845 670 29 http://www.ebi.ac.uk/efo/EFO_1000224 Duodenal Gastrin-Producing Neuroendocrine Tumor 'Duodenal Gastrin-Producing Neuroendocrine Tumor' SubClassOf 'has_disease_location' some ('duodenum' or ('part of' some 'duodenum')) 'Duodenal Gastrin-Producing Neuroendocrine Tumor' SubClassOf 'gastrointestinal disease' 'Duodenal Gastrin-Producing Neuroendocrine Tumor' SubClassOf 'endocrine neoplasm' 'Duodenal Gastrin-Producing Neuroendocrine Tumor' SubClassOf 'digestive system neoplasm' 'Duodenal Gastrin-Producing Neuroendocrine Tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000437 embryonal rhabdomyosarcoma 'embryonal rhabdomyosarcoma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0004322 Short stature 'Short stature' SubClassOf http://purl.obolibrary.org/obo/HP_0000002 http://purl.obolibrary.org/obo/MONDO_0800064 osteogenesis imperfecta and a reduction of bone mineral density. 'osteogenesis imperfecta and a reduction of bone mineral density.' SubClassOf 'skeletal dysplasia' http://www.ebi.ac.uk/efo/EFO_1000398 Non-Functional Pancreatic Neuroendocrine Tumor 'Non-Functional Pancreatic Neuroendocrine Tumor' SubClassOf 'endocrine neoplasm' 'Non-Functional Pancreatic Neuroendocrine Tumor' SubClassOf 'has_disease_location' some ('pancreas' or ('part of' some 'pancreas')) 'Non-Functional Pancreatic Neuroendocrine Tumor' SubClassOf 'pancreatic neoplasm' 'Non-Functional Pancreatic Neuroendocrine Tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0800030 gastrointestinal defects and immunodeficiency syndrome 1 'gastrointestinal defects and immunodeficiency syndrome 1' SubClassOf 'syndromic disease' 'gastrointestinal defects and immunodeficiency syndrome 1' SubClassOf 'gastrointestinal defect and immunodeficiency syndrome' http://purl.obolibrary.org/obo/MONDO_0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 'leukoencephalopathy, diffuse hereditary, with spheroids 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100632 http://www.ebi.ac.uk/efo/EFO_1000306 Intraductal Breast Papilloma 'Intraductal Breast Papilloma' SubClassOf 'has_disease_location' some ('breast' or ('part of' some 'breast')) 'Intraductal Breast Papilloma' SubClassOf 'breast neoplasm' 'Intraductal Breast Papilloma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000312 Kidney Angiomyolipoma 'Kidney Angiomyolipoma' SubClassOf 'kidney neoplasm' 'Kidney Angiomyolipoma' SubClassOf 'has_disease_location' some ('kidney' or ('part of' some 'kidney')) 'Kidney Angiomyolipoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000315 Kidney Oncocytoma 'Kidney Oncocytoma' SubClassOf 'has_disease_location' some ('kidney' or ('part of' some 'kidney')) 'Kidney Oncocytoma' SubClassOf 'kidney neoplasm' 'Kidney Oncocytoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000324 Liver Inflammatory Myofibroblastic Tumor 'Liver Inflammatory Myofibroblastic Tumor' SubClassOf 'liver neoplasm' 'Liver Inflammatory Myofibroblastic Tumor' SubClassOf 'has_disease_location' some ('liver' or ('part of' some 'liver')) 'Liver Inflammatory Myofibroblastic Tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000322 Liver Cavernous Hemangioma 'Liver Cavernous Hemangioma' SubClassOf 'has_disease_location' some ('liver' or ('part of' some 'liver')) 'Liver Cavernous Hemangioma' SubClassOf 'liver neoplasm' 'Liver Cavernous Hemangioma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000014 acidosis 'acidosis' SubClassOf 'has_disease_location' some 'blood' 'acidosis' SubClassOf 'blood disease' http://www.ebi.ac.uk/efo/EFO_0000678 pterygium 'pterygium' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100581 http://purl.obolibrary.org/obo/MONDO_0971174 multiple mitochondrial dysfunctions syndrome 9b 'multiple mitochondrial dysfunctions syndrome 9b' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060116 http://www.ebi.ac.uk/efo/EFO_0009026 Bardet-Biedl syndrome 7 'Bardet-Biedl syndrome 7' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040042 'Bardet-Biedl syndrome 7' SubClassOf 'Bardet-Biedl syndrome' http://www.ebi.ac.uk/efo/EFO_0009027 Bardet-Biedl syndrome 9 'Bardet-Biedl syndrome 9' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 9' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700236 http://www.ebi.ac.uk/efo/EFO_0009022 Bardet-Biedl syndrome 10 'Bardet-Biedl syndrome 10' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 10' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700237 http://www.ebi.ac.uk/efo/EFO_0009023 Bardet-Biedl syndrome 12 'Bardet-Biedl syndrome 12' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 12' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040045 'Bardet-Biedl syndrome 12' SubClassOf 'Bardet-Biedl syndrome' http://purl.obolibrary.org/obo/MONDO_0011934 dermatofibrosarcoma protuberans 'dermatofibrosarcoma protuberans' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0011936 microphthalmia with brain and digit anomalies 'microphthalmia with brain and digit anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100613 http://purl.obolibrary.org/obo/HP_0004602 Cervical C2/C3 vertebral fusion 'Cervical C2/C3 vertebral fusion' SubClassOf 'Abnormal vertebral morphology' 'Cervical C2/C3 vertebral fusion' SubClassOf http://purl.obolibrary.org/obo/HP_0002948 http://www.ebi.ac.uk/efo/EFO_0009012 Polyarteritis Nodosa 'Polyarteritis Nodosa' SubClassOf 'Arteritis' 'Polyarteritis Nodosa' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009021 Bardet-Biedl syndrome 1 'Bardet-Biedl syndrome 1' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 1' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040043 http://www.ebi.ac.uk/efo/EFO_0009049 Juvenile nephropathic cystinosis 'Juvenile nephropathic cystinosis' SubClassOf 'Unclassified primitive or secondary maculopathy' 'Juvenile nephropathic cystinosis' SubClassOf 'Metabolic disease with pigmentary retinitis' 'Juvenile nephropathic cystinosis' SubClassOf 'Metabolic disease with corneal opacity' 'Juvenile nephropathic cystinosis' SubClassOf 'Rare genetic renal disease' 'Juvenile nephropathic cystinosis' SubClassOf 'Disorder of lysosomal amino acid transport' 'Juvenile nephropathic cystinosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0004619 Lumbar kyphoscoliosis 'Lumbar kyphoscoliosis' SubClassOf 'Thoracolumbar scoliosis' 'Lumbar kyphoscoliosis' SubClassOf http://purl.obolibrary.org/obo/HP_0004626 http://www.ebi.ac.uk/efo/EFO_0009035 Combined oxidative phosphorylation defect type 25 'Combined oxidative phosphorylation defect type 25' SubClassOf 'Mitochondrial disorder due to a defect in mitochondrial protein synthesis' 'Combined oxidative phosphorylation defect type 25' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0009041 Cushing syndrome due to macronodular adrenal hyperplasia 'Cushing syndrome due to macronodular adrenal hyperplasia' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_263410 Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease 'Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease' SubClassOf 'vitamin metabolic disorder' http://www.ebi.ac.uk/efo/EFO_1000115 Benign Ovarian Mucinous Tumor 'Benign Ovarian Mucinous Tumor' SubClassOf 'ovarian neoplasm' 'Benign Ovarian Mucinous Tumor' SubClassOf 'has_disease_location' some ('ovary' or ('part of' some 'ovary')) 'Benign Ovarian Mucinous Tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000132 Bone Epithelioid Hemangioma 'Bone Epithelioid Hemangioma' SubClassOf 'bone neoplasm' 'Bone Epithelioid Hemangioma' SubClassOf 'has_disease_location' some ('bone element' or ('part of' some 'bone element')) 'Bone Epithelioid Hemangioma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000177 Choroid Plexus Papilloma 'Choroid Plexus Papilloma' SubClassOf 'has_disease_location' some ('brain' or ('part of' some 'brain')) 'Choroid Plexus Papilloma' SubClassOf 'brain neoplasm' 'Choroid Plexus Papilloma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011843 hypertrophic cardiomyopathy 25 'hypertrophic cardiomyopathy 25' SubClassOf 'qualitative or quantitative defects of telethonin' 'hypertrophic cardiomyopathy 25' SubClassOf 'qualitative or quantitative defects of telethonin' http://purl.obolibrary.org/obo/MONDO_0011841 biotin-responsive basal ganglia disease 'biotin-responsive basal ganglia disease' SubClassOf 'brain injury' 'biotin-responsive basal ganglia disease' SubClassOf 'toxic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0011840 dilated cardiomyopathy 1M 'dilated cardiomyopathy 1M' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1M' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0011879 neuronopathy, distal hereditary motor, type 7B 'neuronopathy, distal hereditary motor, type 7B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100624 http://purl.obolibrary.org/obo/MONDO_0011702 dilated cardiomyopathy 1L 'dilated cardiomyopathy 1L' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1L' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0800328 retinitis pigmentosa 94, variable age at onset 'retinitis pigmentosa 94, variable age at onset' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040070 http://www.ebi.ac.uk/efo/EFO_0009295 polyarteritis nodosa, childhoood-onset 'polyarteritis nodosa, childhoood-onset' SubClassOf 'Polyarteritis Nodosa' 'polyarteritis nodosa, childhoood-onset' SubClassOf 'polyarteritis nodosa' http://www.ebi.ac.uk/efo/EFO_0010269 amenorrhea 'amenorrhea' SubClassOf 'Menstrual disorder' 'amenorrhea' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0060707 Ververi-Brady syndrome 'Ververi-Brady syndrome' SubClassOf 'hereditary neurological disease' 'Ververi-Brady syndrome' SubClassOf 'syndromic intellectual disability' 'Ververi-Brady syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0021126 syndromic or isolated 'syndromic or isolated' DisjointUnionOf 'has a syndromic presentation', 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0021139 congenital or acquired 'congenital or acquired' DisjointUnionOf 'congenital', 'acquired' http://purl.obolibrary.org/obo/MONDO_0060760 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 'intellectual developmental disorder with dysmorphic facies and behavioral abnormalities' SubClassOf 'syndromic intellectual disability' 'intellectual developmental disorder with dysmorphic facies and behavioral abnormalities' SubClassOf 'hereditary neurological disease' 'intellectual developmental disorder with dysmorphic facies and behavioral abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 'intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities' SubClassOf 'syndromic intellectual disability' 'intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities' SubClassOf 'hereditary neurological disease' 'intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0060582 auditory neuropathy-optic atrophy syndrome 'auditory neuropathy-optic atrophy syndrome' SubClassOf 'mitochondrial disease' 'auditory neuropathy-optic atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060116 http://www.ebi.ac.uk/efo/EFO_0000773 temporal lobe epilepsy 'temporal lobe epilepsy' SubClassOf 'adolescent/adult-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0800453 juvenile absence epilepsy 'juvenile absence epilepsy' SubClassOf 'absence epilepsy' 'juvenile absence epilepsy' SubClassOf 'adolescent/adult-onset epilepsy syndrome' 'juvenile absence epilepsy' SubClassOf 'generalised epilepsy' 'juvenile absence epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800487 http://purl.obolibrary.org/obo/MONDO_0011604 spondylo-ocular syndrome 'spondylo-ocular syndrome' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0800461 COL4A1-related disorder 'COL4A1-related disorder' SubClassOf 'genetic disorder' 'COL4A1-related disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_1010150 http://www.ebi.ac.uk/efo/EFO_0010072 toothache 'toothache' SubClassOf 'pain' 'toothache' SubClassOf 'Pain' http://purl.obolibrary.org/obo/MONDO_0045034 infectious disease characteristic 'infectious disease characteristic' DisjointUnionOf http://purl.obolibrary.org/obo/HP_0031690, 'primary infectious' http://purl.obolibrary.org/obo/MONDO_0045040 locational disease characteristic 'locational disease characteristic' DisjointUnionOf 'disseminated', 'restricted to specific location' http://purl.obolibrary.org/obo/MONDO_0021056 familial adenomatous polyposis 1 'familial adenomatous polyposis 1' SubClassOf 'classic familial adenomatous polyposis' 'familial adenomatous polyposis 1' SubClassOf 'attenuated familial adenomatous polyposis' 'familial adenomatous polyposis 1' SubClassOf 'classic or attenuated familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0060650 Leber congenital amaurosis with early-onset deafness 'Leber congenital amaurosis with early-onset deafness' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060115 'Leber congenital amaurosis with early-onset deafness' SubClassOf 'retinal ciliopathy' http://purl.obolibrary.org/obo/GO_0009235 cobalamin metabolic process 'cobalamin metabolic process' SubClassOf 'vitamin metabolic process' 'cobalamin metabolic process' SubClassOf 'metabolic process' http://www.ebi.ac.uk/efo/EFO_0009447 hypoxemia 'hypoxemia' SubClassOf 'hypoxia' 'hypoxemia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011506 familial infantile myoclonic epilepsy 'familial infantile myoclonic epilepsy' SubClassOf 'early myoclonic encephalopathy' 'familial infantile myoclonic epilepsy' SubClassOf 'myoclonic epilepsy' http://www.orpha.net/ORDO/Orphanet_1168 Ataxia - oculomotor apraxia type 1 'Ataxia - oculomotor apraxia type 1' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0011510 Bohring-Opitz syndrome 'Bohring-Opitz syndrome' SubClassOf 'syndromic intellectual disability' 'Bohring-Opitz syndrome' SubClassOf 'hereditary neurological disease' 'Bohring-Opitz syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0011530 mesomelic dysplasia, Savarirayan type 'mesomelic dysplasia, Savarirayan type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/GO_0009201 ribonucleoside triphosphate biosynthetic process 'ribonucleoside triphosphate biosynthetic process' SubClassOf 'ribonucleoside triphosphate metabolic process' http://purl.obolibrary.org/obo/GO_0009205 purine ribonucleoside triphosphate metabolic process 'purine ribonucleoside triphosphate metabolic process' SubClassOf 'ribonucleoside triphosphate metabolic process' http://www.ebi.ac.uk/efo/EFO_0009300 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 'neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant' SubClassOf 'autosomal dominant disease' 'neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant' SubClassOf 'Mendelian neurodevelopmental disorder' 'neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060123 'neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/GO_0009156 ribonucleoside monophosphate biosynthetic process 'ribonucleoside monophosphate biosynthetic process' SubClassOf 'ribonucleoside monophosphate metabolic process' http://purl.obolibrary.org/obo/GO_0009161 ribonucleoside monophosphate metabolic process 'ribonucleoside monophosphate metabolic process' SubClassOf 'nucleoside monophosphate metabolic process' 'ribonucleoside monophosphate metabolic process' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/GO_0009167 purine ribonucleoside monophosphate metabolic process 'purine ribonucleoside monophosphate metabolic process' SubClassOf 'ribonucleoside monophosphate metabolic process' http://purl.obolibrary.org/obo/GO_0009199 ribonucleoside triphosphate metabolic process 'ribonucleoside triphosphate metabolic process' SubClassOf 'nucleoside triphosphate metabolic process' 'ribonucleoside triphosphate metabolic process' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011408 hereditary spastic paraplegia 10 'hereditary spastic paraplegia 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100629 http://purl.obolibrary.org/obo/MONDO_0011400 dilated cardiomyopathy 1G 'dilated cardiomyopathy 1G' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1G' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0011426 aceruloplasminemia 'aceruloplasminemia' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0011450 breast-ovarian cancer, familial, susceptibility to, 1 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf 'predisposes towards' some 'hereditary breast ovarian cancer syndrome' 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf 'autosomal dominant disease' 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf 'hereditary breast ovarian cancer syndrome' http://purl.obolibrary.org/obo/MONDO_0011482 dilated cardiomyopathy 1I 'dilated cardiomyopathy 1I' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1I' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis 'mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'spondyloepiphyseal dysplasia' 'mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100602 http://purl.obolibrary.org/obo/HP_0000027 Azoospermia 'Azoospermia' SubClassOf 'Abnormality of the genital system' 'Azoospermia' SubClassOf http://purl.obolibrary.org/obo/HP_0008669 http://purl.obolibrary.org/obo/MONDO_0016175 cutis laxa 'cutis laxa' SubClassOf 'congenital entropion' http://www.ebi.ac.uk/efo/EFO_0004761 uric acid measurement 'uric acid measurement' SubClassOf 'is_about' some 'insulin resistance' 'uric acid measurement' SubClassOf 'is_about' some 'Insulin resistance' http://www.ebi.ac.uk/efo/EFO_0004799 cholelithiasis 'cholelithiasis' SubClassOf 'bladder disease' 'cholelithiasis' SubClassOf 'hereditary gallbladder disorder' 'cholelithiasis' SubClassOf 'bladder disease' 'cholelithiasis' SubClassOf 'biliary tract disease' 'cholelithiasis' SubClassOf 'gallbladder disease' 'cholelithiasis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016006 Cockayne syndrome 'Cockayne syndrome' SubClassOf 'autosomal recessive disease' 'Cockayne syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0016027 benign neonatal seizures 'benign neonatal seizures' SubClassOf 'neonatal period electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0016022 early myoclonic encephalopathy 'early myoclonic encephalopathy' SubClassOf 'neonatal/infantile epilepsy syndrome' 'early myoclonic encephalopathy' SubClassOf 'neonatal period electroclinical syndrome' 'early myoclonic encephalopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016025 myoclonic-astatic epilepsy 'myoclonic-astatic epilepsy' SubClassOf 'childhood-onset epilepsy syndrome' 'myoclonic-astatic epilepsy' SubClassOf 'syndromic disease' 'myoclonic-astatic epilepsy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016068 fibrochondrogenesis 'fibrochondrogenesis' SubClassOf 'skeletal dysplasia' http://www.orpha.net/ORDO/Orphanet_96 Ataxia with vitamin E deficiency 'Ataxia with vitamin E deficiency' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/HP_0000218 High palate 'High palate' SubClassOf 'Abnormality of the mouth' 'High palate' SubClassOf http://purl.obolibrary.org/obo/HP_0000174 http://purl.obolibrary.org/obo/HP_0000228 Oral cavity telangiectasia 'Oral cavity telangiectasia' SubClassOf 'Vascular skin abnormality' 'Oral cavity telangiectasia' SubClassOf http://purl.obolibrary.org/obo/HP_0001009 http://www.ebi.ac.uk/efo/EFO_1000864 cholecystolithiasis 'cholecystolithiasis' SubClassOf 'gallbladder disease' 'cholecystolithiasis' SubClassOf 'hereditary gallbladder disorder' 'cholecystolithiasis' SubClassOf 'cholelithiasis' http://www.ebi.ac.uk/efo/EFO_1000865 choledocholithiasis 'choledocholithiasis' SubClassOf 'hereditary gallbladder disorder' 'choledocholithiasis' SubClassOf 'cholelithiasis' http://purl.obolibrary.org/obo/HP_0000252 Microcephaly 'Microcephaly' SubClassOf 'Abnormal skull morphology' 'Microcephaly' SubClassOf http://purl.obolibrary.org/obo/HP_0040195 http://purl.obolibrary.org/obo/HP_0000260 Wide anterior fontanel 'Wide anterior fontanel' SubClassOf http://purl.obolibrary.org/obo/HP_0000239 http://purl.obolibrary.org/obo/HP_0000175 Cleft palate 'Cleft palate' SubClassOf http://purl.obolibrary.org/obo/HP_0000174 http://www.ebi.ac.uk/efo/EFO_0004915 vaspin measurement 'vaspin measurement' SubClassOf ('is_about' some 'type 2 diabetes mellitus') or ('is_about' some 'obesity') or ('is_about' some 'insulin resistance') 'vaspin measurement' SubClassOf ('is_about' some 'Insulin resistance') or ('is_about' some 'type 2 diabetes mellitus') or ('is_about' some 'obesity') http://www.ebi.ac.uk/efo/EFO_1000924 epilepsia partialis continua 'epilepsia partialis continua' SubClassOf 'epilepsy' 'epilepsia partialis continua' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/HP_0000098 Tall stature 'Tall stature' SubClassOf 'Growth abnormality' 'Tall stature' SubClassOf http://purl.obolibrary.org/obo/HP_0000002 http://www.orpha.net/ORDO/Orphanet_228366 CLN7 disease 'CLN7 disease' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_228363 CLN6 disease 'CLN6 disease' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_228360 CLN5 disease 'CLN5 disease' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_228354 CLN8 disease 'CLN8 disease' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_228357 CLN9 disease 'CLN9 disease' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0031219 mismatch repair cancer syndrome 'mismatch repair cancer syndrome' SubClassOf 'autosomal recessive disease' http://www.orpha.net/ORDO/Orphanet_228329 CLN1 disease 'CLN1 disease' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_228343 CLN4B disease 'CLN4B disease' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_228349 CLN2 disease 'CLN2 disease' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_228346 CLN3 disease 'CLN3 disease' SubClassOf 'eye degenerative disorder' http://www.ebi.ac.uk/efo/EFO_0700036 familial isolated dilated cardiomyopathy 'familial isolated dilated cardiomyopathy' SubClassOf 'familial dilated cardiomyopathy' 'familial isolated dilated cardiomyopathy' SubClassOf 'familial dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_228340 CLN4A disease 'CLN4A disease' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_1947 Progressive epilepsy - intellectual disability, Finnish type 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/HP_0009020 Exercise-induced muscle fatigue 'Exercise-induced muscle fatigue' SubClassOf 'Abnormal muscle physiology' 'Exercise-induced muscle fatigue' SubClassOf http://purl.obolibrary.org/obo/HP_0003750 http://purl.obolibrary.org/obo/HP_0000664 Synophrys 'Synophrys' SubClassOf 'Hypertrichosis' 'Synophrys' SubClassOf http://purl.obolibrary.org/obo/HP_0002219 http://www.ebi.ac.uk/efo/EFO_1000420 Ovarian Gonadoblastoma 'Ovarian Gonadoblastoma' SubClassOf 'ovarian neoplasm' 'Ovarian Gonadoblastoma' SubClassOf 'has_disease_location' some ('ovary' or ('part of' some 'ovary')) 'Ovarian Gonadoblastoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000421 Ovarian Granulosa Cell Tumor 'Ovarian Granulosa Cell Tumor' SubClassOf 'ovarian neoplasm' 'Ovarian Granulosa Cell Tumor' SubClassOf 'has_disease_location' some ('ovary' or ('part of' some 'ovary')) 'Ovarian Granulosa Cell Tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000440 Pancreatic Gastrinoma 'Pancreatic Gastrinoma' SubClassOf 'pancreatic neoplasm' 'Pancreatic Gastrinoma' SubClassOf 'endocrine neoplasm' 'Pancreatic Gastrinoma' SubClassOf 'has_disease_location' some ('pancreas' or ('part of' some 'pancreas')) 'Pancreatic Gastrinoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/GO_0000002 mitochondrial genome maintenance 'mitochondrial genome maintenance' SubClassOf 'organelle organization' 'mitochondrial genome maintenance' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000569 Testicular Leydig Cell Tumor 'Testicular Leydig Cell Tumor' SubClassOf 'testicular neoplasm' 'Testicular Leydig Cell Tumor' SubClassOf 'has_disease_location' some ('testis' or ('part of' some 'testis')) 'Testicular Leydig Cell Tumor' SubClassOf 'testicular disease' 'Testicular Leydig Cell Tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000567 Testicular Granulosa Cell Tumor 'Testicular Granulosa Cell Tumor' SubClassOf 'testicular neoplasm' 'Testicular Granulosa Cell Tumor' SubClassOf 'testicular disease' 'Testicular Granulosa Cell Tumor' SubClassOf 'has_disease_location' some ('testis' or ('part of' some 'testis')) 'Testicular Granulosa Cell Tumor' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0031006 neurodegeneration with ataxia and late-onset optic atrophy 'neurodegeneration with ataxia and late-onset optic atrophy' SubClassOf 'genetic disorder' 'neurodegeneration with ataxia and late-onset optic atrophy' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0016980 ATR-X-related syndrome 'ATR-X-related syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'ATR-X-related syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0002441 Jervell and Lange-Nielsen syndrome 'Jervell and Lange-Nielsen syndrome' SubClassOf 'familial long QT syndrome' 'Jervell and Lange-Nielsen syndrome' SubClassOf 'familial long QT syndrome' http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome 'Treacher-Collins syndrome' SubClassOf 'hereditary otorhinolaryngologic disease' http://www.ebi.ac.uk/efo/EFO_0005230 anxiety 'anxiety' SubClassOf 'Atypical behavior' 'anxiety' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016862 Alagille syndrome due to a JAG1 point mutation 'Alagille syndrome due to a JAG1 point mutation' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0002266 malt worker's lung 'malt worker's lung' SubClassOf 'occupational lung disease' http://www.ebi.ac.uk/efo/EFO_0005187 C-peptide measurement 'C-peptide measurement' SubClassOf ('is_about' some 'diabetes mellitus') or ('is_about' some 'insulin resistance') 'C-peptide measurement' SubClassOf ('is_about' some 'Insulin resistance') or ('is_about' some 'diabetes mellitus') http://purl.obolibrary.org/obo/MONDO_0016761 spondyloepiphyseal dysplasia 'spondyloepiphyseal dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0016648 multiple epiphyseal dysplasia 'multiple epiphyseal dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome 'recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome' SubClassOf 'zinc, elevated plasma' 'recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome' SubClassOf 'disorder of zinc metabolism' 'recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100510 spondyloepimetaphyseal dysplasia 'spondyloepimetaphyseal dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0100503 DPH5-related diphthamide-deficiency syndrome 'DPH5-related diphthamide-deficiency syndrome' SubClassOf 'Mendelian neurodevelopmental disorder' 'DPH5-related diphthamide-deficiency syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_1040022 linkeropathy 'linkeropathy' SubClassOf 'connective tissue disease' 'linkeropathy' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0016537 lymphoproliferative syndrome 'lymphoproliferative syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome 'Lennox-Gastaut syndrome' SubClassOf 'childhood-onset epilepsy syndrome' 'Lennox-Gastaut syndrome' SubClassOf 'childhood electroclinical syndrome' 'Lennox-Gastaut syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800500 http://purl.obolibrary.org/obo/MONDO_1040012 PI4KA-related disorder 'PI4KA-related disorder' SubClassOf 'gastrointestinal defect and immunodeficiency syndrome' 'PI4KA-related disorder' SubClassOf 'complex hereditary spastic paraplegia' 'PI4KA-related disorder' SubClassOf 'bilateral perisylvian polymicrogyria' 'PI4KA-related disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100355 classic or non-classic genetic disease presentation 'classic or non-classic genetic disease presentation' DisjointUnionOf 'classic presentation', 'non-classic presentation' http://purl.obolibrary.org/obo/MONDO_0100369 iatrogenic or non-iatrogenic 'iatrogenic or non-iatrogenic' DisjointUnionOf 'iatrogenic', http://purl.obolibrary.org/obo/MONDO_0100427 http://purl.obolibrary.org/obo/MONDO_0100455 neonatal-onset developmental and epileptic encephalopathy 'neonatal-onset developmental and epileptic encephalopathy' SubClassOf 'neonatal epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0100449 FLVCR1-related retinopathy with or without ataxia 'FLVCR1-related retinopathy with or without ataxia' SubClassOf 'eye degenerative disorder' http://www.ebi.ac.uk/efo/EFO_0005627 perianal Crohn's disease 'perianal Crohn's disease' EquivalentTo 'Crohn's disease' and ('disease has inflammation site' some 'anal canal') 'perianal Crohn's disease' SubClassOf 'disease has inflammation site' some 'anal canal' 'perianal Crohn's disease' SubClassOf 'large intestine disorder' 'perianal Crohn's disease' SubClassOf 'gastroenteritis' 'perianal Crohn's disease' SubClassOf 'inflammatory disease' 'perianal Crohn's disease' EquivalentTo 'Crohn's disease' and ('disease has inflammation site' some 'anal region') 'perianal Crohn's disease' SubClassOf 'disease has inflammation site' some 'anal region' http://www.ebi.ac.uk/efo/EFO_0005694 KMS-11 'KMS-11' SubClassOf 'derives_from' some ('lymphoblast' and ('part of' some ('pleural effusion' and ('part of' some 'Homo sapiens')))) 'KMS-11' SubClassOf 'derives_from' some ('lymphoblast' and ('part of' some ('Pleural effusion' and ('part of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/MONDO_0016605 perinatal lethal hypophosphatasia 'perinatal lethal hypophosphatasia' SubClassOf 'hypophosphatasia' 'perinatal lethal hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100609 http://purl.obolibrary.org/obo/MONDO_0016613 APC-related attenuated familial adenomatous polyposis 'APC-related attenuated familial adenomatous polyposis' SubClassOf 'attenuated familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0100265 peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain 'peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0100310 hereditary cerebellar ataxia 'hereditary cerebellar ataxia' SubClassOf 'cerebellar degeneration' 'hereditary cerebellar ataxia' SubClassOf 'inherited neurodegenerative disorder' http://www.ebi.ac.uk/efo/EFO_0005534 delayed encephalopathy after acute carbon monoxide poisoning 'delayed encephalopathy after acute carbon monoxide poisoning' SubClassOf 'brain disease' 'delayed encephalopathy after acute carbon monoxide poisoning' SubClassOf 'brain injury' 'delayed encephalopathy after acute carbon monoxide poisoning' SubClassOf 'toxic encephalopathy' http://www.ebi.ac.uk/efo/EFO_0005569 microphthalmia 'microphthalmia' SubClassOf 'eye disease' 'microphthalmia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100581 http://www.ebi.ac.uk/efo/EFO_0005571 osteochondrodysplasia 'osteochondrodysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0100196 TPM2-related myopathy 'TPM2-related myopathy' SubClassOf 'congenital nervous system disorder' 'TPM2-related myopathy' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0100150 RYR1-related myopathy 'RYR1-related myopathy' SubClassOf 'hereditary neuromuscular disease' 'RYR1-related myopathy' SubClassOf 'congenital nervous system disorder' 'RYR1-related myopathy' SubClassOf 'muscular channelopathy' http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency 'mitochondrial complex I deficiency' SubClassOf 'mitochondrial complex deficiency' 'mitochondrial complex I deficiency' SubClassOf 'mitochondrial complex deficiency' http://purl.obolibrary.org/obo/MONDO_0100135 Dravet syndrome 'Dravet syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800490 http://purl.obolibrary.org/obo/MONDO_0100147 SATB2 associated disorder 'SATB2 associated disorder' SubClassOf 'hereditary neurological disease' 'SATB2 associated disorder' SubClassOf 'syndromic intellectual disability' 'SATB2 associated disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome 'hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome' SubClassOf 'arhinia, choanal atresia, and microphthalmia' 'hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100222 A20 haploinsufficiency 'A20 haploinsufficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0010882 Pulmonary valve atresia 'Pulmonary valve atresia' SubClassOf 'Abnormal heart morphology' 'Pulmonary valve atresia' SubClassOf http://purl.obolibrary.org/obo/HP_0001654 http://www.orpha.net/ORDO/Orphanet_77299 Microphthalmia - brain atrophy 'Microphthalmia - brain atrophy' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0100095 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 'neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures' SubClassOf 'inherited neurodegenerative disorder' 'neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0600009 severe hypophosphatasia 'severe hypophosphatasia' SubClassOf 'hypophosphatasia' 'severe hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100609 http://purl.obolibrary.org/obo/MONDO_0100052 acetazolamide-responsive hereditary episodic ataxia 'acetazolamide-responsive hereditary episodic ataxia' SubClassOf 'hereditary episodic ataxia' 'acetazolamide-responsive hereditary episodic ataxia' SubClassOf 'disease responds to' some 'acetazolamide' 'acetazolamide-responsive hereditary episodic ataxia' EquivalentTo 'hereditary episodic ataxia' and ('disease responds to' some 'acetazolamide') http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy 'developmental and epileptic encephalopathy' SubClassOf 'complex neurodevelopmental disorder' 'developmental and epileptic encephalopathy' SubClassOf 'neonatal/infantile epilepsy syndrome' 'developmental and epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100620 http://purl.obolibrary.org/obo/MONDO_0600011 mild hypophosphatasia 'mild hypophosphatasia' SubClassOf 'hypophosphatasia' 'mild hypophosphatasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100608 http://purl.obolibrary.org/obo/MONDO_0100030 adolescent/adult-onset epilepsy syndrome 'adolescent/adult-onset epilepsy syndrome' SubClassOf 'epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0100036 variable age onset epilepsy 'variable age onset epilepsy' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0100040 FOXG1 disorder 'FOXG1 disorder' SubClassOf 'monogenic epilepsy' 'FOXG1 disorder' SubClassOf 'atypical Rett syndrome' 'FOXG1 disorder' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0100024 self-limited familial infantile epilepsy 'self-limited familial infantile epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800488 http://purl.obolibrary.org/obo/MONDO_0100025 epilepsy of infancy with migrating focal seizures 'epilepsy of infancy with migrating focal seizures' SubClassOf 'neonatal/infantile epilepsy syndrome' 'epilepsy of infancy with migrating focal seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800490 http://purl.obolibrary.org/obo/MONDO_0016290 Hernández-Aguirre Negrete syndrome 'Hernández-Aguirre Negrete syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'Hernández-Aguirre Negrete syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0005721 SK-N-DZ 'SK-N-DZ' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0005725 BE(2)-C 'BE(2)-C' SubClassOf 'Homo sapiens cell line' http://purl.obolibrary.org/obo/HP_0009717 Cortical tubers 'Cortical tubers' SubClassOf 'Abnormal cerebral morphology' 'Cortical tubers' SubClassOf http://purl.obolibrary.org/obo/HP_0002538 http://www.ebi.ac.uk/efo/EFO_0005719 Karpas 422 'Karpas 422' SubClassOf 'derives_from' some ('B cell' and ('part of' some ('pleural effusion' and ('part of' some 'Homo sapiens')))) 'Karpas 422' SubClassOf 'derives_from' some ('B cell' and ('part of' some ('Pleural effusion' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0005762 neuropathic pain 'neuropathic pain' SubClassOf 'pain' 'neuropathic pain' SubClassOf 