651 96 9 http://www.ebi.ac.uk/efo/EFO_1000266 Gallbladder Small Cell Neuroendocrine Carcinoma 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'inherited neuroendocrine tumor' 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700225 http://www.ebi.ac.uk/efo/EFO_1000263 Gallbladder Adenoma 'Gallbladder Adenoma' SubClassOf 'inherited digestive tract tumor' 'Gallbladder Adenoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700225 http://purl.obolibrary.org/obo/MONDO_0008588 hereditary geniospasm 'hereditary geniospasm' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1000353 Malignant Jugulotympanic Paraganglioma 'Malignant Jugulotympanic Paraganglioma' SubClassOf 'vein disorder' 'Malignant Jugulotympanic Paraganglioma' SubClassOf 'vascular bone neoplasm' 'Malignant Jugulotympanic Paraganglioma' SubClassOf 'neurovascular disorder' http://www.ebi.ac.uk/efo/EFO_0002914 uterine sarcoma 'uterine sarcoma' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0002918 rhabdomyosarcoma 'rhabdomyosarcoma' SubClassOf 'skeletal muscle cancer' 'rhabdomyosarcoma' SubClassOf 'muscular tumor' 'rhabdomyosarcoma' SubClassOf 'muscle cancer' http://www.ebi.ac.uk/efo/EFO_1000396 Nevus of Ota 'Nevus of Ota' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1000395 Nevus of Ito 'Nevus of Ito' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0000318 cardiomyopathy 'cardiomyopathy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008425 omphalocele syndrome, Shprintzen-Goldberg type 'omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' http://www.ebi.ac.uk/efo/EFO_1000327 Low Grade Central Osteosarcoma 'Low Grade Central Osteosarcoma' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1000334 Lung Lymphangioleiomyomatosis 'Lung Lymphangioleiomyomatosis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1000330 Low Grade Vulvar Intraepithelial Neoplasia 'Low Grade Vulvar Intraepithelial Neoplasia' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008486 steatocystoma multiplex-natal teeth syndrome 'steatocystoma multiplex-natal teeth syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/HP_0100033 Tics 'Tics' SubClassOf 'Abnormality of movement' 'Tics' SubClassOf 'Abnormal central motor function' 'Tics' SubClassOf 'Behavioral abnormality' http://www.ebi.ac.uk/efo/EFO_0000650 whooping cough 'whooping cough' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0011909 Charcot-Marie-Tooth disease dominant intermediate D 'Charcot-Marie-Tooth disease dominant intermediate D' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease dominant intermediate D' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0011927 tufted angioma 'tufted angioma' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0000694 severe acute respiratory syndrome 'severe acute respiratory syndrome' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0000681 renal cell carcinoma 'renal cell carcinoma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008311 progeria-short stature-pigmented nevi syndrome 'progeria-short stature-pigmented nevi syndrome' SubClassOf 'progeroid syndrome' 'progeria-short stature-pigmented nevi syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011969 ALG8-congenital disorder of glycosylation 'ALG8-congenital disorder of glycosylation' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'ALG8-congenital disorder of glycosylation' SubClassOf 'inherited kidney disorder' 'ALG8-congenital disorder of glycosylation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011976 lipodystrophy-intellectual disability-deafness syndrome 'lipodystrophy-intellectual disability-deafness syndrome' SubClassOf 'progeroid syndrome' 'lipodystrophy-intellectual disability-deafness syndrome' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0011972 ovarian hyperstimulation syndrome 'ovarian hyperstimulation syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0011995 cataract - congenital heart disease - neural tube defect syndrome 'cataract - congenital heart disease - neural tube defect syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008387 ring dermoid of cornea 'ring dermoid of cornea' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1000129 Bladder Small Cell Neuroendocrine Carcinoma 'Bladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0000508 genetic disorder 'genetic disorder' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0000546 injury 'injury' SubClassOf 'disease' 'injury' SubClassOf 'disposition' http://purl.obolibrary.org/obo/MONDO_0008211 pseudoleprechaunism syndrome, Patterson type 'pseudoleprechaunism syndrome, Patterson type' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0023868 melanoma associated retinopathy 'melanoma associated retinopathy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008259 familial spontaneous pneumothorax 'familial spontaneous pneumothorax' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1000071 Adenoid Cystic Breast Carcinoma 'Adenoid Cystic Breast Carcinoma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0021257 glomus jugulare neoplasm 'glomus jugulare neoplasm' SubClassOf 'neoplasm of neck' 'glomus jugulare neoplasm' SubClassOf 'vein disorder' 'glomus jugulare neoplasm' SubClassOf 'blood vessel neoplasm' http://www.ebi.ac.uk/efo/EFO_0009266 refractory celiac disease 'refractory celiac disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008118 odontomatosis-aortae esophagus stenosis syndrome 'odontomatosis-aortae esophagus stenosis syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008120 spinocerebellar ataxia type 7 'spinocerebellar ataxia type 7' SubClassOf 'autosomal dominant cerebellar ataxia type II' 'spinocerebellar ataxia type 7' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008145 Ollier disease 'Ollier disease' SubClassOf 'overgrowth syndrome' 'Ollier disease' SubClassOf 'hereditary neoplastic syndrome' 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 'osteochondrosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0021142 acquired rippling muscle disease 'acquired rippling muscle disease' SubClassOf 'bearer_of' some 'acquired' 'acquired rippling muscle disease' SubClassOf 'material entity' 'acquired rippling muscle disease' SubClassOf 'acquired skeletal muscle disease' http://purl.obolibrary.org/obo/MONDO_0021140 congenital 'congenital' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0000737 well-differentiated sarcoma 'well-differentiated sarcoma' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0000762 hepatocellular adenoma 'hepatocellular adenoma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008029 Bethlem myopathy 'Bethlem myopathy' SubClassOf 'genetic disorder' 'Bethlem myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' http://purl.obolibrary.org/obo/MONDO_0011674 Charcot-Marie-Tooth disease dominant intermediate B 'Charcot-Marie-Tooth disease dominant intermediate B' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease dominant intermediate B' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG 'Charcot-Marie-Tooth Disease, axonal, type 2GG' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth Disease, axonal, type 2GG' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0008046 autosomal dominant myoglobinuria 'autosomal dominant myoglobinuria' SubClassOf 'muscular lipidosis' 'autosomal dominant myoglobinuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://purl.obolibrary.org/obo/MONDO_0008051 tubular aggregate myopathy 'tubular aggregate myopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021064 jugulotympanic paraganglioma 'jugulotympanic paraganglioma' SubClassOf 'neurovascular disorder' 'jugulotympanic paraganglioma' SubClassOf 'glomus jugulare neoplasm' 'jugulotympanic paraganglioma' SubClassOf 'vascular bone neoplasm' http://purl.obolibrary.org/obo/MONDO_0008094 familial multiple nevi flammei 'familial multiple nevi flammei' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0011411 Chudley-McCullough syndrome 'Chudley-McCullough syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0011476 MHC class I deficiency 'MHC class I deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'MHC class I deficiency' SubClassOf 'combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0018715 congenital hemangioma 'congenital hemangioma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016107 myotonic dystrophy 'myotonic dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016105 acquired skeletal muscle disease 'acquired skeletal muscle disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018778 intermediate Charcot-Marie-Tooth disease 'intermediate Charcot-Marie-Tooth disease' SubClassOf 'Charcot-Marie-Tooth disease' 'intermediate Charcot-Marie-Tooth disease' SubClassOf 'hereditary motor and sensory neuropathy' 'intermediate Charcot-Marie-Tooth disease' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0016112 inclusion myopathy 'inclusion myopathy' SubClassOf 'myopathy' 'inclusion myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 'inclusion myopathy' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0016122 periodic paralysis 'periodic paralysis' SubClassOf 'skeletal muscle disorder' 'periodic paralysis' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0016123 muscular tumor 'muscular tumor' SubClassOf 'skeletal muscle neoplasm' http://purl.obolibrary.org/obo/MONDO_0018791 Moyomoya angiopathy 'Moyomoya angiopathy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0004187 nodular fasciitis 'nodular fasciitis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0043765 presbycusis 'presbycusis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016175 cutis laxa 'cutis laxa' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'cutis laxa' SubClassOf 'developmental defect during embryogenesis' http://www.ebi.ac.uk/efo/EFO_0004799 cholelithiasis 'cholelithiasis' SubClassOf 'gallbladder disease' 'cholelithiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700225 http://purl.obolibrary.org/obo/MONDO_0018612 congenital hypothyroidism 'congenital hypothyroidism' SubClassOf 'material entity' http://www.orpha.net/ORDO/Orphanet_79293 Familial LCAT deficiency 'Familial LCAT deficiency' SubClassOf 'inherited kidney disorder' http://purl.obolibrary.org/obo/MONDO_0018648 Keratocystic odontogenic tumor 'Keratocystic odontogenic tumor' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018642 NIK deficiency 'NIK deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'NIK deficiency' SubClassOf 'non-SCID combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0016006 Cockayne syndrome 'Cockayne syndrome' SubClassOf 'DNA repair deficiency' 'Cockayne syndrome' SubClassOf 'inherited neurodegenerative disorder' 'Cockayne syndrome' SubClassOf 'syndromic disease' 'Cockayne syndrome' SubClassOf 'autosomal recessive disease' 'Cockayne syndrome' SubClassOf 'bearer_of' some 'rare' 'Cockayne syndrome' SubClassOf 'DNA repair deficiency' 'Cockayne syndrome' SubClassOf 'progeroid syndrome' 'Cockayne syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'Cockayne syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0018661 Zika virus infectious disease 'Zika virus infectious disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome 'Cornelia de Lange syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Cornelia de Lange syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016040 harlequin syndrome 'harlequin syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016052 atypical autism 'atypical autism' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease 'Cowden disease' SubClassOf 'intestinal polyposis syndrome' 'Cowden disease' SubClassOf 'PTEN hamartoma tumor syndrome' 'Cowden disease' SubClassOf 'genetic skin disorder' http://purl.obolibrary.org/obo/MONDO_0016075 filariasis 'filariasis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency 'hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'inherited kidney disorder' 'hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'vitamin B12- and folate-independent constitutional megaloblastic anemia' http://purl.obolibrary.org/obo/MONDO_0018506 mesenchymal tumor of small intestine 'mesenchymal tumor of small intestine' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018513 squamous cell carcinoma of colon 'squamous cell carcinoma of colon' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018515 squamous cell carcinoma of rectum 'squamous cell carcinoma of rectum' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018511 epithelial tumor of the appendix 'epithelial tumor of the appendix' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1000865 choledocholithiasis 'choledocholithiasis' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0018521 squamous cell carcinoma of pancreas 'squamous cell carcinoma of pancreas' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018541 familial hypoaldosteronism 'familial hypoaldosteronism' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1000898 diaphragmatic eventration 'diaphragmatic eventration' SubClassOf 'genetic disorder' 'diaphragmatic eventration' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://purl.obolibrary.org/obo/MONDO_0043543 iatrogenic disease 'iatrogenic disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018582 GCGR-related hyperglucagonemia 'GCGR-related hyperglucagonemia' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1000808 anterior compartment syndrome 'anterior compartment syndrome' SubClassOf 'muscle tissue disorder' 'anterior compartment syndrome' SubClassOf 'skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0018438 eosinophilic gastrointestinal disease 'eosinophilic gastrointestinal disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018469 pulmonary non-tuberculous mycobacterial infection 'pulmonary non-tuberculous mycobacterial infection' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1000934 eyelid neoplasm 'eyelid neoplasm' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1000941 frozen shoulder 'frozen shoulder' SubClassOf 'connective tissue disease' 'frozen shoulder' SubClassOf 'muscle tissue disorder' 'frozen shoulder' SubClassOf 'joint disease' http://www.ebi.ac.uk/efo/EFO_1000949 gastroschisis 'gastroschisis' SubClassOf 'non-syndromic diaphragmatic or abdominal wall malformation' 'gastroschisis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100298 http://purl.obolibrary.org/obo/MONDO_0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008919 systemic primary carnitine deficiency disease 'systemic primary carnitine deficiency disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://purl.obolibrary.org/obo/MONDO_0008918 carnitine-acylcarnitine translocase deficiency 'carnitine-acylcarnitine translocase deficiency' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome 'hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf 'material entity' 'hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf 'disease' 'hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1000639 acquired metabolic disease 'acquired metabolic disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018303 generalized isolated dystonia 'generalized isolated dystonia' SubClassOf 'isolated dystonia' 'generalized isolated dystonia' SubClassOf 'generalized dystonia' 'generalized isolated dystonia' EquivalentTo 'generalized dystonia' and 'isolated dystonia' 'generalized isolated dystonia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008993 