBB syndrome 'Opitz G/BBB syndrome' SubClassOf 'syndromic respiratory or mediastinal malformation' 'Opitz G/BBB syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Opitz G/BBB syndrome' SubClassOf 'syndromic anorectal malformation' 'Opitz G/BBB syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017139 oromandibular-limb hypogenesis syndrome 'oromandibular-limb hypogenesis syndrome' SubClassOf 'dysostosis of genetic origin' 'oromandibular-limb hypogenesis syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017136 omodysplasia 'omodysplasia' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'omodysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0017131 hereditary cardiac anomaly 'hereditary cardiac anomaly' SubClassOf 'bearer_of' some 'rare' 'hereditary cardiac anomaly' SubClassOf 'disorder of development or morphogenesis' 'hereditary cardiac anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017132 hereditary ATTR amyloidosis 'hereditary ATTR amyloidosis' SubClassOf 'hereditary amyloidosis' 'hereditary ATTR amyloidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0032766 hypoalphalipoproteinemia, primary, 2 'hypoalphalipoproteinemia, primary, 2' SubClassOf 'apolipoprotein A-I deficiency' 'hypoalphalipoproteinemia, primary, 2' SubClassOf 'inborn errors of metabolism' 'hypoalphalipoproteinemia, primary, 2' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension 'heritable pulmonary arterial hypertension' SubClassOf 'idiopathic and/or familial pulmonary arterial hypertension' 'heritable pulmonary arterial hypertension' SubClassOf 'pulmonary arterial hypertension' http://purl.obolibrary.org/obo/MONDO_0017144 alpha-thalassemia and related diseases 'alpha-thalassemia and related diseases' SubClassOf 'anemia' 'alpha-thalassemia and related diseases' SubClassOf 'hemoglobinopathy' 'alpha-thalassemia and related diseases' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017146 sickle cell disease and related diseases 'sickle cell disease and related diseases' SubClassOf 'anemia' 'sickle cell disease and related diseases' SubClassOf 'inherited hemoglobinopathy' 'sickle cell disease and related diseases' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017147 idiopathic pulmonary arterial hypertension 'idiopathic pulmonary arterial hypertension' SubClassOf 'idiopathic and/or familial pulmonary arterial hypertension' 'idiopathic pulmonary arterial hypertension' SubClassOf 'pulmonary arterial hypertension' 'idiopathic pulmonary arterial hypertension' SubClassOf 'idiopathic disease' http://purl.obolibrary.org/obo/MONDO_0017162 imperforate oropharynx-costo vetebral anomalies syndrome 'imperforate oropharynx-costo vetebral anomalies syndrome' SubClassOf 'dysostosis of genetic origin' 'imperforate oropharynx-costo vetebral anomalies syndrome' SubClassOf 'genetic disorder' 'imperforate oropharynx-costo vetebral anomalies syndrome' SubClassOf 'dysostosis' 'imperforate oropharynx-costo vetebral anomalies syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017177 hemihyperplasia-multiple lipomatosis syndrome 'hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'PIK3CA-related overgrowth syndrome' 'hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'overgrowth syndrome' 'hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0017178 osteochondritis dissecans 'osteochondritis dissecans' SubClassOf 'aggrecan-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder 'non-syndromic male infertility due to sperm motility disorder' SubClassOf 'bearer_of' some 'has an isolated presentation' 'non-syndromic male infertility due to sperm motility disorder' EquivalentTo 'male infertility' and ('bearer_of' 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 http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007606 fibrodysplasia ossificans progressiva 'fibrodysplasia ossificans progressiva' SubClassOf 'primary bone dysplasia with disorganized development of skeletal components' 'fibrodysplasia ossificans progressiva' SubClassOf 'genetic disorder' 'fibrodysplasia ossificans progressiva' SubClassOf 'skeletal system disease' 'fibrodysplasia ossificans progressiva' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007607 Birt-Hogg-Dube syndrome 'Birt-Hogg-Dube syndrome' SubClassOf 'inherited skin tumor' 'Birt-Hogg-Dube syndrome' SubClassOf 'autosomal dominant disease' 'Birt-Hogg-Dube syndrome' SubClassOf 'inherited renal cancer-predisposing syndrome' 'Birt-Hogg-Dube syndrome' SubClassOf 'kidney neoplasm' 'Birt-Hogg-Dube syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007604 femoral-facial syndrome 'femoral-facial syndrome' SubClassOf 'non-syndromic limb reduction defect' 'femoral-facial syndrome' SubClassOf 'congenital limb malformation' 'femoral-facial syndrome' SubClassOf 'dysostosis' 'femoral-facial syndrome' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0007614 congenital fibrosis of extraocular muscles 'congenital fibrosis of extraocular muscles' SubClassOf 'eyelids malposition disorder' 'congenital fibrosis of extraocular muscles' SubClassOf 'hereditary neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0007626 familial congenital palsy of trochlear nerve 'familial congenital palsy of trochlear nerve' SubClassOf 'congenital trochlear nerve palsy' 'familial congenital palsy of trochlear nerve' SubClassOf 'hereditary neuro-ophthalmological disease' 'familial congenital palsy of trochlear nerve' SubClassOf 'fourth cranial nerve palsy' 'familial congenital palsy of trochlear nerve' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007620 fish eye disease 'fish eye disease' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0007621 Floating-Harbor syndrome 'Floating-Harbor syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007635 Frasier syndrome 'Frasier syndrome' SubClassOf 'hereditary 46,XY disorder of sex development' 'Frasier syndrome' SubClassOf 'syndromic disease' 'Frasier syndrome' SubClassOf '46,XY disorder of sex development' 'Frasier syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007636 frontorhiny 'frontorhiny' SubClassOf 'hereditary head and neck malformation' 'frontorhiny' SubClassOf 'dysostosis with predominant craniofacial involvement' 'frontorhiny' SubClassOf 'median facial cleft' http://purl.obolibrary.org/obo/MONDO_0007631 chromosome 16p12.1 deletion syndrome, 520kb 'chromosome 16p12.1 deletion syndrome, 520kb' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007648 hereditary diffuse gastric adenocarcinoma 'hereditary diffuse gastric adenocarcinoma' SubClassOf 'hereditary gastro-esophageal disease' http://purl.obolibrary.org/obo/MONDO_0007646 Gamstorp-Wohlfart syndrome 'Gamstorp-Wohlfart syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007656 Gerstmann-Straussler-Scheinker syndrome 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'inherited prion disease' 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'genetic disorder' 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'prion disease' http://purl.obolibrary.org/obo/MONDO_0007653 genochondromatosis 'genochondromatosis' SubClassOf 'primary bone dysplasia with disorganized development of skeletal components' 'genochondromatosis' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007672 glomuvenous malformation 'glomuvenous malformation' SubClassOf 'neurovascular disorder' 'glomuvenous malformation' SubClassOf 'neurovascular malformation' 'glomuvenous malformation' SubClassOf 'simple vascular malformation' 'glomuvenous malformation' SubClassOf 'hereditary vascular anomaly' 'glomuvenous malformation' SubClassOf 'genetic disorder' 'glomuvenous malformation' SubClassOf 'vascular malformation' http://purl.obolibrary.org/obo/MONDO_0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) 'hypotrichosis-lymphedema-telangiectasia syndrome (grouping)' SubClassOf 'lymphatic malformation' 'hypotrichosis-lymphedema-telangiectasia syndrome (grouping)' SubClassOf 'syndromic lymphedema' 'hypotrichosis-lymphedema-telangiectasia syndrome (grouping)' SubClassOf 'syndromic disease' 'hypotrichosis-lymphedema-telangiectasia syndrome (grouping)' SubClassOf 'primary lymphedema' http://purl.obolibrary.org/obo/MONDO_0007698 hand-foot-genital syndrome 'hand-foot-genital syndrome' SubClassOf 'dysostosis with brachydactyly with extraskeletal manifestations' 'hand-foot-genital syndrome' SubClassOf 'dysostosis of genetic origin' 'hand-foot-genital syndrome' SubClassOf 'syndromic uterovaginal malformation' 'hand-foot-genital syndrome' SubClassOf 'syndromic disease' 'hand-foot-genital syndrome' SubClassOf 'reproductive system disease' 'hand-foot-genital syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0017027 primary interstitial lung disease specific to adulthood 'primary interstitial lung disease specific to adulthood' SubClassOf 'interstitial lung disease specific to adulthood' http://purl.obolibrary.org/obo/MONDO_0017040 exposure-related interstitial lung disease 'exposure-related interstitial lung disease' SubClassOf 'secondary interstitial lung disease in childhood and adulthood' http://purl.obolibrary.org/obo/MONDO_0017034 secondary interstitial lung disease in childhood and adulthood 'secondary interstitial lung disease in childhood and adulthood' SubClassOf 'interstitial lung disease in childhood and adulthood' http://purl.obolibrary.org/obo/MONDO_0017030 interstitial lung disease in childhood and adulthood 'interstitial lung disease in childhood and adulthood' SubClassOf 'interstitial lung disease' http://purl.obolibrary.org/obo/MONDO_0017031 primary interstitial lung disease in childhood and adulthood 'primary interstitial lung disease in childhood and adulthood' SubClassOf 'interstitial lung disease in childhood and adulthood' http://purl.obolibrary.org/obo/MONDO_0017049 hypomyelination neuropathy-arthrogryposis syndrome 'hypomyelination neuropathy-arthrogryposis syndrome' SubClassOf 'arthrogryposis multiplex congenita' 'hypomyelination neuropathy-arthrogryposis syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 'osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome' SubClassOf 'genetic disorder' 'osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome' SubClassOf 'disorder of visual system' 'osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017057 hereditary thrombocytopenia with normal platelets 'hereditary thrombocytopenia with normal platelets' SubClassOf 'isolated constitutional thrombocytopenia' 'hereditary thrombocytopenia with normal platelets' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017059 neural tube closure defect 'neural tube closure defect' SubClassOf 'neural tube defect' 'neural tube closure defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017084 leptomyelolipoma 'leptomyelolipoma' SubClassOf 'neural tube closure defect' 'leptomyelolipoma' SubClassOf 'neural tube defect' http://purl.obolibrary.org/obo/MONDO_0017078 cephalocele 'cephalocele' SubClassOf 'neural tube closure defect' 'cephalocele' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017094 cerebral cortical dysplasia 'cerebral cortical dysplasia' SubClassOf 'cerebral malformation' 'cerebral cortical dysplasia' SubClassOf 'disorder of development or morphogenesis' 'cerebral cortical dysplasia' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0017090 midline cerebral malformation 'midline cerebral malformation' SubClassOf 'cerebral malformation' 'midline cerebral malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017089 isolated megalencephaly 'isolated megalencephaly' SubClassOf 'non-syndromic central nervous system malformation' 'isolated megalencephaly' SubClassOf 'bearer_of' some 'has an isolated presentation' 'isolated megalencephaly' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007507 absence of fingerprints-congenital milia syndrome 'absence of fingerprints-congenital milia syndrome' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0007526 Ehlers-Danlos syndrome, spondylodysplastic type 'Ehlers-Danlos syndrome, spondylodysplastic type' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 'Ehlers-Danlos syndrome, spondylodysplastic type' SubClassOf 'disorder of O-xylosylglycan synthesis' 'Ehlers-Danlos syndrome, spondylodysplastic type' SubClassOf 'inborn errors of metabolism' 'Ehlers-Danlos syndrome, spondylodysplastic type' SubClassOf 'bearer_of' some 'congenital' 'Ehlers-Danlos syndrome, spondylodysplastic type' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0007536 congenital lobar emphysema 'congenital lobar emphysema' SubClassOf 'respiratory or mediastinal malformation' 'congenital lobar emphysema' SubClassOf 'respiratory malformation' 'congenital lobar emphysema' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007537 lateral meningocele syndrome 'lateral meningocele syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome 'Beckwith-Wiedemann syndrome' SubClassOf 'inherited renal cancer-predisposing syndrome' 'Beckwith-Wiedemann syndrome' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0007533 elliptocytosis 2 'elliptocytosis 2' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0007542 Camurati-Engelmann disease 'Camurati-Engelmann disease' SubClassOf 'primary bone dysplasia with increased bone density' 'Camurati-Engelmann disease' SubClassOf 'skeletal dysplasia' http://www.ebi.ac.uk/efo/EFO_0003811 refractory anemia with excess blasts 'refractory anemia with excess blasts' SubClassOf 'hematopoietic and lymphoid cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0007540 multiple endocrine neoplasia type 1 'multiple endocrine neoplasia type 1' SubClassOf 'inherited digestive cancer-predisposing syndrome' http://purl.obolibrary.org/obo/MONDO_0007558 benign occipital epilepsy 'benign occipital epilepsy' SubClassOf 'childhood-onset epilepsy syndrome' 'benign occipital epilepsy' SubClassOf 'epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0007585 exostoses, multiple, type 1 'exostoses, multiple, type 1' SubClassOf 'primary bone dysplasia with disorganized development of skeletal components' http://www.ebi.ac.uk/efo/EFO_0003779 Hashimoto's thyroiditis 'Hashimoto's thyroiditis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007404 Cri-du-chat syndrome 'Cri-du-chat syndrome' SubClassOf 'neuro-ophthalmological disease' 'Cri-du-chat syndrome' SubClassOf 'syndromic epicanthus' 'Cri-du-chat syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007403 inherited Creutzfeldt-Jakob disease 'inherited Creutzfeldt-Jakob disease' SubClassOf 'inherited prion disease' 'inherited Creutzfeldt-Jakob disease' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0007417 Darier disease 'Darier disease' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0007414 Gorham-Stout disease 'Gorham-Stout disease' SubClassOf 'bone benign neoplasm' 'Gorham-Stout disease' SubClassOf 'primary bone dysplasia with disorganized development of skeletal components' 'Gorham-Stout disease' SubClassOf 'congenital vascular bone syndrome' 'Gorham-Stout disease' SubClassOf 'hereditary disorder of connective tissue' 'Gorham-Stout disease' SubClassOf 'vascular bone neoplasm' 'Gorham-Stout disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007410 isolated cryptophthalmia 'isolated cryptophthalmia' SubClassOf 'non-syndromic developmental defect of the eye' 'isolated cryptophthalmia' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0007422 keratoderma hereditarium mutilans 'keratoderma hereditarium mutilans' SubClassOf 'autosomal dominant diffuse mutilating palmoplantar keratoderma' 'keratoderma hereditarium mutilans' SubClassOf 'genetic disorder' 'keratoderma hereditarium mutilans' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0007420 autosomal dominant deafness - onychodystrophy syndrome 'autosomal dominant deafness - onychodystrophy syndrome' SubClassOf 'autosomal dominant disease' 'autosomal dominant deafness - onychodystrophy syndrome' SubClassOf 'deafness-onychodystrophy syndrome' 'autosomal dominant deafness - onychodystrophy syndrome' SubClassOf 'genetic disorder' 'autosomal dominant deafness - onychodystrophy syndrome' SubClassOf 'integumentary system disease' 'autosomal dominant deafness - onychodystrophy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 'cerebral arteriopathy with subcortical infarcts and leukoencephalopathy' SubClassOf 'cerebrovascular dementia' 'cerebral arteriopathy with subcortical infarcts and leukoencephalopathy' SubClassOf 'hereditary dementia' 'cerebral arteriopathy with subcortical infarcts and leukoencephalopathy' SubClassOf 'vascular disease' 'cerebral arteriopathy with subcortical infarcts and leukoencephalopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007477 3-M syndrome '3-M syndrome' SubClassOf 'slender bone dysplasia' '3-M syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007478 autosomal dominant Kenny-Caffey syndrome 'autosomal dominant Kenny-Caffey syndrome' SubClassOf 'primordial dwarfism and slender bone disorder' http://purl.obolibrary.org/obo/MONDO_0007473 Duane retraction syndrome 'Duane retraction syndrome' SubClassOf 'hereditary neuro-ophthalmological disease' 'Duane retraction syndrome' SubClassOf 'cranial nerve and nuclear aplasia' 'Duane retraction syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007481 Leri-Weill dyschondrosteosis 'Leri-Weill dyschondrosteosis' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'Leri-Weill dyschondrosteosis' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007489 dysplasia epiphysealis hemimelica 'dysplasia epiphysealis hemimelica' SubClassOf 'primary bone dysplasia with disorganized development of skeletal components' 'dysplasia epiphysealis hemimelica' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007486 hereditary benign intraepithelial dyskeratosis 'hereditary benign intraepithelial dyskeratosis' SubClassOf 'syndromic corneal dystrophy' 'hereditary benign intraepithelial dyskeratosis' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007482 dyschondrosteosis-nephritis syndrome 'dyschondrosteosis-nephritis syndrome' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'dyschondrosteosis-nephritis syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007495 dystonia 5 'dystonia 5' SubClassOf 'disorder of pterin metabolism' 'dystonia 5' SubClassOf 'inherited dystonia' http://purl.obolibrary.org/obo/MONDO_0007496 dystonia 12 'dystonia 12' SubClassOf 'persistent combined dystonia' 'dystonia 12' SubClassOf 'combined dystonia' http://purl.obolibrary.org/obo/MONDO_0007301 cerebrocostomandibular syndrome 'cerebrocostomandibular syndrome' SubClassOf 'dysostosis with predominant vertebral with and without costal involvement' 'cerebrocostomandibular syndrome' SubClassOf 'syndromic disease' 'cerebrocostomandibular syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007318 Alagille syndrome 'Alagille syndrome' SubClassOf 'syndromic visceral malformation' 'Alagille syndrome' SubClassOf 'hereditary biliary tract disease' 'Alagille syndrome' SubClassOf 'syndromic disease' 'Alagille syndrome' SubClassOf 'genetic disorder' 'Alagille syndrome' SubClassOf 'biliary tract disease' 'Alagille syndrome' SubClassOf 'bearer_of' some 'rare' 'Alagille syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007315 cherubism 'cherubism' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'cherubism' SubClassOf 'primary bone dysplasia with disorganized development of skeletal components' 'cherubism' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0007334 autosomal dominant popliteal pterygium syndrome 'autosomal dominant popliteal pterygium syndrome' SubClassOf 'syndromic ankyloblepharon' http://purl.obolibrary.org/obo/MONDO_0007330 congenital pseudoarthrosis of clavicle 'congenital pseudoarthrosis of clavicle' SubClassOf 'dysostosis of genetic origin' 'congenital pseudoarthrosis of clavicle' SubClassOf 'dysostosis' 'congenital pseudoarthrosis of clavicle' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007343 isolated congenital digital clubbing 'isolated congenital digital clubbing' SubClassOf 'joint formation defects' 'isolated congenital digital clubbing' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0007341 cleidorhizomelic syndrome 'cleidorhizomelic syndrome' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'cleidorhizomelic syndrome' SubClassOf 'syndromic disease' 'cleidorhizomelic syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007340 cleidocranial dysplasia 1 'cleidocranial dysplasia 1' SubClassOf 'cranial malformation' http://purl.obolibrary.org/obo/MONDO_0007355 uveal coloboma-cleft lip and palate-intellectual disability 'uveal coloboma-cleft lip and palate-intellectual disability' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007352 renal coloboma syndrome 'renal coloboma syndrome' SubClassOf 'syndromic disease' 'renal coloboma syndrome' SubClassOf 'developmental defect of the eye' 'renal coloboma syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007363 congenital contractural arachnodactyly 'congenital contractural arachnodactyly' SubClassOf 'overgrowth or tall stature syndrome with skeletal involvement' http://purl.obolibrary.org/obo/MONDO_0007376 fleck corneal dystrophy 'fleck corneal dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007374 Schnyder corneal dystrophy 'Schnyder corneal dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007381 epithelial recurrent erosion dystrophy 'epithelial recurrent erosion dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007383 Stern-Lubinsky-Durrie syndrome 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'syndromic corneal dystrophy' 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'disorder of visual system' http://purl.obolibrary.org/obo/MONDO_0007384 congenital trigeminal anesthesia 'congenital trigeminal anesthesia' SubClassOf 'hereditary neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0007399 TWIST1-related craniosynostosis 'TWIST1-related craniosynostosis' SubClassOf 'isolated plagiocephaly' 'TWIST1-related craniosynostosis' SubClassOf 'isolated brachycephaly' 'TWIST1-related craniosynostosis' SubClassOf 'isolated scaphocephaly' http://purl.obolibrary.org/obo/MONDO_0007395 craniofacial-deafness-hand syndrome 'craniofacial-deafness-hand syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013003 isolated congenital hypoglossia/aglossia 'isolated congenital hypoglossia/aglossia' SubClassOf 'hypoglossia/aglossia' 'isolated congenital hypoglossia/aglossia' SubClassOf 'tongue disorder' 'isolated congenital hypoglossia/aglossia' SubClassOf 'oromandibular-limb hypogenesis syndrome' http://purl.obolibrary.org/obo/MONDO_0013000 porphyria due to ALA dehydratase deficiency 'porphyria due to ALA dehydratase deficiency' SubClassOf 'inherited porphyria' http://purl.obolibrary.org/obo/MONDO_0013014 spondyloepimetaphyseal dysplasia, aggrecan type 'spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'aggrecan-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0013021 sterile multifocal osteomyelitis with periostitis and pustulosis 'sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'pyogenic autoinflammatory syndrome' 'sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'autoinflammatory syndrome' 'sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0013038 CLOVES syndrome 'CLOVES syndrome' SubClassOf 'hereditary vascular anomaly' 'CLOVES syndrome' SubClassOf 'inherited skin tumor' 'CLOVES syndrome' SubClassOf 'cardiovascular organ benign neoplasm' 'CLOVES syndrome' SubClassOf 'hereditary disorder of connective tissue' 'CLOVES syndrome' SubClassOf 'vascular bone neoplasm' 'CLOVES syndrome' SubClassOf 'overgrowth or tall stature syndrome with skeletal involvement' 'CLOVES syndrome' SubClassOf 'bone benign neoplasm' 'CLOVES syndrome' SubClassOf 'PIK3CA-related overgrowth syndrome' 'CLOVES syndrome' SubClassOf 'hereditary skin disorder' 'CLOVES syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013048 hereditary spastic paraplegia 50 'hereditary spastic paraplegia 50' SubClassOf 'AP4-related intellectual disability and spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013050 lethal polymalformative syndrome, Boissel type 'lethal polymalformative syndrome, Boissel type' SubClassOf 'lethal multiple congenital anomalies/dysmorphic syndrome' 'lethal polymalformative syndrome, Boissel type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013074 encephalocraniocutaneous lipomatosis 'encephalocraniocutaneous lipomatosis' SubClassOf 'inherited skin tumor' 'encephalocraniocutaneous lipomatosis' SubClassOf 'inherited soft tissue tumor' 'encephalocraniocutaneous lipomatosis' SubClassOf 'hereditary skin disorder' 'encephalocraniocutaneous lipomatosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013082 Hirschsprung disease-ganglioneuroblastoma syndrome 'Hirschsprung disease-ganglioneuroblastoma syndrome' SubClassOf 'syndromic anorectal malformation' 'Hirschsprung disease-ganglioneuroblastoma syndrome' SubClassOf 'bearer_of' some 'rare' 'Hirschsprung disease-ganglioneuroblastoma syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0004191 androgenetic alopecia 'androgenetic alopecia' SubClassOf 'hereditary alopecia' 'androgenetic alopecia' SubClassOf 'hereditary skin disorder' http://www.ebi.ac.uk/efo/EFO_0004192 alopecia areata 'alopecia areata' SubClassOf 'hereditary alopecia' 'alopecia areata' SubClassOf 'hereditary skin disorder' http://www.ebi.ac.uk/efo/EFO_0004129 familial amyloid neuropathy 'familial amyloid neuropathy' SubClassOf 'hereditary ATTR amyloidosis' 'familial amyloid neuropathy' SubClassOf 'hereditary amyloidosis' http://purl.obolibrary.org/obo/MONDO_0017955 granulomatous autoinflammatory syndrome 'granulomatous autoinflammatory syndrome' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0017954 pyogenic autoinflammatory syndrome 'pyogenic autoinflammatory syndrome' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0017950 microcephalic primordial dwarfism 'microcephalic primordial dwarfism' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephalic primordial dwarfism' SubClassOf 'slender bone dysplasia' 'microcephalic primordial dwarfism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017966 46,XY disorder of gonadal development '46,XY disorder of gonadal development' SubClassOf 'bearer_of' some 'rare' '46,XY disorder of gonadal development' SubClassOf '46,XY disorder of sex development' '46,XY disorder of gonadal development' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017967 testicular agenesis 'testicular agenesis' SubClassOf '46,XY disorder of gonadal development' 'testicular agenesis' SubClassOf 'bearer_of' some 'rare' 'testicular agenesis' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0017968 46,XY ovotesticular disorder of sex development '46,XY ovotesticular disorder of sex development' SubClassOf '46,XY disorder of gonadal development' '46,XY ovotesticular disorder of sex development' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0017969 46,XY disorder of sex development of endocrine origin '46,XY disorder of sex development of endocrine origin' SubClassOf '46,XY disorder of sex development' '46,XY disorder of sex development of endocrine origin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017962 46,XX disorder of sex development induced by fetoplacental androgens excess '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf 'female reproductive system disease' '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf 'bearer_of' some 'rare' '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf '46,XX disorder of sex development induced by androgens excess' '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017961 46,XX disorder of gonadal development '46,XX disorder of gonadal development' SubClassOf 'bearer_of' some 'rare' '46,XX disorder of gonadal development' SubClassOf '46,XX disorder of sex development' '46,XX disorder of gonadal development' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017979 autoimmune lymphoproliferative syndrome 'autoimmune lymphoproliferative syndrome' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' http://purl.obolibrary.org/obo/MONDO_0017985 congenital radioulnar synostosis 'congenital radioulnar synostosis' SubClassOf 'joint formation defects' 'congenital radioulnar synostosis' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0017980 syngnathia multiple anomalies 'syngnathia multiple anomalies' SubClassOf 'dysostosis of genetic origin' 'syngnathia multiple anomalies' SubClassOf 'dysostosis' 'syngnathia multiple anomalies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017983 humero-radio-ulnar synostosis 'humero-radio-ulnar synostosis' SubClassOf 'joint formation defects' 'humero-radio-ulnar synostosis' SubClassOf 'genetic disorder' 'humero-radio-ulnar synostosis' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0017999 fatty acid hydroxylase-associated neurodegeneration 'fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'autosomal recessive complex spastic paraplegia' 'fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0017995 spondylocostal dysostosis-hypospadias-intellectual disability syndrome 'spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf 'dysostosis of genetic origin' 'spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf 'syndromic disease' 'spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'autoinflammatory syndrome' 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'immune system disease' 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0042981 aortic valve stenosis 'aortic valve stenosis' SubClassOf 'aortic malformation' 'aortic valve stenosis' SubClassOf 'ascending aorta anomaly' 'aortic valve stenosis' SubClassOf 'disorder of development or morphogenesis' http://www.orpha.net/ORDO/Orphanet_208508 Autosomal dominant cerebellar ataxia type 2 'Autosomal dominant cerebellar ataxia type 2' SubClassOf 'hereditary neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0017837 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome 'multiple sclerosis-ichthyosis-factor VIII deficiency syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'multiple sclerosis-ichthyosis-factor VIII deficiency syndrome' SubClassOf 'inherited blood coagulation disorder' 'multiple sclerosis-ichthyosis-factor VIII deficiency syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome 'Senior-Loken syndrome' SubClassOf 'retinal ciliopathy' 'Senior-Loken syndrome' SubClassOf 'nephropathy-associated ciliopathy' 'Senior-Loken syndrome' SubClassOf 'inherited vitreous-retinal disease' 'Senior-Loken syndrome' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_0017857 spina bifida-hypospadias syndrome 'spina bifida-hypospadias syndrome' SubClassOf 'syndromic urogenital tract malformation' 'spina bifida-hypospadias syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017853 hypersensitivity pneumonitis 'hypersensitivity pneumonitis' SubClassOf 'exposure-related interstitial lung disease' 'hypersensitivity pneumonitis' SubClassOf 'interstitial lung disease' http://purl.obolibrary.org/obo/MONDO_0017851 erythrokeratodermia variabilis 'erythrokeratodermia variabilis' SubClassOf 'inherited non-syndromic ichthyosis' 'erythrokeratodermia variabilis' SubClassOf 'isolated diffuse palmoplantar keratoderma' 'erythrokeratodermia variabilis' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0017868 diencephalic-mesencephalic junction dysplasia 'diencephalic-mesencephalic junction dysplasia' SubClassOf 'hereditary cerebral malformation' 'diencephalic-mesencephalic junction dysplasia' SubClassOf 'disorder of development or morphogenesis' 'diencephalic-mesencephalic junction dysplasia' SubClassOf 'genetic disorder' 'diencephalic-mesencephalic junction dysplasia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017891 inherited renal cancer-predisposing syndrome 'inherited renal cancer-predisposing syndrome' SubClassOf 'inherited kidney disorder' 'inherited renal cancer-predisposing syndrome' SubClassOf 'hereditary neoplastic syndrome' 'inherited renal cancer-predisposing syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0003291 leiomyoma cutis 'leiomyoma cutis' SubClassOf 'benign neoplasm of skin' 'leiomyoma cutis' SubClassOf 'leiomyoma' 'leiomyoma cutis' SubClassOf 'dermis tumor' http://purl.obolibrary.org/obo/MONDO_0017915 pure or complex autosomal recessive spastic paraplegia 'pure or complex autosomal recessive spastic paraplegia' SubClassOf 'pure or complex hereditary spastic paraplegia' 'pure or complex autosomal recessive spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017916 pure or complex X-linked spastic paraplegia 'pure or complex X-linked spastic paraplegia' SubClassOf 'pure or complex hereditary spastic paraplegia' 'pure or complex X-linked spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017912 X-linked pure spastic paraplegia 'X-linked pure spastic paraplegia' SubClassOf 'pure hereditary spastic paraplegia' 'X-linked pure spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017914 pure or complex autosomal dominant spastic paraplegia 'pure or complex autosomal dominant spastic paraplegia' SubClassOf 'pure or complex hereditary spastic paraplegia' 'pure or complex autosomal dominant spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017929 congenital achiasma 'congenital achiasma' SubClassOf 'cranial nerve and nuclear aplasia' 'congenital achiasma' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017922 deafness-onychodystrophy syndrome 'deafness-onychodystrophy syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'deafness-onychodystrophy syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017923 multiple synostoses syndrome 'multiple synostoses syndrome' SubClassOf 'dysostosis of genetic origin' 'multiple synostoses syndrome' SubClassOf 'syndromic disease' 'multiple synostoses syndrome' SubClassOf 'dysostosis' 'multiple synostoses syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome 'central nervous system calcification-deafness-tubular acidosis-anemia syndrome' SubClassOf 'primary renal tubular acidosis' 'central nervous system calcification-deafness-tubular acidosis-anemia syndrome' SubClassOf 'syndromic disease' 'central nervous system calcification-deafness-tubular acidosis-anemia syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017925 T-cell immunodeficiency with epidermodysplasia verruciformis 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 'deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome' SubClassOf 'syndromic urogenital tract malformation' 'deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation 'hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'primary renal tubular acidosis' 'hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0017735 congenital aortic valve stenosis 'congenital aortic valve stenosis' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017742 disorder of O-xylosylglycan synthesis 'disorder of O-xylosylglycan synthesis' SubClassOf 'disorder of protein O-glycosylation' 'disorder of O-xylosylglycan synthesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017743 disorder of O-N-acetylgalactosaminylglycan synthesis 'disorder of O-N-acetylgalactosaminylglycan synthesis' SubClassOf 'disorder of protein O-glycosylation' 'disorder of O-N-acetylgalactosaminylglycan synthesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017744 disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis 'disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' SubClassOf 'disorder of protein O-glycosylation' 'disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017745 disorder of O-mannosylglycan synthesis 'disorder of O-mannosylglycan synthesis' SubClassOf 'disorder of protein O-glycosylation' 'disorder of O-mannosylglycan synthesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017756 disorder of pterin metabolism 'disorder of pterin metabolism' SubClassOf 'inborn disorder of neurotransmitter metabolism and transport' 'disorder of pterin metabolism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0003125 testicular sex cord-stromal neoplasm 'testicular sex cord-stromal neoplasm' SubClassOf 'tumor of testis and paratestis' http://purl.obolibrary.org/obo/MONDO_0003122 striatonigral degeneration 'striatonigral degeneration' SubClassOf 'inborn errors of metabolism' 'striatonigral degeneration' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0017760 disorder of other vitamins and cofactors metabolism and transport 'disorder of other vitamins and cofactors metabolism and transport' SubClassOf 'disorder of vitamin and non-protein cofactor absorption and transport' 'disorder of other vitamins and cofactors metabolism and transport' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017778 lamellar ichthyosis 'lamellar ichthyosis' SubClassOf 'inherited non-syndromic ichthyosis' 'lamellar ichthyosis' SubClassOf 'secondary ectropion' 'lamellar ichthyosis' SubClassOf 'eye disease' 'lamellar ichthyosis' SubClassOf 'hereditary skin disorder' 'lamellar ichthyosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017771 Mayer-Rokitansky-Kuster-Hauser syndrome 'Mayer-Rokitansky-Kuster-Hauser syndrome' SubClassOf 'syndromic uterovaginal malformation' 'Mayer-Rokitansky-Kuster-Hauser syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017785 PENS syndrome 'PENS syndrome' SubClassOf 'inherited skin tumor' 'PENS syndrome' SubClassOf 'bearer_of' some 'rare' 'PENS syndrome' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0003193 bile duct adenocarcinoma 'bile duct adenocarcinoma' SubClassOf 'adenocarcinoma of liver and intrahepatic biliary tract' 'bile duct adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0004209 hypospadias 'hypospadias' SubClassOf 'non-syndromic urogenital tract malformation of male' 'hypospadias' SubClassOf 'disorder of development or morphogenesis' 'hypospadias' SubClassOf 'reproductive system disease' 'hypospadias' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0004246 mucocutaneous lymph node syndrome 'mucocutaneous lymph node syndrome' SubClassOf 'predominantly medium-vessel vasculitis' 'mucocutaneous lymph node syndrome' SubClassOf 'vasculitis' 'mucocutaneous lymph node syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017808 duplication of the pituitary gland 'duplication of the pituitary gland' SubClassOf 'midline cerebral malformation' 'duplication of the pituitary gland' SubClassOf 'disorder of development or morphogenesis' 'duplication of the pituitary gland' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 'autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'genetic disorder' 'autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017812 segmental progressive overgrowth syndrome with fibroadipose hyperplasia 'segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf 'PIK3CA-related overgrowth syndrome' 'segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion 'severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion' SubClassOf 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome' 'severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017828 primary renal tubular acidosis 'primary renal tubular acidosis' SubClassOf 'inherited renal tubular disease' 'primary renal tubular acidosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017829 autosomal dominant proximal renal tubular acidosis 'autosomal dominant proximal renal tubular acidosis' SubClassOf 'inborn errors of metabolism' 'autosomal dominant proximal renal tubular acidosis' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0017609 renal tubular dysgenesis 'renal tubular dysgenesis' SubClassOf 'non-syndromic renal or urinary tract malformation' 'renal tubular dysgenesis' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome 'X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome' SubClassOf 'X-linked ichthyosis syndrome' 'X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome' SubClassOf 'autosomal ichthyosis syndrome' http://purl.obolibrary.org/obo/MONDO_0017629 sodium channelopathy-related small fiber neuropathy 'sodium channelopathy-related small fiber neuropathy' SubClassOf 'autosomal dominant disease' 'sodium channelopathy-related small fiber neuropathy' SubClassOf 'hereditary peripheral neuropathy' 'sodium channelopathy-related small fiber neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017627 congenital hereditary facial paralysis-variable hearing loss syndrome 'congenital hereditary facial paralysis-variable hearing loss syndrome' SubClassOf 'cranial nerve and nuclear aplasia' 'congenital hereditary facial paralysis-variable hearing loss syndrome' SubClassOf 'paralytic facial malformation' 'congenital hereditary facial paralysis-variable hearing loss syndrome' SubClassOf 'syndromic disease' 'congenital hereditary facial paralysis-variable hearing loss syndrome' SubClassOf 'disorder of facial skeleton' http://purl.obolibrary.org/obo/MONDO_0017656 motor stereotypies 'motor stereotypies' SubClassOf 'movement disorder' 'motor stereotypies' SubClassOf 'bearer_of' some 'rare' 'motor stereotypies' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017651 primary myoclonus 'primary myoclonus' SubClassOf 'movement disorder' 'primary myoclonus' SubClassOf 'bearer_of' some 'rare' 'primary myoclonus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017667 isolated diffuse palmoplantar keratoderma 'isolated diffuse palmoplantar keratoderma' SubClassOf 'bearer_of' some 'has an isolated presentation' 'isolated diffuse palmoplantar keratoderma' SubClassOf 'diffuse palmoplantar keratoderma' 'isolated diffuse palmoplantar keratoderma' EquivalentTo 'diffuse palmoplantar keratoderma' and ('bearer_of' some 'has an isolated presentation') 'isolated diffuse palmoplantar keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017676 marginal papular palmoplantar keratoderma 'marginal papular palmoplantar keratoderma' SubClassOf 'isolated punctate palmoplantar keratoderma' 'marginal papular palmoplantar keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017677 focal acral hyperkeratosis 'focal acral hyperkeratosis' SubClassOf 'marginal papular palmoplantar keratoderma' 'focal acral hyperkeratosis' SubClassOf 'punctate palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0017673 isolated focal palmoplantar keratoderma 'isolated focal palmoplantar keratoderma' EquivalentTo 'focal palmoplantar keratoderma' and ('bearer_of' some 'has an isolated presentation') 'isolated focal palmoplantar keratoderma' SubClassOf 'focal palmoplantar keratoderma' 'isolated focal palmoplantar keratoderma' SubClassOf 'bearer_of' some 'has an isolated presentation' 'isolated focal palmoplantar keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017670 autosomal dominant diffuse mutilating palmoplantar keratoderma 'autosomal dominant diffuse mutilating palmoplantar keratoderma' SubClassOf 'diffuse palmoplantar keratoderma' 'autosomal dominant diffuse mutilating palmoplantar keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017688 disorder of glycolysis 'disorder of glycolysis' SubClassOf 'inborn disorder of purine or pyrimidine metabolism' http://purl.obolibrary.org/obo/MONDO_0017686 inborn aminoacylase deficiency 'inborn aminoacylase deficiency' SubClassOf 'cerebral organic aciduria' 'inborn aminoacylase deficiency' SubClassOf 'inborn errors of metabolism' 'inborn aminoacylase deficiency' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0017709 disorder of lipid absorption and transport 'disorder of lipid absorption and transport' SubClassOf 'inherited lipid metabolism disorder' 'disorder of lipid absorption and transport' SubClassOf 'bearer_of' some 'rare' 'disorder of lipid absorption and transport' SubClassOf 'pancreas disease' 'disorder of lipid absorption and transport' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017508 congenital absence/hypoplasia of fingers excluding thumb, bilateral 'congenital absence/hypoplasia of fingers excluding thumb, bilateral' SubClassOf 'congenital absence/hypoplasia of fingers excluding thumb' 'congenital absence/hypoplasia of fingers excluding thumb, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017506 congenital absence/hypoplasia of thumb, unilateral 'congenital absence/hypoplasia of thumb, unilateral' SubClassOf 'congenital absence/hypoplasia of thumb' 'congenital absence/hypoplasia of thumb, unilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017507 congenital absence/hypoplasia of thumb, bilateral 'congenital absence/hypoplasia of thumb, bilateral' SubClassOf 'congenital absence/hypoplasia of thumb' 'congenital absence/hypoplasia of thumb, bilateral' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017562 congenital patella dislocation, unilateral 'congenital patella dislocation, unilateral' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017563 congenital patella dislocation, bilateral 'congenital patella dislocation, bilateral' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017579 Baraitser-Winter cerebrofrontofacial syndrome 'Baraitser-Winter cerebrofrontofacial syndrome' SubClassOf 'eyelids malposition disorder' 'Baraitser-Winter cerebrofrontofacial syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017573 46,XX disorder of sex development-anorectal anomalies syndrome '46,XX disorder of sex development-anorectal anomalies syndrome' SubClassOf 'syndromic uterovaginal malformation' '46,XX disorder of sex development-anorectal anomalies syndrome' SubClassOf 'syndromic anorectal malformation' '46,XX disorder of sex development-anorectal anomalies syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017575 mitochondrial neurogastrointestinal encephalomyopathy 'mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'eyelids malposition disorder' 'mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017571 Proteus-like syndrome 'Proteus-like syndrome' SubClassOf 'inherited skin tumor' 'Proteus-like syndrome' SubClassOf 'integumentary system disease' 'Proteus-like syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'Proteus-like syndrome' SubClassOf 'genetic disorder' 'Proteus-like syndrome' SubClassOf 'cancer or benign tumor' http://purl.obolibrary.org/obo/MONDO_0017581 familial infantile gigantism 'familial infantile gigantism' SubClassOf 'endocrine system disease' 'familial infantile gigantism' SubClassOf http://www.w3.org/2002/07/owl#Thing 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 'developmental defect of the eye' http://purl.obolibrary.org/obo/MONDO_0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 'autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 'metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf 'primary bone dysplasia with disorganized development of skeletal components' 'metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf 'skeletal system disease' 'metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013960 sinoatrial node dysfunction and deafness 'sinoatrial node dysfunction and deafness' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013962 hereditary spastic paraplegia 53 'hereditary spastic paraplegia 53' SubClassOf 'autosomal recessive complex spastic paraplegia' 'hereditary spastic paraplegia 53' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013981 myoclonus, familial 'myoclonus, familial' SubClassOf 'primary myoclonus' 'myoclonus, familial' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0013808 Maffucci syndrome 'Maffucci syndrome' SubClassOf 'hereditary vascular anomaly' 'Maffucci syndrome' SubClassOf 'inherited skin tumor' 'Maffucci syndrome' SubClassOf 'skin neoplasm' 'Maffucci syndrome' SubClassOf 'hereditary skin disorder' 'Maffucci syndrome' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0013800 Ehlers-Danlos syndrome, kyphoscoliotic and deafness type 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' SubClassOf 'kyphoscoliotic Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' SubClassOf 'primary bone dysplasia with multiple joint dislocations' 'Ehlers-Danlos syndrome, kyphoscoliotic and deafness type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100530 http://purl.obolibrary.org/obo/MONDO_0037807 glycerol metabolism disease 'glycerol metabolism disease' SubClassOf 'carbohydrate metabolism disease' http://purl.obolibrary.org/obo/MONDO_0013839 hereditary sensory and autonomic neuropathy type 6 'hereditary sensory and autonomic neuropathy type 6' SubClassOf 'autosomal recessive hereditary sensory and autonomic neuropathy' 'hereditary sensory and autonomic neuropathy type 6' SubClassOf 'hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 'intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013860 idiopathic membranous glomerulonephritis 'idiopathic membranous glomerulonephritis' SubClassOf 'hereditary nephritis' http://purl.obolibrary.org/obo/MONDO_0013870 TMEM165-congenital disorder of glycosylation 'TMEM165-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0013885 Malan overgrowth syndrome 'Malan overgrowth syndrome' SubClassOf 'overgrowth or tall stature syndrome with skeletal involvement' 'Malan overgrowth syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 'short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'slender bone dysplasia' 'short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'primordial dwarfism and slender bone disorder' 'short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0013892 C3 glomerulonephritis 'C3 glomerulonephritis' SubClassOf 'hereditary nephritis' http://purl.obolibrary.org/obo/MONDO_0013898 karyomegalic interstitial nephritis 'karyomegalic interstitial nephritis' SubClassOf 'hereditary nephritis' http://purl.obolibrary.org/obo/MONDO_0013890 congenital myopathy with internal nuclei and atypical cores 'congenital myopathy with internal nuclei and atypical cores' SubClassOf 'congenital myopathy with cores' http://www.ebi.ac.uk/efo/EFO_0008587 gender identity disorder 'gender identity disorder' SubClassOf 'psychiatric disorder' http://purl.obolibrary.org/obo/MONDO_0013700 pancreatic triacylglycerol lipase deficiency 'pancreatic triacylglycerol lipase deficiency' SubClassOf 'disorder of lipid absorption and transport' 'pancreatic triacylglycerol lipase deficiency' SubClassOf 'inherited lipid metabolism disorder' 'pancreatic triacylglycerol lipase deficiency' SubClassOf 'pancreas disease' http://purl.obolibrary.org/obo/MONDO_0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome' 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'primary bone dysplasia with increased bone density' 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'reproductive system disease' 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'syndromic disease' 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0013737 hereditary spastic paraplegia 46 'hereditary spastic paraplegia 46' SubClassOf 'autosomal recessive complex spastic paraplegia' 'hereditary spastic paraplegia 46' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013741 familial temporal lobe epilepsy 5 'familial temporal lobe epilepsy 5' SubClassOf 'familial mesial temporal lobe epilepsy with febrile seizures' 'familial temporal lobe epilepsy 5' SubClassOf 'benign familial mesial temporal lobe epilepsy' http://purl.obolibrary.org/obo/MONDO_0013742 familial mesial temporal lobe epilepsy with febrile seizures 'familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'familial partial epilepsy' 'familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'febrile seizures, familial' 'familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013743 autosomal systemic lupus erythematosus type 16 'autosomal systemic lupus erythematosus type 16' SubClassOf 'type 1 interferonopathy' http://purl.obolibrary.org/obo/MONDO_0013762 lipoic acid synthetase deficiency 'lipoic acid synthetase deficiency' SubClassOf 'cerebral organic aciduria' http://purl.obolibrary.org/obo/MONDO_0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 'congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome' SubClassOf 'autosomal ichthyosis syndrome' http://purl.obolibrary.org/obo/MONDO_0013771 transient infantile hypertriglyceridemia and hepatosteatosis 'transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'hereditary parenchymatous liver disease' 'transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'genetic disorder' 'transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'liver disease' 'transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0023113 familial colorectal cancer 'familial colorectal cancer' SubClassOf 'inherited digestive tract tumor' 'familial colorectal cancer' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0008514 neurofibromatosis 'neurofibromatosis' SubClassOf 'inherited nervous system cancer-predisposing syndrome' http://purl.obolibrary.org/obo/MONDO_0013595 hyperbiliverdinemia 'hyperbiliverdinemia' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_139450 Microtia - eye coloboma - imperforation of the nasolacrimal duct 'Microtia - eye coloboma - imperforation of the nasolacrimal duct' SubClassOf 'developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome 'Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome' SubClassOf 'hereditary neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0859300 Neuronopathy, distal hereditary motor, type X 'Neuronopathy, distal hereditary motor, type X' SubClassOf 'motor neuron disease' 'Neuronopathy, distal hereditary motor, type X' SubClassOf 'autosomal dominant distal hereditary motor neuropathy' http://purl.obolibrary.org/obo/MONDO_0013607 monocytopenia with susceptibility to infections 'monocytopenia with susceptibility to infections' SubClassOf 'quantitative and/or qualitative congenital phagocyte defect' http://purl.obolibrary.org/obo/MONDO_0013626 psoriasis 14, pustular 'psoriasis 14, pustular' SubClassOf 'pyogenic autoinflammatory syndrome' 'psoriasis 14, pustular' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'psoriasis 14, pustular' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0013623 platelet-type bleeding disorder 11 'platelet-type bleeding disorder 11' SubClassOf 'bleeding diathesis due to a collagen receptor defect' 'platelet-type bleeding disorder 11' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0013622 platelet-type bleeding disorder 9 'platelet-type bleeding disorder 9' SubClassOf 'bleeding diathesis due to a collagen receptor defect' 'platelet-type bleeding disorder 9' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0013640 familial retinal arterial macroaneurysm 'familial retinal arterial macroaneurysm' SubClassOf 'inherited vitreous-retinal disease' 'familial retinal arterial macroaneurysm' SubClassOf 'bearer_of' some 'rare' 'familial retinal arterial macroaneurysm' SubClassOf 'genetic disorder' 'familial retinal arterial macroaneurysm' SubClassOf 'retinal vascular disorder' http://purl.obolibrary.org/obo/MONDO_0013659 microcephaly-capillary malformation syndrome 'microcephaly-capillary malformation syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013678 EDICT syndrome 