'Pain' http://www.ebi.ac.uk/efo/EFO_0005769 calcium metabolic disease 'calcium metabolic disease' SubClassOf 'disease disrupts' some 'calcium ion homeostasis' 'calcium metabolic disease' SubClassOf 'disease disrupts' some 'calcium ion homeostasis' http://purl.obolibrary.org/obo/HP_0009736 Tibial pseudarthrosis 'Tibial pseudarthrosis' SubClassOf 'Abnormal long bone morphology' 'Tibial pseudarthrosis' SubClassOf http://purl.obolibrary.org/obo/HP_0005864 http://purl.obolibrary.org/obo/HP_0009763 Limb pain 'Limb pain' SubClassOf 'pain' http://www.ebi.ac.uk/efo/EFO_0009625 facial pain 'facial pain' SubClassOf 'pain' 'facial pain' SubClassOf 'Pain' http://www.ebi.ac.uk/efo/EFO_0009637 pleural effusion 'pleural effusion' SubClassOf 'sign or symptom' 'pleural effusion' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0020038 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 'megacystis-microcolon-intestinal hypoperistalsis syndrome 5' SubClassOf 'megacystis-microcolon-intestinal hypoperistalsis syndrome' 'megacystis-microcolon-intestinal hypoperistalsis syndrome 5' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0020039 neuronal ceroid-lipofuscinosis, dominant/recessive 'neuronal ceroid-lipofuscinosis, dominant/recessive' SubClassOf 'eye degenerative disorder' http://www.ebi.ac.uk/efo/EFO_0020030 tubulinopathy 'tubulinopathy' SubClassOf 'congenital nervous system disorder' 'tubulinopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012638 microphthalmia-brain atrophy syndrome 'microphthalmia-brain atrophy syndrome' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0012667 dilated cardiomyopathy 1W 'dilated cardiomyopathy 1W' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1W' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/GO_0043655 host extracellular space 'host extracellular space' SubClassOf 'cellular_component' 'host extracellular space' SubClassOf 'other organism part' http://purl.obolibrary.org/obo/GO_0043657 host cell 'host cell' SubClassOf 'cellular_component' 'host cell' SubClassOf 'other organism part' http://purl.obolibrary.org/obo/MONDO_0012590 XFE progeroid syndrome 'XFE progeroid syndrome' SubClassOf 'genetic disorder' 'XFE progeroid syndrome' SubClassOf 'progeroid syndrome' http://www.ebi.ac.uk/efo/EFO_0009863 anxiety measurement 'anxiety measurement' SubClassOf 'is_about' some 'anxiety' 'anxiety measurement' SubClassOf 'is_about' some 'Anxiety' http://purl.obolibrary.org/obo/HP_0030096 Abnormal muscle fiber dystrophin expression 'Abnormal muscle fiber dystrophin expression' SubClassOf 'Abnormal skeletal muscle morphology' 'Abnormal muscle fiber dystrophin expression' SubClassOf http://purl.obolibrary.org/obo/HP_0004303 http://purl.obolibrary.org/obo/MONDO_0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant 'neuronal ceroid lipofuscinosis 8 northern epilepsy variant' SubClassOf 'juvenile myoclonic epilepsy' http://www.ebi.ac.uk/efo/EFO_0009874 decreased anxiety-related response 'decreased anxiety-related response' SubClassOf 'anxiety' 'decreased anxiety-related response' SubClassOf 'Anxiety' http://purl.obolibrary.org/obo/MONDO_0012466 Parkinson disease 13, autosomal dominant, susceptibility to 'Parkinson disease 13, autosomal dominant, susceptibility to' SubClassOf 'predisposes towards' some 'Parkinson disease' 'Parkinson disease 13, autosomal dominant, susceptibility to' SubClassOf 'predisposes towards' some 'young-onset Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0012475 cone dystrophy with supernormal rod response 'cone dystrophy with supernormal rod response' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040063 http://www.ebi.ac.uk/efo/EFO_0009840 tachypnea 'tachypnea' SubClassOf 'alteration in respiration' 'tachypnea' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012282 Al-Gazali syndrome 'Al-Gazali syndrome' SubClassOf 'genetic disorder' 'Al-Gazali syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100586 'Al-Gazali syndrome' SubClassOf 'developmental anomaly of metabolic origin' http://www.ebi.ac.uk/efo/EFO_0009715 wheezing 'wheezing' SubClassOf 'sign or symptom' 'wheezing' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012143 hereditary cryohydrocytosis with reduced stomatin 'hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'syndromic intellectual disability' 'hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'hereditary neurological disease' 'hereditary cryohydrocytosis with reduced stomatin' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0012154 myopia 6 'myopia 6' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100581 http://purl.obolibrary.org/obo/MONDO_0012166 autosomal dominant sensory ataxia 1 'autosomal dominant sensory ataxia 1' SubClassOf 'sensory ataxia' 'autosomal dominant sensory ataxia 1' SubClassOf 'hereditary ataxia' 'autosomal dominant sensory ataxia 1' SubClassOf 'sensory ataxia' 'autosomal dominant sensory ataxia 1' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0012183 melanoma, cutaneous malignant, susceptibility to, 3 'melanoma, cutaneous malignant, susceptibility to, 3' SubClassOf 'susceptibility to familial cutaneous melanoma' 'melanoma, cutaneous malignant, susceptibility to, 3' SubClassOf 'susceptibility to familial cutaneous melanoma' http://purl.obolibrary.org/obo/MONDO_0012197 idiopathic aplastic anemia 'idiopathic aplastic anemia' SubClassOf 'aplastic anemia' 'idiopathic aplastic anemia' SubClassOf 'aplastic anemia' http://purl.obolibrary.org/obo/MONDO_0012206 spondyloepiphyseal dysplasia with metatarsal shortening 'spondyloepiphyseal dysplasia with metatarsal shortening' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepiphyseal dysplasia with metatarsal shortening' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100602 http://purl.obolibrary.org/obo/HP_0030230 Central core regions in muscle fibers 'Central core regions in muscle fibers' SubClassOf 'Abnormal skeletal muscle morphology' 'Central core regions in muscle fibers' SubClassOf http://purl.obolibrary.org/obo/HP_0004303 http://purl.obolibrary.org/obo/MONDO_0012041 familial adenomatous polyposis 2 'familial adenomatous polyposis 2' SubClassOf 'attenuated familial adenomatous polyposis' 'familial adenomatous polyposis 2' SubClassOf 'classic familial adenomatous polyposis' 'familial adenomatous polyposis 2' SubClassOf 'classic or attenuated familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0012062 dilated cardiomyopathy 1O 'dilated cardiomyopathy 1O' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1O' SubClassOf 'familial isolated dilated cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0803321 premature ejaculation 'premature ejaculation' SubClassOf 'Abnormality of the genital system' 'premature ejaculation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0002735 anal canal adenocarcinoma 'anal canal adenocarcinoma' EquivalentTo 'adenocarcinoma' and ('disease has location' some 'anal canal') 'anal canal adenocarcinoma' SubClassOf 'anal canal carcinoma' 'anal canal adenocarcinoma' SubClassOf 'anus adenocarcinoma' http://purl.obolibrary.org/obo/HP_0030122 Reduced muscle fiber perlecan 'Reduced muscle fiber perlecan' SubClassOf 'Abnormal skeletal muscle morphology' 'Reduced muscle fiber perlecan' SubClassOf http://purl.obolibrary.org/obo/HP_0004303 http://purl.obolibrary.org/obo/HP_0030120 Absent muscle fiber calpain-3 'Absent muscle fiber calpain-3' SubClassOf 'Abnormal skeletal muscle morphology' 'Absent muscle fiber calpain-3' SubClassOf http://purl.obolibrary.org/obo/HP_0004303 http://purl.obolibrary.org/obo/HP_0030114 Absent muscle fiber dysferlin 'Absent muscle fiber dysferlin' SubClassOf 'Abnormal skeletal muscle morphology' 'Absent muscle fiber dysferlin' SubClassOf http://purl.obolibrary.org/obo/HP_0004303 http://purl.obolibrary.org/obo/MONDO_0012128 transposition of the great arteries, dextro-looped 'transposition of the great arteries, dextro-looped' SubClassOf 'dextro-looped transposition of the great arteries' http://www.orpha.net/ORDO/Orphanet_199348 Thiamine-responsive encephalopathy 'Thiamine-responsive encephalopathy' SubClassOf 'vitamin metabolic disorder' http://purl.obolibrary.org/obo/HP_0005164 Dysplastic pulmonary valve 'Dysplastic pulmonary valve' SubClassOf 'Abnormal heart morphology' 'Dysplastic pulmonary valve' SubClassOf http://purl.obolibrary.org/obo/HP_0001654 http://purl.obolibrary.org/obo/HP_0030402 Abnormal platelet aggregation 'Abnormal platelet aggregation' SubClassOf 'Abnormality of blood and blood-forming tissues' 'Abnormal platelet aggregation' SubClassOf http://purl.obolibrary.org/obo/HP_0011869 http://purl.obolibrary.org/obo/MONDO_0002460 lacrimal system cancer 'lacrimal system cancer' SubClassOf 'ocular cancer' 'lacrimal system cancer' SubClassOf 'ocular cancer' http://purl.obolibrary.org/obo/GO_0008614 pyridoxine metabolic process 'pyridoxine metabolic process' SubClassOf 'vitamin metabolic process' 'pyridoxine metabolic process' SubClassOf 'metabolic process' http://purl.obolibrary.org/obo/GO_0033643 host cell part 'host cell part' SubClassOf 'cellular_component' 'host cell part' SubClassOf 'other organism part' http://purl.obolibrary.org/obo/MONDO_0002579 orbit embryonal rhabdomyosarcoma 'orbit embryonal rhabdomyosarcoma' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0002574 prostate embryonal rhabdomyosarcoma 'prostate embryonal rhabdomyosarcoma' SubClassOf 'prostate cancer, hereditary' http://purl.obolibrary.org/obo/MONDO_0007215 brachydactyly type A1 'brachydactyly type A1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0975810 http://purl.obolibrary.org/obo/MONDO_0007269 dilated cardiomyopathy 1A 'dilated cardiomyopathy 1A' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1A' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0007273 paragangliomas 4 'paragangliomas 4' SubClassOf 'peripheral nervous system cancer' 'paragangliomas 4' SubClassOf 'central nervous system cancer' 'paragangliomas 4' SubClassOf 'hereditary pheochromocytoma-paraganglioma' 'paragangliomas 4' SubClassOf 'Malignant Urinary System Neoplasm' 'paragangliomas 4' SubClassOf 'adrenal gland cancer' 'paragangliomas 4' SubClassOf 'hereditary pheochromocytoma-paraganglioma' 'paragangliomas 4' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007295 childhood epilepsy with centrotemporal spikes 'childhood epilepsy with centrotemporal spikes' SubClassOf 'childhood electroclinical syndrome' 'childhood epilepsy with centrotemporal spikes' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800502 http://purl.obolibrary.org/obo/UBERON_0001043 esophagus 'esophagus' SubClassOf 'viscus' 'esophagus' SubClassOf 'part of' some 'thoracic segment of trunk' 'esophagus' SubClassOf 'part of' some 'trunk' 'esophagus' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/MONDO_0007108 anal canal carcinoma 'anal canal carcinoma' EquivalentTo 'carcinoma' and ('disease has location' some 'anal canal') 'anal canal carcinoma' SubClassOf 'epithelial tumor of anal canal' 'anal canal carcinoma' SubClassOf 'anal canal cancer' 'anal canal carcinoma' SubClassOf 'anal carcinoma' http://purl.obolibrary.org/obo/MONDO_0007160 Stickler syndrome type 1 'Stickler syndrome type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100602 http://purl.obolibrary.org/obo/MONDO_0022606 branchial arch disease 'branchial arch disease' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/HP_0030834 Shoulder pain 'Shoulder pain' SubClassOf 'pain' http://purl.obolibrary.org/obo/HP_0030833 Neck pain 'Neck pain' SubClassOf 'pain' http://purl.obolibrary.org/obo/HP_0030838 Hip pain 'Hip pain' SubClassOf 'pain' http://purl.obolibrary.org/obo/MONDO_0850093 absence epilepsy 'absence epilepsy' SubClassOf 'electroclinical syndrome' http://purl.obolibrary.org/obo/HP_0005879 Congenital finger flexion contractures 'Congenital finger flexion contractures' SubClassOf 'Joint contracture of the hand' 'Congenital finger flexion contractures' SubClassOf 'Abnormal finger morphology' 'Congenital finger flexion contractures' SubClassOf http://purl.obolibrary.org/obo/HP_0001220 http://purl.obolibrary.org/obo/HP_0005873 Polysyndactyly of hallux 'Polysyndactyly of hallux' SubClassOf 'Polydactyly' 'Polysyndactyly of hallux' SubClassOf 'Abnormal toe morphology' 'Polysyndactyly of hallux' SubClassOf http://purl.obolibrary.org/obo/HP_0001841 http://purl.obolibrary.org/obo/HP_0030766 Ear pain 'Ear pain' SubClassOf 'pain' http://purl.obolibrary.org/obo/OBI_0600044 lavage 'lavage' SubClassOf 'has specified output' some http://purl.obolibrary.org/obo/OBI_0000047 http://purl.obolibrary.org/obo/HP_0040185 Macrothrombocytopenia 'Macrothrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/HP_0011877 http://purl.obolibrary.org/obo/HP_0040183 Encopresis 'Encopresis' SubClassOf 'Abnormality of the digestive system' 'Encopresis' SubClassOf 'Constitutional symptom' 'Encopresis' SubClassOf http://purl.obolibrary.org/obo/HP_0002607 http://purl.obolibrary.org/obo/GO_0045184 establishment of protein localization 'establishment of protein localization' SubClassOf 'protein localization' http://purl.obolibrary.org/obo/MONDO_0859156 dysostosis multiplex, Ain-Naz type 'dysostosis multiplex, Ain-Naz type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859150 BDV syndrome 'BDV syndrome' SubClassOf 'genetic disorder' 'BDV syndrome' SubClassOf 'Prader-Willi-like syndrome' http://purl.obolibrary.org/obo/MONDO_0012933 breast-ovarian cancer, familial, susceptibility to, 2 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf 'predisposes towards' some 'hereditary breast ovarian cancer syndrome' 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf 'hereditary breast ovarian cancer syndrome' 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf 'BRCA2-related cancer predisposition' http://purl.obolibrary.org/obo/MONDO_0012967 hemolytic anemia due to adenylate kinase deficiency 'hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'familial hemolytic anemia' 'hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'congenital nonspherocytic hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0012960 intellectual disability, autosomal dominant 5 'intellectual disability, autosomal dominant 5' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0012992 pancreatic insufficiency-anemia-hyperostosis syndrome 'pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf 'cytochrome-c oxidase deficiency disease' 'pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0012808 dilated cardiomyopathy 1AA 'dilated cardiomyopathy 1AA' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1AA' SubClassOf 'familial isolated dilated cardiomyopathy' 'dilated cardiomyopathy 1AA' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700349 http://purl.obolibrary.org/obo/MONDO_0012807 epidermolysis bullosa simplex 5C, with pyloric atresia 'epidermolysis bullosa simplex 5C, with pyloric atresia' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060109 http://purl.obolibrary.org/obo/MONDO_0957266 RECON progeroid syndrome 'RECON progeroid syndrome' SubClassOf 'genetic disorder' 'RECON progeroid syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0012853 Fontaine progeroid syndrome 'Fontaine progeroid syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0957225 neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities 'neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities' SubClassOf 'inherited neurodegenerative disorder' 'neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0957248 developmental and epileptic encephalopathy, 31B 'developmental and epileptic encephalopathy, 31B' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 31B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700339 http://purl.obolibrary.org/obo/MONDO_0957211 neurodegeneration and seizures due to copper transport defect 'neurodegeneration and seizures due to copper transport defect' SubClassOf 'genetic disorder' 'neurodegeneration and seizures due to copper transport defect' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/HP_0001022 Albinism 'Albinism' SubClassOf http://purl.obolibrary.org/obo/HP_0005599 http://www.ebi.ac.uk/efo/EFO_0008037 BMI-adjusted fasting blood insulin measurement 'BMI-adjusted fasting blood insulin measurement' SubClassOf ('is_about' some 'diabetes mellitus') or ('is_about' some 'insulinoma') or ('is_about' some 'obesity') or ('is_about' some 'insulin resistance') or ('is_about' some 'Cushing syndrome') 'BMI-adjusted fasting blood insulin measurement' SubClassOf ('is_about' some 'Insulin resistance') or ('is_about' some 'diabetes mellitus') or ('is_about' some 'insulinoma') or ('is_about' some 'obesity') or ('is_about' some 'Cushing syndrome') http://purl.obolibrary.org/obo/HP_0001034 Hypermelanotic macule 'Hypermelanotic macule' SubClassOf http://purl.obolibrary.org/obo/HP_0012733 http://purl.obolibrary.org/obo/MONDO_0012704 dilated cardiomyopathy 1X 'dilated cardiomyopathy 1X' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1X' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012730 aortic aneurysm, familial thoracic 6 'aortic aneurysm, familial thoracic 6' SubClassOf 'multisystemic smooth muscle dysfunction syndrome' http://purl.obolibrary.org/obo/MONDO_0012745 dilated cardiomyopathy 1Z 'dilated cardiomyopathy 1Z' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1Z' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012746 dilated cardiomyopathy 2A 'dilated cardiomyopathy 2A' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 2A' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012792 mitochondrial DNA depletion syndrome 8a 'mitochondrial DNA depletion syndrome 8a' SubClassOf 'mitochondrial neurogastrointestinal encephalomyopathy' http://purl.obolibrary.org/obo/HP_0001308 Tongue fasciculations 'Tongue fasciculations' SubClassOf 'Abnormal central motor function' 'Tongue fasciculations' SubClassOf 'Abnormality of movement' 'Tongue fasciculations' SubClassOf http://purl.obolibrary.org/obo/HP_0004305 http://purl.obolibrary.org/obo/HP_0001336 Myoclonus 'Myoclonus' SubClassOf 'Abnormal central motor function' 'Myoclonus' SubClassOf 'Abnormality of movement' 'Myoclonus' SubClassOf http://purl.obolibrary.org/obo/HP_0004305 http://purl.obolibrary.org/obo/HP_0001337 Tremor 'Tremor' SubClassOf 'Abnormality of movement' 'Tremor' SubClassOf 'Abnormal central motor function' 'Tremor' SubClassOf http://purl.obolibrary.org/obo/HP_0004305 http://purl.obolibrary.org/obo/MONDO_0007924 Bannayan-Riley-Ruvalcaba syndrome 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007963 melanoma, cutaneous malignant, susceptibility to, 1 'melanoma, cutaneous malignant, susceptibility to, 1' SubClassOf 'susceptibility to familial cutaneous melanoma' 'melanoma, cutaneous malignant, susceptibility to, 1' SubClassOf 'susceptibility to familial cutaneous melanoma' http://purl.obolibrary.org/obo/MONDO_0007964 melanoma, cutaneous malignant, susceptibility to, 2 'melanoma, cutaneous malignant, susceptibility to, 2' SubClassOf 'susceptibility to familial cutaneous melanoma' 'melanoma, cutaneous malignant, susceptibility to, 2' SubClassOf 'autosomal dominant disease' 'melanoma, cutaneous malignant, susceptibility to, 2' SubClassOf 'susceptibility to familial cutaneous melanoma' 'melanoma, cutaneous malignant, susceptibility to, 2' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007977 mesomelic dysplasia, Kantaputra type 'mesomelic dysplasia, Kantaputra type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007987 Kniest dysplasia 'Kniest dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'Kniest dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0007983 Schmid metaphyseal chondrodysplasia 'Schmid metaphyseal chondrodysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007982 metaphyseal chondrodysplasia, Jansen type 'metaphyseal chondrodysplasia, Jansen type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0017306 disorder of phenylalanine metabolism 'disorder of phenylalanine metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0017307 disorder of tyrosine metabolism 'disorder of tyrosine metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0032941 myopia 27 'myopia 27' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100581 http://purl.obolibrary.org/obo/MONDO_0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 'early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf 'hereditary neurological disease' 'early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060139 http://purl.obolibrary.org/obo/HP_0001215 Camptodactyly of 2nd-5th fingers 'Camptodactyly of 2nd-5th fingers' SubClassOf 'Abnormal finger morphology' 'Camptodactyly of 2nd-5th fingers' SubClassOf 'Joint contracture of the hand' 'Camptodactyly of 2nd-5th fingers' SubClassOf http://purl.obolibrary.org/obo/HP_0001220 http://purl.obolibrary.org/obo/MONDO_0017350 inborn disorder of tryptophan metabolism 'inborn disorder of tryptophan metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0017366 hereditary pheochromocytoma-paraganglioma 'hereditary pheochromocytoma-paraganglioma' SubClassOf 'adrenal gland disease' 'hereditary pheochromocytoma-paraganglioma' SubClassOf 'hereditary neoplastic syndrome' 'hereditary pheochromocytoma-paraganglioma' SubClassOf 'neuroendocrine neoplasm' 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 'keratinopathic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0007846 KBG syndrome 'KBG syndrome' SubClassOf 'syndromic intellectual disability' 'KBG syndrome' SubClassOf 'hereditary neurological disease' 'KBG syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0032758 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 'neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia' SubClassOf 'genetic disorder' 'neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/HP_0001476 Delayed closure of the anterior fontanelle 'Delayed closure of the anterior fontanelle' SubClassOf http://purl.obolibrary.org/obo/HP_0000270 http://purl.obolibrary.org/obo/MONDO_0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 'osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/HP_0011182 Interictal epileptiform activity 'Interictal epileptiform activity' SubClassOf 'EEG abnormality' 'Interictal epileptiform activity' SubClassOf http://purl.obolibrary.org/obo/HP_0025373 http://purl.obolibrary.org/obo/MONDO_0007688 Myhre syndrome 'Myhre syndrome' SubClassOf 'hereditary neurological disease' 'Myhre syndrome' SubClassOf 'syndromic intellectual disability' 'Myhre syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0032651 fibrosis, neurodegeneration, and cerebral angiomatosis 'fibrosis, neurodegeneration, and cerebral angiomatosis' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/HP_0001702 Abnormal tricuspid valve morphology 'Abnormal tricuspid valve morphology' SubClassOf 'Abnormal heart morphology' 'Abnormal tricuspid valve morphology' SubClassOf http://purl.obolibrary.org/obo/HP_0001654 http://purl.obolibrary.org/obo/HP_0001647 Bicuspid aortic valve 'Bicuspid aortic valve' SubClassOf 'Abnormal heart morphology' 'Bicuspid aortic valve' SubClassOf http://purl.obolibrary.org/obo/HP_0001646 http://purl.obolibrary.org/obo/HP_0001633 Abnormal mitral valve morphology 'Abnormal mitral valve morphology' SubClassOf 'Abnormal heart morphology' 'Abnormal mitral valve morphology' SubClassOf http://purl.obolibrary.org/obo/HP_0001654 http://www.ebi.ac.uk/efo/EFO_0003843 pain 'pain' SubClassOf 'sign or symptom' 'pain' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007561 multiple epiphyseal dysplasia type 1 'multiple epiphyseal dysplasia type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100593 http://www.ebi.ac.uk/efo/EFO_0003757 Asperger syndrome 'Asperger syndrome' SubClassOf 'autism spectrum disorder' 'Asperger syndrome' SubClassOf 'autism spectrum disorder' http://purl.obolibrary.org/obo/GO_0015939 pantothenate metabolic process 'pantothenate metabolic process' SubClassOf 'vitamin metabolic process' http://purl.obolibrary.org/obo/MONDO_0007481 Leri-Weill dyschondrosteosis 'Leri-Weill dyschondrosteosis' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/HP_0001894 Thrombocytosis 'Thrombocytosis' SubClassOf 'Abnormality of blood and blood-forming tissues' 'Thrombocytosis' SubClassOf http://purl.obolibrary.org/obo/HP_0011875 http://www.orpha.net/ORDO/Orphanet_276267 Xeroderma pigmentosum complementation group G 'Xeroderma pigmentosum complementation group G' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_276264 Xeroderma pigmentosum complementation group F 'Xeroderma pigmentosum complementation group F' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_276258 Xeroderma pigmentosum complementation group D 'Xeroderma pigmentosum complementation group D' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_276252 Xeroderma pigmentosum complementation group B 'Xeroderma pigmentosum complementation group B' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/HP_0001873 Thrombocytopenia 'Thrombocytopenia' SubClassOf 'Abnormality of blood and blood-forming tissues' 'Thrombocytopenia' SubClassOf http://purl.obolibrary.org/obo/HP_0011875 http://purl.obolibrary.org/obo/MONDO_0007340 cleidocranial dysplasia 1 'cleidocranial dysplasia 1' SubClassOf 'skeletal dysplasia' http://www.orpha.net/ORDO/Orphanet_168486 Congenital neuronal ceroid lipofuscinosis 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/HP_0001830 Postaxial foot polydactyly 'Postaxial foot polydactyly' SubClassOf 'Abnormal toe morphology' 'Postaxial foot polydactyly' SubClassOf 'Polydactyly' 'Postaxial foot polydactyly' SubClassOf http://purl.obolibrary.org/obo/HP_0001829 http://purl.obolibrary.org/obo/MONDO_0013017 hypotrichosis 5 'hypotrichosis 5' SubClassOf 'Marie Unna hereditary hypotrichosis' 'hypotrichosis 5' SubClassOf 'Marie Unna hereditary hypotrichosis' http://purl.obolibrary.org/obo/MONDO_0013030 dilated cardiomyopathy 1BB 'dilated cardiomyopathy 1BB' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1BB' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/HP_0011555 Double inlet left ventricle 'Double inlet left ventricle' SubClassOf 'Abnormal heart morphology' 'Double inlet left ventricle' SubClassOf http://purl.obolibrary.org/obo/HP_0001750 http://purl.obolibrary.org/obo/MONDO_0013056 developmental and epileptic encephalopathy, 39 'developmental and epileptic encephalopathy, 39' SubClassOf 'neonatal epilepsy syndrome' http://www.orpha.net/ORDO/Orphanet_52368 Mohr-Tranebjaerg syndrome 'Mohr-Tranebjaerg syndrome' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0003778 inborn error of immunity 'inborn error of immunity' SubClassOf 'immune deficiency disease' 'inborn error of immunity' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/HP_0011476 Profound sensorineural hearing impairment 'Profound sensorineural hearing impairment' SubClassOf http://purl.obolibrary.org/obo/HP_0012715 http://purl.obolibrary.org/obo/HP_0011483 Anterior synechiae of the anterior chamber 'Anterior synechiae of the anterior chamber' SubClassOf 'Abnormal anterior eye segment morphology' 'Anterior synechiae of the anterior chamber' SubClassOf http://purl.obolibrary.org/obo/HP_0000593 http://purl.obolibrary.org/obo/MONDO_0003582 hereditary breast ovarian cancer syndrome 'hereditary breast ovarian cancer syndrome' SubClassOf 'autosomal dominant disease' 'hereditary breast ovarian cancer syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/HP_0011494 Generalized opacification of the cornea 'Generalized opacification of the cornea' SubClassOf 'Corneal opacity' 'Generalized opacification of the cornea' SubClassOf http://purl.obolibrary.org/obo/HP_0007759 http://purl.obolibrary.org/obo/MONDO_0003504 anal canal neuroendocrine neoplasm 'anal canal neuroendocrine neoplasm' SubClassOf 'neuroendocrine carcinoma' 'anal canal neuroendocrine neoplasm' SubClassOf 'rectum neuroendocrine neoplasm' 'anal canal neuroendocrine neoplasm' EquivalentTo 'neuroendocrine neoplasm' and ('disease has location' some 'anal canal') 'anal canal neuroendocrine neoplasm' SubClassOf 'anal canal carcinoma' http://purl.obolibrary.org/obo/HP_0011705 First degree atrioventricular block 'First degree atrioventricular block' SubClassOf 'Abnormality of cardiovascular system electrophysiology' 'First degree atrioventricular block' SubClassOf http://purl.obolibrary.org/obo/HP_0012722 http://purl.obolibrary.org/obo/HP_0011706 Second degree atrioventricular block 'Second degree atrioventricular block' SubClassOf 'Abnormality of cardiovascular system electrophysiology' 'Second degree atrioventricular block' SubClassOf http://purl.obolibrary.org/obo/HP_0012722 http://purl.obolibrary.org/obo/HP_0011712 Complete right bundle branch block 'Complete right bundle branch block' SubClassOf 'Abnormality of cardiovascular system electrophysiology' 'Complete right bundle branch block' SubClassOf http://purl.obolibrary.org/obo/HP_0012722 http://purl.obolibrary.org/obo/HP_0011713 Left bundle branch block 'Left bundle branch block' SubClassOf 'Abnormality of cardiovascular system electrophysiology' 'Left bundle branch block' SubClassOf http://purl.obolibrary.org/obo/HP_0012722 http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor 'hereditary Wilms tumor' SubClassOf 'kidney Wilms tumor' 'hereditary Wilms tumor' SubClassOf 'inherited kidney disorder' 'hereditary Wilms tumor' SubClassOf 'genetic disorder' 'hereditary Wilms tumor' SubClassOf 'Wilms tumor' http://purl.obolibrary.org/obo/MONDO_0017998 PLA2G6-associated neurodegeneration 'PLA2G6-associated neurodegeneration' SubClassOf 'neurodegeneration with brain iron accumulation' 'PLA2G6-associated neurodegeneration' SubClassOf 'neurodegeneration with brain iron accumulation' http://purl.obolibrary.org/obo/HP_0011659 Tetralogy of Fallot with absent pulmonary valve 'Tetralogy of Fallot with absent pulmonary valve' SubClassOf http://purl.obolibrary.org/obo/HP_0001654 http://purl.obolibrary.org/obo/CL_0002187 basal cell of epidermis 'basal cell of epidermis' SubClassOf 'epidermal cell' http://purl.obolibrary.org/obo/MONDO_0017925 T-cell immunodeficiency with epidermodysplasia verruciformis 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017940 autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation 'autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100629 http://purl.obolibrary.org/obo/MONDO_0017790 gastric adenocarcinoma and proximal polyposis of the stomach 'gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_0004233 leukopenia 'leukopenia' SubClassOf 'inheres in part of' some 'immune system' 'leukopenia' SubClassOf 'Abnormal leukocyte morphology' 'leukopenia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0004237 Graves disease 'Graves disease' SubClassOf 'goiter' http://www.ebi.ac.uk/efo/EFO_0004256 neuromyelitis optica 'neuromyelitis optica' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0017814 primary bone lymphoma 'primary bone lymphoma' SubClassOf 'Malignant Bone Neoplasm' 'primary bone lymphoma' SubClassOf 'Malignant Bone Neoplasm' http://purl.obolibrary.org/obo/MONDO_0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion 'severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060108 http://purl.obolibrary.org/obo/MONDO_0017615 benign familial infantile epilepsy 'benign familial infantile epilepsy' SubClassOf 'infancy electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0017623 PTEN hamartoma tumor syndrome 'PTEN hamartoma tumor syndrome' SubClassOf 'autosomal dominant disease' 'PTEN hamartoma tumor syndrome' SubClassOf 'hereditary neoplastic syndrome' http://www.ebi.ac.uk/efo/EFO_0004501 HOMA-IR 'HOMA-IR' SubClassOf ('is_about' some 'diabetes mellitus') or ('is_about' some 'insulin resistance') 'HOMA-IR' SubClassOf ('is_about' some 'Insulin resistance') or ('is_about' some 'diabetes mellitus') http://purl.obolibrary.org/obo/GO_0015031 protein transport 'protein transport' SubClassOf 'protein localization' http://purl.obolibrary.org/obo/MONDO_0017704 familial partial epilepsy 'familial partial epilepsy' SubClassOf 'adolescent-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0017571 Proteus-like syndrome 'Proteus-like syndrome' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0957953 Garg-Mishra progeroid syndrome 'Garg-Mishra progeroid syndrome' SubClassOf 'progeria' 'Garg-Mishra progeroid syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0013931 peroxisome biogenesis disorder 4B 'peroxisome biogenesis disorder 4B' SubClassOf 'autosomal recessive syndromic cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0013953 immunodeficiency 28 'immunodeficiency 28' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0037938 inborn disorder of aspartate family metabolism 'inborn disorder of aspartate family metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/HP_0031038 Spermatogenesis maturation arrest 'Spermatogenesis maturation arrest' SubClassOf 'Abnormality of the genital system' 'Spermatogenesis maturation arrest' SubClassOf http://purl.obolibrary.org/obo/HP_0008669 http://purl.obolibrary.org/obo/MONDO_0013802 infantile cerebellar-retinal degeneration 'infantile cerebellar-retinal degeneration' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0013805 intellectual disability, autosomal dominant 13 'intellectual disability, autosomal dominant 13' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual disability, autosomal dominant 13' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0013848 dilated cardiomyopathy 2B 'dilated cardiomyopathy 2B' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 2B' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013898 karyomegalic interstitial nephritis 'karyomegalic interstitial nephritis' SubClassOf 'DNA repair deficiency' http://purl.obolibrary.org/obo/MONDO_0957985 neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline 'neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline' SubClassOf 'genetic disorder' 'neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline' SubClassOf 'inherited neurodegenerative disorder' http://www.ebi.ac.uk/efo/EFO_0008526 status epilepticus 'status epilepticus' SubClassOf 'epilepsy' 'status epilepticus' SubClassOf 'epilepsy' http://www.ebi.ac.uk/efo/EFO_0008544 analgesia requirement measurement 'analgesia requirement measurement' SubClassOf 'is_about' some 'pain' 'analgesia requirement measurement' SubClassOf 'is_about' some 'Pain' http://purl.obolibrary.org/obo/MONDO_0859221 Yoon-Bellen neurodevelopmental syndrome 'Yoon-Bellen neurodevelopmental syndrome' SubClassOf 'Mendelian neurodevelopmental disorder' 'Yoon-Bellen neurodevelopmental syndrome' SubClassOf 'Neurodevelopmental disorder' http://www.ebi.ac.uk/efo/EFO_0008588 peritonitis 'peritonitis' SubClassOf 'digestive system disease' 'peritonitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'peritoneum') 'peritonitis' SubClassOf 'digestive system infectious disorder' 'peritonitis' EquivalentTo 'infectious disease' and ('disease has inflammation site' some 'peritoneum') http://purl.obolibrary.org/obo/MONDO_0859206 neurodevelopmental disorder with hearing loss and spasticity 'neurodevelopmental disorder with hearing loss and spasticity' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with hearing loss and spasticity' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0013700 pancreatic triacylglycerol lipase deficiency 'pancreatic triacylglycerol lipase deficiency' SubClassOf 'inherited lipid metabolism disorder' 'pancreatic triacylglycerol lipase deficiency' SubClassOf 'pancreas disease' 'pancreatic triacylglycerol lipase deficiency' SubClassOf 'inherited lipid metabolism disorder' 'pancreatic triacylglycerol lipase deficiency' SubClassOf 'pancreas