cleft palate-stapes fixation-oligodontia syndrome 'cleft palate-stapes fixation-oligodontia syndrome' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0002608 AIDS dementia 'AIDS dementia' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1000663 acquired keratosis 'acquired keratosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018327 glomus tumor 'glomus tumor' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018343 periodic paralysis with later-onset distal motor neuropathy 'periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'congenital nervous system disorder' 'periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'inborn mitochondrial myopathy' http://www.ebi.ac.uk/efo/EFO_1000691 epidermolysis bullosa acquisita 'epidermolysis bullosa acquisita' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1000607 Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells 'Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1000616 Uveal Melanoma 'Uveal Melanoma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018201 extragonadal germ cell tumor 'extragonadal germ cell tumor' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018202 gonadal germ cell tumor 'gonadal germ cell tumor' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008895 hereditary arterial and articular multiple calcification syndrome 'hereditary arterial and articular multiple calcification syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018234 dysostosis 'dysostosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018247 CADDS 'CADDS' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome 'intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018242 autoimmune hypoparathyroidism 'autoimmune hypoparathyroidism' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1000737 multiple symmetric lipomatosis 'multiple symmetric lipomatosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008722 short chain acyl-CoA dehydrogenase deficiency 'short chain acyl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://purl.obolibrary.org/obo/MONDO_0008758 mitochondrial DNA depletion syndrome 4a 'mitochondrial DNA depletion syndrome 4a' SubClassOf 'mitochondrial DNA depletion syndrome, hepatocerebral form' 'mitochondrial DNA depletion syndrome 4a' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0008771 amelogenesis imperfecta type 1G 'amelogenesis imperfecta type 1G' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'amelogenesis imperfecta type 1G' SubClassOf 'inherited kidney disorder' 'amelogenesis imperfecta type 1G' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1000439 Pancreatic Acinar Cell Carcinoma 'Pancreatic Acinar Cell Carcinoma' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0002893 choriocarcinoma 'choriocarcinoma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008783 Tangier disease 'Tangier disease' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0018109 fulminant viral hepatitis 'fulminant viral hepatitis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018106 hereditary xanthinuria 'hereditary xanthinuria' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'hereditary xanthinuria' SubClassOf 'inherited kidney disorder' http://purl.obolibrary.org/obo/MONDO_0018102 corneal dystrophy 'corneal dystrophy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/HP_0009088 Speech articulation difficulties 'Speech articulation difficulties' SubClassOf 'Phenotypic abnormality' 'Speech articulation difficulties' SubClassOf 'Behavioral abnormality' http://www.ebi.ac.uk/efo/EFO_1000456 Parathyroid Gland Carcinoma 'Parathyroid Gland Carcinoma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008792 familial angiolipomatosis 'familial angiolipomatosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia 'galactosemia' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'galactosemia' SubClassOf 'inherited kidney disorder' 'galactosemia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018130 brain dopamine-serotonin vesicular transport disease 'brain dopamine-serotonin vesicular transport disease' SubClassOf 'inborn disorder of neurotransmitter metabolism and transport' 'brain dopamine-serotonin vesicular transport disease' SubClassOf 'inborn disorder of neurotransmitter metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0018168 primary non-essential cutis verticis gyrata 'primary non-essential cutis verticis gyrata' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018178 intestinal lymphangiectasia 'intestinal lymphangiectasia' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018191 tumor of testis and paratestis 'tumor of testis and paratestis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0000181 head and neck squamous cell carcinoma 'head and neck squamous cell carcinoma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form 'mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'mitochondrial DNA depletion syndrome, hepatocerebral form' 'mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0008667 von Hippel-Lindau disease 'von Hippel-Lindau disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0021637 low grade glioma 'low grade glioma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008684 Wolf-Hirschhorn syndrome 'Wolf-Hirschhorn syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Wolf-Hirschhorn syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008694 pseudoprogeria syndrome 'pseudoprogeria syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0018015 intermittent hydrarthrosis 'intermittent hydrarthrosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018027 duplication/inversion 15q11 'duplication/inversion 15q11' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018071 trisomy 18 'trisomy 18' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' http://purl.obolibrary.org/obo/MONDO_0018068 trisomy 13 'trisomy 13' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' http://purl.obolibrary.org/obo/MONDO_0018092 Vogt-Koyanagi-Harada disease 'Vogt-Koyanagi-Harada disease' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018087 viral hemorrhagic fever 'viral hemorrhagic fever' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016996 NK-cell enteropathy 'NK-cell enteropathy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0002413 glycogen storage disease I 'glycogen storage disease I' SubClassOf 'inherited kidney disorder' 'glycogen storage disease I' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'glycogen storage disease I' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0005225 human african trypanosomiasis 'human african trypanosomiasis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome 'severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'allergic disease' 'severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'hyper-IgE syndrome' 'severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'bearer_of' some 'rare' 'severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014226 idiopathic CD4 lymphocytopenia 'idiopathic CD4 lymphocytopenia' SubClassOf 'non-SCID combined immunodeficiency' 'idiopathic CD4 lymphocytopenia' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0002254 syndromic disease 'syndromic disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0014268 combined immunodeficiency due to OX40 deficiency 'combined immunodeficiency due to OX40 deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'combined immunodeficiency due to OX40 deficiency' SubClassOf 'hereditary neoplastic syndrome' 'combined immunodeficiency due to OX40 deficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0014276 combined immunodeficiency due to CD3gamma deficiency 'combined immunodeficiency due to CD3gamma deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'combined immunodeficiency due to CD3gamma deficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/HP_0000733 Motor stereotypy 'Motor stereotypy' SubClassOf 'Abnormality of movement' 'Motor stereotypy' SubClassOf 'Abnormal central motor function' http://purl.obolibrary.org/obo/HP_0000750 Delayed speech and language development 'Delayed speech and language development' SubClassOf 'Behavioral abnormality' http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis 'amyotrophic lateral sclerosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0002312 opportunistic mycosis 'opportunistic mycosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0002320 congenital nervous system disorder 'congenital nervous system disorder' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0014300 proximal myopathy with extrapyramidal signs 'proximal myopathy with extrapyramidal signs' SubClassOf 'material entity' http://purl.obolibrary.org/obo/HP_0000708 Behavioral abnormality 'Behavioral abnormality' SubClassOf 'Abnormal nervous system physiology' 'Behavioral abnormality' SubClassOf 'Abnormality of higher mental function' http://purl.obolibrary.org/obo/MONDO_0016749 tumor of cranial and spinal nerves 'tumor of cranial and spinal nerves' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016748 hemangioblastoma 'hemangioblastoma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome 'inherited nervous system cancer-predisposing syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0014157 mandibular hypoplasia-deafness-progeroid syndrome 'mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'progeroid syndrome' 'mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'premature aging syndrome' http://purl.obolibrary.org/obo/MONDO_0014160 TCR-alpha-beta-positive T-cell deficiency 'TCR-alpha-beta-positive T-cell deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'TCR-alpha-beta-positive T-cell deficiency' SubClassOf 'non-SCID combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014197 combined immunodeficiency due to MALT1 deficiency 'combined immunodeficiency due to MALT1 deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'combined immunodeficiency due to MALT1 deficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0016808 mitochondrial DNA depletion syndrome, hepatocerebral form 'mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'bearer_of' some 'rare' 'mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016824 infantile myofibromatosis 'infantile myofibromatosis' SubClassOf 'muscular tumor' http://purl.obolibrary.org/obo/MONDO_0016850 atypical Norrie disease due to monosomy Xp11.3 'atypical Norrie disease due to monosomy Xp11.3' SubClassOf 'partial monosomy of the short arm of chromosome X' 'atypical Norrie disease due to monosomy Xp11.3' SubClassOf 'partial monosomy of the short arm of chromosome X' http://purl.obolibrary.org/obo/MONDO_0004657 disseminated chorioretinitis 'disseminated chorioretinitis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0002009 major depressive disorder 'major depressive disorder' SubClassOf 'depressive disorder' 'major depressive disorder' SubClassOf 'depressive disorder' http://purl.obolibrary.org/obo/MONDO_0014074 Charcot-Marie-Tooth disease dominant intermediate F 'Charcot-Marie-Tooth disease dominant intermediate F' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease dominant intermediate F' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome 'cryptosporidiosis-chronic cholangitis-liver disease syndrome' SubClassOf 'non-SCID combined immunodeficiency' 'cryptosporidiosis-chronic cholangitis-liver disease syndrome' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0016708 embryonal tumor of neuroepithelial tissue 'embryonal tumor of neuroepithelial tissue' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0004746 myopathy of extraocular muscle 'myopathy of extraocular muscle' SubClassOf 'skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0016729 mixed neuronal-glial tumor 'mixed neuronal-glial tumor' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016726 neuronal tumor 'neuronal tumor' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016721 pineal tumor of neuroepithelial tissue 'pineal tumor of neuroepithelial tissue' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome 'epibulbar lipodermoid-preauricular appendage-polythelia syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016511 infectious embryofetopathy 'infectious embryofetopathy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016524 congenital vascular bone syndrome 'congenital vascular bone syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016536 autosomal recessive lymphoproliferative disease 'autosomal recessive lymphoproliferative disease' SubClassOf 'lymphoproliferative syndrome' 'autosomal recessive lymphoproliferative disease' SubClassOf 'non-SCID combined immunodeficiency' 'autosomal recessive lymphoproliferative disease' SubClassOf 'lymphoproliferative syndrome' http://purl.obolibrary.org/obo/MONDO_0016537 lymphoproliferative syndrome 'lymphoproliferative syndrome' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0016589 progressive cerebello-cerebral atrophy 'progressive cerebello-cerebral atrophy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016584 mandibuloacral dysplasia 'mandibuloacral dysplasia' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0016593 acquired ataxia 'acquired ataxia' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0005676 Autoimmune Hepatitis 'Autoimmune Hepatitis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016605 perinatal lethal hypophosphatasia 'perinatal lethal hypophosphatasia' SubClassOf 'hypophosphatasia' 'perinatal lethal hypophosphatasia' SubClassOf 'hypophosphatasia' http://purl.obolibrary.org/obo/MONDO_0016611 lipoblastoma 'lipoblastoma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016434 acquired dermis elastic tissue disorder 'acquired dermis elastic tissue disorder' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016431 autosomal dominant Charcot-Marie-Tooth disease type 2M 'autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0016441 acquired pseudoxanthoma elasticum 'acquired pseudoxanthoma elasticum' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0100249 46,XX testicular disorder of sex development '46,XX testicular disorder of sex development' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018949 distal myopathy 'distal myopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018947 centronuclear myopathy 'centronuclear myopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018943 myofibrillar myopathy 'myofibrillar myopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy 'nemaline myopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018999 LCAT deficiency 'LCAT deficiency' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'LCAT deficiency' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0018994 Charcot-Marie-Tooth disease type X 'Charcot-Marie-Tooth disease type X' SubClassOf 'Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease type X' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0016354 xeroderma pigmentosum-Cockayne syndrome complex 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'progeroid syndrome' 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0016369 Rothmund-Thomson syndrome type 2 'Rothmund-Thomson syndrome type 2' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome 'hypogonadism-mitral valve prolapse-intellectual disability syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0100122 UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency 'UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency' SubClassOf 'mucolipidosis' 'UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency' SubClassOf 'mucolipidosis' http://purl.obolibrary.org/obo/MONDO_0018848 IgG4-related retroperitoneal fibrosis 'IgG4-related retroperitoneal fibrosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016205 IRVAN syndrome 'IRVAN syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0600003 bacterial hemorrhagic fever 'bacterial hemorrhagic fever' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016226 specific language disorder 'specific language disorder' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016222 spindle cell hemangioma 'spindle cell hemangioma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016223 infantile hemangioma of rare localization 'infantile hemangioma of rare localization' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018884 Roch-Leri mesosomatous lipomatosis 'Roch-Leri mesosomatous lipomatosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016236 kaposiform hemangioendothelioma 'kaposiform hemangioendothelioma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0043839 ulcer disease 'ulcer disease' SubClassOf 'injury' 'ulcer disease' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0100016 early-onset generalized dystonia 'early-onset generalized dystonia' SubClassOf 'generalized isolated dystonia' 'early-onset generalized dystonia' SubClassOf 'generalized dystonia' http://purl.obolibrary.org/obo/MONDO_0016277 malignant mixed epithelial and mesenchymal tumor of cervix uteri 'malignant mixed epithelial and mesenchymal tumor of cervix uteri' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0005803 hematologic disease 'hematologic disease' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0005783 NUT midline carcinoma 'NUT midline carcinoma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0012634 craniofacial dysplasia - osteopenia syndrome 'craniofacial dysplasia - osteopenia syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0009007 Jalili syndrome 'Jalili syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0010002 Rothmund-Thomson syndrome 'Rothmund-Thomson syndrome' SubClassOf 'eye disease' 'Rothmund-Thomson syndrome' SubClassOf 'progeroid syndrome' 'Rothmund-Thomson syndrome' SubClassOf 'hereditary poikiloderma' http://purl.obolibrary.org/obo/MONDO_0012675 corticosteroid-binding globulin deficiency 'corticosteroid-binding globulin deficiency' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0009034 craniofacial dyssynostosis 'craniofacial dyssynostosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0010023 combined immunodeficiency due to ZAP70 deficiency 'combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0010026 SHORT syndrome 'SHORT syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0009068 cytochrome-c oxidase deficiency disease 'cytochrome-c oxidase deficiency disease' SubClassOf 'isolated oxidative phosphorylation complex disorder' 'cytochrome-c oxidase deficiency disease' SubClassOf 'isolated oxidative phosphorylation complex disorder' http://purl.obolibrary.org/obo/MONDO_0010060 infantile onset spinocerebellar ataxia 'infantile onset spinocerebellar ataxia' SubClassOf 'mitochondrial DNA depletion syndrome, hepatocerebral form' 'infantile onset spinocerebellar ataxia' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0009089 deafness-oligodontia syndrome 'deafness-oligodontia syndrome' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0009567 Spirochaetales Infections 'Spirochaetales Infections' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0000509 non-syndromic intellectual disability 'non-syndromic intellectual disability' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0012517 atypical Gaucher disease due to saposin C deficiency 'atypical Gaucher disease due to saposin C deficiency' SubClassOf 'Gaucher disease' 'atypical Gaucher disease due to saposin C deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100517 http://purl.obolibrary.org/obo/MONDO_0024502 gallbladder neuroendocrine neoplasm 'gallbladder neuroendocrine neoplasm' SubClassOf 'inherited neuroendocrine tumor' http://purl.obolibrary.org/obo/MONDO_0000568 autoimmune disorder of central nervous system 'autoimmune disorder of central nervous system' SubClassOf 'central nervous system disease' 'autoimmune disorder of central nervous system' SubClassOf 'autoimmune disorder of the nervous system' http://www.ebi.ac.uk/efo/EFO_1002049 glomerular disease 'glomerular disease' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007214 common cold 'common cold' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007216 congenital diaphragmatic hernia 'congenital diaphragmatic hernia' SubClassOf 'genetic disorder' 'congenital diaphragmatic hernia' SubClassOf 'non-syndromic diaphragmatic or abdominal wall malformation' 'congenital diaphragmatic hernia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://www.ebi.ac.uk/efo/EFO_0007232 cystoisosporiasis 'cystoisosporiasis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007231 cysticercosis 'cysticercosis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007230 cyclosporiasis 'cyclosporiasis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007233 diaphragm disease 'diaphragm disease' SubClassOf 'skeletal muscle disorder' 'diaphragm disease' SubClassOf 'skeletal muscle disorder' http://www.ebi.ac.uk/efo/EFO_0007238 diphyllobothriasis 'diphyllobothriasis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007285 Gerstmann syndrome 'Gerstmann syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0000437 cerebellar ataxia 'cerebellar ataxia' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0000476 generalized dystonia 'generalized dystonia' SubClassOf 'dystonic disorder' 'generalized dystonia' SubClassOf 'isolated dystonia' http://www.ebi.ac.uk/efo/EFO_0007126 Acanthamoeba keratitis 'Acanthamoeba keratitis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007128 actinomycosis 'actinomycosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0024287 congenital vascular malformation 'congenital vascular malformation' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007146 anisakiasis 'anisakiasis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007163 balantidiasis 'balantidiasis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007162 babesiosis 'babesiosis' SubClassOf 'disease has feature' some 'major depressive disorder' 'babesiosis' SubClassOf 'material entity' 'babesiosis' SubClassOf 'disease has feature' some 'unipolar depression' http://www.orpha.net/ORDO/Orphanet_261572 Blepharophimosis - epicanthus inversus - ptosis due to a point mutation 'Blepharophimosis - epicanthus inversus - ptosis due to a point mutation' SubClassOf 'Blepharophimosis - epicanthus inversus - ptosis' 'Blepharophimosis - epicanthus inversus - ptosis due to a point mutation' SubClassOf 'blepharophimosis, ptosis, and epicanthus inversus syndrome' http://purl.obolibrary.org/obo/MONDO_0000314 primary bacterial infectious disease 'primary bacterial infectious disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0000316 opportunistic bacterial infectious disease 'opportunistic bacterial infectious disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0000355 Ullrich congenital muscular dystrophy 'Ullrich congenital muscular dystrophy' SubClassOf 'genetic disorder' 'Ullrich congenital muscular dystrophy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0000386 digestive system neuroendocrine tumor, grade 1/2 'digestive system neuroendocrine tumor, grade 1/2' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007443 placental insufficiency 'placental insufficiency' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0000173 muscular dystrophy-dystroglycanopathy, type C 'muscular dystrophy-dystroglycanopathy, type C' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000172 muscular dystrophy-dystroglycanopathy, type B 'muscular dystrophy-dystroglycanopathy, type B' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0007460 reactive arthritis 'reactive arthritis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation 'susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'non-SCID combined immunodeficiency' 'susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'predisposes towards' some 'respiratory tract infectious disorder' 'susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'hereditary predisposition to infections' http://purl.obolibrary.org/obo/MONDO_0000192 polyglucosan body myopathy 'polyglucosan body myopathy' SubClassOf 'genetic disorder' 'polyglucosan body myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://purl.obolibrary.org/obo/MONDO_0012176 Emanuel syndrome 'Emanuel syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' http://www.ebi.ac.uk/efo/EFO_0007476 sarcocystosis 'sarcocystosis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007494 sporotrichosis 'sporotrichosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0002847 skeletal muscle cancer 'skeletal muscle cancer' SubClassOf 'skeletal muscle neoplasm' 'skeletal muscle cancer' SubClassOf 'muscle cancer' http://purl.obolibrary.org/obo/MONDO_0002848 skeletal muscle neoplasm 'skeletal muscle neoplasm' SubClassOf 'neoplasm' 'skeletal muscle neoplasm' SubClassOf 'skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0014834 dyskinesia, limb and orofacial, infantile-onset 'dyskinesia, limb and orofacial, infantile-onset' SubClassOf 'genetic disorder' 'dyskinesia, limb and orofacial, infantile-onset' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0700084 myopathy caused by variation in GMPPB 'myopathy caused by variation in GMPPB' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://purl.obolibrary.org/obo/MONDO_0000212 hypercalcemia, infantile 'hypercalcemia, infantile' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'hypercalcemia, infantile' SubClassOf 'inherited kidney disorder' http://purl.obolibrary.org/obo/HP_0030242 Portal vein thrombosis 'Portal vein thrombosis' SubClassOf 'Abnormality of the vasculature' 'Portal vein thrombosis' SubClassOf 'Abnormality of the liver' http://purl.obolibrary.org/obo/MONDO_0700071 myopathy caused by variation in POMT2 'myopathy caused by variation in POMT2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://purl.obolibrary.org/obo/MONDO_0700070 myopathy caused by variation in POMT1 'myopathy caused by variation in POMT1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://purl.obolibrary.org/obo/MONDO_0700069 myopathy caused by variation in POMGNT2 'myopathy caused by variation in POMGNT2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://purl.obolibrary.org/obo/MONDO_0700068 myopathy caused by variation in POMGNT1 'myopathy caused by variation in POMGNT1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://purl.obolibrary.org/obo/MONDO_0700067 myopathy caused by variation in FKTN 'myopathy caused by variation in FKTN' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://purl.obolibrary.org/obo/MONDO_0700066 myopathy caused by variation in FKRP 'myopathy caused by variation in FKRP' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://purl.obolibrary.org/obo/MONDO_0000254 cutaneous mycosis 'cutaneous mycosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0000256 systemic mycosis 'systemic mycosis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007425 peanut allergic reaction 'peanut allergic reaction' SubClassOf 'food allergy' 'peanut allergic reaction' SubClassOf 'allergic disease' 'peanut allergic reaction' SubClassOf 'food allergy' http://purl.obolibrary.org/obo/MONDO_0700007 idiopathic disease 'idiopathic disease' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007317 hymenolepiasis 'hymenolepiasis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007369 milk allergic reaction 'milk allergic reaction' SubClassOf 'allergic disease' 'milk allergic reaction' SubClassOf 'food allergy' 'milk allergic reaction' SubClassOf 'food allergy' http://www.ebi.ac.uk/efo/EFO_0007371 Miller Fisher syndrome 'Miller Fisher syndrome' SubClassOf 'autoimmune disorder of central nervous system' 'Miller Fisher syndrome' SubClassOf http://www.ebi.ac.uk/efo/EFO_0020092 http://www.ebi.ac.uk/efo/EFO_0007389 myiasis 'myiasis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0012104 acquired partial lipodystrophy 'acquired partial lipodystrophy' SubClassOf 'progeroid syndrome' 'acquired partial lipodystrophy' SubClassOf 'developmental anomaly of metabolic origin' http://www.ebi.ac.uk/efo/EFO_0007304 hepatitis D virus infection 'hepatitis D virus infection' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0012124 sudden infant death-dysgenesis of the testes syndrome 'sudden infant death-dysgenesis of the testes syndrome' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0005044 Leishmaniasis 'Leishmaniasis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0030069 complete genomic deletion 'complete genomic deletion' SubClassOf 'copy number loss' 'complete genomic deletion' SubClassOf http://www.ebi.ac.uk/efo/EFO_0020073 http://purl.obolibrary.org/obo/MONDO_0002601 teratoma 'teratoma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0014637 DOCK2 deficiency 'DOCK2 deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'DOCK2 deficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0014645 BENTA disease 'BENTA disease' SubClassOf 'non-SCID combined immunodeficiency' 'BENTA disease' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0012012 Charcot-Marie-Tooth disease dominant intermediate C 'Charcot-Marie-Tooth disease dominant intermediate C' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease dominant intermediate C' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0002474 primary hyperoxaluria 'primary hyperoxaluria' SubClassOf 'inherited kidney disorder' 'primary hyperoxaluria' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'primary hyperoxaluria' SubClassOf 'inborn carbohydrate metabolic disorder' http://www.ebi.ac.uk/efo/EFO_0007501 strongyloidiasis 'strongyloidiasis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0014527 progeroid features-hepatocellular carcinoma predisposition syndrome 'progeroid features-hepatocellular carcinoma predisposition syndrome' SubClassOf 'progeroid syndrome' 'progeroid features-hepatocellular carcinoma predisposition syndrome' SubClassOf 'disorder of development or morphogenesis' http://www.ebi.ac.uk/efo/EFO_0007516 toxocariasis 'toxocariasis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0010824 disorder of sex development-intellectual disability syndrome 'disorder of sex development-intellectual disability syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0010826 childhood absence epilepsy 'childhood absence epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0850093 http://purl.obolibrary.org/obo/MONDO_0009857 persistent Mullerian duct syndrome 'persistent Mullerian duct syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome 'Imerslund-Grasbeck syndrome' SubClassOf 'inherited kidney disorder' 'Imerslund-Grasbeck syndrome' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' http://www.ebi.ac.uk/efo/EFO_1001518 heavy metal poisoning 'heavy metal poisoning' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0010840 pachygyria-intellectual disability-epilepsy syndrome 'pachygyria-intellectual disability-epilepsy syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0009868 glycogen