'EDICT syndrome' SubClassOf 'syndromic keratoconus' 'EDICT syndrome' SubClassOf 'syndromic disease' 'EDICT syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013696 chromosome 2p16.3 deletion syndrome 'chromosome 2p16.3 deletion syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013472 fatal infantile hypertonic myofibrillar myopathy 'fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'hypercontractile muscle stiffness syndrome' 'fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0013481 chromosome 13q14 deletion syndrome 'chromosome 13q14 deletion syndrome' SubClassOf 'syndromic epicanthus' 'chromosome 13q14 deletion syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0013512 hemoglobin H disease 'hemoglobin H disease' SubClassOf 'disease has feature' some 'pituitary hormone deficiency secondary to storage disease' http://purl.obolibrary.org/obo/MONDO_0013524 bleeding diathesis due to thromboxane synthesis deficiency 'bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'inherited disease susceptibility' 'bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'isolated constitutional thrombocytopenia' 'bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'inherited bleeding disorder, platelet-type' 'bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency 'hyperlipidemia due to hepatic triglyceride lipase deficiency' SubClassOf 'familial hyperlipidemia' http://purl.obolibrary.org/obo/MONDO_0013540 deafness-lymphedema-leukemia syndrome 'deafness-lymphedema-leukemia syndrome' SubClassOf 'tumor of hematopoietic and lymphoid tissues' 'deafness-lymphedema-leukemia syndrome' SubClassOf 'syndromic lymphedema' 'deafness-lymphedema-leukemia syndrome' SubClassOf 'vascular neoplasm' 'deafness-lymphedema-leukemia syndrome' SubClassOf 'hematologic disease' 'deafness-lymphedema-leukemia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0013551 hereditary spastic paraplegia 47 'hereditary spastic paraplegia 47' SubClassOf 'AP4-related intellectual disability and spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013552 hereditary spastic paraplegia 52 'hereditary spastic paraplegia 52' SubClassOf 'AP4-related intellectual disability and spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013561 chondrodysplasia with joint dislocations, gPAPP type 'chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'sulfation-related bone disorder' 'chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'musculoskeletal system disease' 'chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'inborn errors of metabolism' 'chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'mineral metabolism disease' http://purl.obolibrary.org/obo/MONDO_0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency 'recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'immunodeficiency predominantly affecting antibody production' 'recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0013583 occipital pachygyria and polymicrogyria 'occipital pachygyria and polymicrogyria' SubClassOf 'cerebral malformation' 'occipital pachygyria and polymicrogyria' SubClassOf 'brain disease' 'occipital pachygyria and polymicrogyria' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 'infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome 'intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 'Rubinstein-Taybi syndrome due to EP300 haploinsufficiency' SubClassOf 'dysostosis with brachydactyly with extraskeletal manifestations' http://purl.obolibrary.org/obo/MONDO_0013368 mammary-digital-nail syndrome 'mammary-digital-nail syndrome' SubClassOf 'excess breast volume or number' 'mammary-digital-nail syndrome' SubClassOf 'dysostosis of genetic origin' 'mammary-digital-nail syndrome' SubClassOf 'genetic disorder' 'mammary-digital-nail syndrome' SubClassOf 'dysostosis' 'mammary-digital-nail syndrome' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 'THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013378 orofacial cleft 10 'orofacial cleft 10' SubClassOf 'orofacial cleft' http://purl.obolibrary.org/obo/MONDO_0013396 chromosome 1p32-p31 deletion syndrome 'chromosome 1p32-p31 deletion syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome 'porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 'Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency' SubClassOf '46,XY disorder of sex development of endocrine origin' 'Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'genetic disorder' 'Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0013401 hereditary spastic paraplegia 51 'hereditary spastic paraplegia 51' SubClassOf 'AP4-related intellectual disability and spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013426 aneurysm-osteoarthritis syndrome 'aneurysm-osteoarthritis syndrome' SubClassOf 'overgrowth or tall stature syndrome with skeletal involvement' http://www.ebi.ac.uk/efo/EFO_0008601 pemphigus foliaceus 'pemphigus foliaceus' SubClassOf 'superficial pemphigus' 'pemphigus foliaceus' SubClassOf 'pemphigus' 'pemphigus foliaceus' SubClassOf 'pemphigus' http://www.ebi.ac.uk/efo/EFO_0008603 pemphigus erythematosus 'pemphigus erythematosus' SubClassOf 'superficial pemphigus' 'pemphigus erythematosus' SubClassOf 'pemphigus' 'pemphigus erythematosus' SubClassOf 'pemphigus' http://purl.obolibrary.org/obo/MONDO_0013452 multisystemic smooth muscle dysfunction syndrome 'multisystemic smooth muscle dysfunction syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013239 hereditary spastic paraplegia 41 'hereditary spastic paraplegia 41' SubClassOf 'autosomal dominant pure spastic paraplegia' 'hereditary spastic paraplegia 41' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013245 syndromic multisystem autoimmune disease due to ITCH deficiency 'syndromic multisystem autoimmune disease due to ITCH deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013256 chromosome 15q24 deletion syndrome 'chromosome 15q24 deletion syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013254 microcephaly, seizures, and developmental delay 'microcephaly, seizures, and developmental delay' SubClassOf 'hereditary cerebral malformation' http://purl.obolibrary.org/obo/MONDO_0013252 Warsaw breakage syndrome 'Warsaw breakage syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013267 distal 16p11.2 microdeletion syndrome 'distal 16p11.2 microdeletion syndrome' SubClassOf 'syndromic genetic obesity' http://purl.obolibrary.org/obo/MONDO_0013268 frontonasal dysplasia with alopecia and genital anomaly 'frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'hereditary alopecia' 'frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'dysostosis with predominant craniofacial involvement' 'frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0013276 Reynolds syndrome 'Reynolds syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome 'frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome' SubClassOf 'dysostosis with predominant craniofacial involvement' http://purl.obolibrary.org/obo/MONDO_0013306 combined oxidative phosphorylation defect type 7 'combined oxidative phosphorylation defect type 7' SubClassOf 'c12orf65-related combined oxidative phosphorylation defect' http://purl.obolibrary.org/obo/MONDO_0013300 commissural facial cleft 'commissural facial cleft' SubClassOf 'lateral facial cleft' 'commissural facial cleft' SubClassOf 'facial cleft' http://purl.obolibrary.org/obo/MONDO_0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 'congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'developmental anomaly of metabolic origin' 'congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'hereditary 46,XX disorder of sex development' 'congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf '46,XY disorder of sex development of endocrine origin' 'congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'hereditary 46,XY disorder of sex development' 'congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0013324 lymphedema-posterior choanal atresia syndrome 'lymphedema-posterior choanal atresia syndrome' SubClassOf 'hereditary otorhinolaryngological malformation' 'lymphedema-posterior choanal atresia syndrome' SubClassOf 'head and neck neoplasia' 'lymphedema-posterior choanal atresia syndrome' SubClassOf 'hereditary vascular anomaly' 'lymphedema-posterior choanal atresia syndrome' SubClassOf 'nose and cavum anomaly' 'lymphedema-posterior choanal atresia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013334 cocoon syndrome 'cocoon syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013342 hereditary spastic paraplegia 48 'hereditary spastic paraplegia 48' SubClassOf 'pure or complex autosomal recessive spastic paraplegia' 'hereditary spastic paraplegia 48' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 'acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'acute disease' 'acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf http://purl.obolibrary.org/obo/MONDO_0019542 http://purl.obolibrary.org/obo/MONDO_0013127 asphyxiating thoracic dystrophy 3 'asphyxiating thoracic dystrophy 3' SubClassOf 'syndromic anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0013144 hereditary antithrombin deficiency 'hereditary antithrombin deficiency' SubClassOf 'avascular necrosis of genetic origin' 'hereditary antithrombin deficiency' SubClassOf 'osteonecrosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency 'hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'avascular necrosis of genetic origin' 'hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'osteonecrosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5' SubClassOf 'myopathy caused by variation in FKRP' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5' SubClassOf 'qualitative or quantitative defects of FKRP' http://purl.obolibrary.org/obo/MONDO_0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3' SubClassOf 'congenital muscular dystrophy with cerebellar involvement' http://purl.obolibrary.org/obo/MONDO_0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 'muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4' SubClassOf 'congenital muscular dystrophy without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013150 parkinsonism-dystonia, infantile 'parkinsonism-dystonia, infantile' SubClassOf 'persistent combined dystonia' 'parkinsonism-dystonia, infantile' SubClassOf 'combined dystonia' http://purl.obolibrary.org/obo/MONDO_0013161 autosomal recessive limb-girdle muscular dystrophy type 2O 'autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'disorder of O-mannosylglycan synthesis' http://purl.obolibrary.org/obo/MONDO_0013165 hereditary spastic paraplegia 45 'hereditary spastic paraplegia 45' SubClassOf 'autosomal recessive complex spastic paraplegia' 'hereditary spastic paraplegia 45' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013162 autosomal recessive limb-girdle muscular dystrophy type 2N 'autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'disorder of O-mannosylglycan synthesis' http://purl.obolibrary.org/obo/MONDO_0013179 hereditary spastic paraplegia 44 'hereditary spastic paraplegia 44' SubClassOf 'autosomal recessive complex spastic paraplegia' 'hereditary spastic paraplegia 44' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency 'congenital muscular dystrophy due to integrin alpha-7 deficiency' SubClassOf 'qualitative or quantitative defects of integrin alpha-7' http://purl.obolibrary.org/obo/MONDO_0013176 Weill-Marchesani 4 syndrome, recessive 'Weill-Marchesani 4 syndrome, recessive' SubClassOf 'autosomal ichthyosis syndrome' http://purl.obolibrary.org/obo/MONDO_0013187 factor XIII, A subunit, deficiency of 'factor XIII, A subunit, deficiency of' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0013184 congenital diarrhea 5 with tufting enteropathy 'congenital diarrhea 5 with tufting enteropathy' SubClassOf 'congenital enteropathy involving intestinal mucosa development' 'congenital diarrhea 5 with tufting enteropathy' SubClassOf 'intractable diarrhea of infancy' http://purl.obolibrary.org/obo/MONDO_0013227 congenital plasminogen activator inhibitor type 1 deficiency 'congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0013228 spondylo-megaepiphyseal-metaphyseal dysplasia 'spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'dysostosis with predominant vertebral with and without costal involvement' http://purl.obolibrary.org/obo/MONDO_0013226 combined immunodeficiency with faciooculoskeletal anomalies 'combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf 'combined immunodeficiency' 'combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf 'bearer_of' some 'rare' 'combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf 'inborn error of immunity' http://www.orpha.net/ORDO/Orphanet_94145 Autosomal dominant cerebellar ataxia type 1 'Autosomal dominant cerebellar ataxia type 1' SubClassOf 'hereditary neuro-ophthalmological disease' http://www.orpha.net/ORDO/Orphanet_94149 Autosomal dominant cerebellar ataxia type 4 'Autosomal dominant cerebellar ataxia type 4' SubClassOf 'hereditary neuro-ophthalmological disease' http://www.orpha.net/ORDO/Orphanet_94148 Autosomal dominant cerebellar ataxia type 3 'Autosomal dominant cerebellar ataxia type 3' SubClassOf 'hereditary neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0008509 distal symphalangism 'distal symphalangism' SubClassOf 'joint formation defects' 'distal symphalangism' SubClassOf 'genetic disorder' 'distal symphalangism' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0008504 supravalvular aortic stenosis 'supravalvular aortic stenosis' SubClassOf 'hereditary cardiac anomaly' 'supravalvular aortic stenosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008501 Sturge-Weber syndrome 'Sturge-Weber syndrome' SubClassOf 'disease has feature' some 'neurovascular malformation' 'Sturge-Weber syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008513 synpolydactyly type 1 'synpolydactyly type 1' SubClassOf 'non-syndromic polydactyly' http://purl.obolibrary.org/obo/MONDO_0008511 proximal symphalangism 'proximal symphalangism' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0008510 symphalangism with multiple anomalies of hands and feet 'symphalangism with multiple anomalies of hands and feet' SubClassOf 'dysostosis of genetic origin' 'symphalangism with multiple anomalies of hands and feet' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008523 Blau syndrome 'Blau syndrome' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' http://purl.obolibrary.org/obo/MONDO_0008520 brachydactyly-elbow wrist dysplasia syndrome 'brachydactyly-elbow wrist dysplasia syndrome' SubClassOf 'syndrome with synostosis or other joint formation defect' 'brachydactyly-elbow wrist dysplasia syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008537 telecanthus 'telecanthus' SubClassOf 'canthal anomaly' 'telecanthus' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0008544 tetramelic monodactyly 'tetramelic monodactyly' SubClassOf 'dysostosis of genetic origin' 'tetramelic monodactyly' SubClassOf 'genetic disorder' 'tetramelic monodactyly' SubClassOf 'dysostosis' http://www.orpha.net/ORDO/Orphanet_94122 Cerebellar ataxia, Cayman type 'Cerebellar ataxia, Cayman type' SubClassOf 'hereditary neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0008551 thoracolaryngopelvic dysplasia 'thoracolaryngopelvic dysplasia' SubClassOf 'respiratory malformation' http://purl.obolibrary.org/obo/MONDO_0008572 tibia, hypoplasia or aplasia of, with polydactyly 'tibia, hypoplasia or aplasia of, with polydactyly' SubClassOf 'congenital limb malformation' 'tibia, hypoplasia or aplasia of, with polydactyly' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0008592 tricho-dento-osseous syndrome 'tricho-dento-osseous syndrome' SubClassOf 'primary bone dysplasia with increased bone density' 'tricho-dento-osseous syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008597 trichorhinophalangeal syndrome, type III 'trichorhinophalangeal syndrome, type III' SubClassOf 'trichorhinophalangeal syndrome type I or III' 'trichorhinophalangeal syndrome, type III' SubClassOf 'autosomal dominant disease' 'trichorhinophalangeal syndrome, type III' SubClassOf 'trichorhinophalangeal syndrome' http://purl.obolibrary.org/obo/MONDO_0008596 trichorhinophalangeal syndrome type I 'trichorhinophalangeal syndrome type I' SubClassOf 'trichorhinophalangeal syndrome type I or III' http://www.ebi.ac.uk/efo/EFO_0002939 medulloblastoma 'medulloblastoma' SubClassOf 'embryonal tumor of neuroepithelial tissue' 'medulloblastoma' SubClassOf 'embryonal neoplasm' http://purl.obolibrary.org/obo/MONDO_0008407 neurogenic scapuloperoneal syndrome, Kaeser type 'neurogenic scapuloperoneal syndrome, Kaeser type' SubClassOf 'motor neuron disease' 'neurogenic scapuloperoneal syndrome, Kaeser type' SubClassOf 'hereditary motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0008406 autosomal recessive Emery-Dreifuss muscular dystrophy 'autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf 'autosomal recessive disease' 'autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' 'autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008404 scalp-ear-nipple syndrome 'scalp-ear-nipple syndrome' SubClassOf 'deficient breast volume or number' 'scalp-ear-nipple syndrome' SubClassOf 'hereditary mixed dermis disorder' 'scalp-ear-nipple syndrome' SubClassOf 'mixed dermis disorder' http://purl.obolibrary.org/obo/MONDO_0008403 scalp defects-postaxial polydactyly syndrome 'scalp defects-postaxial polydactyly syndrome' SubClassOf 'hereditary mixed dermis disorder' 'scalp defects-postaxial polydactyly syndrome' SubClassOf 'dysostosis of genetic origin' 'scalp defects-postaxial polydactyly syndrome' SubClassOf 'mixed dermis disorder' 'scalp defects-postaxial polydactyly syndrome' SubClassOf 'skeletal system disease' 'scalp defects-postaxial polydactyly syndrome' SubClassOf 'hereditary skin disorder' 'scalp defects-postaxial polydactyly syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008411 ulnar-mammary syndrome 'ulnar-mammary syndrome' SubClassOf 'non-syndromic limb reduction defect' 'ulnar-mammary syndrome' SubClassOf 'syndromic anorectal malformation' 'ulnar-mammary syndrome' SubClassOf 'deficient breast volume or number' 'ulnar-mammary syndrome' SubClassOf 'syndromic disease' 'ulnar-mammary syndrome' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0008410 Scheuermann disease 'Scheuermann disease' SubClassOf 'osteochondrosis of genetic origin' 'Scheuermann disease' SubClassOf 'osteonecrosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0008429 Singleton-Merten dysplasia 'Singleton-Merten dysplasia' SubClassOf 'type 1 interferonopathy' 'Singleton-Merten dysplasia' SubClassOf 'hereditary disorder of connective tissue' 'Singleton-Merten dysplasia' SubClassOf 'syndromic disease' 'Singleton-Merten dysplasia' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0008438 hereditary spastic paraplegia 4 'hereditary spastic paraplegia 4' SubClassOf 'pure or complex autosomal dominant spastic paraplegia' 'hereditary spastic paraplegia 4' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0008437 hereditary spastic paraplegia 3A 'hereditary spastic paraplegia 3A' SubClassOf 'pure or complex autosomal dominant spastic paraplegia' 'hereditary spastic paraplegia 3A' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0008434 Smith-Magenis syndrome 'Smith-Magenis syndrome' SubClassOf 'syndromic genetic obesity' 'Smith-Magenis syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008457 spinocerebellar ataxia type 6 'spinocerebellar ataxia type 6' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant 'adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'autosomal dominant proximal spinal muscular atrophy' 'adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'spinal muscular atrophy' 'adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'hereditary motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0008451 neuronopathy, distal hereditary motor, type 1 'neuronopathy, distal hereditary motor, type 1' SubClassOf 'neuronopathy, distal hereditary motor' http://purl.obolibrary.org/obo/MONDO_0008460 splenogonadal fusion-limb defects-micrognathia syndrome 'splenogonadal fusion-limb defects-micrognathia syndrome' SubClassOf 'syndromic visceral malformation' 'splenogonadal fusion-limb defects-micrognathia syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'splenogonadal fusion-limb defects-micrognathia syndrome' SubClassOf 'dysostosis of genetic origin' 'splenogonadal fusion-limb defects-micrognathia syndrome' SubClassOf 'dysostosis' 'splenogonadal fusion-limb defects-micrognathia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008467 Czeizel-Losonci syndrome 'Czeizel-Losonci syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Czeizel-Losonci syndrome' SubClassOf 'syndromic disease' 'Czeizel-Losonci syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008466 Karsch-Neugebauer syndrome 'Karsch-Neugebauer syndrome' SubClassOf 'dysostosis of genetic origin' 'Karsch-Neugebauer syndrome' SubClassOf 'dysostosis' 'Karsch-Neugebauer syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008465 Patterson-Stevenson-Fontaine syndrome 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'branchial arch or oral-acral syndrome' http://purl.obolibrary.org/obo/MONDO_0008485 sebocystomatosis 'sebocystomatosis' SubClassOf 'sebaceous gland anomaly' 'sebocystomatosis' SubClassOf 'sebaceous gland disease' 'sebocystomatosis' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0008492 stiff skin syndrome 'stiff skin syndrome' SubClassOf 'skin disease' 'stiff skin syndrome' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf 'type 11 collagen-related bone disorder' 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf 'hereditary otorhinolaryngologic disease' 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf 'hereditary syndromic Pierre Robin syndrome' http://purl.obolibrary.org/obo/MONDO_0008305 Currarino triad 'Currarino triad' SubClassOf 'dysostosis with predominant vertebral with and without costal involvement' 'Currarino triad' SubClassOf 'syndromic anorectal malformation' 'Currarino triad' SubClassOf 'syndromic uterovaginal malformation' 'Currarino triad' SubClassOf 'dysostosis' 'Currarino triad' SubClassOf 'syndromic disease' 'Currarino triad' SubClassOf 'reproductive system disease' 'Currarino triad' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008301 Guttmacher syndrome 'Guttmacher syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Guttmacher syndrome' SubClassOf 'genetic disorder' 'Guttmacher syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008300 Prader-Willi syndrome 'Prader-Willi syndrome' SubClassOf 'syndromic genetic obesity' 'Prader-Willi syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008318 Proteus syndrome 'Proteus syndrome' SubClassOf 'overgrowth or tall stature syndrome with skeletal involvement' 'Proteus syndrome' SubClassOf 'hereditary vascular anomaly' 'Proteus syndrome' SubClassOf 'skeletal dysplasia' 'Proteus syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008322 pseudoachondroplasia 'pseudoachondroplasia' SubClassOf 'multiple epiphyseal dysplasia and pseudoachondroplasia' 'pseudoachondroplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008347 idiopathic and/or familial pulmonary arterial hypertension 'idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'primary pulmonary hypertension' 'idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'pulmonary arterial hypertension' 'idiopathic and/or familial pulmonary arterial hypertension' SubClassOf 'idiopathic disease' 'idiopathic and/or familial pulmonary arterial hypertension' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008341 ptosis-strabismus-ectopic pupils syndrome 'ptosis-strabismus-ectopic pupils syndrome' SubClassOf 'eyelids malposition disorder' 'ptosis-strabismus-ectopic pupils syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008340 ptosis, hereditary congenital, 1 'ptosis, hereditary congenital, 1' SubClassOf 'eyelids malposition disorder' 'ptosis, hereditary congenital, 1' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008359 radio-renal syndrome 'radio-renal syndrome' SubClassOf 'dysostosis of genetic origin' 'radio-renal syndrome' SubClassOf 'genetic disorder' 'radio-renal syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0008369 proximal renal tubular acidosis 'proximal renal tubular acidosis' SubClassOf 'primary renal tubular acidosis' 'proximal renal tubular acidosis' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0008373 retinal arterial tortuosity 'retinal arterial tortuosity' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008388 ringed hair disease 'ringed hair disease' SubClassOf 'isolated genetic hair shaft abnormality' 'ringed hair disease' SubClassOf 'hair anomaly' http://purl.obolibrary.org/obo/MONDO_0008387 ring dermoid of cornea 'ring dermoid of cornea' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008393 Rubinstein-Taybi syndrome due to CREBBP mutations 'Rubinstein-Taybi syndrome due to CREBBP mutations' SubClassOf 'dysostosis with brachydactyly with extraskeletal manifestations' http://purl.obolibrary.org/obo/MONDO_0008392 Roussy-Levy syndrome 'Roussy-Levy syndrome' SubClassOf 'autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Roussy-Levy syndrome' SubClassOf 'genetic disorder' 'Roussy-Levy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008390 Rombo syndrome 'Rombo syndrome' SubClassOf 'inherited skin tumor' 'Rombo syndrome' SubClassOf 'genetic disorder' 'Rombo syndrome' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0008397 aplasia of lacrimal and salivary glands 'aplasia of lacrimal and salivary glands' SubClassOf 'excretory apparatus of the lacrimal system anomaly' 'aplasia of lacrimal and salivary glands' SubClassOf 'genetic disorder' 'aplasia of lacrimal and salivary glands' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008396 oculodental syndrome, Rutherfurd type 'oculodental syndrome, Rutherfurd type' SubClassOf 'syndromic corneal dystrophy' 'oculodental syndrome, Rutherfurd type' SubClassOf 'bearer_of' some 'rare' 'oculodental syndrome, Rutherfurd type' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008209 Char syndrome 'Char syndrome' SubClassOf 'eyelids malposition disorder' 'Char syndrome' SubClassOf 'familial patent arterial duct' 'Char syndrome' SubClassOf 'congenital heart disease' 'Char syndrome' SubClassOf 'vascular disease' 'Char syndrome' SubClassOf 'genetic disorder' 'Char syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008207 chondromalacia patellae 'chondromalacia patellae' SubClassOf 'patellar dysostosis' 'chondromalacia patellae' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008205 patella aplasia/hypoplasia 'patella aplasia/hypoplasia' SubClassOf 'patellar dysostosis' 'patella aplasia/hypoplasia' SubClassOf 'non-syndromic limb malformation' 'patella aplasia/hypoplasia' SubClassOf 'genetic disorder' 'patella aplasia/hypoplasia' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0008201 Perry syndrome 'Perry syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008218 Hailey-Hailey disease 'Hailey-Hailey disease' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0008217 pelvis-shoulder dysplasia 'pelvis-shoulder dysplasia' SubClassOf 'non-syndromic limb reduction defect' 'pelvis-shoulder dysplasia' SubClassOf 'congenital limb malformation' 'pelvis-shoulder dysplasia' SubClassOf 'non-syndromic limb reduction defect' 'pelvis-shoulder dysplasia' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0008222 Andersen-Tawil syndrome 'Andersen-Tawil syndrome' SubClassOf 'syndromic disease' 'Andersen-Tawil syndrome' SubClassOf 'periodic paralysis' 'Andersen-Tawil syndrome' SubClassOf 'disease has feature' some 'torsades de pointes' 'Andersen-Tawil syndrome' SubClassOf 'congenital heart disease' 'Andersen-Tawil syndrome' SubClassOf 'familial periodic paralysis' 'Andersen-Tawil syndrome' SubClassOf 'familial long QT syndrome' http://purl.obolibrary.org/obo/MONDO_0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome 'phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf 'dysostosis of genetic origin' 'phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf 'genetic disorder' 'phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0008251 familial pityriasis rubra pilaris 'familial pityriasis rubra pilaris' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0008259 familial spontaneous pneumothorax 'familial spontaneous pneumothorax' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008262 Poland syndrome 'Poland syndrome' SubClassOf 'congenital limb malformation' 'Poland syndrome' SubClassOf 'hereditary skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0008269 polydactyly of a biphalangeal thumb 'polydactyly of a biphalangeal thumb' SubClassOf 'non-syndromic synpolydactyly' http://purl.obolibrary.org/obo/MONDO_0008265 polycystic liver disease 1 'polycystic liver disease 1' SubClassOf 'hereditary biliary tract disease' http://purl.obolibrary.org/obo/MONDO_0008272 polysyndactyly 4 'polysyndactyly 4' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0008271 polydactyly of an index finger 'polydactyly of an index finger' SubClassOf 'non-syndromic synpolydactyly' http://purl.obolibrary.org/obo/MONDO_0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 'juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome' SubClassOf 'hereditary intestinal polyposis' http://purl.obolibrary.org/obo/MONDO_0008280 Peutz-Jeghers syndrome 'Peutz-Jeghers syndrome' SubClassOf 'disease has feature' some 'pigmented conjunctival lesion' 'Peutz-Jeghers syndrome' SubClassOf 'intestinal neoplasm' 'Peutz-Jeghers syndrome' SubClassOf 'inherited digestive tract tumor' 'Peutz-Jeghers syndrome' SubClassOf 'hereditary intestinal polyposis' 'Peutz-Jeghers syndrome' SubClassOf 'disease has feature' some 'palpebral lentiginosis' http://purl.obolibrary.org/obo/MONDO_0008292 punctate palmoplantar keratoderma type 2 'punctate palmoplantar keratoderma type 2' SubClassOf 'isolated punctate palmoplantar keratoderma' 'punctate palmoplantar keratoderma type 2' SubClassOf 'punctate palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0008291 porokeratosis plantaris palmaris et disseminata 'porokeratosis plantaris palmaris et disseminata' SubClassOf 'isolated punctate palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0008298 postaxial tetramelic oligodactyly 'postaxial tetramelic oligodactyly' SubClassOf 'dysostosis of genetic origin' 'postaxial tetramelic oligodactyly' SubClassOf 'genetic disorder' 'postaxial tetramelic oligodactyly' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0008116 oculopharyngeal muscular dystrophy 'oculopharyngeal muscular dystrophy' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0008115 Feingold syndrome type 1 'Feingold syndrome type 1' SubClassOf 'dysostosis with brachydactyly with extraskeletal manifestations' http://purl.obolibrary.org/obo/MONDO_0008113 Schilbach-Rott syndrome 'Schilbach-Rott syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Schilbach-Rott syndrome' SubClassOf 'syndromic disease' 'Schilbach-Rott syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008111 oculodentodigital dysplasia 'oculodentodigital dysplasia' SubClassOf 'primary bone dysplasia with increased bone density' 'oculodentodigital dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008139 OSLAM syndrome 'OSLAM syndrome' SubClassOf 'dysostosis of genetic origin' 'OSLAM syndrome' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0008138 syndromic orbital border hypoplasia 'syndromic orbital border hypoplasia' SubClassOf 'excretory apparatus of the lacrimal system anomaly' 'syndromic orbital border hypoplasia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008136 isolated optic nerve hypoplasia 'isolated optic nerve hypoplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008145 Ollier disease 'Ollier disease' SubClassOf 'primary bone dysplasia with disorganized development of skeletal components' 'Ollier disease' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008142 Thiemann disease, familial form 'Thiemann disease, familial form' SubClassOf 'osteochondrosis of genetic origin' 'Thiemann disease, familial form' SubClassOf 'osteonecrosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0008150 osteoglophonic dwarfism 'osteoglophonic dwarfism' SubClassOf 'primary bone dysplasia with disorganized development of skeletal components' 'osteoglophonic dwarfism' SubClassOf 'musculoskeletal system disease' 'osteoglophonic dwarfism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008157 Buschke-Ollendorff syndrome 'Buschke-Ollendorff syndrome' SubClassOf 'primary bone dysplasia with increased bone density' 'Buschke-Ollendorff syndrome' SubClassOf 'skeletal system disease' 'Buschke-Ollendorff syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008153 progressive osseous heteroplasia 'progressive osseous heteroplasia' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0008163 otofaciocervical syndrome 'otofaciocervical syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'otofaciocervical syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0008165 southeast Asian ovalocytosis 'southeast Asian ovalocytosis' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0008179 paroxysmal extreme pain disorder 'paroxysmal extreme pain disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008183 annular pancreas 'annular pancreas' SubClassOf 'non-syndromic visceral malformation' 'annular pancreas' SubClassOf 'pancreas disease' http://purl.obolibrary.org/obo/MONDO_0008182 nasopalpebral lipoma-coloboma syndrome 'nasopalpebral lipoma-coloboma syndrome' SubClassOf 'syndromic palpebral coloboma' 'nasopalpebral lipoma-coloboma syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008195 paramyotonia congenita of Von Eulenburg 'paramyotonia congenita of Von Eulenburg' SubClassOf 'hereditary skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0008198 parietal foramina with cleidocranial dysplasia 'parietal foramina with cleidocranial dysplasia' SubClassOf 'cranial malformation' http://purl.obolibrary.org/obo/UBERON_0000165 mouth 'mouth' SubClassOf 'part of' some 'head' http://purl.obolibrary.org/obo/MONDO_0008009 monilethrix 'monilethrix' SubClassOf 'isolated genetic hair shaft abnormality' 'monilethrix' SubClassOf 'hereditary epidermal appendage anomaly' 'monilethrix' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0008008 MOMO syndrome 'MOMO syndrome' SubClassOf 'syndromic genetic obesity' 'MOMO syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008006 Mobius syndrome 'Mobius syndrome' SubClassOf 'paralytic facial malformation' 'Mobius syndrome' SubClassOf 'cranial nerve and nuclear aplasia' 'Mobius syndrome' SubClassOf 'branchial arch or oral-acral syndrome' http://purl.obolibrary.org/obo/MONDO_0008004 familial mitral valve prolapse 'familial mitral valve prolapse' SubClassOf 'hereditary cardiac anomaly' http://purl.obolibrary.org/obo/MONDO_0008003 autosomal dominant progressive external ophthalmoplegia 'autosomal dominant progressive external ophthalmoplegia' SubClassOf 'multiple mitochondrial DNA deletion syndrome' http://purl.obolibrary.org/obo/MONDO_0008019 mullerian aplasia and hyperandrogenism 'mullerian aplasia and hyperandrogenism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome 'muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008056 myotonic dystrophy type 1 'myotonic dystrophy type 1' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0008061 nail-patella syndrome 'nail-patella syndrome' SubClassOf 'patellar dysostosis' 'nail-patella syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0008075 schwannomatosis 'schwannomatosis' SubClassOf 'inherited skin tumor' 'schwannomatosis' SubClassOf 'hereditary skin disorder' 'schwannomatosis' SubClassOf 'skin neoplasm' http://purl.obolibrary.org/obo/MONDO_0008087 hereditary neuropathy with liability to pressure palsies 'hereditary neuropathy with liability to pressure palsies' SubClassOf 'autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'hereditary neuropathy with liability to pressure palsies' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0008097 linear nevus sebaceous syndrome 'linear nevus sebaceous syndrome' SubClassOf 'Benign Conjunctival Neoplasm' 'linear nevus sebaceous syndrome' SubClassOf 'bulbar conjunctival dermoid or conjunctival dermolipoma' 'linear nevus sebaceous syndrome' SubClassOf 'inherited skin tumor' 'linear nevus sebaceous syndrome' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0008094 familial multiple nevi flammei 'familial multiple nevi flammei' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0008093 nevus, epidermal 'nevus, epidermal' SubClassOf 'inherited skin tumor' 'nevus, epidermal' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0008092 hereditary neutrophilia 'hereditary neutrophilia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008090 cyclic hematopoiesis 'cyclic hematopoiesis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008098 mesomelic dwarfism, Nievergelt type 'mesomelic dwarfism, Nievergelt type' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'mesomelic dwarfism, Nievergelt type' SubClassOf 'skeletal dysplasia' 'mesomelic dwarfism, Nievergelt type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023599 http://purl.obolibrary.org/obo/MONDO_0018701 congenital nemaline myopathy 'congenital nemaline myopathy' SubClassOf 'congenital myopathy' 'congenital nemaline myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018720 common cystic lymphatic malformation 'common cystic lymphatic malformation' SubClassOf 'lymphangioma' http://purl.obolibrary.org/obo/MONDO_0018731 lethal multiple congenital anomalies/dysmorphic syndrome 'lethal multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0018743 immune-mediated acquired neuromuscular junction disease 'immune-mediated acquired neuromuscular junction disease' SubClassOf 'acquired neuromuscular junction disease' 'immune-mediated acquired neuromuscular junction disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018745 superficial pemphigus 'superficial pemphigus' SubClassOf 'autoimmune bullous skin disease' http://purl.obolibrary.org/obo/MONDO_0004111 refractory hematologic cancer 'refractory hematologic cancer' SubClassOf 'hematopoietic and lymphoid cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0018758 familial patent arterial duct 'familial patent arterial duct' SubClassOf 'hereditary cardiac anomaly' 'familial patent arterial duct' SubClassOf 'arterial duct anomaly' 'familial patent arterial duct' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018764 microcephalic primordial dwarfism due to RTTN deficiency 'microcephalic primordial dwarfism due to RTTN deficiency' SubClassOf 'microcephalic primordial dwarfism' 'microcephalic primordial dwarfism due to RTTN deficiency' SubClassOf 'primordial dwarfism and slender bone disorder' 'microcephalic primordial dwarfism due to RTTN deficiency' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018779 hypercontractile muscle stiffness syndrome 'hypercontractile muscle stiffness syndrome' SubClassOf 'alpha-crystallinopathy' http://purl.obolibrary.org/obo/MONDO_0018775 axonal hereditary motor and sensory neuropathy 'axonal hereditary motor and sensory neuropathy' SubClassOf 'Charcot-Marie-Tooth disease' 'axonal hereditary motor and sensory neuropathy' SubClassOf 'hereditary motor and sensory neuropathy' 'axonal hereditary motor and sensory neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018771 congenital anomaly of ventricular septum 'congenital anomaly of ventricular septum' SubClassOf 'bearer_of' some 'congenital' 'congenital anomaly of ventricular septum' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome 'Jeune syndrome' SubClassOf 'nephropathy-associated ciliopathy' 'Jeune syndrome' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_0018788 COL4A1 or COL4A2-related cerebral small vessel disease 'COL4A1 or COL4A2-related cerebral small vessel disease' SubClassOf 'cerebrovascular disorder' 'COL4A1 or COL4A2-related cerebral small vessel disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018786 pontine autosomal dominant microangiopathy with leukoencephalopathy 'pontine autosomal dominant microangiopathy with leukoencephalopathy' SubClassOf 'cerebrovascular disorder' 'pontine autosomal dominant microangiopathy with leukoencephalopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018782 type 1 interferonopathy 'type 1 interferonopathy' SubClassOf 'autoinflammatory syndrome' 'type 1 interferonopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018781 KID syndrome 'KID syndrome' SubClassOf 'autosomal ichthyosis syndrome' http://purl.obolibrary.org/obo/MONDO_0018796 isolated constitutional thrombocytopenia 'isolated constitutional thrombocytopenia' SubClassOf 'inherited thrombocytopenia' 'isolated constitutional thrombocytopenia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018791 Moyomoya angiopathy 'Moyomoya angiopathy' SubClassOf 'bearer_of' some 'rare' 'Moyomoya angiopathy' SubClassOf 'cerebrovascular disorder' 'Moyomoya angiopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018637 familial chylomicronemia syndrome 'familial chylomicronemia syndrome' SubClassOf 'major hypertriglyceridemia' 'familial chylomicronemia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018639 caudal regression-sirenomelia spectrum 'caudal regression-sirenomelia spectrum' SubClassOf 'syndromic urogenital tract malformation' 'caudal regression-sirenomelia spectrum' SubClassOf 'syndromic anorectal malformation' 'caudal regression-sirenomelia spectrum' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018630 hereditary nonpolyposis colon cancer 'hereditary nonpolyposis colon cancer' SubClassOf 'inherited digestive cancer-predisposing syndrome' 'hereditary nonpolyposis colon cancer' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0018677 visceral heterotaxy 'visceral heterotaxy' SubClassOf 'heart position anomaly' 'visceral heterotaxy' SubClassOf 'hereditary cardiac anomaly' 'visceral heterotaxy' SubClassOf 'congenital heart malformation' 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 'Mendelian neurodevelopmental disorder' 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf 'dysostosis of genetic origin' 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0018698 hereditary neuroendocrine tumor of small intestine 'hereditary neuroendocrine tumor of small intestine' SubClassOf 'inherited neuroendocrine tumor' 'hereditary neuroendocrine tumor of small intestine' SubClassOf 'inherited digestive tract tumor' 'hereditary neuroendocrine tumor of small intestine' SubClassOf 'inherited digestive cancer-predisposing syndrome' 'hereditary neuroendocrine tumor of small intestine' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018507 microcephaly-complex motor and sensory axonal neuropathy syndrome 'microcephaly-complex motor and sensory axonal neuropathy syndrome' SubClassOf 'axonal hereditary motor and sensory neuropathy' 'microcephaly-complex motor and sensory axonal neuropathy syndrome' SubClassOf 'nervous system disease' 'microcephaly-complex motor and sensory axonal neuropathy syndrome' SubClassOf 'syndromic disease' 'microcephaly-complex motor and sensory axonal neuropathy syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018502 hereditary gastric cancer 'hereditary gastric cancer' SubClassOf 'inherited digestive tract tumor' 'hereditary gastric cancer' SubClassOf 'genetic disorder' 'hereditary gastric cancer' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018529 qualitative or quantitative defects of Torsin-1A-interacting protein 1 'qualitative or quantitative defects of Torsin-1A-interacting protein 1' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0018538 inherited digestive cancer-predisposing syndrome 'inherited digestive cancer-predisposing syndrome' SubClassOf 'disease has feature' some 'digestive system cancer' 'inherited digestive cancer-predisposing syndrome' SubClassOf 'hereditary neoplastic syndrome' 'inherited digestive cancer-predisposing syndrome' EquivalentTo 'hereditary neoplastic syndrome' and ('disease has feature' some 'digestive system cancer') http://purl.obolibrary.org/obo/MONDO_0018532 adenocarcinoma of liver and intrahepatic biliary tract 'adenocarcinoma of liver and intrahepatic biliary tract' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' 'adenocarcinoma of liver and intrahepatic biliary tract' EquivalentTo 'liver and intrahepatic bile duct neoplasm' and 'adenocarcinoma' 'adenocarcinoma of liver and intrahepatic biliary tract' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0018542 severe congenital neutropenia 'severe congenital neutropenia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018550 spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder 'spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' SubClassOf 'autosomal recessive complex spastic paraplegia' 'spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' SubClassOf 'hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0018563 adactyly of foot 'adactyly of foot' SubClassOf 'non-syndromic terminal limb defects' 'adactyly of foot' SubClassOf 'skeletal dysplasia' 'adactyly of foot' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly 'congenital urachal anomaly' SubClassOf 'non-syndromic renal or urinary tract malformation' 'congenital urachal anomaly' SubClassOf 'urinary system disease' http://purl.obolibrary.org/obo/MONDO_0018562 hereditary otorhinolaryngological malformation 'hereditary otorhinolaryngological malformation' SubClassOf 'hereditary otorhinolaryngologic disease' 'hereditary otorhinolaryngological malformation' SubClassOf 'hereditary head and neck malformation' http://purl.obolibrary.org/obo/MONDO_0018561 precocious puberty in female 'precocious puberty in female' SubClassOf 'anomaly of puberty or/and menstrual cycle' http://purl.obolibrary.org/obo/MONDO_0018580 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome' SubClassOf 'syndromic intellectual disability' 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018579 disorder of ketone body transport 'disorder of ketone body transport' SubClassOf 'disorder of fatty acid and ketone body metabolism' http://purl.obolibrary.org/obo/MONDO_0018575 microcephalic primordial dwarfism-insulin resistance syndrome 'microcephalic primordial dwarfism-insulin resistance syndrome' SubClassOf 'inherited primary ovarian failure' 'microcephalic primordial dwarfism-insulin resistance syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018574 intellectual disability-expressive aphasia-facial dysmorphism syndrome 'intellectual disability-expressive aphasia-facial dysmorphism syndrome' SubClassOf 'bearer_of' some 'rare' 'intellectual disability-expressive aphasia-facial dysmorphism syndrome' SubClassOf 'syndromic disease' 'intellectual disability-expressive aphasia-facial dysmorphism syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018418 autosomal recessive spastic paraplegia type 66 'autosomal recessive spastic paraplegia type 66' SubClassOf 'autosomal recessive complex spastic paraplegia' 'autosomal recessive spastic paraplegia type 66' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018417 autosomal recessive spastic paraplegia type 60 'autosomal recessive spastic paraplegia type 60' SubClassOf 'autosomal recessive complex spastic paraplegia' 'autosomal recessive spastic paraplegia type 60' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018419 autosomal recessive spastic paraplegia type 67 'autosomal recessive spastic paraplegia type 67' SubClassOf 'autosomal recessive complex spastic paraplegia' 'autosomal recessive spastic paraplegia type 67' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018416 autosomal recessive spastic paraplegia type 59 'autosomal recessive spastic paraplegia type 59' SubClassOf 'autosomal recessive complex spastic paraplegia' 'autosomal recessive spastic paraplegia type 59' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018421 autosomal recessive spastic paraplegia type 69 'autosomal recessive spastic paraplegia type 69' SubClassOf 'autosomal recessive complex spastic paraplegia' 'autosomal recessive spastic paraplegia type 69' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018420 autosomal recessive spastic paraplegia type 68 'autosomal recessive spastic paraplegia type 68' SubClassOf 'autosomal recessive complex spastic paraplegia' 'autosomal recessive spastic paraplegia type 68' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018423 autosomal recessive spastic paraplegia type 71 'autosomal recessive spastic paraplegia type 71' SubClassOf 'autosomal recessive pure spastic paraplegia' 'autosomal recessive spastic paraplegia type 71' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018422 autosomal recessive spastic paraplegia type 70 'autosomal recessive spastic paraplegia type 70' SubClassOf 'autosomal recessive complex spastic paraplegia' 'autosomal recessive spastic paraplegia type 70' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018430 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' 'partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 'global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome' SubClassOf 'inherited renal cancer-predisposing syndrome' 'global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin 'dysostosis of genetic origin' SubClassOf 'genetic disorder' 'dysostosis of genetic origin' EquivalentTo 'dysostosis' and ('bearer_of' some 'inherited') 'dysostosis of genetic origin' SubClassOf 'dysostosis' 'dysostosis of genetic origin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018453 familial atypical multiple mole melanoma syndrome 'familial atypical multiple mole melanoma syndrome' SubClassOf 'inherited skin tumor' 'familial atypical multiple mole melanoma syndrome' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0018450 spinal muscular atrophy with respiratory distress type 2 'spinal muscular atrophy with respiratory distress type 2' SubClassOf 'X-linked distal hereditary motor neuropathy' 'spinal muscular atrophy with respiratory distress type 2' SubClassOf 'spinal muscular atrophy' 'spinal muscular atrophy with respiratory distress type 2' SubClassOf 'hereditary motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0018451 X-linked distal hereditary motor neuropathy 'X-linked distal hereditary motor neuropathy' SubClassOf 'X-linked disease' 'X-linked distal hereditary motor neuropathy' SubClassOf 'distal hereditary motor neuropathy' 'X-linked distal hereditary motor neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis 'renal agenesis' SubClassOf 'non-syndromic renal or urinary tract malformation' 'renal agenesis' SubClassOf 'disorder of development or morphogenesis' 'renal agenesis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018492 hereditary clear cell renal cell carcinoma 'hereditary clear cell renal cell carcinoma' SubClassOf 'inherited renal cancer-predisposing syndrome' http://purl.obolibrary.org/obo/MONDO_0018496 ARX-related encephalopathy-brain malformation spectrum 'ARX-related encephalopathy-brain malformation spectrum' SubClassOf 'syndromic disease' http://www.orpha.net/ORDO/Orphanet_363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 'Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome' SubClassOf 'hereditary neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008913 cardiac valvular defect, developmental 'cardiac valvular defect, developmental' SubClassOf 'hereditary cardiac anomaly' 'cardiac valvular defect, developmental' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0008926 COFS syndrome 'COFS syndrome' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0008924 congenital cataract-ichthyosis syndrome 'congenital cataract-ichthyosis syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'congenital cataract-ichthyosis syndrome' SubClassOf 'syndromic disease' 'congenital cataract-ichthyosis syndrome' SubClassOf 'inherited ichthyosis' http://purl.obolibrary.org/obo/MONDO_0008939 isolated cerebellar hypoplasia/agenesis 'isolated cerebellar hypoplasia/agenesis' SubClassOf 'global cerebellar malformation' 'isolated cerebellar hypoplasia/agenesis' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0008966 Aagenaes syndrome 'Aagenaes syndrome' SubClassOf 'syndromic lymphedema' 'Aagenaes syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008965 CHARGE syndrome 'CHARGE syndrome' SubClassOf 'syndromic urogenital tract malformation' 'CHARGE syndrome' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'CHARGE syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008964 congenital secretory chloride diarrhea 1 'congenital secretory chloride diarrhea 1' SubClassOf 'congenital intestinal transport defect' http://purl.obolibrary.org/obo/MONDO_0008963 Chediak-Higashi syndrome 'Chediak-Higashi syndrome' SubClassOf 'eye degenerative disorder' 'Chediak-Higashi syndrome' SubClassOf 'dense granule disease' http://purl.obolibrary.org/obo/MONDO_0008962 Griscelli syndrome type 1 'Griscelli syndrome type 1' SubClassOf 'brain inflammatory disease' 'Griscelli syndrome type 1' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome 'Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome' SubClassOf 'autosomal recessive hereditary demyelinating motor and sensory neuropathy' 'Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome' SubClassOf 'syndromic disease' 'Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome' SubClassOf 'genetic disorder' 'Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0033947 hereditary angioedema with normal C1Inh 'hereditary angioedema with C1Inh deficiency' DisjointWith 'hereditary angioedema with normal C1Inh' 'hereditary angioedema with normal C1Inh' SubClassOf 'hereditary angioedema' 'hereditary angioedema with normal C1Inh' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0033946 hereditary angioedema with C1Inh deficiency 'hereditary angioedema with C1Inh deficiency' DisjointWith 'hereditary angioedema with normal C1Inh' http://www.ebi.ac.uk/efo/EFO_0002612 human herpesvirus 8 infection 'human herpesvirus 8 infection' SubClassOf 'Herpesviridae infectious disease' 'human herpesvirus 8 infection' SubClassOf 'primary viral infectious disease' http://purl.obolibrary.org/obo/MONDO_0008999 Cohen syndrome 'Cohen syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'Cohen syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'Cohen syndrome' SubClassOf 'syndromic genetic obesity' 'Cohen syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018318 disorder of asparagine metabolism 'disorder of asparagine metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'disorder of asparagine metabolism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome 'growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'hereditary parenchymatous liver disease' 'growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'syndromic disease' 'growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'bearer_of' some 'rare' 'growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'digestive system disease' 'growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018316 fatal post-viral neurodegenerative disorder 'fatal post-viral neurodegenerative disorder' SubClassOf 'brain inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0018329 persistent combined dystonia 'persistent combined dystonia' SubClassOf 'combined dystonia' 'persistent combined dystonia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018337 severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency 'severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' SubClassOf 'mitochondrial disease' 'severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018339 PrP systemic amyloidosis 'PrP systemic amyloidosis' SubClassOf 'inherited prion disease' 'PrP systemic amyloidosis' SubClassOf 'autosomal dominant hereditary sensory and autonomic neuropathy' 'PrP systemic amyloidosis' SubClassOf 'genetic disorder' 'PrP systemic amyloidosis' SubClassOf 'prion disease' http://purl.obolibrary.org/obo/MONDO_0018346 ferro-cerebro-cutaneous syndrome 'ferro-cerebro-cutaneous syndrome' SubClassOf 'hereditary parenchymatous liver disease' 'ferro-cerebro-cutaneous syndrome' SubClassOf 'syndromic disease' 'ferro-cerebro-cutaneous syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018340 hereditary isolated aplastic anemia 'hereditary isolated aplastic anemia' SubClassOf 'inherited aplastic anemia' 'hereditary isolated aplastic anemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018354 Prader-Willi-like syndrome 'Prader-Willi-like syndrome' SubClassOf 'syndromic genetic obesity' http://purl.obolibrary.org/obo/MONDO_0018371 nebulin-related early-onset distal myopathy 'nebulin-related early-onset distal myopathy' SubClassOf 'autosomal recessive distal myopathy' 'nebulin-related early-onset distal myopathy' SubClassOf 'distal myopathy' http://purl.obolibrary.org/obo/MONDO_0018393 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' 'male infertility with azoospermia or oligozoospermia due to single gene mutation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018384 avascular necrosis of genetic origin 'avascular necrosis of genetic origin' EquivalentTo 'avascular necrosis' and ('bearer_of' some 'inherited') 'avascular necrosis of genetic origin' SubClassOf 'avascular necrosis' 'avascular necrosis of genetic origin' SubClassOf 'osteonecrosis of genetic origin' 'avascular necrosis of genetic origin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018385 osteochondrosis of genetic origin 'osteochondrosis of genetic origin' SubClassOf 'osteonecrosis of genetic origin' 'osteochondrosis of genetic origin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome 'Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome' SubClassOf 'dysostosis of genetic origin' 'Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome' SubClassOf 'genetic disorder' 'Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome 'aplasia cutis congenita-intestinal lymphangiectasia syndrome' SubClassOf 'syndromic lymphedema' 'aplasia cutis congenita-intestinal lymphangiectasia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008813 arachnoid cyst 'arachnoid cyst' SubClassOf 'central nervous system cystic malformation' 'arachnoid cyst' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0008810 familial apolipoprotein C-II deficiency 'familial apolipoprotein C-II deficiency' SubClassOf 'syndromic dyslipidemia' http://purl.obolibrary.org/obo/MONDO_0008818 arterial tortuosity syndrome 'arterial tortuosity syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008827 progressive pseudorheumatoid arthropathy of childhood 'progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'hereditary inflammatory or rheumatoid-like osteoarthropathy' http://purl.obolibrary.org/obo/MONDO_0008824 fetal akinesia deformation sequence 'fetal akinesia deformation sequence' SubClassOf 'syndromic respiratory or mediastinal malformation' 'fetal akinesia deformation sequence' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008847 atrichia with papular lesions 'atrichia with papular lesions' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008840 ataxia telangiectasia 'ataxia telangiectasia' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'ataxia telangiectasia' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0008853 Barber-Say syndrome 'Barber-Say syndrome' SubClassOf 'secondary ectropion' 'Barber-Say syndrome' SubClassOf 'microblepharon-ablephara syndrome' http://purl.obolibrary.org/obo/MONDO_0008867 biliary atresia 'biliary atresia' SubClassOf 'non-syndromic visceral malformation' http://purl.obolibrary.org/obo/MONDO_0008878 bone dysplasia, lethal Holmgren type 'bone dysplasia, lethal Holmgren type' SubClassOf 'lethal chondrodysplasia' 'bone dysplasia, lethal Holmgren type' SubClassOf 'osteochondrodysplasia' 'bone dysplasia, lethal Holmgren type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008876 Bloom syndrome 'Bloom syndrome' SubClassOf 'tumor of hematopoietic and lymphoid tissues' 'Bloom syndrome' SubClassOf 'inherited skin tumor' 'Bloom syndrome' SubClassOf 'syndromic disease' 'Bloom syndrome' SubClassOf 'chromosomal disorder' 'Bloom syndrome' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome 'blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome' SubClassOf 'eyelids malposition disorder' 'blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008872 microcephalic osteodysplastic primordial dwarfism type II 'microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'hereditary cerebral malformation' 'microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'microcephalic primordial dwarfism' 'microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'congenital nervous system disorder' 'microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'syndromic genetic obesity' http://purl.obolibrary.org/obo/MONDO_0008870 bird headed-dwarfism, Montreal type 'bird headed-dwarfism, Montreal type' SubClassOf 'microcephalic primordial dwarfism' 'bird headed-dwarfism, Montreal type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'bird headed-dwarfism, Montreal type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008885 Elsahy-Waters syndrome 'Elsahy-Waters syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Elsahy-Waters syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0002517 pancreatic ductal adenocarcinoma 'pancreatic ductal adenocarcinoma' SubClassOf 'pancreatic adenocarcinoma' 'pancreatic ductal adenocarcinoma' SubClassOf 'has_disease_location' some 'pancreas' 'pancreatic ductal adenocarcinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008899 camptodactyly syndrome, Guadalajara type 2 'camptodactyly syndrome, Guadalajara type 2' SubClassOf 'dysostosis of genetic origin' 'camptodactyly syndrome, Guadalajara type 2' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0008896 campomelia, Cumming type 'campomelia, Cumming type' SubClassOf 'syndromic lymphedema' 'campomelia, Cumming type' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008895 hereditary arterial and articular multiple calcification syndrome 'hereditary arterial and articular multiple calcification syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018213 hereditary sensory and autonomic neuropathy type 1 'hereditary sensory and autonomic neuropathy type 1' SubClassOf 'autosomal dominant hereditary sensory and autonomic neuropathy' 'hereditary sensory and autonomic neuropathy type 1' SubClassOf 'hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0018226 infantile epileptic-dyskinetic encephalopathy 'infantile epileptic-dyskinetic encephalopathy' SubClassOf 'persistent combined dystonia' 'infantile epileptic-dyskinetic encephalopathy' SubClassOf 'combined dystonia' http://purl.obolibrary.org/obo/MONDO_0018228 bipartite talus 'bipartite talus' SubClassOf 'dysostosis of genetic origin' 'bipartite talus' SubClassOf 'non-syndromic limb malformation' 'bipartite talus' SubClassOf 'genetic disorder' 'bipartite talus' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 'infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome' SubClassOf 'neuro-ophthalmological disease' 'infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome' SubClassOf 'genetic disorder' 'infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018222 X-linked intellectual disability due to GRIA3 anomalies 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf 'congenital nervous system disorder' 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018237 acrofacial dysostosis 'acrofacial dysostosis' SubClassOf 'dysostosis of genetic origin' 'acrofacial dysostosis' SubClassOf 'dysostosis' 'acrofacial dysostosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018239 aggrecan-related bone disorder 'aggrecan-related bone disorder' SubClassOf 'skeletal dysplasia' 'aggrecan-related bone disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018250 diffuse palmoplantar keratoderma with painful fissures 'diffuse palmoplantar keratoderma with painful fissures' SubClassOf 'autosomal dominant isolated diffuse palmoplantar keratoderma' 'diffuse palmoplantar keratoderma with painful fissures' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0018248 intellectual disability-seizures-macrocephaly-obesity syndrome 'intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'syndromic genetic obesity' http://purl.obolibrary.org/obo/MONDO_0018245 2p21 microdeletion syndrome without cystinuria '2p21 microdeletion syndrome without cystinuria' SubClassOf 'homozygous 2p21 microdeletion syndrome' '2p21 microdeletion syndrome without cystinuria' SubClassOf '2p21 microdeletion syndrome' http://purl.obolibrary.org/obo/MONDO_0018246 homozygous 2p21 microdeletion syndrome 'homozygous 2p21 microdeletion syndrome' SubClassOf '2p21 microdeletion syndrome' 'homozygous 2p21 microdeletion syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018241 primary short bowel syndrome 'primary short bowel syndrome' SubClassOf 'short bowel syndrome' 'primary short bowel syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018252 focal palmoplantar keratoderma with joint keratoses 'focal palmoplantar keratoderma with joint keratoses' SubClassOf 'isolated focal palmoplantar keratoderma' 'focal palmoplantar keratoderma with joint keratoses' SubClassOf 'focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0018267 combined cervical dystonia 'combined cervical dystonia' SubClassOf 'persistent combined dystonia' 'combined cervical dystonia' SubClassOf 'combined dystonia' http://purl.obolibrary.org/obo/MONDO_0018266 ataxia - telangiectasia variant 'ataxia - telangiectasia variant' SubClassOf 'persistent combined dystonia' 'ataxia - telangiectasia variant' SubClassOf 'syndromic disease' 'ataxia - telangiectasia variant' SubClassOf 'combined dystonia' http://purl.obolibrary.org/obo/MONDO_0018262 fetal anticonvulsant syndrome 'fetal anticonvulsant syndrome' SubClassOf 'toxic or drug-related embryofetopathy' 'fetal anticonvulsant syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy 'muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'cobblestone lissencephaly' 'muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'cobblestone lissencephaly' http://purl.obolibrary.org/obo/MONDO_0018283 primary qualitative or quantitative defects of alpha-dystroglycan 'primary qualitative or quantitative defects of alpha-dystroglycan' SubClassOf 'qualitative or quantitative defects of alpha-dystroglycan' 'primary qualitative or quantitative defects of alpha-dystroglycan' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018278 congenital muscular dystrophy with intellectual disability 'congenital muscular dystrophy with intellectual disability' SubClassOf 'disorder of O-mannosylglycan synthesis' 'congenital muscular dystrophy with intellectual disability' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0018277 congenital muscular dystrophy with cerebellar involvement 'congenital muscular dystrophy with cerebellar involvement' SubClassOf 'muscular dystrophy-dystroglycanopathy' 'congenital muscular dystrophy with cerebellar involvement' SubClassOf 'disorder of O-mannosylglycan synthesis' 'congenital muscular dystrophy with cerebellar involvement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018279 congenital muscular dystrophy without intellectual disability 'congenital muscular dystrophy without intellectual disability' SubClassOf 'disorder of O-mannosylglycan synthesis' 'congenital muscular dystrophy without intellectual disability' SubClassOf 'muscular dystrophy-dystroglycanopathy' 'congenital muscular dystrophy without intellectual disability' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018273 XYLT1-congenital disorder of glycosylation 'XYLT1-congenital disorder of glycosylation' SubClassOf 'disorder of O-xylosylglycan synthesis' 'XYLT1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0018292 congenital disorder of glycosylation-related bone disorder 'congenital disorder of glycosylation-related bone disorder' SubClassOf 'developmental anomaly of metabolic origin' 'congenital disorder of glycosylation-related bone disorder' SubClassOf 'bone disease' 'congenital disorder of glycosylation-related bone disorder' SubClassOf 'congenital disorder of glycosylation' 'congenital disorder of glycosylation-related bone disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf 'anophthalmia-microphthalmia syndrome' 'Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome' SubClassOf http://www.ebi.ac.uk/efo/EFO_0700119 http://purl.obolibrary.org/obo/MONDO_0008700 acheiropody 'acheiropody' SubClassOf 'non-syndromic terminal limb defects' 'acheiropody' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0008714 acrofacial dysostosis Rodriguez type 'acrofacial dysostosis Rodriguez type' SubClassOf 'branchial arch or oral-acral syndrome' 'acrofacial dysostosis Rodriguez type' SubClassOf 'dysostosis with predominant craniofacial involvement' http://purl.obolibrary.org/obo/MONDO_0008713 acrodermatitis enteropathica 'acrodermatitis enteropathica' SubClassOf 'intestinal disease due to fat malabsorption' 'acrodermatitis enteropathica' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 'congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'hereditary 46,XX disorder of sex development' 'congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'developmental anomaly of metabolic origin' 'congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'developmental anomaly of metabolic origin' 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'hereditary 46,XX disorder of sex development' 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'hereditary 46,XX disorder of sex development' 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf '46,XY disorder of sex development of endocrine origin' 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'hereditary 46,XY disorder of sex development' 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'developmental anomaly of metabolic origin' 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0008725 congenital lipoid adrenal hyperplasia due to STAR deficency 'congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'hereditary 46,XY disorder of sex development' 'congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'developmental anomaly of metabolic origin' 'congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf '46,XY disorder of sex development of endocrine origin' http://purl.obolibrary.org/obo/MONDO_0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone 'familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'hereditary 46,XY disorder of sex development' 'familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf '46,XY disorder of sex development of endocrine origin' 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'hereditary 46,XY disorder of sex development' 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'developmental anomaly of metabolic origin' 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0008741 PAGOD syndrome 'PAGOD syndrome' SubClassOf 'syndromic uterovaginal malformation' 'PAGOD syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008740 agnathia-otocephaly complex 'agnathia-otocephaly complex' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008756 alopecia - intellectual disability syndrome 'alopecia - intellectual disability syndrome' SubClassOf 'hereditary alopecia' 'alopecia - intellectual disability syndrome' SubClassOf 'syndromic disease' 'alopecia - intellectual disability syndrome' SubClassOf 'genetic disorder' 'alopecia - intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008763 Alstrom syndrome 'Alstrom syndrome' SubClassOf 'syndromic genetic obesity' 'Alstrom syndrome' SubClassOf 'syndromic disease' 'Alstrom syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008777 gelatinous drop-like corneal dystrophy 'gelatinous drop-like corneal dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008799 anophthalmia/microphthalmia-esophageal atresia syndrome 'anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf 'syndromic esophageal malformation' 'anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf 'non-acquired combined pituitary hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0008796 aniridia-renal agenesis-psychomotor retardation syndrome 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'syndromic aniridia' 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'syndromic disease' 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'disorder of visual system' 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008795 aniridia-cerebellar ataxia-intellectual disability syndrome 'aniridia-cerebellar ataxia-intellectual disability syndrome' SubClassOf 'syndromic aniridia' 'aniridia-cerebellar ataxia-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' 'aniridia-cerebellar ataxia-intellectual disability syndrome' SubClassOf 'syndromic disease' 'aniridia-cerebellar ataxia-intellectual disability syndrome' SubClassOf 'iridogoniodysgenesis' http://purl.obolibrary.org/obo/MONDO_0008791 anencephaly 1 'anencephaly 1' SubClassOf 'neural tube closure defect' http://purl.obolibrary.org/obo/MONDO_0018113 isolated plagiocephaly 'isolated plagiocephaly' SubClassOf 'isolated craniosynostosis' 'isolated plagiocephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018112 isolated scaphocephaly 'isolated scaphocephaly' SubClassOf 'isolated craniosynostosis' 'isolated scaphocephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018114 isolated brachycephaly 'isolated brachycephaly' SubClassOf 'isolated craniosynostosis' 'isolated brachycephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 'intellectual disability-obesity-brain malformations-facial dysmorphism syndrome' SubClassOf 'syndromic genetic obesity' 'intellectual disability-obesity-brain malformations-facial dysmorphism syndrome' SubClassOf 'bearer_of' some 'rare' 'intellectual disability-obesity-brain malformations-facial dysmorphism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018144 congenital myasthenic syndromes with glycosylation defect 'congenital myasthenic syndromes with glycosylation defect' SubClassOf 'congenital myasthenic syndrome' 'congenital myasthenic syndromes with glycosylation defect' SubClassOf 'congenital nervous system disorder' 'congenital myasthenic syndromes with glycosylation defect' SubClassOf 'disorder of protein N-glycosylation' 'congenital myasthenic syndromes with glycosylation defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018154 Madelung deformity 'Madelung deformity' SubClassOf 'joint formation defects' http://purl.obolibrary.org/obo/MONDO_0018169 morning glory syndrome 'morning glory syndrome' SubClassOf 'developmental defect of the eye' http://purl.obolibrary.org/obo/MONDO_0018163 autosomal recessive cutis laxa type 2A 'autosomal recessive cutis laxa type 2A' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0018191 tumor of testis and paratestis 'tumor of testis and paratestis' SubClassOf 'bearer_of' some 'rare' 'tumor of testis and paratestis' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy 'autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'autosomal dominant proximal spinal muscular atrophy' 'autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0018185 congenital anomaly of the great veins 'congenital anomaly of the great veins' SubClassOf 'congenital heart malformation' 'congenital anomaly of the great veins' SubClassOf 'vascular anomaly' 'congenital anomaly of the great veins' SubClassOf 'hereditary vascular anomaly' 'congenital anomaly of the great veins' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018188 hereditary intestinal polyposis 'hereditary intestinal polyposis' SubClassOf 'bearer_of' some 'rare' 'hereditary intestinal polyposis' SubClassOf 'polyposis' 'hereditary intestinal polyposis' SubClassOf 'intestinal disease' 'hereditary intestinal polyposis' SubClassOf 'genetic disorder' 'hereditary intestinal polyposis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018187 hereditary syndromic Pierre Robin syndrome 'hereditary syndromic Pierre Robin syndrome' SubClassOf 'disorder of development or morphogenesis' 'hereditary syndromic Pierre Robin syndrome' SubClassOf 'otorhinolaryngologic disease' 'hereditary syndromic Pierre Robin syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002710 COLO357 'COLO357' SubClassOf 'bearer_of' some 'pancreatic ductal adenocarcinoma' 'COLO357' SubClassOf 'bearer_of' some http://purl.obolibrary.org/obo/MONDO_0005184 http://www.ebi.ac.uk/efo/EFO_0002714 Panc89 'Panc89' SubClassOf 'bearer_of' some 'pancreatic ductal adenocarcinoma' 'Panc89' SubClassOf 'bearer_of' some http://purl.obolibrary.org/obo/MONDO_0005184 http://www.ebi.ac.uk/efo/EFO_0002713 Panc1 'Panc1' SubClassOf 'bearer_of' some 'pancreatic ductal adenocarcinoma' 'Panc1' SubClassOf 'bearer_of' some http://purl.obolibrary.org/obo/MONDO_0005184 http://www.ebi.ac.uk/efo/EFO_0002716 Pt45P1 'Pt45P1' SubClassOf 'bearer_of' some 'pancreatic ductal adenocarcinoma' 'Pt45P1' SubClassOf 'bearer_of' some http://purl.obolibrary.org/obo/MONDO_0005184 http://www.ebi.ac.uk/efo/EFO_0002715 PancTUI 'PancTUI' SubClassOf 'bearer_of' some 'pancreatic ductal adenocarcinoma' 'PancTUI' SubClassOf 'bearer_of' some http://purl.obolibrary.org/obo/MONDO_0005184 http://purl.obolibrary.org/obo/MONDO_0008619 ulna metaphyseal dysplasia syndrome 'ulna metaphyseal dysplasia syndrome' SubClassOf 'multiple metaphyseal dysplasia' 'ulna metaphyseal dysplasia syndrome' SubClassOf 'skeletal dysplasia' 'ulna metaphyseal dysplasia syndrome' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type 'mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'skeletal dysplasia' 'mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023599 http://purl.obolibrary.org/obo/MONDO_0008611 humerus trochlea aplasia 'humerus trochlea aplasia' SubClassOf 'dysostosis of genetic origin' 'humerus trochlea aplasia' SubClassOf 'dysostosis' 'humerus trochlea aplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008610 blue color blindness 'blue color blindness' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0002709 BxPC-3 'BxPC-3' SubClassOf 'bearer_of' some 'pancreatic ductal adenocarcinoma' 'BxPC-3' SubClassOf 'bearer_of' some http://purl.obolibrary.org/obo/MONDO_0005184 http://purl.obolibrary.org/obo/MONDO_0008621 uncombable hair syndrome 'uncombable hair syndrome' SubClassOf 'isolated genetic hair shaft abnormality' 'uncombable hair syndrome' SubClassOf 'hair anomaly' http://purl.obolibrary.org/obo/MONDO_0008620 upper limb mesomelic dysplasia 'upper limb mesomelic dysplasia' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'upper limb mesomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023599 'upper limb mesomelic dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008636 double uterus-hemivagina-renal agenesis syndrome 'double uterus-hemivagina-renal agenesis syndrome' SubClassOf 'syndromic urogenital tract malformation' 'double uterus-hemivagina-renal agenesis syndrome' SubClassOf 'syndromic uterovaginal malformation' 'double uterus-hemivagina-renal agenesis syndrome' SubClassOf 'syndromic disease' 'double uterus-hemivagina-renal agenesis syndrome' SubClassOf 'reproductive system disease' 'double uterus-hemivagina-renal agenesis syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0008642 VACTERL/vater association 'VACTERL/vater association' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'VACTERL/vater association' SubClassOf 'syndromic anorectal malformation' 'VACTERL/vater association' SubClassOf 'syndromic esophageal malformation' 'VACTERL/vater association' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'hereditary disorder of connective tissue' 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'type 1 interferonopathy' 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008652 congenital vertical talus 'congenital vertical talus' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008665 ptosis-vocal cord paralysis syndrome 'ptosis-vocal cord paralysis syndrome' SubClassOf 'eyelids malposition disorder' 'ptosis-vocal cord paralysis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008673 acrofacial dysostosis, Weyers type 'acrofacial dysostosis, Weyers type' SubClassOf 'branchial arch or oral-acral syndrome' 'acrofacial dysostosis, Weyers type' SubClassOf 'dysostosis with predominant craniofacial involvement' http://purl.obolibrary.org/obo/MONDO_0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 'dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0008686 isolated familial wooly hair disorder 'isolated familial wooly hair disorder' SubClassOf 'isolated genetic hair shaft abnormality' 'isolated familial wooly hair disorder' SubClassOf 'hair anomaly' http://purl.obolibrary.org/obo/MONDO_0008682 Denys-Drash syndrome 'Denys-Drash syndrome' SubClassOf 'hereditary 46,XY disorder of sex development' 'Denys-Drash syndrome' SubClassOf 'syndromic disease' 'Denys-Drash syndrome' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0008681 WAGR syndrome 'WAGR syndrome' SubClassOf 'syndromic genetic obesity' 'WAGR syndrome' SubClassOf 'hereditary 46,XY disorder of sex development' 'WAGR syndrome' SubClassOf 'inherited renal cancer-predisposing syndrome' 'WAGR syndrome' SubClassOf 'syndromic aniridia' 'WAGR syndrome' SubClassOf 'hereditary neoplastic syndrome' 'WAGR syndrome' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0018001 inverse Klippel-Trenaunay syndrome 'inverse Klippel-Trenaunay syndrome' SubClassOf 'vascular bone neoplasm' 'inverse Klippel-Trenaunay syndrome' SubClassOf 'congenital vascular bone syndrome' 'inverse Klippel-Trenaunay syndrome' SubClassOf 'vascular neoplasm' 'inverse Klippel-Trenaunay syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018000 hereditary thrombocytosis with transverse limb defect 'hereditary thrombocytosis with transverse limb defect' SubClassOf 'dysostosis of genetic origin' 'hereditary thrombocytosis with transverse limb defect' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0008699 achalasia microcephaly syndrome 'achalasia microcephaly syndrome' SubClassOf 'syndromic esophageal malformation' http://purl.obolibrary.org/obo/MONDO_0008693 ablepharon macrostomia syndrome 'ablepharon macrostomia syndrome' SubClassOf 'microblepharon-ablephara syndrome' 'ablepharon macrostomia syndrome' SubClassOf 'syndromic disease' 'ablepharon macrostomia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008692 abetalipoproteinemia 'abetalipoproteinemia' SubClassOf 'intestinal disease due to fat malabsorption' 'abetalipoproteinemia' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0018039 selective IgM deficiency 'selective IgM deficiency' SubClassOf 'immunodeficiency predominantly affecting antibody production' http://purl.obolibrary.org/obo/MONDO_0018037 hyper-IgE syndrome 'hyper-IgE syndrome' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' http://purl.obolibrary.org/obo/MONDO_0018050 tibial aplasia-ectrodactyly syndrome 'tibial aplasia-ectrodactyly syndrome' SubClassOf 'dysostosis of genetic origin' 'tibial aplasia-ectrodactyly syndrome' SubClassOf 'dysostosis' 'tibial aplasia-ectrodactyly syndrome' SubClassOf 'genetic disorder' 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 'hereditary disorder of connective tissue' 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'dysostosis of genetic origin' 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'bone neoplasm' 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0018053 trichothiodystrophy 'trichothiodystrophy' SubClassOf 'autosomal ichthyosis syndrome' http://purl.obolibrary.org/obo/MONDO_0018071 trisomy 18 'trisomy 18' SubClassOf 'syndromic anorectal malformation' 'trisomy 18' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018070 familial multiple fibrofolliculoma 'familial multiple fibrofolliculoma' SubClassOf 'inherited skin tumor' 'familial multiple fibrofolliculoma' SubClassOf 'hereditary skin disorder' 'familial multiple fibrofolliculoma' SubClassOf 'cancer or benign tumor' http://purl.obolibrary.org/obo/MONDO_0018068 trisomy 13 'trisomy 13' SubClassOf 'syndromic anorectal malformation' 'trisomy 13' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018067 triploidy 'triploidy' SubClassOf 'syndromic genetic obesity' http://purl.obolibrary.org/obo/MONDO_0018085 umbilical cord ulceration-intestinal atresia syndrome 'umbilical cord ulceration-intestinal atresia syndrome' SubClassOf 'syndromic intestinal malformation' 'umbilical cord ulceration-intestinal atresia syndrome' SubClassOf 'syndromic disease' 'umbilical cord ulceration-intestinal atresia syndrome' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'dysostosis of genetic origin' 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'syndromic disease' 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'genetic disorder' 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0018089 double outlet right ventricle 'double outlet right ventricle' SubClassOf 'hereditary cardiac anomaly' http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever 'familial Mediterranean fever' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'familial Mediterranean fever' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome 'Bosch-Boonstra-Schaaf optic atrophy syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 'diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome' SubClassOf 'neurodegenerative disease' 'diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0014331 Moyamoya disease with early-onset achalasia 'Moyamoya disease with early-onset achalasia' SubClassOf 'hereditary gastro-esophageal disease' 'Moyamoya disease with early-onset achalasia' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0014343 Desbuquois dysplasia 2 'Desbuquois dysplasia 2' SubClassOf 'primary bone dysplasia with multiple joint dislocations' http://purl.obolibrary.org/obo/MONDO_0014366 spermatogenic failure 14 'spermatogenic failure 14' SubClassOf 'male infertility with azoospermia or oligozoospermia due to single gene mutation' http://purl.obolibrary.org/obo/MONDO_0014365 spermatogenic failure 13 'spermatogenic failure 13' SubClassOf 'male infertility with azoospermia or oligozoospermia due to single gene mutation' http://purl.obolibrary.org/obo/MONDO_0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 'postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome' SubClassOf 'dysostosis of genetic origin' 'postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0014375 congenital diarrhea 7 with exudative enteropathy 'congenital diarrhea 7 with exudative enteropathy' SubClassOf 'intractable diarrhea of infancy' 'congenital diarrhea 7 with exudative enteropathy' SubClassOf 'bearer_of' some 'rare' 'congenital diarrhea 7 with exudative enteropathy' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0014388 familial median cleft of the upper and lower lips 'familial median cleft of the upper and lower lips' SubClassOf 'hereditary head and neck malformation' 'familial median cleft of the upper and lower lips' SubClassOf 'median facial cleft' 'familial median cleft of the upper and lower lips' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0014382 Tatton-Brown-Rahman overgrowth syndrome 'Tatton-Brown-Rahman overgrowth syndrome' SubClassOf 'overgrowth or tall stature syndrome with skeletal involvement' 'Tatton-Brown-Rahman overgrowth syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome 'colobomatous microphthalmia-rhizomelic dysplasia syndrome' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'colobomatous microphthalmia-rhizomelic dysplasia syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome 'tall stature-scoliosis-macrodactyly of the great toes syndrome' SubClassOf 'overgrowth or tall stature syndrome with skeletal involvement' 'tall stature-scoliosis-macrodactyly of the great toes syndrome' SubClassOf 'dysostosis of genetic origin' 'tall stature-scoliosis-macrodactyly of the great toes syndrome' SubClassOf 'skeletal dysplasia' 'tall stature-scoliosis-macrodactyly of the great toes syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014405 STING-associated vasculopathy with onset in infancy 'STING-associated vasculopathy with onset in infancy' SubClassOf 'type 1 interferonopathy' 'STING-associated vasculopathy with onset in infancy' SubClassOf 'predominantly small-vessel vasculitis' 'STING-associated vasculopathy with onset in infancy' SubClassOf 'inflammatory disease' 'STING-associated vasculopathy with onset in infancy' SubClassOf 'autoinflammatory syndrome' 'STING-associated vasculopathy with onset in infancy' SubClassOf 'vascular disease' 'STING-associated vasculopathy with onset in infancy' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 'ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014421 glucocorticoid resistance 'glucocorticoid resistance' SubClassOf 'developmental anomaly of metabolic origin' 'glucocorticoid resistance' SubClassOf '46,XX disorder of sex development induced by fetal androgens excess' 'glucocorticoid resistance' SubClassOf 'inherited lipid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0014420 short stature due to primary acid-labile subunit deficiency 'short stature due to primary acid-labile subunit deficiency' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_99027 Adult-onset autosomal dominant leukodystrophy 'Adult-onset autosomal dominant leukodystrophy' SubClassOf 'hereditary neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency 'severe early-onset pulmonary alveolar proteinosis due to MARS deficiency' SubClassOf 'pulmonary alveolar proteinosis' 'severe early-onset pulmonary alveolar proteinosis due to MARS deficiency' SubClassOf 'hereditary pulmonary alveolar proteinosis' http://purl.obolibrary.org/obo/MONDO_0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 'severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome 'severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome 'intellectual disability-hypotonia-spasticity-sleep disorder syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014224 developmental delay with autism spectrum disorder and gait instability 'developmental delay with autism spectrum disorder and gait instability' SubClassOf 'Neurodevelopmental disorder' 'developmental delay with autism spectrum disorder and gait instability' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 'severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014244 hereditary sensory and autonomic neuropathy type 7 'hereditary sensory and autonomic neuropathy type 7' SubClassOf 'autosomal dominant hereditary sensory and autonomic neuropathy' 'hereditary sensory and autonomic neuropathy type 7' SubClassOf 'hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0014249 multiple fibroadenoma of the breast 'multiple fibroadenoma of the breast' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 'congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome' SubClassOf 'disorder of asparagine metabolism' 'congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome' SubClassOf 'inborn errors of metabolism' 'congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014272 palmoplantar keratoderma, Nagashima type 'palmoplantar keratoderma, Nagashima type' SubClassOf 'autosomal recessive isolated diffuse palmoplantar keratoderma' 'palmoplantar keratoderma, Nagashima type' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0014274 L-ferritin deficiency 'L-ferritin deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014273 microcephaly-thin corpus callosum-intellectual disability syndrome 'microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014289 macrocephaly-developmental delay syndrome 'macrocephaly-developmental delay syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014302 hereditary spastic paraplegia 62 'hereditary spastic paraplegia 62' SubClassOf 'autosomal recessive pure spastic paraplegia' 'hereditary spastic paraplegia 62' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014300 proximal myopathy with extrapyramidal signs 'proximal myopathy with extrapyramidal signs' SubClassOf 'hereditary skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0014306 vasculitis due to ADA2 deficiency 'vasculitis due to ADA2 deficiency' SubClassOf 'type 1 interferonopathy' 'vasculitis due to ADA2 deficiency' SubClassOf 'hereditary disorder of connective tissue' 'vasculitis due to ADA2 deficiency' SubClassOf 'predominantly medium-vessel vasculitis' 'vasculitis due to ADA2 deficiency' SubClassOf 'syndromic disease' 'vasculitis due to ADA2 deficiency' SubClassOf 'vasculitis' http://purl.obolibrary.org/obo/MONDO_0014305 hereditary spastic paraplegia 63 'hereditary spastic paraplegia 63' SubClassOf 'autosomal recessive complex spastic paraplegia' 'hereditary spastic paraplegia 63' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014304 hereditary spastic paraplegia 61 'hereditary spastic paraplegia 61' SubClassOf 'autosomal recessive complex spastic paraplegia' 'hereditary spastic paraplegia 61' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014303 hereditary spastic paraplegia 64 'hereditary spastic paraplegia 64' SubClassOf 'autosomal recessive complex spastic paraplegia' 'hereditary spastic paraplegia 64' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity 'autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement 'hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'primary interstitial lung disease specific to adulthood' 'hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'respiratory system disease' 'hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome 'sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014119 intellectual disability-strabismus syndrome 'intellectual disability-strabismus syndrome' SubClassOf 'neuro-ophthalmological disease' 'intellectual disability-strabismus syndrome' SubClassOf 'bearer_of' some 'rare' 'intellectual disability-strabismus syndrome' SubClassOf 'disorder of visual system' 'intellectual disability-strabismus syndrome' SubClassOf 'genetic disorder' 'intellectual disability-strabismus syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014142 autosomal recessive limb-girdle muscular dystrophy type 2T 'autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'disorder of O-mannosylglycan synthesis' http://purl.obolibrary.org/obo/MONDO_0014157 mandibular hypoplasia-deafness-progeroid syndrome 'mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'skeletal system disease' 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0014195 microcornea-myopic chorioretinal atrophy 'microcornea-myopic chorioretinal atrophy' SubClassOf 'developmental defect of the eye' http://purl.obolibrary.org/obo/MONDO_0014196 Hartsfield-Bixler-Demyer syndrome 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'ectrodactyly with and without other manifestations' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'syndromic disease' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0014016 hereditary spastic paraplegia 49 'hereditary spastic paraplegia 49' SubClassOf 'autosomal recessive complex spastic paraplegia' 'hereditary spastic paraplegia 49' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014015 hereditary spastic paraplegia 56 'hereditary spastic paraplegia 56' SubClassOf 'pure or complex autosomal recessive spastic paraplegia' 'hereditary spastic paraplegia 56' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014013 maternal riboflavin deficiency 'maternal riboflavin deficiency' SubClassOf 'disorder of other vitamins and cofactors metabolism and transport' 'maternal riboflavin deficiency' SubClassOf 'disorder of metabolite absorption and transport' http://purl.obolibrary.org/obo/MONDO_0014018 hereditary spastic paraplegia 54 'hereditary spastic paraplegia 54' SubClassOf 'autosomal recessive complex spastic paraplegia' 'hereditary spastic paraplegia 54' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014025 lower motor neuron syndrome with late-adult onset 'lower motor neuron syndrome with late-adult onset' SubClassOf 'autosomal dominant proximal spinal muscular atrophy' 'lower motor neuron syndrome with late-adult onset' SubClassOf 'proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0014024 hereditary spastic paraplegia 43 'hereditary spastic paraplegia 43' SubClassOf 'autosomal recessive complex spastic paraplegia' 'hereditary spastic paraplegia 43' SubClassOf 'complex hereditary spastic paraplegia' http://www.orpha.net/ORDO/Orphanet_271841 Genetic cardiac tumor 'Genetic cardiac tumor' SubClassOf 'inherited cardiac tumor' 'Genetic cardiac tumor' SubClassOf 'Heart neoplasm' http://purl.obolibrary.org/obo/MONDO_0014020 hereditary spastic paraplegia 55 'hereditary spastic paraplegia 55' SubClassOf 'autosomal recessive complex spastic paraplegia' 'hereditary spastic paraplegia 55' SubClassOf 'c12orf65-related combined oxidative phosphorylation defect' 'hereditary spastic paraplegia 55' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 55' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0014037 spermatogenic failure 11 'spermatogenic failure 11' SubClassOf 'male infertility with azoospermia or oligozoospermia due to single gene mutation' http://purl.obolibrary.org/obo/MONDO_0014031 microcephalic primordial dwarfism, Alazami type 'microcephalic primordial dwarfism, Alazami type' SubClassOf 'microcephalic primordial dwarfism' 'microcephalic primordial dwarfism, Alazami type' SubClassOf 'syndromic disease' 'microcephalic primordial dwarfism, Alazami type' SubClassOf 'primordial dwarfism and slender bone disorder' http://purl.obolibrary.org/obo/MONDO_0014043 microcephalic primordial dwarfism due to ZNF335 deficiency 'microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'congenital nervous system disorder' 'microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'microcephalic primordial dwarfism' 'microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0014052 congenital myasthenic syndrome 8 'congenital myasthenic syndrome 8' SubClassOf 'presynaptic congenital myasthenic syndrome' http://purl.obolibrary.org/obo/MONDO_0014062 mitochondrial DNA deletion syndrome with progressive myopathy 'mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'multiple mitochondrial DNA deletion syndrome' 'mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0014060 progressive retinal dystrophy due to retinol transport defect 'progressive retinal dystrophy due to retinol transport defect' SubClassOf 'disorder of other vitamins and cofactors metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0014097 congenital short bowel syndrome 'congenital short bowel syndrome' SubClassOf 'non-syndromic intestinal malformation' 'congenital short bowel syndrome' SubClassOf 'primary short bowel syndrome' 'congenital short bowel syndrome' SubClassOf 'small intestine disorder' 'congenital short bowel syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0004573 ariboflavinosis 'ariboflavinosis' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0018923 22q11.2 deletion syndrome '22q11.2 deletion syndrome' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' '22q11.2 deletion syndrome' SubClassOf 'syndromic anorectal malformation' '22q11.2 deletion syndrome' SubClassOf 'hereditary otorhinolaryngologic disease' '22q11.2 deletion syndrome' SubClassOf 'hereditary syndromic Pierre Robin syndrome' '22q11.2 deletion syndrome' SubClassOf 'branchial arch or oral-acral syndrome' '22q11.2 deletion syndrome' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0018939 muscle-eye-brain disease 'muscle-eye-brain disease' SubClassOf 'cobblestone lissencephaly' 'muscle-eye-brain disease' SubClassOf 'developmental anomaly of metabolic origin' 'muscle-eye-brain disease' SubClassOf 'muscular dystrophy-dystroglycanopathy' 'muscle-eye-brain disease' SubClassOf 'qualitative or quantitative defects of protein O-mannosyltransferase 2' 'muscle-eye-brain disease' SubClassOf 'myopathy caused by variation in FKRP' 'muscle-eye-brain disease' SubClassOf 'myopathy caused by variation in POMGNT1' 'muscle-eye-brain disease' SubClassOf 'disorder of O-mannosylglycan synthesis' 'muscle-eye-brain disease' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0018933 Mazabraud syndrome 'Mazabraud syndrome' SubClassOf 'inherited soft tissue tumor' 'Mazabraud syndrome' SubClassOf 'genetic disorder' 'Mazabraud syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018948 multiminicore myopathy 'multiminicore myopathy' SubClassOf 'congenital myopathy with cores' 'multiminicore myopathy' SubClassOf 'congenital nervous system disorder' 'multiminicore myopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018940 congenital myasthenic syndrome 'congenital myasthenic syndrome' SubClassOf 'syndromic disease' 'congenital myasthenic syndrome' SubClassOf 'eyelids malposition disorder' 'congenital myasthenic syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018953 parietal foramina 'parietal foramina' SubClassOf 'cranial malformation' http://purl.obolibrary.org/obo/MONDO_0018968 iniencephaly 'iniencephaly' SubClassOf 'neural tube closure defect' 'iniencephaly' SubClassOf 'neural tube defect' http://purl.obolibrary.org/obo/MONDO_0018969 craniorachischisis 'craniorachischisis' SubClassOf 'neural tube closure defect' 'craniorachischisis' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome 'Alport syndrome' SubClassOf 'glomerulonephritis' 'Alport syndrome' SubClassOf 'disease of glomerular basement membrane' http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter 'congenital primary megaureter' SubClassOf 'non-syndromic renal or urinary tract malformation' 'congenital primary megaureter' SubClassOf 'bearer_of' some 'rare' 'congenital primary megaureter' SubClassOf 'kidney disease' 'congenital primary megaureter' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0018962 common mesentery 'common mesentery' SubClassOf 'non-syndromic intestinal malformation' 'common mesentery' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 'neurofibromatosis type 1' SubClassOf 'primary bone dysplasia with disorganized development of skeletal components' http://purl.obolibrary.org/obo/MONDO_0018988 iridocorneal endothelial syndrome 'iridocorneal endothelial syndrome' SubClassOf 'syndromic corneal dystrophy' 'iridocorneal endothelial syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018980 acrofacial dysostosis, Kennedy-Teebi type 'acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'branchial arch or oral-acral syndrome' http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome 'Noonan syndrome' SubClassOf 'eyelids malposition disorder' 'Noonan syndrome' SubClassOf 'malposition of external canthus' 'Noonan syndrome' SubClassOf 'syndromic lymphedema' 'Noonan syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis 'Leber congenital amaurosis' SubClassOf 'syndromic keratoconus' 'Leber congenital amaurosis' SubClassOf 'syndromic hyperopia' http://purl.obolibrary.org/obo/MONDO_0018995 Charcot-Marie-Tooth disease type 4 'Charcot-Marie-Tooth disease type 4' SubClassOf 'autosomal recessive hereditary demyelinating motor and sensory neuropathy' 'Charcot-Marie-Tooth disease type 4' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0018801 congenital bilateral absence of vas deferens 'congenital bilateral absence of vas deferens' SubClassOf 'non-syndromic urogenital tract malformation of male' 'congenital bilateral absence of vas deferens' SubClassOf 'bearer_of' some 'rare' 'congenital bilateral absence of vas deferens' SubClassOf 'male reproductive system disease' 'congenital bilateral absence of vas deferens' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0018829 familial schizencephaly 'familial schizencephaly' SubClassOf 'hereditary cerebral malformation' 'familial schizencephaly' SubClassOf 'COL4A1 or COL4A2-related cerebral small vessel disease' 'familial schizencephaly' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018827 familial chilblain lupus 'familial chilblain lupus' SubClassOf 'type 1 interferonopathy' http://purl.obolibrary.org/obo/MONDO_0018832 HTRA1-related autosomal dominant cerebral small vessel disease 'HTRA1-related autosomal dominant cerebral small vessel disease' SubClassOf 'HTRA1-related cerebral small vessel disease' 'HTRA1-related autosomal dominant cerebral small vessel disease' SubClassOf 'cerebrovascular disorder' http://purl.obolibrary.org/obo/MONDO_0018831 HTRA1-related cerebral small vessel disease 'HTRA1-related cerebral small vessel disease' SubClassOf 'cerebrovascular disorder' 'HTRA1-related cerebral small vessel disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018849 dentinogenesis imperfecta 'dentinogenesis imperfecta' SubClassOf 'hereditary dentin defect' 'dentinogenesis imperfecta' SubClassOf 'tooth disease' http://purl.obolibrary.org/obo/MONDO_0018843 embryonal carcinoma of the central nervous system 'embryonal carcinoma of the central nervous system' SubClassOf 'primary germ cell tumor of central nervous system' http://purl.obolibrary.org/obo/MONDO_0018853 transgrediens et progrediens palmoplantar keratoderma 'transgrediens et progrediens palmoplantar keratoderma' SubClassOf 'autosomal dominant isolated diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0018855 keratosis pilaris atrophicans 'keratosis pilaris atrophicans' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0018851 familial keratoacanthoma 'familial keratoacanthoma' SubClassOf 'inherited skin tumor' 'familial keratoacanthoma' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0018865 striate palmoplantar keratoderma 'striate palmoplantar keratoderma' SubClassOf 'isolated focal palmoplantar keratoderma' 'striate palmoplantar keratoderma' SubClassOf 'focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0018866 Aicardi-Goutieres syndrome 'Aicardi-Goutieres syndrome' SubClassOf 'hereditary disorder of connective tissue' 'Aicardi-Goutieres syndrome' SubClassOf 'type 1 interferonopathy' 'Aicardi-Goutieres syndrome' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'Aicardi-Goutieres syndrome' SubClassOf 'syndromic disease' 'Aicardi-Goutieres syndrome' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0018875 Li-Fraumeni syndrome 'Li-Fraumeni syndrome' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'Li-Fraumeni syndrome' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0018888 congenital cornea plana 'congenital cornea plana' SubClassOf 'bearer_of' some 'congenital' 'congenital cornea plana' SubClassOf 'cornea plana' 'congenital cornea plana' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018883 Berardinelli-Seip congenital lipodystrophy 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018892 Wyburn-Mason syndrome 'Wyburn-Mason syndrome' SubClassOf 'neurovascular disorder' http://www.ebi.ac.uk/efo/EFO_0003105 spina bifida 'spina bifida' SubClassOf 'neural tube closure defect' 'spina bifida' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0018916 isolated anorectal malformation 'isolated anorectal malformation' SubClassOf 'anorectal malformation' 'isolated anorectal malformation' SubClassOf 'bearer_of' some 'has an isolated presentation' 'isolated anorectal malformation' EquivalentTo 'anorectal malformation' and ('bearer_of' some 'has an isolated presentation') 'isolated anorectal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018919 McCune-Albright syndrome 'McCune-Albright syndrome' SubClassOf 'primary bone dysplasia with disorganized development of skeletal components' 'McCune-Albright syndrome' SubClassOf 'fibrous dysplasia/McCune-Albright syndrome' 'McCune-Albright syndrome' SubClassOf 'skeletal dysplasia' 'McCune-Albright syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018910 oculocutaneous albinism 'oculocutaneous albinism' SubClassOf 'oculocutaneous or ocular albinism' http://www.orpha.net/ORDO/Orphanet_85275 Microphthalmia - ankyloblepharon - intellectual disability 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf 'anophthalmia-microphthalmia syndrome' 'Microphthalmia - ankyloblepharon - intellectual disability' SubClassOf http://www.ebi.ac.uk/efo/EFO_0700119 http://purl.obolibrary.org/obo/MONDO_0009008 heart defect - tongue hamartoma - polysyndactyly syndrome 'heart defect - tongue hamartoma - polysyndactyly syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009007 Jalili syndrome 'Jalili syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009000 familial reactive perforating collagenosis 'familial reactive perforating collagenosis' SubClassOf 'dermis elastic tissue disorder' 'familial reactive perforating collagenosis' SubClassOf 'dermis disorder' http://purl.obolibrary.org/obo/MONDO_0009010 aortic arch interruption 'aortic arch interruption' SubClassOf 'aortic malformation' 'aortic arch interruption' SubClassOf 'congenital anomaly of the great arteries' http://purl.obolibrary.org/obo/MONDO_0009019 congenital hereditary endothelial dystrophy of cornea 'congenital hereditary endothelial dystrophy of cornea' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009015 corneal dystrophy-perceptive deafness syndrome 'corneal dystrophy-perceptive deafness syndrome' SubClassOf 'syndromic corneal dystrophy' 'corneal dystrophy-perceptive deafness syndrome' SubClassOf 'syndromic disease' 'corneal dystrophy-perceptive deafness syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010004 EEC syndrome 'EEC syndrome' SubClassOf 'EEC syndrome and related syndrome' 'EEC syndrome' SubClassOf 'dysostosis of genetic origin' 'EEC syndrome' SubClassOf 'secondary entropion' 'EEC