disease' http://purl.obolibrary.org/obo/MONDO_0013759 melanoma, cutaneous malignant, susceptibility to, 8 'melanoma, cutaneous malignant, susceptibility to, 8' SubClassOf 'susceptibility to familial cutaneous melanoma' 'melanoma, cutaneous malignant, susceptibility to, 8' SubClassOf 'susceptibility to familial cutaneous melanoma' http://purl.obolibrary.org/obo/MONDO_0859358 cardiomyopathy, dilated, 2H 'cardiomyopathy, dilated, 2H' SubClassOf 'familial dilated cardiomyopathy' 'cardiomyopathy, dilated, 2H' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013602 paragangliomas 5 'paragangliomas 5' SubClassOf 'hereditary pheochromocytoma-paraganglioma' 'paragangliomas 5' SubClassOf 'adrenal gland cancer' 'paragangliomas 5' SubClassOf 'hereditary pheochromocytoma-paraganglioma' 'paragangliomas 5' SubClassOf 'malignant endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0013655 intellectual disability, autosomal dominant 8 'intellectual disability, autosomal dominant 8' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0013479 dilated cardiomyopathy 1HH 'dilated cardiomyopathy 1HH' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1HH' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013523 Nestor-Guillermo progeria syndrome 'Nestor-Guillermo progeria syndrome' SubClassOf 'progeria' 'Nestor-Guillermo progeria syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0013542 Moyamoya disease 5 'Moyamoya disease 5' SubClassOf 'multisystemic smooth muscle dysfunction syndrome' http://purl.obolibrary.org/obo/MONDO_0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency 'recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013578 DYRK1A-related intellectual disability syndrome 'DYRK1A-related intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'DYRK1A-related intellectual disability syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'DYRK1A-related intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome 'intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'hereditary neurological disease' 'intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0013373 dilated cardiomyopathy 1V 'dilated cardiomyopathy 1V' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1V' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013371 dilated cardiomyopathy 1U 'dilated cardiomyopathy 1U' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1U' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q 'autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060109 http://purl.obolibrary.org/obo/MONDO_0013439 congenital bile acid synthesis defect 3 'congenital bile acid synthesis defect 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060107 http://purl.obolibrary.org/obo/MONDO_0013452 multisystemic smooth muscle dysfunction syndrome 'multisystemic smooth muscle dysfunction syndrome' SubClassOf 'vascular disease' 'multisystemic smooth muscle dysfunction syndrome' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0013275 hemolytic anemia due to glucophosphate isomerase deficiency 'hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'congenital nonspherocytic hemolytic anemia' 'hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'congenital nonspherocytic hemolytic anemia' http://purl.obolibrary.org/obo/HP_0006834 Developmental stagnation at onset of seizures 'Developmental stagnation at onset of seizures' SubClassOf 'Neurodevelopmental abnormality' 'Developmental stagnation at onset of seizures' SubClassOf http://purl.obolibrary.org/obo/HP_0007281 http://purl.obolibrary.org/obo/MONDO_0013339 dilated cardiomyopathy 1GG 'dilated cardiomyopathy 1GG' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1GG' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013147 dilated cardiomyopathy 1CC 'dilated cardiomyopathy 1CC' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1CC' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013168 dilated cardiomyopathy 1DD 'dilated cardiomyopathy 1DD' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1DD' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013198 dilated cardiomyopathy 1EE 'dilated cardiomyopathy 1EE' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1EE' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013196 Lynch syndrome 8 'Lynch syndrome 8' SubClassOf 'hereditary nonpolyposis colon cancer' 'Lynch syndrome 8' SubClassOf 'Lynch syndrome' http://purl.obolibrary.org/obo/MONDO_0013211 dilated cardiomyopathy 1FF 'dilated cardiomyopathy 1FF' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1FF' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/HP_0100299 Muscle fiber inclusion bodies 'Muscle fiber inclusion bodies' SubClassOf 'Abnormal skeletal muscle morphology' 'Muscle fiber inclusion bodies' SubClassOf http://purl.obolibrary.org/obo/HP_0004303 http://purl.obolibrary.org/obo/MONDO_0008523 Blau syndrome 'Blau syndrome' SubClassOf 'type II hypersensitivity reaction disease' 'Blau syndrome' SubClassOf 'autoimmune disorder of musculoskeletal system' http://purl.obolibrary.org/obo/MONDO_0033546 neurodegeneration, infantile-onset, biotin-responsive 'neurodegeneration, infantile-onset, biotin-responsive' SubClassOf 'genetic disorder' 'neurodegeneration, infantile-onset, biotin-responsive' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0958332 neuromuscular disorder, congenital, with dysmorphic facies 'neuromuscular disorder, congenital, with dysmorphic facies' SubClassOf 'hereditary neuromuscular disease' 'neuromuscular disorder, congenital, with dysmorphic facies' SubClassOf 'hereditary neuromuscular disease' http://purl.obolibrary.org/obo/MONDO_0958323 neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities 'neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder' 'neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0958326 macular dystrophy with or without cone dysfunction 'macular dystrophy with or without cone dysfunction' SubClassOf 'hereditary macular dystrophy' 'macular dystrophy with or without cone dysfunction' SubClassOf 'hereditary macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0958329 Jeffries-Lakhani neurodevelopmental syndrome 'Jeffries-Lakhani neurodevelopmental syndrome' SubClassOf 'Mendelian neurodevelopmental disorder' 'Jeffries-Lakhani neurodevelopmental syndrome' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0958328 Seckel syndrome 11 'Seckel syndrome 11' SubClassOf 'Seckel syndrome' 'Seckel syndrome 11' SubClassOf 'Seckel syndrome' http://purl.obolibrary.org/obo/MONDO_0958335 cutis laxa, autosomal recessive, type 1d 'cutis laxa, autosomal recessive, type 1d' SubClassOf 'autosomal recessive cutis laxa type 1' 'cutis laxa, autosomal recessive, type 1d' SubClassOf 'autosomal recessive cutis laxa type 1' http://purl.obolibrary.org/obo/OBI_0302903 nucleic acid hybridization 'nucleic acid hybridization' SubClassOf 'has specified output' some http://purl.obolibrary.org/obo/OBI_0000047 http://purl.obolibrary.org/obo/HP_0006978 Dysmyelinating leukodystrophy 'Dysmyelinating leukodystrophy' SubClassOf 'Morphological central nervous system abnormality' 'Dysmyelinating leukodystrophy' SubClassOf 'Abnormal myelination' 'Dysmyelinating leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/HP_0011400 http://purl.obolibrary.org/obo/MONDO_0008471 spondyloepiphyseal dysplasia congenita 'spondyloepiphyseal dysplasia congenita' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepiphyseal dysplasia congenita' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100602 http://purl.obolibrary.org/obo/MONDO_0008478 spondylometaphyseal dysplasia, Schmidt type 'spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'type 2 collagenopathy' 'spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'type 2 collagenopathy' http://purl.obolibrary.org/obo/HP_0100033 Tics 'Tics' SubClassOf 'Atypical behavior' 'Tics' SubClassOf http://purl.obolibrary.org/obo/HP_0000722 http://purl.obolibrary.org/obo/GO_0046655 folic acid metabolic process 'folic acid metabolic process' SubClassOf 'vitamin metabolic process' http://purl.obolibrary.org/obo/MONDO_0008318 Proteus syndrome 'Proteus syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008310 Hutchinson-Gilford progeria syndrome 'Hutchinson-Gilford progeria syndrome' SubClassOf 'progeria' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0008322 pseudoachondroplasia 'pseudoachondroplasia' SubClassOf 'skeletal dysplasia' 'pseudoachondroplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100593 http://www.orpha.net/ORDO/Orphanet_324604 Classic multiminicore myopathy 'Classic multiminicore myopathy' SubClassOf 'Genetic skeletal muscle disease' 'Classic multiminicore myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008209 Char syndrome 'Char syndrome' SubClassOf 'congenital heart disease' 'Char syndrome' SubClassOf 'syndromic disease' 'Char syndrome' SubClassOf 'cardiogenetic disease' 'Char syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100614 'Char syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1010098 http://purl.obolibrary.org/obo/MONDO_0008201 Perry syndrome 'Perry syndrome' SubClassOf 'hereditary neurological disease' 'Perry syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100624 http://purl.obolibrary.org/obo/MONDO_0008215 adult-onset autosomal dominant demyelinating leukodystrophy 'adult-onset autosomal dominant demyelinating leukodystrophy' SubClassOf 'leukodystrophy' 'adult-onset autosomal dominant demyelinating leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0976138 http://purl.obolibrary.org/obo/MONDO_0008233 pheochromocytoma 'pheochromocytoma' SubClassOf 'benign neoplasm of adrenal gland' 'pheochromocytoma' SubClassOf 'hereditary pheochromocytoma-paraganglioma' 'pheochromocytoma' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0958231 neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism 'neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism' SubClassOf 'monogenic epilepsy' 'neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0008272 polysyndactyly 4 'polysyndactyly 4' SubClassOf 'preaxial polydactyly of fingers' 'polysyndactyly 4' SubClassOf 'inborn errors of metabolism' 'polysyndactyly 4' SubClassOf 'non-syndromic polydactyly' http://purl.obolibrary.org/obo/MONDO_0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 'juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0008280 Peutz-Jeghers syndrome 'Peutz-Jeghers syndrome' SubClassOf 'autosomal dominant disease' http://www.orpha.net/ORDO/Orphanet_50944 Schöpf-Schulz-Passarge syndrome 'Schöpf-Schulz-Passarge syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'Schöpf-Schulz-Passarge syndrome' SubClassOf 'autosomal recessive disease' 'Schöpf-Schulz-Passarge syndrome' SubClassOf 'ectodermal dysplasia WNT10A related' http://purl.obolibrary.org/obo/HP_0002205 Recurrent respiratory infections 'Recurrent respiratory infections' SubClassOf 'Abnormal lung morphology' 'Recurrent respiratory infections' SubClassOf http://purl.obolibrary.org/obo/HP_0011947 http://purl.obolibrary.org/obo/HP_0002211 White forelock 'White forelock' SubClassOf 'Abnormality of the integument' 'White forelock' SubClassOf http://purl.obolibrary.org/obo/HP_0005599 http://purl.obolibrary.org/obo/HP_0002188 Delayed CNS myelination 'Delayed CNS myelination' SubClassOf 'Morphological central nervous system abnormality' 'Delayed CNS myelination' SubClassOf http://purl.obolibrary.org/obo/HP_0011400 http://purl.obolibrary.org/obo/HP_0100736 Abnormal soft palate morphology 'Abnormal soft palate morphology' SubClassOf 'Abnormality of the mouth' 'Abnormal soft palate morphology' SubClassOf http://purl.obolibrary.org/obo/HP_0000174 http://purl.obolibrary.org/obo/HP_0100749 Chest pain 'Chest pain' SubClassOf 'pain' http://purl.obolibrary.org/obo/HP_0002169 Clonus 'Clonus' SubClassOf 'Abnormal central motor function' 'Clonus' SubClassOf http://purl.obolibrary.org/obo/HP_0004305 http://purl.obolibrary.org/obo/MONDO_0008163 otofaciocervical syndrome 'otofaciocervical syndrome' SubClassOf 'disorder of development or morphogenesis' 'otofaciocervical syndrome' SubClassOf 'hereditary otorhinolaryngologic disease' 'otofaciocervical syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008192 paragangliomas 1 'paragangliomas 1' SubClassOf 'adrenal gland neoplasm' 'paragangliomas 1' SubClassOf 'hereditary pheochromocytoma-paraganglioma' 'paragangliomas 1' SubClassOf 'autosomal dominant disease' 'paragangliomas 1' SubClassOf 'hereditary pheochromocytoma-paraganglioma' http://purl.obolibrary.org/obo/HP_0002120 Cerebral cortical atrophy 'Cerebral cortical atrophy' SubClassOf http://purl.obolibrary.org/obo/HP_0002538 http://purl.obolibrary.org/obo/HP_0002072 Chorea 'Chorea' SubClassOf 'Abnormal central motor function' 'Chorea' SubClassOf 'Abnormality of movement' 'Chorea' SubClassOf http://purl.obolibrary.org/obo/HP_0004305 http://www.orpha.net/ORDO/Orphanet_251523 Recurrent infections - inflammatory syndrome due to zinc metabolism disorder 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0002090 Pneumonia 'Pneumonia' SubClassOf 'Abnormal lung morphology' 'Pneumonia' SubClassOf http://purl.obolibrary.org/obo/HP_0011947 http://purl.obolibrary.org/obo/HP_0002027 Abdominal pain 'Abdominal pain' SubClassOf 'pain' http://purl.obolibrary.org/obo/MONDO_0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome 'muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0008031 facioscapulohumeral muscular dystrophy 2 'facioscapulohumeral muscular dystrophy 2' SubClassOf 'facioscapulohumeral muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0008047 episodic ataxia type 1 'episodic ataxia type 1' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0008098 mesomelic dwarfism, Nievergelt type 'mesomelic dwarfism, Nievergelt type' SubClassOf 'skeletal dysplasia' http://www.ebi.ac.uk/efo/EFO_0022401 SK-N-BE(2) cell 'SK-N-BE(2) cell' SubClassOf 'Homo sapiens cell line' http://www.ebi.ac.uk/efo/EFO_0022456 HMC-1-8 cell 'HMC-1-8 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('pleural effusion' and ('part of' some 'Homo sapiens')))) 'HMC-1-8 cell' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('Pleural effusion' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022440 KGN cell 'KGN cell' SubClassOf 'bearer_of' some 'Ovarian Granulosa Cell Tumor' 'KGN cell' SubClassOf 'bearer_of' some 'ovarian granulosa cell tumor' http://www.ebi.ac.uk/efo/EFO_0022460 T47D-Y 'T47D-Y' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('pleural effusion' and ('part of' some 'Homo sapiens')))) 'T47D-Y' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('Pleural effusion' and ('part of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/HP_0100585 Telangiectasia of the skin 'Telangiectasia of the skin' SubClassOf 'Vascular skin abnormality' 'Telangiectasia of the skin' SubClassOf http://purl.obolibrary.org/obo/HP_0001009 http://purl.obolibrary.org/obo/HP_0002305 Athetosis 'Athetosis' SubClassOf 'Abnormality of movement' 'Athetosis' SubClassOf 'Abnormal central motor function' 'Athetosis' SubClassOf http://purl.obolibrary.org/obo/HP_0004305 http://purl.obolibrary.org/obo/HP_0002310 Orofacial dyskinesia 'Orofacial dyskinesia' SubClassOf 'Abnormality of movement' 'Orofacial dyskinesia' SubClassOf http://purl.obolibrary.org/obo/HP_0100660 http://purl.obolibrary.org/obo/HP_0002273 Tetraparesis 'Tetraparesis' SubClassOf 'Abnormal central motor function' 'Tetraparesis' SubClassOf http://purl.obolibrary.org/obo/HP_0030182 http://purl.obolibrary.org/obo/HP_0002290 Poliosis 'Poliosis' SubClassOf 'Abnormality of the integument' 'Poliosis' SubClassOf http://purl.obolibrary.org/obo/HP_0005599 http://purl.obolibrary.org/obo/MONDO_0004132 anal canal squamous cell carcinoma 'anal canal squamous cell carcinoma' SubClassOf 'anal canal carcinoma' 'anal canal squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and ('disease has location' some 'anal canal') 'anal canal squamous cell carcinoma' SubClassOf 'Anal Squamous Cell Carcinoma' http://www.ebi.ac.uk/efo/EFO_0002170 Detroit562 'Detroit562' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('pleural effusion' and ('part of' some 'Homo sapiens')))) 'Detroit562' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('Pleural effusion' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0002167 DOHH2 'DOHH2' SubClassOf 'derives_from' some ('B cell' and ('part of' some ('pleural effusion' and ('part of' some 'Homo sapiens')))) 'DOHH2' SubClassOf 'derives_from' some ('B cell' and ('part of' some ('Pleural effusion' and ('part of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/HP_0002508 Brainstem dysplasia 'Brainstem dysplasia' SubClassOf 'Abnormal brain morphology' 'Brainstem dysplasia' SubClassOf http://purl.obolibrary.org/obo/HP_0002363 http://www.orpha.net/ORDO/Orphanet_314629 CLN11 disease 'CLN11 disease' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0018656 tremor-ataxia-central hypomyelination syndrome 'tremor-ataxia-central hypomyelination syndrome' SubClassOf 'inherited neurodegenerative disorder' 'tremor-ataxia-central hypomyelination syndrome' SubClassOf 'eye degenerative disorder' 'tremor-ataxia-central hypomyelination syndrome' SubClassOf 'leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome' 'tremor-ataxia-central hypomyelination syndrome' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0018653 Polymerase proofreading-related adenomatous polyposis 'Polymerase proofreading-related adenomatous polyposis' SubClassOf 'attenuated familial adenomatous polyposis' 'Polymerase proofreading-related adenomatous polyposis' SubClassOf 'classic or attenuated familial adenomatous polyposis' http://purl.obolibrary.org/obo/HP_0002536 Abnormal cortical gyration 'Abnormal cortical gyration' SubClassOf 'Abnormal cerebral morphology' 'Abnormal cortical gyration' SubClassOf http://purl.obolibrary.org/obo/HP_0002538 http://www.ebi.ac.uk/efo/EFO_0002046 BC-3 'BC-3' SubClassOf 'derives_from' some ('lymphocyte' and ('part of' some ('pleural effusion' and ('part of' some 'Homo sapiens')))) 'BC-3' SubClassOf 'derives_from' some ('lymphocyte' and ('part of' some ('Pleural effusion' and ('part of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/HP_0012207 Reduced sperm motility 'Reduced sperm motility' SubClassOf 'Abnormality of the genital system' 'Reduced sperm motility' SubClassOf http://purl.obolibrary.org/obo/HP_0000025 http://purl.obolibrary.org/obo/HP_0002840 Lymphadenitis 'Lymphadenitis' SubClassOf 'Abnormality of the lymphatic system' 'Lymphadenitis' SubClassOf http://purl.obolibrary.org/obo/HP_0002733 http://purl.obolibrary.org/obo/MONDO_0018516 epithelial tumor of anal canal 'epithelial tumor of anal canal' SubClassOf 'intestinal neoplasm' 'epithelial tumor of anal canal' SubClassOf 'disease has location' some 'anal canal' 'epithelial tumor of anal canal' EquivalentTo 'epithelial neoplasm' and ('disease has location' some 'anal canal') 'epithelial tumor of anal canal' SubClassOf 'large intestine disorder' 'epithelial tumor of anal canal' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0018570 hypophosphatasia 'hypophosphatasia' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/HP_0012187 Increased erythrocyte protoporphyrin concentration 'Increased erythrocyte protoporphyrin concentration' SubClassOf 'Abnormality of metabolism/homeostasis' 'Increased erythrocyte protoporphyrin concentration' SubClassOf http://purl.obolibrary.org/obo/HP_0010472 http://www.ebi.ac.uk/efo/EFO_0002357 SUDHL6 'SUDHL6' SubClassOf 'derives_from' some ('B cell' and ('part of' some ('pleural effusion' and ('part of' some 'Homo sapiens')))) 'SUDHL6' SubClassOf 'derives_from' some ('B cell' and ('part of' some ('Pleural effusion' and ('part of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/HP_0002705 High, narrow palate 'High, narrow palate' SubClassOf http://purl.obolibrary.org/obo/HP_0000189 http://purl.obolibrary.org/obo/HP_0002716 Lymphadenopathy 'Lymphadenopathy' SubClassOf 'Abnormality of the lymphatic system' 'Lymphadenopathy' SubClassOf http://purl.obolibrary.org/obo/HP_0002733 http://purl.obolibrary.org/obo/MONDO_0018426 AXIN2-related attenuated familial adenomatous polyposis 'AXIN2-related attenuated familial adenomatous polyposis' SubClassOf 'attenuated familial adenomatous polyposis' 'AXIN2-related attenuated familial adenomatous polyposis' SubClassOf 'classic or attenuated familial adenomatous polyposis' http://purl.obolibrary.org/obo/HP_0012098 Edema of the dorsum of feet 'Edema of the dorsum of feet' SubClassOf 'Edema' 'Edema of the dorsum of feet' SubClassOf 'Abnormality of the lower limb' 'Edema of the dorsum of feet' SubClassOf http://purl.obolibrary.org/obo/HP_0010741 http://purl.obolibrary.org/obo/MONDO_0008948 cerebrotendinous xanthomatosis 'cerebrotendinous xanthomatosis' SubClassOf 'eye degenerative disorder' 'cerebrotendinous xanthomatosis' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0008947 bilateral striopallidodentate calcinosis 'bilateral striopallidodentate calcinosis' SubClassOf 'hereditary dementia' http://purl.obolibrary.org/obo/MONDO_0008972 rhizomelic chondrodysplasia punctata type 1 'rhizomelic chondrodysplasia punctata type 1' SubClassOf 'eye degenerative disorder' http://www.ebi.ac.uk/efo/EFO_0002614 insulin resistance 'insulin resistance' SubClassOf 'Abnormality of metabolism/homeostasis' 'insulin resistance' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018305 chronic granulomatous disease 'chronic granulomatous disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008999 Cohen syndrome 'Cohen syndrome' SubClassOf 'hereditary neurological disease' 'Cohen syndrome' SubClassOf 'syndromic intellectual disability' 'Cohen syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100598 http://www.ebi.ac.uk/efo/EFO_0002623 septic peritonitis 'septic peritonitis' SubClassOf 'digestive system infectious disorder' http://purl.obolibrary.org/obo/HP_0002937 Hemivertebrae 'Hemivertebrae' SubClassOf http://purl.obolibrary.org/obo/HP_0003422 http://purl.obolibrary.org/obo/HP_0012388 Acute bronchitis 'Acute bronchitis' SubClassOf 'Abnormal lung morphology' 'Acute bronchitis' SubClassOf http://purl.obolibrary.org/obo/HP_0011947 http://purl.obolibrary.org/obo/MONDO_0008840 ataxia telangiectasia 'ataxia telangiectasia' SubClassOf 'hereditary neurological disease' 'ataxia telangiectasia' SubClassOf 'hereditary cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0008878 bone dysplasia, lethal Holmgren type 'bone dysplasia, lethal Holmgren type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia 'childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'myopathy, proximal, and ophthalmoplegia' 'childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'autosomal recessive disease' 'childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'myopathy, proximal, and ophthalmoplegia' http://purl.obolibrary.org/obo/HP_0012358 Abnormal protein O-linked glycosylation 'Abnormal protein O-linked glycosylation' SubClassOf 'Abnormality of metabolism/homeostasis' 'Abnormal protein O-linked glycosylation' SubClassOf http://purl.obolibrary.org/obo/HP_0012345 http://purl.obolibrary.org/obo/MONDO_0033885 mitochondrial complex IV deficiency, nuclear-type 'mitochondrial complex IV deficiency, nuclear-type' SubClassOf 'mitochondrial complex deficiency' 'mitochondrial complex IV deficiency, nuclear-type' SubClassOf 'mitochondrial complex deficiency' http://www.ebi.ac.uk/efo/EFO_0002429 polycythemia vera 'polycythemia vera' SubClassOf 'polycythemia' 'polycythemia vera' SubClassOf 'hereditary disorder of connective tissue' 'polycythemia vera' SubClassOf 'familial polycythemia' http://purl.obolibrary.org/obo/MONDO_0958018 leukodystrophy, hypomyelinating, 27 'leukodystrophy, hypomyelinating, 27' SubClassOf 'leukodystrophy' 'leukodystrophy, hypomyelinating, 27' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100605 http://purl.obolibrary.org/obo/HP_0012630 Abnormal trabecular meshwork morphology 'Abnormal trabecular meshwork morphology' SubClassOf 'Abnormal anterior eye segment morphology' 'Abnormal trabecular meshwork morphology' SubClassOf http://purl.obolibrary.org/obo/HP_0000593 http://www.orpha.net/ORDO/Orphanet_79171 Disorder of cobalamin metabolism and transport 'Disorder of cobalamin metabolism and transport' SubClassOf 'vitamin metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0008755 Moynahan syndrome 'Moynahan syndrome' SubClassOf 'epilepsy syndrome' 'Moynahan syndrome' SubClassOf 'hyperpigmentation of the skin' 'Moynahan syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0043106 ichthyosis linearis circumflexa 'ichthyosis linearis circumflexa' SubClassOf 'inherited ichthyosis' 'ichthyosis linearis circumflexa' SubClassOf 'inherited ichthyosis' http://purl.obolibrary.org/obo/MONDO_0018160 hereditary retinoblastoma 'hereditary retinoblastoma' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0018199 new-onset refractory status epilepticus 'new-onset refractory status epilepticus' SubClassOf 'adolescent-onset epilepsy syndrome' http://purl.obolibrary.org/obo/HP_0012532 Chronic pain 'Chronic pain' SubClassOf 'pain' http://purl.obolibrary.org/obo/HP_0012524 Abnormal platelet shape 'Abnormal platelet shape' SubClassOf 'Abnormality of blood and blood-forming tissues' 'Abnormal platelet shape' SubClassOf http://purl.obolibrary.org/obo/HP_0011875 http://purl.obolibrary.org/obo/MONDO_0008619 ulna metaphyseal dysplasia syndrome 'ulna metaphyseal dysplasia syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type 'mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008620 upper limb mesomelic dysplasia 'upper limb mesomelic dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008654 spinocerebellar ataxia 27A 'spinocerebellar ataxia 27A' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0008667 von Hippel-Lindau disease 'von Hippel-Lindau disease' SubClassOf 'hereditary neurological disease' 'von Hippel-Lindau disease' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0008691 zinc, elevated plasma 'zinc, elevated plasma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033667 Delpire-McNeill syndrome 'Delpire-McNeill syndrome' SubClassOf 'genetic disorder' 'Delpire-McNeill syndrome' SubClassOf 'autosomal dominant disease' 'Delpire-McNeill syndrome' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0033664 Kilquist syndrome 'Kilquist syndrome' SubClassOf 'genetic disorder' 'Kilquist syndrome' SubClassOf 'autosomal recessive disease' 'Kilquist syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0859000 http://purl.obolibrary.org/obo/OBI_0400117 vacuum dryer 'vacuum dryer' SubClassOf http://purl.obolibrary.org/obo/OBI_0000968 http://purl.obolibrary.org/obo/OBI_0400116 thermal cycler 'thermal cycler' SubClassOf http://purl.obolibrary.org/obo/OBI_0000968 http://purl.obolibrary.org/obo/OBI_0400115 spectrophotometer 'spectrophotometer' SubClassOf http://purl.obolibrary.org/obo/OBI_0000968 http://purl.obolibrary.org/obo/OBI_0400114 sonicator 'sonicator' SubClassOf http://purl.obolibrary.org/obo/OBI_0000968 http://purl.obolibrary.org/obo/OBI_0400118 vortexer 'vortexer' SubClassOf http://purl.obolibrary.org/obo/OBI_0000968 http://purl.obolibrary.org/obo/OBI_0400113 oligonucleotide synthesizer 'oligonucleotide synthesizer' SubClassOf http://purl.obolibrary.org/obo/OBI_0000968 http://purl.obolibrary.org/obo/OBI_0400112 liquid handler 'liquid handler' SubClassOf http://purl.obolibrary.org/obo/OBI_0000968 http://purl.obolibrary.org/obo/OBI_0400111 hybridization station 'hybridization station' SubClassOf http://purl.obolibrary.org/obo/OBI_0000968 http://purl.obolibrary.org/obo/OBI_0400110 hybridization chamber 'hybridization chamber' SubClassOf http://purl.obolibrary.org/obo/OBI_0000968 http://purl.obolibrary.org/obo/MONDO_0018097 West syndrome 'West syndrome' SubClassOf 'neonatal/infantile epilepsy syndrome' 'West syndrome' SubClassOf 'infancy electroclinical syndrome' 'West syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800490 http://purl.obolibrary.org/obo/OBI_0400106 centrifuge 'centrifuge' SubClassOf http://purl.obolibrary.org/obo/OBI_0000968 http://purl.obolibrary.org/obo/OBI_0400105 arrayer 'arrayer' SubClassOf http://purl.obolibrary.org/obo/OBI_0000968 http://purl.obolibrary.org/obo/OBI_0400104 array scanner 'array scanner' SubClassOf http://purl.obolibrary.org/obo/OBI_0000968 http://purl.obolibrary.org/obo/OBI_0400103 DNA sequencer 'DNA sequencer' SubClassOf http://purl.obolibrary.org/obo/OBI_0000968 http://purl.obolibrary.org/obo/OBI_0400109 homogenizer 'homogenizer' SubClassOf http://purl.obolibrary.org/obo/OBI_0000968 http://purl.obolibrary.org/obo/OBI_0400108 heating block 'heating block' SubClassOf http://purl.obolibrary.org/obo/OBI_0000968 http://purl.obolibrary.org/obo/OBI_0400107 computer 'computer' SubClassOf http://purl.obolibrary.org/obo/OBI_0000968 http://purl.obolibrary.org/obo/OBI_0400155 water bath 'water bath' SubClassOf http://purl.obolibrary.org/obo/OBI_0000968 http://purl.obolibrary.org/obo/MONDO_0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome 'Bosch-Boonstra-Schaaf optic atrophy syndrome' SubClassOf 'syndromic intellectual disability' 'Bosch-Boonstra-Schaaf optic atrophy syndrome' SubClassOf 'hereditary neurological disease' 'Bosch-Boonstra-Schaaf optic atrophy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0014343 Desbuquois dysplasia 2 'Desbuquois dysplasia 2' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0014368 tumor predisposition syndrome 3 'tumor predisposition syndrome 3' SubClassOf 'susceptibility to familial cutaneous melanoma' 'tumor predisposition syndrome 3' SubClassOf 'susceptibility to familial cutaneous melanoma' http://purl.obolibrary.org/obo/MONDO_0014361 autism spectrum disorder due to AUTS2 deficiency 'autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'syndromic intellectual disability' 'autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'intellectual disability, autosomal dominant' 'autism spectrum disorder due to AUTS2 deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 'ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder' SubClassOf 'intellectual disability, autosomal dominant' 'ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder' SubClassOf 'syndromic intellectual disability' 'ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/HP_0012818 Biventricular noncompaction cardiomyopathy 'Biventricular noncompaction cardiomyopathy' SubClassOf 'Abnormal heart morphology' 'Biventricular noncompaction cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/HP_0012817 http://www.orpha.net/ORDO/Orphanet_99015 Spastic paraplegia type 2 'Spastic paraplegia type 2' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_99014 X-linked Charcot-Marie-Tooth disease type 5 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0014439 Bardet-Biedl syndrome 11 'Bardet-Biedl syndrome 11' SubClassOf 'qualitative or quantitative defects of TRIM32' 'Bardet-Biedl syndrome 11' SubClassOf 'qualitative or quantitative defects of TRIM32' http://purl.obolibrary.org/obo/MONDO_0004884 eye degenerative disorder 'eye degenerative disorder' EquivalentTo 'neurodegenerative disease' and ('disease has location' some 'eyeball of camera-type eye') 'eye degenerative disorder' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0004885 choroidal sclerosis 'choroidal sclerosis' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 'intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700294 'intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome 'intellectual disability-hypotonia-spasticity-sleep disorder syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-hypotonia-spasticity-sleep disorder syndrome' SubClassOf 'hereditary neurological disease' 'intellectual disability-hypotonia-spasticity-sleep disorder syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100598 http://purl.obolibrary.org/obo/MONDO_0014241 leukemia, acute lymphoblastic, susceptibility to, 3 'leukemia, acute lymphoblastic, susceptibility to, 3' SubClassOf 'predisposes towards' some 'acute lymphoblastic leukemia' 'leukemia, acute lymphoblastic, susceptibility to, 3' SubClassOf 'predisposes towards' some 'acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/HP_0012747 Abnormal brainstem MRI signal intensity 'Abnormal brainstem MRI signal intensity' SubClassOf 'Abnormal brain morphology' 'Abnormal brainstem MRI signal intensity' SubClassOf http://purl.obolibrary.org/obo/HP_0002363 http://purl.obolibrary.org/obo/MONDO_0004933 hypoplastic left heart syndrome 'hypoplastic left heart syndrome' SubClassOf 'syndromic disease' 'hypoplastic left heart syndrome' SubClassOf 'congenital heart disease' 'hypoplastic left heart syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100614 http://purl.obolibrary.org/obo/MONDO_0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity 'autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014100 dilated cardiomyopathy 1KK 'dilated cardiomyopathy 1KK' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1KK' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 'Ehlers-Danlos syndrome, spondylodysplastic type, 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100586 http://purl.obolibrary.org/obo/MONDO_0014157 mandibular hypoplasia-deafness-progeroid syndrome 'mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'genetic disorder' 'mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'premature aging syndrome' 'mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0014163 left ventricular noncompaction 10 'left ventricular noncompaction 10' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0004650 malignant carotid body paraganglioma 'malignant carotid body paraganglioma' SubClassOf 'vascular cancer' 'malignant carotid body paraganglioma' SubClassOf 'vascular cancer' http://purl.obolibrary.org/obo/MONDO_0014006 Schuurs-Hoeijmakers syndrome 'Schuurs-Hoeijmakers syndrome' SubClassOf 'syndromic intellectual disability' 'Schuurs-Hoeijmakers syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'Schuurs-Hoeijmakers syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0014035 severe intellectual disability-progressive spastic diplegia syndrome 'severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'syndromic intellectual disability' 'severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 'severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'syndromic intellectual disability' 'severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0014073 dilated cardiomyopathy 1II 'dilated cardiomyopathy 1II' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1II' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0014095 dilated cardiomyopathy 1JJ 'dilated cardiomyopathy 1JJ' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1JJ' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0004707 anal canal carcinoma in situ 'anal canal carcinoma in situ' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'anal canal') 'anal canal carcinoma in situ' SubClassOf 'anal canal carcinoma' 'anal canal carcinoma in situ' SubClassOf 'rectum carcinoma in situ' http://purl.obolibrary.org/obo/MONDO_0004736 inborn disorder of amino acid metabolism 'inborn disorder of amino acid metabolism' SubClassOf 'inborn errors of metabolism' 'inborn disorder of amino acid metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0004739 urea cycle disorder 'urea cycle disorder' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/HP_0032059 Mild malformation of cortical development 'Mild malformation of cortical development' SubClassOf 'Abnormal cerebral morphology' 'Mild malformation of cortical development' SubClassOf http://purl.obolibrary.org/obo/HP_0002538 http://www.ebi.ac.uk/efo/EFO_0003099 