storage disease IXb 'glycogen storage disease IXb' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://purl.obolibrary.org/obo/MONDO_0009865 glycogen storage disease due to phosphoglycerate mutase deficiency 'glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'muscular glycogenosis' http://purl.obolibrary.org/obo/MONDO_0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis 'autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'partial deletion of the short arm of chromosome 16' 'autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'partial deletion of the short arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0019202 myxofibrosarcoma 'myxofibrosarcoma' SubClassOf 'muscular tumor' 'myxofibrosarcoma' SubClassOf 'skeletal muscle cancer' http://purl.obolibrary.org/obo/MONDO_0009895 postaxial polydactyly-dental and vertebral anomalies syndrome 'postaxial polydactyly-dental and vertebral anomalies syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020204 conjunctival tumor 'conjunctival tumor' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020203 pigmented conjunctival lesion 'pigmented conjunctival lesion' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020245 disease predisposing to age-related macular degeneration 'disease predisposing to age-related macular degeneration' SubClassOf 'inherited vitreous-retinal disease' 'disease predisposing to age-related macular degeneration' SubClassOf 'inherited vitreous-retinal disease' http://purl.obolibrary.org/obo/MONDO_0020249 hereditary optic neuropathy 'hereditary optic neuropathy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019268 epidermal disease 'epidermal disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019277 epidermal appendage anomaly 'epidermal appendage anomaly' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019294 mixed dermis disorder 'mixed dermis disorder' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0009717 Schwartz-Jampel syndrome 'Schwartz-Jampel syndrome' SubClassOf 'progressive muscular dystrophy' 'Schwartz-Jampel syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://purl.obolibrary.org/obo/MONDO_0009710 Thomsen and Becker disease 'Thomsen and Becker disease' SubClassOf 'congenital myopathy' 'Thomsen and Becker disease' SubClassOf 'congenital nervous system disorder' 'Thomsen and Becker disease' SubClassOf 'congenital myotonia' http://purl.obolibrary.org/obo/MONDO_0009747 Navajo neurohepatopathy 'Navajo neurohepatopathy' SubClassOf 'mitochondrial DNA depletion syndrome, hepatocerebral form' 'Navajo neurohepatopathy' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0009742 neuroectodermal melanolysosomal disease 'neuroectodermal melanolysosomal disease' SubClassOf 'eye disease' 'neuroectodermal melanolysosomal disease' SubClassOf 'overgrowth syndrome' 'neuroectodermal melanolysosomal disease' SubClassOf 'hyperpigmentation of the skin' 'neuroectodermal melanolysosomal disease' SubClassOf 'bearer_of' some 'rare' 'neuroectodermal melanolysosomal disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010735 Kennedy disease 'Kennedy disease' SubClassOf 'hereditary motor neuron disease' 'Kennedy disease' SubClassOf 'male infertility' 'Kennedy disease' SubClassOf 'bulbospinal muscular atrophy of adulthood' 'Kennedy disease' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0010742 pentalogy of Cantrell 'pentalogy of Cantrell' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'pentalogy of Cantrell' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009774 cloacal exstrophy 'cloacal exstrophy' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' http://purl.obolibrary.org/obo/MONDO_0009780 lethal omphalocele-cleft palate syndrome 'lethal omphalocele-cleft palate syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' http://purl.obolibrary.org/obo/MONDO_0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome 'dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020117 alpha granule disease 'alpha granule disease' SubClassOf 'isolated hereditary giant platelet disorder' 'alpha granule disease' SubClassOf 'isolated hereditary giant platelet disorder' http://purl.obolibrary.org/obo/MONDO_0019128 mullerian aplasia 'mullerian aplasia' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019126 intractable diarrhea of infancy 'intractable diarrhea of infancy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019152 Oguchi disease 'Oguchi disease' SubClassOf 'inherited retinal dystrophy' 'Oguchi disease' SubClassOf 'congenital stationary night blindness' 'Oguchi disease' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0020125 acquired neuromuscular junction disease 'acquired neuromuscular junction disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020121 muscular dystrophy 'muscular dystrophy' SubClassOf 'skeletal muscle disorder' 'muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 'muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100167 http://purl.obolibrary.org/obo/MONDO_0020129 acquired motor neuron disease 'acquired motor neuron disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020158 eyelids malposition disorder 'eyelids malposition disorder' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019154 androgen insensitivity syndrome 'androgen insensitivity syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome 'brain malformation-congenital heart disease-postaxial polydactyly syndrome' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye 'developmental defect of the eye' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020144 cerebrovascular dementia 'cerebrovascular dementia' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019191 IgG4-related dacryoadenitis and sialadenitis 'IgG4-related dacryoadenitis and sialadenitis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020163 canthal anomaly 'canthal anomaly' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020193 secretory apparatus of the lacrimal system anomaly 'secretory apparatus of the lacrimal system anomaly' SubClassOf 'material entity' 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 'material entity' http://purl.obolibrary.org/obo/MONDO_0020195 excretory apparatus of the lacrimal system anomaly 'excretory apparatus of the lacrimal system anomaly' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1001333 Glycogen Storage Disease Type 2b 'Glycogen Storage Disease Type 2b' SubClassOf 'lysosomal glycogen storage disease' 'Glycogen Storage Disease Type 2b' SubClassOf 'muscular glycogenosis' 'Glycogen Storage Disease Type 2b' SubClassOf 'lysosomal glycogen storage disease' http://www.ebi.ac.uk/efo/EFO_1001349 Human T-lymphotropic virus 2 infectious disease 'Human T-lymphotropic virus 2 infectious disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0009617 microcephaly 1, primary, autosomal recessive 'microcephaly 1, primary, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100200 http://purl.obolibrary.org/obo/MONDO_0009636 mitochondrial DNA depletion syndrome 3 'mitochondrial DNA depletion syndrome 3' SubClassOf 'mitochondrial DNA depletion syndrome, hepatocerebral form' 'mitochondrial DNA depletion syndrome 3' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor 'kidney Wilms tumor' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020010 infectious disorder of the nervous system 'infectious disorder of the nervous system' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation 'digestive tract malformation' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020001 respiratory or thoracic malformation 'respiratory or thoracic malformation' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019022 sensorineural hearing loss-early graying-essential tremor syndrome 'sensorineural hearing loss-early graying-essential tremor syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal disorder 'chromosomal disorder' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome 'multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation 'central nervous system malformation' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation 'diaphragmatic or abdominal wall malformation' SubClassOf 'material entity' 'diaphragmatic or abdominal wall malformation' SubClassOf 'bearer_of' some 'rare' 'diaphragmatic or abdominal wall malformation' SubClassOf 'developmental defect during embryogenesis' 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 'material entity' http://purl.obolibrary.org/obo/MONDO_0007077 Tietz syndrome 'Tietz syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019054 congenital limb malformation 'congenital limb malformation' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019072 intrahepatic cholestasis 'intrahepatic cholestasis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1001286 Caroli Disease 'Caroli Disease' SubClassOf 'genetic biliary tract disease' 'Caroli Disease' SubClassOf 'genetic biliary tract disease' http://purl.obolibrary.org/obo/CL_0005019 pancreatic epsilon cell 'pancreatic epsilon cell' SubClassOf 'pancreatic cell' 'pancreatic epsilon cell' SubClassOf 'epithelial cell of pancreas' http://purl.obolibrary.org/obo/MONDO_0019088 post-transplant lymphoproliferative disease 'post-transplant lymphoproliferative disease' SubClassOf 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' 'post-transplant lymphoproliferative disease' SubClassOf 'T-cell non-Hodgkin lymphoma' 'post-transplant lymphoproliferative disease' SubClassOf 'immunodeficiency-associated lymphoproliferative disease' 'post-transplant lymphoproliferative disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700220 http://purl.obolibrary.org/obo/MONDO_0020083 immunodeficiency-associated lymphoproliferative disease 'immunodeficiency-associated lymphoproliferative disease' SubClassOf 'lymphoid hemopathy' http://www.ebi.ac.uk/efo/EFO_1001445 Tungiasis 'Tungiasis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1001475 schistosomiasis 'schistosomiasis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0009517 Donohue syndrome 'Donohue syndrome' SubClassOf 'hypertrichosis' 'Donohue syndrome' SubClassOf 'progeroid syndrome' 'Donohue syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009515 Norum disease 'Norum disease' SubClassOf 'inherited kidney disorder' http://purl.obolibrary.org/obo/MONDO_0009528 chylomicron retention disease 'chylomicron retention disease' SubClassOf 'intestinal disease due to fat malabsorption' http://purl.obolibrary.org/obo/MONDO_0010526 Fabry disease 'Fabry disease' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'Fabry disease' SubClassOf 'inherited kidney disorder' 'Fabry disease' SubClassOf 'familial restrictive cardiomyopathy' 'Fabry disease' SubClassOf 'genetic peripheral neuropathy' 'Fabry disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010545 Nance-Horan syndrome 'Nance-Horan syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0009577 megalocornea-intellectual disability syndrome 'megalocornea-intellectual disability syndrome' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1001101 periventricular leukomalacia 'periventricular leukomalacia' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1001144 rat-bite fever 'rat-bite fever' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome 'primary hypergonadotropic hypogonadism-partial alopecia syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0010457 Ogden syndrome 'Ogden syndrome' SubClassOf 'progeroid syndrome' 'Ogden syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome 'natal teeth-intestinal pseudoobstruction-patent ductus syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf 'non-SCID combined immunodeficiency' 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf 'combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0009478 combined immunodeficiency due to DOCK8 deficiency 'combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'hyper-IgE syndrome' 'combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'hyper-IgE syndrome' http://www.ebi.ac.uk/efo/EFO_1001063 noma 'noma' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1001060 neovascular glaucoma 'neovascular glaucoma' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1001250 rotator cuff tear 'rotator cuff tear' SubClassOf 'muscle tissue disorder' 'rotator cuff tear' SubClassOf 'skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0012907 blindness - scoliosis - arachnodactyly syndrome 'blindness - scoliosis - arachnodactyly syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0000995 familial periodic paralysis 'familial periodic paralysis' SubClassOf 'metabolic myopathy' http://purl.obolibrary.org/obo/MONDO_0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome 'X-linked epilepsy-learning disabilities-behavior disorders syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0859390 http://www.ebi.ac.uk/efo/EFO_1001158 retinopathy of prematurity 'retinopathy of prematurity' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0010362 glycogen storage disease IXd 'glycogen storage disease IXd' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://www.ebi.ac.uk/efo/EFO_1001162 rickettsiosis 'rickettsiosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' SubClassOf 'X-linked Mendelian susceptibility to mycobacterial diseases' 'X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' SubClassOf 'X-linked Mendelian susceptibility to mycobacterial diseases' http://www.ebi.ac.uk/efo/EFO_1001186 Sneddon syndrome 'Sneddon syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0010395 phosphoribosylpyrophosphate synthetase superactivity 'phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'inherited kidney disorder' http://purl.obolibrary.org/obo/MONDO_0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency 'glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'familial hemolytic anemia' 'glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'muscular glycogenosis' 'glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'anemia due to erythrocyte enzyme disorder' http://purl.obolibrary.org/obo/MONDO_0022394 cervical intraepithelial neoplasia 'cervical intraepithelial neoplasia' SubClassOf 'material entity' http://www.orpha.net/ORDO/Orphanet_126 Blepharophimosis - epicanthus inversus - ptosis 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Rare female infertility due to an anomaly of ovarian function of genetic origin' 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Kinetic eyelid anomaly' 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Genetic developmental defect of the eye' 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf 'Non-acquired premature ovarian failure' 'Blepharophimosis - epicanthus inversus - ptosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012853 Fontaine progeroid syndrome 'Fontaine progeroid syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0009216 glycogen storage disease due to GLUT2 deficiency 'glycogen storage disease due to GLUT2 deficiency' SubClassOf 'glucose transport disorder' 'glycogen storage disease due to GLUT2 deficiency' SubClassOf 'inherited kidney disorder' 'glycogen storage disease due to GLUT2 deficiency' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'glycogen storage disease due to GLUT2 deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010200 Wilson disease 'Wilson disease' SubClassOf 'disorder of copper metabolism' 'Wilson disease' SubClassOf 'disorder of copper metabolism' http://purl.obolibrary.org/obo/MONDO_0010220 