syndrome' SubClassOf 'dysostosis' 'EEC syndrome' SubClassOf 'disorder of visual system' 'EEC syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0000698 gamma-amino butyric acid metabolism disorder 'gamma-amino butyric acid metabolism disorder' SubClassOf 'inborn disorder of gamma-aminobutyric acid metabolism' 'gamma-amino butyric acid metabolism disorder' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'gamma-amino butyric acid metabolism disorder' SubClassOf 'amino acid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0009024 cortical blindness-intellectual disability-polydactyly syndrome 'cortical blindness-intellectual disability-polydactyly syndrome' SubClassOf 'neuro-ophthalmological disease' 'cortical blindness-intellectual disability-polydactyly syndrome' SubClassOf 'disorder of visual system' 'cortical blindness-intellectual disability-polydactyly syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009031 craniodiaphyseal dysplasia 'craniodiaphyseal dysplasia' SubClassOf 'cranial malformation' 'craniodiaphyseal dysplasia' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0010014 craniometadiaphyseal dysplasia, wormian bone type 'craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'primary bone dysplasia with increased bone density' 'craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010013 schneckenbecken dysplasia 'schneckenbecken dysplasia' SubClassOf 'disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis' 'schneckenbecken dysplasia' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 'schneckenbecken dysplasia' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0009039 Baller-Gerold syndrome 'Baller-Gerold syndrome' SubClassOf 'syndromic anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0009034 craniofacial dyssynostosis 'craniofacial dyssynostosis' SubClassOf 'cranial malformation' 'craniofacial dyssynostosis' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0009033 temtamy syndrome 'temtamy syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010026 SHORT syndrome 'SHORT syndrome' SubClassOf 'syndromic hyperopia' 'SHORT syndrome' SubClassOf 'syndromic disease' 'SHORT syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome 'Fraser syndrome' SubClassOf 'syndromic anorectal malformation' 'Fraser syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010031 Sjogren-Larsson syndrome 'Sjogren-Larsson syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'Sjogren-Larsson syndrome' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0010035 Smith-Lemli-Opitz syndrome 'Smith-Lemli-Opitz syndrome' SubClassOf 'eyelids malposition disorder' 'Smith-Lemli-Opitz syndrome' SubClassOf 'syndromic epicanthus' 'Smith-Lemli-Opitz syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0010038 growth delay due to insulin-like growth factor I resistance 'growth delay due to insulin-like growth factor I resistance' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome 'cystic fibrosis-gastritis-megaloblastic anemia syndrome' SubClassOf 'hereditary gastro-esophageal disease' 'cystic fibrosis-gastritis-megaloblastic anemia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010044 hereditary spastic paraplegia 15 'hereditary spastic paraplegia 15' SubClassOf 'autosomal recessive complex spastic paraplegia' 'hereditary spastic paraplegia 15' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010047 hereditary spastic paraplegia 5A 'hereditary spastic paraplegia 5A' SubClassOf 'pure or complex autosomal recessive spastic paraplegia' 'hereditary spastic paraplegia 5A' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010046 hereditary spastic paraplegia 23 'hereditary spastic paraplegia 23' SubClassOf 'autosomal recessive complex spastic paraplegia' 'hereditary spastic paraplegia 23' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010049 spastic paraplegia-glaucoma-intellectual disability syndrome 'spastic paraplegia-glaucoma-intellectual disability syndrome' SubClassOf 'autosomal recessive complex spastic paraplegia' 'spastic paraplegia-glaucoma-intellectual disability syndrome' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0009068 cytochrome-c oxidase deficiency disease 'cytochrome-c oxidase deficiency disease' SubClassOf 'isolated oxidative phosphorylation complex disorder' http://purl.obolibrary.org/obo/MONDO_0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 'spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome' SubClassOf 'genetic disorder' 'spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' 'spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009079 DOORS syndrome 'DOORS syndrome' SubClassOf 'deafness-onychodystrophy syndrome' 'DOORS syndrome' SubClassOf 'syndromic disease' 'DOORS syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010064 spastic ataxia-corneal dystrophy syndrome 'spastic ataxia-corneal dystrophy syndrome' SubClassOf 'syndromic corneal dystrophy' 'spastic ataxia-corneal dystrophy syndrome' SubClassOf 'disorder of visual system' 'spastic ataxia-corneal dystrophy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010066 familial isolated congenital asplenia 'familial isolated congenital asplenia' SubClassOf 'non-syndromic visceral malformation' 'familial isolated congenital asplenia' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'familial isolated congenital asplenia' SubClassOf 'inborn error of immunity' 'familial isolated congenital asplenia' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'syndromic urogenital tract malformation' 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'syndromic anorectal malformation' 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'syndromic uterovaginal malformation' 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'dysostosis of genetic origin' 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'dysostosis' 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'reproductive system disease' 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'genetic disorder' 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009082 high myopia-sensorineural deafness syndrome 'high myopia-sensorineural deafness syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009080 split hand-foot malformation 1 with sensorineural hearing loss 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'dysostosis of genetic origin' 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'ectrodactyly with and without other manifestations' 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'dysostosis' 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010063 corneal-cerebellar syndrome 'corneal-cerebellar syndrome' SubClassOf 'syndromic corneal dystrophy' 'corneal-cerebellar syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 'spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures' SubClassOf 'primary bone dysplasia with multiple joint dislocations' http://purl.obolibrary.org/obo/MONDO_0009094 dermochondrocorneal dystrophy 'dermochondrocorneal dystrophy' SubClassOf 'syndromic corneal dystrophy' 'dermochondrocorneal dystrophy' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0034024 kyphoscoliotic Ehlers-Danlos syndrome 'kyphoscoliotic Ehlers-Danlos syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'kyphoscoliotic Ehlers-Danlos syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1002008 atypical teratoid rhabdoid tumor 'atypical teratoid rhabdoid tumor' SubClassOf 'embryonal tumor of neuroepithelial tissue' http://purl.obolibrary.org/obo/MONDO_0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 'hypertrophic osteoarthropathy, primary, autosomal recessive, 1' SubClassOf 'primary bone dysplasia with increased bone density' http://purl.obolibrary.org/obo/MONDO_0024568 infantile liver failure syndrome 1 'infantile liver failure syndrome 1' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0024560 PDA1 'PDA1' SubClassOf 'familial patent arterial duct' 'PDA1' SubClassOf 'vascular disease' 'PDA1' SubClassOf 'genetic disorder' 'PDA1' SubClassOf 'congenital heart disease' http://www.ebi.ac.uk/efo/EFO_0007236 diffuse idiopathic skeletal hyperostosis 'diffuse idiopathic skeletal hyperostosis' SubClassOf 'dysostosis of genetic origin' 'diffuse idiopathic skeletal hyperostosis' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_319189 Familial cortical myoclonus 'Familial cortical myoclonus' SubClassOf 'primary myoclonus' 'Familial cortical myoclonus' SubClassOf 'movement disorder' http://www.ebi.ac.uk/efo/EFO_0007269 Felty's syndrome 'Felty's syndrome' SubClassOf 'syndromic disease' 'Felty's syndrome' SubClassOf 'acquired neutropenia' 'Felty's syndrome' SubClassOf 'bearer_of' some 'rare' 'Felty's syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0007143 alveolar soft part sarcoma 'alveolar soft part sarcoma' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0007130 acute disseminated encephalomyelitis 'acute disseminated encephalomyelitis' SubClassOf 'multiple sclerosis variant' 'acute disseminated encephalomyelitis' SubClassOf 'demyelinating disease' http://www.ebi.ac.uk/efo/EFO_0007170 bird fancier's lung 'bird fancier's lung' SubClassOf 'occupational allergic alveolitis' 'bird fancier's lung' SubClassOf 'hypersensitivity pneumonitis' 'bird fancier's lung' SubClassOf 'occupational lung disease' http://www.orpha.net/ORDO/Orphanet_3175 Spasticity - intellectual disability - X-linked epilepsy 'Spasticity - intellectual disability - X-linked epilepsy' SubClassOf 'ARX-related epileptic encephalopathy' 'Spasticity - intellectual disability - X-linked epilepsy' SubClassOf http://www.ebi.ac.uk/efo/EFO_0700044 http://www.ebi.ac.uk/efo/EFO_0007160 autoimmune thrombocytopenic purpura 'autoimmune thrombocytopenic purpura' SubClassOf 'inherited bleeding disorder, platelet-type' 'autoimmune thrombocytopenic purpura' SubClassOf 'inherited thrombocytopenia' 'autoimmune thrombocytopenic purpura' SubClassOf 'inherited blood coagulation disorder' http://www.ebi.ac.uk/efo/EFO_0007186 bulbar polio 'bulbar polio' SubClassOf 'disorder of medulla oblongata' 'bulbar polio' SubClassOf 'brain disease' http://www.orpha.net/ORDO/Orphanet_3157 Septo-optic dysplasia 'Septo-optic dysplasia' SubClassOf 'developmental defect of the eye' 'Septo-optic dysplasia' SubClassOf 'hereditary neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y 'autosomal recessive limb-girdle muscular dystrophy type 2Y' SubClassOf 'qualitative or quantitative defects of Torsin-1A-interacting protein 1' http://purl.obolibrary.org/obo/MONDO_0014951 intellectual developmental disorder, autosomal recessive 74 'intellectual developmental disorder, autosomal recessive 74' SubClassOf 'overgrowth or tall stature syndrome with skeletal involvement' http://purl.obolibrary.org/obo/MONDO_0014952 intellectual disability-epilepsy-extrapyramidal syndrome 'intellectual disability-epilepsy-extrapyramidal syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014975 autosomal recessive spastic paraplegia type 78 'autosomal recessive spastic paraplegia type 78' SubClassOf 'autosomal recessive complex spastic paraplegia' 'autosomal recessive spastic paraplegia type 78' SubClassOf 'autosomal recessive disease' 'autosomal recessive spastic paraplegia type 78' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0024304 ichthyosis vulgaris 'ichthyosis vulgaris' SubClassOf 'inherited non-syndromic ichthyosis' 'ichthyosis vulgaris' SubClassOf 'inherited ichthyosis' http://purl.obolibrary.org/obo/MONDO_0000359 spondylocostal dysostosis 'spondylocostal dysostosis' SubClassOf 'dysostosis of genetic origin' 'spondylocostal dysostosis' SubClassOf 'genetic disorder' 'spondylocostal dysostosis' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0000179 Neu-Laxova syndrome 'Neu-Laxova syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'Neu-Laxova syndrome' SubClassOf 'syndromic disease' 'Neu-Laxova syndrome' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0000171 muscular dystrophy-dystroglycanopathy, type A 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'qualitative or quantitative defects of FKRP' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'cobblestone lissencephaly' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'congenital vitreoretinal dysplasia' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'qualitative or quantitative defects of protein O-mannosyltransferase 1' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'myopathy caused by variation in FKRP' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'qualitative or quantitative defects of protein O-mannosyltransferase 2' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'myopathy caused by variation in POMGNT1' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'disorder of O-mannosylglycan synthesis' http://purl.obolibrary.org/obo/MONDO_0700117 SLC6A3-related dopamine transporter deficiency syndrome 'SLC6A3-related dopamine transporter deficiency syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0700116 microcephaly with lissencephaly and/or hydranencephaly 'microcephaly with lissencephaly and/or hydranencephaly' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0000181 microcephaly and chorioretinopathy 'microcephaly and chorioretinopathy' SubClassOf 'hereditary cerebral malformation' http://purl.obolibrary.org/obo/MONDO_0000193 cortisone reductase deficiency 'cortisone reductase deficiency' SubClassOf 'anomaly of puberty or/and menstrual cycle of genetic origin' 'cortisone reductase deficiency' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0007474 Roseolovirus infectious disease 'Roseolovirus infectious disease' SubClassOf 'Herpesviridae infectious disease' 'Roseolovirus infectious disease' SubClassOf 'primary viral infectious disease' http://purl.obolibrary.org/obo/MONDO_0014805 Hao-Fountain syndrome 'Hao-Fountain syndrome' SubClassOf 'Neurodevelopmental disorder' 'Hao-Fountain syndrome' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0014801 even-plus syndrome 'even-plus syndrome' SubClassOf 'syndromic anorectal malformation' 'even-plus syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014816 split-foot malformation-mesoaxial polydactyly syndrome 'split-foot malformation-mesoaxial polydactyly syndrome' SubClassOf 'ectrodactyly with and without other manifestations' 'split-foot malformation-mesoaxial polydactyly syndrome' SubClassOf 'dysostosis of genetic origin' 'split-foot malformation-mesoaxial polydactyly syndrome' SubClassOf 'genetic disorder' 'split-foot malformation-mesoaxial polydactyly syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0014847 spermatogenic failure 15 'spermatogenic failure 15' SubClassOf 'male infertility with azoospermia or oligozoospermia due to single gene mutation' http://purl.obolibrary.org/obo/MONDO_0700080 EPHB4-associated vascular malformation spectrum 'EPHB4-associated vascular malformation spectrum' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0700068 myopathy caused by variation in POMGNT1 'myopathy caused by variation in POMGNT1' SubClassOf 'qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase' 'myopathy caused by variation in POMGNT1' SubClassOf 'congenital nervous system disorder' 'myopathy caused by variation in POMGNT1' SubClassOf 'disorder of protein O-glycosylation' http://purl.obolibrary.org/obo/MONDO_0700066 myopathy caused by variation in FKRP 'myopathy caused by variation in FKRP' SubClassOf 'qualitative or quantitative defects of fukutin' 'myopathy caused by variation in FKRP' SubClassOf 'disorder of protein O-glycosylation' http://purl.obolibrary.org/obo/MONDO_0014873 nevus comedonicus syndrome 'nevus comedonicus syndrome' SubClassOf 'inherited skin tumor' 'nevus comedonicus syndrome' SubClassOf 'bearer_of' some 'rare' 'nevus comedonicus syndrome' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0014878 patent ductus arteriosus 2 'patent ductus arteriosus 2' SubClassOf 'familial patent arterial duct' 'patent ductus arteriosus 2' SubClassOf 'congenital heart disease' 'patent ductus arteriosus 2' SubClassOf 'vascular disease' 'patent ductus arteriosus 2' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 'severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0700044 TUBB2A-related tubulinopathy 'TUBB2A-related tubulinopathy' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0014899 adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency 'adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency' SubClassOf 'multiple mitochondrial DNA deletion syndrome' http://purl.obolibrary.org/obo/MONDO_0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf 'dysostosis with predominant vertebral with and without costal involvement' http://purl.obolibrary.org/obo/MONDO_0700002 ATP1A3-associated neurological disorder 'ATP1A3-associated neurological disorder' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0007371 Miller Fisher syndrome 'Miller Fisher syndrome' SubClassOf 'regional variant of Guillain-Barre syndrome' 'Miller Fisher syndrome' SubClassOf 'syndromic disease' 'Miller Fisher syndrome' SubClassOf 'Guillain-Barre syndrome' http://www.ebi.ac.uk/efo/EFO_0007358 Marburg hemorrhagic fever 'Marburg hemorrhagic fever' SubClassOf 'Filoviridae infectious disease' http://purl.obolibrary.org/obo/OBA_2041767 level of aspartate aminotransferase, mitochondrial in blood serum 'level of aspartate aminotransferase, mitochondrial in blood serum' SubClassOf 'inheres in' some ('aspartate aminotransferase, mitochondrial' and ('part of' some 'anatomical entity')) http://purl.obolibrary.org/obo/MONDO_0014702 autosomal recessive complex spastic paraplegia type 9B 'autosomal recessive complex spastic paraplegia type 9B' SubClassOf 'autosomal recessive complex spastic paraplegia' 'autosomal recessive complex spastic paraplegia type 9B' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014700 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation' SubClassOf 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation' SubClassOf 'Mendelian neurodevelopmental disorder' 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation' SubClassOf 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 'primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 'progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf 'neuro-ophthalmological disease' 'progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf 'syndromic disease' 'progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf 'bearer_of' some 'rare' 'progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014720 autosomal dominant optic atrophy plus syndrome 'autosomal dominant optic atrophy plus syndrome' SubClassOf 'autosomal dominant hereditary axonal motor and sensory neuropathy' 'autosomal dominant optic atrophy plus syndrome' SubClassOf 'multiple mitochondrial DNA deletion syndrome' 'autosomal dominant optic atrophy plus syndrome' SubClassOf 'mitochondrial disease' http://purl.obolibrary.org/obo/MONDO_0014723 PMP22-RAI1 contiguous gene duplication syndrome 'PMP22-RAI1 contiguous gene duplication syndrome' SubClassOf 'autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'PMP22-RAI1 contiguous gene duplication syndrome' SubClassOf 'genetic disorder' 'PMP22-RAI1 contiguous gene duplication syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014722 Roifman syndrome 'Roifman syndrome' SubClassOf 'immunodeficiency predominantly affecting antibody production' 'Roifman syndrome' SubClassOf 'syndromic disease' 'Roifman syndrome' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0014731 seizures-scoliosis-macrocephaly syndrome 'seizures-scoliosis-macrocephaly syndrome' SubClassOf 'disorder of O-xylosylglycan synthesis' 'seizures-scoliosis-macrocephaly syndrome' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome 'familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf 'congenital nervous system disorder' 'familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf 'developmental defect of the eye' 'familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf 'bearer_of' some 'congenital' 'familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf 'syndromic disease' 'familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf 'genetic disorder' 'familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf 'disorder of visual system' http://purl.obolibrary.org/obo/MONDO_0014741 DeSanto-Shinawi syndrome due to WAC point mutation 'DeSanto-Shinawi syndrome due to WAC point mutation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 'acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome' SubClassOf 'hereditary parenchymatous liver disease' 'acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0000107 auriculocondylar syndrome 'auriculocondylar syndrome' SubClassOf 'branchial arch or oral-acral syndrome' http://purl.obolibrary.org/obo/MONDO_0000110 bifid nose 'bifid nose' SubClassOf 'hereditary otorhinolaryngological malformation' 'bifid nose' SubClassOf 'nose and cavum anomaly' 'bifid nose' SubClassOf 'median facial cleft' 'bifid nose' SubClassOf 'otorhinolaryngologic disease' 'bifid nose' SubClassOf 'facial cleft' http://purl.obolibrary.org/obo/MONDO_0014753 autosomal recessive optic atrophy 'autosomal recessive optic atrophy' SubClassOf 'hereditary optic neuropathy' 'autosomal recessive optic atrophy' SubClassOf 'eye degenerative disorder' 'autosomal recessive optic atrophy' SubClassOf 'autosomal recessive disease' 'autosomal recessive optic atrophy' SubClassOf 'hereditary optic atrophy' 'autosomal recessive optic atrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 'palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'lymphatic malformation' 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'syndromic lymphedema' 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome 'spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf 'autosomal recessive complex spastic paraplegia' 'spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0000136 keratosis follicularis spinulosa decalvans 'keratosis follicularis spinulosa decalvans' SubClassOf 'secondary ectropion' 'keratosis follicularis spinulosa decalvans' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome 'cardiac anomalies - developmental delay - facial dysmorphism syndrome' SubClassOf 'hereditary cardiac anomaly' 'cardiac anomalies - developmental delay - facial dysmorphism syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 'severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000153 transposition of the great arteries 'transposition of the great arteries' SubClassOf 'transposition of the great arteries and conotruncal cardiac anomaly' 'transposition of the great arteries' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0014791 Luscan-Lumish syndrome 'Luscan-Lumish syndrome' SubClassOf 'overgrowth or tall stature syndrome with skeletal involvement' 'Luscan-Lumish syndrome' SubClassOf 'syndromic disease' 'Luscan-Lumish syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 'mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency' SubClassOf 'Leigh syndrome with leukodystrophy' 'mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency' SubClassOf 'genetic disorder' 'mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency' SubClassOf 'mitochondrial disease' http://purl.obolibrary.org/obo/MONDO_0014568 hereditary spastic paraplegia 73 'hereditary spastic paraplegia 73' SubClassOf 'autosomal dominant pure spastic paraplegia' 'hereditary spastic paraplegia 73' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014567 glutamate pyruvate transaminase 2 deficiency 'glutamate pyruvate transaminase 2 deficiency' SubClassOf 'autosomal recessive complex spastic paraplegia' 'glutamate pyruvate transaminase 2 deficiency' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 'peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome' SubClassOf 'isolated punctate palmoplantar keratoderma' 'peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome' SubClassOf 'inherited non-syndromic ichthyosis' 'peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome' SubClassOf 'genetic disorder' 'peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome' SubClassOf 'syndromic disease' 'peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome' SubClassOf 'integumentary system disease' http://www.orpha.net/ORDO/Orphanet_163631 Bile acid synthesis defect with cholestasis and malabsorption 'Bile acid synthesis defect with cholestasis and malabsorption' SubClassOf 'hereditary biliary tract disease' 'Bile acid synthesis defect with cholestasis and malabsorption' SubClassOf 'biliary tract disease' http://purl.obolibrary.org/obo/MONDO_0014608 mandibulofacial dysostosis with alopecia 'mandibulofacial dysostosis with alopecia' SubClassOf 'dysostosis with predominant craniofacial involvement' 'mandibulofacial dysostosis with alopecia' SubClassOf 'hereditary alopecia' 'mandibulofacial dysostosis with alopecia' SubClassOf 'dysostosis of genetic origin' 'mandibulofacial dysostosis with alopecia' SubClassOf 'integumentary system disease' 'mandibulofacial dysostosis with alopecia' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000005 alopecia, isolated 'alopecia, isolated' SubClassOf 'hereditary alopecia' 'alopecia, isolated' SubClassOf 'alopecia' 'alopecia, isolated' SubClassOf 'hereditary skin disorder' 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 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014644 hereditary spastic paraplegia 74 'hereditary spastic paraplegia 74' SubClassOf 'spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' 'hereditary spastic paraplegia 74' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014659 infantile liver failure syndrome 2 'infantile liver failure syndrome 2' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0000023 infantile liver failure 'infantile liver failure' SubClassOf 'hereditary parenchymatous liver disease' 'infantile liver failure' SubClassOf 'genetic disorder' 'infantile liver failure' SubClassOf 'liver failure' http://purl.obolibrary.org/obo/MONDO_0014662 congenital insensitivity to pain-hypohidrosis syndrome 'congenital insensitivity to pain-hypohidrosis syndrome' SubClassOf 'autosomal recessive hereditary sensory and autonomic neuropathy' 'congenital insensitivity to pain-hypohidrosis syndrome' SubClassOf 'hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0014449 congenital analbuminemia 'congenital analbuminemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0700225 hereditary gallbladder disorder 'hereditary gallbladder disorder' SubClassOf 'hereditary biliary tract disease' 'hereditary gallbladder disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014474 autosomal recessive limb-girdle muscular dystrophy type 2U 'autosomal recessive limb-girdle muscular dystrophy type 2U' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'autosomal recessive limb-girdle muscular dystrophy type 2U' SubClassOf 'disorder of O-mannosylglycan synthesis' 'autosomal recessive limb-girdle muscular dystrophy type 2U' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100530 http://purl.obolibrary.org/obo/MONDO_0014489 limb-girdle muscular dystrophy due to POMK deficiency 'limb-girdle muscular dystrophy due to POMK deficiency' SubClassOf 'disorder of O-mannosylglycan synthesis' http://purl.obolibrary.org/obo/MONDO_0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 'congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'immunodeficiency predominantly affecting antibody production' 'congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'immune system disease' 'congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014482 intellectual disability, autosomal dominant 29 'intellectual disability, autosomal dominant 29' SubClassOf 'intellectual disability-expressive aphasia-facial dysmorphism syndrome' 'intellectual disability, autosomal dominant 29' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014497 polyendocrine-polyneuropathy syndrome 'polyendocrine-polyneuropathy syndrome' SubClassOf 'autosomal recessive hereditary demyelinating motor and sensory neuropathy' 'polyendocrine-polyneuropathy syndrome' SubClassOf 'syndromic hypothyroidism' 'polyendocrine-polyneuropathy syndrome' SubClassOf 'congenital nervous system disorder' 'polyendocrine-polyneuropathy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency 'ketoacidosis due to monocarboxylate transporter-1 deficiency' SubClassOf 'disorder of ketone body transport' 'ketoacidosis due to monocarboxylate transporter-1 deficiency' SubClassOf 'disorder of fatty acid and ketone body metabolism' http://purl.obolibrary.org/obo/MONDO_0014507 Catel-Manzke syndrome 'Catel-Manzke syndrome' SubClassOf 'dysostosis with brachydactyly with extraskeletal manifestations' 'Catel-Manzke syndrome' SubClassOf 'skeletal dysplasia' http://www.ebi.ac.uk/efo/EFO_0007502 subacute sclerosing panencephalitis 'subacute sclerosing panencephalitis' SubClassOf 'chronic encephalitis' http://purl.obolibrary.org/obo/MONDO_0014518 platelet-type bleeding disorder 19 'platelet-type bleeding disorder 19' SubClassOf 'isolated hereditary giant platelet disorder' http://purl.obolibrary.org/obo/MONDO_0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation' SubClassOf 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome' 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation' SubClassOf 'intellectual disability, autosomal dominant' 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0014528 chronic atrial and intestinal dysrhythmia 'chronic atrial and intestinal dysrhythmia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014536 thrombocytopenia 5 'thrombocytopenia 5' SubClassOf 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' http://purl.obolibrary.org/obo/MONDO_0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect 'motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'syndromic genetic obesity' 'motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'bearer_of' some 'rare' 'motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014546 myopathy due to calsequestrin and SERCA1 protein overload 'myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf 'skeletal muscle disorder' 'myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf 'hereditary skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0009801 familial osteodysplasia, Anderson type 'familial osteodysplasia, Anderson type' SubClassOf 'dysostosis of genetic origin' 'familial osteodysplasia, Anderson type' SubClassOf 'disorder of development or morphogenesis' 'familial osteodysplasia, Anderson type' SubClassOf 'syndromic disease' 'familial osteodysplasia, Anderson type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009818 autosomal recessive osteopetrosis 3 'autosomal recessive osteopetrosis 3' SubClassOf 'primary renal tubular acidosis' http://purl.obolibrary.org/obo/MONDO_0010808 fatal familial insomnia 'fatal familial insomnia' SubClassOf 'inherited prion disease' 'fatal familial insomnia' SubClassOf 'inherited neurodegenerative disorder' 'fatal familial insomnia' SubClassOf 'prion disease' http://purl.obolibrary.org/obo/MONDO_0010803 Eiken syndrome 'Eiken syndrome' SubClassOf 'multiple metaphyseal dysplasia' 'Eiken syndrome' SubClassOf 'multiple epiphyseal dysplasia and pseudoachondroplasia' 'Eiken syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010829 CARASIL syndrome 'CARASIL syndrome' SubClassOf 'HTRA1-related cerebral small vessel disease' http://purl.obolibrary.org/obo/MONDO_0009839 progressive supranuclear palsy-parkinsonism syndrome 'progressive supranuclear palsy-parkinsonism syndrome' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0009832 pancreatic agenesis 'pancreatic agenesis' SubClassOf 'non-syndromic visceral malformation' 'pancreatic agenesis' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome 'atrioventricular defect-blepharophimosis-radial and anal defect syndrome' SubClassOf 'eyelids malposition disorder' 'atrioventricular defect-blepharophimosis-radial and anal defect syndrome' SubClassOf 'syndromic disease' 'atrioventricular defect-blepharophimosis-radial and anal defect syndrome' SubClassOf 'disorder of visual system' http://purl.obolibrary.org/obo/MONDO_0009849 hyperimmunoglobulinemia D with periodic fever 'hyperimmunoglobulinemia D with periodic fever' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'hyperimmunoglobulinemia D with periodic fever' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0009845 pelviscapular dysplasia 'pelviscapular dysplasia' SubClassOf 'non-syndromic limb reduction defect' 'pelviscapular dysplasia' SubClassOf 'non-syndromic limb reduction defect' 'pelviscapular dysplasia' SubClassOf 'dysostosis' 'pelviscapular dysplasia' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0010831 familial caudal dysgenesis 'familial caudal dysgenesis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009841 PEHO syndrome 'PEHO syndrome' SubClassOf 'syndromic lymphedema' 'PEHO syndrome' SubClassOf 'neurovascular disorder' 'PEHO syndrome' SubClassOf 'lymphatic malformation' 'PEHO syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009857 persistent Mullerian duct syndrome 'persistent Mullerian duct syndrome' SubClassOf '46,XY disorder of sex development of endocrine origin' http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome 'Imerslund-Grasbeck syndrome' SubClassOf 'intestinal disease due to vitamin absorption anomaly' 'Imerslund-Grasbeck syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010842 multiple cutaneous and mucosal venous malformations 'multiple cutaneous and mucosal venous malformations' SubClassOf 'hereditary vascular anomaly' 'multiple cutaneous and mucosal venous malformations' SubClassOf 'simple vascular malformation' 'multiple cutaneous and mucosal venous malformations' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome 'macrocephaly-spastic paraplegia-dysmorphism syndrome' SubClassOf 'pure or complex autosomal recessive spastic paraplegia' 'macrocephaly-spastic paraplegia-dysmorphism syndrome' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010850 Tessier number 4 facial cleft 'Tessier number 4 facial cleft' SubClassOf 'oblique facial cleft' http://purl.obolibrary.org/obo/MONDO_0009874 Rabson-Mendenhall syndrome 'Rabson-Mendenhall syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009872 Bjornstad syndrome 'Bjornstad syndrome' SubClassOf 'isolated genetic hair shaft abnormality' 'Bjornstad syndrome' SubClassOf 'hereditary epidermal appendage anomaly' http://purl.obolibrary.org/obo/MONDO_0009870 pili torti 'pili torti' SubClassOf 'isolated genetic hair shaft abnormality' 'pili torti' SubClassOf 'hair anomaly' http://purl.obolibrary.org/obo/MONDO_0010878 hereditary spastic paraplegia 6 'hereditary spastic paraplegia 6' SubClassOf 'pure or complex autosomal dominant spastic paraplegia' 'hereditary spastic paraplegia 6' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010877 Charcot-Marie-Tooth disease type 5 'Charcot-Marie-Tooth disease type 5' SubClassOf 'autosomal dominant hereditary axonal motor and sensory neuropathy' 'Charcot-Marie-Tooth disease type 5' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0009883 alpha-2-plasmin inhibitor deficiency 'alpha-2-plasmin inhibitor deficiency' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0010886 2q37 microdeletion syndrome '2q37 microdeletion syndrome' SubClassOf 'dysostosis with brachydactyly with extraskeletal manifestations' '2q37 microdeletion syndrome' SubClassOf 'dysostosis of genetic origin' '2q37 microdeletion syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0020211 syndromic keratoconus 'syndromic keratoconus' SubClassOf 'keratoconus' 'syndromic keratoconus' SubClassOf 'syndromic disease' 'syndromic keratoconus' EquivalentTo 'keratoconus' and ('bearer_of' some 'has a syndromic presentation') 'syndromic keratoconus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020210 syndromic hyperopia 'syndromic hyperopia' SubClassOf 'hyperopia' 'syndromic hyperopia' SubClassOf 'syndromic disease' 'syndromic hyperopia' EquivalentTo 'hyperopia' and ('bearer_of' some 'has a syndromic presentation') 'syndromic hyperopia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020219 corneogoniodysgenesis 'corneogoniodysgenesis' SubClassOf 'corneal disease' 'corneogoniodysgenesis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0010881 mesomelia-synostoses syndrome 'mesomelia-synostoses syndrome' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'mesomelia-synostoses syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0020216 secondary dysgenetic glaucoma 'secondary dysgenetic glaucoma' SubClassOf 'hereditary glaucoma' 'secondary dysgenetic glaucoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020215 syndromic corneal dystrophy 'syndromic corneal dystrophy' SubClassOf 'corneal dystrophy' 'syndromic corneal dystrophy' EquivalentTo 'corneal dystrophy' and ('bearer_of' some 'has a syndromic presentation') 'syndromic corneal dystrophy' SubClassOf 'syndromic disease' 'syndromic corneal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019213 cerebral organic aciduria 'cerebral organic aciduria' SubClassOf 'inborn organic aciduria' 'cerebral organic aciduria' SubClassOf 'brain disease' 'cerebral organic aciduria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0010891 lethal hemolytic anemia-genital anomalies syndrome 'lethal hemolytic anemia-genital anomalies syndrome' SubClassOf 'syndromic urogenital tract malformation' 'lethal hemolytic anemia-genital anomalies syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0020205 bulbar conjunctival dermoid or conjunctival dermolipoma 'bulbar conjunctival dermoid or conjunctival dermolipoma' SubClassOf 'conjunctival tumor' 'bulbar conjunctival dermoid or conjunctival dermolipoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019227 inborn disorder of glycerol metabolism 'inborn disorder of glycerol metabolism' SubClassOf 'glycerol metabolism disease' 'inborn disorder of glycerol metabolism' SubClassOf 'inborn carbohydrate metabolic disorder' 'inborn disorder of glycerol metabolism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020203 pigmented conjunctival lesion 'pigmented conjunctival lesion' SubClassOf 'Conjunctival Disorder' 'pigmented conjunctival lesion' SubClassOf 'bearer_of' some 'rare' 'pigmented conjunctival lesion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019224 inborn disorder of gamma-aminobutyric acid metabolism 'inborn disorder of gamma-aminobutyric acid metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'inborn disorder of gamma-aminobutyric acid metabolism' SubClassOf 'amino acid metabolism disease' 'inborn disorder of gamma-aminobutyric acid metabolism' SubClassOf 'inborn disorder of biogenic amine metabolism and transport' 'inborn disorder of gamma-aminobutyric acid metabolism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020235 lens size anomaly 'lens size anomaly' SubClassOf 'eye disease' 'lens size anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020238 inherited vitreous-retinal disease 'inherited vitreous-retinal disease' SubClassOf 'genetic disorder' 'inherited vitreous-retinal disease' SubClassOf 'bearer_of' some 'rare' 'inherited vitreous-retinal disease' SubClassOf 'retinopathy' 'inherited vitreous-retinal disease' SubClassOf 'vitreous body disease' 'inherited vitreous-retinal disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020237 lens shape anomaly 'lens shape anomaly' SubClassOf 'eye disease' 'lens shape anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020256 congenital trochlear nerve palsy 'congenital trochlear nerve palsy' SubClassOf 'fourth cranial nerve palsy' 'congenital trochlear nerve palsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020252 essential strabismus 'essential strabismus' SubClassOf 'neuro-ophthalmological disease' 'essential strabismus' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0019271 acrokeratoderma 'acrokeratoderma' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0020246 inherited vitreoretinopathy 'inherited vitreoretinopathy' SubClassOf 'inherited vitreous-retinal disease' 'inherited vitreoretinopathy' SubClassOf 'retinopathy' 'inherited vitreoretinopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0020240 syndromic retinitis pigmentosa 'syndromic retinitis pigmentosa' EquivalentTo 'retinitis pigmentosa' and ('bearer_of' some 'has a syndromic presentation') 'syndromic retinitis pigmentosa' SubClassOf 'syndromic disease' 'syndromic retinitis pigmentosa' SubClassOf 'retinitis pigmentosa' 'syndromic retinitis pigmentosa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019281 isolated genetic hair shaft abnormality 'isolated genetic hair shaft abnormality' SubClassOf 'hair anomaly' 'isolated genetic hair shaft abnormality' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019283 nail anomaly 'nail anomaly' SubClassOf 'nail disorder' 'nail anomaly' SubClassOf 'epidermal appendage anomaly' 'nail anomaly' SubClassOf 'nail disorder' http://purl.obolibrary.org/obo/MONDO_0020275 oculocutaneous or ocular albinism 'oculocutaneous or ocular albinism' SubClassOf 'eye disease' 'oculocutaneous or ocular albinism' SubClassOf 'bearer_of' some 'rare' 'oculocutaneous or ocular albinism' SubClassOf 'albinism' 'oculocutaneous or ocular albinism' SubClassOf http://www.w3.org/2002/07/owl#Thing 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 genetic defect in innate immunity' http://purl.obolibrary.org/obo/MONDO_0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive 'otospondylomegaepiphyseal dysplasia, autosomal recessive' SubClassOf 'type 11 collagen-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0019278 hair anomaly 'hair anomaly' SubClassOf 'epidermal appendage anomaly' 'hair anomaly' SubClassOf 'skin appendage disorder' http://purl.obolibrary.org/obo/MONDO_0019277 epidermal appendage anomaly 'epidermal appendage anomaly' SubClassOf 'skin appendage disorder' 'epidermal appendage anomaly' SubClassOf 'bearer_of' some 'rare' 'epidermal appendage anomaly' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0019292 dermis elastic tissue disorder 'dermis elastic tissue disorder' SubClassOf 'dermis disorder' 'dermis elastic tissue disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019286 sebaceous gland anomaly 'sebaceous gland anomaly' SubClassOf 'epidermal appendage anomaly' 'sebaceous gland anomaly' SubClassOf 'sebaceous gland disease' http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome 'ectodermal dysplasia syndrome' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0020293 ascending aorta anomaly 'ascending aorta anomaly' SubClassOf 'congenital anomaly of the great arteries' http://purl.obolibrary.org/obo/MONDO_0020292 congenital anomaly of the great arteries 'congenital anomaly of the great arteries' SubClassOf 'hereditary vascular anomaly' 'congenital anomaly of the great arteries' SubClassOf 'vascular anomaly' http://purl.obolibrary.org/obo/MONDO_0020290 familial atrioventricular septal defect 'familial atrioventricular septal defect' SubClassOf 'atrioventricular valve anomaly' 'familial atrioventricular septal defect' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0020295 congenital pulmonary veins anomaly 'congenital pulmonary veins anomaly' SubClassOf 'congenital anomaly of the great veins' http://purl.obolibrary.org/obo/MONDO_0020294 atrial defect and interatrial communication 'atrial defect and interatrial communication' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0020289 congenital tricuspid malformation 'congenital tricuspid malformation' SubClassOf 'atrioventricular valve anomaly' 'congenital tricuspid malformation' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0020288 atrioventricular valve anomaly 'atrioventricular valve anomaly' SubClassOf 'heart valve disease' 'atrioventricular valve anomaly' SubClassOf 'congenital heart malformation' 'atrioventricular valve anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020286 aortic malformation 'aortic malformation' SubClassOf 'aortic disease' 'aortic malformation' SubClassOf 'congenital anomaly of the great arteries' 'aortic malformation' SubClassOf 'transposition of the great arteries and conotruncal cardiac anomaly' 'aortic malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020285 transposition of the great arteries and conotruncal cardiac anomaly 'transposition of the great arteries and conotruncal cardiac anomaly' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0020284 heart position anomaly 'heart position anomaly' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency 'hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'hereditary skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0009703 myopathy with abnormal lipid metabolism 'myopathy with abnormal lipid metabolism' SubClassOf 'hereditary skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0009719 familial atrial myxoma 'familial atrial myxoma' SubClassOf 'inherited cardiac tumor' 'familial atrial myxoma' SubClassOf 'Heart neoplasm' 'familial atrial myxoma' SubClassOf 'genetic disorder' 'familial atrial myxoma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009717 Schwartz-Jampel syndrome 'Schwartz-Jampel syndrome' SubClassOf 'congenital nervous system disorder' 'Schwartz-Jampel syndrome' SubClassOf 'congenital myotonia' 'Schwartz-Jampel syndrome' SubClassOf 'perlecan-related bone disorder' 'Schwartz-Jampel syndrome' SubClassOf 'hereditary skeletal muscle disorder' 'Schwartz-Jampel syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009714 myosclerosis 'myosclerosis' SubClassOf 'hereditary skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0009712 congenital multicore myopathy with external ophthalmoplegia 'congenital multicore myopathy with external ophthalmoplegia' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010702 orofaciodigital syndrome I 'orofaciodigital syndrome I' SubClassOf 'dysostosis with predominant craniofacial involvement' http://purl.obolibrary.org/obo/MONDO_0010718 absent radius-anogenital anomalies syndrome 'absent radius-anogenital anomalies syndrome' SubClassOf 'dysostosis of genetic origin' 'absent radius-anogenital anomalies syndrome' SubClassOf 'dysostosis' 'absent radius-anogenital anomalies syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009728 nephronophthisis 1 'nephronophthisis 1' SubClassOf 'nephropathy-associated ciliopathy' 'nephronophthisis 1' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_0009727 atelosteogenesis type II 'atelosteogenesis type II' SubClassOf 'hereditary syndromic Pierre Robin syndrome' 'atelosteogenesis type II' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'atelosteogenesis type II' SubClassOf 'hereditary otorhinolaryngologic disease' 'atelosteogenesis type II' SubClassOf 'sulfation-related bone disorder' 'atelosteogenesis type II' SubClassOf 'bearer_of' some 'rare' 'atelosteogenesis type II' SubClassOf 'mineral metabolism disease' 'atelosteogenesis type II' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0009726 proteosome-associated autoinflammatory syndrome 'proteosome-associated autoinflammatory syndrome' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'proteosome-associated autoinflammatory syndrome' SubClassOf 'type 1 interferonopathy' 'proteosome-associated autoinflammatory syndrome' SubClassOf 'immune system disease' 'proteosome-associated autoinflammatory syndrome' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0010711 TARP syndrome 'TARP syndrome' SubClassOf 'hereditary syndromic Pierre Robin syndrome' 'TARP syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009735 Netherton syndrome 'Netherton syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'Netherton syndrome' SubClassOf 'inherited ichthyosis' 'Netherton syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009731 nephrosis-deafness-urinary tract-digital malformations syndrome 'nephrosis-deafness-urinary tract-digital malformations syndrome' SubClassOf 'syndromic urogenital tract malformation' 'nephrosis-deafness-urinary tract-digital malformations syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome 'Rett syndrome' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0010725 X-linked retinoschisis 'X-linked retinoschisis' SubClassOf 'non-syndromic developmental defect of the eye' http://purl.obolibrary.org/obo/MONDO_0010720 partial androgen insensitivity syndrome 'partial androgen insensitivity syndrome' SubClassOf 'hereditary 46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia 'hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'autosomal recessive hereditary sensory and autonomic neuropathy' 'hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'autosomal recessive complex spastic paraplegia' 'hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0009746 hereditary sensory and autonomic neuropathy type 4 'hereditary sensory and autonomic neuropathy type 4' SubClassOf 'autosomal recessive hereditary sensory and autonomic neuropathy' 'hereditary sensory and autonomic neuropathy type 4' SubClassOf 'hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0010733 hereditary spastic paraplegia 2 'hereditary spastic paraplegia 2' SubClassOf 'pure or complex X-linked spastic paraplegia' 'hereditary spastic paraplegia 2' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010743 thrombocytopenia 1 'thrombocytopenia 1' SubClassOf 'hereditary thrombocytopenia with normal platelets' 'thrombocytopenia 1' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome 'torticollis-keloids-cryptorchidism-renal dysplasia syndrome' SubClassOf 'syndromic urogenital tract malformation' 'torticollis-keloids-cryptorchidism-renal dysplasia syndrome' SubClassOf 'disorder of development or morphogenesis' 'torticollis-keloids-cryptorchidism-renal dysplasia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010747 X-linked dystonia-parkinsonism 'X-linked dystonia-parkinsonism' SubClassOf 'persistent combined dystonia' 'X-linked dystonia-parkinsonism' SubClassOf 'combined dystonia' http://purl.obolibrary.org/obo/MONDO_0009767 oculocerebral hypopigmentation syndrome, Cross type 'oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009764 ocular motor apraxia, Cogan type 'ocular motor apraxia, Cogan type' SubClassOf 'neuro-ophthalmological disease' 'ocular motor apraxia, Cogan type' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0010759 Wildervanck syndrome 'Wildervanck syndrome' SubClassOf 'dysostosis of genetic origin' 'Wildervanck syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'Wildervanck syndrome' SubClassOf 'Klippel-Feil syndrome' 'Wildervanck syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009760 Norman-Roberts syndrome 'Norman-Roberts syndrome' SubClassOf 'syndromic lymphedema' 'Norman-Roberts syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010750 ulnar hypoplasia-split foot syndrome 'ulnar hypoplasia-split foot syndrome' SubClassOf 'dysostosis of genetic origin' 'ulnar hypoplasia-split foot syndrome' SubClassOf 'dysostosis' 'ulnar hypoplasia-split foot syndrome' SubClassOf 'genetic disorder' 'ulnar hypoplasia-split foot syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010753 cardiac valvular dysplasia, X-linked 'cardiac valvular dysplasia, X-linked' SubClassOf 'hereditary cardiac anomaly' 'cardiac valvular dysplasia, X-linked' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010765 46,XY complete gonadal dysgenesis '46,XY complete gonadal dysgenesis' SubClassOf '46,XY disorder of gonadal development' '46,XY complete gonadal dysgenesis' SubClassOf 'hereditary 46,XY disorder of sex development' '46,XY complete gonadal dysgenesis' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0009776 spermatogenic failure 1 'spermatogenic failure 1' SubClassOf 'male infertility with azoospermia or oligozoospermia due to single gene mutation' http://purl.obolibrary.org/obo/MONDO_0009774 cloacal exstrophy 'cloacal exstrophy' SubClassOf 'syndromic urogenital tract malformation' 'cloacal exstrophy' SubClassOf 'syndromic anorectal malformation' 'cloacal exstrophy' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009771 oculotrichodysplasia 'oculotrichodysplasia' SubClassOf 'syndromic retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0009786 optic atrophy 6 'optic atrophy 6' SubClassOf 'autosomal recessive optic atrophy' 'optic atrophy 6' SubClassOf 'hereditary optic atrophy' http://purl.obolibrary.org/obo/MONDO_0010773 myopathy and diabetes mellitus 'myopathy and diabetes mellitus' SubClassOf 'monogenic diabetes' 'myopathy and diabetes mellitus' SubClassOf 'maternally-inherited mitochondrial myopathy' 'myopathy and diabetes mellitus' SubClassOf 'inborn mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0019107 Rh deficiency syndrome 'Rh deficiency syndrome' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0019101 retinal capillary malformation 'retinal capillary malformation' SubClassOf 'hereditary disorder of connective tissue' 'retinal capillary malformation' SubClassOf 'neurovascular malformation' 'retinal capillary malformation' SubClassOf 'connective tissue neoplasm' 'retinal capillary malformation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009798 Primrose syndrome 'Primrose syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010787 Kearns-Sayre syndrome 'Kearns-Sayre syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'Kearns-Sayre syndrome' SubClassOf 'syndromic disease' 'Kearns-Sayre syndrome' SubClassOf 'disorder of visual system' http://purl.obolibrary.org/obo/MONDO_0009792 ichthyosis-oral and digital anomalies syndrome 'ichthyosis-oral and digital anomalies syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'ichthyosis-oral and digital anomalies syndrome' SubClassOf 'syndromic disease' 'ichthyosis-oral and digital anomalies syndrome' SubClassOf 'inherited ichthyosis' http://purl.obolibrary.org/obo/MONDO_0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency 'mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'maternally-inherited mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy 'inherited retinal dystrophy' SubClassOf 'inherited vitreous-retinal disease' 'inherited retinal dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0020118 dense granule disease 'dense granule disease' SubClassOf 'syndromic constitutional thrombocytopenia' 'dense granule disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020117 alpha granule disease 'alpha granule disease' SubClassOf 'isolated hereditary giant platelet disorder' 'alpha granule disease' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0010786 chronic diarrhea with villous atrophy 'chronic diarrhea with villous atrophy' SubClassOf 'intractable diarrhea of infancy' 'chronic diarrhea with villous atrophy' SubClassOf 'bearer_of' some 'rare' 'chronic diarrhea with villous atrophy' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0010792 lethal infantile mitochondrial myopathy 'lethal infantile mitochondrial