Cushing syndrome 'Cushing syndrome' SubClassOf 'adrenal gland disease' 'Cushing syndrome' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0004468 anal canal Paget disease 'anal canal Paget disease' EquivalentTo 'Paget disease' and ('disease has location' some 'anal canal') 'anal canal Paget disease' SubClassOf 'anal Paget disease' 'anal canal Paget disease' SubClassOf 'anal canal adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0018988 iridocorneal endothelial syndrome 'iridocorneal endothelial syndrome' SubClassOf 'syndromic disease' 'iridocorneal endothelial syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0004363 adult spinal cord glioblastoma 'adult spinal cord glioblastoma' SubClassOf 'spinal cord glioma' 'adult spinal cord glioblastoma' SubClassOf 'spinal cord glioma' http://purl.obolibrary.org/obo/MONDO_0018901 left ventricular noncompaction 'left ventricular noncompaction' SubClassOf 'syndromic disease' 'left ventricular noncompaction' SubClassOf 'congenital heart disease' 'left ventricular noncompaction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100614 http://www.ebi.ac.uk/efo/EFO_0022628 90C '90C' SubClassOf 'cultured cell' and ('derives_from' some ('cell type' and ('part of' some ('pleural effusion' and ('part of' some 'Homo sapiens'))))) '90C' SubClassOf 'cultured cell' and ('derives_from' some ('cell type' and ('part of' some ('Pleural effusion' and ('part of' some 'Homo sapiens'))))) http://www.ebi.ac.uk/efo/EFO_0801084 cancer pain 'cancer pain' SubClassOf 'pain' 'cancer pain' SubClassOf 'Pain' http://purl.obolibrary.org/obo/GO_0006768 biotin metabolic process 'biotin metabolic process' SubClassOf 'vitamin metabolic process' http://purl.obolibrary.org/obo/GO_0006772 thiamine metabolic process 'thiamine metabolic process' SubClassOf 'vitamin metabolic process' http://purl.obolibrary.org/obo/GO_0006776 vitamin A metabolic process 'vitamin A metabolic process' SubClassOf 'vitamin metabolic process' http://purl.obolibrary.org/obo/MONDO_0010006 Sandhoff disease 'Sandhoff disease' SubClassOf 'eye degenerative disorder' 'Sandhoff disease' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0010008 sarcosinemia 'sarcosinemia' SubClassOf 'inborn disorder of serine family metabolism' 'sarcosinemia' SubClassOf 'inborn disorder of serine family metabolism' http://purl.obolibrary.org/obo/MONDO_0010002 Rothmund-Thomson syndrome 'Rothmund-Thomson syndrome' SubClassOf 'telomere syndrome' http://purl.obolibrary.org/obo/MONDO_0000698 gamma-amino butyric acid metabolism disorder 'gamma-amino butyric acid metabolism disorder' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0010010 Schinzel-Giedion syndrome 'Schinzel-Giedion syndrome' SubClassOf 'hereditary neurological disease' 'Schinzel-Giedion syndrome' SubClassOf 'syndromic intellectual disability' 'Schinzel-Giedion syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0010026 SHORT syndrome 'SHORT syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060136 http://purl.obolibrary.org/obo/MONDO_0010031 Sjogren-Larsson syndrome 'Sjogren-Larsson syndrome' SubClassOf 'eye degenerative disorder' 'Sjogren-Larsson syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0010047 hereditary spastic paraplegia 5A 'hereditary spastic paraplegia 5A' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060107 http://purl.obolibrary.org/obo/MONDO_0024686 tenosynovial giant cell tumor, diffuse type 'tenosynovial giant cell tumor, diffuse type' SubClassOf 'Tenosynovial Giant Cell Tumor' 'tenosynovial giant cell tumor, diffuse type' SubClassOf 'Tenosynovial Giant Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0009068 cytochrome-c oxidase deficiency disease 'cytochrome-c oxidase deficiency disease' SubClassOf 'mitochondrial complex deficiency' 'cytochrome-c oxidase deficiency disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0007441 Hyperpigmented/hypopigmented macules 'Hyperpigmented/hypopigmented macules' SubClassOf http://purl.obolibrary.org/obo/HP_0012733 http://purl.obolibrary.org/obo/MONDO_0010066 familial isolated congenital asplenia 'familial isolated congenital asplenia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome 'autosomal recessive cerebellar ataxia-blindness-deafness syndrome' SubClassOf 'autosomal recessive syndromic cerebellar ataxia' 'autosomal recessive cerebellar ataxia-blindness-deafness syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0010063 corneal-cerebellar syndrome 'corneal-cerebellar syndrome' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 'spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100586 http://purl.obolibrary.org/obo/MONDO_0010078 spondyloperipheral dysplasia 'spondyloperipheral dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloperipheral dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100602 http://www.ebi.ac.uk/efo/EFO_0022513 UTMC-2 'UTMC-2' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('pleural effusion' and ('part of' some 'Homo sapiens')))) 'UTMC-2' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('Pleural effusion' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022548 MCF-7/MN1 'MCF-7/MN1' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('pleural effusion' and ('part of' some 'Homo sapiens')))) 'MCF-7/MN1' SubClassOf 'derives_from' some ('cell type' and ('part of' some ('Pleural effusion' and ('part of' some 'Homo sapiens')))) http://www.ebi.ac.uk/efo/EFO_0022582 SUP-T1 'SUP-T1' SubClassOf 'derives_from' some ('cultured cell' and ('part of' some ('pleural effusion' and ('part of' some 'Homo sapiens')))) 'SUP-T1' SubClassOf 'derives_from' some ('cultured cell' and ('part of' some ('Pleural effusion' and ('part of' some 'Homo sapiens')))) http://purl.obolibrary.org/obo/HP_0007305 CNS demyelination 'CNS demyelination' SubClassOf 'Morphological central nervous system abnormality' 'CNS demyelination' SubClassOf 'Abnormal myelination' 'CNS demyelination' SubClassOf http://purl.obolibrary.org/obo/HP_0011400 http://www.orpha.net/ORDO/Orphanet_99750 Atypical progressive supranuclear palsy 'Atypical progressive supranuclear palsy' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/HP_0007354 Amyotrophic lateral sclerosis 'Amyotrophic lateral sclerosis' SubClassOf 'Atrophy/Degeneration affecting the central nervous system' 'Amyotrophic lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/HP_0007373 http://purl.obolibrary.org/obo/HP_0007366 Atrophy/Degeneration affecting the brainstem 'Atrophy/Degeneration affecting the brainstem' SubClassOf 'Abnormal brain morphology' 'Atrophy/Degeneration affecting the brainstem' SubClassOf http://purl.obolibrary.org/obo/HP_0002363 http://purl.obolibrary.org/obo/HP_0007333 Hypoplasia of the frontal lobes 'Hypoplasia of the frontal lobes' SubClassOf http://purl.obolibrary.org/obo/HP_0002538 http://www.ebi.ac.uk/efo/EFO_0007262 epilepsy with generalized tonic-clonic seizures 'epilepsy with generalized tonic-clonic seizures' SubClassOf 'generalised epilepsy' 'epilepsy with generalized tonic-clonic seizures' SubClassOf 'adolescence-adult electroclinical syndrome' 'epilepsy with generalized tonic-clonic seizures' SubClassOf 'adolescent/adult-onset epilepsy syndrome' 'epilepsy with generalized tonic-clonic seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800487 http://purl.obolibrary.org/obo/HP_0007641 Dyschromatopsia 'Dyschromatopsia' SubClassOf 'Abnormality of vision' 'Dyschromatopsia' SubClassOf http://purl.obolibrary.org/obo/HP_0000551 http://purl.obolibrary.org/obo/MONDO_0000405 anal canal cancer 'anal canal cancer' SubClassOf 'intestinal cancer' 'anal canal cancer' EquivalentTo 'cancer' and ('disease has location' some 'anal canal') 'anal canal cancer' SubClassOf 'large intestine disorder' 'anal canal cancer' SubClassOf 'disease has location' some 'anal canal' http://purl.obolibrary.org/obo/MONDO_0000413 infancy electroclinical syndrome 'infancy electroclinical syndrome' SubClassOf 'electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0000412 neonatal period electroclinical syndrome 'neonatal period electroclinical syndrome' SubClassOf 'electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0000411 electroclinical syndrome 'electroclinical syndrome' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0000415 adolescence-adult electroclinical syndrome 'adolescence-adult electroclinical syndrome' SubClassOf 'electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0000414 childhood electroclinical syndrome 'childhood electroclinical syndrome' SubClassOf 'electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0000437 cerebellar ataxia 'cerebellar ataxia' SubClassOf 'cerebellar disorder' 'cerebellar ataxia' SubClassOf 'cerebellar degeneration' http://purl.obolibrary.org/obo/MONDO_0000456 cerebral creatine deficiency syndrome 'cerebral creatine deficiency syndrome' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://www.ebi.ac.uk/efo/EFO_0022740 N1E-115 'N1E-115' SubClassOf 'mouse cell line' http://purl.obolibrary.org/obo/MONDO_0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y 'autosomal recessive limb-girdle muscular dystrophy type 2Y' SubClassOf 'congenital nervous system disorder' 'autosomal recessive limb-girdle muscular dystrophy type 2Y' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100582 http://purl.obolibrary.org/obo/MONDO_0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome 'infantile-onset periodic fever-panniculitis-dermatosis syndrome' SubClassOf 'immune system disease' 'infantile-onset periodic fever-panniculitis-dermatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0975955 http://purl.obolibrary.org/obo/MONDO_0014916 developmental and epileptic encephalopathy, 41 'developmental and epileptic encephalopathy, 41' SubClassOf 'early myoclonic encephalopathy' 'developmental and epileptic encephalopathy, 41' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800491 http://purl.obolibrary.org/obo/MONDO_0014934 spinocerebellar ataxia, autosomal recessive 24 'spinocerebellar ataxia, autosomal recessive 24' SubClassOf 'autosomal dominant cerebellar ataxia' 'spinocerebellar ataxia, autosomal recessive 24' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0014940 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 'neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset' SubClassOf 'genetic disorder' 'neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0014944 short stature-brachydactyly-obesity-global developmental delay syndrome 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf 'hereditary neurological disease' 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf 'syndromic intellectual disability' 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100598 http://purl.obolibrary.org/obo/GO_0006487 protein N-linked glycosylation 'protein N-linked glycosylation' SubClassOf 'protein glycosylation' 'protein N-linked glycosylation' SubClassOf 'glycoprotein biosynthetic process' http://purl.obolibrary.org/obo/GO_0006493 protein O-linked glycosylation 'protein O-linked glycosylation' SubClassOf 'protein glycosylation' 'protein O-linked glycosylation' SubClassOf 'glycoprotein biosynthetic process' http://purl.obolibrary.org/obo/MONDO_0024357 drug induced central sleep apnea 'drug induced central sleep apnea' SubClassOf 'central sleep apnea syndrome' 'drug induced central sleep apnea' SubClassOf 'central sleep apnea syndrome' http://purl.obolibrary.org/obo/MONDO_0000389 atelosteogenesis 'atelosteogenesis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000160 epilepsy, familial adult myoclonic 'epilepsy, familial adult myoclonic' SubClassOf 'early myoclonic encephalopathy' 'epilepsy, familial adult myoclonic' SubClassOf 'myoclonic epilepsy' http://purl.obolibrary.org/obo/MONDO_0000193 cortisone reductase deficiency 'cortisone reductase deficiency' SubClassOf 'disease disrupts' some '11-beta-hydroxysteroid dehydrogenase [NAD(P)+] activity' http://purl.obolibrary.org/obo/MONDO_0014832 intellectual disability, autosomal recessive 53 'intellectual disability, autosomal recessive 53' SubClassOf 'hereditary neurological disease' 'intellectual disability, autosomal recessive 53' SubClassOf 'syndromic intellectual disability' 'intellectual disability, autosomal recessive 53' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100598 http://purl.obolibrary.org/obo/MONDO_0014831 progeroid and marfanoid aspect-lipodystrophy syndrome 'progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0014855 intellectual disability, autosomal dominant 42 'intellectual disability, autosomal dominant 42' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0700061 mosaic vs complete 'mosaic vs complete' DisjointUnionOf 'mosaic', http://purl.obolibrary.org/obo/MONDO_0700063 http://purl.obolibrary.org/obo/MONDO_0700062 mosaic 'mosaic' DisjointWith http://purl.obolibrary.org/obo/MONDO_0700063 http://purl.obolibrary.org/obo/MONDO_0000236 oropharyngeal anthrax 'oropharyngeal anthrax' SubClassOf 'gastrointestinal anthrax' 'oropharyngeal anthrax' SubClassOf 'gastrointestinal anthrax' http://purl.obolibrary.org/obo/MONDO_0014878 patent ductus arteriosus 2 'patent ductus arteriosus 2' SubClassOf 'cardiogenetic disease' 'patent ductus arteriosus 2' SubClassOf 'congenital heart disease' 'patent ductus arteriosus 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_1010098 http://purl.obolibrary.org/obo/MONDO_0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 'micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0700004 idiopathic vs non-idiopathic 'idiopathic vs non-idiopathic' DisjointUnionOf 'idiopathic', http://purl.obolibrary.org/obo/MONDO_0700006 http://purl.obolibrary.org/obo/MONDO_0000066 mitochondrial complex deficiency 'mitochondrial complex deficiency' SubClassOf 'inborn mitochondrial metabolism disorder' 'mitochondrial complex deficiency' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://www.ebi.ac.uk/efo/EFO_0007385 mushroom workers' lung 'mushroom workers' lung' SubClassOf 'occupational lung disease' http://www.ebi.ac.uk/efo/EFO_0007388 myelophthisic anemia 'myelophthisic anemia' SubClassOf 'idiopathic aplastic anemia' 'myelophthisic anemia' SubClassOf 'aplastic anemia' http://purl.obolibrary.org/obo/HP_0007803 Monochromacy 'Monochromacy' SubClassOf 'Abnormality of vision' 'Monochromacy' SubClassOf http://purl.obolibrary.org/obo/HP_0000551 http://purl.obolibrary.org/obo/MONDO_0014701 spondyloepiphyseal dysplasia, Stanescu type 'spondyloepiphyseal dysplasia, Stanescu type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepiphyseal dysplasia, Stanescu type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100602 http://purl.obolibrary.org/obo/MONDO_0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 'primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014732 hypomyelinating leukodystrophy 12 'hypomyelinating leukodystrophy 12' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100617 http://purl.obolibrary.org/obo/MONDO_0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome 'cardiac anomalies - developmental delay - facial dysmorphism syndrome' SubClassOf 'hereditary neurological disease' 'cardiac anomalies - developmental delay - facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'cardiac anomalies - developmental delay - facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0014598 developmental and epileptic encephalopathy, 31A 'developmental and epileptic encephalopathy, 31A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700339 http://purl.obolibrary.org/obo/MONDO_0014597 immunodeficiency 39 'immunodeficiency 39' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014593 developmental and epileptic encephalopathy, 29 'developmental and epileptic encephalopathy, 29' SubClassOf http://purl.obolibrary.org/obo/MONDO_1010132 http://purl.obolibrary.org/obo/MONDO_0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0014608 mandibulofacial dysostosis with alopecia 'mandibulofacial dysostosis with alopecia' SubClassOf 'hereditary otorhinolaryngologic disease' 'mandibulofacial dysostosis with alopecia' SubClassOf 'dysostosis' 'mandibulofacial dysostosis with alopecia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014602 Hogue-Janssens syndrome 1 'Hogue-Janssens syndrome 1' SubClassOf 'intellectual disability, autosomal dominant' 'Hogue-Janssens syndrome 1' SubClassOf 'syndromic intellectual disability' 'Hogue-Janssens syndrome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0014632 hypomyelinating leukodystrophy 10 'hypomyelinating leukodystrophy 10' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'hypomyelinating leukodystrophy 10' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014633 myoclonic-atonic epilepsy 'myoclonic-atonic epilepsy' SubClassOf 'myoclonic-astatic epilepsy' 'myoclonic-atonic epilepsy' SubClassOf 'syndromic disease' 'myoclonic-atonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800500 http://purl.obolibrary.org/obo/MONDO_0014645 BENTA disease 'BENTA disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0700282 POLR3-related leukodystrophy 'POLR3-related leukodystrophy' SubClassOf 'leukodystrophy' 'POLR3-related leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100605 http://purl.obolibrary.org/obo/MONDO_0014661 epidermolysis bullosa simplex with nail dystrophy 'epidermolysis bullosa simplex with nail dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060109 http://purl.obolibrary.org/obo/MONDO_0000030 sleep-related hypermotor epilepsy 'sleep-related hypermotor epilepsy' SubClassOf 'frontal lobe epilepsy' 'sleep-related hypermotor epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100631 http://purl.obolibrary.org/obo/MONDO_0014453 immunodeficiency 36 'immunodeficiency 36' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060136 http://purl.obolibrary.org/obo/MONDO_0968951 hypouricemia, renal 'hypouricemia, renal' SubClassOf 'hereditary renal hypouricemia' 'hypouricemia, renal' SubClassOf 'hereditary renal hypouricemia' http://purl.obolibrary.org/obo/MONDO_0014491 immunodeficiency 37 'immunodeficiency 37' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0968947 neurodevelopmental disorder plus optic atrophy 'neurodevelopmental disorder plus optic atrophy' SubClassOf 'Mendelian neurodevelopmental disorder' 'neurodevelopmental disorder plus optic atrophy' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0968946 developmental and epileptic encephalopathy 115 'developmental and epileptic encephalopathy 115' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy 115' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0968945 neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder 'neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder' SubClassOf 'Mendelian neurodevelopmental disorder' 'neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/HP_0007994 Peripheral visual field loss 'Peripheral visual field loss' SubClassOf 'Visual field defect' 'Peripheral visual field loss' SubClassOf http://purl.obolibrary.org/obo/HP_0001133 http://purl.obolibrary.org/obo/MONDO_0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation' SubClassOf 'autosomal dominant disease' 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060108 http://purl.obolibrary.org/obo/MONDO_0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 'autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome' SubClassOf 'syndromic intellectual disability' 'autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0010826 childhood absence epilepsy 'childhood absence epilepsy' SubClassOf 'childhood electroclinical syndrome' 'childhood absence epilepsy' SubClassOf 'generalised epilepsy' 'childhood absence epilepsy' SubClassOf 'absence epilepsy' 'childhood absence epilepsy' SubClassOf 'childhood-onset epilepsy syndrome' 'childhood absence epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800499 http://www.ebi.ac.uk/efo/EFO_1001511 monogenic diabetes 'monogenic diabetes' SubClassOf 'diabetes mellitus' 'monogenic diabetes' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/OBI_0000415 polymerase chain reaction PCR 'PCR' SubClassOf 'has specified output' some http://purl.obolibrary.org/obo/OBI_0000047 http://purl.obolibrary.org/obo/MONDO_0009868 glycogen storage disease IXb 'glycogen storage disease IXb' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease IXb' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700291 http://purl.obolibrary.org/obo/MONDO_0010881 mesomelia-synostoses syndrome 'mesomelia-synostoses syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010898 autosomal dominant epilepsy with auditory features 'autosomal dominant epilepsy with auditory features' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800496 http://purl.obolibrary.org/obo/MONDO_0019228 inborn disorder of histidine metabolism 'inborn disorder of histidine metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/OBI_0000512 single cell isolation isolation of cell population 'isolation of cell population' SubClassOf 'has specified output' some http://purl.obolibrary.org/obo/OBI_0000047 http://purl.obolibrary.org/obo/MONDO_0019239 inborn disorder of serine family metabolism 'inborn disorder of serine family metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0019237 inborn disorder of pyridoxine metabolism 'inborn disorder of pyridoxine metabolism' SubClassOf 'vitamin metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0019242 inborn disorder of branched-chain amino acid metabolism 'inborn disorder of branched-chain amino acid metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0020250 autosomal dominant optic atrophy 'autosomal dominant optic atrophy' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0020248 vitreoretinal degeneration 'vitreoretinal degeneration' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0009705 carnitine palmitoyl transferase 1A deficiency 'carnitine palmitoyl transferase 1A deficiency' SubClassOf 'disorder of carnitine cycle and carnitine transport' 'carnitine palmitoyl transferase 1A deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700284 http://purl.obolibrary.org/obo/MONDO_0010709 early-onset parkinsonism-intellectual disability syndrome 'early-onset parkinsonism-intellectual disability syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'early-onset parkinsonism-intellectual disability syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009712 congenital multicore myopathy with external ophthalmoplegia 'congenital multicore myopathy with external ophthalmoplegia' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010702 orofaciodigital syndrome I 'orofaciodigital syndrome I' SubClassOf 'ciliopathy' 'orofaciodigital syndrome I' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040039 http://purl.obolibrary.org/obo/MONDO_0009727 atelosteogenesis type II 'atelosteogenesis type II' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100592 http://purl.obolibrary.org/obo/MONDO_0010713 properdin deficiency, X-linked 'properdin deficiency, X-linked' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/OBI_0000552 reverse transcribed polymerase chain reaction 'reverse transcribed polymerase chain reaction' SubClassOf 'has specified output' some http://purl.obolibrary.org/obo/OBI_0000047 http://purl.obolibrary.org/obo/MONDO_0010788 Leber hereditary optic neuropathy 'Leber hereditary optic neuropathy' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0020119 X-linked syndromic intellectual disability 'X-linked syndromic intellectual disability' SubClassOf 'syndromic intellectual disability' 'X-linked syndromic intellectual disability' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010785 maternally-inherited diabetes and deafness 'maternally-inherited diabetes and deafness' SubClassOf 'monogenic diabetes' 'maternally-inherited diabetes and deafness' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0010790 MERRF syndrome 'MERRF syndrome' SubClassOf 'progressive myoclonus epilepsy' 'MERRF syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0019123 continuous spikes and waves during sleep 'continuous spikes and waves during sleep' SubClassOf 'Landau-Kleffner syndrome' 'continuous spikes and waves during sleep' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome 'familial long QT syndrome' SubClassOf 'congenital heart disease' 'familial long QT syndrome' SubClassOf 'cardiogenetic disease' 'familial long QT syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019177 odontoleukodystrophy 'odontoleukodystrophy' SubClassOf 'leukodystrophy' 'odontoleukodystrophy' SubClassOf 'leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome' http://purl.obolibrary.org/obo/MONDO_0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome 'hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome' SubClassOf 'myopathy, proximal, and ophthalmoplegia' 'hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome' SubClassOf 'myopathy, proximal, and ophthalmoplegia' 'hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0019187 Axenfeld-Rieger syndrome 'Axenfeld-Rieger syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100581 http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome 'Rubinstein-Taybi syndrome' SubClassOf 'syndromic intellectual disability' 'Rubinstein-Taybi syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'Rubinstein-Taybi syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://www.ebi.ac.uk/efo/EFO_1001347 Herpes Labialis 'Herpes Labialis' SubClassOf 'Herpesviridae infectious disease' 'Herpes Labialis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001366 mastodynia 'mastodynia' SubClassOf 'pain' 'mastodynia' SubClassOf 'Pain' http://www.ebi.ac.uk/efo/EFO_1001370 metatarsalgia 'metatarsalgia' SubClassOf 'pain' 'metatarsalgia' SubClassOf 'Pain' http://purl.obolibrary.org/obo/MONDO_0010622 recessive X-linked ichthyosis 'recessive X-linked ichthyosis' SubClassOf 'inherited ichthyosis' 'recessive X-linked ichthyosis' SubClassOf 'inherited ichthyosis' http://purl.obolibrary.org/obo/MONDO_0010650 Melnick-Needles syndrome 'Melnick-Needles syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010654 Partington syndrome 'Partington syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Partington syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010653 Renpenning syndrome 'Renpenning syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Renpenning syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010667 Prieto syndrome 'Prieto syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Prieto syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010668 skeletal dysplasia-intellectual disability syndrome 'skeletal dysplasia-intellectual disability syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'skeletal dysplasia-intellectual disability syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010665 Wilson-Turner syndrome 'Wilson-Turner syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Wilson-Turner syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010679 Duchenne muscular dystrophy 'Duchenne muscular dystrophy' SubClassOf 'muscular dystrophy' 'Duchenne muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700285 http://purl.obolibrary.org/obo/MONDO_0009696 juvenile myoclonic epilepsy 'juvenile myoclonic epilepsy' SubClassOf 'generalised epilepsy' 'juvenile myoclonic epilepsy' SubClassOf 'myoclonic epilepsy' 'juvenile myoclonic epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800487 http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta 'osteogenesis imperfecta' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/OBI_0000711 library preparation 'library preparation' SubClassOf 'has specified output' some http://purl.obolibrary.org/obo/OBI_0000047 http://purl.obolibrary.org/obo/HP_0003269 Sudanophilic leukodystrophy 'Sudanophilic leukodystrophy' SubClassOf 'Morphological central nervous system abnormality' 'Sudanophilic leukodystrophy' SubClassOf 'Abnormal myelination' 'Sudanophilic leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/HP_0011400 http://purl.obolibrary.org/obo/MONDO_0020073 adolescent-onset epilepsy syndrome 'adolescent-onset epilepsy syndrome' SubClassOf 'epilepsy syndrome' 'adolescent-onset epilepsy syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020074 progressive myoclonus epilepsy 'progressive myoclonus epilepsy' SubClassOf 'variable age onset epilepsy' 'progressive myoclonus epilepsy' SubClassOf 'childhood-onset epilepsy syndrome' 'progressive myoclonus epilepsy' SubClassOf 'adolescent-onset epilepsy syndrome' 'progressive myoclonus epilepsy' SubClassOf 'myoclonic epilepsy' 'progressive myoclonus epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800495 http://www.ebi.ac.uk/efo/EFO_1001412 renal colic 'renal colic' SubClassOf 'pain' 'renal colic' SubClassOf 'Pain' http://purl.obolibrary.org/obo/MONDO_0010504 immunodeficiency 47 'immunodeficiency 47' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001411 Radiation Pneumonitis 'Radiation Pneumonitis' SubClassOf 'pneumonitis' 'Radiation Pneumonitis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0010500 intellectual disability, X-linked, syndromic 33 'intellectual disability, X-linked, syndromic 33' SubClassOf 'X-linked syndromic intellectual disability' 'intellectual disability, X-linked, syndromic 33' SubClassOf 'X-linked syndromic intellectual disability' 'intellectual disability, X-linked, syndromic 33' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability, X-linked, syndromic 33' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010537 Borjeson-Forssman-Lehmann syndrome 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010539 X-linked mandibulofacial dysostosis 'X-linked mandibulofacial dysostosis' SubClassOf 'hereditary otorhinolaryngologic disease' http://purl.obolibrary.org/obo/OBI_0000869 polyA RNA extract polyA RNA 'polyA RNA extract' SubClassOf http://purl.obolibrary.org/obo/OBI_0000047 http://purl.obolibrary.org/obo/MONDO_0010542 dilated cardiomyopathy 3B 'dilated cardiomyopathy 3B' SubClassOf 'qualitative or quantitative defects of dystrophin' 'dilated cardiomyopathy 3B' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 3B' SubClassOf 'familial isolated dilated cardiomyopathy' 'dilated cardiomyopathy 3B' SubClassOf 'qualitative or quantitative defects of dystrophin' http://purl.obolibrary.org/obo/MONDO_0010561 Coffin-Lowry syndrome 'Coffin-Lowry syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Coffin-Lowry syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009588 Langer mesomelic dysplasia 'Langer mesomelic dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 'metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009597 metaphyseal chondrodysplasia, Spahr type 'metaphyseal chondrodysplasia, Spahr type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009594 metaphyseal chondrodysplasia, Kaitila type 'metaphyseal chondrodysplasia, Kaitila type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010592 focal dermal hypoplasia 'focal dermal hypoplasia' SubClassOf 'X-linked syndromic intellectual disability' 'focal dermal hypoplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010598 glycogen storage disease IXa1 'glycogen storage disease IXa1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700291 http://www.ebi.ac.uk/efo/EFO_1001110 pituitary-dependent Cushing's disease 'pituitary-dependent Cushing's disease' SubClassOf 'Cushing syndrome' 'pituitary-dependent Cushing's disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0957431 http://purl.obolibrary.org/obo/OBI_0000049 mass spectrometer 'mass spectrometer' SubClassOf http://purl.obolibrary.org/obo/OBI_0000968 http://www.ebi.ac.uk/efo/EFO_1001146 reflex epilepsy 'reflex epilepsy' SubClassOf 'variable age onset epilepsy' 'reflex epilepsy' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0009406 hypertrichotic osteochondrodysplasia Cantu type 'hypertrichotic osteochondrodysplasia Cantu type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010431 Joubert syndrome 10 'Joubert syndrome 10' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040039 http://purl.obolibrary.org/obo/MONDO_0009453 immune deficiency disease 'immune deficiency disease' SubClassOf 'immune system disease' 'immune deficiency disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0003473 Fatigable weakness 'Fatigable weakness' SubClassOf 'Abnormal nervous system physiology' 'Fatigable weakness' SubClassOf http://purl.obolibrary.org/obo/HP_0012535 http://purl.obolibrary.org/obo/MONDO_0010457 Ogden syndrome 'Ogden syndrome' SubClassOf 'progeroid syndrome' 'Ogden syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0009465 multiple intestinal atresia 'multiple intestinal atresia' SubClassOf 'autosomal recessive disease' 'multiple intestinal atresia' SubClassOf 'intestinal atresia' http://purl.obolibrary.org/obo/MONDO_0009498 lethal Kniest-like dysplasia 'lethal Kniest-like dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency 'anemia, nonspherocytic hemolytic, due to G6PD deficiency' SubClassOf 'glucosephosphate dehydrogenase deficiency' http://www.ebi.ac.uk/efo/EFO_1001060 neovascular glaucoma 'neovascular glaucoma' SubClassOf 'glaucoma' 'neovascular glaucoma' SubClassOf 'angle-closure glaucoma' http://purl.obolibrary.org/obo/GO_0008104 protein localization 'protein localization' SubClassOf 'cellular localization' 'protein localization' SubClassOf 'biological_process' http://www.ebi.ac.uk/efo/EFO_1001254 noise-induced hearing loss 'noise-induced hearing loss' SubClassOf 'hereditary neurological disease' 'noise-induced hearing loss' SubClassOf 'inherited auditory system disease' http://purl.obolibrary.org/obo/HP_0003429 CNS hypomyelination 'CNS hypomyelination' SubClassOf 'Abnormal myelination' 'CNS hypomyelination' SubClassOf 'Morphological central nervous system abnormality' 'CNS hypomyelination' SubClassOf http://purl.obolibrary.org/obo/HP_0011400 http://purl.obolibrary.org/obo/HP_0003438 Absent Achilles reflex 'Absent Achilles reflex' SubClassOf 'Reduced tendon reflexes' 'Absent Achilles reflex' SubClassOf 'Abnormality of the lower limb' 'Absent Achilles reflex' SubClassOf http://purl.obolibrary.org/obo/HP_0002522 http://purl.obolibrary.org/obo/MONDO_0000941 eyelid degenerative disorder 'eyelid degenerative disorder' SubClassOf 'eye degenerative disorder' 'eyelid degenerative disorder' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/HP_0003418 Back pain 'Back pain' SubClassOf 'pain' http://purl.obolibrary.org/obo/MONDO_0009318 Hallermann-Streiff syndrome 'Hallermann-Streiff syndrome' SubClassOf 'premature aging syndrome' http://purl.obolibrary.org/obo/MONDO_0010311 Becker muscular dystrophy 'Becker muscular dystrophy' SubClassOf 'muscular dystrophy' 'Becker muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700285 http://purl.obolibrary.org/obo/MONDO_0009338 hepatic veno-occlusive disease-immunodeficiency syndrome 'hepatic veno-occlusive disease-immunodeficiency syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency 'non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'familial hemolytic anemia' 'non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'congenital nonspherocytic hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0010320 retinitis pigmentosa 23 'retinitis pigmentosa 23' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040039 'retinitis pigmentosa 23' SubClassOf 'retinal ciliopathy' http://purl.obolibrary.org/obo/MONDO_0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 'epilepsy, X-linked 1, with variable learning disabilities and behavior disorders' SubClassOf 'X-linked syndromic intellectual disability' 'epilepsy, X-linked 1, with variable learning