Young syndrome 'Young syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0009249 hereditary fructose intolerance 'hereditary fructose intolerance' SubClassOf 'congenital intestinal transport defect' 'hereditary fructose intolerance' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'hereditary fructose intolerance' SubClassOf 'inherited kidney disorder' 'hereditary fructose intolerance' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009253 Fryns syndrome 'Fryns syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Fryns syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009267 Gaucher disease type III 'Gaucher disease type III' SubClassOf 'cerebral lipidosis with dementia' 'Gaucher disease type III' SubClassOf 'interstitial lung disease specific to childhood' 'Gaucher disease type III' SubClassOf 'familial restrictive cardiomyopathy' 'Gaucher disease type III' SubClassOf 'secondary avascular necrosis' 'Gaucher disease type III' SubClassOf 'avascular necrosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0009266 Gaucher disease type II 'Gaucher disease type II' SubClassOf 'cerebral lipidosis with dementia' 'Gaucher disease type II' SubClassOf 'interstitial lung disease specific to childhood' http://purl.obolibrary.org/obo/MONDO_0009295 glycogen storage disease VII 'glycogen storage disease VII' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://purl.obolibrary.org/obo/MONDO_0009293 glycogen storage disease V 'glycogen storage disease V' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://purl.obolibrary.org/obo/MONDO_0009292 glycogen storage disease due to glycogen branching enzyme deficiency 'glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'familial dilated cardiomyopathy' 'glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'muscular glycogenosis' 'glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009290 glycogen storage disease II 'glycogen storage disease II' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://purl.obolibrary.org/obo/MONDO_0009297 familial renal glucosuria 'familial renal glucosuria' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' http://purl.obolibrary.org/obo/MONDO_0010288 adrenomyodystrophy 'adrenomyodystrophy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0012719 encephalopathy due to prosaposin deficiency 'encephalopathy due to prosaposin deficiency' SubClassOf 'sphingolipidosis' 'encephalopathy due to prosaposin deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100517 http://purl.obolibrary.org/obo/MONDO_0009104 Donnai-Barrow syndrome 'Donnai-Barrow syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'Donnai-Barrow syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome 'non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0012786 juvenile cataract-microcornea-renal glucosuria syndrome 'juvenile cataract-microcornea-renal glucosuria syndrome' SubClassOf 'inherited kidney disorder' 'juvenile cataract-microcornea-renal glucosuria syndrome' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' http://purl.obolibrary.org/obo/MONDO_0009168 Fowler syndrome 'Fowler syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0009173 congenital enteropathy due to enteropeptidase deficiency 'congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0010155 Dorfman-Chanarin disease 'Dorfman-Chanarin disease' SubClassOf 'syndromic dyslipidemia' 'Dorfman-Chanarin disease' SubClassOf 'neutral lipid storage disease' 'Dorfman-Chanarin disease' SubClassOf 'autosomal ichthyosis syndrome' 'Dorfman-Chanarin disease' SubClassOf 'neutral lipid storage disease' http://purl.obolibrary.org/obo/MONDO_0010161 tyrosinemia type I 'tyrosinemia type I' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'tyrosinemia type I' SubClassOf 'genetic peripheral neuropathy' 'tyrosinemia type I' SubClassOf 'inherited kidney disorder' 'tyrosinemia type I' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010196 Werner syndrome 'Werner syndrome' SubClassOf 'bearer_of' some 'rare' 'Werner syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/HP_0001397 Hepatic steatosis 'Hepatic steatosis' SubClassOf 'Abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/MONDO_0005301 multiple sclerosis 'multiple sclerosis' SubClassOf 'autoimmune disorder of central nervous system' 'multiple sclerosis' SubClassOf http://www.ebi.ac.uk/efo/EFO_0020092 http://purl.obolibrary.org/obo/MONDO_0019946 ligneous conjunctivitis 'ligneous conjunctivitis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019952 congenital myopathy 'congenital myopathy' SubClassOf 'material entity' 'congenital myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 'congenital myopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100167 http://purl.obolibrary.org/obo/MONDO_0017301 pericardial and diaphragmatic defect 'pericardial and diaphragmatic defect' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'pericardial and diaphragmatic defect' SubClassOf 'bearer_of' some 'rare' 'pericardial and diaphragmatic defect' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017318 phakomatosis pigmentovascularis 'phakomatosis pigmentovascularis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017337 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency 'inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017341 virus associated tumor 'virus associated tumor' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017366 hereditary pheochromocytoma-paraganglioma 'hereditary pheochromocytoma-paraganglioma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017396 toxic dermatosis 'toxic dermatosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0007808 ichthyosis hystrix of Curth-Macklin 'ichthyosis hystrix of Curth-Macklin' SubClassOf 'keratinopathic ichthyosis' 'ichthyosis hystrix of Curth-Macklin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0859383 http://purl.obolibrary.org/obo/MONDO_0007809 ichthyosis hystrix gravior 'ichthyosis hystrix gravior' SubClassOf 'keratinopathic ichthyosis' 'ichthyosis hystrix gravior' SubClassOf http://purl.obolibrary.org/obo/MONDO_0859383 http://purl.obolibrary.org/obo/MONDO_0019803 angioma serpiginosum 'angioma serpiginosum' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019832 acquired pituitary hormone deficiency 'acquired pituitary hormone deficiency' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019846 acquired central diabetes insipidus 'acquired central diabetes insipidus' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0007872 LADD syndrome 'LADD syndrome' SubClassOf 'EEC syndrome and related syndrome' 'LADD syndrome' SubClassOf 'genetic otorhinolaryngological malformation' 'LADD syndrome' SubClassOf 'nose and cavum anomaly' http://purl.obolibrary.org/obo/MONDO_0019851 acquired primary ovarian failure 'acquired primary ovarian failure' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia 'vitamin B12-responsive methylmalonic acidemia' SubClassOf 'inherited kidney disorder' 'vitamin B12-responsive methylmalonic acidemia' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' http://purl.obolibrary.org/obo/MONDO_0019899 distal monosomy 20q 'distal monosomy 20q' SubClassOf 'partial deletion of the long arm of chromosome 20' 'distal monosomy 20q' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017234 inherited prion disease 'inherited prion disease' SubClassOf 'genetic dementia' 'inherited prion disease' SubClassOf 'inherited neurodegenerative disorder' 'inherited prion disease' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0017235 familial omphalocele syndrome with facial dysmorphism 'familial omphalocele syndrome with facial dysmorphism' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'familial omphalocele syndrome with facial dysmorphism' SubClassOf 'bearer_of' some 'rare' 'familial omphalocele syndrome with facial dysmorphism' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017279 young-onset Parkinson disease 'young-onset Parkinson disease' SubClassOf 'Parkinson disease' 'young-onset Parkinson disease' SubClassOf 'primary orthostatic hypotension' 'young-onset Parkinson disease' SubClassOf 'Parkinson disease' http://www.ebi.ac.uk/efo/EFO_0001066 experimental autoimmune encephalomyelitis 'experimental autoimmune encephalomyelitis' SubClassOf 'autoimmune disorder of central nervous system' 'experimental autoimmune encephalomyelitis' SubClassOf http://www.ebi.ac.uk/efo/EFO_0020092 http://purl.obolibrary.org/obo/MONDO_0007909 familial multiple lipomatosis 'familial multiple lipomatosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0007906 familial partial lipodystrophy, Dunnigan type 'familial partial lipodystrophy, Dunnigan type' SubClassOf 'developmental anomaly of metabolic origin' 'familial partial lipodystrophy, Dunnigan type' SubClassOf 'progeroid syndrome' 'familial partial lipodystrophy, Dunnigan type' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0019716 overgrowth syndrome 'overgrowth syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0007740 Wagner disease 'Wagner disease' SubClassOf 'vitreoretinal degeneration' 'Wagner disease' SubClassOf 'vitreoretinal degeneration' http://purl.obolibrary.org/obo/MONDO_0020704 inherited rippling muscle disease 'inherited rippling muscle disease' SubClassOf 'genetic disorder' 'inherited rippling muscle disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://purl.obolibrary.org/obo/MONDO_0019736 dense deposit disease 'dense deposit disease' SubClassOf 'non-immunoglobulin-mediated membranoproliferative glomerulonephritis' 'dense deposit disease' SubClassOf 'primary membranoproliferative glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0007766 Morgagni-Stewart-Morel syndrome 'Morgagni-Stewart-Morel syndrome' SubClassOf 'material entity' 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 'material entity' http://purl.obolibrary.org/obo/MONDO_0019787 autoimmune enteropathy 'autoimmune enteropathy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017131 genetic cardiac anomaly 'genetic cardiac anomaly' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0029134 severe combined immunodeficiency due to CARMIL2 deficiency 'severe combined immunodeficiency due to CARMIL2 deficiency' SubClassOf 'lymphoproliferative syndrome' http://purl.obolibrary.org/obo/MONDO_0017181 hypnic headache 'hypnic headache' SubClassOf 'material entity' 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 'material entity' http://purl.obolibrary.org/obo/MONDO_0007614 congenital fibrosis of extraocular muscles 'congenital fibrosis of extraocular muscles' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007612 gingival fibromatosis-progressive deafness syndrome 'gingival fibromatosis-progressive deafness syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0007620 fish eye disease 'fish eye disease' SubClassOf 'LCAT deficiency' 'fish eye disease' SubClassOf 'LCAT deficiency' http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger spectrum disorders 'Zellweger spectrum disorders' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'Zellweger spectrum disorders' SubClassOf 'inherited kidney disorder' 'Zellweger spectrum disorders' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0019600 xeroderma pigmentosum 'xeroderma pigmentosum' SubClassOf 'progeroid syndrome' 'xeroderma pigmentosum' SubClassOf 'developmental anomaly of metabolic origin' http://www.ebi.ac.uk/efo/EFO_1001968 soft tissue sarcoma 'soft tissue sarcoma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019624 acquired angioedema 'acquired angioedema' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1001995 Sclerodermatomyositis 'Sclerodermatomyositis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://www.ebi.ac.uk/efo/EFO_1001994 Scleroderma Polymyositis Overlap Syndrome 'Scleroderma Polymyositis Overlap Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://purl.obolibrary.org/obo/MONDO_0017015 primary interstitial lung disease specific to childhood 'primary interstitial lung disease specific to childhood' SubClassOf 'interstitial lung disease specific to childhood' 'primary interstitial lung disease specific to childhood' SubClassOf 'interstitial lung disease specific to childhood' 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' 'primary interstitial lung disease specific to adulthood' SubClassOf 'interstitial lung disease specific to adulthood' http://purl.obolibrary.org/obo/MONDO_0020665 high grade malignant neoplasm 'high grade malignant neoplasm' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017026 interstitial lung disease specific to adulthood 'interstitial lung disease specific to adulthood' SubClassOf 'interstitial lung disease' 'interstitial lung disease specific to adulthood' SubClassOf 'interstitial lung disease' 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' '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' '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' 'primary interstitial lung disease in childhood and adulthood' SubClassOf 'interstitial lung disease in childhood and adulthood' http://purl.obolibrary.org/obo/MONDO_0017050 intraocular medulloepithelioma 'intraocular medulloepithelioma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017051 classic maple syrup urine disease 'classic maple syrup urine disease' SubClassOf 'maple syrup urine disease' 'classic maple syrup urine disease' SubClassOf 'maple syrup urine disease' http://purl.obolibrary.org/obo/MONDO_0017043 congenital mesoblastic nephroma 'congenital mesoblastic nephroma' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1001935 adult B acute lymphoblastic leukemia 'adult B acute lymphoblastic leukemia' SubClassOf 'adult lymphoma' 'adult B acute lymphoblastic leukemia' SubClassOf 'precursor B-cell acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/HP_0001620 High pitched voice 'High pitched voice' SubClassOf 'Phenotypic abnormality' 'High pitched voice' SubClassOf 'Neurological speech impairment' http://purl.obolibrary.org/obo/MONDO_0007522 Ehlers-Danlos syndrome, classic type 'Ehlers-Danlos syndrome, classic type' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' http://www.ebi.ac.uk/efo/EFO_0003820 bone neoplasm 'bone neoplasm' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019514 hepatic veno-occlusive disease 'hepatic veno-occlusive disease' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0003832 gallbladder disease 'gallbladder disease' SubClassOf 'genetic biliary tract disease' 'gallbladder disease' SubClassOf 'genetic disorder' 'gallbladder disease' SubClassOf 'biliary tract disease' http://www.ebi.ac.uk/efo/EFO_0003851 meningeal neoplasm 'meningeal neoplasm' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0003761 unipolar depression 'unipolar depression' SubClassOf 'mood disorder' 'unipolar depression' SubClassOf 'depressive disorder' http://purl.obolibrary.org/obo/MONDO_0020573 inherited disease susceptibility 'inherited disease susceptibility' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019599 primary lipodystrophy 'primary lipodystrophy' SubClassOf 'material entity' 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 'material entity' http://purl.obolibrary.org/obo/CL_0000501 granulosa cell 'granulosa cell' SubClassOf 'endocrine cell' 'granulosa cell' SubClassOf 'secretory cell' http://purl.obolibrary.org/obo/CL_0000556 megakaryocyte 'megakaryocyte' SubClassOf 'bone marrow cell' http://purl.obolibrary.org/obo/MONDO_0020477 progeria-associated