myopathy' SubClassOf 'maternally-inherited mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0019128 mullerian aplasia 'mullerian aplasia' SubClassOf 'uterovaginal malformation' 'mullerian aplasia' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0019126 intractable diarrhea of infancy 'intractable diarrhea of infancy' SubClassOf 'bearer_of' some 'rare' 'intractable diarrhea of infancy' SubClassOf 'intestinal disease' 'intractable diarrhea of infancy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019120 pili bifurcati 'pili bifurcati' SubClassOf 'isolated genetic hair shaft abnormality' 'pili bifurcati' SubClassOf 'hair anomaly' http://purl.obolibrary.org/obo/MONDO_0020135 pontocerebellar hypoplasia 'pontocerebellar hypoplasia' SubClassOf 'hereditary posterior fossa malformation' 'pontocerebellar hypoplasia' SubClassOf 'central nervous system malformation' 'pontocerebellar hypoplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0020134 cystic malformation of the posterior fossa 'cystic malformation of the posterior fossa' SubClassOf 'posterior fossa malformation' 'cystic malformation of the posterior fossa' SubClassOf 'central nervous system cystic malformation' 'cystic malformation of the posterior fossa' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0020133 posterior fossa malformation 'posterior fossa malformation' SubClassOf 'central nervous system malformation' 'posterior fossa malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020132 cranial nerve and nuclear aplasia 'cranial nerve and nuclear aplasia' SubClassOf 'central nervous system malformation' 'cranial nerve and nuclear aplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2556 Microphthalmia with linear skin defects syndrome 'Microphthalmia with linear skin defects syndrome' SubClassOf 'anophthalmia-microphthalmia syndrome' 'Microphthalmia with linear skin defects syndrome' SubClassOf http://www.ebi.ac.uk/efo/EFO_0700119 http://purl.obolibrary.org/obo/MONDO_0020131 malformation of the cerebellar hemispheres 'malformation of the cerebellar hemispheres' SubClassOf 'cerebellar malformation' http://purl.obolibrary.org/obo/MONDO_0020130 malformation of the cerebellar vermis 'malformation of the cerebellar vermis' SubClassOf 'cerebellar malformation' http://purl.obolibrary.org/obo/MONDO_0019138 bleeding diathesis due to a collagen receptor defect 'bleeding diathesis due to a collagen receptor defect' SubClassOf 'inherited blood coagulation disorder' 'bleeding diathesis due to a collagen receptor defect' SubClassOf 'inherited bleeding disorder, platelet-type' 'bleeding diathesis due to a collagen receptor defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019150 familial isolated restrictive cardiomyopathy 'familial isolated restrictive cardiomyopathy' SubClassOf 'familial restrictive cardiomyopathy' 'familial isolated restrictive cardiomyopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020125 acquired neuromuscular junction disease 'acquired neuromuscular junction disease' SubClassOf 'neuromuscular junction disease' 'acquired neuromuscular junction disease' SubClassOf 'bearer_of' some 'acquired' 'acquired neuromuscular junction disease' EquivalentTo 'neuromuscular junction disease' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0019149 cholesteryl ester storage disease 'cholesteryl ester storage disease' SubClassOf 'lysosomal acid lipase deficiency' 'cholesteryl ester storage disease' SubClassOf http://www.ebi.ac.uk/efo/EFO_0700022 http://purl.obolibrary.org/obo/MONDO_0019148 Wolman disease 'Wolman disease' SubClassOf 'lysosomal acid lipase deficiency' 'Wolman disease' SubClassOf http://www.ebi.ac.uk/efo/EFO_0700022 http://purl.obolibrary.org/obo/MONDO_0020158 eyelids malposition disorder 'eyelids malposition disorder' SubClassOf 'bearer_of' some 'rare' 'eyelids malposition disorder' SubClassOf 'eyelid disease' 'eyelids malposition disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020157 syndromic palpebral coloboma 'syndromic palpebral coloboma' SubClassOf 'eyelid border anomaly' 'syndromic palpebral coloboma' SubClassOf 'syndromic disease' 'syndromic palpebral coloboma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020156 syndromic ankyloblepharon 'syndromic ankyloblepharon' SubClassOf 'eyelid border anomaly' 'syndromic ankyloblepharon' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020155 eyelid border anomaly 'eyelid border anomaly' SubClassOf 'eyelid disease' 'eyelid border anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020154 microblepharon-ablephara syndrome 'microblepharon-ablephara syndrome' SubClassOf 'eyelid disease' 'microblepharon-ablephara syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020159 congenital entropion 'congenital entropion' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0019154 androgen insensitivity syndrome 'androgen insensitivity syndrome' SubClassOf '46,XY disorder of sex development of endocrine origin' 'androgen insensitivity syndrome' SubClassOf 'genetic disorder' 'androgen insensitivity syndrome' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0019156 angioosteohypotrophic syndrome 'angioosteohypotrophic syndrome' SubClassOf 'congenital vascular bone syndrome' 'angioosteohypotrophic syndrome' SubClassOf 'syndromic disease' 'angioosteohypotrophic syndrome' SubClassOf 'bone development disease' http://purl.obolibrary.org/obo/MONDO_0019172 aniridia 'aniridia' SubClassOf 'major induction processes eye anomaly' 'aniridia' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0020147 anophthalmia-microphthalmia syndrome 'anophthalmia-microphthalmia syndrome' SubClassOf 'major induction processes eye anomaly' 'anophthalmia-microphthalmia syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020146 major induction processes eye anomaly 'major induction processes eye anomaly' SubClassOf 'developmental defect of the eye' 'major induction processes eye anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye 'developmental defect of the eye' SubClassOf 'developmental defect during embryogenesis' 'developmental defect of the eye' SubClassOf 'bearer_of' some 'rare' 'developmental defect of the eye' SubClassOf 'eye disease' 'developmental defect of the eye' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020144 cerebrovascular dementia 'cerebrovascular dementia' SubClassOf 'bearer_of' some 'rare' 'cerebrovascular dementia' SubClassOf 'dementia' 'cerebrovascular dementia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020148 syndromic aniridia 'syndromic aniridia' SubClassOf 'syndromic disease' 'syndromic aniridia' EquivalentTo 'aniridia' and ('bearer_of' some 'has a syndromic presentation') 'syndromic aniridia' SubClassOf 'iridogoniodysgenesis' 'syndromic aniridia' SubClassOf 'aniridia' 'syndromic aniridia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019164 6q terminal deletion syndrome '6q terminal deletion syndrome' SubClassOf 'syndromic anorectal malformation' '6q terminal deletion syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia 'hereditary hemorrhagic telangiectasia' SubClassOf 'neurovascular disorder' 'hereditary hemorrhagic telangiectasia' SubClassOf 'neurovascular malformation' 'hereditary hemorrhagic telangiectasia' SubClassOf 'hereditary vascular anomaly' 'hereditary hemorrhagic telangiectasia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020179 palpebral nevus 'palpebral nevus' SubClassOf 'pigmented palpebral tumor' http://purl.obolibrary.org/obo/MONDO_0020178 palpebral lentiginosis 'palpebral lentiginosis' SubClassOf 'lentigo' 'palpebral lentiginosis' SubClassOf 'pigmented palpebral tumor' 'palpebral lentiginosis' SubClassOf 'palpebral epidermal tumor' 'palpebral lentiginosis' SubClassOf 'inherited skin tumor' 'palpebral lentiginosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020177 pigmented palpebral tumor 'pigmented palpebral tumor' SubClassOf 'eyelid neoplasm' 'pigmented palpebral tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020176 palpebral sebaceous gland tumor 'palpebral sebaceous gland tumor' SubClassOf 'sebaceous gland neoplasm' 'palpebral sebaceous gland tumor' SubClassOf 'eyelid neoplasm' 'palpebral sebaceous gland tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020174 precancerous lesion of palpebral epidermis 'precancerous lesion of palpebral epidermis' SubClassOf 'precancerous condition' 'precancerous lesion of palpebral epidermis' SubClassOf 'palpebral epidermal tumor' 'precancerous lesion of palpebral epidermis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2510 Micro syndrome 'Micro syndrome' SubClassOf 'anophthalmia-microphthalmia syndrome' 'Micro syndrome' SubClassOf http://www.ebi.ac.uk/efo/EFO_0700119 http://purl.obolibrary.org/obo/MONDO_0019176 trichorhinophalangeal syndrome type I or III 'trichorhinophalangeal syndrome type II' DisjointWith 'trichorhinophalangeal syndrome type I or III' 'trichorhinophalangeal syndrome type I or III' EquivalentTo 'trichorhinophalangeal syndrome type I' or 'trichorhinophalangeal syndrome, type III' 'trichorhinophalangeal syndrome type I or III' SubClassOf 'trichorhinophalangeal syndrome' 'trichorhinophalangeal syndrome type I or III' SubClassOf 'autosomal dominant disease' 'trichorhinophalangeal syndrome type I or III' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020161 congenital ectropion 'congenital ectropion' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0020160 secondary entropion 'secondary entropion' SubClassOf 'congenital entropion' 'secondary entropion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020167 malposition of external canthus 'malposition of external canthus' SubClassOf 'canthal anomaly' 'malposition of external canthus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020165 syndromic epicanthus 'syndromic epicanthus' SubClassOf 'syndromic disease' 'syndromic epicanthus' SubClassOf 'epicanthal fold' 'syndromic epicanthus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020164 epicanthal fold 'epicanthal fold' SubClassOf 'canthal anomaly' 'epicanthal fold' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020163 canthal anomaly 'canthal anomaly' SubClassOf 'eyelid disease' 'canthal anomaly' SubClassOf 'bearer_of' some 'rare' 'canthal anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020162 secondary ectropion 'secondary ectropion' SubClassOf 'eyelids malposition disorder' 'secondary ectropion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome 'Rubinstein-Taybi syndrome' SubClassOf 'dysostosis of genetic origin' 'Rubinstein-Taybi syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0020194 congenital alacrima 'congenital alacrima' SubClassOf 'bearer_of' some 'congenital' 'congenital alacrima' SubClassOf 'secretory apparatus of the lacrimal system anomaly' 'congenital alacrima' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020193 secretory apparatus of the lacrimal system anomaly 'secretory apparatus of the lacrimal system anomaly' SubClassOf 'bearer_of' some 'rare' 'secretory apparatus of the lacrimal system anomaly' SubClassOf 'lacrimal apparatus disease' 'secretory apparatus of the lacrimal system anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020197 EEC syndrome and related syndrome 'EEC syndrome and related syndrome' SubClassOf 'anomaly of the secretory and excretory apparatus of the lacrimal system' 'EEC syndrome and related syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'EEC syndrome and related syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020196 anomaly of the secretory and excretory apparatus of the lacrimal system 'anomaly of the secretory and excretory apparatus of the lacrimal system' SubClassOf 'bearer_of' some 'rare' 'anomaly of the secretory and excretory apparatus of the lacrimal system' SubClassOf 'lacrimal apparatus disease' 'anomaly of the secretory and excretory apparatus of the lacrimal system' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020195 excretory apparatus of the lacrimal system anomaly 'excretory apparatus of the lacrimal system anomaly' SubClassOf 'bearer_of' some 'rare' 'excretory apparatus of the lacrimal system anomaly' SubClassOf 'lacrimal apparatus disease' 'excretory apparatus of the lacrimal system anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020181 mesenchymatous palpebral tumor 'mesenchymatous palpebral tumor' SubClassOf 'eyelid neoplasm' 'mesenchymatous palpebral tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020180 palpebral piliary tumor 'palpebral piliary tumor' SubClassOf 'eyelid neoplasm' 'palpebral piliary tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_2542 Isolated anophthalmia - microphthalmia 'Isolated anophthalmia - microphthalmia' SubClassOf 'anophthalmia-microphthalmia syndrome' 'Isolated anophthalmia - microphthalmia' SubClassOf http://www.ebi.ac.uk/efo/EFO_0700119 http://www.ebi.ac.uk/efo/EFO_1001383 Opsoclonus-Myoclonus Syndrome 'Opsoclonus-Myoclonus Syndrome' SubClassOf 'brain inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0009616 microcephalic primordial dwarfism, Toriello type 'microcephalic primordial dwarfism, Toriello type' SubClassOf 'microcephalic primordial dwarfism' 'microcephalic primordial dwarfism, Toriello type' SubClassOf 'primordial dwarfism and slender bone disorder' 'microcephalic primordial dwarfism, Toriello type' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010604 hemophilia B 'hemophilia B' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0009622 Jawad syndrome 'Jawad syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009620 Say-Barber-Miller syndrome 'Say-Barber-Miller syndrome' SubClassOf 'immunodeficiency predominantly affecting antibody production' 'Say-Barber-Miller syndrome' SubClassOf 'inborn error of immunity' 'Say-Barber-Miller syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010613 inborn glycerol kinase deficiency 'inborn glycerol kinase deficiency' SubClassOf 'inborn disorder of glycerol metabolism' 'inborn glycerol kinase deficiency' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0009635 microvillus inclusion disease 'microvillus inclusion disease' SubClassOf 'intractable diarrhea of infancy' 'microvillus inclusion disease' SubClassOf 'congenital enteropathy involving intestinal mucosa development' http://purl.obolibrary.org/obo/MONDO_0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 'microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010626 hyper-IgM syndrome type 1 'hyper-IgM syndrome type 1' SubClassOf 'hyper-IgM syndrome with susceptibility to opportunistic infections' 'hyper-IgM syndrome type 1' SubClassOf 'hyper-IgM syndrome' http://purl.obolibrary.org/obo/MONDO_0010621 CHILD syndrome 'CHILD syndrome' SubClassOf 'X-linked chondrodysplasia punctata' 'CHILD syndrome' SubClassOf 'inherited skin tumor' 'CHILD syndrome' SubClassOf 'hereditary skin disorder' 'CHILD syndrome' SubClassOf 'chondrodysplasia punctata' 'CHILD syndrome' SubClassOf 'sterol biosynthesis disorder' http://purl.obolibrary.org/obo/MONDO_0010649 isolated congenital megalocornea 'isolated congenital megalocornea' SubClassOf 'corneogoniodysgenesis' http://purl.obolibrary.org/obo/MONDO_0010641 X-linked diffuse leiomyomatosis-Alport syndrome 'X-linked diffuse leiomyomatosis-Alport syndrome' SubClassOf 'disease of glomerular basement membrane' 'X-linked diffuse leiomyomatosis-Alport syndrome' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3' SubClassOf 'myopathy caused by variation in POMGNT1' http://purl.obolibrary.org/obo/MONDO_0009666 holocarboxylase synthetase deficiency 'holocarboxylase synthetase deficiency' SubClassOf 'cerebral organic aciduria' http://purl.obolibrary.org/obo/MONDO_0009665 biotinidase deficiency 'biotinidase deficiency' SubClassOf 'cerebral organic aciduria' 'biotinidase deficiency' SubClassOf 'disorder of other vitamins and cofactors metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0010657 methylmalonic acidemia with homocystinuria, type cblX 'methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'cerebral organic aciduria' http://purl.obolibrary.org/obo/MONDO_0009670 lethal congenital contracture syndrome 1 'lethal congenital contracture syndrome 1' SubClassOf 'syndromic respiratory or mediastinal malformation' 'lethal congenital contracture syndrome 1' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009675 autosomal recessive limb-girdle muscular dystrophy type 2A 'autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'qualitative or quantitative defects of calpain' http://purl.obolibrary.org/obo/MONDO_0010668 skeletal dysplasia-intellectual disability syndrome 'skeletal dysplasia-intellectual disability syndrome' SubClassOf 'syndromic anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 'intellectual disability-hypotonic facies syndrome, X-linked, 1' SubClassOf 'ATR-X-related syndrome' 'intellectual disability-hypotonic facies syndrome, X-linked, 1' SubClassOf 'genetic disorder' 'intellectual disability-hypotonic facies syndrome, X-linked, 1' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010679 Duchenne muscular dystrophy 'Duchenne muscular dystrophy' SubClassOf 'dilated cardiomyopathy 3B' 'Duchenne muscular dystrophy' SubClassOf 'Duchenne and Becker muscular dystrophy' 'Duchenne muscular dystrophy' SubClassOf 'muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0009685 Miyoshi myopathy 'Miyoshi myopathy' SubClassOf 'autosomal recessive distal myopathy' 'Miyoshi myopathy' SubClassOf 'distal myopathy' http://purl.obolibrary.org/obo/MONDO_0010672 linear skin defects with multiple congenital anomalies 'linear skin defects with multiple congenital anomalies' SubClassOf 'hereditary mixed dermis disorder' 'linear skin defects with multiple congenital anomalies' SubClassOf 'syndromic anorectal malformation' 'linear skin defects with multiple congenital anomalies' SubClassOf 'mixed dermis disorder' 'linear skin defects with multiple congenital anomalies' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0019003 multiple endocrine neoplasia type 2 'multiple endocrine neoplasia type 2' SubClassOf 'inherited digestive cancer-predisposing syndrome' http://purl.obolibrary.org/obo/MONDO_0009694 myeloperoxidase deficiency 'myeloperoxidase deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010680 X-linked Emery-Dreifuss muscular dystrophy 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'qualitative or quantitative defects of emerin' http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation 'digestive tract malformation' SubClassOf 'developmental defect during embryogenesis' 'digestive tract malformation' SubClassOf 'bearer_of' some 'rare' 'digestive tract malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020018 cranial malformation 'cranial malformation' SubClassOf 'developmental defect during embryogenesis' 'cranial malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019016 maternally-inherited progressive external ophthalmoplegia 'maternally-inherited progressive external ophthalmoplegia' SubClassOf 'eyelids malposition disorder' 'maternally-inherited progressive external ophthalmoplegia' SubClassOf 'disorder of visual system' http://purl.obolibrary.org/obo/MONDO_0019011 Charcot-Marie-Tooth disease type 1 'Charcot-Marie-Tooth disease type 1' SubClassOf 'autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'Charcot-Marie-Tooth disease type 1' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0019010 congenital isolated hyperinsulinism 'congenital isolated hyperinsulinism' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0019012 Carpenter syndrome 'Carpenter syndrome' SubClassOf 'syndromic genetic obesity' http://purl.obolibrary.org/obo/MONDO_0019031 thrombocytopenia with congenital dyserythropoietic anemia 'thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'isolated hereditary giant platelet disorder' http://purl.obolibrary.org/obo/MONDO_0020039 46,XX disorder of sex development induced by androgens excess '46,XX disorder of sex development induced by androgens excess' SubClassOf '46,XX disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0019037 progressive supranuclear palsy 'progressive supranuclear palsy' SubClassOf 'eye degenerative disorder' 'progressive supranuclear palsy' SubClassOf 'bearer_of' some 'rare' 'progressive supranuclear palsy' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0019034 accessory pancreas 'accessory pancreas' SubClassOf 'non-syndromic visceral malformation' 'accessory pancreas' SubClassOf 'pancreas disease' http://purl.obolibrary.org/obo/MONDO_0020023 respiratory or mediastinal malformation 'respiratory or mediastinal malformation' SubClassOf 'developmental defect during embryogenesis' 'respiratory or mediastinal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020020 visceral malformation of the liver, biliary tract, pancreas or spleen 'visceral malformation of the liver, biliary tract, pancreas or spleen' SubClassOf 'bearer_of' some 'rare' 'visceral malformation of the liver, biliary tract, pancreas or spleen' SubClassOf 'developmental defect during embryogenesis' 'visceral malformation of the liver, biliary tract, pancreas or spleen' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019044 tumor of hematopoietic and lymphoid tissues 'tumor of hematopoietic and lymphoid tissues' SubClassOf 'hematopoietic and lymphoid system neoplasm' 'tumor of hematopoietic and lymphoid tissues' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019063 vascular anomaly 'vascular anomaly' SubClassOf 'vascular disease' 'vascular anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001286 Caroli Disease 'Caroli Disease' SubClassOf 'non-syndromic visceral malformation' 'Caroli Disease' SubClassOf 'hereditary biliary tract disease' 'Caroli Disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019091 bronchopulmonary dysplasia 'bronchopulmonary dysplasia' SubClassOf 'respiratory malformation' 'bronchopulmonary dysplasia' SubClassOf 'non-syndromic respiratory or mediastinal malformation' 'bronchopulmonary dysplasia' SubClassOf 'respiratory system disease' 'bronchopulmonary dysplasia' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0020069 chronic encephalitis 'chronic encephalitis' SubClassOf 'infectious encephalitis' http://purl.obolibrary.org/obo/MONDO_0020093 autosomal dominant isolated diffuse palmoplantar keratoderma 'autosomal dominant isolated diffuse palmoplantar keratoderma' SubClassOf 'isolated diffuse palmoplantar keratoderma' 'autosomal dominant isolated diffuse palmoplantar keratoderma' SubClassOf 'autosomal dominant disease' 'autosomal dominant isolated diffuse palmoplantar keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020096 autosomal recessive isolated diffuse palmoplantar keratoderma 'autosomal recessive isolated diffuse palmoplantar keratoderma' SubClassOf 'autosomal recessive disease' 'autosomal recessive isolated diffuse palmoplantar keratoderma' SubClassOf 'isolated diffuse palmoplantar keratoderma' 'autosomal recessive isolated diffuse palmoplantar keratoderma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020081 macrophage or histiocytic tumor 'macrophage or histiocytic tumor' SubClassOf 'Histiocytic and Dendritic Cell Neoplasm' http://purl.obolibrary.org/obo/MONDO_0020087 hereditary lipodystrophy 'hereditary lipodystrophy' SubClassOf 'primary lipodystrophy' http://www.ebi.ac.uk/efo/EFO_1001452 Yellow Nail Syndrome 'Yellow Nail Syndrome' SubClassOf 'syndromic lymphedema' 'Yellow Nail Syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1001486 primary biliary cirrhosis 'primary biliary cirrhosis' SubClassOf 'hereditary biliary tract disease' 'primary biliary cirrhosis' SubClassOf 'biliary tract disease' http://purl.obolibrary.org/obo/MONDO_0009507 Lambert syndrome 'Lambert syndrome' SubClassOf 'branchial arch or oral-acral syndrome' http://purl.obolibrary.org/obo/MONDO_0009506 specific granule deficiency 'specific granule deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009501 metabolic myopathy due to lactate transporter defect 'metabolic myopathy due to lactate transporter defect' SubClassOf 'hereditary skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0009516 absence deformity of leg-cataract syndrome 'absence deformity of leg-cataract syndrome' SubClassOf 'dysostosis of genetic origin' 'absence deformity of leg-cataract syndrome' SubClassOf 'genetic disorder' 'absence deformity of leg-cataract syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0009514 Laurence-Moon syndrome 'Laurence-Moon syndrome' SubClassOf 'congenital nervous system disorder' 'Laurence-Moon syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'Laurence-Moon syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'Laurence-Moon syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009513 laryngo-onycho-cutaneous syndrome 'laryngo-onycho-cutaneous syndrome' SubClassOf 'respiratory malformation' 'laryngo-onycho-cutaneous syndrome' SubClassOf 'syndromic respiratory or mediastinal malformation' 'laryngo-onycho-cutaneous syndrome' SubClassOf 'syndromic disease' 'laryngo-onycho-cutaneous syndrome' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0009511 Larsen-like syndrome, B3GAT3 type 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'disorder of O-xylosylglycan synthesis' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'primary bone dysplasia with multiple joint dislocations' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'congenital disorder of glycosylation-related bone disorder' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'skeletal dysplasia' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'congenital disorder of glycosylation' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0009529 pyruvate dehydrogenase E3 deficiency 'pyruvate dehydrogenase E3 deficiency' SubClassOf 'cerebral organic aciduria' http://purl.obolibrary.org/obo/MONDO_0009525 split hand-foot malformation 3 'split hand-foot malformation 3' SubClassOf 'ectrodactyly with and without other manifestations' http://www.ebi.ac.uk/efo/EFO_1001422 Sertoli Cell-Only Syndrome 'Sertoli Cell-Only Syndrome' SubClassOf 'male infertility with azoospermia or oligozoospermia due to single gene mutation' http://purl.obolibrary.org/obo/MONDO_0010519 alpha thalassemia-X-linked intellectual disability syndrome 'alpha thalassemia-X-linked intellectual disability syndrome' SubClassOf 'inherited hemoglobinopathy' 'alpha thalassemia-X-linked intellectual disability syndrome' SubClassOf 'hereditary 46,XY disorder of sex development' 'alpha thalassemia-X-linked intellectual disability syndrome' SubClassOf 'ATR-X-related syndrome' 'alpha thalassemia-X-linked intellectual disability syndrome' SubClassOf 'alpha-thalassemia-related diseases' 'alpha thalassemia-X-linked intellectual disability syndrome' SubClassOf '46,XY disorder of sex development' 'alpha thalassemia-X-linked intellectual disability syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010518 Wiskott-Aldrich syndrome 'Wiskott-Aldrich syndrome' SubClassOf 'dense granule disease' http://purl.obolibrary.org/obo/MONDO_0010524 X-linked sideroblastic anemia with ataxia 'X-linked sideroblastic anemia with ataxia' SubClassOf 'unspecified inborn mitochondrial disorder' 'X-linked sideroblastic anemia with ataxia' SubClassOf 'mitochondrial disease' http://purl.obolibrary.org/obo/MONDO_0010523 X-linked reticulate pigmentary disorder 'X-linked reticulate pigmentary disorder' SubClassOf 'syndromic corneal dystrophy' 'X-linked reticulate pigmentary disorder' SubClassOf 'skin disease' 'X-linked reticulate pigmentary disorder' SubClassOf 'type 1 interferonopathy' 'X-linked reticulate pigmentary disorder' SubClassOf 'hereditary skin disorder' 'X-linked reticulate pigmentary disorder' SubClassOf 'syndromic disease' 'X-linked reticulate pigmentary disorder' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009533 Dahlberg-Borer-Newcomer syndrome 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'syndromic lymphedema' http://purl.obolibrary.org/obo/MONDO_0010533 Arts syndrome 'Arts syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010545 Nance-Horan syndrome 'Nance-Horan syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009552 mal de Meleda 'mal de Meleda' SubClassOf 'autosomal recessive isolated diffuse palmoplantar keratoderma' 'mal de Meleda' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0009560 oculotrichoanal syndrome 'oculotrichoanal syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010542 dilated cardiomyopathy 3B 'dilated cardiomyopathy 3B' SubClassOf 'familial isolated dilated cardiomyopathy' 'dilated cardiomyopathy 3B' SubClassOf 'qualitative or quantitative defects of dystrophin' http://purl.obolibrary.org/obo/MONDO_0009568 mast syndrome 'mast syndrome' SubClassOf 'pure or complex autosomal recessive spastic paraplegia' 'mast syndrome' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0009567 Marinesco-Sjogren syndrome 'Marinesco-Sjogren syndrome' SubClassOf 'syndromic epicanthus' 'Marinesco-Sjogren syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010559 MASA syndrome 'MASA syndrome' SubClassOf 'X-linked complex spastic paraplegia' 'MASA syndrome' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010558 choroideremia-deafness-obesity syndrome 'choroideremia-deafness-obesity syndrome' SubClassOf 'syndromic genetic obesity' 'choroideremia-deafness-obesity syndrome' SubClassOf 'inherited retinal dystrophy' 'choroideremia-deafness-obesity syndrome' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0010554 Abruzzo-Erickson syndrome 'Abruzzo-Erickson syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Abruzzo-Erickson syndrome' SubClassOf 'syndromic disease' 'Abruzzo-Erickson syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010568 Aicardi syndrome 'Aicardi syndrome' SubClassOf 'neuro-ophthalmological disease' 'Aicardi syndrome' SubClassOf 'syndromic disease' 'Aicardi syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009578 neurocutaneous melanocytosis 'neurocutaneous melanocytosis' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'neurocutaneous melanocytosis' SubClassOf 'hereditary skin disorder' 'neurocutaneous melanocytosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010569 X-linked complicated corpus callosum dysgenesis 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009582 Mietens syndrome 'Mietens syndrome' SubClassOf 'syndromic corneal dystrophy' 'Mietens syndrome' SubClassOf 'bearer_of' some 'rare' 'Mietens syndrome' SubClassOf 'syndromic disease' 'Mietens syndrome' SubClassOf 'disorder of visual system' http://purl.obolibrary.org/obo/MONDO_0010562 colonic atresia 'colonic atresia' SubClassOf 'non-syndromic intestinal malformation' 'colonic atresia' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0010579 X-linked corneal dermoid 'X-linked corneal dermoid' SubClassOf 'syndromic corneal dystrophy' 'X-linked corneal dermoid' SubClassOf 'corneal disease' 'X-linked corneal dermoid' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome 'mesomelic dwarfism-cleft palate-camptodactyly syndrome' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'mesomelic dwarfism-cleft palate-camptodactyly syndrome' SubClassOf 'syndromic disease' 'mesomelic dwarfism-cleft palate-camptodactyly syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009588 Langer mesomelic dysplasia 'Langer mesomelic dysplasia' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'Langer mesomelic dysplasia' SubClassOf 'skeletal dysplasia' 'Langer mesomelic dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0023599 http://purl.obolibrary.org/obo/MONDO_0009592 metaphyseal acroscyphodysplasia 'metaphyseal acroscyphodysplasia' SubClassOf 'multiple metaphyseal dysplasia' 'metaphyseal acroscyphodysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010570 craniofrontonasal syndrome 'craniofrontonasal syndrome' SubClassOf 'dysostosis with predominant craniofacial involvement' 'craniofrontonasal syndrome' SubClassOf 'skeletal dysplasia' 'craniofrontonasal syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010589 Aarskog-Scott syndrome, X-linked 'Aarskog-Scott syndrome, X-linked' SubClassOf 'lymphatic malformation' 'Aarskog-Scott syndrome, X-linked' SubClassOf 'syndromic lymphedema' http://purl.obolibrary.org/obo/MONDO_0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 'metaphyseal dysostosis-intellectual disability-conductive deafness syndrome' SubClassOf 'multiple metaphyseal dysplasia' 'metaphyseal dysostosis-intellectual disability-conductive deafness syndrome' SubClassOf 'syndromic disease' 'metaphyseal dysostosis-intellectual disability-conductive deafness syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 'metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'multiple metaphyseal dysplasia' 'metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'osteochondrodysplasia' 'metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'skeletal dysplasia' 'metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009597 metaphyseal chondrodysplasia, Spahr type 'metaphyseal chondrodysplasia, Spahr type' SubClassOf 'multiple metaphyseal dysplasia' 'metaphyseal chondrodysplasia, Spahr type' SubClassOf 'skeletal dysplasia' 'metaphyseal chondrodysplasia, Spahr type' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0009595 cartilage-hair hypoplasia 'cartilage-hair hypoplasia' SubClassOf 'multiple metaphyseal dysplasia' 'cartilage-hair hypoplasia' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0009594 metaphyseal chondrodysplasia, Kaitila type 'metaphyseal chondrodysplasia, Kaitila type' SubClassOf 'multiple metaphyseal dysplasia' 'metaphyseal chondrodysplasia, Kaitila type' SubClassOf 'osteochondrodysplasia' 'metaphyseal chondrodysplasia, Kaitila type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 'immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'intractable diarrhea of infancy' 'immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001115 POEMS syndrome 'POEMS syndrome' SubClassOf 'chronic acquired demyelinating polyneuropathy' 'POEMS syndrome' SubClassOf 'acquired peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0009406 hypertrichotic osteochondrodysplasia Cantu type 'hypertrichotic osteochondrodysplasia Cantu type' SubClassOf 'dysostosis of genetic origin' 'hypertrichotic osteochondrodysplasia Cantu type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009404 hypertelorism, microtia, facial clefting syndrome 'hypertelorism, microtia, facial clefting syndrome' SubClassOf 'branchial arch or oral-acral syndrome' http://purl.obolibrary.org/obo/MONDO_0009402 acrofrontofacionasal dysostosis 2 'acrofrontofacionasal dysostosis 2' SubClassOf 'syndromic urogenital tract malformation' 'acrofrontofacionasal dysostosis 2' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy 'hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010402 syndromic X-linked intellectual disability 94 'syndromic X-linked intellectual disability 94' SubClassOf 'X-linked intellectual disability due to GRIA3 anomalies' 'syndromic X-linked intellectual disability 94' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome 'syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf 'syndromic anorectal malformation' 'syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010401 X-linked myopathy with postural muscle atrophy 'X-linked myopathy with postural muscle atrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' 'X-linked myopathy with postural muscle atrophy' SubClassOf 'X-linked Emery-Dreifuss muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0009425 hypomandibular faciocranial dysostosis 'hypomandibular faciocranial dysostosis' SubClassOf 'cranial malformation' http://purl.obolibrary.org/obo/MONDO_0010418 hereditary spastic paraplegia 34 'hereditary spastic paraplegia 34' SubClassOf 'X-linked pure spastic paraplegia' 'hereditary spastic paraplegia 34' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0009437 Bamforth-Lazarus syndrome 'Bamforth-Lazarus syndrome' SubClassOf 'syndromic hypothyroidism' 'Bamforth-Lazarus syndrome' SubClassOf 'genetic disorder' 'Bamforth-Lazarus syndrome' SubClassOf 'syndromic disease' 'Bamforth-Lazarus syndrome' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0009435 hypospadias-intellectual disability, Goldblatt type syndrome 'hypospadias-intellectual disability, Goldblatt type syndrome' SubClassOf 'syndromic urogenital tract malformation' 'hypospadias-intellectual disability, Goldblatt type syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome 'ichthyosis-intellectual disability-dwarfism-renal impairment syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'ichthyosis-intellectual disability-dwarfism-renal impairment syndrome' SubClassOf 'genetic disorder' 'ichthyosis-intellectual disability-dwarfism-renal impairment syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome 'ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome' SubClassOf 'autosomal ichthyosis syndrome' 'ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome 'ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome' SubClassOf 'autosomal ichthyosis syndrome' http://purl.obolibrary.org/obo/MONDO_0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive 'channelopathy-associated congenital insensitivity to pain, autosomal recessive' SubClassOf 'congenital nervous system disorder' 'channelopathy-associated congenital insensitivity to pain, autosomal recessive' SubClassOf 'autosomal recessive hereditary sensory and autonomic neuropathy' 'channelopathy-associated congenital insensitivity to pain, autosomal recessive' SubClassOf 'bearer_of' some 'congenital' 'channelopathy-associated congenital insensitivity to pain, autosomal recessive' SubClassOf 'syndromic disease' 'channelopathy-associated congenital insensitivity to pain, autosomal recessive' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome 'moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009452 Vici syndrome 'Vici syndrome' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'Vici syndrome' SubClassOf 'syndromic disease' 'Vici syndrome' SubClassOf 'immune system disease' 'Vici syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009451 Nezelof syndrome 'Nezelof syndrome' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' http://purl.obolibrary.org/obo/MONDO_0010441 CK syndrome 'CK syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'isolated hereditary giant platelet disorder' http://purl.obolibrary.org/obo/MONDO_0009465 multiple intestinal atresia 'multiple intestinal atresia' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'multiple intestinal atresia' SubClassOf 'non-syndromic intestinal malformation' 'multiple intestinal atresia' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0010456 renal cell carcinoma, Xp11-associated 'renal cell carcinoma, Xp11-associated' SubClassOf 'hereditary renal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0009476 atresia of small intestine 'atresia of small intestine' SubClassOf 'primary short bowel syndrome' 'atresia of small intestine' SubClassOf 'non-syndromic intestinal malformation' 'atresia of small intestine' SubClassOf 'small intestine disorder' 'atresia of small intestine' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0010460 syndromic X-linked intellectual disability 17 'syndromic X-linked intellectual disability 17' SubClassOf 'congenital nervous system disorder' 'syndromic X-linked intellectual disability 17' SubClassOf 'congenital alacrima' http://purl.obolibrary.org/obo/MONDO_0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009480 Joubert syndrome with oculorenal defect 'Joubert syndrome with oculorenal defect' SubClassOf 'developmental anomaly of metabolic origin' 'Joubert syndrome with oculorenal defect' SubClassOf 'syndromic retinitis pigmentosa' 'Joubert syndrome with oculorenal defect' SubClassOf 'disorder of visual system' 'Joubert syndrome with oculorenal defect' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type 'hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'autosomal recessive isolated diffuse palmoplantar keratoderma' 'hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0009485 oculocerebrofacial syndrome, Kaufman type 'oculocerebrofacial syndrome, Kaufman type' SubClassOf 'developmental defect of the eye' 'oculocerebrofacial syndrome, Kaufman type' SubClassOf 'syndromic disease' 'oculocerebrofacial syndrome, Kaufman type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'syndromic hypothyroidism' 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009498 lethal Kniest-like dysplasia 'lethal Kniest-like dysplasia' SubClassOf 'lethal chondrodysplasia' 'lethal Kniest-like dysplasia' SubClassOf 'osteochondrodysplasia' 'lethal Kniest-like dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009495 Keutel syndrome 'Keutel syndrome' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0010491 X-linked acrogigantism due to Xq26 microduplication 'X-linked acrogigantism due to Xq26 microduplication' SubClassOf 'familial infantile gigantism' http://www.ebi.ac.uk/efo/EFO_1001209 temporal arteritis 'temporal arteritis' SubClassOf 'predominantly large-vessel vasculitis' http://www.ebi.ac.uk/efo/EFO_1001211 thromboangiitis obliterans 'thromboangiitis obliterans' SubClassOf 'predominantly medium-vessel vasculitis' 'thromboangiitis obliterans' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_1001267 Aortic Coarctation 'Aortic Coarctation' SubClassOf 'aortic malformation' 'Aortic Coarctation' SubClassOf 'genetic disorder' 'Aortic Coarctation' SubClassOf 'congenital heart malformation' 'Aortic Coarctation' SubClassOf 'aortic disease' 'Aortic Coarctation' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0000904 complex cortical dysplasia with other brain malformations 'complex cortical dysplasia with other brain malformations' SubClassOf 'cancer or benign tumor' http://purl.obolibrary.org/obo/MONDO_0000903 myoclonus-dystonia syndrome 'myoclonus-dystonia syndrome' SubClassOf 'persistent combined dystonia' 'myoclonus-dystonia syndrome' SubClassOf 'primary myoclonus' 'myoclonus-dystonia syndrome' SubClassOf 'combined dystonia' http://purl.obolibrary.org/obo/MONDO_0000902 agenesis of the corpus callosum with peripheral neuropathy 'agenesis of the corpus callosum with peripheral neuropathy' SubClassOf 'neurodegenerative disease' 'agenesis of the corpus callosum with peripheral neuropathy' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0009306 combined immunodeficiency with skin granulomas 'combined immunodeficiency with skin granulomas' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009319 pantothenate kinase-associated neurodegeneration 'pantothenate kinase-associated neurodegeneration' SubClassOf 'syndromic retinitis pigmentosa' 'pantothenate kinase-associated neurodegeneration' SubClassOf 'eye degenerative disorder' 'pantothenate kinase-associated neurodegeneration' SubClassOf 'syndromic dyslipidemia' 'pantothenate kinase-associated neurodegeneration' SubClassOf 'disorder of other vitamins and cofactors metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0010311 Becker muscular dystrophy 'Becker muscular dystrophy' SubClassOf 'Duchenne and Becker muscular dystrophy' 'Becker muscular dystrophy' SubClassOf 'dilated cardiomyopathy 3B' 'Becker muscular dystrophy' SubClassOf 'muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0010310 osteopathia striata with cranial sclerosis 'osteopathia striata with cranial sclerosis' SubClassOf 'primary bone dysplasia with increased bone density' http://purl.obolibrary.org/obo/MONDO_0009338 hepatic veno-occlusive disease-immunodeficiency syndrome 'hepatic veno-occlusive disease-immunodeficiency syndrome' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'hepatic veno-occlusive disease-immunodeficiency syndrome' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0010328 alpha-thalassemia-myelodysplastic syndrome 'alpha-thalassemia-myelodysplastic syndrome' SubClassOf 'alpha-thalassemia-related diseases' 'alpha-thalassemia-myelodysplastic syndrome' SubClassOf 'syndromic disease' 'alpha-thalassemia-myelodysplastic syndrome' SubClassOf 'genetic disorder' 'alpha-thalassemia-myelodysplastic syndrome' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0010327 HSD10 mitochondrial disease 'HSD10 mitochondrial disease' SubClassOf 'cerebral organic aciduria' 'HSD10 mitochondrial disease' SubClassOf 'inborn mitochondrial metabolism disorder' 'HSD10 mitochondrial disease' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome 'mullerian derivatives-lymphangiectasia-polydactyly syndrome' SubClassOf 'syndromic lymphedema' 'mullerian derivatives-lymphangiectasia-polydactyly syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010338 X-linked distal spinal muscular atrophy type 3 'X-linked distal spinal muscular atrophy type 3' SubClassOf 'X-linked distal hereditary motor neuropathy' 'X-linked distal spinal muscular atrophy type 3' SubClassOf 'distal hereditary motor neuropathy' 'X-linked distal spinal muscular atrophy type 3' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome 'Hirschsprung disease-nail hypoplasia-dysmorphism syndrome' SubClassOf 'syndromic anorectal malformation' 'Hirschsprung disease-nail hypoplasia-dysmorphism syndrome' SubClassOf 'bearer_of' some 'rare' 'Hirschsprung disease-nail hypoplasia-dysmorphism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009342 Hirschsprung disease-hearing loss-polydactyly syndrome 'Hirschsprung disease-hearing loss-polydactyly syndrome' SubClassOf 'syndromic anorectal malformation' 'Hirschsprung disease-hearing loss-polydactyly syndrome' SubClassOf 'syndromic disease' 'Hirschsprung disease-hearing loss-polydactyly syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009341 Mowat-Wilson syndrome 'Mowat-Wilson syndrome' SubClassOf 'syndromic intestinal malformation' 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 'lethal multiple congenital anomalies/dysmorphic syndrome' 'multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'syndromic urogenital tract malformation' 'multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009362 growth delay-hydrocephaly-lung hypoplasia syndrome 'growth delay-hydrocephaly-lung hypoplasia syndrome' SubClassOf 'respiratory malformation' 'growth delay-hydrocephaly-lung hypoplasia syndrome' SubClassOf 'syndromic respiratory or mediastinal malformation' 'growth delay-hydrocephaly-lung hypoplasia syndrome' SubClassOf 'syndromic disease' 'growth delay-hydrocephaly-lung hypoplasia syndrome' SubClassOf 'respiratory system disease' 'growth delay-hydrocephaly-lung hypoplasia syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009367 McKusick-Kaufman syndrome 'McKusick-Kaufman syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009384 Leydig cell hypoplasia, type 1 'Leydig cell hypoplasia, type 1' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010367 SHOX-related short stature 'SHOX-related short stature' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'SHOX-related short stature' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009387 familial lipoprotein lipase deficiency 'familial lipoprotein lipase deficiency' SubClassOf 'syndromic dyslipidemia' http://www.ebi.ac.uk/efo/EFO_1001164 SAPHO syndrome 'SAPHO syndrome' SubClassOf 'pyogenic autoinflammatory syndrome' 'SAPHO syndrome' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0009395 hyperostosis corticalis generalisata 'hyperostosis corticalis generalisata' SubClassOf 'primary bone dysplasia with increased bone density' 'hyperostosis corticalis generalisata' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009394 juvenile Paget disease 'juvenile Paget disease' SubClassOf 'primary bone dysplasia with increased bone density' http://purl.obolibrary.org/obo/MONDO_0010383 fragile X syndrome 'fragile X syndrome' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_136 CADASIL 'CADASIL' SubClassOf 'hereditary neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0000845 fibrous dysplasia 'fibrous dysplasia' SubClassOf 'fibrous dysplasia/McCune-Albright syndrome' http://purl.obolibrary.org/obo/MONDO_0009209 autosomal recessive faciodigitogenital syndrome 'autosomal recessive faciodigitogenital syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009206 factor V and factor VIII, combined deficiency of, type 1 'factor V and factor VIII, combined deficiency of, type 1' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0009204 lethal faciocardiomelic dysplasia 'lethal faciocardiomelic dysplasia' SubClassOf 'dysostosis of genetic origin' 'lethal faciocardiomelic dysplasia' SubClassOf 'genetic disorder' 'lethal faciocardiomelic dysplasia' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0010204 lysosomal acid lipase deficiency 'lysosomal acid lipase deficiency' SubClassOf 'syndromic dyslipidemia' 'lysosomal acid lipase deficiency' SubClassOf 'lysosomal lipid storage disorder' 'lysosomal acid lipase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0009222 Gollop-Wolfgang complex 'Gollop-Wolfgang complex' SubClassOf 'non-syndromic limb reduction defect' 'Gollop-Wolfgang complex' SubClassOf 'non-syndromic limb reduction defect' 'Gollop-Wolfgang complex' SubClassOf 'dysostosis' 'Gollop-Wolfgang complex' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0009221 femur-fibula-ulna complex 'femur-fibula-ulna complex' SubClassOf 'congenital limb malformation' 'femur-fibula-ulna complex' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0009238 hereditary folate malabsorption 'hereditary folate malabsorption' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'hereditary folate malabsorption' SubClassOf 'intestinal disease due to vitamin absorption anomaly' 'hereditary folate malabsorption' SubClassOf 'malabsorption syndrome' http://purl.obolibrary.org/obo/MONDO_0009234 congenital high-molecular-weight kininogen deficiency 'congenital high-molecular-weight kininogen deficiency' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0009232 Fuhrmann syndrome 'Fuhrmann syndrome' SubClassOf 'non-syndromic limb reduction defect' 'Fuhrmann syndrome' SubClassOf 'dysostosis' 'Fuhrmann syndrome' SubClassOf 'congenital limb malformation' 'Fuhrmann syndrome' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0009231 acromesomelic dysplasia 2B 'acromesomelic dysplasia 2B' SubClassOf 'dysostosis of genetic origin' 'acromesomelic dysplasia 2B' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0010221 CHIME syndrome 'CHIME syndrome' SubClassOf 'developmental defect of the eye' 'CHIME syndrome' SubClassOf 'disorder of visual system' http://purl.obolibrary.org/obo/MONDO_0010224 corpus callosum agenesis-abnormal genitalia syndrome 'corpus callosum agenesis-abnormal genitalia syndrome' SubClassOf 'ARX-related encephalopathy-brain malformation spectrum' 'corpus callosum agenesis-abnormal genitalia syndrome' SubClassOf 'syndromic disease' 'corpus callosum agenesis-abnormal genitalia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009247 frontofacionasal dysplasia 'frontofacionasal dysplasia' SubClassOf 'median facial cleft' 'frontofacionasal dysplasia' SubClassOf 'syndromic palpebral coloboma' 'frontofacionasal dysplasia' SubClassOf 'branchial arch or oral-acral syndrome' 'frontofacionasal dysplasia' SubClassOf 'syndromic ankyloblepharon' 'frontofacionasal dysplasia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0034217 resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta 'resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta' SubClassOf 'thyroid hormone resistance syndrome' 'resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0010243 X-linked immunoneurologic disorder 'X-linked immunoneurologic disorder' SubClassOf 'immunodeficiency predominantly affecting antibody production' 'X-linked immunoneurologic disorder' SubClassOf 'inborn error of immunity' 'X-linked immunoneurologic disorder' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0009265 Gaucher disease type I 'Gaucher disease type I' SubClassOf 'avascular necrosis of genetic origin' 'Gaucher disease type I' SubClassOf 'osteonecrosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0009274 ghosal hematodiaphyseal dysplasia 'ghosal hematodiaphyseal dysplasia' SubClassOf 'primary bone dysplasia with increased bone density' 'ghosal hematodiaphyseal dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009272 German syndrome 'German syndrome' SubClassOf 'syndromic lymphedema' 'German syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0034204 syndromic congenital sodium diarrhea 'syndromic congenital sodium diarrhea' SubClassOf 'intractable diarrhea of infancy' http://purl.obolibrary.org/obo/MONDO_0009279 triple-A syndrome 'triple-A syndrome' SubClassOf 'congenital nervous system disorder' 'triple-A syndrome' SubClassOf 'hereditary peripheral neuropathy' 'triple-A syndrome' SubClassOf 'syndromic esophageal malformation' 'triple-A syndrome' SubClassOf 'congenital alacrima' 'triple-A syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009276 Bernard-Soulier syndrome 'Bernard-Soulier syndrome' SubClassOf 'isolated hereditary giant platelet disorder' http://purl.obolibrary.org/obo/MONDO_0010265 Simpson-Golabi-Behmel syndrome type 2 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009281 glutaryl-CoA dehydrogenase deficiency 'glutaryl-CoA dehydrogenase deficiency' SubClassOf 'cerebral organic aciduria' 'glutaryl-CoA dehydrogenase deficiency' SubClassOf 'inborn organic aciduria' 'glutaryl-CoA dehydrogenase deficiency' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0010269 Coats disease 'Coats disease' SubClassOf 'secondary dysgenetic glaucoma' 'Coats disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010268 X-linked lissencephaly with abnormal genitalia 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'ARX-related encephalopathy-brain malformation spectrum' 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010278 Christianson syndrome 'Christianson syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009299 46 XX gonadal dysgenesis '46 XX gonadal dysgenesis' SubClassOf 'hereditary 46,XX disorder of sex development' '46 XX gonadal dysgenesis' SubClassOf '46,XX disorder of gonadal development' http://purl.obolibrary.org/obo/MONDO_0010287 hereditary spastic paraplegia 16 'hereditary spastic paraplegia 16' SubClassOf 'pure or complex X-linked spastic paraplegia' 'hereditary spastic paraplegia 16' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome 'anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf 'syndromic lymphedema' http://purl.obolibrary.org/obo/MONDO_0010293 ectodermal dysplasia and immune deficiency 'ectodermal dysplasia and immune deficiency' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'ectodermal dysplasia and immune deficiency' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0010088 mucosulfatidosis 'mucosulfatidosis' SubClassOf 'syndromic dyslipidemia' 'mucosulfatidosis' SubClassOf 'autosomal ichthyosis syndrome' 