disabilities and behavior disorders' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0009341 Mowat-Wilson syndrome 'Mowat-Wilson syndrome' SubClassOf 'hereditary neurological disease' 'Mowat-Wilson syndrome' SubClassOf 'syndromic intellectual disability' 'Mowat-Wilson syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010354 Allan-Herndon-Dudley syndrome 'Allan-Herndon-Dudley syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Allan-Herndon-Dudley syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001167 scimitar syndrome 'scimitar syndrome' SubClassOf 'syndromic disease' 'scimitar syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100614 http://purl.obolibrary.org/obo/MONDO_0010396 developmental and epileptic encephalopathy, 2 'developmental and epileptic encephalopathy, 2' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 2' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/HP_0003720 Generalized muscle hypertrophy 'Generalized muscle hypertrophy' SubClassOf 'Abnormality of muscle size' 'Generalized muscle hypertrophy' SubClassOf http://purl.obolibrary.org/obo/HP_0003712 http://www.orpha.net/ORDO/Orphanet_100 Ataxia-telangiectasia 'Ataxia-telangiectasia' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_167 Chédiak-Higashi syndrome 'Chédiak-Higashi syndrome' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0010220 Young syndrome 'Young syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0024878 secondary carcinoma 'secondary carcinoma' SubClassOf 'carcinoma' 'secondary carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0009259 gamma-glutamylcysteine synthetase deficiency 'gamma-glutamylcysteine synthetase deficiency' SubClassOf 'anemia due to enzyme disorder' 'gamma-glutamylcysteine synthetase deficiency' SubClassOf 'congenital nonspherocytic hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0010258 MEHMO syndrome 'MEHMO syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'MEHMO syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009284 glutathione synthetase deficiency without 5-oxoprolinuria 'glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf 'congenital nonspherocytic hemolytic anemia' 'glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf 'anemia due to enzyme disorder' http://purl.obolibrary.org/obo/MONDO_0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 'optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome' SubClassOf 'mitochondrial disease' 'optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060116 http://purl.obolibrary.org/obo/MONDO_0034099 SYNGAP1-related developmental and epileptic encephalopathy 'SYNGAP1-related developmental and epileptic encephalopathy' SubClassOf 'infantile epilepsy syndrome' 'SYNGAP1-related developmental and epileptic encephalopathy' SubClassOf 'hereditary neurological disease' 'SYNGAP1-related developmental and epileptic encephalopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001010 Landau-Kleffner syndrome 'Landau-Kleffner syndrome' SubClassOf 'childhood electroclinical syndrome' 'Landau-Kleffner syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060139 http://purl.obolibrary.org/obo/MONDO_0000774 autoimmune neuropathy 'autoimmune neuropathy' SubClassOf 'autoimmune disorder of peripheral nervous system' 'autoimmune neuropathy' SubClassOf 'autoimmune disorder of peripheral nervous system' http://purl.obolibrary.org/obo/MONDO_0009107 diastrophic dysplasia 'diastrophic dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100592 http://purl.obolibrary.org/obo/MONDO_0010100 Tay-Sachs disease 'Tay-Sachs disease' SubClassOf 'eye degenerative disorder' 'Tay-Sachs disease' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0009140 Silverman-Handmaker type dyssegmental dysplasia 'Silverman-Handmaker type dyssegmental dysplasia' SubClassOf 'qualitative or quantitative defects of perlecan' 'Silverman-Handmaker type dyssegmental dysplasia' SubClassOf 'qualitative or quantitative defects of perlecan' http://purl.obolibrary.org/obo/MONDO_0009145 SchC6pf-Schulz-Passarge syndrome 'SchC6pf-Schulz-Passarge syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'SchC6pf-Schulz-Passarge syndrome' SubClassOf 'autosomal recessive disease' 'SchC6pf-Schulz-Passarge syndrome' SubClassOf 'ectodermal dysplasia WNT10A related' http://purl.obolibrary.org/obo/MONDO_0009159 Ehlers-Danlos syndrome, cardiac valvular type 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100606 http://purl.obolibrary.org/obo/MONDO_0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060109 http://purl.obolibrary.org/obo/MONDO_0009189 multiple epiphyseal dysplasia type 4 'multiple epiphyseal dysplasia type 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100592 http://purl.obolibrary.org/obo/MONDO_0010196 Werner syndrome 'Werner syndrome' SubClassOf 'progeroid syndrome' 'Werner syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0019943 hereditary continuous muscle fiber activity 'hereditary continuous muscle fiber activity' SubClassOf 'hereditary skeletal muscle disorder' http://purl.obolibrary.org/obo/HP_0003805 Rimmed vacuoles 'Rimmed vacuoles' SubClassOf 'Abnormal skeletal muscle morphology' 'Rimmed vacuoles' SubClassOf http://purl.obolibrary.org/obo/HP_0004303 http://purl.obolibrary.org/obo/MONDO_0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 'mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5' SubClassOf 'mitochondrial complex deficiency' 'mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5' SubClassOf 'mitochondrial complex deficiency' http://purl.obolibrary.org/obo/MONDO_0030263 leukodystrophy, hypomyelinating, 21 'leukodystrophy, hypomyelinating, 21' SubClassOf 'leukodystrophy' 'leukodystrophy, hypomyelinating, 21' SubClassOf 'POLR3-related leukodystrophy' http://www.orpha.net/ORDO/Orphanet_93955 Benign essential blepharospasm 'Benign essential blepharospasm' SubClassOf 'Rare genetic dystonia' 'Benign essential blepharospasm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_352709 CLN13 disease 'CLN13 disease' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0019702 neonatal osteosclerotic dysplasia 'neonatal osteosclerotic dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0020735 ACTH-independent macronodular adrenal hyperplasia 1 'ACTH-independent macronodular adrenal hyperplasia 1' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0020732 progeria 'progeria' SubClassOf 'progeroid syndrome' 'progeria' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019797 acrodysostosis 'acrodysostosis' SubClassOf 'hereditary otorhinolaryngologic disease' 'acrodysostosis' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/CL_0000312 keratinocyte 'keratinocyte' SubClassOf 'epidermal cell' http://purl.obolibrary.org/obo/MONDO_0020698 inborn error of biotin metabolism 'inborn error of biotin metabolism' SubClassOf 'nutritional biotin deficiency' 'inborn error of biotin metabolism' SubClassOf 'vitamin metabolic disorder' 'inborn error of biotin metabolism' SubClassOf 'biotin metabolic disease' http://purl.obolibrary.org/obo/MONDO_0019696 acromesomelic dysplasia 'acromesomelic dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0030038 glaucoma, primary closed-angle 'glaucoma, primary closed-angle' SubClassOf 'genetic disorder' 'glaucoma, primary closed-angle' SubClassOf 'hereditary glaucoma' 'glaucoma, primary closed-angle' SubClassOf 'primary angle closure glaucoma' http://purl.obolibrary.org/obo/MONDO_0030028 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline 'neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline' SubClassOf 'genetic disorder' 'neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline' SubClassOf 'inherited neurodegenerative disorder' http://www.ebi.ac.uk/efo/EFO_1001900 myoclonic epilepsy 'myoclonic epilepsy' SubClassOf 'epilepsy' 'myoclonic epilepsy' SubClassOf 'epilepsy syndrome' http://www.ebi.ac.uk/efo/EFO_1001919 Spinal cord injury 'Spinal cord injury' SubClassOf 'nervous system injury' 'Spinal cord injury' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0044699 SIN3A-related intellectual disability syndrome 'SIN3A-related intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'SIN3A-related intellectual disability syndrome' SubClassOf 'hereditary neurological disease' 'SIN3A-related intellectual disability syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://www.orpha.net/ORDO/Orphanet_240071 Classical progressive supranuclear palsy 'Classical progressive supranuclear palsy' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0019502 autosomal recessive non-syndromic intellectual disability 'autosomal recessive non-syndromic intellectual disability' SubClassOf 'autosomal recessive disease' 'autosomal recessive non-syndromic intellectual disability' SubClassOf 'hereditary neurological disease' 'autosomal recessive non-syndromic intellectual disability' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100597 http://purl.obolibrary.org/obo/MONDO_0019531 hemolytic anemia due to glutathione reductase deficiency 'hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'familial hemolytic anemia' 'hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'congenital nonspherocytic hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0020521 Ehlers-Danlos syndrome type 7A 'Ehlers-Danlos syndrome type 7A' SubClassOf 'Ehlers-Danlos syndrome, arthrochalasia type' 'Ehlers-Danlos syndrome type 7A' SubClassOf 'Ehlers-Danlos syndrome, arthrochalasia type' 'Ehlers-Danlos syndrome type 7A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100599 http://purl.obolibrary.org/obo/MONDO_0020529 ACTH-independent Cushing syndrome 'ACTH-independent Cushing syndrome' SubClassOf 'Cushing syndrome' 'ACTH-independent Cushing syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0957431 http://purl.obolibrary.org/obo/MONDO_0020522 Ehlers-Danlos syndrome type 7B 'Ehlers-Danlos syndrome type 7B' SubClassOf 'Ehlers-Danlos syndrome, arthrochalasia type' 'Ehlers-Danlos syndrome type 7B' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_773 Refsum disease 'Refsum disease' SubClassOf 'eye degenerative disorder' http://www.ebi.ac.uk/efo/EFO_0001195 IMR-32 'IMR-32' SubClassOf 'Homo sapiens cell line' http://www.orpha.net/ORDO/Orphanet_726 Alpers syndrome 'Alpers syndrome' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/CL_0000570 parafollicular cell 'parafollicular cell' SubClassOf 'secretory cell' 'parafollicular cell' SubClassOf 'endocrine cell' http://www.ebi.ac.uk/efo/EFO_1001758 ageusia 'ageusia' SubClassOf 'Abnormality of taste sensation' 'ageusia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001757 Adenomyosis 'Adenomyosis' SubClassOf 'ovarian neoplasm' 'Adenomyosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019428 fried syndrome 'fried syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'fried syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020435 atrial septal defect, coronary sinus type 'atrial septal defect, coronary sinus type' SubClassOf 'syndromic disease' 'atrial septal defect, coronary sinus type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100614 http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonic epilepsy 'benign adult familial myoclonic epilepsy' SubClassOf 'adolescent-onset epilepsy syndrome' http://purl.obolibrary.org/obo/OBI_1000023 cell culture supernatant 'cell culture supernatant' SubClassOf http://purl.obolibrary.org/obo/OBI_0000047 http://purl.obolibrary.org/obo/MONDO_0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction 'hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'familial hemolytic anemia' 'hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'congenital nonspherocytic hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0019488 myoclonic epilepsy in non-progressive encephalopathies 'myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'infantile epilepsy syndrome' 'myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'myoclonic epilepsy' http://purl.obolibrary.org/obo/MONDO_0019487 epilepsy with myoclonic absences 'epilepsy with myoclonic absences' SubClassOf 'childhood-onset epilepsy syndrome' 'epilepsy with myoclonic absences' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800498 http://purl.obolibrary.org/obo/MONDO_0019485 idiopathic hemiconvulsion-hemiplegia syndrome 'idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'childhood-onset epilepsy syndrome' 'idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800500 http://purl.obolibrary.org/obo/MONDO_0020485 King-Denborough syndrome 'King-Denborough syndrome' SubClassOf 'disease shares features of' some 'Noonan syndrome' 'King-Denborough syndrome' SubClassOf 'congenital nervous system disorder' 'King-Denborough syndrome' SubClassOf 'hereditary neurological disease' 'King-Denborough syndrome' SubClassOf 'disease shares features of' some 'Noonan syndrome' http://purl.obolibrary.org/obo/MONDO_0009910 Wiedemann-Rautenstrauch syndrome 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'progeria' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0010939 low phospholipid associated cholelithiasis 'low phospholipid associated cholelithiasis' SubClassOf 'disease has inflammation site' some 'gallbladder' 'low phospholipid associated cholelithiasis' SubClassOf 'cholangitis' 'low phospholipid associated cholelithiasis' SubClassOf 'cholelithiasis' http://purl.obolibrary.org/obo/MONDO_0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 'hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'familial hemolytic anemia' 'hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'congenital nonspherocytic hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0009943 Pyle disease 'Pyle disease' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009942 pyknoachondrogenesis 'pyknoachondrogenesis' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009964 short-rib thoracic dysplasia 9 with or without polydactyly 'short-rib thoracic dysplasia 9 with or without polydactyly' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0010966 achondrogenesis type IB 'achondrogenesis type IB' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100592 http://purl.obolibrary.org/obo/MONDO_0010979 Timothy syndrome 'Timothy syndrome' SubClassOf 'familial long QT syndrome' 'Timothy syndrome' SubClassOf 'familial long QT syndrome' http://purl.obolibrary.org/obo/MONDO_0020310 familial focal epilepsy with variable foci 'familial focal epilepsy with variable foci' SubClassOf 'variable age onset epilepsy' 'familial focal epilepsy with variable foci' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800492 http://purl.obolibrary.org/obo/MONDO_0020308 childhood occipital visual epilepsy 'childhood occipital visual epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800502 http://purl.obolibrary.org/obo/MONDO_0020307 self-limited epilepsy with autonomic seizures 'self-limited epilepsy with autonomic seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800502 http://purl.obolibrary.org/obo/MONDO_0044300 familial adenomatous polyposis 4 'familial adenomatous polyposis 4' SubClassOf 'attenuated familial adenomatous polyposis' 'familial adenomatous polyposis 4' SubClassOf 'classic familial adenomatous polyposis' 'familial adenomatous polyposis 4' SubClassOf 'classic or attenuated familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 'intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies' SubClassOf 'hereditary neurological disease' 'intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies' SubClassOf 'syndromic intellectual disability' 'intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100598 http://purl.obolibrary.org/obo/MONDO_0044318 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 'intellectual developmental disorder with gastrointestinal difficulties and high pain threshold' SubClassOf 'syndromic intellectual disability' 'intellectual developmental disorder with gastrointestinal difficulties and high pain threshold' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0019353 Stargardt disease 'Stargardt disease' SubClassOf 'age-related macular degeneration' 'Stargardt disease' SubClassOf 'macular degeneration' http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia 'Fanconi anemia' SubClassOf 'congenital limb malformation' http://www.ebi.ac.uk/efo/EFO_1001808 manganese poisoning 'manganese poisoning' SubClassOf 'toxic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0044322 intellectual developmental disorder with neuropsychiatric features 'intellectual developmental disorder with neuropsychiatric features' SubClassOf 'hereditary neurological disease' 'intellectual developmental disorder with neuropsychiatric features' SubClassOf 'syndromic intellectual disability' 'intellectual developmental disorder with neuropsychiatric features' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100598 http://purl.obolibrary.org/obo/MONDO_0044324 Al Kaissi syndrome 'Al Kaissi syndrome' SubClassOf 'syndromic intellectual disability' 'Al Kaissi syndrome' SubClassOf 'hereditary neurological disease' 'Al Kaissi syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100598 http://purl.obolibrary.org/obo/MONDO_0020380 autosomal dominant cerebellar ataxia 'autosomal dominant cerebellar ataxia' SubClassOf 'inherited neurodegenerative disorder' 'autosomal dominant cerebellar ataxia' SubClassOf 'cerebellar degeneration' http://www.ebi.ac.uk/efo/EFO_1001824 pinguecula 'pinguecula' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100581 http://purl.obolibrary.org/obo/GO_0003845 11-beta-hydroxysteroid dehydrogenase [NAD(P)+] activity '11-beta-hydroxysteroid dehydrogenase [NAD(P)+] activity' SubClassOf 'catalytic activity' '11-beta-hydroxysteroid dehydrogenase [NAD(P)+] activity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015737 typical nemaline myopathy 'typical nemaline myopathy' SubClassOf 'congenital nervous system disorder' 'typical nemaline myopathy' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015736 intermediate nemaline myopathy 'intermediate nemaline myopathy' SubClassOf 'congenital nervous system disorder' 'intermediate nemaline myopathy' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015735 severe congenital nemaline myopathy 'severe congenital nemaline myopathy' SubClassOf 'congenital nervous system disorder' 'severe congenital nemaline myopathy' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0001104 toxic diffuse goiter 'toxic diffuse goiter' SubClassOf 'goiter' http://purl.obolibrary.org/obo/MONDO_0015541 hereditary hemophagocytic lymphohistiocytosis 'hereditary hemophagocytic lymphohistiocytosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/CL_0000031 neuroblast (sensu Vertebrata) 'neuroblast (sensu Vertebrata)' SubClassOf 'non-terminally differentiated cell' 'neuroblast (sensu Vertebrata)' SubClassOf 'cell' http://purl.obolibrary.org/obo/CL_0000055 non-terminally differentiated cell 'non-terminally differentiated cell' SubClassOf 'cell' 'non-terminally differentiated cell' SubClassOf 'cell type' 'non-terminally differentiated cell' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CL_0000056 myoblast 'myoblast' SubClassOf 'non-terminally differentiated cell' http://purl.obolibrary.org/obo/CL_0000062 osteoblast 'osteoblast' SubClassOf 'non-terminally differentiated cell' 'osteoblast' SubClassOf 'cell type' 'osteoblast' SubClassOf 'cell' http://purl.obolibrary.org/obo/MONDO_0015422 orofaciodigital syndrome type 13 'orofaciodigital syndrome type 13' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome type 13' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015426 Desbuquois dysplasia 'Desbuquois dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015486 keratoconus 'keratoconus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100581 http://purl.obolibrary.org/obo/MONDO_0015483 mandibulofacial dysostosis 'mandibulofacial dysostosis' SubClassOf 'otorhinolaryngologic disease' 'mandibulofacial dysostosis' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0015515 carnitine palmitoyltransferase II deficiency 'carnitine palmitoyltransferase II deficiency' SubClassOf 'disorder of carnitine cycle and carnitine transport' 'carnitine palmitoyltransferase II deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700284 http://purl.obolibrary.org/obo/MONDO_0030937 mitochondrial complex 2 deficiency, nuclear type 3 'mitochondrial complex 2 deficiency, nuclear type 3' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 'neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities' SubClassOf 'genetic disorder' 'neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0030974 mitochondrial complex 2 deficiency, nuclear type 4 'mitochondrial complex 2 deficiency, nuclear type 4' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0015333 progeroid syndrome 'progeroid syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015346 epilepsy with eyelid myoclonia 'epilepsy with eyelid myoclonia' SubClassOf 'childhood-onset epilepsy syndrome' 'epilepsy with eyelid myoclonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800498 http://purl.obolibrary.org/obo/MONDO_0030831 gastrointestinal defect and immunodeficiency syndrome 'gastrointestinal defect and immunodeficiency syndrome' SubClassOf 'multiple intestinal atresia' http://purl.obolibrary.org/obo/MONDO_0030855 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 'combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100606 http://purl.obolibrary.org/obo/MONDO_0030854 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 'combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100599 http://purl.obolibrary.org/obo/MONDO_0015236 aortic arch defects 'aortic arch defects' SubClassOf 'branchial arch disease' http://purl.obolibrary.org/obo/MONDO_0015238 arrhinia-choanal atresia-microphthalmia syndrome 'arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0030887 cardiomyopathy, dilated, 2G 'cardiomyopathy, dilated, 2G' SubClassOf 'familial dilated cardiomyopathy' 'cardiomyopathy, dilated, 2G' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0030880 mandibuloacral dysplasia progeroid syndrome 'mandibuloacral dysplasia progeroid syndrome' SubClassOf 'genetic disorder' 'mandibuloacral dysplasia progeroid syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/HP_0008245 Pituitary hypothyroidism 'Pituitary hypothyroidism' SubClassOf 'Abnormality of thyroid physiology' 'Pituitary hypothyroidism' SubClassOf http://purl.obolibrary.org/obo/HP_0011787 http://purl.obolibrary.org/obo/MONDO_0030727 developmental and epileptic encephalopathy 101 'developmental and epileptic encephalopathy 101' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060123 http://purl.obolibrary.org/obo/MONDO_0030634 leukoencephalopathy, hereditary diffuse, with spheroids 2 'leukoencephalopathy, hereditary diffuse, with spheroids 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_1010132 http://purl.obolibrary.org/obo/MONDO_0030697 myopia 28, autosomal recessive 'myopia 28, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100581 http://purl.obolibrary.org/obo/MONDO_0030696 mitochondrial DNA depletion syndrome 20 (mngie type) 'mitochondrial DNA depletion syndrome 20 (mngie type)' SubClassOf 'mitochondrial neurogastrointestinal encephalomyopathy' http://purl.obolibrary.org/obo/MONDO_0015069 neuroendocrine tumor of the anal canal 'neuroendocrine tumor of the anal canal' SubClassOf 'rectal neuroendocrine tumor' 'neuroendocrine tumor of the anal canal' SubClassOf 'anal canal neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0030680 cardiomyopathy, dilated, 2F 'cardiomyopathy, dilated, 2F' SubClassOf 'familial dilated cardiomyopathy' 'cardiomyopathy, dilated, 2F' SubClassOf 'familial isolated dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0030517 trichothiodystrophy 8, nonphotosensitive 'trichothiodystrophy 8, nonphotosensitive' SubClassOf http://purl.obolibrary.org/obo/MONDO_1010132 http://purl.obolibrary.org/obo/MONDO_0011323 arhinia, choanal atresia, and microphthalmia 'arhinia, choanal atresia, and microphthalmia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0008770 Obsessive-compulsive trait 'Obsessive-compulsive trait' SubClassOf 'Atypical behavior' 'Obsessive-compulsive trait' SubClassOf http://purl.obolibrary.org/obo/HP_0000722 http://purl.obolibrary.org/obo/MONDO_0011174 hyperzincemia with functional zinc depletion 'hyperzincemia with functional zinc depletion' SubClassOf 'genetic disorder' 'hyperzincemia with functional zinc depletion' SubClassOf 'disorder of zinc metabolism' http://purl.obolibrary.org/obo/HP_0008625 Severe sensorineural hearing impairment 'Severe sensorineural hearing impairment' SubClassOf http://purl.obolibrary.org/obo/HP_0012714 http://purl.obolibrary.org/obo/MONDO_0011213 Pierpont syndrome 'Pierpont syndrome' SubClassOf 'syndromic intellectual disability' 'Pierpont syndrome' SubClassOf 'hereditary neurological disease' 'Pierpont syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0970994 immunodeficiency 120 'immunodeficiency 120' SubClassOf 'immunodeficiency disease' 'immunodeficiency 120' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800145 http://purl.obolibrary.org/obo/GO_0042360 vitamin E metabolic process 'vitamin E metabolic process' SubClassOf 'vitamin metabolic process' 'vitamin E metabolic process' SubClassOf 'metabolic process' http://purl.obolibrary.org/obo/MONDO_0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome 'mandibulofacial dysostosis-macroblepharon-macrostomia syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0011283 mitochondrial DNA depletion syndrome 1 'mitochondrial DNA depletion syndrome 1' SubClassOf 'mitochondrial neurogastrointestinal encephalomyopathy' http://purl.obolibrary.org/obo/MONDO_0011053 intellectual disability-sparse hair-brachydactyly syndrome 'intellectual disability-sparse hair-brachydactyly syndrome' SubClassOf 'hereditary neurological disease' 'intellectual disability-sparse hair-brachydactyly syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-sparse hair-brachydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100601 http://purl.obolibrary.org/obo/MONDO_0011064 lethal chondrodysplasia, Seller type 'lethal chondrodysplasia, Seller type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011076 myofibrillar myopathy 1 'myofibrillar myopathy 1' SubClassOf 'qualitative or quantitative defects of desmin' 'myofibrillar myopathy 1' SubClassOf 'familial dilated cardiomyopathy' 'myofibrillar myopathy 1' SubClassOf 'qualitative or quantitative defects of desmin' 'myofibrillar myopathy 1' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0001703 color vision disorder 'color vision disorder' SubClassOf 'blindness (disorder)' 'color vision disorder' SubClassOf 'disease has basis in dysfunction of' some 'retinal cone cell' 'color vision disorder' SubClassOf 'vision disorder' 'color vision disorder' SubClassOf 'disease has basis in dysfunction of' some 'retinal cone cell' http://purl.obolibrary.org/obo/HP_0008981 Calf muscle hypertrophy 'Calf muscle hypertrophy' SubClassOf 'Abnormality of muscle size' 'Calf muscle hypertrophy' SubClassOf http://purl.obolibrary.org/obo/HP_0003712 http://purl.obolibrary.org/obo/MONDO_0035122 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder 'GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060138 http://purl.obolibrary.org/obo/MONDO_0001650 acute cystitis 'acute cystitis' SubClassOf 'cystitis' 'acute cystitis' SubClassOf 'cystitis' http://purl.obolibrary.org/obo/MONDO_0011003 dilated cardiomyopathy 1E 'dilated cardiomyopathy 1E' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1E' SubClassOf 'familial isolated dilated cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_64753 Spinocerebellar ataxia with axonal neuropathy type 2 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/OBI_0000924 labeled specimen 'labeled specimen' SubClassOf http://purl.obolibrary.org/obo/OBI_0000047 http://purl.obolibrary.org/obo/MONDO_0049221 myopia 26, X-linked, female-limited 'myopia 26, X-linked, female-limited' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100581 http://purl.obolibrary.org/obo/MONDO_0001347 facioscapulohumeral muscular dystrophy 'facioscapulohumeral muscular dystrophy' SubClassOf 'telomere syndrome' http://purl.obolibrary.org/obo/HP_0004411 Deviated nasal septum 'Deviated nasal septum' SubClassOf 'Abnormality of the nose' http://purl.obolibrary.org/obo/MONDO_0021571 multiple sclerosis, susceptibility to 1 'multiple sclerosis, susceptibility to 1' SubClassOf 'multiple sclerosis, susceptibility to' http://purl.obolibrary.org/obo/HP_0004305 Involuntary movements 'Involuntary movements' SubClassOf 'Abnormality of movement' 'Involuntary movements' SubClassOf 'Abnormal central motor function' http://purl.obolibrary.org/obo/HP_0004303 Abnormal muscle fiber morphology 'Abnormal muscle fiber morphology' SubClassOf 'Abnormal skeletal muscle morphology' http://purl.obolibrary.org/obo/MONDO_0971178 polycystic kidney disease 8 'polycystic kidney disease 8' SubClassOf 'Autosomal dominant polycystic kidney disease' http://purl.obolibrary.org/obo/MONDO_0971176 ovarian dysgenesis 11 'ovarian dysgenesis 11' SubClassOf '46 XX gonadal dysgenesis' http://purl.obolibrary.org/obo/MONDO_0011931 ovarian cancer, susceptibility to, 1 'ovarian cancer, susceptibility to, 1' SubClassOf 'predisposes towards' some 'ovarian cancer' 'ovarian cancer, susceptibility to, 1' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/HP_0004626 Lumbar scoliosis 'Lumbar scoliosis' SubClassOf 'Thoracolumbar scoliosis' http://purl.obolibrary.org/obo/MONDO_0011963 Joubert syndrome 2 'Joubert syndrome 2' SubClassOf 'Joubert syndrome' 'Joubert syndrome 2' SubClassOf 'Joubert syndrome with oculorenal defect' http://purl.obolibrary.org/obo/MONDO_0035941 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) 'B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)' SubClassOf 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' http://purl.obolibrary.org/obo/MONDO_0971115 benign vascular tumor 'benign vascular tumor' SubClassOf 'vascular neoplasm' http://purl.obolibrary.org/obo/HP_0004488 Macrocephaly at birth 'Macrocephaly at birth' SubClassOf 'Macrocephaly' http://purl.obolibrary.org/obo/HP_0004484 Craniofacial asymmetry 'Craniofacial asymmetry' SubClassOf 'Abnormal facial skeleton morphology' 'Craniofacial asymmetry' SubClassOf 'Cranial asymmetry' 'Craniofacial asymmetry' SubClassOf 'Abnormal facial shape' http://purl.obolibrary.org/obo/MONDO_0800399 RP1-related recessive retinopathy 'RP1-related recessive retinopathy' SubClassOf 'inherited retinal dystrophy' 'RP1-related recessive retinopathy' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0800391 EYS-related retinopathy 'EYS-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/HP_0004845 Acute monocytic leukemia 'Acute monocytic leukemia' SubClassOf 'Abnormal leukocyte morphology' http://purl.obolibrary.org/obo/MONDO_0011709 split hand-foot malformation 5 'split hand-foot malformation 5' SubClassOf 'split hand-foot malformation' http://purl.obolibrary.org/obo/MONDO_0800326 cone-rod dystrophy 14 'cone-rod dystrophy 14' SubClassOf 'cone-rod dystrophy' http://purl.obolibrary.org/obo/MONDO_0800401 CERKL-related retinopathy 'CERKL-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0800405 CNGA1-related retinopathy 'CNGA1-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0800403 CNGB1-related retinopathy 'CNGB1-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0800496 epilepsy with auditory features 'epilepsy with auditory features' SubClassOf 'variable-age onset focal epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0800495 variable-age epilepsy syndrome with developmental and/or epileptic encephalopathy or progressive neurological deterioration 'variable-age epilepsy syndrome with developmental and/or epileptic encephalopathy or progressive neurological deterioration' SubClassOf 'variable age epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0800498 childhood-onset genetic generalized epilepsy syndrome 'childhood-onset genetic generalized epilepsy syndrome' SubClassOf 'childhood-onset epilepsy syndrome' 'childhood-onset genetic generalized epilepsy syndrome' SubClassOf 'genetic generalized epilepsy' http://purl.obolibrary.org/obo/MONDO_0800499 childhood-onset idiopathic generalized epilepsy syndrome 'childhood-onset idiopathic generalized epilepsy syndrome' SubClassOf 'generalised epilepsy' 'childhood-onset idiopathic generalized epilepsy syndrome' SubClassOf 'childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0800492 variable-age onset focal epilepsy syndrome 'variable-age onset focal epilepsy syndrome' SubClassOf 'variable age epilepsy syndrome' 'variable-age onset focal epilepsy syndrome' SubClassOf 'partial epilepsy' http://purl.obolibrary.org/obo/MONDO_0800490 neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy 'neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy' SubClassOf 'neonatal/infantile epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0800491 early-infantile DEE 'early-infantile DEE' SubClassOf 'neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy' 'early-infantile DEE' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0800487 variable-age onset idiopathic generalized epilepsy syndrome 'variable-age onset idiopathic generalized epilepsy syndrome' SubClassOf 'generalised epilepsy' 'variable-age onset idiopathic generalized epilepsy syndrome' SubClassOf 'variable age epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0800488 neonatal/infantile-onset self-limited epilepsy syndrome 'neonatal/infantile-onset self-limited epilepsy syndrome' SubClassOf 'neonatal/infantile epilepsy syndrome' http://purl.obolibrary.org/obo/HP_0004783 Duodenal polyposis 'Duodenal polyposis' SubClassOf 'Abnormal intestine morphology' http://purl.obolibrary.org/obo/MONDO_0800455 Birt-Hogg-Dube syndrome 2 'Birt-Hogg-Dube syndrome 2' SubClassOf 'Birt-Hogg-Dube syndrome' http://purl.obolibrary.org/obo/MONDO_0800472 CYP1B1-related glaucoma with or without anterior segment dysgenesis 'CYP1B1-related glaucoma with or without anterior segment dysgenesis' SubClassOf 'primary congenital glaucoma' http://purl.obolibrary.org/obo/HP_0004757 Paroxysmal atrial fibrillation 'Paroxysmal atrial fibrillation' SubClassOf 'Arrhythmia' http://purl.obolibrary.org/obo/MONDO_0800469 ACD-related telomere biology disorder 'ACD-related telomere biology disorder' SubClassOf 'telomere syndrome' 'ACD-related telomere biology disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0035642 mixed phenotype acute leukemia with t(v;11q23.3) 'mixed phenotype acute leukemia with t(v;11q23.3)' SubClassOf 'mixed phenotype acute leukemia' 'mixed phenotype acute leukemia with t(v;11q23.3)' SubClassOf 'inherited acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0800500 childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy 'childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy' SubClassOf 'childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0800502 childhood-onset self-limited focal epilepsy syndrome 'childhood-onset self-limited focal epilepsy syndrome' SubClassOf 'partial epilepsy' 'childhood-onset self-limited focal epilepsy syndrome' SubClassOf 'childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0035660 GNAO1-related developmental delay-seizures-movement disorder spectrum 'GNAO1-related developmental delay-seizures-movement disorder spectrum' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060629 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 'neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive' SubClassOf 'intellectual