arthropathy 'progeria-associated arthropathy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020478 Leber plus disease 'Leber plus disease' SubClassOf 'hereditary optic neuropathy' 'Leber plus disease' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'Leber plus disease' SubClassOf 'familial dilated cardiomyopathy' 'Leber plus disease' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0020493 Haddad syndrome 'Haddad syndrome' SubClassOf 'material entity' 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 'material entity' http://purl.obolibrary.org/obo/MONDO_0009928 pulmonary alveolar microlithiasis 'pulmonary alveolar microlithiasis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1001838 renal nutcracker syndrome 'renal nutcracker syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0010939 low phospholipid associated cholelithiasis 'low phospholipid associated cholelithiasis' SubClassOf 'gallbladder disease' 'low phospholipid associated cholelithiasis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700225 'low phospholipid associated cholelithiasis' SubClassOf 'genetic biliary tract disease' http://purl.obolibrary.org/obo/MONDO_0009958 adult Refsum disease 'adult Refsum disease' SubClassOf 'genetic peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0007309 Charcot-Marie-Tooth disease type 1A 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'partial duplication of the short arm of chromosome 17' 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'partial duplication of the short arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0010952 hereditary hyperferritinemia with congenital cataracts 'hereditary hyperferritinemia with congenital cataracts' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0001416 cervical adenocarcinoma 'cervical adenocarcinoma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019303 premature aging syndrome 'premature aging syndrome' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1001890 food allergy 'food allergy' SubClassOf 'allergic disease' 'food allergy' SubClassOf 'allergic disease' http://purl.obolibrary.org/obo/MONDO_0019321 atypical Werner syndrome 'atypical Werner syndrome' SubClassOf 'progeroid syndrome' 'atypical Werner syndrome' SubClassOf 'bearer_of' some 'rare' 'atypical Werner syndrome' SubClassOf 'disorder of development or morphogenesis' http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension 'pulmonary arterial hypertension' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation 'urogenital tract malformation' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019366 free sialic acid storage disease 'free sialic acid storage disease' SubClassOf 'inborn disorder of lysosomal amino acid transport' 'free sialic acid storage disease' SubClassOf 'inborn disorder of lysosomal amino acid transport' http://www.ebi.ac.uk/efo/EFO_1001806 macrophage activation syndrome 'macrophage activation syndrome' SubClassOf 'secondary hemophagocytic lymphohistiocytosis' 'macrophage activation syndrome' SubClassOf 'secondary hemophagocytic lymphohistiocytosis' http://www.ebi.ac.uk/efo/EFO_1001809 Marchiafava-Bignami Disease 'Marchiafava-Bignami Disease' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1001807 malacoplakia 'malacoplakia' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0044326 developmental delay and seizures with or without movement abnormalities 'developmental delay and seizures with or without movement abnormalities' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015650 epilepsy syndrome 'epilepsy syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015682 primary peritoneal tumor 'primary peritoneal tumor' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015681 childhood disintegrative disorder 'childhood disintegrative disorder' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 'glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'glycogen storage disease due to lactate dehydrogenase deficiency' 'glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'muscular glycogenosis' 'glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0013046 glycogen storage disease due to muscle beta-enolase deficiency 'glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'muscular glycogenosis' http://purl.obolibrary.org/obo/MONDO_0013060 autosomal recessive Parkinson disease 14 'autosomal recessive Parkinson disease 14' SubClassOf 'PLA2G6-associated neurodegeneration' 'autosomal recessive Parkinson disease 14' SubClassOf 'PLA2G6-associated neurodegeneration' http://purl.obolibrary.org/obo/MONDO_0013081 lymphoproliferative syndrome 1 'lymphoproliferative syndrome 1' SubClassOf 'autosomal recessive lymphoproliferative disease' 'lymphoproliferative syndrome 1' SubClassOf 'lymphoproliferative syndrome' 'lymphoproliferative syndrome 1' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome 'microcephaly-polymicrogyria-corpus callosum agenesis syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015564 Castleman disease 'Castleman disease' SubClassOf 'lymphoid hemopathy' 'Castleman disease' SubClassOf 'post-infectious syndrome' 'Castleman disease' SubClassOf 'human herpesvirus 8-related tumor' http://purl.obolibrary.org/obo/MONDO_0015574 chronic cutaneous lupus erythematosus 'chronic cutaneous lupus erythematosus' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015611 neutral lipid storage disease 'neutral lipid storage disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://purl.obolibrary.org/obo/MONDO_0003646 rectum neuroendocrine neoplasm 'rectum neuroendocrine neoplasm' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015629 von Willebrand disease type 2B 'von Willebrand disease type 2B' SubClassOf 'von Willebrand disease 2' 'von Willebrand disease type 2B' SubClassOf 'von Willebrand disease 2' http://purl.obolibrary.org/obo/MONDO_0015628 von Willebrand disease type 2A 'von Willebrand disease type 2A' SubClassOf 'von Willebrand disease 2' 'von Willebrand disease type 2A' SubClassOf 'von Willebrand disease 2' http://purl.obolibrary.org/obo/MONDO_0015631 von Willebrand disease type 2N 'von Willebrand disease type 2N' SubClassOf 'von Willebrand disease 2' 'von Willebrand disease type 2N' SubClassOf 'von Willebrand disease 2' http://purl.obolibrary.org/obo/MONDO_0015630 von Willebrand disease type 2M 'von Willebrand disease type 2M' SubClassOf 'von Willebrand disease 2' 'von Willebrand disease type 2M' SubClassOf 'von Willebrand disease 2' http://purl.obolibrary.org/obo/MONDO_0015635 porokeratotic eccrine ostial and dermal duct nevus 'porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015474 cryptosporidiosis 'cryptosporidiosis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0004152 chorea 'chorea' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015515 carnitine palmitoyltransferase II deficiency 'carnitine palmitoyltransferase II deficiency' SubClassOf 'muscular lipidosis' http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease 'genetic endocrine growth disease' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0004145 myopathy 'myopathy' SubClassOf 'muscle tissue disorder' 'myopathy' SubClassOf 'skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0015523 epithelioid hemangioendothelioma 'epithelioid hemangioendothelioma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015308 laminopathy type Decaudain-Vigouroux 'laminopathy type Decaudain-Vigouroux' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017966 46,XY disorder of gonadal development '46,XY disorder of gonadal development' SubClassOf 'material entity' 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 'material entity' http://purl.obolibrary.org/obo/MONDO_0017961 46,XX disorder of gonadal development '46,XX disorder of gonadal development' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017979 autoimmune lymphoproliferative syndrome 'autoimmune lymphoproliferative syndrome' SubClassOf 'neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0017975 sex chromosome disorder of sex development 'sex chromosome disorder of sex development' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease 'neuro-ophthalmological disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0003206 acquired hemangioma 'acquired hemangioma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017849 Siegler-Brewer-Carey syndrome 'Siegler-Brewer-Carey syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017853 hypersensitivity pneumonitis 'hypersensitivity pneumonitis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015215 non-syndromic diaphragmatic or abdominal wall malformation 'non-syndromic diaphragmatic or abdominal wall malformation' SubClassOf 'diaphragmatic or abdominal wall malformation' 'non-syndromic diaphragmatic or abdominal wall malformation' EquivalentTo 'diaphragmatic or abdominal wall malformation' and ('bearer_of' some 'has an isolated presentation') 'non-syndromic diaphragmatic or abdominal wall malformation' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0015216 syndromic diaphragmatic or abdominal wall malformation 'syndromic diaphragmatic or abdominal wall malformation' EquivalentTo 'diaphragmatic or abdominal wall malformation' and ('bearer_of' some 'has a syndromic presentation') 'syndromic diaphragmatic or abdominal wall malformation' SubClassOf 'diaphragmatic or abdominal wall malformation' 'syndromic diaphragmatic or abdominal wall malformation' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015221 non-syndromic respiratory or mediastinal malformation 'non-syndromic respiratory or mediastinal malformation' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015256 blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome 'blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017904 steroid dehydrogenase deficiency-dental anomalies syndrome 'steroid dehydrogenase deficiency-dental anomalies syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017919 exstrophy-epispadias complex 'exstrophy-epispadias complex' SubClassOf 'diaphragmatic or abdominal wall malformation' http://purl.obolibrary.org/obo/MONDO_0017937 autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain 'autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' 'autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0017728 Tay-Sachs disease, B1 variant 'Tay-Sachs disease, B1 variant' SubClassOf 'Tay-Sachs disease' 'Tay-Sachs disease, B1 variant' SubClassOf 'Tay-Sachs disease' http://purl.obolibrary.org/obo/MONDO_0017724 Tay-Sachs disease, b variant, infantile form 'Tay-Sachs disease, b variant, infantile form' SubClassOf 'Tay-Sachs disease' 'Tay-Sachs disease, b variant, infantile form' SubClassOf 'Tay-Sachs disease' http://purl.obolibrary.org/obo/MONDO_0017725 Tay-Sachs disease, b variant, juvenile form 'Tay-Sachs disease, b variant, juvenile form' SubClassOf 'Tay-Sachs disease' 'Tay-Sachs disease, b variant, juvenile form' SubClassOf 'Tay-Sachs disease' http://purl.obolibrary.org/obo/MONDO_0017726 Tay-Sachs disease, b variant, adult form 'Tay-Sachs disease, b variant, adult form' SubClassOf 'Tay-Sachs disease' 'Tay-Sachs disease, b variant, adult form' SubClassOf 'Tay-Sachs disease' http://purl.obolibrary.org/obo/MONDO_0017746 atypical Rett syndrome 'atypical Rett syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/HP_0008250 Infantile hypercalcemia 'Infantile hypercalcemia' SubClassOf 'Hypercalcemia' 'Infantile hypercalcemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017769 acquired immunodeficiency 'acquired immunodeficiency' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017773 hypoalphalipoproteinemia 'hypoalphalipoproteinemia' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015111 gastroesophageal disease 'gastroesophageal disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015126 polyendocrinopathy 'polyendocrinopathy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015130 acquired chronic primary adrenal insufficiency 'acquired chronic primary adrenal insufficiency' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017795 ameloblastoma 'ameloblastoma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015141 disorder of medulla oblongata 'disorder of medulla oblongata' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015145 neurovascular malformation 'neurovascular malformation' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015180 intestinal disease due to fat malabsorption 'intestinal disease due to fat malabsorption' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015179 intestinal disease due to vitamin absorption anomaly 'intestinal disease due to vitamin absorption anomaly' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015178 congenital intestinal transport defect 'congenital intestinal transport defect' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015175 autoimmune pancreatitis 'autoimmune pancreatitis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015183 short bowel syndrome 'short bowel syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015182 congenital enteropathy involving intestinal mucosa development 'congenital enteropathy involving intestinal mucosa development' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0006803 vasculitis 'vasculitis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0004259 osteonecrosis 'osteonecrosis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0004256 neuromyelitis optica 'neuromyelitis optica' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency 'lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0004268 sclerosing cholangitis 'sclerosing cholangitis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017623 PTEN hamartoma tumor syndrome 'PTEN hamartoma tumor syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017658 hyperekplexia 'hyperekplexia' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017656 motor stereotypies 'motor stereotypies' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017651 primary myoclonus 'primary myoclonus' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017574 chronic intestinal pseudoobstruction 'chronic intestinal pseudoobstruction' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017592 staphylococcal toxemia 'staphylococcal toxemia' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0011299 Huntington disease-like 1 'Huntington disease-like 1' SubClassOf 'Huntington disease and related disorders' 'Huntington disease-like 1' SubClassOf 'movement disorder' 'Huntington disease-like 1' SubClassOf 'inherited prion disease' 'Huntington disease-like 1' SubClassOf 'inherited prion disease' http://purl.obolibrary.org/obo/MONDO_0013934 combined immunodeficiency due to STK4 deficiency 'combined immunodeficiency due to STK4 deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'combined immunodeficiency due to STK4 deficiency' SubClassOf 'combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0011342 SLC35A1-congenital disorder of glycosylation 'SLC35A1-congenital disorder of glycosylation' SubClassOf 'inherited kidney disorder' 'SLC35A1-congenital disorder of glycosylation' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' http://purl.obolibrary.org/obo/MONDO_0011191 capillary infantile hemangioma 'capillary infantile hemangioma' SubClassOf 'hemangioma' 'capillary infantile hemangioma' SubClassOf 'capillary hemangioma' http://purl.obolibrary.org/obo/MONDO_0001828 acquired color blindness 'acquired color blindness' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0013813 