'mucosulfatidosis' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0010082 subaortic stenosis-short stature syndrome 'subaortic stenosis-short stature syndrome' SubClassOf 'syndromic corneal dystrophy' 'subaortic stenosis-short stature syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0034099 SYNGAP1-related developmental and epileptic encephalopathy 'SYNGAP1-related developmental and epileptic encephalopathy' SubClassOf 'monogenic epilepsy' http://www.ebi.ac.uk/efo/EFO_1001010 Landau-Kleffner syndrome 'Landau-Kleffner syndrome' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0000722 non-syndromic synpolydactyly 'non-syndromic synpolydactyly' SubClassOf 'non-syndromic polydactyly' 'non-syndromic synpolydactyly' SubClassOf 'bearer_of' some 'has an isolated presentation' http://www.orpha.net/ORDO/Orphanet_2363 Lacrimoauriculodentodigital syndrome 'Lacrimoauriculodentodigital syndrome' SubClassOf 'EEC syndrome and related syndrome' http://purl.obolibrary.org/obo/MONDO_0000764 epithelial-stromal TGFBI dystrophy 'epithelial-stromal TGFBI dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009107 diastrophic dysplasia 'diastrophic dysplasia' SubClassOf 'sulfation-related bone disorder' 'diastrophic dysplasia' SubClassOf 'mineral metabolism disease' 'diastrophic dysplasia' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0009105 trichohepatoenteric syndrome 'trichohepatoenteric syndrome' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'trichohepatoenteric syndrome' SubClassOf 'hereditary disorder of connective tissue' 'trichohepatoenteric syndrome' SubClassOf 'type 1 interferonopathy' 'trichohepatoenteric syndrome' SubClassOf 'hereditary parenchymatous liver disease' 'trichohepatoenteric syndrome' SubClassOf 'intractable diarrhea of infancy' 'trichohepatoenteric syndrome' SubClassOf 'intestinal disease' 'trichohepatoenteric syndrome' SubClassOf 'bearer_of' some 'rare' 'trichohepatoenteric syndrome' SubClassOf 'syndromic disease' 'trichohepatoenteric syndrome' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0009120 diverticulosis of bowel, hernia, and retinal detachment 'diverticulosis of bowel, hernia, and retinal detachment' SubClassOf 'syndromic intestinal malformation' 'diverticulosis of bowel, hernia, and retinal detachment' SubClassOf 'syndromic disease' 'diverticulosis of bowel, hernia, and retinal detachment' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0010101 Teebi-Shaltout syndrome 'Teebi-Shaltout syndrome' SubClassOf 'dysostosis of genetic origin' 'Teebi-Shaltout syndrome' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0009126 duodenal atresia 'duodenal atresia' SubClassOf 'non-syndromic gastroduodenal malformation' 'duodenal atresia' SubClassOf 'non-syndromic intestinal malformation' 'duodenal atresia' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0009124 Dubowitz syndrome 'Dubowitz syndrome' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0009123 orthostatic hypotension 1 'orthostatic hypotension 1' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0009131 Riley-Day syndrome 'Riley-Day syndrome' SubClassOf 'autosomal recessive hereditary sensory and autonomic neuropathy' 'Riley-Day syndrome' SubClassOf 'genetic disorder' 'Riley-Day syndrome' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0010111 odontotrichomelic syndrome 'odontotrichomelic syndrome' SubClassOf 'GAPO syndrome' 'odontotrichomelic syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010110 tetraamelia-multiple malformations syndrome 'tetraamelia-multiple malformations syndrome' SubClassOf 'dysostosis of genetic origin' 'tetraamelia-multiple malformations syndrome' SubClassOf 'dysostosis' 'tetraamelia-multiple malformations syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009139 dyssegmental dysplasia, Rolland-Desbuquois type 'dyssegmental dysplasia, Rolland-Desbuquois type' SubClassOf 'perlecan-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0010120 thrombocytopenia 3 'thrombocytopenia 3' SubClassOf 'autosomal thrombocytopenia with normal platelets' 'thrombocytopenia 3' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0009140 Silverman-Handmaker type dyssegmental dysplasia 'Silverman-Handmaker type dyssegmental dysplasia' SubClassOf 'perlecan-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0010121 thrombocytopenia-absent radius syndrome 'thrombocytopenia-absent radius syndrome' SubClassOf 'dysostosis' 'thrombocytopenia-absent radius syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0010123 absent thumb-short stature-immunodeficiency syndrome 'absent thumb-short stature-immunodeficiency syndrome' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'absent thumb-short stature-immunodeficiency syndrome' SubClassOf 'genetic disorder' 'absent thumb-short stature-immunodeficiency syndrome' SubClassOf 'syndromic disease' 'absent thumb-short stature-immunodeficiency syndrome' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0010130 dihydropyrimidine dehydrogenase deficiency 'dihydropyrimidine dehydrogenase deficiency' SubClassOf 'osteochondrosis of genetic origin' 'dihydropyrimidine dehydrogenase deficiency' SubClassOf 'osteonecrosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome 'hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome' SubClassOf 'syndromic hypothyroidism' 'hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0010132 familial thyroid dyshormonogenesis 'familial thyroid dyshormonogenesis' SubClassOf 'primary congenital hypothyroidism' 'familial thyroid dyshormonogenesis' SubClassOf 'congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0010134 Pendred syndrome 'Pendred syndrome' SubClassOf 'syndromic hypothyroidism' 'Pendred syndrome' SubClassOf 'syndromic disease' 'Pendred syndrome' SubClassOf 'congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0010149 transcobalamin II deficiency 'transcobalamin II deficiency' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'transcobalamin II deficiency' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0009155 EEM syndrome 'EEM syndrome' SubClassOf 'dysostosis of genetic origin' 'EEM syndrome' SubClassOf 'ectrodactyly with and without other manifestations' 'EEM syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0010142 hypothyroidism due to TSH receptor mutations 'hypothyroidism due to TSH receptor mutations' SubClassOf 'primary congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0010140 isolated thyrotropin-releasing hormone deficiency 'isolated thyrotropin-releasing hormone deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009168 Fowler syndrome 'Fowler syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009173 congenital enteropathy due to enteropeptidase deficiency 'congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010156 Troyer syndrome 'Troyer syndrome' SubClassOf 'autosomal recessive complex spastic paraplegia' 'Troyer syndrome' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010159 mismatch repair cancer syndrome 1 'mismatch repair cancer syndrome 1' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'mismatch repair cancer syndrome 1' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis 'epidermodysplasia verruciformis' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'epidermodysplasia verruciformis' SubClassOf 'bearer_of' some 'rare' 'epidermodysplasia verruciformis' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0010164 phocomelia, Schinzel type 'phocomelia, Schinzel type' SubClassOf 'non-syndromic limb reduction defect' 'phocomelia, Schinzel type' SubClassOf 'dysostosis' 'phocomelia, Schinzel type' SubClassOf 'non-syndromic limb reduction defect' 'phocomelia, Schinzel type' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0010165 ulna hypoplasia-intellectual disability syndrome 'ulna hypoplasia-intellectual disability syndrome' SubClassOf 'dysostosis of genetic origin' 'ulna hypoplasia-intellectual disability syndrome' SubClassOf 'genetic disorder' 'ulna hypoplasia-intellectual disability syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0009189 multiple epiphyseal dysplasia type 4 'multiple epiphyseal dysplasia type 4' SubClassOf 'sulfation-related bone disorder' 'multiple epiphyseal dysplasia type 4' SubClassOf 'inborn errors of metabolism' 'multiple epiphyseal dysplasia type 4' SubClassOf 'mineral metabolism disease' http://purl.obolibrary.org/obo/MONDO_0009191 Lowry-Wood syndrome 'Lowry-Wood syndrome' SubClassOf 'multiple epiphyseal dysplasia and pseudoachondroplasia' http://purl.obolibrary.org/obo/MONDO_0010172 VACTERL with hydrocephalus 'VACTERL with hydrocephalus' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010188 familial isolated deficiency of vitamin E 'familial isolated deficiency of vitamin E' SubClassOf 'disorder of other vitamins and cofactors metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 'vitamin K-dependent clotting factors, combined deficiency of, type 1' SubClassOf 'disorder of other vitamins and cofactors metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0010180 autosomal recessive spondylocostal dysostosis 'autosomal recessive spondylocostal dysostosis' SubClassOf 'congenital disorder of glycosylation-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0010181 oculogastrointestinal muscular dystrophy 'oculogastrointestinal muscular dystrophy' SubClassOf 'eyelids malposition disorder' 'oculogastrointestinal muscular dystrophy' SubClassOf 'disorder of visual system' 'oculogastrointestinal muscular dystrophy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010193 Weaver syndrome 'Weaver syndrome' SubClassOf 'overgrowth or tall stature syndrome with skeletal involvement' 'Weaver syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0019907 ring chromosome 13 'ring chromosome 13' SubClassOf 'syndromic anorectal malformation' 'ring chromosome 13' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019902 monosomy 13q34 'monosomy 13q34' SubClassOf 'syndromic anorectal malformation' 'monosomy 13q34' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019916 maternal uniparental disomy of chromosome 16 'maternal uniparental disomy of chromosome 16' SubClassOf 'syndromic anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0019929 49,XXXXY syndrome '49,XXXXY syndrome' SubClassOf 'syndromic urogenital tract malformation' '49,XXXXY syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019928 48,XXXY syndrome '48,XXXY syndrome' SubClassOf 'syndromic urogenital tract malformation' '48,XXXY syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0044903 myelofibrosis 'myelofibrosis' SubClassOf 'bone marrow disorder' 'myelofibrosis' SubClassOf 'chronic myeloproliferative disorder' http://purl.obolibrary.org/obo/MONDO_0019938 anorectal malformation 'anorectal malformation' SubClassOf 'digestive tract malformation' 'anorectal malformation' SubClassOf 'bearer_of' some 'rare' 'anorectal malformation' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0019956 encephalitis 'encephalitis' SubClassOf 'brain inflammatory disease' 'encephalitis' SubClassOf 'encephalomyelitis' 'encephalitis' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0019978 Robinow syndrome 'Robinow syndrome' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'Robinow syndrome' SubClassOf 'skeletal dysplasia' http://www.orpha.net/ORDO/Orphanet_243 46,XX gonadal dysgenesis '46,XX gonadal dysgenesis' SubClassOf 'hereditary 46,XX disorder of sex development' '46,XX gonadal dysgenesis' SubClassOf '46,XX disorder of gonadal development' http://purl.obolibrary.org/obo/MONDO_0019998 gastroduodenal malformation 'gastroduodenal malformation' SubClassOf 'digestive tract malformation' 'gastroduodenal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019999 intestinal malformation 'intestinal malformation' SubClassOf 'digestive tract malformation' 'intestinal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019804 tracheomalacia 'tracheomalacia' SubClassOf 'non-syndromic respiratory or mediastinal malformation' 'tracheomalacia' SubClassOf 'respiratory malformation' 'tracheomalacia' SubClassOf 'tracheal anomaly' 'tracheomalacia' SubClassOf 'hereditary otorhinolaryngological malformation' 'tracheomalacia' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0019800 chronic hepatic porphyria 'chronic hepatic porphyria' SubClassOf 'hepatic porphyria' 'chronic hepatic porphyria' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019822 arterial duct anomaly 'arterial duct anomaly' SubClassOf 'congenital anomaly of the great arteries' http://purl.obolibrary.org/obo/MONDO_0019821 aneurysm or dilatation of ascending aorta 'aneurysm or dilatation of ascending aorta' SubClassOf 'ascending aorta anomaly' 'aneurysm or dilatation of ascending aorta' SubClassOf 'congenital anomaly of the great arteries' http://purl.obolibrary.org/obo/MONDO_0019844 pituitary hormone deficiency secondary to storage disease 'pituitary hormone deficiency secondary to storage disease' SubClassOf 'pituitary deficiency' http://purl.obolibrary.org/obo/MONDO_0019855 athyreosis 'athyreosis' SubClassOf 'primary congenital hypothyroidism' 'athyreosis' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0019854 thyroid ectopia 'thyroid ectopia' SubClassOf 'primary congenital hypothyroidism' 'thyroid ectopia' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0019851 acquired primary ovarian failure 'acquired primary ovarian failure' SubClassOf 'anomaly of puberty or/and menstrual cycle' http://purl.obolibrary.org/obo/MONDO_0019852 inherited primary ovarian failure 'inherited primary ovarian failure' SubClassOf 'anomaly of puberty or/and menstrual cycle of genetic origin' 'inherited primary ovarian failure' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019861 thyroid hypoplasia 'thyroid hypoplasia' SubClassOf 'primary congenital hypothyroidism' 'thyroid hypoplasia' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0019860 thyroid hemiagenesis 'thyroid hemiagenesis' SubClassOf 'primary congenital hypothyroidism' 'thyroid hemiagenesis' SubClassOf 'bearer_of' some 'congenital' http://www.ebi.ac.uk/efo/EFO_0001062 cytomegalovirus infection 'cytomegalovirus infection' SubClassOf 'Herpesviridae infectious disease' 'cytomegalovirus infection' SubClassOf 'primary viral infectious disease' http://purl.obolibrary.org/obo/MONDO_0019716 overgrowth syndrome 'overgrowth syndrome' SubClassOf 'overgrowth/obesity syndrome' 'overgrowth syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0019718 lethal chondrodysplasia 'lethal chondrodysplasia' SubClassOf 'skeletal dysplasia' 'lethal chondrodysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019712 patellar dysostosis 'patellar dysostosis' SubClassOf 'skeletal dysplasia' 'patellar dysostosis' SubClassOf 'dysostosis of genetic origin' 'patellar dysostosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019714 non-syndromic polydactyly, syndactyly and/or hyperphalangy 'non-syndromic polydactyly, syndactyly and/or hyperphalangy' SubClassOf 'dysostosis of genetic origin' 'non-syndromic polydactyly, syndactyly and/or hyperphalangy' SubClassOf 'non-syndromic limb malformation' 'non-syndromic polydactyly, syndactyly and/or hyperphalangy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019713 non-syndromic limb reduction defect 'non-syndromic limb reduction defect' SubClassOf 'dysostosis of genetic origin' 'non-syndromic limb reduction defect' SubClassOf 'non-syndromic limb malformation' http://purl.obolibrary.org/obo/MONDO_0020718 congenital short bowel syndrome, autosomal recessive 'congenital short bowel syndrome, autosomal recessive' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019723 disease of glomerular basement membrane 'disease of glomerular basement membrane' SubClassOf 'glomerular disease' 'disease of glomerular basement membrane' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019720 non-syndromic renal or urinary tract malformation 'non-syndromic renal or urinary tract malformation' SubClassOf 'kidney disease' 'non-syndromic renal or urinary tract malformation' SubClassOf 'urogenital tract malformation' 'non-syndromic renal or urinary tract malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020738 multiple benign circumferential skin creases on limbs 1 'multiple benign circumferential skin creases on limbs 1' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0020735 ACTH-independent macronodular adrenal hyperplasia 1 'ACTH-independent macronodular adrenal hyperplasia 1' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0044715 metopic ridging-ptosis-facial dysmorphism syndrome 'metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/MONDO_0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'hereditary ataxia' 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'congenital nervous system disorder' 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'unspecified inborn mitochondrial disorder' http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease 'nephropathy secondary to a storage or other metabolic disease' SubClassOf 'bearer_of' some 'rare' 'nephropathy secondary to a storage or other metabolic disease' SubClassOf 'kidney disease' 'nephropathy secondary to a storage or other metabolic disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019758 midline interhemispheric variant of holoprosencephaly 'midline interhemispheric variant of holoprosencephaly' SubClassOf 'holoprosencephaly' 'midline interhemispheric variant of holoprosencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019780 anotia 'anotia' SubClassOf 'hereditary otorhinolaryngological malformation' 'anotia' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0019782 humero-ulnar synostosis 'humero-ulnar synostosis' SubClassOf 'joint formation defects' 'humero-ulnar synostosis' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0019799 hepatoerythropoietic porphyria 'hepatoerythropoietic porphyria' SubClassOf 'porphyria cutanea tarda' 'hepatoerythropoietic porphyria' SubClassOf 'Familial porphyria cutanea tarda' http://purl.obolibrary.org/obo/MONDO_0019797 acrodysostosis 'acrodysostosis' SubClassOf 'dysostosis of genetic origin' 'acrodysostosis' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0044792 large congenital melanocytic nevus 'large congenital melanocytic nevus' SubClassOf 'inherited skin tumor' 'large congenital melanocytic nevus' SubClassOf 'bearer_of' some 'rare' 'large congenital melanocytic nevus' SubClassOf 'hereditary skin disorder' http://www.orpha.net/ORDO/Orphanet_171607 X-linked spastic paraplegia type 34 'X-linked spastic paraplegia type 34' SubClassOf 'X-linked pure spastic paraplegia' 'X-linked spastic paraplegia type 34' SubClassOf 'Genetic neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_559 Marinesco-Sjögren syndrome 'Marinesco-Sjögren syndrome' SubClassOf 'hereditary neuro-ophthalmological disease' http://purl.obolibrary.org/obo/MONDO_0019619 duplication of the esophagus 'duplication of the esophagus' SubClassOf 'non-syndromic esophageal malformation' 'duplication of the esophagus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019627 isolated congenital alacrima 'isolated congenital alacrima' SubClassOf 'bearer_of' some 'has an isolated presentation' 'isolated congenital alacrima' SubClassOf 'congenital alacrima' 'isolated congenital alacrima' EquivalentTo 'congenital alacrima' and ('bearer_of' some 'has an isolated presentation') 'isolated congenital alacrima' SubClassOf 'lacrimal apparatus disease' 'isolated congenital alacrima' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0019629 sclerocornea 'sclerocornea' SubClassOf 'corneogoniodysgenesis' 'sclerocornea' SubClassOf 'corneal disease' http://purl.obolibrary.org/obo/MONDO_0019626 isolated ankyloblepharon filiforme adnatum 'isolated ankyloblepharon filiforme adnatum' SubClassOf 'eyelid border anomaly' 'isolated ankyloblepharon filiforme adnatum' SubClassOf 'non-syndromic developmental defect of the eye' 'isolated ankyloblepharon filiforme adnatum' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0019620 congenital esophageal diverticulum 'congenital esophageal diverticulum' SubClassOf 'non-syndromic esophageal malformation' 'congenital esophageal diverticulum' SubClassOf 'disorder of development or morphogenesis' 'congenital esophageal diverticulum' SubClassOf 'bearer_of' some 'rare' 'congenital esophageal diverticulum' SubClassOf 'esophageal disease' http://purl.obolibrary.org/obo/MONDO_0019638 renal dysplasia 'renal dysplasia' SubClassOf 'non-syndromic renal or urinary tract malformation' 'renal dysplasia' SubClassOf 'disorder of development or morphogenesis' 'renal dysplasia' SubClassOf 'kidney disease' 'renal dysplasia' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001979 Adrenocorticotropic hormone deficiency 'Adrenocorticotropic hormone deficiency' SubClassOf 'non-acquired pituitary hormone deficiency' 'Adrenocorticotropic hormone deficiency' SubClassOf 'hypopituitarism' 'Adrenocorticotropic hormone deficiency' SubClassOf 'bearer_of' some 'has an isolated presentation' 'Adrenocorticotropic hormone deficiency' SubClassOf 'isolated congenital hypogonadotropic hypogonadism' 'Adrenocorticotropic hormone deficiency' SubClassOf 'combined pituitary hormone deficiencies, genetic form' http://purl.obolibrary.org/obo/MONDO_0019637 renal hypoplasia 'renal hypoplasia' SubClassOf 'non-syndromic renal or urinary tract malformation' 'renal hypoplasia' SubClassOf 'kidney disease' 'renal hypoplasia' SubClassOf 'bearer_of' some 'rare' 'renal hypoplasia' SubClassOf 'disorder of development or morphogenesis' http://www.ebi.ac.uk/efo/EFO_1001981 Aminoacylase 1 deficiency 'Aminoacylase 1 deficiency' SubClassOf 'inborn disorder of amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0020629 microcephaly, growth restriction and increased sister chromatid exchange 'microcephaly, growth restriction and increased sister chromatid exchange' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'microcephaly, growth restriction and increased sister chromatid exchange' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome 'retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' 'retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'syndromic disease' 'retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type 'spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf 'sulfation-related bone disorder' 'spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf 'inborn errors of metabolism' 'spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf 'mineral metabolism disease' http://purl.obolibrary.org/obo/MONDO_0019689 perlecan-related bone disorder 'perlecan-related bone disorder' SubClassOf 'skeletal dysplasia' 'perlecan-related bone disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019688 sulfation-related bone disorder 'sulfation-related bone disorder' SubClassOf 'sulfur metabolism disease' 'sulfation-related bone disorder' SubClassOf 'inborn errors of metabolism' 'sulfation-related bone disorder' SubClassOf 'skeletal dysplasia' 'sulfation-related bone disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0044660 menstrual cycle-dependent periodic fever 'menstrual cycle-dependent periodic fever' SubClassOf 'anomaly of puberty or/and menstrual cycle of genetic origin' 'menstrual cycle-dependent periodic fever' SubClassOf 'genetic disorder' 'menstrual cycle-dependent periodic fever' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0019697 mesomelic and rhizo-mesomelic dysplasia 'mesomelic and rhizo-mesomelic dysplasia' SubClassOf 'skeletal dysplasia' 'mesomelic and rhizo-mesomelic dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019699 slender bone dysplasia 'slender bone dysplasia' SubClassOf 'skeletal dysplasia' 'slender bone dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019693 multiple metaphyseal dysplasia 'multiple metaphyseal dysplasia' SubClassOf 'skeletal dysplasia' 'multiple metaphyseal dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019692 multiple epiphyseal dysplasia and pseudoachondroplasia 'multiple epiphyseal dysplasia and pseudoachondroplasia' SubClassOf 'skeletal dysplasia' 'multiple epiphyseal dysplasia and pseudoachondroplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0044655 c12orf65-related combined oxidative phosphorylation defect 'c12orf65-related combined oxidative phosphorylation defect' SubClassOf 'bearer_of' some 'rare' 'c12orf65-related combined oxidative phosphorylation defect' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0030055 sorbitol dehydrogenase deficiency with peripheral neuropathy 'sorbitol dehydrogenase deficiency with peripheral neuropathy' SubClassOf 'genetic disorder' 'sorbitol dehydrogenase deficiency with peripheral neuropathy' SubClassOf 'autosomal recessive distal hereditary motor neuropathy' http://www.orpha.net/ORDO/Orphanet_816 Sjögren-Larsson syndrome 'Sjögren-Larsson syndrome' SubClassOf 'inherited ichthyosis syndromic form' http://www.orpha.net/ORDO/Orphanet_847 Alpha-thalassemia - X-linked intellectual disability syndrome 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'ATR-X-related syndrome' http://purl.obolibrary.org/obo/MONDO_0019506 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome 'obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome' SubClassOf 'syndromic hypothyroidism' 'obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019503 anterior segment dysgenesis 'anterior segment dysgenesis' SubClassOf 'developmental defect of the eye' 'anterior segment dysgenesis' SubClassOf 'eye disease' 'anterior segment dysgenesis' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0019505 hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome 'hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome 'Usher syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'Usher syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019513 esophageal malformation 'esophageal malformation' SubClassOf 'esophageal disease' 'esophageal malformation' SubClassOf 'digestive tract malformation' 'esophageal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019516 exudative vitreoretinopathy 'exudative vitreoretinopathy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020506 ovarioleukodystrophy 'ovarioleukodystrophy' SubClassOf 'leukoencephalopathy with vanishing white matter' 'ovarioleukodystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019520 syndromic lymphedema 'syndromic lymphedema' SubClassOf 'syndromic disease' 'syndromic lymphedema' EquivalentTo 'lymphedema' and ('bearer_of' some 'has a syndromic presentation') 'syndromic lymphedema' SubClassOf 'lymphedema' 'syndromic lymphedema' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020537 occupational allergic alveolitis 'occupational allergic alveolitis' SubClassOf 'hypersensitivity pneumonitis' 'occupational allergic alveolitis' SubClassOf 'occupational lung disease' http://purl.obolibrary.org/obo/MONDO_0019530 non-syndromic syndactyly 'non-syndromic syndactyly' SubClassOf 'non-syndromic polydactyly, syndactyly and/or hyperphalangy' http://purl.obolibrary.org/obo/MONDO_0020524 primary parathyroid hyperplasia 'primary parathyroid hyperplasia' SubClassOf 'familial primary hyperparathyroidism' 'primary parathyroid hyperplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019549 severe early-onset axonal neuropathy due to MFN2 deficiency 'severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf 'axonal hereditary motor and sensory neuropathy' 'severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf 'hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0019541 non-infectious posterior uveitis 'non-infectious posterior uveitis' SubClassOf 'choroiditis' 'non-infectious posterior uveitis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019550 hereditary motor and sensory neuropathy with acrodystrophy 'hereditary motor and sensory neuropathy with acrodystrophy' SubClassOf 'axonal hereditary motor and sensory neuropathy' 'hereditary motor and sensory neuropathy with acrodystrophy' SubClassOf 'hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0019551 hereditary motor and sensory neuropathy type 6 'hereditary motor and sensory neuropathy type 6' SubClassOf 'axonal hereditary motor and sensory neuropathy' 'hereditary motor and sensory neuropathy type 6' SubClassOf 'hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0019572 autosomal recessive cutis laxa type 1 'autosomal recessive cutis laxa type 1' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019597 46,XY disorder of sex development due to isolated 17,20-lyase deficiency '46,XY disorder of sex development due to isolated 17,20-lyase deficiency' SubClassOf 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' '46,XY disorder of sex development due to isolated 17,20-lyase deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019599 primary lipodystrophy 'primary lipodystrophy' SubClassOf 'bearer_of' some 'rare' 'primary lipodystrophy' SubClassOf 'subcutaneous tissue disorder' 'primary lipodystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019593 46,XX disorder of sex development induced by fetal androgens excess '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf '46,XX disorder of sex development induced by androgens excess' '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf 'bearer_of' some 'rare' '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf 'female reproductive system disease' '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_773 Refsum disease 'Refsum disease' SubClassOf 'hereditary neuro-ophthalmological disease' 'Refsum disease' SubClassOf 'inherited ichthyosis syndromic form' http://purl.obolibrary.org/obo/MONDO_0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type 'microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'microcephalic primordial dwarfism' http://purl.obolibrary.org/obo/MONDO_0019403 congenital dyserythropoietic anemia 'congenital dyserythropoietic anemia' SubClassOf 'constitutional dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia 'beta thalassemia' SubClassOf 'pituitary hormone deficiency secondary to storage disease' 'beta thalassemia' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0019413 ischio-vertebral syndrome 'ischio-vertebral syndrome' SubClassOf 'dysostosis of genetic origin' 'ischio-vertebral syndrome' SubClassOf 'dysostosis' 'ischio-vertebral syndrome' SubClassOf 'syndromic disease' 'ischio-vertebral syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019439 AA amyloidosis 'AA amyloidosis' SubClassOf 'acquired amyloid peripheral neuropathy' 'AA amyloidosis' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0019438 AL amyloidosis 'AL amyloidosis' SubClassOf 'acquired amyloid peripheral neuropathy' 'AL amyloidosis' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0020427 Laubry-Pezzi syndrome 'Laubry-Pezzi syndrome' SubClassOf 'congenital anomaly of ventricular septum' 'Laubry-Pezzi syndrome' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonic epilepsy 'benign adult familial myoclonic epilepsy' SubClassOf 'primary myoclonus' http://purl.obolibrary.org/obo/MONDO_0019443 dextro-looped transposition of the great arteries 'dextro-looped transposition of the great arteries' SubClassOf 'hereditary cardiac anomaly' http://purl.obolibrary.org/obo/MONDO_0019453 myelodysplastic syndrome with multilineage dysplasia 'myelodysplastic syndrome with multilineage dysplasia' SubClassOf 'refractory hematologic cancer' http://purl.obolibrary.org/obo/MONDO_0019471 adult T-cell leukemia/lymphoma 'adult T-cell leukemia/lymphoma' SubClassOf 'aggressive primary cutaneous T-cell lymphoma' 'adult T-cell leukemia/lymphoma' SubClassOf 'skin disorder caused by infection' 'adult T-cell leukemia/lymphoma' SubClassOf 'immune system cancer' 'adult T-cell leukemia/lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' http://purl.obolibrary.org/obo/MONDO_0019469 T-cell large granular lymphocyte leukemia 'T-cell large granular lymphocyte leukemia' SubClassOf 'acquired neutropenia' 'T-cell large granular lymphocyte leukemia' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0019479 histiocytic sarcoma 'histiocytic sarcoma' SubClassOf 'macrophage or histiocytic tumor' 'histiocytic sarcoma' SubClassOf 'Histiocytic and Dendritic Cell Neoplasm' http://purl.obolibrary.org/obo/MONDO_0019472 extranodal nasal NK/T cell lymphoma 'extranodal nasal NK/T cell lymphoma' SubClassOf 'aggressive primary cutaneous T-cell lymphoma' 'extranodal nasal NK/T cell lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0020461 epiblepharon 'epiblepharon' SubClassOf 'eyelids malposition disorder' 'epiblepharon' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0020469 48,XYYY syndrome '48,XYYY syndrome' SubClassOf 'syndromic urogenital tract malformation' '48,XYYY syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019484 hypothalamic hamartomas with gelastic seizures 'hypothalamic hamartomas with gelastic seizures' SubClassOf 'cerebral malformation' 'hypothalamic hamartomas with gelastic seizures' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0019486 myoclonic epilepsy of infancy 'myoclonic epilepsy of infancy' SubClassOf 'infantile-onset epilepsy' 'myoclonic epilepsy of infancy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020497 Turcot syndrome with polyposis 'Turcot syndrome with polyposis' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'Turcot syndrome with polyposis' SubClassOf 'nervous system neoplasm' http://purl.obolibrary.org/obo/MONDO_0020496 familial porencephaly 'familial porencephaly' SubClassOf 'COL4A1 or COL4A2-related cerebral small vessel disease' 'familial porencephaly' SubClassOf 'hereditary cerebral malformation' 'familial porencephaly' SubClassOf 'cerebrovascular disorder' 'familial porencephaly' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0020492 hemimegalencephaly 'hemimegalencephaly' SubClassOf 'cerebral malformation' http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome 'Turner syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Turner syndrome' SubClassOf 'syndromic epicanthus' 'Turner syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency 'sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'disorder of other vitamins and cofactors metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0009903 postaxial acrofacial dysostosis 'postaxial acrofacial dysostosis' SubClassOf 'branchial arch or oral-acral syndrome' 'postaxial acrofacial dysostosis' SubClassOf 'secondary ectropion' 'postaxial acrofacial dysostosis' SubClassOf 'syndromic palpebral coloboma' 'postaxial acrofacial dysostosis' SubClassOf 'dysostosis with predominant craniofacial involvement' 'postaxial acrofacial dysostosis' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009901 Bartsocas-Papas syndrome 1 'Bartsocas-Papas syndrome 1' SubClassOf 'lethal multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0010906 orofacial cleft 11 'orofacial cleft 11' SubClassOf 'orofacial cleft' http://purl.obolibrary.org/obo/MONDO_0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf '46,XY disorder of sex development of endocrine origin' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'genetic disorder' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0009914 pseudodiastrophic dysplasia 'pseudodiastrophic dysplasia' SubClassOf 'primary bone dysplasia with multiple joint dislocations' 'pseudodiastrophic dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009910 Wiedemann-Rautenstrauch syndrome 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'secondary ectropion' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009928 pulmonary alveolar microlithiasis 'pulmonary alveolar microlithiasis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009925 autosomal recessive inherited pseudoxanthoma elasticum 'autosomal recessive inherited pseudoxanthoma elasticum' SubClassOf 'hereditary skin disorder' 'autosomal recessive inherited pseudoxanthoma elasticum' SubClassOf 'dermis elastic tissue disorder' http://purl.obolibrary.org/obo/MONDO_0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf '46,XY disorder of sex development of endocrine origin' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'hereditary 46,XY disorder of sex development' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0009920 Acrootoocular syndrome 'Acrootoocular syndrome' SubClassOf 'eyelids malposition disorder' 'Acrootoocular syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009936 familial primary pulmonary hypoplasia 'familial primary pulmonary hypoplasia' SubClassOf 'non-syndromic respiratory or mediastinal malformation' 'familial primary pulmonary hypoplasia' SubClassOf 'respiratory malformation' 'familial primary pulmonary hypoplasia' SubClassOf 'disorder of development or morphogenesis' 'familial primary pulmonary hypoplasia' SubClassOf 'bearer_of' some 'rare' 'familial primary pulmonary hypoplasia' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0009935 pulmonary hypertension, primary, autosomal recessive 'pulmonary hypertension, primary, autosomal recessive' SubClassOf 'idiopathic and/or familial pulmonary arterial hypertension' 'pulmonary hypertension, primary, autosomal recessive' SubClassOf 'primary pulmonary hypertension' http://purl.obolibrary.org/obo/MONDO_0009934 alveolar capillary dysplasia with misalignment of pulmonary veins 'alveolar capillary dysplasia with misalignment of pulmonary veins' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009933 congenital pulmonary lymphangiectasia 'congenital pulmonary lymphangiectasia' SubClassOf 'respiratory malformation' 'congenital pulmonary lymphangiectasia' SubClassOf 'non-syndromic respiratory or mediastinal malformation' 'congenital pulmonary lymphangiectasia' SubClassOf 'bearer_of' some 'rare' 'congenital pulmonary lymphangiectasia' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0010920 microtia 'microtia' SubClassOf 'hereditary otorhinolaryngological malformation' 'microtia' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0010939 low phospholipid associated cholelithiasis 'low phospholipid associated cholelithiasis' SubClassOf 'hereditary biliary tract disease' http://purl.obolibrary.org/obo/MONDO_0009943 Pyle disease 'Pyle disease' SubClassOf 'primary bone dysplasia with increased bone density' 'Pyle disease' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009942 pyknoachondrogenesis 'pyknoachondrogenesis' SubClassOf 'lethal chondrodysplasia' 'pyknoachondrogenesis' SubClassOf 'skeletal dysplasia' 'pyknoachondrogenesis' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0009955 rapadilino syndrome 'rapadilino syndrome' SubClassOf 'congenital limb malformation' 'rapadilino syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0009954 Ramon syndrome 'Ramon syndrome' SubClassOf 'primary bone dysplasia with disorganized development of skeletal components' 'Ramon syndrome' SubClassOf 'genetic disorder' 'Ramon syndrome' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0009953 leukocyte adhesion deficiency type II 'leukocyte adhesion deficiency type II' SubClassOf 'congenital hematological disorder' http://www.ebi.ac.uk/efo/EFO_1001857 Takayasu arteritis 'Takayasu arteritis' SubClassOf 'predominantly large-vessel vasculitis' 'Takayasu arteritis' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009965 Perlman syndrome 'Perlman syndrome' SubClassOf 'inherited renal cancer-predisposing syndrome' 'Perlman syndrome' SubClassOf 'syndromic disease' 'Perlman syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010952 hereditary hyperferritinemia with congenital cataracts 'hereditary hyperferritinemia with congenital cataracts' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009974 familial hemophagocytic lymphohistiocytosis type 1 'familial hemophagocytic lymphohistiocytosis type 1' SubClassOf 'brain inflammatory disease' 'familial hemophagocytic lymphohistiocytosis type 1' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0010966 achondrogenesis type IB 'achondrogenesis type IB' SubClassOf 'sulfation-related bone disorder' 'achondrogenesis type IB' SubClassOf 'mineral metabolism disease' 'achondrogenesis type IB' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0009970 renal tubular dysgenesis of genetic origin 'renal tubular dysgenesis of genetic origin' SubClassOf 'bearer_of' some 'rare' 'renal tubular dysgenesis of genetic origin' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0010962 diffuse nonepidermolytic palmoplantar keratoderma 'diffuse nonepidermolytic palmoplantar keratoderma' SubClassOf 'autosomal dominant isolated diffuse palmoplantar keratoderma' 'diffuse nonepidermolytic palmoplantar keratoderma' SubClassOf 'diffuse palmoplantar keratoderma' 'diffuse nonepidermolytic palmoplantar keratoderma' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0010977 Brody myopathy 'Brody myopathy' SubClassOf 'hereditary skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome 'retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome' SubClassOf 'genetic disorder' 'retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019306 congenital non-bullous ichthyosiform erythroderma 'congenital non-bullous ichthyosiform erythroderma' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009998 Richieri Costa-Pereira syndrome 'Richieri Costa-Pereira syndrome' SubClassOf 'dysostosis with predominant craniofacial involvement' 'Richieri Costa-Pereira syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009997 Roberts syndrome 'Roberts syndrome' SubClassOf 'Roberts-SC phocomelia syndrome' 'Roberts syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001897 Morvan syndrome 'Morvan syndrome' SubClassOf 'acquired peripheral movement disorder' http://purl.obolibrary.org/obo/MONDO_0009996 rhizomelic syndrome, Urbach type 'rhizomelic syndrome, Urbach type' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'rhizomelic syndrome, Urbach type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 'Mayer-Rokitansky-Küster-Hauser syndrome type 2' SubClassOf 'syndromic anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome 'Hermansky-Pudlak syndrome' SubClassOf 'syndromic disease' 'Hermansky-Pudlak syndrome' SubClassOf 'dense granule disease' http://purl.obolibrary.org/obo/MONDO_0019311 wooly hair nevus 'wooly hair nevus' SubClassOf 'hereditary epidermal appendage anomaly' 'wooly hair nevus' SubClassOf 'epidermal appendage tumor' 'wooly hair nevus' SubClassOf 'isolated genetic hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0019313 lymphatic malformation 'lymphatic malformation' SubClassOf 'hereditary vascular anomaly' 'lymphatic malformation' SubClassOf 'vascular disease' 'lymphatic malformation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010997 supranuclear palsy, progressive, 1 'supranuclear palsy, progressive, 1' SubClassOf 'inherited neurodegenerative disorder' http://www.orpha.net/ORDO/Orphanet_983 Testicular regression syndrome 'Testicular regression syndrome' SubClassOf '46,XX disorder of gonadal development' 'Testicular regression syndrome' SubClassOf 'hereditary 46,XX disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0020339 X-linked complex spastic paraplegia 'X-linked complex spastic paraplegia' SubClassOf 'complex hereditary spastic paraplegia' 'X-linked complex spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019338 sarcoidosis 'sarcoidosis' SubClassOf 'granulomatous autoinflammatory syndrome' 'sarcoidosis' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0044304 hyperphenylalaninemia due to DNAJC12 deficiency 'hyperphenylalaninemia due to DNAJC12 deficiency' SubClassOf 'disorder of pterin metabolism' 'hyperphenylalaninemia due to DNAJC12 deficiency' SubClassOf 'persistent combined dystonia' 'hyperphenylalaninemia due to DNAJC12 deficiency' SubClassOf 'amino acid metabolism disease' 'hyperphenylalaninemia due to DNAJC12 deficiency' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0019336 Gardner syndrome 'Gardner syndrome' SubClassOf 'eye neoplasm' 'Gardner syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0019330 pili gemini 'pili gemini' SubClassOf 'isolated genetic hair shaft abnormality' 'pili gemini' SubClassOf 'hair anomaly' http://purl.obolibrary.org/obo/MONDO_0019332 punctate palmoplantar keratoderma type 1 'punctate palmoplantar keratoderma type 1' SubClassOf 'isolated punctate palmoplantar keratoderma' 'punctate palmoplantar keratoderma type 1' SubClassOf 'punctate palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0019349 Sotos syndrome 'Sotos syndrome' SubClassOf 'genetic disorder' 'Sotos syndrome' SubClassOf 'syndromic disease' 'Sotos syndrome' SubClassOf 'congenital nervous system disorder' 'Sotos syndrome' SubClassOf 'skeletal dysplasia' 'Sotos syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019347 peeling skin syndrome 'peeling skin syndrome' SubClassOf 'inherited non-syndromic ichthyosis' 'peeling skin syndrome' SubClassOf 'inherited ichthyosis' http://purl.obolibrary.org/obo/MONDO_0019342 Seckel syndrome 'Seckel syndrome' SubClassOf 'microcephalic primordial dwarfism' http://purl.obolibrary.org/obo/MONDO_0020357 coloboma of eyelid 'coloboma of eyelid' SubClassOf 'eyelid border anomaly' http://purl.obolibrary.org/obo/MONDO_0019351 isolated spina bifida 'isolated spina bifida' SubClassOf 'non-syndromic central nervous system malformation' 'isolated spina bifida' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0019354 Stickler syndrome 'Stickler syndrome' SubClassOf 'hereditary otorhinolaryngologic disease' 'Stickler syndrome' SubClassOf 'hereditary syndromic Pierre Robin syndrome' http://purl.obolibrary.org/obo/MONDO_0020345 presynaptic congenital myasthenic syndrome 'presynaptic congenital myasthenic syndrome' SubClassOf 'congenital myasthenic syndrome' 'presynaptic congenital myasthenic syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020343 alpha-crystallinopathy 'alpha-crystallinopathy' SubClassOf 'congenital nervous system disorder' 'alpha-crystallinopathy' SubClassOf 'myofibrillar myopathy' 'alpha-crystallinopathy' SubClassOf 'qualitative or quantitative defects of alphaB-cristallin' 'alpha-crystallinopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020346 synaptic congenital myasthenic syndrome 'synaptic congenital myasthenic syndrome' SubClassOf 'congenital myasthenic syndrome' 'synaptic congenital myasthenic syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020375 coralliform cataract 'coralliform cataract' SubClassOf 'early-onset partial cataract' 'coralliform cataract' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome 'megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf 'non-syndromic central nervous system malformation' 'megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf 'congenital hydrocephalus' 'megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia 'Fanconi anemia' SubClassOf 'dysostosis of genetic origin' 'Fanconi anemia' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0020367 juvenile open angle glaucoma 'juvenile open angle glaucoma' SubClassOf 'primary hereditary glaucoma' 'juvenile open angle glaucoma' SubClassOf 'hereditary glaucoma' http://purl.obolibrary.org/obo/MONDO_0020366 congenital glaucoma 'congenital glaucoma' SubClassOf 'primary hereditary glaucoma' 'congenital glaucoma' SubClassOf 'hereditary glaucoma' http://purl.obolibrary.org/obo/MONDO_0020369 Chandler syndrome 'Chandler syndrome' SubClassOf 'corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0019388 pelvis syndrome 'pelvis syndrome' SubClassOf 'syndromic anorectal malformation' 'pelvis syndrome' SubClassOf 'bearer_of' some 'rare' 'pelvis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019386 progressive rubella panencephalitis 'progressive rubella panencephalitis' SubClassOf 'chronic encephalitis' 'progressive rubella panencephalitis' SubClassOf 'bearer_of' some 'acquired' 'progressive rubella panencephalitis' SubClassOf 'rubella encephalitis' 'progressive rubella panencephalitis' EquivalentTo 'chronic encephalitis' and ('disease arises from feature' some 'rubella') http://purl.obolibrary.org/obo/MONDO_0015666 familial idiopathic dilatation of the right atrium 'familial idiopathic dilatation of the right atrium' SubClassOf 'atrial defect and interatrial communication' 'familial idiopathic dilatation of the right atrium' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0015668 hereditary dentin defect 'hereditary dentin defect' SubClassOf 'tooth disease' 'hereditary dentin defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015660 sporadic fetal brain disruption sequence 'sporadic fetal brain disruption sequence' SubClassOf 'cerebral malformation' 'sporadic fetal brain disruption sequence' SubClassOf 'central nervous system disease' http://purl.obolibrary.org/obo/MONDO_0015679 autosomal thrombocytopenia with normal platelets 'autosomal thrombocytopenia with normal platelets' SubClassOf 'hereditary thrombocytopenia with normal platelets' 'autosomal thrombocytopenia with normal platelets' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015678 dysplasia of head of femur, Meyer type 'dysplasia of head of femur, Meyer type' SubClassOf 'multiple epiphyseal dysplasia and pseudoachondroplasia' 'dysplasia of head of femur, Meyer type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0015686 primary peritoneal carcinoma 'primary peritoneal carcinoma' SubClassOf 'primary malignant peritoneal tumor' http://purl.obolibrary.org/obo/MONDO_0015683 primary malignant peritoneal tumor 'primary malignant peritoneal tumor' SubClassOf 'primary peritoneal tumor' http://purl.obolibrary.org/obo/MONDO_0015682 primary peritoneal tumor 'primary peritoneal tumor' SubClassOf 'neoplasm' 'primary peritoneal tumor' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015697 immunoglobulin heavy chain deficiency 'immunoglobulin heavy chain deficiency' SubClassOf 'immunodeficiency predominantly affecting antibody production' 'immunoglobulin heavy chain deficiency' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0015695 combined immunodeficiency due to CRAC channel dysfunction 'combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0015708 immuno-osseous dysplasia 'immuno-osseous dysplasia' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'immuno-osseous dysplasia' SubClassOf 'inborn error of immunity' http://www.ebi.ac.uk/efo/EFO_0006509 Varicella Zoster infection 'Varicella Zoster infection' SubClassOf 'Herpesviridae infectious disease' 'Varicella Zoster infection' SubClassOf 'primary viral infectious disease' http://purl.obolibrary.org/obo/MONDO_0015726 distal trisomy 14q 'distal trisomy 14q' SubClassOf 'syndromic epicanthus' 'distal trisomy 14q' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015737 typical nemaline myopathy 'typical nemaline myopathy' SubClassOf 'congenital nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0015732 intermediate anorectal malformation 'intermediate anorectal malformation' SubClassOf 'isolated anorectal malformation' 'intermediate anorectal malformation' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0015731 high anorectal malformation 'high anorectal malformation' SubClassOf 'isolated anorectal malformation' 'high anorectal malformation' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0015736 intermediate nemaline myopathy 'intermediate nemaline myopathy' SubClassOf 'congenital nemaline myopathy' 'intermediate nemaline myopathy' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0015735 severe congenital nemaline myopathy 'severe congenital nemaline myopathy' SubClassOf 'congenital nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0015733 low anorectal malformation 'low anorectal malformation' SubClassOf 'isolated anorectal malformation' 'low anorectal malformation' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0015748 hereditary mucosal leukokeratosis 'hereditary mucosal leukokeratosis' SubClassOf 'inherited skin tumor' 'hereditary mucosal leukokeratosis' SubClassOf 'bearer_of' some 'rare' 'hereditary mucosal leukokeratosis' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0015757 lymphoid hemopathy 'lymphoid hemopathy' SubClassOf 'tumor of hematopoietic and lymphoid tissues' 'lymphoid hemopathy' SubClassOf 'hematopoietic and lymphoid system neoplasm' http://purl.obolibrary.org/obo/MONDO_0015756 myeloid hemopathy 'myeloid hemopathy' SubClassOf 'tumor of hematopoietic and lymphoid tissues' 'myeloid hemopathy' SubClassOf 'hematologic disease' 'myeloid hemopathy' SubClassOf 'cancer or benign tumor' http://purl.obolibrary.org/obo/MONDO_0015765 congenital myopathy with cores 'congenital myopathy with cores' SubClassOf 'congenital myopathy' 'congenital myopathy with cores' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0006494 SU.86.86 'SU.86.86' SubClassOf 'bearer_of' some 'pancreatic ductal adenocarcinoma' 'SU.86.86' SubClassOf 'bearer_of' some http://purl.obolibrary.org/obo/MONDO_0005184 http://purl.obolibrary.org/obo/MONDO_0015567 cataract-glaucoma syndrome 'cataract-glaucoma syndrome' SubClassOf 'developmental defect of the eye' 'cataract-glaucoma syndrome' SubClassOf 'disorder of visual system' 'cataract-glaucoma syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015586 benign familial mesial temporal lobe epilepsy 'benign familial mesial temporal lobe epilepsy' SubClassOf 'familial partial epilepsy' 'benign familial mesial temporal lobe epilepsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation 'non-syndromic urogenital tract malformation' SubClassOf 'urogenital tract malformation' 'non-syndromic urogenital tract malformation' EquivalentTo 'urogenital tract malformation' and ('bearer_of' some 'has an isolated presentation') 'non-syndromic urogenital tract malformation' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0015617 hereditary gastro-esophageal disease 'hereditary gastro-esophageal disease' EquivalentTo 'gastroesophageal disease' and ('disease has feature' some 'inherited') 'hereditary gastro-esophageal disease' SubClassOf 'gastroesophageal disease' 'hereditary gastro-esophageal disease' SubClassOf 'disease has feature' some 'inherited' 'hereditary gastro-esophageal disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015613 dentin dysplasia 'dentin dysplasia' SubClassOf 'hereditary dentin defect' http://purl.obolibrary.org/obo/MONDO_0015620 syndromic urogenital tract malformation 'syndromic urogenital tract malformation' EquivalentTo 'urogenital tract malformation' and ('bearer_of' some 'has a syndromic presentation') 'syndromic urogenital tract malformation' SubClassOf 'urogenital tract malformation' 'syndromic urogenital tract malformation' SubClassOf 'syndromic disease' 'syndromic urogenital tract malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015634 isolated osteopoikilosis 'isolated osteopoikilosis' SubClassOf 'osteopoikilosis' 'isolated osteopoikilosis' SubClassOf 'familial osteosclerosis' 'isolated osteopoikilosis' SubClassOf 'Buschke-Ollendorff syndrome' 'isolated osteopoikilosis' SubClassOf 