disability, autosomal recessive' 'neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive' SubClassOf 'GRIN1-related neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0800145 non-severe combined immunodeficiency due to polymerase delta deficiency 'non-severe combined immunodeficiency due to polymerase delta deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'non-severe combined immunodeficiency due to polymerase delta deficiency' SubClassOf 'has modifier' some 'Autosomal recessive inheritance' http://purl.obolibrary.org/obo/MONDO_0800102 CNGA3-related retinopathy 'CNGA3-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0035551 cathepsin a-related arteriopathy-strokes-leukoencephalopathy 'cathepsin a-related arteriopathy-strokes-leukoencephalopathy' SubClassOf 'cerebrovascular disorder' 'cathepsin a-related arteriopathy-strokes-leukoencephalopathy' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/HP_0004927 Pulmonary artery dilatation 'Pulmonary artery dilatation' SubClassOf 'Abnormal cardiovascular system morphology' 'Pulmonary artery dilatation' SubClassOf 'Abnormal lung morphology' 'Pulmonary artery dilatation' SubClassOf 'Abnormality of the vasculature' http://purl.obolibrary.org/obo/HP_0004944 Dilatation of the cerebral artery 'Dilatation of the cerebral artery' SubClassOf 'Vascular dilatation' 'Dilatation of the cerebral artery' SubClassOf 'Abnormal cerebral vascular morphology' http://purl.obolibrary.org/obo/HP_0004955 Generalized arterial tortuosity 'Generalized arterial tortuosity' SubClassOf 'Arterial tortuosity' http://purl.obolibrary.org/obo/HP_0004950 Peripheral arterial stenosis 'Peripheral arterial stenosis' SubClassOf 'Arterial stenosis' http://purl.obolibrary.org/obo/HP_0004900 Severe lactic acidosis 'Severe lactic acidosis' SubClassOf 'Lactic acidosis' http://purl.obolibrary.org/obo/HP_0004976 Knee dislocation 'Knee dislocation' SubClassOf 'Joint dislocation' 'Knee dislocation' SubClassOf 'Abnormality of the lower limb' http://purl.obolibrary.org/obo/MONDO_0011415 Leber congenital amaurosis 3 'Leber congenital amaurosis 3' SubClassOf 'Leber congenital amaurosis' 'Leber congenital amaurosis 3' SubClassOf 'SPATA7-related retinopathy' http://purl.obolibrary.org/obo/MONDO_0011473 Leber congenital amaurosis 5 'Leber congenital amaurosis 5' SubClassOf 'Leber congenital amaurosis' 'Leber congenital amaurosis 5' SubClassOf 'LCA5-related retinopathy' http://purl.obolibrary.org/obo/MONDO_0011498 schizophrenia 9 'schizophrenia 9' SubClassOf 'schizophrenia, susceptibility to' http://purl.obolibrary.org/obo/MONDO_0035459 idiopathic multidrug-resistant nephrotic syndrome 'idiopathic multidrug-resistant nephrotic syndrome' SubClassOf 'idiopathic nephrotic syndrome' 'idiopathic multidrug-resistant nephrotic syndrome' SubClassOf 'familial nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0006748 obsolete epilepsia partialis continua 'obsolete epilepsia partialis continua' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0975798 methylmalonic aciduria and homocystinuria, cb1L type 'methylmalonic aciduria and homocystinuria, cb1L type' SubClassOf 'methylmalonic aciduria and homocystinuria' http://purl.obolibrary.org/obo/MONDO_0975799 brain malformation renal syndrome 'brain malformation renal syndrome' SubClassOf 'syndromic disease' 'brain malformation renal syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0975795 Kariminejad neurodevelopmental syndrome 'Kariminejad neurodevelopmental syndrome' SubClassOf 'syndromic disease' 'Kariminejad neurodevelopmental syndrome' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0975796 spastic paraplegia 93, autosomal recessive 'spastic paraplegia 93, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0975797 myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities 'myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities' SubClassOf 'genetic disorder' 'myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0975749 immunodeficiency 125 'immunodeficiency 125' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0975746 spastic paraplegia 92, autosomal recessive 'spastic paraplegia 92, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/HP_0000002 Abnormality of body height 'Abnormality of body height' SubClassOf 'Growth abnormality' http://purl.obolibrary.org/obo/MONDO_0975755 eccrine angiomatous hamartoma 'eccrine angiomatous hamartoma' SubClassOf 'benign vascular tumor' http://purl.obolibrary.org/obo/HP_0000012 Urinary urgency 'Urinary urgency' SubClassOf 'Functional abnormality of the bladder' http://purl.obolibrary.org/obo/HP_0000025 Functional abnormality of male internal genitalia 'Functional abnormality of male internal genitalia' SubClassOf 'Abnormality of the genital system' http://purl.obolibrary.org/obo/MONDO_0975875 basal ganglia calcification, idiopathic, 10, autosomal recessive 'basal ganglia calcification, idiopathic, 10, autosomal recessive' SubClassOf 'bilateral striopallidodentate calcinosis' http://purl.obolibrary.org/obo/MONDO_0975877 neurodevelopmental disorder with variable familial hypercholanemia 'neurodevelopmental disorder with variable familial hypercholanemia' SubClassOf 'Mendelian neurodevelopmental disorder' 'neurodevelopmental disorder with variable familial hypercholanemia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0975874 neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities 'neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities' SubClassOf 'syndromic disease' 'neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0975846 congenital disorder of glycosylation, type 1DD 'congenital disorder of glycosylation, type 1DD' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0975847 autoimmune disease with susceptibility to mycobacterium tuberculosis 'autoimmune disease with susceptibility to mycobacterium tuberculosis' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0975848 Morimoto-Ryu-Malicdan neuromuscular syndrome 'Morimoto-Ryu-Malicdan neuromuscular syndrome' SubClassOf 'hereditary neuromuscular disease' 'Morimoto-Ryu-Malicdan neuromuscular syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0975842 spermatogenic failure 96 'spermatogenic failure 96' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0975843 premature ovarian failure 25 'premature ovarian failure 25' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0975840 retinitis pigmentosa 98 'retinitis pigmentosa 98' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0975841 fibromatosis, gingival, 6 'fibromatosis, gingival, 6' SubClassOf 'hereditary gingival fibromatosis' http://purl.obolibrary.org/obo/MONDO_0975827 orofaciodigital syndrome 21 'orofaciodigital syndrome 21' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0975828 intellectual developmental disorder, X-linked 114 'intellectual developmental disorder, X-linked 114' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0975829 anemia, congenital dyserythropoietic, type IVb 'anemia, congenital dyserythropoietic, type IVb' SubClassOf 'congenital dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0975835 bronchiectasis and nasal polyposis 'bronchiectasis and nasal polyposis' SubClassOf 'genetic disorder' 'bronchiectasis and nasal polyposis' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0975836 Karayol-Borroto-Haghshenas neurodevelopmental syndrome 'Karayol-Borroto-Haghshenas neurodevelopmental syndrome' SubClassOf 'syndromic disease' 'Karayol-Borroto-Haghshenas neurodevelopmental syndrome' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0975837 neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities 'neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities' SubClassOf 'genetic disorder' 'neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0975838 intellectual developmental disorder, autosomal dominant 75 'intellectual developmental disorder, autosomal dominant 75' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0975832 immunodeficiency 127 'immunodeficiency 127' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0975833 leukodystrophy, hypomyelinating, 28 'leukodystrophy, hypomyelinating, 28' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0975834 immunodeficiency 128 'immunodeficiency 128' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0975839 pancreatic agenesis 3 'pancreatic agenesis 3' SubClassOf 'pancreatic agenesis' http://purl.obolibrary.org/obo/MONDO_0975805 foveal hypoplasia 3 'foveal hypoplasia 3' SubClassOf 'foveal hypoplasia' http://purl.obolibrary.org/obo/MONDO_0975801 encephalopathy, acute transient 'encephalopathy, acute transient' SubClassOf 'brain disease' 'encephalopathy, acute transient' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0975806 multiple mitochondrial dysfunctions syndrome 10 'multiple mitochondrial dysfunctions syndrome 10' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' http://purl.obolibrary.org/obo/MONDO_0975807 cholestasis, progressive familial intrahepatic, 13 'cholestasis, progressive familial intrahepatic, 13' SubClassOf 'progressive familial intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0975808 congenital myopathy 25 'congenital myopathy 25' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0975809 microphthalmia/coloboma 13 'microphthalmia/coloboma 13' SubClassOf 'microphthalmia, isolated, with coloboma' http://purl.obolibrary.org/obo/MONDO_0975810 short stature with nonspecific skeletal abnormalities 'short stature with nonspecific skeletal abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0000215 Thick upper lip vermilion 'Thick upper lip vermilion' SubClassOf 'Thick vermilion border' http://purl.obolibrary.org/obo/HP_0000221 Furrowed tongue 'Furrowed tongue' SubClassOf 'Abnormality of the tongue' http://purl.obolibrary.org/obo/HP_0000239 Large fontanelles 'Large fontanelles' SubClassOf 'Abnormal cranial suture/fontanelle morphology' http://purl.obolibrary.org/obo/HP_0000253 Progressive microcephaly 'Progressive microcephaly' SubClassOf 'Secondary microcephaly' http://purl.obolibrary.org/obo/HP_0000273 Facial grimacing 'Facial grimacing' SubClassOf 'Abnormality of the face' http://purl.obolibrary.org/obo/HP_0000270 Delayed cranial suture closure 'Delayed cranial suture closure' SubClassOf 'Abnormal cranial suture/fontanelle morphology' http://purl.obolibrary.org/obo/HP_0000174 Abnormal palate morphology 'Abnormal palate morphology' SubClassOf 'Abnormality of the mouth' http://purl.obolibrary.org/obo/HP_0000189 Narrow palate 'Narrow palate' SubClassOf 'Abnormal palate morphology' http://purl.obolibrary.org/obo/HP_0000151 Aplasia of the uterus 'Aplasia of the uterus' SubClassOf 'Abnormality of the uterus' http://purl.obolibrary.org/obo/HP_0000456 Bifid nasal tip 'Bifid nasal tip' SubClassOf 'Abnormality of the nose' http://purl.obolibrary.org/obo/HP_0000452 Choanal stenosis 'Choanal stenosis' SubClassOf 'Abnormality of the nose' http://purl.obolibrary.org/obo/HP_0000480 Retinal coloboma 'Retinal coloboma' SubClassOf 'Abnormal retinal morphology' http://purl.obolibrary.org/obo/HP_0000329 Facial hemangioma 'Facial hemangioma' SubClassOf 'Abnormality of the face' 'Facial hemangioma' SubClassOf 'Abnormality of the vasculature' http://purl.obolibrary.org/obo/MONDO_0021809 primary dysautonomia 'primary dysautonomia' SubClassOf 'dysautonomia' http://purl.obolibrary.org/obo/MONDO_0971016 MHC class II deficiency 5 'MHC class II deficiency 5' SubClassOf 'MHC class II deficiency' http://purl.obolibrary.org/obo/MONDO_0031240 familial panic disorder 'familial panic disorder' SubClassOf 'panic disorder' 'familial panic disorder' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/HP_0000691 Microdontia 'Microdontia' SubClassOf 'Abnormal dental morphology' http://purl.obolibrary.org/obo/HP_0000637 Long palpebral fissure 'Long palpebral fissure' SubClassOf 'Abnormality of the face' http://purl.obolibrary.org/obo/HP_0000633 Decreased lacrimation 'Decreased lacrimation' SubClassOf 'Lacrimation abnormality' http://purl.obolibrary.org/obo/MONDO_0975957 telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature 'telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature' SubClassOf 'syndromic disease' 'telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0975958 spermatogenic failure 97 'spermatogenic failure 97' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0975952 cerebral cavernous malformations 5 'cerebral cavernous malformations 5' SubClassOf 'famililal cerebral cavernous malformations' http://purl.obolibrary.org/obo/MONDO_0975953 Pan-Chung-Bellen syndrome 'Pan-Chung-Bellen syndrome' SubClassOf 'syndromic disease' 'Pan-Chung-Bellen syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0975955 autoinflammation, panniculitis, and dermatosis syndrome 'autoinflammation, panniculitis, and dermatosis syndrome' SubClassOf 'immune system disease' 'autoinflammation, panniculitis, and dermatosis syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0975951 spastic paraplegia, mitochondrial 'spastic paraplegia, mitochondrial' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0000601 Hypotelorism 'Hypotelorism' SubClassOf 'Abnormality of the eye' http://purl.obolibrary.org/obo/HP_0000574 Thick eyebrow 'Thick eyebrow' SubClassOf 'Abnormal eyebrow morphology' http://purl.obolibrary.org/obo/HP_0000579 Nasolacrimal duct obstruction 'Nasolacrimal duct obstruction' SubClassOf 'Abnormal nasolacrimal system morphology' http://purl.obolibrary.org/obo/HP_0000586 Shallow orbits 'Shallow orbits' SubClassOf 'Abnormality of the face' 'Shallow orbits' SubClassOf 'Proptosis' 'Shallow orbits' SubClassOf 'Abnormal skull morphology' http://purl.obolibrary.org/obo/HP_0000593 Abnormal anterior chamber morphology 'Abnormal anterior chamber morphology' SubClassOf 'Abnormal anterior eye segment morphology' http://purl.obolibrary.org/obo/HP_0000543 Optic disc pallor 'Optic disc pallor' SubClassOf 'Abnormal optic nerve morphology' http://purl.obolibrary.org/obo/HP_0000551 Color vision defect 'Color vision defect' SubClassOf 'Abnormality of vision' http://purl.obolibrary.org/obo/MONDO_0031008 nephrotic syndrome, type 24 'nephrotic syndrome, type 24' SubClassOf 'familial nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0031062 polycystic kidney disease 7 'polycystic kidney disease 7' SubClassOf 'Autosomal dominant polycystic kidney disease' http://purl.obolibrary.org/obo/MONDO_0031060 microcephaly 29, primary, autosomal recessive 'microcephaly 29, primary, autosomal recessive' SubClassOf 'autosomal recessive primary microcephaly' http://purl.obolibrary.org/obo/MONDO_0976236 neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment 'neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0976230 spondyloepimetaphyseal dysplasia, Li-Shao-Li type 'spondyloepimetaphyseal dysplasia, Li-Shao-Li type' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0976231 intellectual developmental disorder, autosomal recessive 83 'intellectual developmental disorder, autosomal recessive 83' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0976232 Perrault syndrome 7 'Perrault syndrome 7' SubClassOf 'Perrault syndrome' http://purl.obolibrary.org/obo/MONDO_0976233 neurodevelopmental disorder with progressive spasticity and brain abnormalities 'neurodevelopmental disorder with progressive spasticity and brain abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0976227 Charcot-Marie-tooth disease, axonal, type 2JJ 'Charcot-Marie-tooth disease, axonal, type 2JJ' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0976228 immunodeficiency 132b 'immunodeficiency 132b' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0976229 immunodeficiency 131 'immunodeficiency 131' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0976226 neuronopathy, distal hereditary motor, autosomal dominant 15 'neuronopathy, distal hereditary motor, autosomal dominant 15' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' http://purl.obolibrary.org/obo/HP_0000886 Deformed rib cage 'Deformed rib cage' SubClassOf 'Abnormal thorax morphology' http://purl.obolibrary.org/obo/HP_0000894 Short clavicles 'Short clavicles' SubClassOf 'Abnormal thorax morphology' http://purl.obolibrary.org/obo/OBA_1000960 3,3',5-triiodo-L-thyronine amount '3,3',5-triiodo-L-thyronine amount' SubClassOf 'thyroid hormone amount' '3,3',5-triiodo-L-thyronine amount' SubClassOf 'amino acid amount' http://purl.obolibrary.org/obo/HP_0000858 Irregular menstruation 'Irregular menstruation' SubClassOf 'Abnormality of the genital system' http://purl.obolibrary.org/obo/MONDO_0976135 heterotaxy, visceral, 14, autosomal 'heterotaxy, visceral, 14, autosomal' SubClassOf 'visceral heterotaxy' http://purl.obolibrary.org/obo/MONDO_0976136 ocular pterygium-digital keloid dysplasia syndrome 'ocular pterygium-digital keloid dysplasia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0976137 oocyte/zygote/embryo maturation arrest 22 'oocyte/zygote/embryo maturation arrest 22' SubClassOf 'inherited oocyte maturation defect' http://purl.obolibrary.org/obo/MONDO_0976138 leukodystrophy, demyelinating, adult-onset 'leukodystrophy, demyelinating, adult-onset' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0976131 neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia 'neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0976132 mitochondrial dna depletion syndrome 21 'mitochondrial dna depletion syndrome 21' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0976133 myopathy, myofibrillar, 13, with rimmed vacuoles 'myopathy, myofibrillar, 13, with rimmed vacuoles' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0976134 heterotaxy, visceral, 13, autosomal 'heterotaxy, visceral, 13, autosomal' SubClassOf 'visceral heterotaxy' http://purl.obolibrary.org/obo/HP_0000722 Compulsive behaviors 'Compulsive behaviors' SubClassOf 'Atypical behavior' http://purl.obolibrary.org/obo/HP_0000742 Self-mutilation 'Self-mutilation' SubClassOf 'Self-injurious behavior' http://purl.obolibrary.org/obo/MONDO_0976262 holoprosencephaly 10 'holoprosencephaly 10' SubClassOf 'holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0002125 obsolete status epilepticus 'obsolete status epilepticus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0010472 Abnormal circulating porphyrin concentration 'Abnormal circulating porphyrin concentration' SubClassOf 'Abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/MONDO_0100590 hemolytic uremic syndrome, atypical, susceptibility to, 7 'hemolytic uremic syndrome, atypical, susceptibility to, 7' SubClassOf 'predisposes towards' some 'immunoglobulin-mediated membranoproliferative glomerulonephritis' 'hemolytic uremic syndrome, atypical, susceptibility to, 7' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0100592 SLC26A2-related skeletal dysplasia 'SLC26A2-related skeletal dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0100593 COMP-related skeletal dysplasia 'COMP-related skeletal dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0100596 COL1A2-related osteogenesis imperfecta 'COL1A2-related osteogenesis imperfecta' SubClassOf 'osteogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0100597 intellectual disability, autosomal recessive 'intellectual disability, autosomal recessive' SubClassOf 'hereditary neurological disease' 'intellectual disability, autosomal recessive' SubClassOf 'developmental disorder of mental health' 'intellectual disability, autosomal recessive' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0100598 autosomal recessive syndromic intellectual disability 'autosomal recessive syndromic intellectual disability' SubClassOf 'intellectual disability, autosomal recessive' 'autosomal recessive syndromic intellectual disability' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0100599 COL1A1-related Ehlers-Danlos syndrome 'COL1A1-related Ehlers-Danlos syndrome' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0100631 sleep-related hypermotor epilepsy 'sleep-related hypermotor epilepsy' SubClassOf 'frontal lobe epilepsy' 'sleep-related hypermotor epilepsy' SubClassOf 'variable-age onset focal epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0100632 CSF1R-related disorder 'CSF1R-related disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100613 BMP4-related ocular growth disorder 'BMP4-related ocular growth disorder' SubClassOf 'ocular growth disorder' 'BMP4-related ocular growth disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100614 syndromic congenital heart disease 'syndromic congenital heart disease' SubClassOf 'syndromic disease' 'syndromic congenital heart disease' SubClassOf 'congenital heart disease' http://purl.obolibrary.org/obo/MONDO_0100617 VPS11-related neurological disorder 'VPS11-related neurological disorder' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0100619 variable age epilepsy syndrome 'variable age epilepsy syndrome' SubClassOf 'epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0100620 developmental and epileptic encephalopathy 'developmental and epileptic encephalopathy' SubClassOf 'complex neurodevelopmental disorder' 'developmental and epileptic encephalopathy' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0100621 acquired developmental and epileptic encephalopathy 'acquired developmental and epileptic encephalopathy' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0100624 DCTN1-related neurodegeneration 'DCTN1-related neurodegeneration' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0100625 childhood-onset dementia 'childhood-onset dementia' SubClassOf 'dementia' http://purl.obolibrary.org/obo/MONDO_0100626 SOX11-related complex neurodevelopmental disorder with or without congenital anomalies 'SOX11-related complex neurodevelopmental disorder with or without congenital anomalies' SubClassOf 'complex neurodevelopmental disorder with or without congenital anomalies' 'SOX11-related complex neurodevelopmental disorder with or without congenital anomalies' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0100627 CFTR-related metabolic syndrome 'CFTR-related metabolic syndrome' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0100629 KIF5A-related neurological disorder 'KIF5A-related neurological disorder' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0100601 autosomal dominant syndromic intellectual disability 'autosomal dominant syndromic intellectual disability' SubClassOf 'intellectual disability, autosomal dominant' 'autosomal dominant syndromic intellectual disability' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0100602 COL2A1-related spondyloepiphyseal dysplasia 'COL2A1-related spondyloepiphyseal dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'COL2A1-related spondyloepiphyseal dysplasia' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0100603 FAT4-related neurodevelopmental disorder 'FAT4-related neurodevelopmental disorder' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0100604 TOR1AIP1-related nuclear envelopathy 'TOR1AIP1-related nuclear envelopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100605 POLR-related leukodystrophy 'POLR-related leukodystrophy' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0100606 COL1A2-related Ehlers-Danlos syndrome 'COL1A2-related Ehlers-Danlos syndrome' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0100607 ciliary dyskinesia, primary, 54 'ciliary dyskinesia, primary, 54' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0100608 ALPL-related autosomal dominant hypophosphatasia 'ALPL-related autosomal dominant hypophosphatasia' SubClassOf 'hypophosphatasia' 'ALPL-related autosomal dominant hypophosphatasia' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0100609 ALPL-related autosomal recessive hypophosphatasia 'ALPL-related autosomal recessive hypophosphatasia' SubClassOf 'autosomal recessive disease' 'ALPL-related autosomal recessive hypophosphatasia' SubClassOf 'hypophosphatasia' http://purl.obolibrary.org/obo/MONDO_0976128 epilepsy, idiopathic generalized, susceptibility to, 19 'epilepsy, idiopathic generalized, susceptibility to, 19' SubClassOf 'inherited disease susceptibility' 'epilepsy, idiopathic generalized, susceptibility to, 19' SubClassOf 'predisposes towards' some 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0976129 premature ovarian failure 26 'premature ovarian failure 26' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0976124 intellectual developmental disorder with polymicrogyria and seizures 'intellectual developmental disorder with polymicrogyria and seizures' SubClassOf 'hereditary neurological disease' 'intellectual developmental disorder with polymicrogyria and seizures' SubClassOf 'developmental disorder of mental health' http://purl.obolibrary.org/obo/MONDO_0976125 neurodevelopmental disorder with speech or visual impairment and brain hypomyelination 'neurodevelopmental disorder with speech or visual impairment and brain hypomyelination' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0976126 neurodevelopmental disorder with microcephaly, absent speech, and hypotonia 'neurodevelopmental disorder with microcephaly, absent speech, and hypotonia' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0976127 Muggenthaler-Chowdhury-Chioza syndrome 'Muggenthaler-Chowdhury-Chioza syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0976123 spermatogenic failure, X-linked, 9 'spermatogenic failure, X-linked, 9' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0976130 neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies 'neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0100489 Graves disease, susceptibility to, 1 'Graves disease, susceptibility to, 1' SubClassOf 'predisposes towards' some 'Thyrotoxicosis' 'Graves disease, susceptibility to, 1' SubClassOf 'autoimmune thyroid disease, susceptibility to' http://purl.obolibrary.org/obo/MONDO_0100578 FANCM Fanconi-like genomic instability disorder 'FANCM Fanconi-like genomic instability disorder' SubClassOf 'Fanconi-like syndrome' http://purl.obolibrary.org/obo/MONDO_0100581 ocular growth disorder 'ocular growth disorder' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0100582 TOR1AIP1-related myopathy 'TOR1AIP1-related myopathy' SubClassOf 'congenital myopathy' 'TOR1AIP1-related myopathy' SubClassOf 'TOR1AIP1-related nuclear envelopathy' http://purl.obolibrary.org/obo/MONDO_0100586 B3GALT6-congenital disorder of glycosylation 'B3GALT6-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0100566 myoclonic epilepsy in infancy 'myoclonic epilepsy in infancy' SubClassOf 'myoclonic epilepsy' 'myoclonic epilepsy in infancy' SubClassOf 'infantile epilepsy syndrome' 'myoclonic epilepsy in infancy' SubClassOf 'neonatal/infantile-onset self-limited epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0100569 ACD-related short telomere syndrome 'ACD-related short telomere syndrome' SubClassOf 'ACD-related telomere biology disorder' http://purl.obolibrary.org/obo/HP_0000961 Cyanosis 'Cyanosis' SubClassOf 'Abnormal skin morphology' http://purl.obolibrary.org/obo/HP_0000963 Thin skin 'Thin skin' SubClassOf 'Abnormal skin morphology' http://purl.obolibrary.org/obo/HP_0000965 Cutis marmorata 'Cutis marmorata' SubClassOf 'Vascular skin abnormality' http://purl.obolibrary.org/obo/MONDO_0100502 NTHL1-deficiency tumor predisposition syndrome 'NTHL1-deficiency tumor predisposition syndrome' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0100506 Cockayne spectrum with or without cerebrooculofacioskeletal syndrome 'Cockayne spectrum with or without cerebrooculofacioskeletal syndrome' SubClassOf 'Cockayne syndrome' http://purl.obolibrary.org/obo/HP_0010305 Absence of the sacrum 'Absence of the sacrum' SubClassOf 'Abnormality of the vertebral column' http://purl.obolibrary.org/obo/MONDO_1040039 OFD1-related ciliopathy 'OFD1-related ciliopathy' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_1040023 NDUFB11-related disorders 'NDUFB11-related disorders' SubClassOf 'genetic disorder' 'NDUFB11-related disorders' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_1040021 congenital myasthenic syndrome 4 'congenital myasthenic syndrome 4' SubClassOf 'postsynaptic congenital myasthenic syndrome' http://purl.obolibrary.org/obo/MONDO_1040045 BBS12-related ciliopathy 'BBS12-related ciliopathy' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_1040042 BBS7-related ciliopathy 'BBS7-related ciliopathy' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_1040043 BBS1-related ciliopathy 'BBS1-related ciliopathy' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_1040048 BBS2-related ciliopathy 'BBS2-related ciliopathy' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_1040070 SPATA7-related retinopathy 'SPATA7-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_1040063 KCNV2-related retinopathy 'KCNV2-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_1040004 PIK3R2-related overgrowth spectrum 'PIK3R2-related overgrowth spectrum' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0100432 FNIP1-associated syndrome 'FNIP1-associated syndrome' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0100445 LCA5-related retinopathy 'LCA5-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0100446 CNGB3-related retinopathy 'CNGB3-related retinopathy' SubClassOf 'muscular channelopathy' 'CNGB3-related retinopathy' SubClassOf 'hereditary neuromuscular disease' http://purl.obolibrary.org/obo/MONDO_0100427 non-iatrogenic 'non-iatrogenic' SubClassOf 'iatrogenic or non-iatrogenic' http://purl.obolibrary.org/obo/HP_0010649 Flat nasal alae 'Flat nasal alae' SubClassOf 'Abnormality of the nose' http://purl.obolibrary.org/obo/HP_0010628 Facial palsy 'Facial palsy' SubClassOf 'Muscle weakness' 'Facial palsy' SubClassOf 'Weakness of facial musculature' 'Facial palsy' SubClassOf 'Abnormal nervous system physiology' http://purl.obolibrary.org/obo/HP_0010557 Overlapping fingers 'Overlapping fingers' SubClassOf 'Abnormal finger morphology' http://purl.obolibrary.org/obo/MONDO_0100281 macroglobulinemia, Waldenstrom, 1 'macroglobulinemia, Waldenstrom, 1' SubClassOf 'Waldenstrom macroglobulinemia' http://purl.obolibrary.org/obo/MONDO_0100287 POLE-related polyposis and colorectal cancer syndrome 'POLE-related polyposis and colorectal cancer syndrome' SubClassOf 'polyposis' 'POLE-related polyposis and colorectal cancer syndrome' SubClassOf 'Polymerase proofreading-related adenomatous polyposis' 'POLE-related polyposis and colorectal cancer syndrome' SubClassOf 'familial colorectal cancer' 'POLE-related polyposis and colorectal cancer syndrome' SubClassOf 'polyp of large intestine' http://purl.obolibrary.org/obo/MONDO_0100346 microcephaly with or without short stature 'microcephaly with or without short stature' SubClassOf 'autosomal recessive primary microcephaly' http://purl.obolibrary.org/obo/HP_0010537 Wide cranial sutures 'Wide cranial sutures' SubClassOf 'Abnormal cranial suture/fontanelle morphology' http://purl.obolibrary.org/obo/MONDO_0100183 radioulnar synostosis, nonsyndromic, susceptibility to 'radioulnar synostosis, nonsyndromic, susceptibility to' SubClassOf 'inherited disease susceptibility' 'radioulnar synostosis, nonsyndromic, susceptibility to' SubClassOf 'predisposes towards' some 'congenital radioulnar synostosis' http://purl.obolibrary.org/obo/MONDO_0100158 CHRNG-associated hypo-akinesia disorder of prenatal onset 'CHRNG-associated hypo-akinesia disorder of prenatal onset' SubClassOf 'multiple pterygium syndrome' http://purl.obolibrary.org/obo/MONDO_0100149 PNPLA6-related spastic paraplegia with or without ataxia 'PNPLA6-related spastic paraplegia with or without ataxia' SubClassOf 'hereditary spastic paraplegia 39' http://purl.obolibrary.org/obo/MONDO_0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 'developmental delay with short stature, dysmorphic facial features, and sparse hair 2' SubClassOf 'developmental delay with short stature, dysmorphic facial features, and sparse hair' http://purl.obolibrary.org/obo/HP_0009829 Phocomelia 'Phocomelia' SubClassOf 'Abnormal long bone morphology' 'Phocomelia' SubClassOf 'Abnormality of limbs' http://purl.obolibrary.org/obo/HP_0010829 Impaired temperature sensation 'Impaired temperature sensation' SubClassOf 'Somatic sensory dysfunction' http://purl.obolibrary.org/obo/HP_0010867 Dyssynergia 'Dyssynergia' SubClassOf 'Ataxia' http://purl.obolibrary.org/obo/HP_0009726 Renal neoplasm 'Renal neoplasm' SubClassOf 'Abnormality of the kidney' http://purl.obolibrary.org/obo/HP_0010704 1-2 finger cutaneous syndactyly '1-2 finger cutaneous syndactyly' SubClassOf 'Cutaneous finger syndactyly' http://purl.obolibrary.org/obo/HP_0010793 Bifid nail 'Bifid nail' SubClassOf 'Nail dysplasia' http://purl.obolibrary.org/obo/HP_0010722 Asymmetry of the ears 'Asymmetry of the ears' SubClassOf 'Abnormal pinna morphology' http://purl.obolibrary.org/obo/HP_0010741 Pedal edema 'Pedal edema' SubClassOf 'Edema' 'Pedal edema' SubClassOf 'Abnormality of the lower limb' http://purl.obolibrary.org/obo/MONDO_0012610 inflammatory bowel disease 10 'inflammatory bowel disease 10' SubClassOf 'inflammatory bowel disease' http://purl.obolibrary.org/obo/MONDO_1060123 GRIN1-related neurodevelopmental disorder 'GRIN1-related neurodevelopmental disorder' SubClassOf 'Mendelian neurodevelopmental disorder' 'GRIN1-related neurodevelopmental disorder' SubClassOf 'GRIN disorder' http://purl.obolibrary.org/obo/MONDO_1060138 GRIN disorder 'GRIN disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_1060139 GRIN2A-related disorder 'GRIN2A-related disorder' SubClassOf 'GRIN disorder' http://purl.obolibrary.org/obo/MONDO_1060136 PIK3R1-related immunodeficiency and SHORT syndrome 'PIK3R1-related immunodeficiency and SHORT syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_1060109 PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder 'PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_1060107 CYP7B1-related disorder of oxysterol accumulation 'CYP7B1-related disorder of oxysterol accumulation' SubClassOf 'inherited lipid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_1060108 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_1060116 FDXR-related optic atrophy mitochondrial dysfunction syndrome 'FDXR-related optic atrophy mitochondrial dysfunction syndrome' SubClassOf 'genetic disorder' 'FDXR-related optic atrophy mitochondrial dysfunction syndrome' SubClassOf 'mitochondrial disease' http://purl.obolibrary.org/obo/MONDO_1060117 MYCBP2-related developmental delay with corpus callosum defects 'MYCBP2-related developmental delay with corpus callosum defects' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_1060115 TUBB4B-related ciliopathy 'TUBB4B-related ciliopathy' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_0012696 otosclerosis 4 'otosclerosis 4' SubClassOf 'otosclerosis' http://purl.obolibrary.org/obo/HP_0010926 Aculeiform cataract 'Aculeiform cataract' SubClassOf 'Cataract' http://purl.obolibrary.org/obo/HP_0010945 Fetal pyelectasis 'Fetal pyelectasis' SubClassOf 'Abnormal renal pelvis morphology' 'Fetal pyelectasis' SubClassOf 'Fetal anomaly' http://purl.obolibrary.org/obo/MONDO_0012507 retinal cone dystrophy 4 'retinal cone dystrophy 4' SubClassOf 'cone dystrophy' 'retinal cone dystrophy 4' SubClassOf 'CACNA2D4-related retinopathy' 'retinal cone dystrophy 4' SubClassOf 'cone-rod dystrophy' http://purl.obolibrary.org/obo/HP_0010952 Mild fetal ventriculomegaly 'Mild fetal ventriculomegaly' SubClassOf 'Fetal anomaly' 'Mild fetal ventriculomegaly' SubClassOf 'Ventriculomegaly' http://purl.obolibrary.org/obo/HP_0030085 Abnormal CSF lactate concentration 'Abnormal CSF lactate concentration' SubClassOf 'Abnormality of metabolism/homeostasis' 'Abnormal CSF lactate concentration' SubClassOf 