dystonia 21 'dystonia 21' SubClassOf 'generalized isolated dystonia' 'dystonia 21' SubClassOf 'generalized dystonia' 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 'material entity' http://purl.obolibrary.org/obo/MONDO_0001878 acquired hypertrophic pyloric stenosis 'acquired hypertrophic pyloric stenosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0013869 adenine phosphoribosyltransferase deficiency 'adenine phosphoribosyltransferase deficiency' SubClassOf 'inherited kidney disorder' 'adenine phosphoribosyltransferase deficiency' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' http://purl.obolibrary.org/obo/MONDO_0011208 malignant atrophic papulosis 'malignant atrophic papulosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0013863 combined immunodeficiency due to LRBA deficiency 'combined immunodeficiency due to LRBA deficiency' SubClassOf 'autoimmune polyendocrinopathy' 'combined immunodeficiency due to LRBA deficiency' SubClassOf 'intractable diarrhea of infancy' 'combined immunodeficiency due to LRBA deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'combined immunodeficiency due to LRBA deficiency' SubClassOf 'autoimmune enteropathy' http://purl.obolibrary.org/obo/MONDO_0013881 congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome 'congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome' SubClassOf 'inherited kidney disorder' 'congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome' SubClassOf 'junctional epidermolysis bullosa' 'congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome' SubClassOf 'primary interstitial lung disease specific to childhood' 'congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome' SubClassOf 'disease of glomerular basement membrane' 'congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0011242 Bartter disease type 4a 'Bartter disease type 4a' SubClassOf 'infantile Bartter syndrome with sensorineural deafness' 'Bartter disease type 4a' SubClassOf 'infantile Bartter syndrome with sensorineural deafness' http://purl.obolibrary.org/obo/MONDO_0011264 torsion dystonia 6 'torsion dystonia 6' SubClassOf 'generalized isolated dystonia' 'torsion dystonia 6' SubClassOf 'generalized dystonia' http://purl.obolibrary.org/obo/MONDO_0011273 H syndrome 'H syndrome' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0008525 spinal muscular atrophy 'spinal muscular atrophy' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis 'tuberous sclerosis' SubClassOf 'inherited renal cancer-predisposing syndrome' 'tuberous sclerosis' SubClassOf 'inherited neurodegenerative disorder' 'tuberous sclerosis' SubClassOf 'inherited nervous system cancer-predisposing syndrome' 'tuberous sclerosis' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/OBA_2001020 age of onset of Buruli ulcer disease 'age of onset of Buruli ulcer disease' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001011 age of onset of schizophrenia 'age of onset of schizophrenia' SubClassOf 'material property' http://purl.obolibrary.org/obo/MONDO_0013730 graft versus host disease 'graft versus host disease' SubClassOf 'material entity' 'graft versus host disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700222 http://purl.obolibrary.org/obo/OBA_2001013 age of onset of type 2 diabetes mellitus 'age of onset of type 2 diabetes mellitus' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001012 age of onset of type 1 diabetes mellitus 'age of onset of type 1 diabetes mellitus' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001017 age of onset of allergic disease 'age of onset of allergic disease' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001016 age of onset of alcohol dependence 'age of onset of alcohol dependence' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001018 age of onset of amyotrophic lateral sclerosis 'age of onset of amyotrophic lateral sclerosis' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001000 age of onset of Alzheimer disease 'age of onset of Alzheimer disease' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001002 age of onset of urinary bladder carcinoma 'age of onset of urinary bladder carcinoma' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001001 age of onset of asthma 'age of onset of asthma' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001004 age of onset of cataract 'age of onset of cataract' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001008 age of onset of osteoarthritis 'age of onset of osteoarthritis' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001007 age of onset of hyperlipidemia 'age of onset of hyperlipidemia' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001009 age of onset of Parkinson disease 'age of onset of Parkinson disease' SubClassOf 'material property' http://purl.obolibrary.org/obo/MONDO_0013758 Charcot-Marie-Tooth disease dominant intermediate E 'Charcot-Marie-Tooth disease dominant intermediate E' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease dominant intermediate E' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0037747 spinal injury 'spinal injury' SubClassOf 'vertebral column disorder' http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'inherited kidney disorder' http://purl.obolibrary.org/obo/MONDO_0011146 tetrasomy 12p 'tetrasomy 12p' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' http://purl.obolibrary.org/obo/MONDO_0023149 infection due to clostridium perfringens 'infection due to clostridium perfringens' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0008518 polymyalgia rheumatica 'polymyalgia rheumatica' SubClassOf 'myopathy' 'polymyalgia rheumatica' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0011150 acroosteolysis-keloid-like lesions-premature aging syndrome 'acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'progeroid syndrome' 'acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'premature aging syndrome' http://www.ebi.ac.uk/efo/EFO_0008507 interstitial cystitis 'interstitial cystitis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0013595 hyperbiliverdinemia 'hyperbiliverdinemia' SubClassOf 'material entity' http://purl.obolibrary.org/obo/OBA_2001033 age of onset of coronary atherosclerosis 'age of onset of coronary atherosclerosis' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001032 age of onset of narcolepsy-cataplexy syndrome 'age of onset of narcolepsy-cataplexy syndrome' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001031 age of onset of refractive error 'age of onset of refractive error' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001022 age of onset of frontotemporal dementia 'age of onset of frontotemporal dementia' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001024 age of onset of Huntington disease 'age of onset of Huntington disease' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001026 age of onset of migraine disorder 'age of onset of migraine disorder' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001029 age of onset of multiple sclerosis 'age of onset of multiple sclerosis' SubClassOf 'material property' http://purl.obolibrary.org/obo/MONDO_0011007 diaphragmatic defect-limb deficiency-skull defect syndrome 'diaphragmatic defect-limb deficiency-skull defect syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' 'diaphragmatic defect-limb deficiency-skull defect syndrome' SubClassOf 'bearer_of' some 'rare' 'diaphragmatic defect-limb deficiency-skull defect syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/OBA_2050099 age of onset of anorexia nervosa 'age of onset of anorexia nervosa' SubClassOf 'material property' http://purl.obolibrary.org/obo/MONDO_0011010 Matthew-Wood syndrome 'Matthew-Wood syndrome' SubClassOf 'syndromic diaphragmatic or abdominal wall malformation' http://purl.obolibrary.org/obo/MONDO_0013577 Lipedema 'Lipedema' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome 'porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'material entity' 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 'material entity' http://purl.obolibrary.org/obo/MONDO_0001444 Chagas disease 'Chagas disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0025445 Wieacker-Wolff syndrome (spectrum) 'Wieacker-Wolff syndrome (spectrum)' SubClassOf 'skeletal muscle disorder' 'Wieacker-Wolff syndrome (spectrum)' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://purl.obolibrary.org/obo/MONDO_0013452 multisystemic smooth muscle dysfunction syndrome 'multisystemic smooth muscle dysfunction syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0013245 syndromic multisystem autoimmune disease due to ITCH deficiency 'syndromic multisystem autoimmune disease due to ITCH deficiency' SubClassOf 'intractable diarrhea of infancy' 'syndromic multisystem autoimmune disease due to ITCH deficiency' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/OBA_2040167 age of onset of cervical dystonia 'age of onset of cervical dystonia' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2040160 age of onset of Machado-Joseph disease 'age of onset of Machado-Joseph disease' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2040166 age of onset of depressive disorder 'age of onset of depressive disorder' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2040157 age of onset of glioblastoma 'age of onset of glioblastoma' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2040159 age of onset of hypertensive disorder 'age of onset of hypertensive disorder' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2040155 age of onset of stroke disorder 'age of onset of stroke disorder' SubClassOf 'material property' http://purl.obolibrary.org/obo/MONDO_0013282 alpha 1-antitrypsin deficiency 'alpha 1-antitrypsin deficiency' SubClassOf 'inherited kidney disorder' 'alpha 1-antitrypsin deficiency' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'alpha 1-antitrypsin deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013291 glycogen storage disease XV 'glycogen storage disease XV' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700223 http://purl.obolibrary.org/obo/MONDO_0015903 hyperalphalipoproteinemia 'hyperalphalipoproteinemia' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015902 major hypertriglyceridemia 'major hypertriglyceridemia' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015914 primary orthostatic hypotension 'primary orthostatic hypotension' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy 'acquired peripheral neuropathy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0001325 penile cancer 'penile cancer' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015961 genetic head and neck malformation 'genetic head and neck malformation' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015975 hyper-IgM syndrome with susceptibility to opportunistic infections 'hyper-IgM syndrome with susceptibility to opportunistic infections' SubClassOf 'non-SCID combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0001347 facioscapulohumeral muscular dystrophy 'facioscapulohumeral muscular dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015798 inflammatory myofibroblastic tumor 'inflammatory myofibroblastic tumor' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015794 antenatal multiminicore disease with arthrogryposis multiplex congenita 'antenatal multiminicore disease with arthrogryposis multiplex congenita' SubClassOf 'multiminicore myopathy' 'antenatal multiminicore disease with arthrogryposis multiplex congenita' SubClassOf 'multiminicore myopathy' http://purl.obolibrary.org/obo/MONDO_0013171 purine nucleoside phosphorylase deficiency 'purine nucleoside phosphorylase deficiency' SubClassOf 'non-SCID combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0013225 congenital generalized lipodystrophy type 4 'congenital generalized lipodystrophy type 4' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0033363 developmental and epileptic encephalopathy, 54 'developmental and epileptic encephalopathy, 54' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0011661 inflammatory bowel disease 5 'inflammatory bowel disease 5' SubClassOf 'inflammatory bowel disease' http://purl.obolibrary.org/obo/MONDO_0800167 Knobloch syndrome 1 'Knobloch syndrome 1' SubClassOf 'Knobloch syndrome' http://purl.obolibrary.org/obo/HP_0002505 Loss of ambulation 'Loss of ambulation' SubClassOf 'Inability to walk' http://purl.obolibrary.org/obo/MONDO_0008954 peroxisome biogenesis disorder 2A (Zellweger) 'peroxisome biogenesis disorder 2A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' 'peroxisome biogenesis disorder 2A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX5 defect' http://purl.obolibrary.org/obo/MONDO_0008953 peroxisome biogenesis disorder 1A (Zellweger) 'peroxisome biogenesis disorder 1A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' 'peroxisome biogenesis disorder 1A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX1 defect' http://purl.obolibrary.org/obo/MONDO_0031213 restrictive dermopathy 'restrictive dermopathy' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0700015 PacBio Sequel II system 'PacBio Sequel II system' SubClassOf 'high throughput sequencer' http://purl.obolibrary.org/obo/MONDO_0033643 inflammatory bowel disease 30 'inflammatory bowel disease 30' SubClassOf 'inflammatory bowel disease' http://purl.obolibrary.org/obo/MONDO_0014343 Desbuquois dysplasia 2 'Desbuquois dysplasia 2' SubClassOf 'Desbuquois dysplasia' 'Desbuquois dysplasia 2' SubClassOf 'primary bone dysplasia with multiple joint dislocations' http://purl.obolibrary.org/obo/MONDO_0014367 Aicardi-Goutieres syndrome 7 'Aicardi-Goutieres syndrome 7' SubClassOf 'Aicardi-Goutieres syndrome' http://purl.obolibrary.org/obo/MONDO_0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 'megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2' SubClassOf 'megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' http://purl.obolibrary.org/obo/MONDO_0100517 PSAP-related sphingolipidosis 'PSAP-related sphingolipidosis' SubClassOf 'sphingolipidosis' http://www.ebi.ac.uk/efo/EFO_0020900 thigh muscle fat infiltration measurement 'thigh muscle fat infiltration measurement' SubClassOf 'thigh muscle measurement' http://www.ebi.ac.uk/efo/EFO_0020934 posterior thigh muscle fat infiltration measurement 'posterior thigh muscle fat infiltration measurement' SubClassOf 'thigh muscle fat infiltration measurement' http://www.ebi.ac.uk/efo/EFO_0020935 anterior thigh muscle volume 'anterior thigh muscle volume' SubClassOf 'thigh muscle volume' http://www.ebi.ac.uk/efo/EFO_0020936 anterior thigh muscle fat infiltration measurement 'anterior thigh muscle fat infiltration measurement' SubClassOf 'thigh muscle fat infiltration measurement' http://www.ebi.ac.uk/efo/EFO_0020931 posterior thigh muscle volume 'posterior thigh muscle volume' SubClassOf 'thigh muscle volume' http://purl.obolibrary.org/obo/MONDO_0100356 classic presentation 'classic presentation' SubClassOf 'classic or non-classic genetic disease presentation' http://purl.obolibrary.org/obo/MONDO_0100298 abdominal wall malformation 'abdominal wall malformation' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0100270 peroxisome biogenesis disorder due to PEX19 defect 'peroxisome biogenesis disorder due to PEX19 defect' SubClassOf 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0100271 peroxisome biogenesis disorder due to PEX26 defect 'peroxisome biogenesis disorder due to