'osteopoikilosis' http://purl.obolibrary.org/obo/MONDO_0015418 lateral facial cleft 'lateral facial cleft' SubClassOf 'hereditary head and neck malformation' 'lateral facial cleft' SubClassOf 'facial cleft' 'lateral facial cleft' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015412 median facial cleft 'median facial cleft' SubClassOf 'facial cleft' http://purl.obolibrary.org/obo/MONDO_0015417 Tessier number 6 facial cleft 'Tessier number 6 facial cleft' SubClassOf 'oblique facial cleft' 'Tessier number 6 facial cleft' SubClassOf 'facial cleft' http://purl.obolibrary.org/obo/MONDO_0015416 Tessier number 5 facial cleft 'Tessier number 5 facial cleft' SubClassOf 'oblique facial cleft' 'Tessier number 5 facial cleft' SubClassOf 'facial cleft' http://purl.obolibrary.org/obo/MONDO_0015415 oblique facial cleft 'oblique facial cleft' SubClassOf 'facial cleft' 'oblique facial cleft' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015424 lethal chondrodysplasia, Moerman type 'lethal chondrodysplasia, Moerman type' SubClassOf 'lethal chondrodysplasia' 'lethal chondrodysplasia, Moerman type' SubClassOf 'osteochondrodysplasia' 'lethal chondrodysplasia, Moerman type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0015425 lethal recessive chondrodysplasia 'lethal recessive chondrodysplasia' SubClassOf 'lethal chondrodysplasia' 'lethal recessive chondrodysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015420 cleft lip and alveolus 'cleft lip and alveolus' SubClassOf 'cleft lip with or without cleft palate' 'cleft lip and alveolus' SubClassOf 'orofacial cleft' 'cleft lip and alveolus' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0015448 mitochondrial complex III deficiency 'mitochondrial complex III deficiency' SubClassOf 'isolated oxidative phosphorylation complex disorder' http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome 'Coffin-Siris syndrome' SubClassOf 'dysostosis of genetic origin' 'Coffin-Siris syndrome' SubClassOf 'genetic disorder' 'Coffin-Siris syndrome' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0015450 triatrial heart 'triatrial heart' SubClassOf 'atrial defect and interatrial communication' 'triatrial heart' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0015469 craniosynostosis 'craniosynostosis' SubClassOf 'cranial malformation' 'craniosynostosis' SubClassOf 'dysostosis of genetic origin' 'craniosynostosis' SubClassOf 'dysostosis' 'craniosynostosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015462 thin ribs-tubular bones-dysmorphism syndrome 'thin ribs-tubular bones-dysmorphism syndrome' SubClassOf 'slender bone dysplasia' 'thin ribs-tubular bones-dysmorphism syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy 'familial isolated dilated cardiomyopathy' SubClassOf 'familial dilated cardiomyopathy' 'familial isolated dilated cardiomyopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015489 predominantly medium-vessel vasculitis 'predominantly medium-vessel vasculitis' SubClassOf 'vasculitis' http://purl.obolibrary.org/obo/MONDO_0015488 predominantly large-vessel vasculitis 'predominantly large-vessel vasculitis' SubClassOf 'vasculitis' http://purl.obolibrary.org/obo/MONDO_0015482 otomandibular dysplasia 'otomandibular dysplasia' SubClassOf 'disorder of facial skeleton' 'otomandibular dysplasia' SubClassOf 'developmental defect during embryogenesis' 'otomandibular dysplasia' SubClassOf 'otorhinolaryngologic disease' 'otomandibular dysplasia' SubClassOf 'hereditary head and neck malformation' 'otomandibular dysplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015481 coloboma of inferior eyelid 'coloboma of inferior eyelid' SubClassOf 'oblique facial cleft' 'coloboma of inferior eyelid' SubClassOf 'facial cleft' 'coloboma of inferior eyelid' SubClassOf 'coloboma of eyelid' http://purl.obolibrary.org/obo/MONDO_0015480 coloboma of superior eyelid 'coloboma of superior eyelid' SubClassOf 'oblique facial cleft' 'coloboma of superior eyelid' SubClassOf 'facial cleft' 'coloboma of superior eyelid' SubClassOf 'coloboma of eyelid' http://purl.obolibrary.org/obo/MONDO_0015485 primary hereditary glaucoma 'primary hereditary glaucoma' SubClassOf 'hereditary glaucoma' 'primary hereditary glaucoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015483 mandibulofacial dysostosis 'mandibulofacial dysostosis' SubClassOf 'otomandibular dysplasia' 'mandibulofacial dysostosis' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0015499 paralytic facial malformation 'paralytic facial malformation' SubClassOf 'disorder of facial skeleton' 'paralytic facial malformation' SubClassOf 'hereditary head and neck malformation' 'paralytic facial malformation' SubClassOf 'developmental defect during embryogenesis' 'paralytic facial malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015498 oromandibular-limb anomalies syndrome 'oromandibular-limb anomalies syndrome' SubClassOf 'hypoglossia/aglossia' 'oromandibular-limb anomalies syndrome' SubClassOf 'dysostosis' 'oromandibular-limb anomalies syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015492 anti-neutrophil cytoplasmic antibody-associated vasculitis 'anti-neutrophil cytoplasmic antibody-associated vasculitis' SubClassOf 'predominantly small-vessel vasculitis' http://purl.obolibrary.org/obo/MONDO_0015490 predominantly small-vessel vasculitis 'predominantly small-vessel vasculitis' SubClassOf 'vasculitis' http://purl.obolibrary.org/obo/MONDO_0015497 hypoglossia/aglossia 'hypoglossia/aglossia' SubClassOf 'disorder of facial skeleton' 'hypoglossia/aglossia' SubClassOf 'hereditary head and neck malformation' 'hypoglossia/aglossia' SubClassOf 'developmental defect during embryogenesis' 'hypoglossia/aglossia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015496 macroglossia 'macroglossia' SubClassOf 'hereditary head and neck malformation' http://www.ebi.ac.uk/efo/EFO_0006792 Lewy body dementia 'Lewy body dementia' SubClassOf 'dementia' 'Lewy body dementia' SubClassOf 'hereditary dementia' http://www.ebi.ac.uk/efo/EFO_0006790 cerebral amyloid angiopathy 'cerebral amyloid angiopathy' SubClassOf 'hereditary dementia' 'cerebral amyloid angiopathy' SubClassOf 'cerebrovascular dementia' 'cerebral amyloid angiopathy' SubClassOf 'mental or behavioural disorder' http://purl.obolibrary.org/obo/MONDO_0015509 hereditary biliary tract disease 'hereditary biliary tract disease' SubClassOf 'genetic disorder' 'hereditary biliary tract disease' SubClassOf 'biliary tract disease' 'hereditary biliary tract disease' SubClassOf 'liver disease' 'hereditary biliary tract disease' SubClassOf 'bearer_of' some 'rare' 'hereditary biliary tract disease' EquivalentTo 'biliary tract disease' and ('bearer_of' some 'inherited') 'hereditary biliary tract disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015508 hereditary parenchymatous liver disease 'hereditary parenchymatous liver disease' SubClassOf 'genetic disorder' 'hereditary parenchymatous liver disease' SubClassOf 'bearer_of' some 'rare' 'hereditary parenchymatous liver disease' SubClassOf 'liver disease' 'hereditary parenchymatous liver disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015505 tracheal anomaly 'tracheal anomaly' SubClassOf 'developmental defect during embryogenesis' 'tracheal anomaly' SubClassOf 'otorhinolaryngologic disease' 'tracheal anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015504 larynx anomaly 'larynx anomaly' SubClassOf 'otorhinolaryngologic disease' 'larynx anomaly' SubClassOf 'developmental defect during embryogenesis' 'larynx anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015503 nose and cavum anomaly 'nose and cavum anomaly' SubClassOf 'developmental defect during embryogenesis' 'nose and cavum anomaly' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0015525 congenital pseudoarthrosis of the limbs 'congenital pseudoarthrosis of the limbs' SubClassOf 'non-syndromic limb malformation' 'congenital pseudoarthrosis of the limbs' SubClassOf 'dysostosis of genetic origin' 'congenital pseudoarthrosis of the limbs' SubClassOf 'dysostosis' 'congenital pseudoarthrosis of the limbs' SubClassOf 'bearer_of' some 'congenital' 'congenital pseudoarthrosis of the limbs' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015524 hyperplastic polyposis syndrome 'hyperplastic polyposis syndrome' SubClassOf 'hereditary intestinal polyposis' 'hyperplastic polyposis syndrome' SubClassOf 'intestinal polyposis syndrome' 'hyperplastic polyposis syndrome' SubClassOf 'digestive system disease' 'hyperplastic polyposis syndrome' SubClassOf 'intestinal polyposis syndrome' http://purl.obolibrary.org/obo/MONDO_0015310 syndromic optic nerve hypoplasia 'syndromic optic nerve hypoplasia' SubClassOf 'hereditary optic neuropathy' 'syndromic optic nerve hypoplasia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome 'cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'syndromic anorectal malformation' 'cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015323 teratogenic Pierre Robin syndrome 'teratogenic Pierre Robin syndrome' SubClassOf 'disorder of development or morphogenesis' 'teratogenic Pierre Robin syndrome' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0030977 neuropathy, hereditary motor, with myopathic features 'neuropathy, hereditary motor, with myopathic features' SubClassOf 'genetic disorder' 'neuropathy, hereditary motor, with myopathic features' SubClassOf 'autosomal recessive distal hereditary motor neuropathy' http://purl.obolibrary.org/obo/MONDO_0030979 endove syndrome, limb-brain type 'endove syndrome, limb-brain type' SubClassOf 'EN1-related dorsoventral syndrome' 'endove syndrome, limb-brain type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015334 branchial arch or oral-acral syndrome 'branchial arch or oral-acral syndrome' SubClassOf 'developmental defect during embryogenesis' 'branchial arch or oral-acral syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015330 overgrowth/obesity syndrome 'overgrowth/obesity syndrome' SubClassOf 'developmental defect during embryogenesis' 'overgrowth/obesity syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015342 acute transverse myelitis 'acute transverse myelitis' SubClassOf 'disorder of medulla oblongata' http://purl.obolibrary.org/obo/MONDO_0015359 autosomal dominant hereditary demyelinating motor and sensory neuropathy 'autosomal dominant hereditary demyelinating motor and sensory neuropathy' SubClassOf 'autosomal dominant disease' 'autosomal dominant hereditary demyelinating motor and sensory neuropathy' SubClassOf 'demyelinating hereditary motor and sensory neuropathy' 'autosomal dominant hereditary demyelinating motor and sensory neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015354 hereditary sensory and autonomic neuropathy with deafness and global delay 'hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf 'autosomal recessive hereditary sensory and autonomic neuropathy' 'hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf 'genetic disorder' 'hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015353 neuronopathy, distal hereditary motor, type 5A 'neuronopathy, distal hereditary motor, type 5A' SubClassOf 'autosomal dominant distal hereditary motor neuropathy' http://purl.obolibrary.org/obo/MONDO_0015351 neuropathy with hearing impairment 'neuropathy with hearing impairment' SubClassOf 'autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'neuropathy with hearing impairment' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease 'neuro-ophthalmological disease' SubClassOf 'eye disease' 'neuro-ophthalmological disease' SubClassOf 'bearer_of' some 'rare' 'neuro-ophthalmological disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015367 Charlie M syndrome 'Charlie M syndrome' SubClassOf 'branchial arch or oral-acral syndrome' http://purl.obolibrary.org/obo/MONDO_0015366 autosomal recessive hereditary sensory and autonomic neuropathy 'autosomal recessive hereditary sensory and autonomic neuropathy' SubClassOf 'autosomal recessive disease' 'autosomal recessive hereditary sensory and autonomic neuropathy' SubClassOf 'hereditary sensory and autonomic neuropathy' 'autosomal recessive hereditary sensory and autonomic neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015361 autosomal recessive hereditary demyelinating motor and sensory neuropathy 'autosomal recessive hereditary demyelinating motor and sensory neuropathy' SubClassOf 'autosomal recessive disease' 'autosomal recessive hereditary demyelinating motor and sensory neuropathy' SubClassOf 'demyelinating hereditary motor and sensory neuropathy' 'autosomal recessive hereditary demyelinating motor and sensory neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015360 autosomal dominant hereditary axonal motor and sensory neuropathy 'autosomal dominant hereditary axonal motor and sensory neuropathy' SubClassOf 'autosomal dominant disease' 'autosomal dominant hereditary axonal motor and sensory neuropathy' SubClassOf 'axonal hereditary motor and sensory neuropathy' 'autosomal dominant hereditary axonal motor and sensory neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015365 autosomal dominant hereditary sensory and autonomic neuropathy 'autosomal dominant hereditary sensory and autonomic neuropathy' SubClassOf 'autosomal dominant disease' 'autosomal dominant hereditary sensory and autonomic neuropathy' SubClassOf 'hereditary sensory and autonomic neuropathy' 'autosomal dominant hereditary sensory and autonomic neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015363 autosomal recessive distal hereditary motor neuropathy 'autosomal recessive distal hereditary motor neuropathy' SubClassOf 'neuronopathy, distal hereditary motor' http://purl.obolibrary.org/obo/MONDO_0015362 autosomal dominant distal hereditary motor neuropathy 'autosomal dominant distal hereditary motor neuropathy' SubClassOf 'neuronopathy, distal hereditary motor' http://purl.obolibrary.org/obo/MONDO_0015372 autosomal dominant macrothrombocytopenia 'autosomal dominant macrothrombocytopenia' SubClassOf 'isolated hereditary giant platelet disorder' 'autosomal dominant macrothrombocytopenia' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0015375 orofaciodigital syndrome 'orofaciodigital syndrome' SubClassOf 'branchial arch or oral-acral syndrome' http://purl.obolibrary.org/obo/MONDO_0015374 primary central nervous system vasculitis 'primary central nervous system vasculitis' SubClassOf 'predominantly medium-vessel vasculitis' 'primary central nervous system vasculitis' SubClassOf 'central nervous system vasculitis' http://purl.obolibrary.org/obo/CL_0000235 macrophage 'macrophage' SubClassOf 'mononuclear cell' http://purl.obolibrary.org/obo/MONDO_0015394 nasal encephalocele 'nasal encephalocele' SubClassOf 'nose and cavum anomaly' 'nasal encephalocele' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0015398 hemifacial microsomia 'hemifacial microsomia' SubClassOf 'oculo-auriculo-vertebral spectrum' 'hemifacial microsomia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015397 oculo-auriculo-vertebral spectrum 'oculo-auriculo-vertebral spectrum' SubClassOf 'hereditary otorhinolaryngologic disease' 'oculo-auriculo-vertebral spectrum' SubClassOf 'otomandibular dysplasia' 'oculo-auriculo-vertebral spectrum' SubClassOf 'dysostosis with predominant craniofacial involvement' http://www.ebi.ac.uk/efo/EFO_0006623 KP-4 'KP-4' SubClassOf 'bearer_of' some 'pancreatic ductal adenocarcinoma' 'KP-4' SubClassOf 'bearer_of' some http://purl.obolibrary.org/obo/MONDO_0005184 http://www.ebi.ac.uk/efo/EFO_0006656 mPAC L20 'mPAC L20' SubClassOf 'bearer_of' some 'pancreatic ductal adenocarcinoma' 'mPAC L20' SubClassOf 'bearer_of' some http://purl.obolibrary.org/obo/MONDO_0005184 http://purl.obolibrary.org/obo/MONDO_0015405 cerebrofacial arteriovenous metameric syndrome 'cerebrofacial arteriovenous metameric syndrome' SubClassOf 'neurovascular disorder' 'cerebrofacial arteriovenous metameric syndrome' SubClassOf 'nervous system benign neoplasm' 'cerebrofacial arteriovenous metameric syndrome' SubClassOf 'neurovascular malformation' 'cerebrofacial arteriovenous metameric syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015209 non-syndromic gastroduodenal malformation 'non-syndromic gastroduodenal malformation' SubClassOf 'bearer_of' some 'has an isolated presentation' 'non-syndromic gastroduodenal malformation' EquivalentTo 'gastroduodenal malformation' and ('bearer_of' some 'has an isolated presentation') 'non-syndromic gastroduodenal malformation' SubClassOf 'gastroduodenal malformation' 'non-syndromic gastroduodenal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015201 ankyloblepharon filiforme-imperforate anus syndrome 'ankyloblepharon filiforme-imperforate anus syndrome' SubClassOf 'syndromic anorectal malformation' 'ankyloblepharon filiforme-imperforate anus syndrome' SubClassOf 'syndromic ankyloblepharon' 'ankyloblepharon filiforme-imperforate anus syndrome' SubClassOf 'developmental defect during embryogenesis' 'ankyloblepharon filiforme-imperforate anus syndrome' SubClassOf 'disorder of visual system' 'ankyloblepharon filiforme-imperforate anus syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015208 syndromic esophageal malformation 'syndromic esophageal malformation' EquivalentTo 'esophageal malformation' and ('bearer_of' some 'has a syndromic presentation') 'syndromic esophageal malformation' SubClassOf 'esophageal malformation' 'syndromic esophageal malformation' SubClassOf 'syndromic disease' 'syndromic esophageal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015207 non-syndromic esophageal malformation 'non-syndromic esophageal malformation' SubClassOf 'bearer_of' some 'has an isolated presentation' 'non-syndromic esophageal malformation' SubClassOf 'esophageal malformation' 'non-syndromic esophageal malformation' EquivalentTo 'esophageal malformation' and ('bearer_of' some 'has an isolated presentation') 'non-syndromic esophageal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015214 syndromic visceral malformation 'syndromic visceral malformation' SubClassOf 'visceral malformation of the liver, biliary tract, pancreas or spleen' 'syndromic visceral malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015213 non-syndromic visceral malformation 'non-syndromic visceral malformation' SubClassOf 'visceral malformation of the liver, biliary tract, pancreas or spleen' 'non-syndromic visceral malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015212 syndromic intestinal malformation 'syndromic intestinal malformation' EquivalentTo 'intestinal malformation' and ('bearer_of' some 'has a syndromic presentation') 'syndromic intestinal malformation' SubClassOf 'syndromic disease' 'syndromic intestinal malformation' SubClassOf 'intestinal malformation' 'syndromic intestinal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015219 non-syndromic central nervous system malformation 'non-syndromic central nervous system malformation' SubClassOf 'central nervous system malformation' 'non-syndromic central nervous system malformation' EquivalentTo 'central nervous system malformation' and ('bearer_of' some 'has an isolated presentation') 'non-syndromic central nervous system malformation' SubClassOf 'bearer_of' some 'has an isolated presentation' 'non-syndromic central nervous system malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015217 non-syndromic developmental defect of the eye 'non-syndromic developmental defect of the eye' SubClassOf 'developmental defect of the eye' 'non-syndromic developmental defect of the eye' SubClassOf 'bearer_of' some 'has an isolated presentation' 'non-syndromic developmental defect of the eye' EquivalentTo 'developmental defect of the eye' and ('bearer_of' some 'has an isolated presentation') 'non-syndromic developmental defect of the eye' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015211 non-syndromic intestinal malformation 'non-syndromic intestinal malformation' SubClassOf 'bearer_of' some 'has an isolated presentation' 'non-syndromic intestinal malformation' SubClassOf 'intestinal malformation' 'non-syndromic intestinal malformation' EquivalentTo 'intestinal malformation' and ('bearer_of' some 'has an isolated presentation') 'non-syndromic intestinal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015210 syndromic gastroduodenal malformation 'syndromic gastroduodenal malformation' SubClassOf 'gastroduodenal malformation' 'syndromic gastroduodenal malformation' EquivalentTo 'gastroduodenal malformation' and ('bearer_of' some 'has a syndromic presentation') 'syndromic gastroduodenal malformation' SubClassOf 'syndromic disease' 'syndromic gastroduodenal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015227 non-syndromic limb malformation 'non-syndromic limb malformation' SubClassOf 'congenital limb malformation' 'non-syndromic limb malformation' SubClassOf 'bearer_of' some 'rare' 'non-syndromic limb malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015222 syndromic respiratory or mediastinal malformation 'syndromic respiratory or mediastinal malformation' SubClassOf 'syndromic disease' 'syndromic respiratory or mediastinal malformation' SubClassOf 'bearer_of' some 'rare' 'syndromic respiratory or mediastinal malformation' EquivalentTo 'respiratory or mediastinal malformation' and ('bearer_of' some 'has a syndromic presentation') 'syndromic respiratory or mediastinal malformation' SubClassOf 'respiratory or mediastinal malformation' http://purl.obolibrary.org/obo/MONDO_0015221 non-syndromic respiratory or mediastinal malformation 'non-syndromic respiratory or mediastinal malformation' EquivalentTo 'respiratory or mediastinal malformation' and ('bearer_of' some 'has an isolated presentation') 'non-syndromic respiratory or mediastinal malformation' SubClassOf 'bearer_of' some 'has an isolated presentation' 'non-syndromic respiratory or mediastinal malformation' SubClassOf 'respiratory or mediastinal malformation' 'non-syndromic respiratory or mediastinal malformation' SubClassOf 'bearer_of' some 'rare' 'non-syndromic respiratory or mediastinal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015236 aortic arch defects 'aortic arch defects' SubClassOf 'syndromic respiratory or mediastinal malformation' 'aortic arch defects' SubClassOf 'respiratory malformation' http://purl.obolibrary.org/obo/MONDO_0015238 arrhinia-choanal atresia-microphthalmia syndrome 'arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf 'nose and cavum anomaly' 'arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf 'hereditary otorhinolaryngological malformation' http://purl.obolibrary.org/obo/MONDO_0015232 radial deficiency-tibial hypoplasia syndrome 'radial deficiency-tibial hypoplasia syndrome' SubClassOf 'dysostosis of genetic origin' 'radial deficiency-tibial hypoplasia syndrome' SubClassOf 'dysostosis' 'radial deficiency-tibial hypoplasia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation 'syndromic anorectal malformation' EquivalentTo 'anorectal malformation' and ('bearer_of' some 'has a syndromic presentation') 'syndromic anorectal malformation' SubClassOf 'syndromic disease' 'syndromic anorectal malformation' SubClassOf 'anorectal malformation' 'syndromic anorectal malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome 'spinal atrophy-ophthalmoplegia-pyramidal syndrome' SubClassOf 'generalized bulbospinal muscular atrophy' 'spinal atrophy-ophthalmoplegia-pyramidal syndrome' SubClassOf 'bulbospinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0015255 blepharophimosis-radioulnar synostosis syndrome 'blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'dysostosis of genetic origin' 'blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'eyelids malposition disorder' 'blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'dysostosis' 'blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'syndromic disease' 'blepharophimosis-radioulnar synostosis syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015268 medullary sponge kidney 'medullary sponge kidney' SubClassOf 'non-syndromic renal or urinary tract malformation' 'medullary sponge kidney' SubClassOf 'disorder of development or morphogenesis' 'medullary sponge kidney' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015267 Feingold syndrome 'Feingold syndrome' SubClassOf 'syndromic gastroduodenal malformation' 'Feingold syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Feingold syndrome' SubClassOf 'syndromic esophageal malformation' 'Feingold syndrome' SubClassOf 'congenital limb malformation' 'Feingold syndrome' SubClassOf 'syndromic respiratory or mediastinal malformation' 'Feingold syndrome' SubClassOf 'dysostosis of genetic origin' 'Feingold syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015273 complete atrioventricular canal 'complete atrioventricular canal' SubClassOf 'hereditary cardiac anomaly' http://purl.obolibrary.org/obo/MONDO_0015285 Carney complex 'Carney complex' SubClassOf 'disease has feature' some 'inherited cardiac tumor' 'Carney complex' SubClassOf 'disease has feature' some 'palpebral lentiginosis' 'Carney complex' SubClassOf 'disease has feature' some 'mesenchymatous palpebral tumor' http://purl.obolibrary.org/obo/MONDO_0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome 'intractable diarrhea-choanal atresia-eye anomalies syndrome' SubClassOf 'intractable diarrhea of infancy' 'intractable diarrhea-choanal atresia-eye anomalies syndrome' SubClassOf 'nose and cavum anomaly' 'intractable diarrhea-choanal atresia-eye anomalies syndrome' SubClassOf 'hereditary otorhinolaryngological malformation' 'intractable diarrhea-choanal atresia-eye anomalies syndrome' SubClassOf 'bearer_of' some 'rare' 'intractable diarrhea-choanal atresia-eye anomalies syndrome' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 'segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'vascular neoplasm' 'segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'inherited skin tumor' 'segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'hereditary vascular anomaly' 'segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'cardiovascular organ benign neoplasm' 'segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0015104 porphyria cutanea tarda 'porphyria cutanea tarda' SubClassOf 'chronic hepatic porphyria' 'porphyria cutanea tarda' SubClassOf 'hepatic porphyria' http://purl.obolibrary.org/obo/MONDO_0015111 gastroesophageal disease 'gastroesophageal disease' SubClassOf 'digestive system disease' 'gastroesophageal disease' SubClassOf 'bearer_of' some 'rare' 'gastroesophageal disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity 'primary immunodeficiency due to a genetic defect in innate immunity' SubClassOf 'bearer_of' some 'rare' 'primary immunodeficiency due to a genetic defect in innate immunity' SubClassOf 'inborn error of immunity' 'primary immunodeficiency due to a genetic defect in innate immunity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015130 acquired chronic primary adrenal insufficiency 'acquired chronic primary adrenal insufficiency' SubClassOf 'chronic primary adrenal insufficiency' 'acquired chronic primary adrenal insufficiency' SubClassOf 'bearer_of' some 'acquired' 'acquired chronic primary adrenal insufficiency' EquivalentTo 'chronic primary adrenal insufficiency' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0015134 constitutional neutropenia 'constitutional neutropenia' SubClassOf 'quantitative and/or qualitative congenital phagocyte defect' http://purl.obolibrary.org/obo/MONDO_0015133 quantitative and/or qualitative congenital phagocyte defect 'quantitative and/or qualitative congenital phagocyte defect' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'quantitative and/or qualitative congenital phagocyte defect' SubClassOf 'bearer_of' some 'congenital' 'quantitative and/or qualitative congenital phagocyte defect' SubClassOf 'phagocytic cell dysfunction' http://purl.obolibrary.org/obo/MONDO_0015132 immunodeficiency predominantly affecting antibody production 'immunodeficiency predominantly affecting antibody production' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' 'immunodeficiency predominantly affecting antibody production' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015131 combined immunodeficiency 'combined immunodeficiency' SubClassOf 'primary immunodeficiency due to a defect in adaptive immunity' http://purl.obolibrary.org/obo/MONDO_0015141 disorder of medulla oblongata 'disorder of medulla oblongata' SubClassOf 'brain disease' 'disorder of medulla oblongata' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015145 neurovascular malformation 'neurovascular malformation' SubClassOf 'disease has feature' some 'structural epilepsy' 'neurovascular malformation' SubClassOf 'nervous system disease' 'neurovascular malformation' SubClassOf 'bearer_of' some 'rare' 'neurovascular malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015144 brain inflammatory disease 'brain inflammatory disease' SubClassOf 'encephalomyelitis' 'brain inflammatory disease' SubClassOf 'brain disease' 'brain inflammatory disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0007610 tibial artery 'tibial artery' SubClassOf 'part of' some 'popliteal artery' http://purl.obolibrary.org/obo/MONDO_0015170 congenital sodium diarrhea 'congenital sodium diarrhea' SubClassOf 'congenital intestinal transport defect' http://purl.obolibrary.org/obo/MONDO_0015167 amniotic band syndrome 'amniotic band syndrome' SubClassOf 'non-syndromic terminal limb defects' 'amniotic band syndrome' SubClassOf 'dysostosis' 'amniotic band syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0015180 intestinal disease due to fat malabsorption 'intestinal disease due to fat malabsorption' SubClassOf 'bearer_of' some 'rare' 'intestinal disease due to fat malabsorption' SubClassOf 'malabsorption syndrome' 'intestinal disease due to fat malabsorption' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015179 intestinal disease due to vitamin absorption anomaly 'intestinal disease due to vitamin absorption anomaly' SubClassOf 'bearer_of' some 'rare' 'intestinal disease due to vitamin absorption anomaly' SubClassOf 'malabsorption syndrome' 'intestinal disease due to vitamin absorption anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015171 congenital enterocyte heparan sulfate deficiency 'congenital enterocyte heparan sulfate deficiency' SubClassOf 'congenital enteropathy involving intestinal mucosa development' 'congenital enterocyte heparan sulfate deficiency' SubClassOf 'bearer_of' some 'congenital' 'congenital enterocyte heparan sulfate deficiency' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0015178 congenital intestinal transport defect 'congenital intestinal transport defect' SubClassOf 'bearer_of' some 'rare' 'congenital intestinal transport defect' SubClassOf 'bearer_of' some 'congenital' 'congenital intestinal transport defect' SubClassOf 'intestinal disease' 'congenital intestinal transport defect' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015177 metaphyseal anadysplasia 'metaphyseal anadysplasia' SubClassOf 'multiple metaphyseal dysplasia' 'metaphyseal anadysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0015185 intestinal polyposis syndrome 'intestinal polyposis syndrome' SubClassOf 'inherited digestive cancer-predisposing syndrome' 'intestinal polyposis syndrome' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0015182 congenital enteropathy involving intestinal mucosa development 'congenital enteropathy involving intestinal mucosa development' SubClassOf 'intestinal disease' 'congenital enteropathy involving intestinal mucosa development' SubClassOf 'disorder of development or morphogenesis' 'congenital enteropathy involving intestinal mucosa development' SubClassOf 'bearer_of' some 'rare' 'congenital enteropathy involving intestinal mucosa development' SubClassOf 'bearer_of' some 'congenital' 'congenital enteropathy involving intestinal mucosa development' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015196 vein of Galen aneurysm 'vein of Galen aneurysm' SubClassOf 'neurovascular malformation' 'vein of Galen aneurysm' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015199 aniridia - intellectual disability syndrome 'aniridia - intellectual disability syndrome' SubClassOf 'syndromic aniridia' 'aniridia - intellectual disability syndrome' SubClassOf 'genetic disorder' 'aniridia - intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' 'aniridia - intellectual disability syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome 'aniridia-ptosis-intellectual disability-familial obesity syndrome' SubClassOf 'syndromic aniridia' 'aniridia-ptosis-intellectual disability-familial obesity syndrome' SubClassOf 'syndromic disease' 'aniridia-ptosis-intellectual disability-familial obesity syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0006888 vascular malformation 'vascular malformation' SubClassOf 'vascular anomaly' 'vascular malformation' SubClassOf 'congenital anomaly of cardiovascular system' 'vascular malformation' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'persistent combined dystonia' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'inherited dystonia' http://purl.obolibrary.org/obo/MONDO_0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity; 'spastic paraplegia, intellectual disability, nystagmus, and obesity;' SubClassOf 'syndromic genetic obesity' http://purl.obolibrary.org/obo/MONDO_0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders 'mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0015028 48,XXYY syndrome '48,XXYY syndrome' SubClassOf 'syndromic urogenital tract malformation' '48,XXYY syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015051 tubular duplication of the esophagus 'tubular duplication of the esophagus' SubClassOf 'duplication of the esophagus' 'tubular duplication of the esophagus' SubClassOf 'esophageal disease' http://purl.obolibrary.org/obo/MONDO_0015050 esophageal duplication cyst 'esophageal duplication cyst' SubClassOf 'duplication of the esophagus' 'esophageal duplication cyst' SubClassOf 'esophageal disease' http://purl.obolibrary.org/obo/MONDO_0015090 autosomal recessive pure spastic paraplegia 'autosomal recessive pure spastic paraplegia' SubClassOf 'autosomal recessive disease' 'autosomal recessive pure spastic paraplegia' SubClassOf 'pure hereditary spastic paraplegia' 'autosomal recessive pure spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015089 autosomal recessive complex spastic paraplegia 'autosomal recessive complex spastic paraplegia' SubClassOf 'autosomal recessive disease' 'autosomal recessive complex spastic paraplegia' SubClassOf 'complex hereditary spastic paraplegia' 'autosomal recessive complex spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015088 autosomal dominant pure spastic paraplegia 'autosomal dominant pure spastic paraplegia' SubClassOf 'autosomal dominant disease' 'autosomal dominant pure spastic paraplegia' SubClassOf 'pure hereditary spastic paraplegia' 'autosomal dominant pure spastic paraplegia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0005508 hereditary multiple osteochondromas 'hereditary multiple osteochondromas' SubClassOf 'disorder of O-xylosylglycan synthesis' 'hereditary multiple osteochondromas' SubClassOf 'congenital disorder of glycosylation-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0005514 nanophthalmia 'nanophthalmia' SubClassOf 'isolated microphthalmia' 'nanophthalmia' SubClassOf 'genetic disorder' 'nanophthalmia' SubClassOf 'microphthalmia' http://purl.obolibrary.org/obo/MONDO_0011299 Huntington disease-like 1 'Huntington disease-like 1' SubClassOf 'inherited prion disease' 'Huntington disease-like 1' SubClassOf 'prion disease' 'Huntington disease-like 1' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0011309 familial gestational hyperthyroidism 'familial gestational hyperthyroidism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011308 GRACILE syndrome 'GRACILE syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011339 hereditary spastic paraplegia 8 'hereditary spastic paraplegia 8' SubClassOf 'autosomal dominant pure spastic paraplegia' 'hereditary spastic paraplegia 8' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011334 limb-mammary syndrome 'limb-mammary syndrome' SubClassOf 'congenital limb malformation' 'limb-mammary syndrome' SubClassOf 'deficient breast volume or number' 'limb-mammary syndrome' SubClassOf 'ectrodactyly with and without other manifestations' 'limb-mammary syndrome' SubClassOf 'EEC syndrome and related syndrome' 'limb-mammary syndrome' SubClassOf 'dysostosis of genetic origin' 'limb-mammary syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0011335 spondyloepimetaphyseal dysplasia with multiple dislocations 'spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'primary bone dysplasia with multiple joint dislocations' http://purl.obolibrary.org/obo/MONDO_0011348 non-syndromic polydactyly 'non-syndromic polydactyly' SubClassOf 'non-syndromic polydactyly, syndactyly and/or hyperphalangy' http://purl.obolibrary.org/obo/MONDO_0011340 congenital tracheal stenosis 'congenital tracheal stenosis' SubClassOf 'hereditary otorhinolaryngological malformation' 'congenital tracheal stenosis' SubClassOf 'tracheal anomaly' 'congenital tracheal stenosis' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0011359 acromelic frontonasal dysostosis 'acromelic frontonasal dysostosis' SubClassOf 'dysostosis with predominant craniofacial involvement' http://purl.obolibrary.org/obo/MONDO_0011365 blepharophimosis - intellectual disability syndrome, SBBYS type 'blepharophimosis - intellectual disability syndrome, SBBYS type' SubClassOf 'syndromic hypothyroidism' 'blepharophimosis - intellectual disability syndrome, SBBYS type' SubClassOf 'syndromic disease' 'blepharophimosis - intellectual disability syndrome, SBBYS type' SubClassOf 'genetic disorder' 'blepharophimosis - intellectual disability syndrome, SBBYS type' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0011376 ventricular fibrillation, paroxysmal familial, type 1 'ventricular fibrillation, paroxysmal familial, type 1' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011382 sickle cell anemia 'sickle cell anemia' SubClassOf 'sickle cell disease and related diseases' 'sickle cell anemia' SubClassOf 'inherited hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0011396 loricrin keratoderma 'loricrin keratoderma' SubClassOf 'isolated diffuse palmoplantar keratoderma' 'loricrin keratoderma' SubClassOf 'autosomal dominant diffuse mutilating palmoplantar keratoderma' 'loricrin keratoderma' SubClassOf 'inherited non-syndromic ichthyosis' 'loricrin keratoderma' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0011399 alpha thalassemia 'alpha thalassemia' SubClassOf 'alpha-thalassemia and related diseases' http://purl.obolibrary.org/obo/MONDO_0011393 hypoalphalipoproteinemia, primary, 1 'hypoalphalipoproteinemia, primary, 1' SubClassOf 'apolipoprotein A-I deficiency' 'hypoalphalipoproteinemia, primary, 1' SubClassOf 'inborn errors of metabolism' 'hypoalphalipoproteinemia, primary, 1' SubClassOf 'hypoalphalipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0011184 childhood apraxia of speech 'childhood apraxia of speech' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 'PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome' SubClassOf 'syndromic genetic obesity' 'PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011198 spondyloepimetaphyseal dysplasia, Missouri type 'spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'multiple metaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011197 hereditary thermosensitive neuropathy 'hereditary thermosensitive neuropathy' SubClassOf 'autosomal dominant hereditary demyelinating motor and sensory neuropathy' 'hereditary thermosensitive neuropathy' SubClassOf 'hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0035162 PIK3CA-related overgrowth syndrome 'PIK3CA-related overgrowth syndrome' SubClassOf 'overgrowth syndrome' 'PIK3CA-related overgrowth syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011191 capillary infantile hemangioma 'capillary infantile hemangioma' SubClassOf 'hereditary vascular anomaly' 'capillary infantile hemangioma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011202 RHYNS syndrome 'RHYNS syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'RHYNS syndrome' SubClassOf 'disorder of visual system' 'RHYNS syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011218 autosomal recessive congenital ichthyosis 11 'autosomal recessive congenital ichthyosis 11' SubClassOf 'hereditary alopecia' http://purl.obolibrary.org/obo/MONDO_0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'hereditary otorhinolaryngological malformation' 'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'syndrome with synostosis or other joint formation defect' 'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'hereditary otorhinolaryngologic disease' 'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0011229 ethylmalonic encephalopathy 'ethylmalonic encephalopathy' SubClassOf 'unspecified inborn mitochondrial disorder' 'ethylmalonic encephalopathy' SubClassOf 'mitochondrial disease' http://purl.obolibrary.org/obo/MONDO_0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome 'pelvic dysplasia-arthrogryposis of lower limbs syndrome' SubClassOf 'dysostosis of genetic origin' 'pelvic dysplasia-arthrogryposis of lower limbs syndrome' SubClassOf 'dysostosis' 'pelvic dysplasia-arthrogryposis of lower limbs syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011244 Marshall-Smith syndrome 'Marshall-Smith syndrome' SubClassOf 'overgrowth or tall stature syndrome with skeletal involvement' 'Marshall-Smith syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011243 grange syndrome 'grange syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011248 distal monosomy 13q 'distal monosomy 13q' SubClassOf 'syndromic anorectal malformation' 'distal monosomy 13q' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011240 megalencephaly-capillary malformation-polymicrogyria syndrome 'megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'PIK3CA-related overgrowth syndrome' 'megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome 'mandibulofacial dysostosis-macroblepharon-macrostomia syndrome' SubClassOf 'dysostosis of genetic origin' 'mandibulofacial dysostosis-macroblepharon-macrostomia syndrome' SubClassOf 'hereditary otorhinolaryngologic disease' 'mandibulofacial dysostosis-macroblepharon-macrostomia syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'mandibulofacial dysostosis-macroblepharon-macrostomia syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0011257 MPI-congenital disorder of glycosylation 'MPI-congenital disorder of glycosylation' SubClassOf 'syndromic lymphedema' 'MPI-congenital disorder of glycosylation' SubClassOf 'syndromic disease' 'MPI-congenital disorder of glycosylation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011266 myotonic dystrophy type 2 'myotonic dystrophy type 2' SubClassOf 'eyelids malposition disorder' 'myotonic dystrophy type 2' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 'renal tubular acidosis, distal, 3, with or without sensorineural hearing loss' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0011273 H syndrome 'H syndrome' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0011054 autosomal recessive amelia 'autosomal recessive amelia' SubClassOf 'dysostosis of genetic origin' 'autosomal recessive amelia' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0011060 early-onset non-syndromic cataract 'early-onset non-syndromic cataract' SubClassOf 'non-syndromic developmental defect of the eye' 'early-onset non-syndromic cataract' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011062 aprosencephaly cerebellar dysgenesis 'aprosencephaly cerebellar dysgenesis' SubClassOf 'midline cerebral malformation' 'aprosencephaly cerebellar dysgenesis' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0011064 lethal chondrodysplasia, Seller type 'lethal chondrodysplasia, Seller type' SubClassOf 'lethal chondrodysplasia' 'lethal chondrodysplasia, Seller type' SubClassOf 'skeletal dysplasia' 'lethal chondrodysplasia, Seller type' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0011079 rhizomelic dysplasia, Patterson-Lowry type 'rhizomelic dysplasia, Patterson-Lowry type' SubClassOf 'mesomelic and rhizo-mesomelic dysplasia' 'rhizomelic dysplasia, Patterson-Lowry type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' SubClassOf 'isolated constitutional thrombocytopenia' 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' SubClassOf 'dense granule disease' http://purl.obolibrary.org/obo/MONDO_0011090 isolated hereditary congenital facial paralysis 'isolated hereditary congenital facial paralysis' SubClassOf 'cranial nerve and nuclear aplasia' 'isolated hereditary congenital facial paralysis' SubClassOf 'paralytic facial malformation' 'isolated hereditary congenital facial paralysis' SubClassOf 'congenital nervous system disorder' 'isolated hereditary congenital facial paralysis' SubClassOf 'congenital nervous system disorder' http://www.orpha.net/ORDO/Orphanet_284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 'Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia' SubClassOf 'hereditary neuro-ophthalmological disease' 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 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011116 lung agenesis-heart defect-thumb anomalies syndrome 'lung agenesis-heart defect-thumb anomalies syndrome' SubClassOf 'respiratory malformation' 'lung agenesis-heart defect-thumb anomalies syndrome' SubClassOf 'syndromic respiratory or mediastinal malformation' 'lung agenesis-heart defect-thumb anomalies syndrome' SubClassOf 'respiratory system disease' 'lung agenesis-heart defect-thumb anomalies syndrome' SubClassOf 'syndromic disease' 'lung agenesis-heart defect-thumb anomalies syndrome' SubClassOf 'disorder of development or morphogenesis' 'lung agenesis-heart defect-thumb anomalies syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'disorder of O-xylosylglycan synthesis' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome 'colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome' SubClassOf 'syndromic microphthalmia' 'colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome' SubClassOf 'syndromic genetic obesity' http://purl.obolibrary.org/obo/MONDO_0011146 tetrasomy 12p 'tetrasomy 12p' SubClassOf 'syndromic anorectal malformation' 'tetrasomy 12p' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011154 acrofacial dysostosis, Palagonia type 'acrofacial dysostosis, Palagonia type' SubClassOf 'branchial arch or oral-acral syndrome' http://purl.obolibrary.org/obo/MONDO_0011150 acroosteolysis-keloid-like lesions-premature aging syndrome 'acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011166 lymphedema-atrial septal defects-facial changes syndrome 'lymphedema-atrial septal defects-facial changes syndrome' SubClassOf 'syndromic lymphedema' 'lymphedema-atrial septal defects-facial changes syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011169 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 'autosomal dominant diffuse mutilating palmoplantar keratoderma' 'keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'isolated diffuse palmoplantar keratoderma' 'keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'epidermal disease' 'keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'hereditary skin disorder' http://www.orpha.net/ORDO/Orphanet_284271 Autosomal recessive cerebellar ataxia - psychomotor retardation 'Autosomal recessive cerebellar ataxia - psychomotor retardation' SubClassOf 'hereditary neuro-ophthalmological disease' http://www.orpha.net/ORDO/Orphanet_284289 Adult-onset autosomal recessive cerebellar ataxia 'Adult-onset autosomal recessive cerebellar ataxia' SubClassOf 'hereditary neuro-ophthalmological disease' http://www.orpha.net/ORDO/Orphanet_98694 Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly 'Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly' SubClassOf 'neuro-ophthalmological disease' 'Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly' SubClassOf 'Rare genetic neurological disorder' http://www.orpha.net/ORDO/Orphanet_98693 Spinocerebellar ataxia with oculomotor anomaly 'Spinocerebellar ataxia with oculomotor anomaly' SubClassOf 'neuro-ophthalmological disease' 'Spinocerebellar ataxia with oculomotor anomaly' SubClassOf 'Rare genetic neurological disorder' http://purl.obolibrary.org/obo/MONDO_0011002 neuropathy, hereditary motor and sensory, type 6A 'neuropathy, hereditary motor and sensory, type 6A' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0011011 skeletal dysplasia-epilepsy-short stature syndrome 'skeletal dysplasia-epilepsy-short stature syndrome' SubClassOf 'dysostosis of genetic origin' 'skeletal dysplasia-epilepsy-short stature syndrome' SubClassOf 'skeletal dysplasia' 'skeletal dysplasia-epilepsy-short stature syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011010 Matthew-Wood syndrome 'Matthew-Wood syndrome' SubClassOf 'syndromic respiratory or mediastinal malformation' 'Matthew-Wood syndrome' SubClassOf 'respiratory malformation' http://purl.obolibrary.org/obo/MONDO_0011023 hereditary mixed polyposis syndrome 'hereditary mixed polyposis syndrome' SubClassOf 'intestinal polyposis syndrome' 'hereditary mixed polyposis syndrome' SubClassOf 'hereditary intestinal polyposis' 'hereditary mixed polyposis syndrome' SubClassOf 'intestinal polyposis syndrome' 'hereditary mixed polyposis syndrome' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0025511 inherited neuroendocrine tumor 'inherited neuroendocrine tumor' SubClassOf 'genetic disorder' 'inherited neuroendocrine tumor' SubClassOf 'bearer_of' some 'rare' 'inherited neuroendocrine tumor' EquivalentTo 'neuroendocrine neoplasm' and ('bearer_of' some 'inherited') 'inherited neuroendocrine tumor' SubClassOf 'neuroendocrine neoplasm' 'inherited neuroendocrine tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_88632 Familial ocular anterior segment mesenchymal dysgenesis 'Familial ocular anterior segment mesenchymal dysgenesis' SubClassOf 'developmental defect of the eye' http://www.orpha.net/ORDO/Orphanet_88628 Posterior column ataxia - retinitis pigmentosa 'Posterior column ataxia - retinitis pigmentosa' SubClassOf 'hereditary neuro-ophthalmological disease' http://www.orpha.net/ORDO/Orphanet_98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect 'Autosomal recessive cerebellar ataxia due to a DNA repair defect' SubClassOf 'hereditary neuro-ophthalmological disease' http://www.ebi.ac.uk/efo/EFO_0006392 FA6 'FA6' SubClassOf 'bearer_of' some 'pancreatic ductal adenocarcinoma' 'FA6' SubClassOf 'bearer_of' some http://purl.obolibrary.org/obo/MONDO_0005184 http://purl.obolibrary.org/obo/MONDO_0015902 major hypertriglyceridemia 'major hypertriglyceridemia' SubClassOf 'bearer_of' some 'rare' 'major hypertriglyceridemia' SubClassOf 'hyperlipidemia' 'major hypertriglyceridemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015915 cerebellar malformation 'cerebellar malformation' SubClassOf 'posterior fossa malformation' 'cerebellar malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015926 pneumoconiosis 'pneumoconiosis' SubClassOf 'primary interstitial lung disease specific to adulthood' 'pneumoconiosis' SubClassOf 'interstitial lung disease' http://purl.obolibrary.org/obo/MONDO_0015921 ARX-related epileptic encephalopathy 'ARX-related epileptic encephalopathy' SubClassOf 'monogenic epilepsy' 'ARX-related epileptic encephalopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015930 respiratory malformation 'respiratory malformation' SubClassOf 'respiratory or thoracic malformation' 'respiratory malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015933 non-syndromic urogenital tract malformation of male 'non-syndromic urogenital tract malformation of male' SubClassOf 'male reproductive system disease' 'non-syndromic urogenital tract malformation of male' SubClassOf 'non-syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0015932 non-syndromic urogenital tract malformation of female 'non-syndromic urogenital tract malformation of female' SubClassOf 'female reproductive system disease' 'non-syndromic urogenital tract malformation of female' SubClassOf 'non-syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0015944 axial mesodermal dysplasia spectrum 'axial mesodermal dysplasia spectrum' SubClassOf 'syndromic anorectal malformation' 'axial mesodermal dysplasia spectrum' SubClassOf 'disorder of development or morphogenesis' 'axial mesodermal dysplasia spectrum' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0001309 oculomotor nerve paralysis 'oculomotor nerve paralysis' SubClassOf 'neuro-ophthalmological disease' 'oculomotor nerve paralysis' SubClassOf 'disorder of visual system' http://purl.obolibrary.org/obo/MONDO_0015950 inherited skin tumor 'inherited skin tumor' SubClassOf 'skin neoplasm' 'inherited skin tumor' SubClassOf 'hereditary skin disorder' 'inherited skin tumor' SubClassOf 'bearer_of' some 'rare' 'inherited skin tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015961 hereditary head and neck malformation 'hereditary head and neck malformation' SubClassOf 'bearer_of' some 'rare' 'hereditary head and neck malformation' SubClassOf 'disorder of development or morphogenesis' 'hereditary head and neck malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015978 functional neutrophil defect 'functional neutrophil defect' SubClassOf 'quantitative and/or qualitative congenital phagocyte defect' 'functional neutrophil defect' SubClassOf 'leukocyte disorder' http://purl.obolibrary.org/obo/MONDO_0015977 agammaglobulinemia 'agammaglobulinemia' SubClassOf 'immunodeficiency predominantly affecting antibody production' http://purl.obolibrary.org/obo/MONDO_0015976 hyper-IgM syndrome without susceptibility to opportunistic infections 'hyper-IgM syndrome with susceptibility to opportunistic infections' DisjointWith 'hyper-IgM syndrome without susceptibility to opportunistic infections' 'hyper-IgM syndrome without susceptibility to opportunistic infections' SubClassOf 'hyper-IgM syndrome' 'hyper-IgM syndrome without susceptibility to opportunistic infections' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015975 hyper-IgM syndrome with susceptibility to opportunistic infections 'hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf 'hyper-IgM syndrome' 'hyper-IgM syndrome with susceptibility to opportunistic infections' DisjointWith 'hyper-IgM syndrome without susceptibility to opportunistic infections' 'hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015988 multicystic dysplastic kidney 'multicystic dysplastic kidney' SubClassOf 'non-syndromic