'Abnormal cerebrospinal fluid morphology' http://purl.obolibrary.org/obo/HP_0030053 Stiff skin 'Stiff skin' SubClassOf 'Abnormal skin morphology' http://purl.obolibrary.org/obo/HP_0030058 Sickled erythrocytes 'Sickled erythrocytes' SubClassOf 'Abnormal erythrocyte morphology' http://purl.obolibrary.org/obo/MONDO_0012429 Aicardi-Goutieres syndrome 2 'Aicardi-Goutieres syndrome 2' SubClassOf 'RNASEH2B-related type 1 interferonopathy' 'Aicardi-Goutieres syndrome 2' SubClassOf 'Aicardi-Goutieres syndrome' http://purl.obolibrary.org/obo/MONDO_0012471 Aicardi-Goutieres syndrome 3 'Aicardi-Goutieres syndrome 3' SubClassOf 'RNASEH2C-related type 1 interferonopathy' 'Aicardi-Goutieres syndrome 3' SubClassOf 'Aicardi-Goutieres syndrome' http://purl.obolibrary.org/obo/MONDO_0012472 Aicardi-Goutieres syndrome 4 'Aicardi-Goutieres syndrome 4' SubClassOf 'Aicardi-Goutieres syndrome' 'Aicardi-Goutieres syndrome 4' SubClassOf 'RNASEH2A-related type 1 interferonopathy' http://purl.obolibrary.org/obo/MONDO_0012367 retinitis pigmentosa 31 'retinitis pigmentosa 31' SubClassOf 'retinitis pigmentosa' 'retinitis pigmentosa 31' SubClassOf 'TOPORS-related retinopathy' http://purl.obolibrary.org/obo/HP_0005294 Arterial dissection 'Arterial dissection' SubClassOf 'Abnormal cardiovascular system morphology' 'Arterial dissection' SubClassOf 'Abnormality of the vasculature' http://purl.obolibrary.org/obo/HP_0030275 Ectopic scrotum 'Ectopic scrotum' SubClassOf 'Abnormality of the male genitalia' http://purl.obolibrary.org/obo/HP_0030260 Microphallus 'Microphallus' SubClassOf 'Hypoplasia of penis' http://purl.obolibrary.org/obo/MONDO_0012249 Lynch syndrome 2 'Lynch syndrome 2' SubClassOf 'Lynch syndrome' http://purl.obolibrary.org/obo/MONDO_0012024 retinitis pigmentosa 26 'retinitis pigmentosa 26' SubClassOf 'retinitis pigmentosa' 'retinitis pigmentosa 26' SubClassOf 'CERKL-related retinopathy' http://purl.obolibrary.org/obo/HP_0030182 Tetraplegia/tetraparesis 'Tetraplegia/tetraparesis' SubClassOf 'Abnormal central motor function' http://purl.obolibrary.org/obo/HP_0005101 High-frequency hearing impairment 'High-frequency hearing impairment' SubClassOf 'Hearing impairment' http://purl.obolibrary.org/obo/HP_0005116 Arterial tortuosity 'Arterial tortuosity' SubClassOf 'Abnormal cardiovascular system morphology' 'Arterial tortuosity' SubClassOf 'Abnormality of the vasculature' http://purl.obolibrary.org/obo/MONDO_0026721 mitochondrial complex I deficiency, nuclear type 30 'mitochondrial complex I deficiency, nuclear type 30' SubClassOf 'mitochondrial complex I deficiency, nuclear type' 'mitochondrial complex I deficiency, nuclear type 30' SubClassOf 'NDUFB11-related disorders' http://purl.obolibrary.org/obo/HP_0030409 Renal transitional cell carcinoma 'Renal transitional cell carcinoma' SubClassOf 'Renal neoplasm' http://purl.obolibrary.org/obo/HP_0005461 Craniofacial disproportion 'Craniofacial disproportion' SubClassOf 'Abnormal facial shape' http://purl.obolibrary.org/obo/HP_0005345 Abnormal vena cava morphology 'Abnormal vena cava morphology' SubClassOf 'Abnormal venous morphology' http://purl.obolibrary.org/obo/HP_0005328 Progeroid facial appearance 'Progeroid facial appearance' SubClassOf 'Abnormal skin morphology' http://purl.obolibrary.org/obo/HP_0030319 Weakness of facial musculature 'Weakness of facial musculature' SubClassOf 'Abnormality of the face' 'Weakness of facial musculature' SubClassOf 'Abnormal skeletal muscle morphology' http://www.ebi.ac.uk/efo/EFO_0900000 particle-templated instant partition sequencing 'particle-templated instant partition sequencing' SubClassOf 'single-cell RNA sequencing' 'particle-templated instant partition sequencing' SubClassOf 'droplet-based single-cell RNA library preparation' http://www.ebi.ac.uk/efo/EFO_0900001 Asteria scRNA-seq kit 'Asteria scRNA-seq kit' SubClassOf 'single-cell RNA sequencing' 'Asteria scRNA-seq kit' SubClassOf 'single cell library construction' 'Asteria scRNA-seq kit' SubClassOf 'assay kit' http://www.ebi.ac.uk/efo/EFO_0900002 HIVE CLX Single-Cell RNAseq Solution 'HIVE CLX Single-Cell RNAseq Solution' SubClassOf 'single cell library construction' 'HIVE CLX Single-Cell RNAseq Solution' SubClassOf 'single-cell RNA sequencing' 'HIVE CLX Single-Cell RNAseq Solution' SubClassOf 'assay kit' http://purl.obolibrary.org/obo/HP_0005716 Lethal skeletal dysplasia 'Lethal skeletal dysplasia' SubClassOf 'Skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007283 cataract 42 'cataract 42' SubClassOf 'early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/HP_0005599 Hypopigmentation of hair 'Hypopigmentation of hair' SubClassOf 'Abnormality of the integument' http://purl.obolibrary.org/obo/HP_0005528 Bone marrow hypocellularity 'Bone marrow hypocellularity' SubClassOf 'Abnormality of blood and blood-forming tissues' http://purl.obolibrary.org/obo/MONDO_0007169 atherosclerosis susceptibility 'atherosclerosis susceptibility' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/HP_0005565 Reduced renal corticomedullary differentiation 'Reduced renal corticomedullary differentiation' SubClassOf 'Abnormal renal cortex morphology' http://purl.obolibrary.org/obo/HP_0005959 Impaired gluconeogenesis 'Impaired gluconeogenesis' SubClassOf 'Abnormal glucose homeostasis' http://purl.obolibrary.org/obo/HP_0005864 Pseudoarthrosis 'Pseudoarthrosis' SubClassOf 'Abnormal long bone morphology' http://purl.obolibrary.org/obo/HP_0005815 Supernumerary ribs 'Supernumerary ribs' SubClassOf 'Abnormal rib morphology' http://purl.obolibrary.org/obo/HP_0030746 Intraventricular hemorrhage 'Intraventricular hemorrhage' SubClassOf 'Abnormal cerebral vascular morphology' 'Intraventricular hemorrhage' SubClassOf 'Abnormality of blood circulation' 'Intraventricular hemorrhage' SubClassOf 'Abnormal bleeding' http://purl.obolibrary.org/obo/HP_0030747 Preterm intraventricular hemorrhage 'Preterm intraventricular hemorrhage' SubClassOf 'Intraventricular hemorrhage' http://purl.obolibrary.org/obo/HP_0030748 Grade I preterm intraventricular hemorrhage 'Grade I preterm intraventricular hemorrhage' SubClassOf 'Preterm intraventricular hemorrhage' http://purl.obolibrary.org/obo/HP_0040196 Mild microcephaly 'Mild microcephaly' SubClassOf 'Decreased head circumference' http://purl.obolibrary.org/obo/HP_0040195 Decreased head circumference 'Decreased head circumference' SubClassOf 'Abnormal skull morphology' http://purl.obolibrary.org/obo/MONDO_0859000 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome 'SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0957431 endogenous Cushing syndrome 'endogenous Cushing syndrome' SubClassOf 'adrenal gland disease' 'endogenous Cushing syndrome' SubClassOf 'Cushing syndrome' http://purl.obolibrary.org/obo/MONDO_0859172 hemolytic disease of fetus and newborn, RH-induced 'hemolytic disease of fetus and newborn, RH-induced' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0859159 deafness, cataract, impaired intellectual development, and polyneuropathy 'deafness, cataract, impaired intellectual development, and polyneuropathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859147 Marbach-Rustad progeroid syndrome 'Marbach-Rustad progeroid syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0859141 neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia 'neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0012934 leukemia, chronic lymphocytic, susceptibility to, 3 'leukemia, chronic lymphocytic, susceptibility to, 3' SubClassOf 'predisposes towards' some 'chronic lymphocytic leukemia' 'leukemia, chronic lymphocytic, susceptibility to, 3' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0957593 spermatogenic failure 86 'spermatogenic failure 86' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0957588 neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies 'neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/HP_0030974 Cryptozoospermia 'Cryptozoospermia' SubClassOf 'Abnormal spermatogenesis' http://purl.obolibrary.org/obo/MONDO_0957543 auriculocondylar syndrome 4 'auriculocondylar syndrome 4' SubClassOf 'auriculocondylar syndrome' http://purl.obolibrary.org/obo/MONDO_0957578 thrombocytopenia 10 'thrombocytopenia 10' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0957563 cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay 'cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0957531 neurodevelopmental disorder with microcephaly and movement abnormalities 'neurodevelopmental disorder with microcephaly and movement abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0957534 megalencephalic leukoencephalopathy with subcortical cysts 4, remitting 'megalencephalic leukoencephalopathy with subcortical cysts 4, remitting' SubClassOf 'leukoencephalopathy, megalencephalic' http://purl.obolibrary.org/obo/MONDO_0859185 neurodevelopmental disorder with hypotonia and dysmorphic facies 'neurodevelopmental disorder with hypotonia and dysmorphic facies' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/HP_0001133 Constriction of peripheral visual field 'Constriction of peripheral visual field' SubClassOf 'Visual field defect' http://purl.obolibrary.org/obo/HP_0001147 Retinal exudate 'Retinal exudate' SubClassOf 'Abnormal retinal morphology' http://purl.obolibrary.org/obo/HP_0001141 Severely reduced visual acuity 'Severely reduced visual acuity' SubClassOf 'Reduced visual acuity' http://purl.obolibrary.org/obo/MONDO_0012809 histiocytoma, Angiomatoid fibrous 'histiocytoma, Angiomatoid fibrous' SubClassOf 'histiocytoma' 'histiocytoma, Angiomatoid fibrous' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0957274 spastic paraplegia 89, autosomal recessive 'spastic paraplegia 89, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012831 inflammatory bowel disease 13 'inflammatory bowel disease 13' SubClassOf 'inflammatory bowel disease' http://purl.obolibrary.org/obo/MONDO_0012845 inflammatory bowel disease 19 'inflammatory bowel disease 19' SubClassOf 'inflammatory bowel disease' http://purl.obolibrary.org/obo/MONDO_0012840 inflammatory bowel disease 17 'inflammatory bowel disease 17' SubClassOf 'inflammatory bowel disease' http://purl.obolibrary.org/obo/MONDO_0957240 cone-rod dystrophy 24 'cone-rod dystrophy 24' SubClassOf 'cone-rod dystrophy' http://purl.obolibrary.org/obo/HP_0001058 Poor wound healing 'Poor wound healing' SubClassOf 'Abnormal skin morphology' http://purl.obolibrary.org/obo/MONDO_0957262 osteopetrosis, autosomal recessive 9 'osteopetrosis, autosomal recessive 9' SubClassOf 'autosomal recessive osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 'mitochondrial complex V (ATP synthase) deficiency, nuclear type 7' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' http://purl.obolibrary.org/obo/HP_0001073 Cigarette-paper scars 'Cigarette-paper scars' SubClassOf 'Atrophic scars' http://purl.obolibrary.org/obo/MONDO_0957253 diarrhea 13 'diarrhea 13' SubClassOf 'congenital diarrhea' http://purl.obolibrary.org/obo/HP_0001009 Telangiectasia 'Telangiectasia' SubClassOf 'Vascular skin abnormality' http://purl.obolibrary.org/obo/HP_0001015 Prominent superficial veins 'Prominent superficial veins' SubClassOf 'Prominent superficial blood vessels' 'Prominent superficial veins' SubClassOf 'Abnormal venous morphology' http://purl.obolibrary.org/obo/HP_0001031 Subcutaneous lipoma 'Subcutaneous lipoma' SubClassOf 'Abnormal adipose tissue morphology' 'Subcutaneous lipoma' SubClassOf 'Abnormal skin morphology' http://purl.obolibrary.org/obo/HP_0001374 Congenital hip dislocation 'Congenital hip dislocation' SubClassOf 'Hip dysplasia' 'Congenital hip dislocation' SubClassOf 'Abnormal hip joint morphology' 'Congenital hip dislocation' SubClassOf 'Joint dislocation' http://purl.obolibrary.org/obo/HP_0025289 Cervical lymphadenopathy 'Cervical lymphadenopathy' SubClassOf 'Lymphadenopathy' http://purl.obolibrary.org/obo/HP_0001284 Areflexia 'Areflexia' SubClassOf 'Reduced tendon reflexes' http://purl.obolibrary.org/obo/HP_0001212 Prominent fingertip pads 'Prominent fingertip pads' SubClassOf 'Abnormal finger morphology' 'Prominent fingertip pads' SubClassOf 'Prominent digit pad' http://purl.obolibrary.org/obo/HP_0001220 Interphalangeal joint contracture of finger 'Interphalangeal joint contracture of finger' SubClassOf 'Joint contracture of the hand' 'Interphalangeal joint contracture of finger' SubClassOf 'Abnormal finger morphology' http://purl.obolibrary.org/obo/HP_0025168 Left ventricular diastolic dysfunction 'Left ventricular diastolic dysfunction' SubClassOf 'Abnormal cardiovascular system physiology' http://purl.obolibrary.org/obo/HP_0001531 Failure to thrive in infancy 'Failure to thrive in infancy' SubClassOf 'Failure to thrive' http://purl.obolibrary.org/obo/HP_0025502 Overweight 'Overweight' SubClassOf 'Increased body weight' http://purl.obolibrary.org/obo/HP_0001545 Anteriorly placed anus 'Anteriorly placed anus' SubClassOf 'Abnormality of the anus' http://purl.obolibrary.org/obo/HP_0001552 Barrel-shaped chest 'Barrel-shaped chest' SubClassOf 'Abnormal thorax morphology' http://purl.obolibrary.org/obo/HP_0025373 Interictal EEG abnormality 'Interictal EEG abnormality' SubClassOf 'EEG abnormality' http://purl.obolibrary.org/obo/HP_0001750 Single ventricle 'Single ventricle' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/HP_0011172 Complex febrile seizure 'Complex febrile seizure' SubClassOf 'Febrile seizure (within the age range of 3 months to 6 years)' http://purl.obolibrary.org/obo/HP_0011189 Bilateral multifocal epileptiform discharges 'Bilateral multifocal epileptiform discharges' SubClassOf 'Multifocal epileptiform discharges' http://purl.obolibrary.org/obo/HP_0011129 Bilateral fetal pyelectasis 'Bilateral fetal pyelectasis' SubClassOf 'Fetal pyelectasis' http://purl.obolibrary.org/obo/HP_0011143 Age-related cortical cataract 'Age-related cortical cataract' SubClassOf 'Age-related cataract' http://purl.obolibrary.org/obo/HP_0001646 Abnormal aortic valve morphology 'Abnormal aortic valve morphology' SubClassOf 'Abnormal heart valve morphology' http://purl.obolibrary.org/obo/HP_0001654 Abnormal heart valve morphology 'Abnormal heart valve morphology' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/HP_0001670 Asymmetric septal hypertrophy 'Asymmetric septal hypertrophy' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/HP_0001688 Sinus bradycardia 'Sinus bradycardia' SubClassOf 'Bradycardia' http://purl.obolibrary.org/obo/HP_0011334 Facial shape deformation 'Facial shape deformation' SubClassOf 'Abnormal facial shape' http://purl.obolibrary.org/obo/HP_0011346 Mild expressive language delay 'Mild expressive language delay' SubClassOf 'Expressive language delay' http://purl.obolibrary.org/obo/HP_0001954 Recurrent fever 'Recurrent fever' SubClassOf 'Fever' http://purl.obolibrary.org/obo/HP_0001896 Reticulocytopenia 'Reticulocytopenia' SubClassOf 'Abnormal erythrocyte morphology' http://purl.obolibrary.org/obo/HP_0001875 Decreased total neutrophil count 'Decreased total neutrophil count' SubClassOf 'Abnormal leukocyte morphology' http://purl.obolibrary.org/obo/HP_0001870 Acroosteolysis of distal phalanges (feet) 'Acroosteolysis of distal phalanges (feet)' SubClassOf 'Abnormal toe morphology' 'Acroosteolysis of distal phalanges (feet)' SubClassOf 'Osteolysis' http://purl.obolibrary.org/obo/HP_0001807 Ridged nail 'Ridged nail' SubClassOf 'Abnormal nail morphology' http://purl.obolibrary.org/obo/HP_0001829 Foot polydactyly 'Foot polydactyly' SubClassOf 'Polydactyly' 'Foot polydactyly' SubClassOf 'Abnormal toe morphology' http://purl.obolibrary.org/obo/HP_0001841 Preaxial foot polydactyly 'Preaxial foot polydactyly' SubClassOf 'Foot polydactyly' http://purl.obolibrary.org/obo/HP_0011569 Cleft anterior mitral valve leaflet 'Cleft anterior mitral valve leaflet' SubClassOf 'Abnormal mitral valve morphology' http://purl.obolibrary.org/obo/MONDO_0013059 Aicardi-Goutieres syndrome 5 'Aicardi-Goutieres syndrome 5' SubClassOf 'SAMHD1-related type 1 interferonopathy' 'Aicardi-Goutieres syndrome 5' SubClassOf 'Aicardi-Goutieres syndrome' http://purl.obolibrary.org/obo/MONDO_0013077 Santos syndrome 'Santos syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013091 glycogen storage disease IXc 'glycogen storage disease IXc' SubClassOf 'glycogen storage disease due to liver phosphorylase kinase deficiency' 'glycogen storage disease IXc' SubClassOf 'glycogen storage disease IX' http://purl.obolibrary.org/obo/HP_0011423 Hyperchloremia 'Hyperchloremia' SubClassOf 'Abnormal blood ion concentration' http://purl.obolibrary.org/obo/HP_0011400 Abnormal CNS myelination 'Abnormal CNS myelination' SubClassOf 'Morphological central nervous system abnormality' 'Abnormal CNS myelination' SubClassOf 'Abnormal myelination' http://purl.obolibrary.org/obo/HP_0011787 Central hypothyroidism 'Central hypothyroidism' SubClassOf 'Abnormality of thyroid physiology' http://purl.obolibrary.org/obo/HP_0011755 Ectopic posterior pituitary 'Ectopic posterior pituitary' SubClassOf 'Abnormality of the endocrine system' 'Ectopic posterior pituitary' SubClassOf 'Abnormal brain morphology' http://purl.obolibrary.org/obo/HP_0011649 Patent ductus arteriosus after premature birth 'Patent ductus arteriosus after premature birth' SubClassOf 'Patent ductus arteriosus' http://purl.obolibrary.org/obo/HP_0011682 Perimembranous ventricular septal defect 'Perimembranous ventricular septal defect' SubClassOf 'Abnormal ventricular septum morphology' http://purl.obolibrary.org/obo/HP_0011623 Muscular ventricular septal defect 'Muscular ventricular septal defect' SubClassOf 'Abnormal ventricular septum morphology' http://purl.obolibrary.org/obo/HP_0011947 Respiratory tract infection 'Respiratory tract infection' SubClassOf 'Abnormal lung morphology' http://purl.obolibrary.org/obo/HP_0011858 Reduced factor IX activity 'Reduced factor IX activity' SubClassOf 'Abnormality of coagulation' http://purl.obolibrary.org/obo/HP_0011869 Abnormal platelet function 'Abnormal platelet function' SubClassOf 'Abnormality of blood and blood-forming tissues' http://purl.obolibrary.org/obo/HP_0011877 Increased mean platelet volume 'Increased mean platelet volume' SubClassOf 'Abnormal platelet morphology' http://purl.obolibrary.org/obo/HP_0011875 Abnormal platelet morphology 'Abnormal platelet morphology' SubClassOf 'Abnormality of blood and blood-forming tissues' http://purl.obolibrary.org/obo/MONDO_0957978 optic atrophy 16 'optic atrophy 16' SubClassOf 'hereditary optic atrophy' http://purl.obolibrary.org/obo/HP_0031165 Multifocal seizures 'Multifocal seizures' SubClassOf 'Focal-onset seizure' http://purl.obolibrary.org/obo/MONDO_0957935 optic atrophy 15 'optic atrophy 15' SubClassOf 'hereditary optic atrophy' http://purl.obolibrary.org/obo/MONDO_0013902 aortic valve disease 2 'aortic valve disease 2' SubClassOf 'familial bicuspid aortic valve' http://purl.obolibrary.org/obo/MONDO_0013926 hypogonadotropic hypogonadism 14 with or without anosmia 'hypogonadotropic hypogonadism 14 with or without anosmia' SubClassOf 'Kallmann syndrome' http://purl.obolibrary.org/obo/HP_0031039 Spermatocyte maturation arrest 'Spermatocyte maturation arrest' SubClassOf 'Spermatogenesis maturation arrest' http://purl.obolibrary.org/obo/MONDO_0859572 cardiac valvular dysplasia 2 'cardiac valvular dysplasia 2' SubClassOf 'cardiac valvular defect' http://purl.obolibrary.org/obo/MONDO_0859524 hearing loss, autosomal dominant 86 'hearing loss, autosomal dominant 86' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0859525 hearing loss, autosomal dominant 87 'hearing loss, autosomal dominant 87' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0859526 immunodeficiency 109 with lymphoproliferation 'immunodeficiency 109 with lymphoproliferation' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0859527 hearing loss, autosomal dominant 88 'hearing loss, autosomal dominant 88' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0013830 keratoconus 5 'keratoconus 5' SubClassOf 'keratoconus' http://purl.obolibrary.org/obo/MONDO_0013844 stuttering, familial persistent, 4 'stuttering, familial persistent, 4' SubClassOf 'stutter disorder' http://purl.obolibrary.org/obo/MONDO_0013852 hypertrophic cardiomyopathy 21 'hypertrophic cardiomyopathy 21' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0957984 cardiomyopathy, dilated, 2j 'cardiomyopathy, dilated, 2j' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities 'neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859285 neurodevelopmental disorder with microcephaly, short stature, and speech delay 'neurodevelopmental disorder with microcephaly, short stature, and speech delay' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859275 neurodevelopmental disorder with spasticity, seizures, and brain abnormalities 'neurodevelopmental disorder with spasticity, seizures, and brain abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859264 congenital myopathy 11 'congenital myopathy 11' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0859266 neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy 'neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859256 neurodevelopmental disorder with language delay and seizures 'neurodevelopmental disorder with language delay and seizures' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859252 neurodevelopmental disorder with poor growth and skeletal anomalies 'neurodevelopmental disorder with poor growth and skeletal anomalies' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859216 neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis 'neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0013739 chilblain lupus 2 'chilblain lupus 2' SubClassOf 'SAMHD1-related type 1 interferonopathy' 'chilblain lupus 2' SubClassOf 'familial chilblain lupus' http://purl.obolibrary.org/obo/HP_0006380 Knee flexion contracture 'Knee flexion contracture' SubClassOf 'Lower-limb joint contracture' 'Knee flexion contracture' SubClassOf 'Abnormality of the lower limb' http://purl.obolibrary.org/obo/HP_0006385 Short lower limbs 'Short lower limbs' SubClassOf 'Lower limb undergrowth' http://purl.obolibrary.org/obo/HP_0031329 Interstitial cardiac fibrosis 'Interstitial cardiac fibrosis' SubClassOf 'Myocardial fibrosis' http://purl.obolibrary.org/obo/MONDO_0013798 chromosome 16q22 deletion syndrome 'chromosome 16q22 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 16' 'chromosome 16q22 deletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0957824 optic atrophy 14 'optic atrophy 14' SubClassOf 'hereditary optic atrophy' http://purl.obolibrary.org/obo/MONDO_0859380 episodic kinesigenic dyskinesia 3 'episodic kinesigenic dyskinesia 3' SubClassOf 'episodic kinesigenic dyskinesia' http://purl.obolibrary.org/obo/MONDO_0859381 cardiomyopathy, dilated, 100 'cardiomyopathy, dilated, 100' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0859373 intellectual developmental disorder, autosomal recessive 78 'intellectual developmental disorder, autosomal recessive 78' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0859362 hyperinsulinemic hypoglycemia, familial, 8 'hyperinsulinemic hypoglycemia, familial, 8' SubClassOf 'hyperinsulinemic hypoglycemia' http://purl.obolibrary.org/obo/MONDO_0859365 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures 'neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859356 congenital disorder of glycosylation, type IIy 'congenital disorder of glycosylation, type IIy' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0859351 obesity and hypopigmentation 'obesity and hypopigmentation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0957812 developmental and epileptic encephalopathy 112 'developmental and epileptic encephalopathy 112' SubClassOf 'genetic developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0859347 neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities 'neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859341 hypotrichosis 15 'hypotrichosis 15' SubClassOf 'hypotrichosis' http://purl.obolibrary.org/obo/MONDO_0859334 spinocerebellar ataxia 50 'spinocerebellar ataxia 50' SubClassOf 'autosomal dominant cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0957809 neutropenia, severe congenital, 10, autosomal recessive 'neutropenia, severe congenital, 10, autosomal recessive' SubClassOf 'severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0859309 spastic paraplegia 88, autosomal dominant 'spastic paraplegia 88, autosomal dominant' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0859301 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects 'neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859303 intellectual developmental disorder with ocular anomalies and distinctive facial features 'intellectual developmental disorder with ocular anomalies and distinctive facial features' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013611 retinitis pigmentosa 62 'retinitis pigmentosa 62' SubClassOf 'MAK-related retinopathy' 'retinitis pigmentosa 62' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0013669 breast-ovarian cancer, familial, susceptibility to, 4 'breast-ovarian cancer, familial, susceptibility to, 4' SubClassOf 'predisposes towards' some 'hereditary breast ovarian cancer syndrome' 'breast-ovarian cancer, familial, susceptibility to, 4' SubClassOf 'breast-ovarian cancer, familial, susceptibility to' http://purl.obolibrary.org/obo/HP_0006575 Intrahepatic cholestasis with episodic jaundice 'Intrahepatic cholestasis with episodic jaundice' SubClassOf 'Cholestasis' http://purl.obolibrary.org/obo/MONDO_0013509 intellectual disability, autosomal dominant 6 'intellectual disability, autosomal dominant 6' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0013552 hereditary spastic paraplegia 52 'hereditary spastic paraplegia 52' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013405 retinitis pigmentosa 49 'retinitis pigmentosa 49' SubClassOf 'CNGA1-related retinopathy' 'retinitis pigmentosa 49' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0013413 retinitis pigmentosa 45 'retinitis pigmentosa 45' SubClassOf 'retinitis pigmentosa' 'retinitis pigmentosa 45' SubClassOf 'CNGB1-related retinopathy' http://purl.obolibrary.org/obo/HP_0031413 Short telomere length 'Short telomere length' SubClassOf 'Abnormal chromosome morphology' http://purl.obolibrary.org/obo/MONDO_0013437 retinitis pigmentosa 43 'retinitis pigmentosa 43' SubClassOf 'PDE6A-related retinopathy' 'retinitis pigmentosa 43' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0013444 nephronophthisis 9 'nephronophthisis 9' SubClassOf 'nephronophthisis' http://purl.obolibrary.org/obo/MONDO_0013466 orofacial cleft 13 'orofacial cleft 13' SubClassOf 'orofacial cleft' http://purl.obolibrary.org/obo/HP_0006846 Acute encephalopathy 'Acute encephalopathy' SubClassOf 'Encephalopathy' http://purl.obolibrary.org/obo/MONDO_0013314 retinitis pigmentosa 56 'retinitis pigmentosa 56' SubClassOf 'IMPG2-related recessive retinopathy' 'retinitis pigmentosa 56' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/HP_0006702 Coronary artery dissection 'Coronary artery dissection' SubClassOf 'Abnormality of the vasculature' 'Coronary artery dissection' SubClassOf 'Abnormal cardiovascular system morphology' http://purl.obolibrary.org/obo/HP_0006722 Small intestine carcinoid 'Small intestine carcinoid' SubClassOf 'Abnormality of the nervous system' 'Small intestine carcinoid' SubClassOf 'Abnormality of the gastrointestinal tract' 'Small intestine carcinoid' SubClassOf 'Abnormality of the endocrine system' http://purl.obolibrary.org/obo/HP_0006682 Premature ventricular contraction 'Premature ventricular contraction' SubClassOf 'Ventricular arrhythmia' http://purl.obolibrary.org/obo/HP_0031628 Aborted sudden cardiac death 'Aborted sudden cardiac death' SubClassOf 'Arrhythmia' http://purl.obolibrary.org/obo/HP_0031690 Opportunistic infection 'Opportunistic infection' SubClassOf 'infectious disease characteristic' 'Opportunistic infection' SubClassOf 'Abnormality of immune system physiology' http://purl.obolibrary.org/obo/MONDO_0008586 esophageal atresia/tracheoesophageal fistula 'esophageal atresia/tracheoesophageal fistula' SubClassOf 'esophageal disease' http://purl.obolibrary.org/obo/MONDO_0958334 pulmonary hypertension, primary, 6 'pulmonary hypertension, primary, 6' SubClassOf 'heritable pulmonary arterial hypertension' http://purl.obolibrary.org/obo/HP_0100337 Bilateral cleft palate 'Bilateral cleft palate' SubClassOf 'Cleft palate' http://purl.obolibrary.org/obo/MONDO_0958195 oculopharyngeal muscular dystrophy 2 'oculopharyngeal muscular dystrophy 2' SubClassOf 'oculopharyngeal muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0008377 retinitis pigmentosa 1 'retinitis pigmentosa 1' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0958239 microphthalmia/coloboma 11 'microphthalmia/coloboma 11' SubClassOf 'microphthalmia, isolated, with coloboma' http://purl.obolibrary.org/obo/MONDO_0958230 orofaciodigital syndrome 20 'orofaciodigital syndrome 20' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/HP_0002219 Facial hypertrichosis 'Facial hypertrichosis' SubClassOf 'Hypertrichosis' http://purl.obolibrary.org/obo/HP_0002254 Intermittent diarrhea 'Intermittent diarrhea' SubClassOf 'Diarrhea' http://purl.obolibrary.org/obo/HP_0002183 Phonophobia 'Phonophobia' SubClassOf 'Atypical behavior' http://purl.obolibrary.org/obo/HP_0100775 Dural ectasia 'Dural ectasia' SubClassOf 'Morphological central nervous system abnormality' http://purl.obolibrary.org/obo/MONDO_0008187 panic disorder 1 'panic disorder 1' SubClassOf 'familial panic disorder' http://purl.obolibrary.org/obo/HP_0002067 Bradykinesia 'Bradykinesia' SubClassOf 'Abnormal central motor function' http://purl.obolibrary.org/obo/HP_0002064 Spastic gait 'Spastic gait' SubClassOf 'Gait disturbance' 'Spastic gait' SubClassOf 'Spasticity' http://purl.obolibrary.org/obo/HP_0002073 Progressive cerebellar ataxia 'Progressive cerebellar ataxia' SubClassOf 'Ataxia' http://purl.obolibrary.org/obo/HP_0002084 Encephalocele 'Encephalocele' SubClassOf 'Abnormal skull morphology' 'Encephalocele' SubClassOf 'Morphological central nervous system abnormality' http://purl.obolibrary.org/obo/HP_0100830 Round ear 'Round ear' SubClassOf 'Abnormal pinna morphology' http://purl.obolibrary.org/obo/HP_0100898 Connective tissue nevi 'Connective tissue nevi' SubClassOf 'Abnormality of connective tissue' 'Connective tissue nevi' SubClassOf 'Abnormal skin morphology' http://purl.obolibrary.org/obo/HP_0002038 Protein avoidance 'Protein avoidance' SubClassOf 'Abdominal symptom' http://purl.obolibrary.org/obo/HP_0100867 Duodenal stenosis 'Duodenal stenosis' SubClassOf 'Abnormal duodenum morphology' http://purl.obolibrary.org/obo/MONDO_0023662 lymphatic malformation 10 'lymphatic malformation 10' SubClassOf 'lymphatic malformation' http://purl.obolibrary.org/obo/HP_0002487 Hyperkinetic movements 'Hyperkinetic movements' SubClassOf 'Abnormality of movement' http://purl.obolibrary.org/obo/HP_0002490 Increased CSF lactate 'Increased CSF lactate' SubClassOf 'Abnormal CSF lactate concentration' http://purl.obolibrary.org/obo/HP_0002396 Cogwheel rigidity 'Cogwheel rigidity' SubClassOf 'Rigidity' http://purl.obolibrary.org/obo/HP_0002367 Visual hallucination 'Visual hallucination' SubClassOf 'Hallucinations' http://purl.obolibrary.org/obo/HP_0002363 Abnormal brainstem morphology 'Abnormal brainstem morphology' SubClassOf 'Abnormal brain morphology' http://purl.obolibrary.org/obo/HP_0002365 Hypoplasia of the brainstem 'Hypoplasia of the brainstem' SubClassOf 'Abnormal brainstem morphology' http://purl.obolibrary.org/obo/HP_0002361 Psychomotor deterioration 'Psychomotor deterioration' SubClassOf 'Mental deterioration' http://purl.obolibrary.org/obo/HP_0002375 Hypokinesia 'Hypokinesia' SubClassOf 'Abnormality of movement' http://purl.obolibrary.org/obo/HP_0002322 Resting tremor 'Resting tremor' SubClassOf 'Tremor' http://purl.obolibrary.org/obo/HP_0002331 Recurrent paroxysmal headache 'Recurrent paroxysmal headache' SubClassOf 'Headache' http://purl.obolibrary.org/obo/HP_0100660 Dyskinesia 'Dyskinesia' SubClassOf 'Abnormality of movement' http://purl.obolibrary.org/obo/HP_0002286 Fair hair 'Fair hair' SubClassOf 'Hypopigmentation of hair' http://purl.obolibrary.org/obo/HP_0002607 Bowel incontinence 'Bowel incontinence' SubClassOf 'Constitutional symptom' 'Bowel incontinence' SubClassOf 'Abnormality of the digestive system' http://purl.obolibrary.org/obo/HP_0002611 Cholestatic liver disease 'Cholestatic liver disease' SubClassOf 'Cholestasis' http://purl.obolibrary.org/obo/HP_0012026 Hyperornithinemia 'Hyperornithinemia' SubClassOf 'Abnormal circulating ornithine concentration' http://purl.obolibrary.org/obo/HP_0002522 Areflexia of lower limbs 'Areflexia of lower limbs' SubClassOf 'Abnormality of the lower limb' 'Areflexia of lower limbs' SubClassOf 'Areflexia' http://purl.obolibrary.org/obo/HP_0002527 Falls 'Falls' SubClassOf 'Gait disturbance' http://purl.obolibrary.org/obo/MONDO_0018604 familial colorectal cancer type X 'familial colorectal cancer type X' SubClassOf 'hereditary nonpolyposis colon cancer' http://purl.obolibrary.org/obo/MONDO_0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome 'pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/HP_0002538 Abnormal cerebral cortex morphology 'Abnormal cerebral cortex morphology' SubClassOf 'Abnormal cerebral morphology' http://purl.obolibrary.org/obo/HP_0002572 Episodic vomiting 'Episodic vomiting' SubClassOf 'Vomiting' http://purl.obolibrary.org/obo/HP_0002871 Central apnea 'Central apnea' SubClassOf 'Apnea' http://purl.obolibrary.org/obo/HP_0002828 Multiple joint contractures 'Multiple joint contractures' SubClassOf 'Flexion contracture' http://purl.obolibrary.org/obo/MONDO_0018566 short stature-advanced bone age-early-onset osteoarthritis syndrome 'short stature-advanced bone age-early-onset osteoarthritis syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/HP_0012245 Sex reversal 'Sex reversal' SubClassOf 'Abnormal sex determination' http://purl.obolibrary.org/obo/HP_0002761 Generalized joint hypermobility 'Generalized joint hypermobility' SubClassOf 'Joint hypermobility' http://purl.obolibrary.org/obo/HP_0002707 Palate telangiectasia 'Palate telangiectasia' SubClassOf 'Oral cavity telangiectasia' 'Palate telangiectasia' SubClassOf 'Abnormal palate morphology' http://purl.obolibrary.org/obo/HP_0002733 Abnormal lymph node morphology 'Abnormal lymph node morphology' SubClassOf 'Abnormality of the lymphatic system' http://purl.obolibrary.org/obo/HP_0012156 Hemophagocytosis 'Hemophagocytosis' SubClassOf 'Abnormal leukocyte morphology' http://purl.obolibrary.org/obo/HP_0012110 Hypoplasia of the pons 'Hypoplasia of the pons' SubClassOf 'Abnormal brainstem morphology' http://purl.obolibrary.org/obo/HP_0012133 Erythroid hypoplasia 'Erythroid hypoplasia' SubClassOf 'Abnormal erythrocyte morphology' http://purl.obolibrary.org/obo/HP_0012432 Chronic fatigue 'Chronic fatigue' SubClassOf 'Fatigue' http://purl.obolibrary.org/obo/HP_0012449 Sacroiliac joint synovitis 'Sacroiliac joint synovitis' SubClassOf 'Abnormality of the vertebral column' http://purl.obolibrary.org/obo/HP_0012484 Abnormal dense granules 'Abnormal dense granules' SubClassOf 'Abnormal platelet morphology' http://purl.obolibrary.org/obo/HP_0012493 Middle cerebral artery stenosis 'Middle cerebral artery stenosis' SubClassOf 'Abnormal cerebral vascular morphology' http://purl.obolibrary.org/obo/HP_0002948 Vertebral fusion 'Vertebral fusion' SubClassOf 'Vertebral segmentation defect' http://purl.obolibrary.org/obo/HP_0002972 Reduced delayed