PEX26 defect' SubClassOf 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0100260 peroxisome biogenesis disorder due to PEX2 defect 'peroxisome biogenesis disorder due to PEX2 defect' SubClassOf 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0100261 peroxisome biogenesis disorder due to PEX3 defect 'peroxisome biogenesis disorder due to PEX3 defect' SubClassOf 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0100262 peroxisome biogenesis disorder due to PEX5 defect 'peroxisome biogenesis disorder due to PEX5 defect' SubClassOf 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0100269 peroxisome biogenesis disorder due to PEX16 defect 'peroxisome biogenesis disorder due to PEX16 defect' SubClassOf 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0100300 hereditary capillary infantile hemangioma 'hereditary capillary infantile hemangioma' SubClassOf 'capillary infantile hemangioma' 'hereditary capillary infantile hemangioma' SubClassOf 'genetic vascular anomaly' 'hereditary capillary infantile hemangioma' EquivalentTo 'capillary infantile hemangioma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0100167 pulmonary disease, chronic obstructive, susceptibility to 'pulmonary disease, chronic obstructive, susceptibility to' SubClassOf 'predisposes towards' some 'chronic obstructive pulmonary disease' 'pulmonary disease, chronic obstructive, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0100200 microcephaly with intellectual disability 'microcephaly with intellectual disability' SubClassOf 'microcephaly' http://purl.obolibrary.org/obo/HP_0010705 4-5 finger syndactyly '4-5 finger syndactyly' SubClassOf 'Finger syndactyly' http://www.ebi.ac.uk/efo/EFO_0020078 dietary vitamin B1 intake measurement 'dietary vitamin B1 intake measurement' SubClassOf 'diet measurement' http://www.ebi.ac.uk/efo/EFO_0020079 dietary vitamin B2 intake measurement 'dietary vitamin B2 intake measurement' SubClassOf 'diet measurement' http://www.ebi.ac.uk/efo/EFO_0020074 urine protein measurement 'urine protein measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0020075 urine glucose measurement 'urine glucose measurement' SubClassOf 'glucose measurement' http://www.ebi.ac.uk/efo/EFO_0020076 urine blood measurement 'urine blood measurement' SubClassOf 'measurement' http://www.ebi.ac.uk/efo/EFO_0020077 dietary vitamin A intake measurement 'dietary vitamin A intake measurement' SubClassOf 'diet measurement' http://www.ebi.ac.uk/efo/EFO_0020073 high-level copy number loss 'high-level copy number loss' SubClassOf 'copy number loss' http://purl.obolibrary.org/obo/MONDO_0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1' SubClassOf 'autosomal dominant progressive external ophthalmoplegia' http://www.ebi.ac.uk/efo/EFO_0020107 thigh muscle volume 'thigh muscle volume' SubClassOf 'thigh muscle measurement' http://www.ebi.ac.uk/efo/EFO_0020100 thigh muscle measurement 'thigh muscle measurement' SubClassOf 'muscle measurement' http://www.ebi.ac.uk/efo/EFO_0020096 mitral valve annular diameter 'mitral valve annular diameter' SubClassOf 'cardiovascular measurement' http://www.ebi.ac.uk/efo/EFO_0020097 QRS-T angle 'QRS-T angle' SubClassOf 'electrocardiography' http://www.ebi.ac.uk/efo/EFO_0020098 abdominal fat ratio 'abdominal fat ratio' SubClassOf 'body ratio measurement' http://www.ebi.ac.uk/efo/EFO_0020099 weight-to-muscle ratio 'weight-to-muscle ratio' SubClassOf 'body ratio measurement' http://www.ebi.ac.uk/efo/EFO_0020092 neuroinflammatory disorder 'neuroinflammatory disorder' SubClassOf 'autoimmune disorder of the nervous system' 'neuroinflammatory disorder' SubClassOf 'central nervous system disease' http://www.ebi.ac.uk/efo/EFO_0020093 C57BL/6NTac 'C57BL/6NTac' SubClassOf 'C57BL' http://www.ebi.ac.uk/efo/EFO_0020094 Lambert-Eaton myasthenic syndrome 'Lambert-Eaton myasthenic syndrome' SubClassOf 'immune-mediated acquired neuromuscular junction disease' 'Lambert-Eaton myasthenic syndrome' SubClassOf 'paraneoplastic neurologic syndrome' http://www.ebi.ac.uk/efo/EFO_0020095 trochanter bone mineral density 'trochanter bone mineral density' SubClassOf 'hip bone mineral density' http://www.ebi.ac.uk/efo/EFO_0020090 dietary cholesterol intake measurement 'dietary cholesterol intake measurement' SubClassOf 'diet measurement' http://www.ebi.ac.uk/efo/EFO_0020091 dietary phosphorus intake measurement 'dietary phosphorus intake measurement' SubClassOf 'diet measurement' http://www.ebi.ac.uk/efo/EFO_0020089 dietary vitamin E intake measurement 'dietary vitamin E intake measurement' SubClassOf 'diet measurement' http://www.ebi.ac.uk/efo/EFO_0020085 dietary retinol intake measurement 'dietary retinol intake measurement' SubClassOf 'diet measurement' http://www.ebi.ac.uk/efo/EFO_0020086 dietary carotene intake measurement 'dietary carotene intake measurement' SubClassOf 'diet measurement' http://www.ebi.ac.uk/efo/EFO_0020087 dietary ash intake measurement 'dietary ash intake measurement' SubClassOf 'diet measurement' http://www.ebi.ac.uk/efo/EFO_0020088 dietary fiber intake measurement 'dietary fiber intake measurement' SubClassOf 'diet measurement' http://www.ebi.ac.uk/efo/EFO_0020081 dietary niacin intake measurement 'dietary niacin intake measurement' SubClassOf 'diet measurement' http://www.ebi.ac.uk/efo/EFO_0020082 dietary vitamin C intake measurement 'dietary vitamin C intake measurement' SubClassOf 'diet measurement' http://www.ebi.ac.uk/efo/EFO_0020083 dietary zinc intake measurement 'dietary zinc intake measurement' SubClassOf 'diet measurement' http://www.ebi.ac.uk/efo/EFO_0020084 dietary vitamin B6 intake measurement 'dietary vitamin B6 intake measurement' SubClassOf 'diet measurement' http://www.ebi.ac.uk/efo/EFO_0020080 dietary sodium intake measurement 'dietary sodium intake measurement' SubClassOf 'diet measurement' http://purl.obolibrary.org/obo/MONDO_0700223 hereditary skeletal muscle disorder 'hereditary skeletal muscle disorder' SubClassOf 'genetic disorder' 'hereditary skeletal muscle disorder' EquivalentTo 'skeletal muscle disorder' and ('bearer_of' some 'inherited') 'hereditary skeletal muscle disorder' SubClassOf 'skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0700222 disease related to hematopoietic stem cell transplant 'disease related to hematopoietic stem cell transplant' SubClassOf 'disease related to transplantation' http://purl.obolibrary.org/obo/MONDO_0700225 hereditary gallbladder disorder 'hereditary gallbladder disorder' EquivalentTo 'gallbladder disease' and ('bearer_of' some 'inherited') 'hereditary gallbladder disorder' SubClassOf 'gallbladder disease' 'hereditary gallbladder disorder' SubClassOf 'genetic biliary tract disease' http://purl.obolibrary.org/obo/MONDO_0700220 disease related to transplantation 'disease related to transplantation' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0850093 absence epilepsy 'absence epilepsy' SubClassOf 'electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0012919 type 1 diabetes mellitus 20 'type 1 diabetes mellitus 20' SubClassOf 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' http://purl.obolibrary.org/obo/MONDO_0010393 intellectual disability, X-linked 93 'intellectual disability, X-linked 93' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0030434 epilepsy, idiopathic generalized, susceptibility to, 18 'epilepsy, idiopathic generalized, susceptibility to, 18' SubClassOf 'inherited disease susceptibility' 'epilepsy, idiopathic generalized, susceptibility to, 18' SubClassOf 'predisposes towards' some 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0030472 developmental and epileptic encephalopathy 98 'developmental and epileptic encephalopathy 98' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0042490 neutropenia, severe congenital, 1, autosomal dominant 'neutropenia, severe congenital, 1, autosomal dominant' SubClassOf 'autosomal dominant severe congenital neutropenia' http://purl.obolibrary.org/obo/HP_0025200 Muscle fiber actin filament accumulation 'Muscle fiber actin filament accumulation' SubClassOf 'Abnormal skeletal muscle morphology' http://purl.obolibrary.org/obo/HP_0001233 2-3 finger syndactyly '2-3 finger syndactyly' SubClassOf 'Finger syndactyly' http://purl.obolibrary.org/obo/MONDO_0030362 Aicardi-Goutieres syndrome 9 'Aicardi-Goutieres syndrome 9' SubClassOf 'Aicardi-Goutieres syndrome' http://purl.obolibrary.org/obo/MONDO_0030361 Aicardi-Goutieres syndrome 8 'Aicardi-Goutieres syndrome 8' SubClassOf 'Aicardi-Goutieres syndrome' http://purl.obolibrary.org/obo/MONDO_0032728 Charcot-Marie-Tooth disease, axonal, type 2EE 'Charcot-Marie-Tooth disease, axonal, type 2EE' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0013034 keratosis palmoplantaris striata 2 'keratosis palmoplantaris striata 2' SubClassOf 'striate palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0030867 thrombocytopenia 7 'thrombocytopenia 7' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0030756 Stuve-Wiedemann syndrome 2 'Stuve-Wiedemann syndrome 2' SubClassOf 'Stuve-Wiedemann syndrome' http://purl.obolibrary.org/obo/MONDO_0030781 restrictive dermopathy 2 'restrictive dermopathy 2' SubClassOf 'restrictive dermopathy' http://purl.obolibrary.org/obo/MONDO_0013927 peroxisome biogenesis disorder 3A (Zellweger) 'peroxisome biogenesis disorder 3A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' 'peroxisome biogenesis disorder 3A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX12 defect' http://purl.obolibrary.org/obo/MONDO_0013936 peroxisome biogenesis disorder 6A (Zellweger) 'peroxisome biogenesis disorder 6A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' 'peroxisome biogenesis disorder 6A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX10 defect' http://purl.obolibrary.org/obo/MONDO_0013938 peroxisome biogenesis disorder 7A (Zellweger) 'peroxisome biogenesis disorder 7A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX26 defect' 'peroxisome biogenesis disorder 7A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' http://purl.obolibrary.org/obo/MONDO_0013932 peroxisome biogenesis disorder 5A (Zellweger) 'peroxisome biogenesis disorder 5A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' 'peroxisome biogenesis disorder 5A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX2 defect' http://purl.obolibrary.org/obo/MONDO_0013930 peroxisome biogenesis disorder 4A (Zellweger) 'peroxisome biogenesis disorder 4A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' 'peroxisome biogenesis disorder 4A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX6 defect' http://purl.obolibrary.org/obo/MONDO_0013948 peroxisome biogenesis disorder 10A (Zellweger) 'peroxisome biogenesis disorder 10A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX3 defect' 'peroxisome biogenesis disorder 10A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' http://purl.obolibrary.org/obo/MONDO_0013949 peroxisome biogenesis disorder 11A (Zellweger) 'peroxisome biogenesis disorder 11A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX13 defect' 'peroxisome biogenesis disorder 11A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' http://purl.obolibrary.org/obo/MONDO_0013942 peroxisome biogenesis disorder 8A (Zellweger) 'peroxisome biogenesis disorder 8A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX16 defect' 'peroxisome biogenesis disorder 8A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' http://purl.obolibrary.org/obo/MONDO_0013951 peroxisome biogenesis disorder 12A (Zellweger) 'peroxisome biogenesis disorder 12A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX19 defect' 'peroxisome biogenesis disorder 12A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' http://purl.obolibrary.org/obo/MONDO_0013952 peroxisome biogenesis disorder 13A (Zellweger) 'peroxisome biogenesis disorder 13A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX14 defect' 'peroxisome biogenesis disorder 13A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' http://purl.obolibrary.org/obo/MONDO_0013805 intellectual disability, autosomal dominant 13 'intellectual disability, autosomal dominant 13' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0025708 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 'megacystis-microcolon-intestinal hypoperistalsis syndrome 2' SubClassOf 'megacystis-microcolon-intestinal hypoperistalsis syndrome' http://purl.obolibrary.org/obo/MONDO_0859390 epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features 'epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0859383 ichthyosis hystrix 'ichthyosis hystrix' SubClassOf 'inherited ichthyosis' http://purl.obolibrary.org/obo/MONDO_0013633 encephalopathy, acute, infection-induced, susceptibility to, 4 'encephalopathy, acute, infection-induced, susceptibility to, 4' SubClassOf 'encephalitis, acute, infection-induced, susceptibility to' http://purl.obolibrary.org/obo/MONDO_0013476 hypertrophic cardiomyopathy 19 'hypertrophic cardiomyopathy 19' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013195 hypertrophic cardiomyopathy 13 'hypertrophic cardiomyopathy 13' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0021257 glomus jugulare neoplasm 'glomus jugulare neoplasm' SubClassOf 'neoplasm of neck' 'glomus jugulare neoplasm' SubClassOf 'vein disorder' 'glomus jugulare neoplasm' SubClassOf 'blood vessel neoplasm' http://purl.obolibrary.org/obo/MONDO_0016123 muscular tumor 'muscular tumor' SubClassOf 'skeletal muscle neoplasm' http://purl.obolibrary.org/obo/MONDO_0000568 autoimmune disorder of central nervous system 'autoimmune disorder of central nervous system' SubClassOf 'central nervous system disease' 'autoimmune disorder of central nervous system' SubClassOf 'autoimmune disorder of the nervous system' http://purl.obolibrary.org/obo/MONDO_0002847 skeletal muscle cancer 'skeletal muscle cancer' SubClassOf 'skeletal muscle neoplasm' 'skeletal muscle cancer' SubClassOf 'muscle cancer' http://purl.obolibrary.org/obo/MONDO_0002848 skeletal muscle neoplasm 'skeletal muscle neoplasm' SubClassOf 'neoplasm' 'skeletal muscle neoplasm' SubClassOf 'skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation 'diaphragmatic or abdominal wall malformation' SubClassOf 'material entity' 'diaphragmatic or abdominal wall malformation' SubClassOf 'bearer_of' some 'rare' 'diaphragmatic or abdominal wall malformation' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0020083 immunodeficiency-associated lymphoproliferative disease 'immunodeficiency-associated lymphoproliferative disease' SubClassOf 'lymphoid hemopathy' http://purl.obolibrary.org/obo/MONDO_0015215 non-syndromic diaphragmatic or abdominal wall malformation 'non-syndromic diaphragmatic or abdominal wall malformation' SubClassOf 'diaphragmatic or abdominal wall malformation' 'non-syndromic diaphragmatic or abdominal wall malformation' EquivalentTo 'diaphragmatic or abdominal wall malformation' and ('bearer_of' some 'has an isolated presentation') 'non-syndromic diaphragmatic or abdominal wall malformation' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0015216 syndromic diaphragmatic or abdominal wall malformation 'syndromic diaphragmatic or abdominal wall malformation' EquivalentTo 'diaphragmatic or abdominal wall malformation' and ('bearer_of' some 'has a syndromic presentation') 'syndromic diaphragmatic or abdominal wall malformation' SubClassOf 'diaphragmatic or abdominal wall malformation' 'syndromic diaphragmatic or abdominal wall malformation' SubClassOf 'syndromic disease'