renal or urinary tract malformation' 'multicystic dysplastic kidney' SubClassOf 'disorder of development or morphogenesis' 'multicystic dysplastic kidney' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015995 melorheostosis with osteopoikilosis 'melorheostosis with osteopoikilosis' SubClassOf 'Buschke-Ollendorff syndrome' 'melorheostosis with osteopoikilosis' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0015774 thoraco-abdominal enteric duplication 'thoraco-abdominal enteric duplication' SubClassOf 'syndromic intestinal malformation' 'thoraco-abdominal enteric duplication' SubClassOf 'syndromic disease' 'thoraco-abdominal enteric duplication' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0015778 syndromic hypothyroidism 'syndromic hypothyroidism' EquivalentTo 'hypothyroidism' and ('bearer_of' some 'has a syndromic presentation') 'syndromic hypothyroidism' SubClassOf 'permanent congenital hypothyroidism' 'syndromic hypothyroidism' SubClassOf 'syndromic disease' 'syndromic hypothyroidism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015770 congenital hypogonadotropic hypogonadism 'congenital hypogonadotropic hypogonadism' SubClassOf 'anomaly of puberty or/and menstrual cycle of genetic origin' http://purl.obolibrary.org/obo/MONDO_0001149 microcephaly 'microcephaly' SubClassOf 'cerebral malformation' 'microcephaly' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0025193 oculopharyngodistal myopathy 'oculopharyngodistal myopathy' SubClassOf 'eyelids malposition disorder' http://purl.obolibrary.org/obo/UBERON_0003086 caudal artery 'caudal artery' SubClassOf 'part of' some 'trunk' http://purl.obolibrary.org/obo/MONDO_0015817 aggressive primary cutaneous T-cell lymphoma 'aggressive primary cutaneous T-cell lymphoma' SubClassOf 'primary cutaneous T-cell lymphoma' http://purl.obolibrary.org/obo/MONDO_0015819 indolent primary cutaneous B-cell lymphoma 'indolent primary cutaneous B-cell lymphoma' SubClassOf 'primary cutaneous B-cell lymphoma' 'indolent primary cutaneous B-cell lymphoma' SubClassOf 'primary cutaneous B-cell lymphoma' http://purl.obolibrary.org/obo/MONDO_0015818 aggressive primary cutaneous B-cell lymphoma 'aggressive primary cutaneous B-cell lymphoma' SubClassOf 'aggressive B-cell non-Hodgkin lymphoma' 'aggressive primary cutaneous B-cell lymphoma' SubClassOf 'primary cutaneous B-cell lymphoma' 'aggressive primary cutaneous B-cell lymphoma' SubClassOf 'immune system cancer' http://purl.obolibrary.org/obo/MONDO_0015828 uterovaginal malformation 'uterovaginal malformation' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0015827 distal renal tubular acidosis 'distal renal tubular acidosis' SubClassOf 'primary renal tubular acidosis' 'distal renal tubular acidosis' SubClassOf 'inherited kidney disorder' http://purl.obolibrary.org/obo/MONDO_0015829 non-syndromic uterovaginal malformation 'non-syndromic uterovaginal malformation' EquivalentTo 'uterovaginal malformation' and ('bearer_of' some 'has an isolated presentation') 'non-syndromic uterovaginal malformation' SubClassOf 'non-syndromic urogenital tract malformation of female' 'non-syndromic uterovaginal malformation' SubClassOf 'uterovaginal malformation' http://purl.obolibrary.org/obo/MONDO_0015824 oculomaxillofacial dysostosis 'oculomaxillofacial dysostosis' SubClassOf 'dysostosis of genetic origin' 'oculomaxillofacial dysostosis' SubClassOf 'dysostosis' 'oculomaxillofacial dysostosis' SubClassOf 'disorder of facial skeleton' 'oculomaxillofacial dysostosis' SubClassOf 'genetic disorder' 'oculomaxillofacial dysostosis' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity 'primary immunodeficiency due to a defect in adaptive immunity' SubClassOf 'inborn error of immunity' 'primary immunodeficiency due to a defect in adaptive immunity' SubClassOf 'bearer_of' some 'rare' 'primary immunodeficiency due to a defect in adaptive immunity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015822 acquired neutropenia 'acquired neutropenia' SubClassOf 'acquired immunodeficiency' 'acquired neutropenia' EquivalentTo 'neutropenia' and ('bearer_of' some 'acquired') 'acquired neutropenia' SubClassOf 'neutropenia' 'acquired neutropenia' SubClassOf 'bearer_of' some 'acquired' 'acquired neutropenia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015842 bicornuate uterus 'bicornuate uterus' SubClassOf 'non-syndromic uterovaginal malformation' 'bicornuate uterus' SubClassOf 'disorder of development or morphogenesis' 'bicornuate uterus' SubClassOf 'uterine disorder' http://purl.obolibrary.org/obo/MONDO_0015846 syndromic uterovaginal malformation 'syndromic uterovaginal malformation' EquivalentTo 'uterovaginal malformation' and ('bearer_of' some 'has a syndromic presentation') 'syndromic uterovaginal malformation' SubClassOf 'uterovaginal malformation' 'syndromic uterovaginal malformation' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015843 uterine hypoplasia 'uterine hypoplasia' SubClassOf 'non-syndromic uterovaginal malformation' 'uterine hypoplasia' SubClassOf 'uterine disorder' 'uterine hypoplasia' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0015853 deficient breast volume or number 'deficient breast volume or number' SubClassOf 'female reproductive system disease' 'deficient breast volume or number' SubClassOf 'breast disease' http://purl.obolibrary.org/obo/MONDO_0015852 excess breast volume or number 'excess breast volume or number' SubClassOf 'breast disease' 'excess breast volume or number' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0015856 syndromic breast hypoplasia/aplasia 'syndromic breast hypoplasia/aplasia' SubClassOf 'deficient breast volume or number' 'syndromic breast hypoplasia/aplasia' SubClassOf 'breast disease' http://purl.obolibrary.org/obo/MONDO_0015855 isolated congenital breast hypoplasia/aplasia 'isolated congenital breast hypoplasia/aplasia' SubClassOf 'deficient breast volume or number' 'isolated congenital breast hypoplasia/aplasia' SubClassOf 'breast disease' http://purl.obolibrary.org/obo/MONDO_0015860 anomaly of puberty or/and menstrual cycle 'anomaly of puberty or/and menstrual cycle' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0021081 anti-NMDA receptor encephalitis 'anti-NMDA receptor encephalitis' SubClassOf 'encephalitis' 'anti-NMDA receptor encephalitis' SubClassOf 'antibody mediated epilepsy' http://www.ebi.ac.uk/efo/EFO_0700030 syndromic anorectal malformation 'syndromic anorectal malformation' SubClassOf 'digestive tract malformation' http://www.ebi.ac.uk/efo/EFO_0700022 lysosomal acid lipase deficiency 'lysosomal acid lipase deficiency' SubClassOf 'syndromic dyslipidemia' 'lysosomal acid lipase deficiency' SubClassOf 'lysosomal lipid storage disorder' http://www.ebi.ac.uk/efo/EFO_0700023 bleeding diathesis due to thromboxane synthesis deficiency 'bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'inherited disease susceptibility' 'bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.ebi.ac.uk/efo/EFO_0700020 Birt-Hogg-Dube syndrome 'Birt-Hogg-Dube syndrome' SubClassOf 'autosomal dominant disease' 'Birt-Hogg-Dube syndrome' SubClassOf 'inherited kidney disorder' 'Birt-Hogg-Dube syndrome' SubClassOf 'kidney neoplasm' http://www.ebi.ac.uk/efo/EFO_0700021 autosomal recessive Emery-Dreifuss muscular dystrophy 'autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf 'autosomal recessive disease' 'autosomal recessive Emery-Dreifuss muscular dystrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' http://www.ebi.ac.uk/efo/EFO_0700026 autosomal dominant pure spastic paraplegia 'autosomal dominant pure spastic paraplegia' SubClassOf 'autosomal dominant disease' 'autosomal dominant pure spastic paraplegia' SubClassOf 'pure hereditary spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0700027 autosomal recessive complex spastic paraplegia 'autosomal recessive complex spastic paraplegia' SubClassOf 'autosomal recessive disease' 'autosomal recessive complex spastic paraplegia' SubClassOf 'complex hereditary spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0700024 familial mesial temporal lobe epilepsy with febrile seizures 'familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'familial partial epilepsy' 'familial mesial temporal lobe epilepsy with febrile seizures' SubClassOf 'febrile seizures, familial' http://www.ebi.ac.uk/efo/EFO_0700025 autosomal recessive optic atrophy 'autosomal recessive optic atrophy' SubClassOf 'hereditary optic neuropathy' 'autosomal recessive optic atrophy' SubClassOf 'eye degenerative disorder' 'autosomal recessive optic atrophy' SubClassOf 'autosomal recessive disease' 'autosomal recessive optic atrophy' SubClassOf 'hereditary optic atrophy' http://www.ebi.ac.uk/efo/EFO_0700028 gastroesophageal disease 'gastroesophageal disease' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0700029 brain inflammatory disease 'brain inflammatory disease' SubClassOf 'midline cerebral malformation' http://www.ebi.ac.uk/efo/EFO_0700040 syndromic hypothyroidism 'syndromic hypothyroidism' SubClassOf 'vascular anomaly' http://www.ebi.ac.uk/efo/EFO_0700041 acquired neutropenia 'acquired neutropenia' SubClassOf 'acquired immunodeficiency' 'acquired neutropenia' SubClassOf 'neutropenia' http://www.ebi.ac.uk/efo/EFO_0700033 autosomal dominant hereditary sensory and autonomic neuropathy 'autosomal dominant hereditary sensory and autonomic neuropathy' SubClassOf 'autosomal dominant disease' 'autosomal dominant hereditary sensory and autonomic neuropathy' SubClassOf 'hereditary sensory and autonomic neuropathy' http://www.ebi.ac.uk/efo/EFO_0700034 autosomal recessive hereditary sensory and autonomic neuropathy 'autosomal recessive hereditary sensory and autonomic neuropathy' SubClassOf 'cranial malformation' http://www.ebi.ac.uk/efo/EFO_0700031 autosomal dominant hereditary axonal motor and sensory neuropathy 'autosomal dominant hereditary axonal motor and sensory neuropathy' SubClassOf 'axonal hereditary motor and sensory neuropathy' http://www.ebi.ac.uk/efo/EFO_0700032 autosomal recessive hereditary demyelinating motor and sensory neuropathy 'autosomal recessive hereditary demyelinating motor and sensory neuropathy' SubClassOf 'autosomal recessive disease' 'autosomal recessive hereditary demyelinating motor and sensory neuropathy' SubClassOf 'demyelinating hereditary motor and sensory neuropathy' http://www.ebi.ac.uk/efo/EFO_0700037 benign familial mesial temporal lobe epilepsy 'benign familial mesial temporal lobe epilepsy' SubClassOf 'familial partial epilepsy' http://www.ebi.ac.uk/efo/EFO_0700038 autosomal thrombocytopenia with normal platelets 'autosomal thrombocytopenia with normal platelets' SubClassOf 'hereditary thrombocytopenia with normal platelets' http://www.ebi.ac.uk/efo/EFO_0700035 lateral facial cleft 'lateral facial cleft' SubClassOf 'facial cleft' http://www.ebi.ac.uk/efo/EFO_0700036 familial isolated dilated cardiomyopathy 'familial isolated dilated cardiomyopathy' SubClassOf 'familial dilated cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0700039 congenital myopathy with cores 'congenital myopathy with cores' SubClassOf 'congenital myopathy' http://www.ebi.ac.uk/efo/EFO_0700051 autosomal dominant proximal spinal muscular atrophy 'autosomal dominant proximal spinal muscular atrophy' SubClassOf 'proximal spinal muscular atrophy' 'autosomal dominant proximal spinal muscular atrophy' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_0700052 semilobar holoprosencephaly 'semilobar holoprosencephaly' SubClassOf 'midline cerebral malformation' http://www.ebi.ac.uk/efo/EFO_0700050 chronic acquired demyelinating polyneuropathy 'chronic acquired demyelinating polyneuropathy' SubClassOf 'cranial malformation' http://www.ebi.ac.uk/efo/EFO_0700044 ARX-related epileptic encephalopathy 'ARX-related epileptic encephalopathy' SubClassOf 'digestive tract malformation' http://www.ebi.ac.uk/efo/EFO_0700045 cerebral malformation 'cerebral malformation' SubClassOf 'central nervous system malformation' http://www.ebi.ac.uk/efo/EFO_0700042 primary immunodeficiency due to a defect in adaptive immunity 'primary immunodeficiency due to a defect in adaptive immunity' SubClassOf 'hereditary cardiac anomaly' 'primary immunodeficiency due to a defect in adaptive immunity' SubClassOf 'vascular anomaly' http://www.ebi.ac.uk/efo/EFO_0700043 cerebellar malformation 'cerebellar malformation' SubClassOf 'posterior fossa malformation' http://www.ebi.ac.uk/efo/EFO_0700048 qualitative or quantitative defects of calpain 'qualitative or quantitative defects of calpain' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://www.ebi.ac.uk/efo/EFO_0700049 qualitative or quantitative defects of myotubularin 'qualitative or quantitative defects of myotubularin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://www.ebi.ac.uk/efo/EFO_0700046 congenital myotonia 'congenital myotonia' SubClassOf 'myotonic syndrome' http://www.ebi.ac.uk/efo/EFO_0700047 qualitative or quantitative defects of merosin 'qualitative or quantitative defects of merosin' SubClassOf 'cerebral malformation' http://www.ebi.ac.uk/efo/EFO_0700062 hereditary thrombocytopenia with normal platelets 'hereditary thrombocytopenia with normal platelets' SubClassOf 'blood disease' http://www.ebi.ac.uk/efo/EFO_0700063 midline cerebral malformation 'midline cerebral malformation' SubClassOf 'cerebral malformation' http://www.ebi.ac.uk/efo/EFO_0700060 Duchenne and Becker muscular dystrophy 'Duchenne and Becker muscular dystrophy' SubClassOf 'familial dilated cardiomyopathy' 'Duchenne and Becker muscular dystrophy' SubClassOf 'progressive muscular dystrophy' http://www.ebi.ac.uk/efo/EFO_0700061 hypomyelination neuropathy-arthrogryposis syndrome 'hypomyelination neuropathy-arthrogryposis syndrome' SubClassOf 'arthrogryposis multiplex congenita' http://www.ebi.ac.uk/efo/EFO_0700055 autosomal recessive lymphoproliferative disease 'autosomal recessive lymphoproliferative disease' SubClassOf 'lymphoproliferative syndrome' http://www.ebi.ac.uk/efo/EFO_0700056 progressive cerebello-cerebral atrophy 'progressive cerebello-cerebral atrophy' SubClassOf 'disorder of development or morphogenesis' http://www.ebi.ac.uk/efo/EFO_0700053 primary congenital hypothyroidism 'primary congenital hypothyroidism' SubClassOf 'permanent congenital hypothyroidism' http://www.ebi.ac.uk/efo/EFO_0700054 isolated Klippel-Feil syndrome 'isolated Klippel-Feil syndrome' SubClassOf 'Klippel-Feil syndrome' http://www.ebi.ac.uk/efo/EFO_0700059 neuronal tumor 'neuronal tumor' SubClassOf 'neuroepithelial neoplasm' http://www.ebi.ac.uk/efo/EFO_0700057 autosomal dominant secondary polycythemia 'autosomal dominant secondary polycythemia' SubClassOf 'congenital secondary polycythemia' 'autosomal dominant secondary polycythemia' SubClassOf 'autosomal dominant disease' 'autosomal dominant secondary polycythemia' SubClassOf 'familial polycythemia' http://www.ebi.ac.uk/efo/EFO_0700058 oligoastrocytic tumor 'oligoastrocytic tumor' SubClassOf 'Malignant Mixed Neoplasm' 'oligoastrocytic tumor' SubClassOf 'malignant glioma' 'oligoastrocytic tumor' SubClassOf 'mixed glioma' http://www.ebi.ac.uk/efo/EFO_0700070 split hand or/and split foot malformation 'split hand or/and split foot malformation' SubClassOf 'dysostosis' http://www.ebi.ac.uk/efo/EFO_0700073 pure or complex autosomal recessive spastic paraplegia 'pure or complex autosomal recessive spastic paraplegia' SubClassOf 'pure or complex hereditary spastic paraplegia' http://www.ebi.ac.uk/efo/EFO_0700074 deafness-onychodystrophy syndrome 'deafness-onychodystrophy syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://www.ebi.ac.uk/efo/EFO_0700071 familial infantile gigantism 'familial infantile gigantism' SubClassOf 'intestinal disease' http://www.ebi.ac.uk/efo/EFO_0700072 sodium channelopathy-related small fiber neuropathy 'sodium channelopathy-related small fiber neuropathy' SubClassOf 'autosomal dominant disease' 'sodium channelopathy-related small fiber neuropathy' SubClassOf 'hereditary peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0700066 sickle cell disease and related diseases 'sickle cell disease and related diseases' SubClassOf 'anemia' 'sickle cell disease and related diseases' SubClassOf 'inherited hemoglobinopathy' http://www.ebi.ac.uk/efo/EFO_0700067 non-syndromic male infertility due to sperm motility disorder 'non-syndromic male infertility due to sperm motility disorder' SubClassOf 'male infertility' http://www.ebi.ac.uk/efo/EFO_0700064 hereditary cardiac anomaly 'hereditary cardiac anomaly' SubClassOf 'disorder of development or morphogenesis' http://www.ebi.ac.uk/efo/EFO_0700065 hereditary ATTR amyloidosis 'hereditary ATTR amyloidosis' SubClassOf 'hereditary amyloidosis' http://www.ebi.ac.uk/efo/EFO_0700068 septopreoptic holoprosencephaly 'septopreoptic holoprosencephaly' SubClassOf 'midline cerebral malformation' http://www.ebi.ac.uk/efo/EFO_0700069 inherited prion disease 'inherited prion disease' SubClassOf 'human prion disease' 'inherited prion disease' SubClassOf 'prion disease' 'inherited prion disease' SubClassOf 'inherited neurodegenerative disorder' http://www.ebi.ac.uk/efo/EFO_0700080 hereditary intestinal polyposis 'hereditary intestinal polyposis' SubClassOf 'polyposis' 'hereditary intestinal polyposis' SubClassOf 'intestinal disease' http://www.ebi.ac.uk/efo/EFO_0700081 primary short bowel syndrome 'primary short bowel syndrome' SubClassOf 'short bowel syndrome' http://www.ebi.ac.uk/efo/EFO_0700084 congenital muscular dystrophy with cerebellar involvement 'congenital muscular dystrophy with cerebellar involvement' SubClassOf 'muscular dystrophy-dystroglycanopathy' http://www.ebi.ac.uk/efo/EFO_0700085 congenital muscular dystrophy without intellectual disability 'congenital muscular dystrophy without intellectual disability' SubClassOf 'muscular dystrophy-dystroglycanopathy' http://www.ebi.ac.uk/efo/EFO_0700082 homozygous 2p21 microdeletion syndrome 'homozygous 2p21 microdeletion syndrome' SubClassOf '2p21 microdeletion syndrome' http://www.ebi.ac.uk/efo/EFO_0700083 fetal anticonvulsant syndrome 'fetal anticonvulsant syndrome' SubClassOf 'toxic or drug-related embryofetopathy' http://www.ebi.ac.uk/efo/EFO_0700077 isolated plagiocephaly 'isolated plagiocephaly' SubClassOf 'cranial malformation' http://www.ebi.ac.uk/efo/EFO_0700078 isolated brachycephaly 'isolated brachycephaly' SubClassOf 'cranial malformation' http://www.ebi.ac.uk/efo/EFO_0700075 microcephalic primordial dwarfism 'microcephalic primordial dwarfism' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0700076 isolated scaphocephaly 'isolated scaphocephaly' SubClassOf 'cranial malformation' http://www.ebi.ac.uk/efo/EFO_0700079 congenital myasthenic syndromes with glycosylation defect 'congenital myasthenic syndromes with glycosylation defect' SubClassOf 'midline cerebral malformation' http://www.ebi.ac.uk/efo/EFO_0700091 microcephalic primordial dwarfism-insulin resistance syndrome 'microcephalic primordial dwarfism-insulin resistance syndrome' SubClassOf 'inherited primary ovarian failure' http://www.ebi.ac.uk/efo/EFO_0700092 congenital nemaline myopathy 'congenital nemaline myopathy' SubClassOf 'congenital myopathy' http://www.ebi.ac.uk/efo/EFO_0700090 intellectual disability-expressive aphasia-facial dysmorphism syndrome 'intellectual disability-expressive aphasia-facial dysmorphism syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0700095 type 1 interferonopathy 'type 1 interferonopathy' SubClassOf 'autoinflammatory syndrome' http://www.ebi.ac.uk/efo/EFO_0700096 COL4A1 or COL4A2-related cerebral small vessel disease 'COL4A1 or COL4A2-related cerebral small vessel disease' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_0700093 familial patent arterial duct 'familial patent arterial duct' SubClassOf 'vascular anomaly' 'familial patent arterial duct' SubClassOf 'hereditary cardiac anomaly' http://www.ebi.ac.uk/efo/EFO_0700094 axonal hereditary motor and sensory neuropathy 'axonal hereditary motor and sensory neuropathy' SubClassOf 'Charcot-Marie-Tooth disease' 'axonal hereditary motor and sensory neuropathy' SubClassOf 'hereditary motor and sensory neuropathy' http://www.ebi.ac.uk/efo/EFO_0700088 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' http://www.ebi.ac.uk/efo/EFO_0700089 X-linked distal hereditary motor neuropathy 'X-linked distal hereditary motor neuropathy' SubClassOf 'X-linked disease' 'X-linked distal hereditary motor neuropathy' SubClassOf 'distal hereditary motor neuropathy' http://www.ebi.ac.uk/efo/EFO_0700086 primary qualitative or quantitative defects of alpha-dystroglycan 'primary qualitative or quantitative defects of alpha-dystroglycan' SubClassOf 'qualitative or quantitative defects of alpha-dystroglycan' http://www.ebi.ac.uk/efo/EFO_0700087 hereditary isolated aplastic anemia 'hereditary isolated aplastic anemia' SubClassOf 'inherited aplastic anemia' http://www.ebi.ac.uk/efo/EFO_0700099 isolated anorectal malformation 'isolated anorectal malformation' SubClassOf 'digestive tract malformation' http://www.ebi.ac.uk/efo/EFO_0700097 HTRA1-related cerebral small vessel disease 'HTRA1-related cerebral small vessel disease' SubClassOf 'digestive tract malformation' http://www.ebi.ac.uk/efo/EFO_0700098 congenital cornea plana 'congenital cornea plana' SubClassOf 'cornea plana' http://www.ebi.ac.uk/efo/EFO_0700100 vascular anomaly 'vascular anomaly' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_0700103 trichorhinophalangeal syndrome type I or III 'trichorhinophalangeal syndrome type I or III' SubClassOf 'trichorhinophalangeal syndrome' 'trichorhinophalangeal syndrome type I or III' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_0700104 inborn disorder of gamma-aminobutyric acid metabolism 'inborn disorder of gamma-aminobutyric acid metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'inborn disorder of gamma-aminobutyric acid metabolism' SubClassOf 'amino acid metabolism disease' 'inborn disorder of gamma-aminobutyric acid metabolism' SubClassOf 'inborn disorder of biogenic amine metabolism and transport' http://www.ebi.ac.uk/efo/EFO_0700101 intractable diarrhea of infancy 'intractable diarrhea of infancy' SubClassOf 'intestinal disease' http://www.ebi.ac.uk/efo/EFO_0700102 familial isolated restrictive cardiomyopathy 'familial isolated restrictive cardiomyopathy' SubClassOf 'familial restrictive cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0700107 syndromic lymphedema 'syndromic lymphedema' SubClassOf 'syndromic disease' 'syndromic lymphedema' SubClassOf 'lymphedema' http://www.ebi.ac.uk/efo/EFO_0700108 non-infectious posterior uveitis 'non-infectious posterior uveitis' SubClassOf 'choroiditis' http://www.ebi.ac.uk/efo/EFO_0700105 myoclonic epilepsy of infancy 'myoclonic epilepsy of infancy' SubClassOf 'infantile-onset epilepsy' http://www.ebi.ac.uk/efo/EFO_0700106 hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome 'hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' http://www.ebi.ac.uk/efo/EFO_0700109 primary lipodystrophy 'primary lipodystrophy' SubClassOf 'subcutaneous tissue disorder' http://www.ebi.ac.uk/efo/EFO_0700110 sulfation-related bone disorder 'sulfation-related bone disorder' SubClassOf 'sulfur metabolism disease' 'sulfation-related bone disorder' SubClassOf 'inborn errors of metabolism' 'sulfation-related bone disorder' SubClassOf 'skeletal dysplasia' http://www.ebi.ac.uk/efo/EFO_0700111 multiple metaphyseal dysplasia 'multiple metaphyseal dysplasia' SubClassOf 'skeletal dysplasia' http://www.ebi.ac.uk/efo/EFO_0700114 chronic hepatic porphyria 'chronic hepatic porphyria' SubClassOf 'hepatic porphyria' http://www.ebi.ac.uk/efo/EFO_0700115 cranial malformation 'cranial malformation' SubClassOf 'developmental defect of the eye' http://www.ebi.ac.uk/efo/EFO_0700112 lethal chondrodysplasia 'lethal chondrodysplasia' SubClassOf 'cranial malformation' http://www.ebi.ac.uk/efo/EFO_0700113 midline interhemispheric variant of holoprosencephaly 'midline interhemispheric variant of holoprosencephaly' SubClassOf 'midline cerebral malformation' http://www.ebi.ac.uk/efo/EFO_0700118 developmental defect of the eye 'developmental defect of the eye' SubClassOf 'developmental defect during embryogenesis' 'developmental defect of the eye' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0700119 anophthalmia-microphthalmia syndrome 'anophthalmia-microphthalmia syndrome' SubClassOf 'developmental defect of the eye' http://www.ebi.ac.uk/efo/EFO_0700116 digestive tract malformation 'digestive tract malformation' SubClassOf 'developmental defect during embryogenesis' http://www.ebi.ac.uk/efo/EFO_0700117 posterior fossa malformation 'posterior fossa malformation' SubClassOf 'developmental defect of the eye' http://www.ebi.ac.uk/efo/EFO_0700121 epicanthal fold 'epicanthal fold' SubClassOf 'Rare palpebral disease' http://www.ebi.ac.uk/efo/EFO_0700122 secondary dysgenetic glaucoma 'secondary dysgenetic glaucoma' SubClassOf 'hereditary glaucoma' http://www.ebi.ac.uk/efo/EFO_0700120 syndromic aniridia 'syndromic aniridia' SubClassOf 'developmental defect of the eye' http://www.ebi.ac.uk/efo/EFO_0700125 atrioventricular valve anomaly 'atrioventricular valve anomaly' SubClassOf 'heart valve disease' 'atrioventricular valve anomaly' SubClassOf 'congenital heart malformation' http://www.ebi.ac.uk/efo/EFO_0700126 alpha-crystallinopathy 'alpha-crystallinopathy' SubClassOf 'congenital nervous system disorder' 'alpha-crystallinopathy' SubClassOf 'myofibrillar myopathy' 'alpha-crystallinopathy' SubClassOf 'qualitative or quantitative defects of alphaB-cristallin' http://www.ebi.ac.uk/efo/EFO_0700123 syndromic retinitis pigmentosa 'syndromic retinitis pigmentosa' SubClassOf 'syndromic disease' 'syndromic retinitis pigmentosa' SubClassOf 'retinitis pigmentosa' http://www.ebi.ac.uk/efo/EFO_0700124 aortic malformation 'aortic malformation' SubClassOf 'vascular anomaly' http://www.ebi.ac.uk/efo/EFO_0700129 coralliform cataract 'coralliform cataract' SubClassOf 'developmental defect of the eye' http://www.ebi.ac.uk/efo/EFO_0700127 presynaptic congenital myasthenic syndrome 'presynaptic congenital myasthenic syndrome' SubClassOf 'congenital myasthenic syndrome' http://www.ebi.ac.uk/efo/EFO_0700128 synaptic congenital myasthenic syndrome 'synaptic congenital myasthenic syndrome' SubClassOf 'congenital myasthenic syndrome' http://www.ebi.ac.uk/efo/EFO_0700132 hereditary angioedema with normal C1Inh 'hereditary angioedema with normal C1Inh' SubClassOf 'hereditary angioedema' http://www.ebi.ac.uk/efo/EFO_0700133 kyphoscoliotic Ehlers-Danlos syndrome 'kyphoscoliotic Ehlers-Danlos syndrome' SubClassOf 'Ehlers-Danlos syndrome' http://www.ebi.ac.uk/efo/EFO_0700130 ovarioleukodystrophy 'ovarioleukodystrophy' SubClassOf 'developmental defect of the eye' http://www.ebi.ac.uk/efo/EFO_0700131 primary parathyroid hyperplasia 'primary parathyroid hyperplasia' SubClassOf 'familial primary hyperparathyroidism' http://www.ebi.ac.uk/efo/EFO_0700136 apolipoprotein A-I deficiency 'apolipoprotein A-I deficiency' SubClassOf 'hypoalphalipoproteinemia' http://www.ebi.ac.uk/efo/EFO_0700137 primary bone dysplasia with increased bone density 'primary bone dysplasia with increased bone density' SubClassOf 'skeletal dysplasia' http://www.ebi.ac.uk/efo/EFO_0700134 resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta 'resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta' SubClassOf 'midline cerebral malformation' http://www.ebi.ac.uk/efo/EFO_0700135 PIK3CA-related overgrowth syndrome 'PIK3CA-related overgrowth syndrome' SubClassOf 'overgrowth syndrome' http://www.ebi.ac.uk/efo/EFO_0700138 primary bone dysplasia with multiple joint dislocations 'primary bone dysplasia with multiple joint dislocations' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0100530 myopathy caused by variation in CRPPA 'myopathy caused by variation in CRPPA' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'myopathy caused by variation in CRPPA' SubClassOf 'hereditary skeletal muscle disorder' 'myopathy caused by variation in CRPPA' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/HP_0000919 Abnormality of the costochondral junction 'Abnormality of the costochondral junction' SubClassOf 'Abnormal thorax morphology' http://purl.obolibrary.org/obo/MONDO_0100028 immune epilepsy 'immune epilepsy' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0100029 antibody mediated epilepsy 'antibody mediated epilepsy' SubClassOf 'immune epilepsy' http://www.ebi.ac.uk/efo/EFO_0022488 Smart-seq3 'Smart-seq3' SubClassOf 'Smart-like' http://www.ebi.ac.uk/efo/EFO_0022489 chitotriosidase deficiency 'chitotriosidase deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0023599 mesomelic dysplasia 'mesomelic dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/HP_0410139 Exercise induced anaphylaxis 'Exercise induced anaphylaxis' SubClassOf 'Abnormality of the immune system' http://purl.obolibrary.org/obo/MONDO_0005184 pancreatic ductal adenocarcinoma 'pancreatic ductal adenocarcinoma' SubClassOf 'pancreatic adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0019542 acute liver failure 'acute liver failure' SubClassOf 'bearer_of' some 'rare' 'acute liver failure' SubClassOf 'acute disease' 'acute liver failure' SubClassOf 'liver failure' http://purl.obolibrary.org/obo/MONDO_0001039 tonsillitis 'tonsillitis' SubClassOf 'disorder of pharynx' 'tonsillitis' SubClassOf 'upper respiratory tract disorder' 'tonsillitis' SubClassOf 'lymphoid system disorder' 'tonsillitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/OBA_2050352 trait in response to hypoglycemic agent 'trait in response to hypoglycemic agent' SubClassOf 'response to xenobiotic stimulus' http://purl.obolibrary.org/obo/OBA_2050351 breast density 'breast density' SubClassOf 'body weights and measures' http://purl.obolibrary.org/obo/OBA_2050353 age of onset of pancreatic ductal adenocarcinoma 'age of onset of pancreatic ductal adenocarcinoma' SubClassOf 'age of onset of cancer' http://purl.obolibrary.org/obo/OBA_2050082 serum ST2 amount 'serum ST2 amount' SubClassOf 'amount' http://purl.obolibrary.org/obo/OBA_2050073 serum ceruloplasmin amount 'serum ceruloplasmin amount' SubClassOf 'amount' http://purl.obolibrary.org/obo/MONDO_0021582 lentigo 'lentigo' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0800092 hereditary inflammatory or rheumatoid-like osteoarthropathy 'hereditary inflammatory or rheumatoid-like osteoarthropathy' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800093 dysostosis with brachydactyly without extraskeletal manifestations 'dysostosis with brachydactyly without extraskeletal manifestations' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800090 ectrodactyly with and without other manifestations 'ectrodactyly with and without other manifestations' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800091 overgrowth or tall stature syndrome with skeletal involvement 'overgrowth or tall stature syndrome with skeletal involvement' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800094 dysostosis with brachydactyly with extraskeletal manifestations 'dysostosis with brachydactyly with extraskeletal manifestations' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800095 syndrome with synostosis or other joint formation defect 'syndrome with synostosis or other joint formation defect' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800089 primary bone dysplasia with disorganized development of skeletal components 'primary bone dysplasia with disorganized development of skeletal components' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800087 type 11 collagen-related bone disorder 'type 11 collagen-related bone disorder' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800085 dysostosis with predominant craniofacial involvement 'dysostosis with predominant craniofacial involvement' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800075 dysostosis with predominant vertebral with and without costal involvement 'dysostosis with predominant vertebral with and without costal involvement' SubClassOf 'skeletal dysplasia' 'dysostosis with predominant vertebral with and without costal involvement' SubClassOf 'dysostosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0035682 fibrous dysplasia/McCune-Albright syndrome 'fibrous dysplasia/McCune-Albright syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0021034 hereditary alopecia 'hereditary alopecia' EquivalentTo 'alopecia' and ('bearer_of' some 'inherited') 'hereditary alopecia' SubClassOf 'hereditary epidermal appendage anomaly' 'hereditary alopecia' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0016125 infectious, fungal or parasitic myopathy 'infectious, fungal or parasitic myopathy' SubClassOf 'infectious disease' 'infectious, fungal or parasitic myopathy' EquivalentTo 'myopathy' and 'infectious disease' 'infectious, fungal or parasitic myopathy' SubClassOf 'myopathy' 'infectious, fungal or parasitic myopathy' SubClassOf 'acquired skeletal muscle disease' http://purl.obolibrary.org/obo/MONDO_0016179 acquired amyloid peripheral neuropathy 'acquired amyloid peripheral neuropathy' SubClassOf 'acquired peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0016034 cleft lip with or without cleft palate 'cleft lip with or without cleft palate' SubClassOf 'disorder of facial skeleton' 'cleft lip with or without cleft palate' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0016744 primary melanocytic tumor of central nervous system 'primary melanocytic tumor of central nervous system' SubClassOf 'meningeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome 'inherited nervous system cancer-predisposing syndrome' SubClassOf 'disease has feature' some 'nervous system cancer' 'inherited nervous system cancer-predisposing syndrome' SubClassOf 'nervous system disease' 'inherited nervous system cancer-predisposing syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016678 maternal disease-related embryofetopathy 'maternal disease-related embryofetopathy' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0016708 embryonal tumor of neuroepithelial tissue 'embryonal tumor of neuroepithelial tissue' SubClassOf 'embryonal neoplasm' 'embryonal tumor of neuroepithelial tissue' SubClassOf 'neuroepithelial neoplasm' 'embryonal tumor of neuroepithelial tissue' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016721 pineal tumor of neuroepithelial tissue 'pineal tumor of neuroepithelial tissue' SubClassOf 'bearer_of' some 'rare' 'pineal tumor of neuroepithelial tissue' SubClassOf 'neuroepithelial neoplasm' 'pineal tumor of neuroepithelial tissue' SubClassOf 'pineal body neoplasm' http://purl.obolibrary.org/obo/MONDO_0016738 primary germ cell tumor of central nervous system 'primary germ cell tumor of central nervous system' SubClassOf 'nervous system neoplasm' 'primary germ cell tumor of central nervous system' SubClassOf 'extragonadal germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0016428 multiple sclerosis variant 'multiple sclerosis variant' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0016434 acquired dermis elastic tissue disorder 'acquired dermis elastic tissue disorder' EquivalentTo 'dermis elastic tissue disorder' and ('bearer_of' some 'acquired') 'acquired dermis elastic tissue disorder' SubClassOf 'dermis elastic tissue disorder' 'acquired dermis elastic tissue disorder' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0016493 variant of Guillain-Barre syndrome 'variant of Guillain-Barre syndrome' SubClassOf 'Guillain-Barre syndrome' http://purl.obolibrary.org/obo/MONDO_0016494 regional variant of Guillain-Barre syndrome 'regional variant of Guillain-Barre syndrome' SubClassOf 'variant of Guillain-Barre syndrome' http://purl.obolibrary.org/obo/MONDO_0100253 Roberts-SC phocomelia syndrome 'Roberts-SC phocomelia syndrome' SubClassOf 'syndromic disease' 'Roberts-SC phocomelia syndrome' SubClassOf 'non-syndromic limb reduction defect' 'Roberts-SC phocomelia syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0016375 acquired peripheral movement disorder 'acquired peripheral movement disorder' SubClassOf 'acquired peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0016230 simple vascular malformation 'simple vascular malformation' SubClassOf 'vascular anomaly' http://purl.obolibrary.org/obo/MONDO_0036192 EN1-related dorsoventral syndrome 'EN1-related dorsoventral syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0957024 hereditary 46,XX disorder of sex development 'hereditary 46,XX disorder of sex development' EquivalentTo '46,XX disorder of sex development' and ('bearer_of' some 'inherited') 'hereditary 46,XX disorder of sex development' SubClassOf '46,XX disorder of sex development' 'hereditary 46,XX disorder of sex development' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0957025 hereditary 46,XY disorder of sex development 'hereditary 46,XY disorder of sex development' SubClassOf 'genetic disorder' 'hereditary 46,XY disorder of sex development' EquivalentTo '46,XY disorder of sex development' and ('bearer_of' some 'inherited') 'hereditary 46,XY disorder of sex development' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0957001 hereditary mixed dermis disorder 'hereditary mixed dermis disorder' SubClassOf 'mixed dermis disorder' 'hereditary mixed dermis disorder' EquivalentTo 'mixed dermis disorder' and ('bearer_of' some 'inherited') 'hereditary mixed dermis disorder' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0957003 hereditary neuro-ophthalmological disease 'hereditary neuro-ophthalmological disease' SubClassOf 'genetic disorder' 'hereditary neuro-ophthalmological disease' SubClassOf 'neuro-ophthalmological disease' 'hereditary neuro-ophthalmological disease' EquivalentTo 'neuro-ophthalmological disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0957008 hereditary cerebral malformation 'hereditary cerebral malformation' SubClassOf 'cerebral malformation' 'hereditary cerebral malformation' SubClassOf 'genetic disorder' 'hereditary cerebral malformation' EquivalentTo 'cerebral malformation' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0957009 hereditary posterior fossa malformation 'hereditary posterior fossa malformation' SubClassOf 'posterior fossa malformation' 'hereditary posterior fossa malformation' EquivalentTo 'posterior fossa malformation' and ('bearer_of' some 'inherited') 'hereditary posterior fossa malformation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0022410 retinal ciliopathy 'retinal ciliopathy' SubClassOf 'ciliopathy' 'retinal ciliopathy' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0022409 nephropathy-associated ciliopathy 'nephropathy-associated ciliopathy' SubClassOf 'inherited kidney disorder' 'nephropathy-associated ciliopathy' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_0017212 paraneoplastic uveitis 'paraneoplastic uveitis' EquivalentTo 'non-infectious posterior uveitis' and 'paraneoplastic syndrome' 'paraneoplastic uveitis' SubClassOf 'paraneoplastic syndrome' 'paraneoplastic uveitis' SubClassOf 'non-infectious posterior uveitis' http://purl.obolibrary.org/obo/MONDO_0017104 central nervous system cystic malformation 'central nervous system cystic malformation' SubClassOf 'non-syndromic central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0017114 global cerebellar malformation 'global cerebellar malformation' SubClassOf 'cerebellar malformation' http://purl.obolibrary.org/obo/MONDO_0017027 primary interstitial lung disease specific to adulthood 'primary interstitial lung disease specific to adulthood' SubClassOf 'interstitial lung disease specific to adulthood' http://purl.obolibrary.org/obo/MONDO_0017040 exposure-related interstitial lung disease 'exposure-related interstitial lung disease' SubClassOf 'secondary interstitial lung disease in childhood and adulthood' http://purl.obolibrary.org/obo/MONDO_0017034 secondary interstitial lung disease in childhood and adulthood 'secondary interstitial lung disease in childhood and adulthood' SubClassOf 'interstitial lung disease in childhood and adulthood' http://purl.obolibrary.org/obo/MONDO_0017030 interstitial lung disease in childhood and adulthood 'interstitial lung disease in childhood and adulthood' SubClassOf 'interstitial lung disease' http://purl.obolibrary.org/obo/MONDO_0017031 primary interstitial lung disease in childhood and adulthood 'primary interstitial lung disease in childhood and adulthood' SubClassOf 'interstitial lung disease in childhood and adulthood' http://purl.obolibrary.org/obo/MONDO_0013048 hereditary spastic paraplegia 50 'hereditary spastic paraplegia 50' SubClassOf 'AP4-related intellectual disability and spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0017955 granulomatous autoinflammatory syndrome 'granulomatous autoinflammatory syndrome' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0017954 pyogenic autoinflammatory syndrome 'pyogenic autoinflammatory syndrome' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0003291 leiomyoma cutis 'leiomyoma cutis' SubClassOf 'benign neoplasm of skin' 'leiomyoma cutis' SubClassOf 'leiomyoma' 'leiomyoma cutis' SubClassOf 'dermis tumor' http://purl.obolibrary.org/obo/MONDO_0037807 glycerol metabolism disease 'glycerol metabolism disease' SubClassOf 'carbohydrate metabolism disease' http://purl.obolibrary.org/obo/MONDO_0013551 hereditary spastic paraplegia 47 'hereditary spastic paraplegia 47' SubClassOf 'AP4-related intellectual disability and spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013552 hereditary spastic paraplegia 52 'hereditary spastic paraplegia 52' SubClassOf 'AP4-related intellectual disability and spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013401 hereditary spastic paraplegia 51 'hereditary spastic paraplegia 51' SubClassOf 'AP4-related intellectual disability and spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0008596 trichorhinophalangeal syndrome type I 'trichorhinophalangeal syndrome type I' SubClassOf 'trichorhinophalangeal syndrome type I or III' http://purl.obolibrary.org/obo/MONDO_0018720 common cystic lymphatic malformation 'common cystic lymphatic malformation' SubClassOf 'lymphangioma' http://purl.obolibrary.org/obo/MONDO_0018731 lethal multiple congenital anomalies/dysmorphic syndrome 'lethal multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0018745 superficial pemphigus 'superficial pemphigus' SubClassOf 'autoimmune bullous skin disease' http://purl.obolibrary.org/obo/MONDO_0004111 refractory hematologic cancer 'refractory hematologic cancer' SubClassOf 'hematopoietic and lymphoid cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0018779 hypercontractile muscle stiffness syndrome 'hypercontractile muscle stiffness syndrome' SubClassOf 'alpha-crystallinopathy' http://purl.obolibrary.org/obo/MONDO_0018771 congenital anomaly of ventricular septum 'congenital anomaly of ventricular septum' SubClassOf 'bearer_of' some 'congenital' 'congenital anomaly of ventricular septum' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0018529 qualitative or quantitative defects of Torsin-1A-interacting protein 1 'qualitative or quantitative defects of Torsin-1A-interacting protein 1' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0018538 inherited digestive cancer-predisposing syndrome 'inherited digestive cancer-predisposing syndrome' SubClassOf 'disease has feature' some 'digestive system cancer' 'inherited digestive cancer-predisposing syndrome' SubClassOf 'hereditary neoplastic syndrome' 'inherited digestive cancer-predisposing syndrome' EquivalentTo 'hereditary neoplastic syndrome' and ('disease has feature' some 'digestive system cancer') http://purl.obolibrary.org/obo/MONDO_0018532 adenocarcinoma of liver and intrahepatic biliary tract 'adenocarcinoma of liver and intrahepatic biliary tract' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' 'adenocarcinoma of liver and intrahepatic biliary tract' EquivalentTo 'liver and intrahepatic bile duct neoplasm' and 'adenocarcinoma' 'adenocarcinoma of liver and intrahepatic biliary tract' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0018550 spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder 'spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' SubClassOf 'autosomal recessive complex spastic paraplegia' 'spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' SubClassOf 'hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0018562 hereditary otorhinolaryngological malformation 'hereditary otorhinolaryngological malformation' SubClassOf 'hereditary otorhinolaryngologic disease' 'hereditary otorhinolaryngological malformation' SubClassOf 'hereditary head and neck malformation' http://purl.obolibrary.org/obo/MONDO_0018580 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome' SubClassOf 'syndromic intellectual disability' 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018579 disorder of ketone body transport 'disorder of ketone body transport' SubClassOf 'disorder of fatty acid and ketone body metabolism' http://purl.obolibrary.org/obo/MONDO_0018496 ARX-related encephalopathy-brain malformation spectrum 'ARX-related encephalopathy-brain malformation spectrum' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018191 tumor of testis and paratestis 'tumor of testis and paratestis' SubClassOf 'bearer_of' some 'rare' 'tumor of testis and paratestis' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0019271 acrokeratoderma 'acrokeratoderma' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0019277 epidermal appendage anomaly 'epidermal appendage anomaly' SubClassOf 'skin appendage disorder' 'epidermal appendage anomaly' SubClassOf 'bearer_of' some 'rare' 'epidermal appendage anomaly' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0019286 sebaceous gland anomaly 'sebaceous gland anomaly' SubClassOf 'epidermal appendage anomaly' 'sebaceous gland anomaly' SubClassOf 'sebaceous gland disease' http://purl.obolibrary.org/obo/MONDO_0020293 ascending aorta anomaly 'ascending aorta anomaly' SubClassOf 'congenital anomaly of the great arteries' http://purl.obolibrary.org/obo/MONDO_0020294 atrial defect and interatrial communication 'atrial defect and interatrial communication' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0020285 transposition of the great arteries and conotruncal cardiac anomaly 'transposition of the great arteries and conotruncal cardiac anomaly' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0020284 heart position anomaly 'heart position anomaly' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0020131 malformation of the cerebellar hemispheres 'malformation of the cerebellar hemispheres' SubClassOf 'cerebellar malformation' http://purl.obolibrary.org/obo/MONDO_0020130 malformation of the cerebellar vermis 'malformation of the cerebellar vermis' SubClassOf 'cerebellar malformation' http://purl.obolibrary.org/obo/MONDO_0020125 acquired neuromuscular junction disease 'acquired neuromuscular junction disease' SubClassOf 'neuromuscular junction disease' 'acquired neuromuscular junction disease' SubClassOf 'bearer_of' some 'acquired' 'acquired neuromuscular junction disease' EquivalentTo 'neuromuscular junction disease' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0020039 46,XX disorder of sex development induced by androgens excess '46,XX disorder of sex development induced by androgens excess' SubClassOf '46,XX disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0020069 chronic encephalitis 'chronic encephalitis' SubClassOf 'infectious encephalitis' http://purl.obolibrary.org/obo/MONDO_0020081 macrophage or histiocytic tumor 'macrophage or histiocytic tumor' SubClassOf 'Histiocytic and Dendritic Cell Neoplasm' http://purl.obolibrary.org/obo/MONDO_0010542 dilated cardiomyopathy 3B 'dilated cardiomyopathy 3B' SubClassOf 'familial isolated dilated cardiomyopathy' 'dilated cardiomyopathy 3B' SubClassOf 'qualitative or quantitative defects of dystrophin' http://purl.obolibrary.org/obo/MONDO_0019822 arterial duct anomaly 'arterial duct anomaly' SubClassOf 'congenital anomaly of the great arteries' http://purl.obolibrary.org/obo/MONDO_0019844 pituitary hormone deficiency secondary to storage disease 'pituitary hormone deficiency secondary to storage disease' SubClassOf 'pituitary deficiency' http://purl.obolibrary.org/obo/MONDO_0044655 c12orf65-related combined oxidative phosphorylation defect 'c12orf65-related combined oxidative phosphorylation defect' SubClassOf 'bearer_of' some 'rare' 'c12orf65-related combined oxidative phosphorylation defect' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0020537 occupational allergic alveolitis 'occupational allergic alveolitis' SubClassOf 'hypersensitivity pneumonitis' 'occupational allergic alveolitis' SubClassOf 'occupational lung disease' http://purl.obolibrary.org/obo/MONDO_0019386 progressive rubella panencephalitis 'progressive rubella panencephalitis' SubClassOf 'chronic encephalitis' 'progressive rubella panencephalitis' SubClassOf 'bearer_of' some 'acquired' 'progressive rubella panencephalitis' SubClassOf 'rubella encephalitis' 'progressive rubella panencephalitis' EquivalentTo 'chronic encephalitis' and ('disease arises from feature' some 'rubella') http://purl.obolibrary.org/obo/MONDO_0015683 primary malignant peritoneal tumor 'primary malignant peritoneal tumor' SubClassOf 'primary peritoneal tumor' http://purl.obolibrary.org/obo/MONDO_0015682 primary peritoneal tumor 'primary peritoneal tumor' SubClassOf 'neoplasm' 'primary peritoneal tumor' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation 'non-syndromic urogenital tract malformation' SubClassOf 'urogenital tract malformation' 'non-syndromic urogenital tract malformation' EquivalentTo 'urogenital tract malformation' and ('bearer_of' some 'has an isolated presentation') 'non-syndromic urogenital tract malformation' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0015412 median facial cleft 'median facial cleft' SubClassOf 'facial cleft' http://purl.obolibrary.org/obo/MONDO_0015489 predominantly medium-vessel vasculitis 'predominantly medium-vessel vasculitis' SubClassOf 'vasculitis' http://purl.obolibrary.org/obo/MONDO_0015488 predominantly large-vessel vasculitis 'predominantly large-vessel vasculitis' SubClassOf 'vasculitis' http://purl.obolibrary.org/obo/MONDO_0015490 predominantly small-vessel vasculitis 'predominantly small-vessel vasculitis' SubClassOf 'vasculitis' http://purl.obolibrary.org/obo/MONDO_0015503 nose and cavum anomaly 'nose and cavum anomaly' SubClassOf 'developmental defect during embryogenesis' 'nose and cavum anomaly' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0015323 teratogenic Pierre Robin syndrome 'teratogenic Pierre Robin syndrome' SubClassOf 'disorder of development or morphogenesis' 'teratogenic Pierre Robin syndrome' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0015222 syndromic respiratory or mediastinal malformation 'syndromic respiratory or mediastinal malformation' SubClassOf 'syndromic disease' 'syndromic respiratory or mediastinal malformation' SubClassOf 'bearer_of' some 'rare' 'syndromic respiratory or mediastinal malformation' EquivalentTo 'respiratory or mediastinal malformation' and ('bearer_of' some 'has a syndromic presentation') 'syndromic respiratory or mediastinal malformation' SubClassOf 'respiratory or mediastinal malformation' http://purl.obolibrary.org/obo/MONDO_0015130 acquired chronic primary adrenal insufficiency 'acquired chronic primary adrenal insufficiency' SubClassOf 'chronic primary adrenal insufficiency' 'acquired chronic primary adrenal insufficiency' SubClassOf 'bearer_of' some 'acquired' 'acquired chronic primary adrenal insufficiency' EquivalentTo 'chronic primary adrenal insufficiency' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0015133 quantitative and/or qualitative congenital phagocyte defect 'quantitative and/or qualitative congenital phagocyte defect' SubClassOf 'primary immunodeficiency due to a genetic defect in innate immunity' 'quantitative and/or qualitative congenital phagocyte defect' SubClassOf 'bearer_of' some 'congenital' 'quantitative and/or qualitative congenital phagocyte defect' SubClassOf 'phagocytic cell dysfunction' http://purl.obolibrary.org/obo/MONDO_0015141 disorder of medulla oblongata 'disorder of medulla oblongata' SubClassOf 'brain disease' 'disorder of medulla oblongata' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015933 non-syndromic urogenital tract malformation of male 'non-syndromic urogenital tract malformation of male' SubClassOf 'male reproductive system disease' 'non-syndromic urogenital tract malformation of male' SubClassOf 'non-syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0015932 non-syndromic urogenital tract malformation of female 'non-syndromic urogenital tract malformation of female' SubClassOf 'female reproductive system disease' 'non-syndromic urogenital tract malformation of female' SubClassOf 'non-syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0015817 aggressive primary cutaneous T-cell lymphoma 'aggressive primary cutaneous T-cell lymphoma' SubClassOf 'primary cutaneous T-cell lymphoma' http://purl.obolibrary.org/obo/MONDO_0015818 aggressive primary cutaneous B-cell lymphoma 'aggressive primary cutaneous B-cell lymphoma' SubClassOf 'aggressive B-cell non-Hodgkin lymphoma' 'aggressive primary cutaneous B-cell lymphoma' SubClassOf 'primary cutaneous B-cell lymphoma' 'aggressive primary cutaneous B-cell lymphoma' SubClassOf 'immune system cancer' http://purl.obolibrary.org/obo/MONDO_0015828 uterovaginal malformation 'uterovaginal malformation' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0015829 non-syndromic uterovaginal malformation 'non-syndromic uterovaginal malformation' EquivalentTo 'uterovaginal malformation' and ('bearer_of' some 'has an isolated presentation') 'non-syndromic uterovaginal malformation' SubClassOf 'non-syndromic urogenital tract malformation of female' 'non-syndromic uterovaginal malformation' SubClassOf 'uterovaginal malformation' http://purl.obolibrary.org/obo/MONDO_0015846 syndromic uterovaginal malformation 'syndromic uterovaginal malformation' EquivalentTo 'uterovaginal malformation' and ('bearer_of' some 'has a syndromic presentation') 'syndromic uterovaginal malformation' SubClassOf 'uterovaginal malformation' 'syndromic uterovaginal malformation' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015853 deficient breast volume or number 'deficient breast volume or number' SubClassOf 'female reproductive system disease' 'deficient breast volume or number' SubClassOf 'breast disease' http://purl.obolibrary.org/obo/MONDO_0015852 excess breast volume or number 'excess breast volume or number' SubClassOf 'breast disease' 'excess breast volume or number' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0015860 anomaly of puberty or/and menstrual cycle 'anomaly of puberty or/and menstrual cycle' SubClassOf 'female reproductive system disease'