hypersensitivity 'Reduced delayed hypersensitivity' SubClassOf 'Abnormality of T cell physiology' http://purl.obolibrary.org/obo/HP_0012398 Peripheral edema 'Peripheral edema' SubClassOf 'Edema' http://purl.obolibrary.org/obo/HP_0012345 Abnormal glycosylation 'Abnormal glycosylation' SubClassOf 'Abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/HP_0012368 Flat face 'Flat face' SubClassOf 'Abnormal facial shape' http://purl.obolibrary.org/obo/MONDO_0033856 LAMA5-related multisystemic syndrome 'LAMA5-related multisystemic syndrome' SubClassOf 'autosomal dominant disease' 'LAMA5-related multisystemic syndrome' SubClassOf 'hereditary disorder of connective tissue' 'LAMA5-related multisystemic syndrome' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0958012 neurodegeneration with brain iron accumulation 9 'neurodegeneration with brain iron accumulation 9' SubClassOf 'neurodegeneration with brain iron accumulation' http://purl.obolibrary.org/obo/MONDO_0958030 immunodeficiency 118 'immunodeficiency 118' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/HP_0002918 Hypermagnesemia 'Hypermagnesemia' SubClassOf 'Abnormal blood ion concentration' http://purl.obolibrary.org/obo/HP_0012650 Perisylvian polymicrogyria 'Perisylvian polymicrogyria' SubClassOf 'Abnormal cortical gyration' http://purl.obolibrary.org/obo/OBI_0003369 assay kit 'assay kit' SubClassOf 'device' http://purl.obolibrary.org/obo/HP_0012535 Abnormal synaptic transmission 'Abnormal synaptic transmission' SubClassOf 'Abnormal nervous system physiology' http://purl.obolibrary.org/obo/HP_0012529 Abnormal dense granule content 'Abnormal dense granule content' SubClassOf 'Abnormal dense granules' http://purl.obolibrary.org/obo/MONDO_0014345 retinitis pigmentosa 69 'retinitis pigmentosa 69' SubClassOf 'KIZ-related retinopathy' 'retinitis pigmentosa 69' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/HP_0012817 Noncompaction cardiomyopathy 'Noncompaction cardiomyopathy' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/MONDO_0014432 Bardet-Biedl syndrome 2 'Bardet-Biedl syndrome 2' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 2' SubClassOf 'BBS2-related ciliopathy' http://purl.obolibrary.org/obo/MONDO_0014235 chromosome 22q13 duplication syndrome 'chromosome 22q13 duplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 22' http://purl.obolibrary.org/obo/HP_0012733 Macule 'Macule' SubClassOf 'Abnormal skin morphology' http://purl.obolibrary.org/obo/HP_0012721 Venous malformation 'Venous malformation' SubClassOf 'Abnormal venous morphology' http://purl.obolibrary.org/obo/HP_0012714 Severe hearing impairment 'Severe hearing impairment' SubClassOf 'Hearing impairment' http://purl.obolibrary.org/obo/HP_0012715 Profound hearing impairment 'Profound hearing impairment' SubClassOf 'Hearing impairment' http://purl.obolibrary.org/obo/HP_0012722 Heart block 'Heart block' SubClassOf 'Abnormality of cardiovascular system electrophysiology' http://purl.obolibrary.org/obo/MONDO_0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 'inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2' SubClassOf 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia' http://purl.obolibrary.org/obo/MONDO_0014174 renal-hepatic-pancreatic dysplasia 2 'renal-hepatic-pancreatic dysplasia 2' SubClassOf 'renal-hepatic-pancreatic dysplasia' http://purl.obolibrary.org/obo/MONDO_0004753 mechanical strabismus 'mechanical strabismus' SubClassOf 'ocular motility disease' http://purl.obolibrary.org/obo/HP_0007074 Thick corpus callosum 'Thick corpus callosum' SubClassOf 'Abnormal corpus callosum morphology' http://purl.obolibrary.org/obo/HP_0032046 Focal cortical dysplasia 'Focal cortical dysplasia' SubClassOf 'Abnormal cerebral cortex morphology' http://purl.obolibrary.org/obo/HP_0007033 Cerebellar dysplasia 'Cerebellar dysplasia' SubClassOf 'Abnormal cerebellum morphology' http://purl.obolibrary.org/obo/HP_0007042 Focal white matter lesions 'Focal white matter lesions' SubClassOf 'Abnormal cerebral white matter morphology' http://purl.obolibrary.org/obo/HP_0007058 Generalized cerebral atrophy/hypoplasia 'Generalized cerebral atrophy/hypoplasia' SubClassOf 'Cerebral atrophy' http://purl.obolibrary.org/obo/HP_0007002 Motor axonal neuropathy 'Motor axonal neuropathy' SubClassOf 'Peripheral neuropathy' http://purl.obolibrary.org/obo/HP_0007270 Atypical absence seizure 'Atypical absence seizure' SubClassOf 'Generalized non-motor (absence) seizure' http://purl.obolibrary.org/obo/HP_0007272 Progressive psychomotor deterioration 'Progressive psychomotor deterioration' SubClassOf 'Progressive neurologic deterioration' http://purl.obolibrary.org/obo/HP_0007281 Developmental stagnation 'Developmental stagnation' SubClassOf 'Neurodevelopmental abnormality' http://purl.obolibrary.org/obo/HP_0007266 Cerebral dysmyelination 'Cerebral dysmyelination' SubClassOf 'Abnormal cerebral white matter morphology' 'Cerebral dysmyelination' SubClassOf 'Abnormal CNS myelination' http://purl.obolibrary.org/obo/HP_0007204 Diffuse white matter abnormalities 'Diffuse white matter abnormalities' SubClassOf 'Abnormal cerebral white matter morphology' http://purl.obolibrary.org/obo/HP_0007199 Progressive spastic paraparesis 'Progressive spastic paraparesis' SubClassOf 'Spastic paraparesis' http://purl.obolibrary.org/obo/HP_0007182 Peripheral hypomyelination 'Peripheral hypomyelination' SubClassOf 'Abnormal myelination' http://purl.obolibrary.org/obo/HP_0007181 Interosseus muscle atrophy 'Interosseus muscle atrophy' SubClassOf 'Distal amyotrophy' http://purl.obolibrary.org/obo/HP_0007112 Temporal cortical atrophy 'Temporal cortical atrophy' SubClassOf 'Cerebral cortical atrophy' http://purl.obolibrary.org/obo/HP_0007129 Cerebellar medulloblastoma 'Cerebellar medulloblastoma' SubClassOf 'Morphological central nervous system abnormality' http://purl.obolibrary.org/obo/HP_0007133 Progressive peripheral neuropathy 'Progressive peripheral neuropathy' SubClassOf 'Peripheral neuropathy' http://purl.obolibrary.org/obo/HP_0007109 Periventricular cysts 'Periventricular cysts' SubClassOf 'Abnormal periventricular white matter morphology' http://purl.obolibrary.org/obo/HP_0032479 Preimplantation lethality 'Preimplantation lethality' SubClassOf 'Abnormality of prenatal development or birth' http://purl.obolibrary.org/obo/MONDO_0009003 achromatopsia 2 'achromatopsia 2' SubClassOf 'CNGA3-related retinopathy' 'achromatopsia 2' SubClassOf 'achromatopsia' http://purl.obolibrary.org/obo/HP_0007476 Anhidrotic ectodermal dysplasia 'Anhidrotic ectodermal dysplasia' SubClassOf 'Abnormal skin morphology' http://purl.obolibrary.org/obo/HP_0032389 Periventricular laminar heterotopia 'Periventricular laminar heterotopia' SubClassOf 'Periventricular heterotopia' http://purl.obolibrary.org/obo/HP_0007394 Prominent superficial blood vessels 'Prominent superficial blood vessels' SubClassOf 'Vascular skin abnormality' http://purl.obolibrary.org/obo/HP_0007373 Motor neuron atrophy 'Motor neuron atrophy' SubClassOf 'Atrophy/Degeneration affecting the central nervous system' http://purl.obolibrary.org/obo/HP_0007522 Increased number of skin folds 'Increased number of skin folds' SubClassOf 'Abnormally lax or hyperextensible skin' http://purl.obolibrary.org/obo/HP_0007587 Numerous pigmented freckles 'Numerous pigmented freckles' SubClassOf 'Abnormality of skin pigmentation' http://purl.obolibrary.org/obo/HP_0007585 Skin fragility with non-scarring blistering 'Skin fragility with non-scarring blistering' SubClassOf 'Fragile skin' http://purl.obolibrary.org/obo/MONDO_0700063 complete 'mosaic' DisjointWith 'complete' 'complete' SubClassOf 'mosaic vs complete' http://purl.obolibrary.org/obo/MONDO_0700054 microcephaly 6 with or without short stature 'microcephaly 6 with or without short stature' SubClassOf 'microcephaly with or without short stature' http://purl.obolibrary.org/obo/MONDO_0700032 complete trisomy 18 'complete trisomy 18' SubClassOf 'trisomy 18' http://purl.obolibrary.org/obo/MONDO_0700033 complete trisomy 13 'complete trisomy 13' SubClassOf 'trisomy 13' http://purl.obolibrary.org/obo/MONDO_0700030 complete trisomy 21 'complete trisomy 21' SubClassOf 'trisomy 21' http://purl.obolibrary.org/obo/MONDO_0700006 non-idiopathic 'non-idiopathic' SubClassOf 'idiopathic vs non-idiopathic' http://purl.obolibrary.org/obo/MONDO_0014690 dyskeratosis congenita, autosomal dominant 6 'dyskeratosis congenita, autosomal dominant 6' SubClassOf 'ACD-related short telomere syndrome' 'dyskeratosis congenita, autosomal dominant 6' SubClassOf 'dyskeratosis congenita' 'dyskeratosis congenita, autosomal dominant 6' SubClassOf 'hematologic disease' 'dyskeratosis congenita, autosomal dominant 6' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0014692 retinitis pigmentosa 74 'retinitis pigmentosa 74' SubClassOf 'retinitis pigmentosa' 'retinitis pigmentosa 74' SubClassOf 'retinal ciliopathy' 'retinitis pigmentosa 74' SubClassOf 'BBS2-related ciliopathy' http://purl.obolibrary.org/obo/HP_0007759 Opacification of the corneal stroma 'Opacification of the corneal stroma' SubClassOf 'Corneal opacity' http://purl.obolibrary.org/obo/MONDO_0014797 lymphatic malformation 6 'lymphatic malformation 6' SubClassOf 'lymphatic malformation' http://purl.obolibrary.org/obo/MONDO_0700349 ACTN2-related cardiac and skeletal myopathy 'ACTN2-related cardiac and skeletal myopathy' SubClassOf 'hereditary skeletal muscle disorder' 'ACTN2-related cardiac and skeletal myopathy' SubClassOf 'cardiogenetic disease' http://purl.obolibrary.org/obo/MONDO_0700346 MAX-related tumor predisposition 'MAX-related tumor predisposition' SubClassOf 'benign endocrine neoplasm' 'MAX-related tumor predisposition' SubClassOf 'hereditary pheochromocytoma-paraganglioma' 'MAX-related tumor predisposition' SubClassOf 'pheochromocytoma' 'MAX-related tumor predisposition' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0700339 DNM1-encephalopathy and neurodevelopmental disorder 'DNM1-encephalopathy and neurodevelopmental disorder' SubClassOf 'genetic developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0700338 autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant 'autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant' SubClassOf 'autoinflammation, panniculitis, and dermatosis syndrome' http://purl.obolibrary.org/obo/MONDO_0700300 achalasia-progeroid syndrome 'achalasia-progeroid syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0700301 Fischer-Zirnsak progeroid syndrome 'Fischer-Zirnsak progeroid syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0014624 Brown syndrome 'Brown syndrome' SubClassOf 'mechanical strabismus' 'Brown syndrome' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0014630 familial adenomatous polyposis 3 'familial adenomatous polyposis 3' SubClassOf 'classic or attenuated familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0700299 ACTH-independent macronodular adrenal hyperplasia 3 'ACTH-independent macronodular adrenal hyperplasia 3' SubClassOf 'Cushing syndrome due to macronodular adrenal hyperplasia' http://purl.obolibrary.org/obo/MONDO_0700298 isolated methylmalonic aciduria cblD type 'isolated methylmalonic aciduria cblD type' SubClassOf 'methylmalonic acidemia' http://purl.obolibrary.org/obo/MONDO_0700297 homocystinuria-megaloblastic anemia cblD type 'homocystinuria-megaloblastic anemia cblD type' SubClassOf 'homocystinuria without methylmalonic aciduria' http://purl.obolibrary.org/obo/MONDO_0700291 glycogen storage disease IX 'glycogen storage disease IX' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0700294 CTCF-related neurodevelopmental disorder 'CTCF-related neurodevelopmental disorder' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0700290 spermatogenic failure 98 'spermatogenic failure 98' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0700288 early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy 'early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0700285 DMD-related muscular dystrophy 'DMD-related muscular dystrophy' SubClassOf 'muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0700284 carnitine palmitoyl transferase deficiency 'carnitine palmitoyl transferase deficiency' SubClassOf 'disorder of carnitine cycle and carnitine transport' http://purl.obolibrary.org/obo/MONDO_0700278 POLR1C-related disorder 'POLR1C-related disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0700274 RAD51D-related cancer predisposition 'RAD51D-related cancer predisposition' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0014666 hypomyelinating leukodystrophy 11 'hypomyelinating leukodystrophy 11' SubClassOf 'POLR3-related leukodystrophy' 'hypomyelinating leukodystrophy 11' SubClassOf 'POLR1C-related disorder' http://purl.obolibrary.org/obo/MONDO_0700267 BARD1-related cancer predisposition 'BARD1-related cancer predisposition' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0700260 SAMHD1-related type 1 interferonopathy 'SAMHD1-related type 1 interferonopathy' SubClassOf 'hereditary disorder of connective tissue' 'SAMHD1-related type 1 interferonopathy' SubClassOf 'type 1 interferonopathy' http://purl.obolibrary.org/obo/MONDO_0700259 RNASEH2A-related type 1 interferonopathy 'RNASEH2A-related type 1 interferonopathy' SubClassOf 'type 1 interferonopathy' 'RNASEH2A-related type 1 interferonopathy' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0700258 RNASEH2C-related type 1 interferonopathy 'RNASEH2C-related type 1 interferonopathy' SubClassOf 'type 1 interferonopathy' 'RNASEH2C-related type 1 interferonopathy' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0700257 RNASEH2B-related type 1 interferonopathy 'RNASEH2B-related type 1 interferonopathy' SubClassOf 'type 1 interferonopathy' 'RNASEH2B-related type 1 interferonopathy' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0700244 CACNA2D4-related retinopathy 'CACNA2D4-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0700241 IMPG2-related recessive retinopathy 'IMPG2-related recessive retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0700242 IMPG2-related dominant retinopathy 'IMPG2-related dominant retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0700237 BBS10-related ciliopathy 'BBS10-related ciliopathy' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_0700233 TOPORS-related retinopathy 'TOPORS-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0700236 BBS9-related ciliopathy 'BBS9-related ciliopathy' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_0700232 KIZ-related retinopathy 'KIZ-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0700229 MAK-related retinopathy 'MAK-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0700224 PDE6A-related retinopathy 'PDE6A-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0968944 intellectual developmental disorder, autosomal recessive 82 'intellectual developmental disorder, autosomal recessive 82' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014505 developmental and epileptic encephalopathy, 27 'developmental and epileptic encephalopathy, 27' SubClassOf 'infantile spasms' 'developmental and epileptic encephalopathy, 27' SubClassOf 'GRIN disorder' 'developmental and epileptic encephalopathy, 27' SubClassOf 'genetic developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0014509 vitelliform macular dystrophy 5 'vitelliform macular dystrophy 5' SubClassOf 'adult-onset foveomacular vitelliform dystrophy' 'vitelliform macular dystrophy 5' SubClassOf 'IMPG2-related dominant retinopathy' http://purl.obolibrary.org/obo/HP_0003100 Slender long bone 'Slender long bone' SubClassOf 'Abnormal long bone morphology' http://purl.obolibrary.org/obo/MONDO_0009875 achromatopsia 3 'achromatopsia 3' SubClassOf 'achromatopsia' 'achromatopsia 3' SubClassOf 'CNGB3-related retinopathy' http://purl.obolibrary.org/obo/HP_0003034 Diaphyseal sclerosis 'Diaphyseal sclerosis' SubClassOf 'Abnormality of limbs' 'Diaphyseal sclerosis' SubClassOf 'Abnormal long bone morphology' 'Diaphyseal sclerosis' SubClassOf 'Increased bone mineral density' http://purl.obolibrary.org/obo/MONDO_0044299 myasthenic syndrome, congenital, 22 'myasthenic syndrome, congenital, 22' SubClassOf 'congenital nervous system disorder' 'myasthenic syndrome, congenital, 22' SubClassOf 'congenital myasthenic syndrome' http://purl.obolibrary.org/obo/HP_0003324 Generalized muscle weakness 'Generalized muscle weakness' SubClassOf 'Muscle weakness' http://purl.obolibrary.org/obo/MONDO_0009606 methemoglobinemia due to deficiency of methemoglobin reductase 'methemoglobinemia due to deficiency of methemoglobin reductase' SubClassOf 'hereditary methemoglobinemia' http://purl.obolibrary.org/obo/MONDO_0009629 Desbuquois dysplasia 1 'Desbuquois dysplasia 1' SubClassOf 'Desbuquois dysplasia' http://purl.obolibrary.org/obo/HP_0003273 Hip contracture 'Hip contracture' SubClassOf 'Lower-limb joint contracture' 'Hip contracture' SubClassOf 'Abnormal hip joint morphology' http://purl.obolibrary.org/obo/MONDO_0019015 omphalocele 'omphalocele' SubClassOf 'abdominal wall malformation' http://purl.obolibrary.org/obo/HP_0003159 Hyperoxaluria 'Hyperoxaluria' SubClassOf 'Abnormality of urine homeostasis' http://purl.obolibrary.org/obo/MONDO_0009558 Treacher Collins syndrome 3 'Treacher Collins syndrome 3' SubClassOf 'POLR1C-related disorder' 'Treacher Collins syndrome 3' SubClassOf 'Treacher-Collins syndrome' http://purl.obolibrary.org/obo/HP_0003126 Low-molecular-weight proteinuria 'Low-molecular-weight proteinuria' SubClassOf 'Proteinuria' http://purl.obolibrary.org/obo/OBI_0000047 processed material 'processed material' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0010494 linear skin defects with multiple congenital anomalies 3 'linear skin defects with multiple congenital anomalies 3' SubClassOf 'NDUFB11-related disorders' 'linear skin defects with multiple congenital anomalies 3' SubClassOf 'linear skin defects with multiple congenital anomalies' http://purl.obolibrary.org/obo/HP_0003422 Vertebral segmentation defect 'Vertebral segmentation defect' SubClassOf 'Abnormal vertebral morphology' http://purl.obolibrary.org/obo/HP_0003712 Skeletal muscle hypertrophy 'Skeletal muscle hypertrophy' SubClassOf 'Abnormality of muscle size' http://purl.obolibrary.org/obo/HP_0003750 Increased muscle fatiguability 'Increased muscle fatiguability' SubClassOf 'Abnormal muscle physiology' http://purl.obolibrary.org/obo/HP_0003765 Psoriasiform dermatitis 'Psoriasiform dermatitis' SubClassOf 'Inflammatory abnormality of the skin' http://purl.obolibrary.org/obo/MONDO_0009217 Fanconi-like syndrome 'Fanconi-like syndrome' SubClassOf 'genetic disorder' 'Fanconi-like syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/HP_0003691 Scapular winging 'Scapular winging' SubClassOf 'Abnormal thorax morphology' 'Scapular winging' SubClassOf 'Abnormal skeletal muscle morphology' 'Scapular winging' SubClassOf 'Abnormality of the upper limb' http://purl.obolibrary.org/obo/MONDO_0010103 teeth, fused 'teeth, fused' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030428 immunodeficiency 85 and autoimmunity 'immunodeficiency 85 and autoimmunity' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030448 immunodeficiency 86 'immunodeficiency 86' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030498 immunodeficiency 92 'immunodeficiency 92' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030486 dystonia 32 'dystonia 32' SubClassOf 'VPS11-related neurological disorder' 'dystonia 32' SubClassOf 'inherited dystonia' http://purl.obolibrary.org/obo/MONDO_0030483 immunodeficiency 88 'immunodeficiency 88' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/HP_0003835 Shoulder subluxation 'Shoulder subluxation' SubClassOf 'Joint subluxation' http://purl.obolibrary.org/obo/HP_0410263 Brain imaging abnormality 'Brain imaging abnormality' SubClassOf 'Abnormal nervous system physiology' http://purl.obolibrary.org/obo/MONDO_0030316 lymphatic malformation 11 'lymphatic malformation 11' SubClassOf 'lymphatic malformation' http://purl.obolibrary.org/obo/MONDO_0019848 posterior hypospadias 'posterior hypospadias' SubClassOf 'disorder of development or morphogenesis' 'posterior hypospadias' SubClassOf 'male reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0005259 obsolete Asperger syndrome 'obsolete Asperger syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0044872 dysautonomia 'dysautonomia' SubClassOf 'autonomic nervous system disease' http://purl.obolibrary.org/obo/MONDO_0020459 unstable hemoglobin disease 'unstable hemoglobin disease' SubClassOf 'inherited hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0019328 macrocystic lymphatic malformation 'macrocystic lymphatic malformation' SubClassOf 'lymphangioma' http://purl.obolibrary.org/obo/MONDO_0020333 aggressive systemic mastocytosis 'aggressive systemic mastocytosis' SubClassOf 'systemic mastocytosis' http://purl.obolibrary.org/obo/HP_0008167 Very long chain fatty acid accumulation 'Very long chain fatty acid accumulation' SubClassOf 'Abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/HP_0008180 Mildly elevated creatine kinase 'Mildly elevated creatine kinase' SubClassOf 'Elevated circulating creatine kinase concentration' http://purl.obolibrary.org/obo/HP_0008185 Precocious puberty in males 'Precocious puberty in males' SubClassOf 'Abnormality of the endocrine system' http://purl.obolibrary.org/obo/HP_0008151 Prolonged prothrombin time 'Prolonged prothrombin time' SubClassOf 'Abnormality of coagulation' http://purl.obolibrary.org/obo/HP_0008155 Mucopolysacchariduria 'Mucopolysacchariduria' SubClassOf 'Abnormality of urine homeostasis' http://purl.obolibrary.org/obo/HP_0008071 Maternal hypertension 'Maternal hypertension' SubClassOf 'clinical history' http://purl.obolibrary.org/obo/MONDO_0030968 intellectual developmental disorder, autosomal recessive 76 'intellectual developmental disorder, autosomal recessive 76' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015408 diffuse lymphatic malformation 'diffuse lymphatic malformation' SubClassOf 'lymphangioma' http://purl.obolibrary.org/obo/MONDO_0030815 cholestasis, progressive familial intrahepatic, 11 'cholestasis, progressive familial intrahepatic, 11' SubClassOf 'progressive familial intrahepatic cholestasis' http://purl.obolibrary.org/obo/HP_0200041 Skin erosion 'Skin erosion' SubClassOf 'Abnormal skin morphology' http://purl.obolibrary.org/obo/MONDO_0054849 inflammatory bowel disease 29 'inflammatory bowel disease 29' SubClassOf 'inflammatory bowel disease' http://purl.obolibrary.org/obo/HP_0008347 Decreased activity of mitochondrial complex IV 'Decreased activity of mitochondrial complex IV' SubClassOf 'Abnormal activity of mitochondrial respiratory chain' http://purl.obolibrary.org/obo/HP_0033258 Sudden unexpected death in epilepsy 'Sudden unexpected death in epilepsy' SubClassOf 'Sudden death' http://purl.obolibrary.org/obo/MONDO_0030724 hearing loss, autosomal dominant 84 'hearing loss, autosomal dominant 84' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/HP_0008278 Cerebellar cortical atrophy 'Cerebellar cortical atrophy' SubClassOf 'Cerebellar atrophy' http://purl.obolibrary.org/obo/HP_0008213 Gonadotropin deficiency 'Gonadotropin deficiency' SubClassOf 'Anterior hypopituitarism' http://purl.obolibrary.org/obo/HP_0008231 Macronodular adrenal hyperplasia 'Macronodular adrenal hyperplasia' SubClassOf 'Abnormality of the adrenal glands' http://purl.obolibrary.org/obo/MONDO_0030673 spastic paraplegia 86, autosomal recessive 'spastic paraplegia 86, autosomal recessive' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0030690 pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 'pulmonary fibrosis and/or bone marrow failure, telomere-related, 6' SubClassOf 'pulmonary fibrosis and/or bone marrow failure, telomere-related' http://purl.obolibrary.org/obo/MONDO_0030681 immunodeficiency 94 with autoinflammation and dysmorphic facies 'immunodeficiency 94 with autoinflammation and dysmorphic facies' SubClassOf 'hyper-IgE syndrome' http://purl.obolibrary.org/obo/MONDO_0030519 agammaglobulinemia 9, autosomal recessive 'agammaglobulinemia 9, autosomal recessive' SubClassOf 'agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0030533 intellectual developmental disorder, autosomal recessive 73 'intellectual developmental disorder, autosomal recessive 73' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0030528 immunodeficiency 93 and hypertrophic cardiomyopathy 'immunodeficiency 93 and hypertrophic cardiomyopathy' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030524 mucopolysaccharidosis, type 10 'mucopolysaccharidosis, type 10' SubClassOf 'mucopolysaccharidosis' http://purl.obolibrary.org/obo/HP_0008458 Progressive congenital scoliosis 'Progressive congenital scoliosis' SubClassOf 'Abnormality of the vertebral column' http://purl.obolibrary.org/obo/MONDO_0011296 Meckel syndrome, type 2 'Meckel syndrome, type 2' SubClassOf 'polydactyly-syndactyly-triphalangism' 'Meckel syndrome, type 2' SubClassOf 'Meckel syndrome' http://purl.obolibrary.org/obo/HP_0008749 Laryngeal hypoplasia 'Laryngeal hypoplasia' SubClassOf 'Abnormal larynx morphology' http://purl.obolibrary.org/obo/MONDO_0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 'megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1' SubClassOf 'PIK3R2-related overgrowth spectrum' 'megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1' SubClassOf 'megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' http://purl.obolibrary.org/obo/MONDO_0035320 early-onset familial hypoaldosteronism 'early-onset familial hypoaldosteronism' SubClassOf 'familial hypoaldosteronism' 'early-onset familial hypoaldosteronism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0008765 Auditory hallucination 'Auditory hallucination' SubClassOf 'Hallucinations' http://purl.obolibrary.org/obo/MONDO_0970950 Rothmund-Thomson syndrome, type 4 'Rothmund-Thomson syndrome, type 4' SubClassOf 'Rothmund-Thomson syndrome' http://purl.obolibrary.org/obo/MONDO_0011276 orofacial cleft 2 'orofacial cleft 2' SubClassOf 'orofacial cleft' http://purl.obolibrary.org/obo/HP_0008669 Abnormal spermatogenesis 'Abnormal spermatogenesis' SubClassOf 'Functional abnormality of male internal genitalia' http://purl.obolibrary.org/obo/MONDO_0011272 retinitis pigmentosa 25 'retinitis pigmentosa 25' SubClassOf 'retinitis pigmentosa' 'retinitis pigmentosa 25' SubClassOf 'EYS-related retinopathy' http://purl.obolibrary.org/obo/HP_0008678 Renal hypoplasia/aplasia 'Renal hypoplasia/aplasia' SubClassOf 'Abnormal renal morphology' http://purl.obolibrary.org/obo/MONDO_0011280 schizophrenia 6 'schizophrenia 6' SubClassOf 'schizophrenia, susceptibility to' http://purl.obolibrary.org/obo/HP_0008921 Neonatal short-limb short stature 'Neonatal short-limb short stature' SubClassOf 'Disproportionate short-limb short stature' http://purl.obolibrary.org/obo/MONDO_1010098 TFAP2B-related congenital heart disease spectrum disorder 'TFAP2B-related congenital heart disease spectrum disorder' SubClassOf 'cardiogenetic disease' 'TFAP2B-related congenital heart disease spectrum disorder' SubClassOf 'congenital heart disease' http://purl.obolibrary.org/obo/MONDO_0011155 vacuolar Neuromyopathy 'vacuolar Neuromyopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0008850 Severe postnatal growth retardation 'Severe postnatal growth retardation' SubClassOf 'Postnatal growth retardation' http://purl.obolibrary.org/obo/MONDO_1010151 gallbladder disease 4 'gallbladder disease 4' SubClassOf 'inherited disease susceptibility' 'gallbladder disease 4' SubClassOf 'predisposes towards' some 'hereditary gallbladder disorder' http://purl.obolibrary.org/obo/MONDO_1010150 COL4A1/A2-related disorder 'COL4A1/A2-related disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_1010148 benign skeletal muscle neoplasm 'benign skeletal muscle neoplasm' SubClassOf 'musculoskeletal system benign neoplasm' 'benign skeletal muscle neoplasm' EquivalentTo 'benign neoplasm' and ('disease has location' some 'skeletal muscle tissue') 'benign skeletal muscle neoplasm' SubClassOf 'skeletal muscle neoplasm' http://purl.obolibrary.org/obo/MONDO_1010145 PIP5K1C-related neurodevelopmental disorder 'PIP5K1C-related neurodevelopmental disorder' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_1010144 PLD1-related congenital heart disease 'PLD1-related congenital heart disease' SubClassOf 'congenital heart disease' 'PLD1-related congenital heart disease' SubClassOf 'cardiogenetic disease' http://purl.obolibrary.org/obo/MONDO_1010132 AARS1-related leukoencephalopathy 'AARS1-related leukoencephalopathy' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_1010120 sudden unexpected death in pediatrics 'sudden unexpected death in pediatrics' SubClassOf 'idiopathic disease' http://purl.obolibrary.org/obo/MONDO_1010117 sudden unexplained death in childhood 'sudden unexplained death in childhood' SubClassOf 'sudden unexpected death in pediatrics' http://purl.obolibrary.org/obo/OBI_0000968 device 'device' SubClassOf 'processed material' http://purl.obolibrary.org/obo/MONDO_0800030 gastrointestinal defects and immunodeficiency syndrome 1 'gastrointestinal defects and immunodeficiency syndrome 1' SubClassOf 'syndromic disease' 'gastrointestinal defects and immunodeficiency syndrome 1' SubClassOf 'gastrointestinal defect and immunodeficiency syndrome' http://purl.obolibrary.org/obo/MONDO_0100052 acetazolamide-responsive hereditary episodic ataxia 'acetazolamide-responsive hereditary episodic ataxia' SubClassOf 'hereditary episodic ataxia' 'acetazolamide-responsive hereditary episodic ataxia' SubClassOf 'disease responds to' some 'acetazolamide' 'acetazolamide-responsive hereditary episodic ataxia' EquivalentTo 'hereditary episodic ataxia' and ('disease responds to' some 'acetazolamide') http://purl.obolibrary.org/obo/MONDO_0100030 adolescent/adult-onset epilepsy syndrome 'adolescent/adult-onset epilepsy syndrome' SubClassOf 'epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0100036 variable age onset epilepsy 'variable age onset epilepsy' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0002735 anal canal adenocarcinoma 'anal canal adenocarcinoma' EquivalentTo 'adenocarcinoma' and ('disease has location' some 'anal canal') 'anal canal adenocarcinoma' SubClassOf 'anal canal carcinoma' 'anal canal adenocarcinoma' SubClassOf 'anus adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0012128 transposition of the great arteries, dextro-looped 'transposition of the great arteries, dextro-looped' SubClassOf 'dextro-looped transposition of the great arteries' http://purl.obolibrary.org/obo/MONDO_0007108 anal canal carcinoma 'anal canal carcinoma' EquivalentTo 'carcinoma' and ('disease has location' some 'anal canal') 'anal canal carcinoma' SubClassOf 'epithelial tumor of anal canal' 'anal canal carcinoma' SubClassOf 'anal canal cancer' 'anal canal carcinoma' SubClassOf 'anal carcinoma' http://purl.obolibrary.org/obo/MONDO_0022606 branchial arch disease 'branchial arch disease' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0850093 absence epilepsy 'absence epilepsy' SubClassOf 'electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0012960 intellectual disability, autosomal dominant 5 'intellectual disability, autosomal dominant 5' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0003504 anal canal neuroendocrine neoplasm 'anal canal neuroendocrine neoplasm' SubClassOf 'neuroendocrine carcinoma' 'anal canal neuroendocrine neoplasm' SubClassOf 'rectum neuroendocrine neoplasm' 'anal canal neuroendocrine neoplasm' EquivalentTo 'neuroendocrine neoplasm' and ('disease has location' some 'anal canal') 'anal canal neuroendocrine neoplasm' SubClassOf 'anal canal carcinoma' http://purl.obolibrary.org/obo/MONDO_0013655 intellectual disability, autosomal dominant 8 'intellectual disability, autosomal dominant 8' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0008031 facioscapulohumeral muscular dystrophy 2 'facioscapulohumeral muscular dystrophy 2' SubClassOf 'facioscapulohumeral muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0004132 anal canal squamous cell carcinoma 'anal canal squamous cell carcinoma' SubClassOf 'anal canal carcinoma' 'anal canal squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and ('disease has location' some 'anal canal') 'anal canal squamous cell carcinoma' SubClassOf 'Anal Squamous Cell Carcinoma' http://purl.obolibrary.org/obo/MONDO_0018516 epithelial tumor of anal canal 'epithelial tumor of anal canal' SubClassOf 'intestinal neoplasm' 'epithelial tumor of anal canal' SubClassOf 'disease has location' some 'anal canal' 'epithelial tumor of anal canal' EquivalentTo 'epithelial neoplasm' and ('disease has location' some 'anal canal') 'epithelial tumor of anal canal' SubClassOf 'large intestine disorder' 'epithelial tumor of anal canal' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0008691 zinc, elevated plasma 'zinc, elevated plasma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0004707 anal canal carcinoma in situ 'anal canal carcinoma in situ' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'anal canal') 'anal canal carcinoma in situ' SubClassOf 'anal canal carcinoma' 'anal canal carcinoma in situ' SubClassOf 'rectum carcinoma in situ' http://purl.obolibrary.org/obo/MONDO_0004468 anal canal Paget disease 'anal canal Paget disease' EquivalentTo 'Paget disease' and ('disease has location' some 'anal canal') 'anal canal Paget disease' SubClassOf 'anal Paget disease' 'anal canal Paget disease' SubClassOf 'anal canal adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0000405 anal canal cancer 'anal canal cancer' SubClassOf 'intestinal cancer' 'anal canal cancer' EquivalentTo 'cancer' and ('disease has location' some 'anal canal') 'anal canal cancer' SubClassOf 'large intestine disorder' 'anal canal cancer' SubClassOf 'disease has location' some 'anal canal' http://purl.obolibrary.org/obo/MONDO_0000413 infancy electroclinical syndrome 'infancy electroclinical syndrome' SubClassOf 'electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0000412 neonatal period electroclinical syndrome 'neonatal period electroclinical syndrome' SubClassOf 'electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0000411 electroclinical syndrome 'electroclinical syndrome' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0000415 adolescence-adult electroclinical syndrome 'adolescence-adult electroclinical syndrome' SubClassOf 'electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0000414 childhood electroclinical syndrome 'childhood electroclinical syndrome' SubClassOf 'electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0009453 immune deficiency disease 'immune deficiency disease' SubClassOf 'immune system disease' 'immune deficiency disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009145 SchC6pf-Schulz-Passarge syndrome 'SchC6pf-Schulz-Passarge syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'SchC6pf-Schulz-Passarge syndrome' SubClassOf 'autosomal recessive disease' 'SchC6pf-Schulz-Passarge syndrome' SubClassOf 'ectodermal dysplasia WNT10A related' http://purl.obolibrary.org/obo/MONDO_0020732 progeria 'progeria' SubClassOf 'progeroid syndrome' 'progeria' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015069 neuroendocrine tumor of the anal canal 'neuroendocrine tumor of the anal canal' SubClassOf 'rectal neuroendocrine tumor' 'neuroendocrine tumor of the anal canal' SubClassOf 'anal canal neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0011323 arhinia, choanal atresia, and microphthalmia 'arhinia, choanal atresia, and microphthalmia' SubClassOf 'genetic disorder'